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Last Build Date: Sat, 22 Jul 2017 00:14:47 GMT

 



Grover disease

Thu, 20 Jul 2017 22:18:11 GMT

redirect

New page

#redirect[[Acantholytic dermatosis]]
[[Category:Dermatology]]



Grover's disease

Thu, 20 Jul 2017 22:17:53 GMT

redirect

New page

#redirect[[Acantholytic dermatosis]]
[[Category:Dermatology]]



Acantholytic dermatosis

Thu, 20 Jul 2017 22:17:07 GMT

know nothing about it

New page

{{SubjectBox}}
Grover's disease was first described in 1970[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=5440816 Grover RW. Transient acantholytic dermatosis. Archives of dermatology. 1970 Apr; 101(4):426-434.](Print) ([http://dx.doi.org/10.1001/archderm.101.4.426 Link to article] – subscription may be required.) as transient [[acantholytic dermatosis]] but by 1976 Grover disease was recognised to be more persistent in some[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=786177 Simon RS, Bloom D, Ackerman AB. Persistent acantholytic dermatosis. A variant of transient acantholytic dermatosis (Grover disease). Archives of dermatology. 1976 Oct; 112(10):1429-1431.](Print) ([http://dx.doi.org/10.1001/archderm.1976.01630340047012 Link to article] – subscription may be required.). Associations have been described with drugs (recombinant IL-4; RAF inhibitors), solid and haematologic malignancies, organ transplantation, ultraviolent exposure and heat[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=27660709 Uemura M, Faisal F, Haymaker C, McQuail N, Sirmans E, Hudgens CW, Barbara L, Bernatchez C, Curry JL, Hwu P, Tetzlaff MT, Diab A. A case report of Grover's disease from immunotherapy-a skin toxicity induced by inhibition of CTLA-4 but not PD-1. Journal for immunotherapy of cancer. 2016 ; 4:55.](Electronic-eCollection) ([http://dx.doi.org/10.1186/s40425-016-0157-6 Link to article] – subscription may be required.). It presents with a papulovesicular rash (pruritic papular or papulovesicular eruptions) of the upper trunk, generally among older white males in winter and has four different acantholytic histologic patterns. These are characterized by focal acantholysis with or without dyskeratosis. The patterns are[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=25708298 Miyauchi T, Fujita Y, Takashima S, Morita Y, Suzuki S, Mizuno O, Saito N, Nomura T, Shimizu H. Pruritic Papules Following Lumbar Corset Use: A Quiz. Grover's disease. Acta dermato-venereologica. 2015 Jul; 95(6):762-763.](Print) ([http://dx.doi.org/10.2340/00015555-2071 Link to article] – subscription may be required.):
#Darier-like (about 40%)
#Pemphigus-like (about 40%)
#Hailey–Hailey-like
#Spongiotic
It is now recognized as a common condition, but its pathogenesis and effective treatment remains unknown. It has histologically been found to be classic, but in fact was due to scabies so take care.
{{refsec}}
[[Category:Dermatology]]



SMARCAD1

Thu, 20 Jul 2017 21:39:44 GMT

← Older revision Revision as of 21:39, 20 July 2017
Line 13: Line 13:
#**Childhood blisters on the palms in hot weather
#**Childhood blisters on the palms in hot weather
{{refsec}}
{{refsec}}
-
[[Categorise:Genes]]
+
[[Category:Genes]]
-
[[Categorise:Oncogenes]]
+
[[Category:Oncogenes]]



Fingerprint

Thu, 20 Jul 2017 21:36:27 GMT

my patient had immigration delay disease

← Older revision Revision as of 21:36, 20 July 2017
Line 1: Line 1:
{{SubjectBox}}
{{SubjectBox}}
-
Fingerprints are almost as unique as an individuals [[DNA]]. This was recognised in the Western world about [[1880]] by Henry Faulds, who later became a police surgeon[http://www.galton.org/fingerprints/faulds-1880-nature-furrows.pdf Faulds H.On the skin-furrows of the hand. Nature 28 October 1880]. This uniqueness had been recognised at least 5 centuries earlier in China. [[Wikipedia:Francis Galton|Francis Galton]] borrowed, developed and formalised this idea in a classic work "Fingerprints". [[wikipedia:Sir_William_Herschel,_2nd_Baronet|Sir William James Herschel]] had utilised it earlier for civil government record keeping in colonial India. Wide adoption depended also on a useful classification system.  
+
Fingerprints are almost as unique as an individuals [[DNA]]. This was recognised in the Western world about [[1880]] by Henry Faulds, who later became a police surgeon[http://www.galton.org/fingerprints/faulds-1880-nature-furrows.pdf Faulds H.On the skin-furrows of the hand. Nature 28 October 1880]. This uniqueness had been recognised at least 5 centuries earlier in China. [[Wikipedia:Francis Galton|Francis Galton]] borrowed, developed and formalised this idea in a classic work "Fingerprints". [[wikipedia:Sir_William_Herschel,_2nd_Baronet|Sir William James Herschel]] had utilised it earlier for civil government record keeping in colonial India. Wide adoption depended also on a useful classification system. The study of such is termed [[:Category:Dermatoglyphics|dermatoglyphics]]. A few have none ([[adermatoglyphia]]) and suffer therefore in some jurisdictions from [[immigration delay disease]].
{{refsec}}
{{refsec}}
[[Category:Hand]]
[[Category:Hand]]
[[Category:Forensic medicine]]
[[Category:Forensic medicine]]
 +
[[Category:Dermatoglyphics]]



Adermatoglyphia

Thu, 20 Jul 2017 21:32:19 GMT

categorise ← Older revision Revision as of 21:32, 20 July 2017 Line 2: Line 2: Adermatoglyphia ([[immigration delay disease]][https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=20619487  Burger B, Fuchs D, Sprecher E, Itin P. The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. Journal of the American Academy of Dermatology. 2011 May; 64(5):974-980.](Print-Electronic) ([http://dx.doi.org/10.1016/j.jaad.2009.11.013 Link to article] – subscription may be required.)) is the absence of finger prints. It is a little challenging for those who use dermatoglyphics for human identification. Genetic causes are rare. [[SMARCAD1]] gene mutations that affect the shorter skin-specific isoform of [[SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1]] have been described as autosomal dominant. It has been reported in [[dyschromatosis universalis hereditaria]] (DUH) but in this case the gene responsible has not yet been characterised[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=25821732  Kumar S, Bhoyar P, Mahajan BB. A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association. Indian dermatology online journal. 2015 Mar-Apr; 6(2):105-109.](Print) ([http://dx.doi.org/10.4103/2229-5178.153013 Link to article] – subscription may be required.). Acquired causes through trauma or burns are more common. Patients with [[Kindler syndrome]] can acquire it. [[Capecitabine]] can cause it[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=28191373  Cohen PR. Capecitabine-Associated Loss of Fingerprints: Report of Capecitabine-Induced Adermatoglyphia in Two Women with Breast Cancer and Review of Acquired Dermatoglyphic Absence in Oncology Patients Treated with Capecitabine. Cureus. 2017 Jan; 9(1):e969.](Electronic) ([http://dx.doi.org/10.7759/cureus.969 Link to article] – subscription may be required.). Adermatoglyphia ([[immigration delay disease]][https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=20619487  Burger B, Fuchs D, Sprecher E, Itin P. The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. Journal of the American Academy of Dermatology. 2011 May; 64(5):974-980.](Print-Electronic) ([http://dx.doi.org/10.1016/j.jaad.2009.11.013 Link to article] – subscription may be required.)) is the absence of finger prints. It is a little challenging for those who use dermatoglyphics for human identification. Genetic causes are rare. [[SMARCAD1]] gene mutations that affect the shorter skin-specific isoform of [[SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1]] have been described as autosomal dominant. It has been reported in [[dyschromatosis universalis hereditaria]] (DUH) but in this case the gene responsible has not yet been characterised[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=25821732  Kumar S, Bhoyar P, Mahajan BB. A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association. Indian dermatology online journal. 2015 Mar-Apr; 6(2):105-109.](Print)



Category:Dermatoglyphics

Thu, 20 Jul 2017 21:31:59 GMT

categorise

New page

The study of [[fingerprint]]s (finger marks).
[[Category:Genetics]]
[[Category:Forensic medicine]]



Immigration delay disease

Thu, 20 Jul 2017 21:29:01 GMT

redirect

New page

#redirect[[Adermatoglyphia]]
[[Category:dermatoglyphics]]



Adermatoglyphia

Thu, 20 Jul 2017 21:27:32 GMT

no finger prints

New page

{{SubjectBox}}
Adermatoglyphia ([[immigration delay disease]][https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=20619487 Burger B, Fuchs D, Sprecher E, Itin P. The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. Journal of the American Academy of Dermatology. 2011 May; 64(5):974-980.](Print-Electronic) ([http://dx.doi.org/10.1016/j.jaad.2009.11.013 Link to article] – subscription may be required.)) is the absence of finger prints. It is a little challenging for those who use dermatoglyphics for human identification. Genetic causes are rare. [[SMARCAD1]] gene mutations that affect the shorter skin-specific isoform of [[SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1]] have been described as autosomal dominant. It has been reported in [[dyschromatosis universalis hereditaria]] (DUH) but in this case the gene responsible has not yet been characterised[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=25821732 Kumar S, Bhoyar P, Mahajan BB. A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association. Indian dermatology online journal. 2015 Mar-Apr; 6(2):105-109.](Print) ([http://dx.doi.org/10.4103/2229-5178.153013 Link to article] – subscription may be required.). Acquired causes through trauma or burns are more common. Patients with [[Kindler syndrome]] can acquire it. [[Capecitabine]] can cause it[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=28191373 Cohen PR. Capecitabine-Associated Loss of Fingerprints: Report of Capecitabine-Induced Adermatoglyphia in Two Women with Breast Cancer and Review of Acquired Dermatoglyphic Absence in Oncology Patients Treated with Capecitabine. Cureus. 2017 Jan; 9(1):e969.](Electronic) ([http://dx.doi.org/10.7759/cureus.969 Link to article] – subscription may be required.).
{{refsec}}



SMARCAD1

Thu, 20 Jul 2017 21:04:11 GMT

references ← Older revision Revision as of 21:04, 20 July 2017 Line 1: Line 1: {{GeneticsBox|||KIAA1122}} {{GeneticsBox|||KIAA1122}} -The [[SMARCAD1]] gene at 4q22.3 codes for the 1026 amino acid [[SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1]]. This is a [[DNA helicase]] that is required for [[DNA]] repair and heterochromatin organization. Its intrinsic [[ATP]]-dependent nucleosome-remodeling activity is essential and it is found at replication forks during S phase. It promotes DNA end resection of double-strand breaks (DSBs) following DNA damage.+The [[SMARCAD1]] gene at 4q22.3 codes for the 1026 amino acid [[SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1]]. This is a [[:Category:DNA helicases|DNA helicase]] that is required for [[DNA]] repair and heterochromatin organization. Its intrinsic [[ATP]]-dependent nucleosome-remodeling activity is essential and it is found at replication forks during S phase. It promotes DNA end resection of double-strand breaks (DSBs) following DNA damage. There are three isoforms formed by alternative splicing and the shorter isoform 3 is skin specific. They binds to DNA preferentially in the vicinity of transcriptional start sites. They interact with [[proliferating cell nuclear antigen]] an autoantigen which can have antibodies generated against it in [[SLE]]. By analogy it is likely to have a key role in man in transcriptional regulation via histone acetylation as this is what it does in insects[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=26888216  Doiguchi M, Nakagawa T, Imamura Y, Yoneda M, Higashi M, Kubota K, Yamashita S, Asahara H, Iida M, Fujii S, Ikura T, Liu Z, Nandu T, Kraus WL, Ueda H, Ito T. SMARCAD1 is an ATP-dependent stimulator of nucleosomal H2A acetylation via CBP, resulting in transcriptional regulation. Scientific reports. 2016 Feb; 6:20179.](Electronic) ([http://dx.doi.org/10.1038/srep20179 Link to article] – subscription may be required.).  +Gene expression is permissive breast cancer metastasis[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=27232533  Al Kubaisy E, Arafat K, De Wever O, Hassan AH, Attoub S. SMARCAD1 knockdown uncovers its role in breast cancer cell migration, invasion, and metastasis. Expert opinion on therapeutic targets. 2016 Sep; 20(9):1035-1043.](Print-Electronic) ([http://dx.doi.org/10.1080/14728222.2016.1195059 Link to article] – subscription may be required.). Variants in [[SMARCAD1]] cause: Variants in [[SMARCAD1]] cause: -#Autosomal dominant [[adermatoglyphia]] ({{OMIM|136000}}) (absent finger prints)+#Autosomal dominant [[adermatoglyphia]] ({{OMIM|136000}}) (absent finger prints)[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=21820097  Nousbeck J, Burger B, Fuchs-Telem D, Pavlovsky M, Fenig S, Sarig O, Itin P, Sprecher E. A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. American journal of human genetics. 2011 Aug; 89(2):302-307.](Print-Electronic) ([http://dx.doi.org/10.1016/j.ajhg.2011.07.004 Link to article] – subscription may be required.) #[[Basan syndrome]] ({{OMIM|129200}}, adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalit[...]



Category:Replication

Thu, 20 Jul 2017 20:45:59 GMT

categorise

New page

[[Category:Genetics]]



Replisome

Thu, 20 Jul 2017 20:45:17 GMT

categorise

New page

{{BiochemistryBox}}
The protein complex involved in [[DNA]] replication.
[[Category:Biochemistry]]
[[Category:Protein complexes]]
[[Category:Replication]]



Category:DNA helicases

Thu, 20 Jul 2017 20:39:12 GMT

categorise

New page

{{BiochemistryBox}}
DNA helicases are enzymes essential for unwinding and winding [[DNA]] and thus for [[DNA]] replication and repair in eukaryote cells. There are 31 DNA helicases in man some of which are components of the human [[replisome]]. To synthesize DNA, the double-stranded DNA is unwound by DNA helicases ahead of [[DNA polymerase]]s, forming a replication fork containing two single-stranded templates.
[[Category:enzymes]]



SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1

Thu, 20 Jul 2017 20:31:38 GMT

subclude

New page

{{BiochemistryBox|||ATP-dependent helicase 1, hHEL1, EC:3.6.4.12}}
[[Category:DNA helicases]]
[[Category:Enzymes]]
{{:SMARCAD1}}



Basan syndrome

Thu, 20 Jul 2017 20:31:18 GMT

subclude

New page

{{GeneticsBox|||adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities}}
{{:SMARCAD1}}
[[Category:Genetic syndromes]]



SMARCAD1

Thu, 20 Jul 2017 19:51:15 GMT

New page

{{GeneticsBox|||KIAA1122}}
The [[SMARCAD1]] gene at 4q22.3 codes for the 1026 amino acid [[SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1]]. This is a [[DNA helicase]] that is required for [[DNA]] repair and heterochromatin organization. Its intrinsic [[ATP]]-dependent nucleosome-remodeling activity is essential and it is found at replication forks during S phase. It promotes DNA end resection of double-strand breaks (DSBs) following DNA damage.
Variants in [[SMARCAD1]] cause:
#Autosomal dominant [[adermatoglyphia]] ({{OMIM|136000}}) (absent finger prints)
#[[Basan syndrome]] ({{OMIM|129200}}, adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities)
#*[[Adermatoglyphia]]
#*Transient congenital milia (small white papules, especially on the face, representing retention cysts).
#*Sometimes:
#**Bilateral partial flexion contractures of the fingers and toes
#**Webbing of the toes
#**Palms became rough, thick, and calloused with age and are prone to painful fissures.
#**Childhood blisters on the palms in hot weather



Triclosan

Thu, 20 Jul 2017 19:32:29 GMT

update on toxicity ← Older revision Revision as of 19:32, 20 July 2017 Line 1: Line 1: {{ChemistryBox||5-chloro-2-(2,4-dichlorophenoxy)phenol|[[image:{{PAGENAME}}Molecule.png|thumb|{{PAGENAME}} Molecule]]|[[image:{{PAGENAME}}.png|center]]||}} {{ChemistryBox||5-chloro-2-(2,4-dichlorophenoxy)phenol|[[image:{{PAGENAME}}Molecule.png|thumb|{{PAGENAME}} Molecule]]|[[image:{{PAGENAME}}.png|center]]||}} -Antibacterial agent. Commonly found in consumer anti-bacterial mouth washes, toothpaste, soaps and washes.+Antibacterial agent. Commonly found in consumer anti-bacterial mouth washes, toothpaste, soaps and washes. Banned by [[FDA]] in [[2016]]. This ban will benefit many species of animals, especially those in the marine environment. - +In mammals causes mitochondrial dysfunction[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=28478158  Teplova VV, Belosludtsev KN, Kruglov AG. Mechanism of triclosan toxicity: Mitochondrial dysfunction including complex II inhibition, superoxide release and uncoupling of oxidative phosphorylation. Toxicology letters. 2017 Jun; 275:108-117.](Print-Electronic) ([http://dx.doi.org/10.1016/j.toxlet.2017.05.004 Link to article] – subscription may be required.), but it may not be the human endocrine disrupting compound suspected[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=28128023  Mihaich E, Capdevielle M, Urbach-Ross D, Slezak B. Hypothesis-driven weight-of-evidence analysis of endocrine disruption potential: a case study with triclosan. Critical reviews in toxicology. 2017 Apr; 47(4):263-285.](Print-Electronic) ([http://dx.doi.org/10.1080/10408444.2016.1269722 Link to article] – subscription may be required.) as the evidence is to date indirect, even if worrying[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=26184583  Wang CF, Tian Y. Reproductive endocrine-disrupting effects of triclosan: Population exposure, present evidence and potential mechanisms. Environmental pollution (Barking, Essex : 1987). 2015 Nov; 206:195-201.](Print-Electronic) ([http://dx.doi.org/10.1016/j.envpol.2015.07.001 Link to article] – subscription may be required.). -{{Stub}}+{{Refsec}} - + [[Category: Antiseptics]] [[Category: Antiseptics]] [...]



ANGPTL3

Thu, 20 Jul 2017 07:32:26 GMT

typo ← Older revision Revision as of 07:32, 20 July 2017 Line 5: Line 5: The [[ANGPTL3]] gene at 1p31.3 codes for the 460 amino acid precursor peptide to [[angiopoietin-related protein 3]]. Deficiency leads to familial [[hypobetalipoproteinaemia]] 2 where there is combined [[hypolipidaemia]], with very low plasma levels of [[LDL]] [[cholesterol]], [[HDL]] cholesterol, and [[triglyceride]]s. This may be because [[angiopoietin-related protein 3]] inhibits [[lipoprotein lipase]]. It enhances [[LPL]] cleavage, dissociating LPL from the cell surface[http://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=20581395  Liu J, Afroza H, Rader DJ, Jin W. Angiopoietin-like protein 3 inhibits lipoprotein lipase activity through enhancing its cleavage by proprotein convertases. The Journal of biological chemistry. 2010 Sep 3; 285(36):27561-70.]([http://dx.doi.org/10.1074/jbc.M110.144279 Link to article] – subscription may be required.). The gene has some times been confused with [[ANGPTL5]] in the literature. It is highly expressed in the neurons of the mediobasal [[hypothalamus]] and has a central regulating role in lipid metabolism as is [[ANGPTL4]].  Suppression of hypothalamic ANGPTL3 increases food intake but reduces energy expenditure and fat oxidation, causing weight gain[http://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=25338813  Kim HK, Shin MS, Youn BS, Kang GM, Gil SY, Lee CH, Choi JH, Lim HS, Yoo HJ, Kim MS. Regulation of energy balance by the hypothalamic lipoprotein lipase regulator Angptl3. Diabetes. 2014 Oct 22.](Epub ahead of print) ([http://dx.doi.org/10.2337/db14-0647 Link to article] – subscription may be required.). The [[ANGPTL3]] gene at 1p31.3 codes for the 460 amino acid precursor peptide to [[angiopoietin-related protein 3]]. Deficiency leads to familial [[hypobetalipoproteinaemia]] 2 where there is combined [[hypolipidaemia]], with very low plasma levels of [[LDL]] [[cholesterol]], [[HDL]] cholesterol, and [[triglyceride]]s. This may be because [[angiopoietin-related protein 3]] inhibits [[lipoprotein lipase]]. It enhances [[LPL]] cleavage, dissociating LPL from the cell surface[http://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=20581395  Liu J, Afroza H, Rader DJ, Jin W. Angiopoietin-like protein 3 inhibits lipoprotein lipase activity through enhancing its cleavage by proprotein convertases. The Journal of biological chemistry. 2010 Sep 3; 285(36):27561-70.]([http://dx.doi.org/10.1074/jbc.M110.144279 Link to article] – subscription may be required.). The gene has some times been confused with [[ANGPTL5]] in the literature. It is highly expressed in the neurons of the mediobasal [[hypothalamus]] and has a central regulating role in lipid metabolism as is [[ANGPTL4]].  Suppression of hypothalamic ANGPTL3 increases food intake but reduces energy expenditure and fat oxidation, causing weight gain[http://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=25338813  Kim HK, Shin MS, Youn BS, Kang GM, Gil SY, Lee CH, Choi JH, Lim HS, Yoo HJ, Kim MS. Regulation of energy balance by the hypothalamic lip[...]



Statins

Thu, 20 Jul 2017 07:30:13 GMT

nocebo ← Older revision Revision as of 07:30, 20 July 2017 (One intermediate revision not shown)Line 11: Line 11: *[[Simvastatin]](1988) *[[Simvastatin]](1988) }} }} -Statins are a class of drug that by inhibiting 3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) reductase have revolutionised the treatment of [[hypercholesteraemia]] and secondary pathologies such as ischaemic heart disease [[pubmed:7968073|The Scandinavian Simvastatin Survival Study Group. Randomized trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S).  Lancet 1994;344:1383-1389]],[[pubmed:16214597|Cholesterol Treatment Trialists' (CTT) Collaborators. Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomised trials of statins. Lancet 2005; 366: 1267-78.]]. They are used in [[primary prevention]] in those with various [[hyperlipidaemia]]s and [[secondary prevention]] of ischaemic heart disease and ischaemic stroke.  +Statins are a class of drug that by inhibiting 3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) reductase have revolutionised the treatment of [[hypercholesteraemia]] and secondary pathologies such as ischaemic heart disease [[pubmed:7968073|The Scandinavian Simvastatin Survival Study Group. Randomized trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S).  Lancet 1994;344:1383-1389]],[[pubmed:16214597|Cholesterol Treatment Trialists' (CTT) Collaborators. Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90,056 participants in 14 randomised trials of statins. Lancet 2005; 366: 1267-78.]]. They are used in [[primary prevention]] in those with various [[hyperlipidaemia]]s and [[secondary prevention]] of ischaemic heart disease and ischaemic stroke. Their role in other primary prevention has lead to controversy and ability to evaluate the marked size of the [[nocebo]] effect in the general population as about 25% for a well publicised side effect[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=28476288  Gupta A, Thompson D, Whitehouse A, Collier T, Dahlof B, Poulter N, Collins R, Sever P. Adverse events associated with unblinded, but not with blinded, statin therapy in the Anglo-Scandinavian Cardiac Outcomes Trial-Lipid-Lowering Arm (ASCOT-LLA): a randomised double-blind placebo-controlled trial and its non-randomised non-blind extension phase. Lancet (London, England). 2017 Jun; 389(10088):2473-2481.](Print-Electronic) ([http://dx.doi.org/10.1016/s0140-6736(17)31075-9 Link to article] – subscription may be required.).   ==History== ==History== Line 117: Line 117: [[Category:Drug classes]] [[Category:Cardiology]][[Category:Lipid metabolism]] [[Category:Drug classes]] [[Category:Cardiology]][[Category:Lipid metabolism]] [[Category:Statins]] [[Category:Statins]] - +[[Category:Lipid regulating drugs]] >>>[[statins/indications]] >>>[[statins/indications]] [...]



Evinacumab

Thu, 20 Jul 2017 07:21:06 GMT

in development

New page

{{PharmacologyBox||REGN1500}}
[[Evinacumab]] is a monoclonal antibody in development against against [[angiopoietin-related protein 3]] which lowers serum lipids[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=28538136 Dewey FE, Gusarova V, Dunbar RL, O'Dushlaine C, Schurmann C, Gottesman O, McCarthy S, Van Hout CV, Bruse S, Dansky HM, Leader JB, Murray MF, Ritchie MD, Kirchner HL, Habegger L, Lopez A, Penn J, Zhao A, Shao W, Stahl N, Murphy AJ, Hamon S, Bouzelmat A, Zhang R, Shumel B, Pordy R, Gipe D, Herman GA, Sheu WHH, Lee IT, Liang KW, Guo X, Rotter JI, Chen YI, Kraus WE, Shah SH, Damrauer S, Small A, Rader DJ, Wulff AB, Nordestgaard BG, Tybjærg-Hansen A, van den Hoek AM, Princen HMG, Ledbetter DH, Carey DJ, Overton JD, Reid JG, Sasiela WJ, Banerjee P, Shuldiner AR, Borecki IB, Teslovich TM, Yancopoulos GD, Mellis SJ, Gromada J, Baras A. Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease. The New England journal of medicine. 2017 May.](Print-Electronic) ([http://dx.doi.org/10.1056/nejmoa1612790 Link to article] – subscription may be required.).
[[Category:Monoclonal antibodies]]
[[Category:Lipid regulating drugs]]
[[Category:Unlicensed medicines]]
{{refsec}}



ANGPTL3

Thu, 20 Jul 2017 07:14:17 GMT

update ← Older revision Revision as of 07:14, 20 July 2017 Line 4: Line 4: The [[ANGPTL3]] gene at 1p31.3 codes for the 460 amino acid precursor peptide to [[angiopoietin-related protein 3]]. Deficiency leads to familial [[hypobetalipoproteinaemia]] 2 where there is combined [[hypolipidaemia]], with very low plasma levels of [[LDL]] [[cholesterol]], [[HDL]] cholesterol, and [[triglyceride]]s. This may be because [[angiopoietin-related protein 3]] inhibits [[lipoprotein lipase]]. It enhances [[LPL]] cleavage, dissociating LPL from the cell surface[http://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=20581395  Liu J, Afroza H, Rader DJ, Jin W. Angiopoietin-like protein 3 inhibits lipoprotein lipase activity through enhancing its cleavage by proprotein convertases. The Journal of biological chemistry. 2010 Sep 3; 285(36):27561-70.]([http://dx.doi.org/10.1074/jbc.M110.144279 Link to article] – subscription may be required.). The gene has some times been confused with [[ANGPTL5]] in the literature. It is highly expressed in the neurons of the mediobasal [[hypothalamus]] and has a central regulating role in lipid metabolism as is [[ANGPTL4]].  Suppression of hypothalamic ANGPTL3 increases food intake but reduces energy expenditure and fat oxidation, causing weight gain[http://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=25338813  Kim HK, Shin MS, Youn BS, Kang GM, Gil SY, Lee CH, Choi JH, Lim HS, Yoo HJ, Kim MS. Regulation of energy balance by the hypothalamic lipoprotein lipase regulator Angptl3. Diabetes. 2014 Oct 22.](Epub ahead of print) ([http://dx.doi.org/10.2337/db14-0647 Link to article] – subscription may be required.). The [[ANGPTL3]] gene at 1p31.3 codes for the 460 amino acid precursor peptide to [[angiopoietin-related protein 3]]. Deficiency leads to familial [[hypobetalipoproteinaemia]] 2 where there is combined [[hypolipidaemia]], with very low plasma levels of [[LDL]] [[cholesterol]], [[HDL]] cholesterol, and [[triglyceride]]s. This may be because [[angiopoietin-related protein 3]] inhibits [[lipoprotein lipase]]. It enhances [[LPL]] cleavage, dissociating LPL from the cell surface[http://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=20581395  Liu J, Afroza H, Rader DJ, Jin W. Angiopoietin-like protein 3 inhibits lipoprotein lipase activity through enhancing its cleavage by proprotein convertases. The Journal of biological chemistry. 2010 Sep 3; 285(36):27561-70.]([http://dx.doi.org/10.1074/jbc.M110.144279 Link to article] – subscription may be required.). The gene has some times been confused with [[ANGPTL5]] in the literature. It is highly expressed in the neurons of the mediobasal [[hypothalamus]] and has a central regulating role in lipid metabolism as is [[ANGPTL4]].  Suppression of hypothalamic ANGPTL3 increases food intake but reduces energy expenditure and fat oxidation, causing weight gain[http://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=25338813  Kim HK, Shin [...]



Recording the consultation

Mon, 17 Jul 2017 15:45:32 GMT

← Older revision Revision as of 15:45, 17 July 2017
Line 10: Line 10:
Recordings of consultations - and, indeed, of phone calls made to or from the practice - can also be very useful for the healthcare professional, as a record, and in order to defend themselves against complaints. Of course, in order to record a consultation, the healthcare professional is best advised to seek prior consent.  
Recordings of consultations - and, indeed, of phone calls made to or from the practice - can also be very useful for the healthcare professional, as a record, and in order to defend themselves against complaints. Of course, in order to record a consultation, the healthcare professional is best advised to seek prior consent.  
-
Many [[http://www.ganfyd.org/index.php?title=Recording_streaming_audio|systems]] are available for recording audio and or audiovisual content digitally.
+
Many [[Recording streaming audio|systems]] are available for recording audio and or audiovisual content digitally.
If it becomes practice policy that all phone calls and consultations (unless the patient requests otherwise) are recorded, this should be explained in the [[Information about GP practices|practice leaflet, posters, and website]].  
If it becomes practice policy that all phone calls and consultations (unless the patient requests otherwise) are recorded, this should be explained in the [[Information about GP practices|practice leaflet, posters, and website]].  



Talk:Recording the consultation

Mon, 17 Jul 2017 15:44:53 GMT

Created page with "This is a recurring issue on medical forums - sometimes with doctors outraged at patients recording the consultation covertly. I thought we had content already at ganfyd on thi..."

New page

This is a recurring issue on medical forums - sometimes with doctors outraged at patients recording the consultation covertly.

I thought we had content already at ganfyd on this, but couldn't find it when I searched for it, so I've knocked this up quickly. If you can find the content I thought we already had, we can link to it here. But if it does exist, we need to make it easier to find.

--[[User:Penglish|Penglish]] 16:44, 17 July 2017 (BST)



Recording the consultation

Mon, 17 Jul 2017 15:42:58 GMT

Created page with "{{stub}} This page relates to audio or audiovisual recording of consultations, not to the maintenance clinical records. Consultations may be recorded by either the healthcare p..."

New page

{{stub}}
This page relates to audio or audiovisual recording of consultations, not to the maintenance clinical records.

Consultations may be recorded by either the healthcare professional, or the patient.

There have been concerns expressed by healthcare professionals about patients recording consultations covertly. While this may upset healthcare workers, there is little that can be done about it. Most people carry a mobile phone which can be used for the purpose. An "if you can't beat them, join them" approach may be more appropriate.

Recordings of consultations can be very useful for the patient, who can use it to remind themself what was said, and to share it with their family or carers.

Recordings of consultations - and, indeed, of phone calls made to or from the practice - can also be very useful for the healthcare professional, as a record, and in order to defend themselves against complaints. Of course, in order to record a consultation, the healthcare professional is best advised to seek prior consent.

Many [[http://www.ganfyd.org/index.php?title=Recording_streaming_audio|systems]] are available for recording audio and or audiovisual content digitally.

If it becomes practice policy that all phone calls and consultations (unless the patient requests otherwise) are recorded, this should be explained in the [[Information about GP practices|practice leaflet, posters, and website]].

It is relatively simple these days to offer patients a copy of the recording for their own use: offering to do this makes it unnecessary to be concerned about covert recording by patients.

==External links==
*[http://www.gponline.com/medico-legal-patients-record-consultations/article/1227228 Medico-legal - Patients who record their consultations (GP magazine)]
*[https://www.medicalprotection.org/uk/practice-matters-issue-7/digital-dilemmas---patients-recording-consultations Digital dilemmas - Patients recording consultations (from MPS)]



Tisagenlecleucel

Sun, 16 Jul 2017 11:36:38 GMT

← Older revision Revision as of 11:36, 16 July 2017 (One intermediate revision not shown)Line 1: Line 1: -{{PharmacologyBox||CART-19}}+{{PharmacologyBox||CTL019, CART-19, tisagenlecleucel-T}} -[[CTL019]] is a chimeric antigen receptor T-cell immunotherapy (CAR-T cell therapy) in development for [[acute lymphoblastic leukaemia]][https://www.novartis.com/news/media-releases/novartis-presents-results-first-global-registration-trial-ctl019-pediatric-and Novartis Press release Dec 2016], [[diffuse large B-cell lymphoma]] (DLBCL) and [[follicular lymphoma]][https://www.novartis.com/news/media-releases/novartis-announces-new-ctl019-study-data-demonstrating-overall-response-adult Novartis Press release Dec 2015].+[[Tisagenlecleucel]] is a chimeric antigen receptor T-cell immunotherapy (CAR-T cell therapy) in development for [[acute lymphoblastic leukaemia]][https://www.novartis.com/news/media-releases/novartis-presents-results-first-global-registration-trial-ctl019-pediatric-and Novartis Press release Dec 2016], [[diffuse large B-cell lymphoma]] (DLBCL) and [[follicular lymphoma]][https://www.novartis.com/news/media-releases/novartis-announces-new-ctl019-study-data-demonstrating-overall-response-adult Novartis Press release Dec 2015]. It is expected to be licensed in mid 2017 and will cost many US$100,000 for a one shot therapy that has an impressive apparent cure rate but some risk[https://www.fda.gov/downloads/AdvisoryCommittees/CommitteesMeetingMaterials/Drugs/OncologicDrugsAdvisoryCommittee/UCM566166.pdf FDA briefing document tisagenlecleucel  July 2017 . Downloaded 16.6.17]. The response rate is over 80% with almost 50% chance of severe short term sided effects such as life-threatening cytokine release syndrome and at this time unknown long term risks as a gene and immunological therapy.  +   +==Product design==  +Infusion of genetically-modified antigen-specific autologous T cells. These have been programmed to target cells that express [[CD19]] antigen as expressed on the surface of B cells and B cell tumours. Tisagenlecleucel consists of an extracellular portion that has a murine anti-CD19 single chain antibody fragment and an intracellular portion that contains T cell signalling and co-stimulatory domains.   {{refsec}} {{refsec}} [[Category:Biologics]] [[Category:Biologics]] [[Category:Immunotherapy]] [[Category:Immunotherapy]] -[[Category:Unlicensed medicines]]  [[Category:CAR-T cell therapies]] [[Category:CAR-T cell therapies]] [...]



CTL019

Sun, 16 Jul 2017 11:15:01 GMT

moved [[CTL019]] to [[Tisagenlecleucel]] now has a generic name and is about to get FDA approvial




Glutathione reductase

Sat, 15 Jul 2017 22:46:49 GMT

in passing

New page

{{BiochemistryBox}}

While this term usually refers to the mitochondrial enzyme there are a number of others that bind one [[FAD]] per catalytic subunit and have significant glutathione reductase activity:
*[[Glutathione reductase, mitochondrial]]
**2 glutathione + NADP+ => glutathione disulfide + NADPH.
*[[Thioredoxin reductase 1, cytoplasmic]]
*[[Thioredoxin reductase 3]]
[[Category:Enzymes]]



Brown–Vialetto–Van Laere syndrome

Sat, 15 Jul 2017 20:03:43 GMT

History ← Older revision Revision as of 20:03, 15 July 2017 Line 1: Line 1: -{{GeneticsBox}}+{{GeneticsBox}}{{KeyPointsBox|Progressive:  +*Sensorineural deafness  +*Progressive bulbar palsy  +*Described [[1894]] Brown CH (1894). "Infantile amyotrophic lateral sclerosis of the family type". J Nerv Ment Dis. 21: 707–716  +*Understanding one of causes[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=20206331  Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. American journal of human genetics. 2010 Mar; 86(3):485-489.](Print-Electronic) ([http://dx.doi.org/10.1016/j.ajhg.2010.02.006 Link to article] – subscription may be required.) and potential importance [[riboflavin]][https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=21110228  Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. Journal of inherited metabolic disease. 2011 Feb; 34(1):159-164.](Print-Electronic) ([http://dx.doi.org/10.1007/s10545-010-9242-z Link to article] – subscription may be required.) occurred about [[2010]]  +}} Brown–Vialetto–Van Laere syndrome is characterised by[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=26973221  Jaeger B, Bosch AM. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. Journal of inherited metabolic disease. 2016 Jul; 39(4):559-564.](Print-Electronic) ([http://dx.doi.org/10.1007/s10545-016-9924-2 Link to article] – subscription may be required.)[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=23107375  Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJ. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet journal of rare diseases. 2012 ; 7:83.](Electronic) ([http://dx.doi.org/10.1186/1750-1172-7-83 Link to article] – subscription may be required.): Brown–Vialetto–Van Laere syndrome is characterised by[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=26973221  Jaeger B, Bosch AM. Clinical presentation and outcome of riboflavin transporter deficiency: mini review[...]



Solute carrier family 52, riboflavin transporter, member 1

Sat, 15 Jul 2017 19:47:41 GMT

subclude

New page

{{BiochemistryBox|||Porcine endogenous retrovirus A receptor 2, PERV-A receptor 2, protein GPR172B, riboflavin transporter 1, hRFT1}}
{{:SLC52A1}}
[[Category: Membrane proteins]]
[[Category: Transport proteins]]



SLC52A1

Sat, 15 Jul 2017 19:46:43 GMT

gene

New page


{{GeneticsBox|||GPR172B, PAR2, RFT1}}
[[Category:Genes]]

The [[SLC52A1]] gene codes for the 448 amino acid [[solute carrier family 52, riboflavin transporter, member 1]]. Defects cause [[riboflavin deficiency]] in the baby (RBFVD, {{OMIM|615026}}). The protein can act as a receptor for cell entry of some mammalian retroviruses.



Brown–Vialetto–Van Laere syndrome

Sat, 15 Jul 2017 19:38:16 GMT

tidy up ← Older revision Revision as of 19:38, 15 July 2017 Line 6: Line 6: #Brown–Vialetto–Van Laere syndrome 1 (BVVLS1, {{OMIM|211530}}) #Brown–Vialetto–Van Laere syndrome 1 (BVVLS1, {{OMIM|211530}}) #*Caused by mutations in the [[SLC52A3]] gene at 20p13 that codes for [[solute carrier family 52, riboflavin transporter, member 3]]. #*Caused by mutations in the [[SLC52A3]] gene at 20p13 that codes for [[solute carrier family 52, riboflavin transporter, member 3]].  +#*Usual phenotype sensorineural deafness, followed by pontobulbar palsy, respiratory compromise and generalised limb weakness #Brown–Vialetto–Van Laere syndrome 2 (BVVLS2, {{OMIM|614707}}) #Brown–Vialetto–Van Laere syndrome 2 (BVVLS2, {{OMIM|614707}}) #*Caused by mutations in the [[SLC52A2]] gene at 8q24.3 that codes for [[solute carrier family 52, riboflavin transporter, member 2]]. #*Caused by mutations in the [[SLC52A2]] gene at 8q24.3 that codes for [[solute carrier family 52, riboflavin transporter, member 2]].  +#*Usual phenotype has ataxic gait as the presenting symptom, with a higher likelihood of sensorimotor neuropathy, optic atrophy, weakness of the upper limbs and neck and late-onset deafness. -[[SLC52A1]] gene mutations also cause riboflavin deficiency (RBFVD, {{OMIM|615026}} but this seems to be manifest by neonatal hypoglycaemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels.+[[SLC52A1]] gene mutations (in the mother) also cause riboflavin deficiency in the baby (RBFVD, {{OMIM|615026}} but this seems to be manifest by neonatal hypoglycaemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels. -Confusing it is possible to have presentations without the deafness, in which case thje presentation is like childhood bulbar motor neuron disease ([[Fazio-Londe disease]]). The early onset in infants of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves, spinal motor nerves and, less commonly, upper motor neurons are sometimes affected raises the possibility of mutations in any of the three riboflavin transporters.+Confusing it is possible to have presentations without the deafness, in which case the presentation has the phenotype of childhood bulbar motor neuron disease ([[Fazio-Londe disease]]). This has  early onset in infants of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves, spinal motor nerves and, less commonly, upper motor neurons are sometimes affected. -It is arguable that accordingly a better term is '''riboflavin transporter deficiency neuronopathy''' and this is autosomal recessive. In most of those affected sensorineural deafness, which is usually progressive and severe precedes a more general neuropathy by one to two years in an infant or child less than 8 years. In some an inter-current event, usually an injury or infection, appears to precipitate the initial manifestations or worsen the condition. An carrier mother could cause the condition in her baby if she had inadequate riboflavin i[...]



Solute carrier family 52, riboflavin transporter, member 2

Sat, 15 Jul 2017 16:08:12 GMT

subclude

New page

{{BiochemistryBox|||Porcine endogenous retrovirus A receptor 1, PERV-A receptor 1, protein GPR172A, riboflavin transporter 3, hRFT3}}
{{:SLC52A2}}
[[Category:Membrane proteins]]
[[Category:Transport proteins]]



SLC52A2

Sat, 15 Jul 2017 16:06:26 GMT

for subclusion

New page


{{GeneticsBox|||GPR172A, PAR1, RFT3}}
[[Category:Genes]]

The [[SLC52A2]] gene at 8q24.3 codes for the 445 amino acid [[solute carrier family 52, riboflavin transporter, member 2]]. This is a transporter for [[riboflavin]]. Activity is inhibited by riboflavin analogs, such as lumiflavin and flavin mononucleotide (FMN). It is known to be the cell receptor for some mammalian retroviruses. There are two other riboflavin transporters coded by [[SLC52A1]] and [[SLC52A3]].

Defects in the gene can cause a [[riboflavin transporter deficiency neuronopathy]] manifest as the [[Brown–Vialetto–Van Laere syndrome]] phenotype.



Solute carrier family 52, riboflavin transporter, member 3

Sat, 15 Jul 2017 15:59:04 GMT

subclude

New page

{{BiochemistryBox|||riboflavin transporter 2, hRFT2}}
{{:SLC52A3}}
[[Category:Membrane proteins]]
[[Category:Transport proteins]]



SLC52A3

Sat, 15 Jul 2017 15:57:05 GMT

for subclusion

New page


{{GeneticsBox|||C20orf54, RFT2, RFVT3}}
[[Category:Genes]]

The [[SLC52A3]] gene at 20p13 codes for [[solute carrier family 52, riboflavin transporter, member 3]]. This is the intestinal transporter for [[riboflavin]], which must be obtained as a nutrient via intestinal absorption. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN), flavin adenine dinucleotide (FAD), by [[methylene blue]], and to a lesser extent by [[amiloride]]. Two isoforms are known. There are two other riboflavin transporters coded by [[SLC52A1]] and [[SLC52A2]].

Defects in the gene can cause a [[riboflavin transporter deficiency neuronopathy]] usually manifest as the [[Brown–Vialetto–Van Laere syndrome]] phenotype, but sometimes [[Fazio-Londe disease]]. Complete dysfunction is known to be fatal in mammals.



Motor neurone disease

Sat, 15 Jul 2017 15:44:48 GMT

mimic

← Older revision Revision as of 15:44, 15 July 2017
Line 90: Line 90:
*[[Bulbospinal muscular atrophy]] (Kennedy's syndrome)
*[[Bulbospinal muscular atrophy]] (Kennedy's syndrome)
*[[Multifocal motor neuropathy]]
*[[Multifocal motor neuropathy]]
-
 
+
*[[Riboflavin transporter deficiency neuronopathy]] (eg deafness and bulbar palsy as in [[Brown–Vialetto–Van Laere syndrome]])
==Treatment==
==Treatment==
*Supportive
*Supportive



Brown–Vialetto–Van Laere syndrome

Sat, 15 Jul 2017 15:42:27 GMT

more similar conditions ← Older revision Revision as of 15:42, 15 July 2017 Line 11: Line 11: [[SLC52A1]] gene mutations also cause riboflavin deficiency (RBFVD, {{OMIM|615026}} but this seems to be manifest by neonatal hypoglycaemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels. [[SLC52A1]] gene mutations also cause riboflavin deficiency (RBFVD, {{OMIM|615026}} but this seems to be manifest by neonatal hypoglycaemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels. -Confusing it is possible to have presentations without the deafness, in which case thje presentation is like childhood bulbar motor neuron disease. The early onset in infants of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves, spinal motor nerves and, less commonly, upper motor neurons are sometimes affected raises the possibility of mutations in any of the three riboflavin transporters.+Confusing it is possible to have presentations without the deafness, in which case thje presentation is like childhood bulbar motor neuron disease ([[Fazio-Londe disease]]). The early onset in infants of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves, spinal motor nerves and, less commonly, upper motor neurons are sometimes affected raises the possibility of mutations in any of the three riboflavin transporters. It is arguable that accordingly a better term is '''riboflavin transporter deficiency neuronopathy''' and this is autosomal recessive. In most of those affected sensorineural deafness, which is usually progressive and severe precedes a more general neuropathy by one to two years in an infant or child less than 8 years. In some an inter-current event, usually an injury or infection, appears to precipitate the initial manifestations or worsen the condition. An carrier mother could cause the condition in her baby if she had inadequate riboflavin in her diet during pregnancy. The motor neuronopathy is manifest as proximal and distal limb weakness, often with severe distal wasting and breathing problems due to paralysis of the diaphragm, and the sensory neuronopathy is manifest as gait ataxia. The cranial neuronopathy is manifest as optic atrophy and bulbar palsy as well as the sensorineural deafness.   It is arguable that accordingly a better term is '''riboflavin transporter deficiency neuronopathy''' and this is autosomal recessive. In most of those affected sensorineural deafness, which is usually progressive and severe precedes a more general neuropathy by one to two years in an infant or child less than 8 years. In some an inter-current event, usually an injury or infection, appears to precipitate the initial manifestations or worsen the condition. An carrier mother could cause the condition in her baby if she had inadequate riboflavin in her diet during pregnancy. The motor neu[...]



Riboflavin

Sat, 15 Jul 2017 15:40:30 GMT

ribofavin deficiency turns out to be under recognised

← Older revision Revision as of 15:40, 15 July 2017
Line 1: Line 1:
{{BiochemistryBox||Vitamin B2|[[image:{{PAGENAME}}Molecule.png|thumb|{{PAGENAME}} Molecule]]|[[image:{{PAGENAME}}.png|center]]}}{{EtymologyBox|Latin:''flavus'' - yellow}}
{{BiochemistryBox||Vitamin B2|[[image:{{PAGENAME}}Molecule.png|thumb|{{PAGENAME}} Molecule]]|[[image:{{PAGENAME}}.png|center]]}}{{EtymologyBox|Latin:''flavus'' - yellow}}
-
Riboflavin is Vitamin B2 (Riboflavine E101). It is not generally used in isolation therapeutically as deficiency states will be shared with other B group vitamins.
+
Riboflavin is Vitamin B2 (Riboflavine E101). It is not generally used in isolation therapeutically as [[riboflavin deficiency]] states will be shared with other B group vitamins. However a childhood presentation of a motor/cranial/sensory neuropathy should raise the possibility of [[riboflavin transporter deficiency neuronopathy]]. This can rarely present into middle age and is treated by high doses of riboflavin, typically in adults up to 1200mg a day. The condition has a high mortality untreated due to respiratory paralysis. Accordingly it should be considered in presentations with rapid or subacute onset cranial neuropathy (eg sensory deafness and bulbar paralysis) as it is easy to treat and with advances in genetics getting easier to diagnose.
[[Category:Vitamins]][[Category:Vitamin B group]][[Category:Food additives]]
[[Category:Vitamins]][[Category:Vitamin B group]][[Category:Food additives]]
-
{{draft}}
 



Fazio-Londe disease

Sat, 15 Jul 2017 15:38:32 GMT

categorise

New page

{{GeneticsBox}}
Fazio-Londe disease ({{OMIM|211500}}, progressive bulbar palsy of childhood) is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency. It is a type of [[riboflavin transporter deficiency neuronopathy]] being essentially caused by a [[SLC52A3]] genotype that does not present with deafness but rather a bulbar neuropathy in contrast to [[Brown–Vialetto–Van Laere syndrome‎]].
[[Category:Genetic syndromes]]
[[Category:Neurology]]



Riboflavin deficiency

Sat, 15 Jul 2017 15:30:46 GMT

mention

New page

{{SubjectBox}}
While usually not isolated it can occur in [[riboflavin transporter deficiency neuronopathy]] ([[Brown–Vialetto–Van Laere syndrome‎]], [[Fazio-Londe disease]]) and [[multiple acyl-CoA dehydrogenase deficiency]].
[[Category:Vitamins]]
[[Category:Vitamin B group]]
[[Category:Neurology]]



Riboflavin transporter deficiency neuronopathy

Sat, 15 Jul 2017 15:24:37 GMT

redirect

New page

#redirect[[Brown–Vialetto–Van Laere syndrome‎]]
[[Category:Neurology]]



Brown–Vialetto–Van Laere syndrome

Sat, 15 Jul 2017 15:12:01 GMT

underdiagnosed and missing d New page{{GeneticsBox}} Brown–Vialetto–Van Laere syndrome is characterised by[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=26973221 Jaeger B, Bosch AM. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. Journal of inherited metabolic disease. 2016 Jul; 39(4):559-564.](Print-Electronic) ([http://dx.doi.org/10.1007/s10545-016-9924-2 Link to article] – subscription may be required.)[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=23107375 Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJ. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet journal of rare diseases. 2012 ; 7:83.](Electronic) ([http://dx.doi.org/10.1186/1750-1172-7-83 Link to article] – subscription may be required.): *Sensorineural deafness *Progressive bulbar palsy. Onset, while classically in children, can have presentation up to age 50. The association of deafness and bulbar palsy is important to recognise as high dose [[riboflavin]] can be life saving[https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=27777325 Bashford JA, Chowdhury FA, Shaw CE. Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. Practical neurology. 2017 Jan; 17(1):53-56.](Print-Electronic) ([http://dx.doi.org/10.1136/practneurol-2016-001488 Link to article] – subscription may be required.). This is because the commonest causes are mutations of the riboflavin transporters: #Brown–Vialetto–Van Laere syndrome 1 (BVVLS1, {{OMIM|211530}}) #*Caused by mutations in the [[SLC52A3]] gene at 20p13 that codes for [[solute carrier family 52, riboflavin transporter, member 3]]. #Brown–Vialetto–Van Laere syndrome 2 (BVVLS2, {{OMIM|614707}}) #*Caused by mutations in the [[SLC52A2]] gene at 8q24.3 that codes for [[solute carrier family 52, riboflavin transporter, member 2]]. [[SLC52A1]] gene mutations also cause riboflavin deficiency (RBFVD, {{OMIM|615026}} but this seems to be manifest by neonatal hypoglycaemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels. Confusing it is possible to have presentations without the deafness, in which case thje presentation is like childhood bulbar motor neuron disease. The early onset in infants of cranial nerve palsies, usually involving the motor components of the seventh and ninth to[...]



Cicatricial pemphigoid

Sat, 15 Jul 2017 14:18:18 GMT

typo ← Older revision Revision as of 14:18, 15 July 2017 Line 3: Line 3: '''Cicatricial pemphigoid (benign mucosal pemphigoid, mucous membrane pemphigoid, MMP)''' is an immune-mediated subepithelial blistering disease that also tends to affects the elderly like [[pemphigoid]]. The mucosa only is involved, and while commonly gingiva and buccal mucosa, conjunctival scarring can lead to blindness. It thus tends to be more serious than bullous phemigoid due to scarring and complications such as blindness and strictures may be avoided by prompt aggressive treatment. '''Cicatricial pemphigoid (benign mucosal pemphigoid, mucous membrane pemphigoid, MMP)''' is an immune-mediated subepithelial blistering disease that also tends to affects the elderly like [[pemphigoid]]. The mucosa only is involved, and while commonly gingiva and buccal mucosa, conjunctival scarring can lead to blindness. It thus tends to be more serious than bullous phemigoid due to scarring and complications such as blindness and strictures may be avoided by prompt aggressive treatment. -==Aetiology==+===Aetiology=== IgG or IgA, occasionally IgG4[http://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=17344074  Suresh L, Kumar V. Significance of IgG4 in the diagnosis of mucous membrane pemphigoid. Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics. 2007 Sep; 104(3):359-62.]([http://dx.doi.org/10.1016/j.tripleo.2006.12.007 Link to article] – subscription may be required.) against basement membrane antigens can be identified by [[immunofluorescence]] in most cases. The majority is to the 180 kD bullous pemphigoid antigen (BP180), with a quarter to the 230 kD bullous pemphigoid antigen (BPAg1)[http://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=15562906  Carrozzo M, Cozzani E, Broccoletti R, Carbone M, Pentenero M, Arduino P, Parodi A, Gandolfo S. Analysis of antigens targeted by circulating IgG and IgA antibodies in patients with mucous membrane pemphigoid predominantly affecting the oral cavity. Journal of periodontology. 2004 Oct; 75(10):1302-8.]. However other antigens such as [[beta4 integrin|β4 integrin]] or [[laminin 5]] are involved in some cases, with the former being particularly common with ocular involvement[http://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=16403100  Oyama N, Setterfield JF, Powell AM, Sakuma-Oyama Y, Albert S, Bhogal BS, Vaughan RW, Kaneko F, Challacombe SJ, Black MM. Bullous pemphigoid antigen II (BP180) and its soluble extracellular domains are major autoantigens in mucous membran[...]



Pemphigoid

Sat, 15 Jul 2017 14:17:08 GMT

improve ← Older revision Revision as of 14:17, 15 July 2017 Line 1: Line 1: {{SubjectBox}} {{SubjectBox}} - +==Bullous Pemphigoid== -'''Pemphigoid''' is a reasonably common immunological skin condition in the elderly characterised by:+{{:Bullous pemphigoid}} -*Subepidermal [[bulla]]e+==Cicatricial Pemphigoid== -*Antibody to basement membrane on [[immunofluorescence]]+{{:Cicatricial pemphigoid}} -*Initial onset usually focal eczema or uticarial after minor trauma+==Pemphigoid Gestationis== -*Flexural bullae, tense and may contain blood+{{:Pemphigoid gestationis}} - +{{refsec}} -see also [[cicatricial phemphigoid]] if mucosal involvement prominent.+ -==Treatment==+ -Moderate to high doses oral [[corticosteroids]]+ - + [[Category:Vesico-blistering diseases]][[Category:Dermatology]] [[Category:Vesico-blistering diseases]][[Category:Dermatology]] -{{draft}}  [...]



Bullous pemphigoid

Sat, 15 Jul 2017 14:16:30 GMT

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[[Category:Vesico-blistering diseases]][[Category:Dermatology]]



Pemphigoid gestationis

Sat, 15 Jul 2017 14:16:22 GMT

Created page with "{{SubjectBox}} Pemphigoid gestationis (Herpes gestationis, PG) is found during pregnancy or in those afflicted by trophoblastic tumours. Neonates can have..."

New page

{{SubjectBox}}

Pemphigoid gestationis (Herpes gestationis, PG) is found during pregnancy or in those afflicted by trophoblastic tumours. Neonates can have the condition transiently.
*Spread from umblicus
*Second trimester usually
*Postpartum flare common
*Usually BP180
===Treatment===
*Oral corticosteroids
*Monitor for intrauterine growth retardation

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[[Category:Obstetics]]

[[Category:Vesico-blistering diseases]][[Category:Dermatology]]



Bullous pemphigoid

Sat, 15 Jul 2017 14:13:40 GMT

for subclusion

New page

{{SubjectBox}}

Bullous [[pemphigoid]] (BP) is a reasonably common immunological skin condition in the elderly characterised by:
*Subepidermal [[bulla]]e
*Antibody to basement membrane on [[immunofluorescence]]
**Usually to [[BPAG2]] collagen XVIII ([[BP180]]), [[BPAG1]]([[BP230]]) and [[NC16A]] (non-collagenous transmembrane domain of BP180)
*Initial onset usually focal eczema or uticarial rash after minor trauma
*Flexural bullae, tense and may contain blood
*Spread from limbs to trunk
see also [[cicatricial pemphigoid]] if mucosal involvement prominent.
===Epidemiology===
*Average ago onset 80
*Incidence in UK 4.3/100,000
*Associations:
**[[Stroke]]
**[[Parkinsons disease]]
**[[Dementia]]
**[[:Category:Diuretics|Diuretics]]

===Treatment===
*In the elderly [[:Category:tetracyclines|tetracyclines]] are now first choice in mild bullous phemphigoid as doxycycline 200 mg/day is superior to oral [[prednisolone]] 0.5 mg/kg/day.
*Moderate to high doses oral [[corticosteroids]][https://www.ncbi.nlm.nih.gov/sites/entrez?itool=abstractplus&db=pubmed&cmd=Retrieve&dopt=abstractplus&list_uids=28406394 Chalmers JR, Wojnarowska F, Kirtschig G, Mason J, Childs M, Whitham D, Harman K, Chapman A, Walton S, Schmidt E, Godec TR, Nunn AJ, Williams HC. A randomised controlled trial to compare the safety, effectiveness and cost-effectiveness of doxycycline (200 mg/day) with that of oral prednisolone (0.5 mg/kg/day) for initial treatment of bullous pemphigoid: the Bullous Pemphigoid Steroids and Tetracyclines (BLISTER) trial. Health technology assessment (Winchester, England). 2017 Mar; 21(10):1-90.](Print) ([http://dx.doi.org/10.3310/hta21100 Link to article] – subscription may be required.)
*In more severe immunosuppressive therapy may be necessary

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