Database : MEDLINE
Search on : Skin and Abnormalities [Words]
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[PMID]: 29524484
[Au] Autor:Shivaprasad C; Amit G; Anish K; Rakesh B; Anupam B; Aiswarya Y
[Ad] Address:Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India. Electronic address: shvprsd.c@gmail.com.
[Ti] Title:Clinical correlates of sudomotor dysfunction in patients with type 2 diabetes and peripheral neuropathy.
[So] Source:Diabetes Res Clin Pract;, 2018 Mar 07.
[Is] ISSN:1872-8227
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract:AIMS: To investigate the factors associated with abnormal electrochemical skin conductance (ESC) in patients with type 2 diabetes mellitus (T2D) and early diabetic peripheral neuropathy (DPN). METHODS: We recruited 523 consecutive patients with T2D (median age: 50 [interquartile range: 16] years; median T2D duration: 4 [5] years). Sudomotor dysfunction was defined as an ESC <60 µS, and DPN as a neuropathy disability score (NDS) ≥6. Logistic regression was performed to determine the predictors of sudomotor dysfunction in patients with DPN. RESULTS: The prevalence of sudomotor dysfunction was 29% for all patients and 84.5% for patients with DPN. A significant negative correlation was observed between the NDS and ESC measurements (r = -0.52, p < 0.0001). In the univariate analysis, abnormal ESC measures were associated with age, diabetes duration, glycated hemoglobin, diabetic retinopathy, insulin therapy, and foot abnormalities. In the multivariate analysis, ESC abnormalities were associated with age, diabetes duration, glycated hemoglobin levels, insulin therapy, and foot deformities. There was a robust association between foot deformities and abnormal ESC (p = 0.049; odds ratio = 16.02) in patients with DPN. CONCLUSION: Sudomotor dysfunction is highly prevalent in patients with T2D, especially in those with DPN. Various diabetes-related factors were linked to lower ESC values, indicating an association between chronic hyperglycemia and sudomotor function. We also observed a strong relationship between foot deformities and ESC abnormalities. We conclude that the factors associated with DPN are also relevant to sudomotor dysfunction.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  2 / 17477 MEDLINE  
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[PMID]: 29506558
[Au] Autor:Habuka M; Wada Y; Kurosawa Y; Yamamoto S; Tani Y; Ohashi R; Ajioka Y; Nakano M; Narita I
[Ad] Address:Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, Niigata, 951-8510, Japan.
[Ti] Title:Fatal visceral disseminated varicella zoster infection during initial remission induction therapy in a patient with lupus nephritis and rheumatoid arthritis-possible association with mycophenolate mofetil and high-dose glucocorticoid therapy: a case report.
[So] Source:BMC Res Notes;11(1):165, 2018 Mar 05.
[Is] ISSN:1756-0500
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Visceral disseminated varicella zoster viral (VZV) infection is a rare but severe complication with a high mortality rate in immunosuppressed individuals, and an increased susceptibility to VZV has been reported in kidney transplant recipients who are treated with mycophenolate mofetil (MMF). In Japan, MMF is currently approved for patients with lupus nephritis (LN) and data to indicate its optimal dosage are still insufficient. CASE PRESENTATION: A 46-year-old Japanese woman with rheumatoid arthritis was diagnosed as having systemic lupus erythematosus (SLE) and LN class III (A/C). Although initial remission-induction therapy with prednisolone and tacrolimus was started, her serum creatinine level and urinary protein excretion were elevated. Methylprednisolone pulse therapy was added, and tacrolimus was switched to MMF. Two months after admission when she was taking 40 mg of PSL and 1500 mg of MMF daily, she suddenly developed upper abdominal pain and multiple skin blisters, and disseminated visceral VZV infection was diagnosed. Laboratory examinations demonstrated rapid exacerbation of severe acute liver failure and coagulation abnormalities despite immediate multidisciplinary treatment, and she died of hemorrhagic shock 7 days after the onset of abdominal pain. A serum sample collected at the time of admission revealed that she had recursive VZV infection. CONCLUSIONS: MMF together with high-dose glucocorticoid therapy may increase the risk of VZV infection in Asian patients with SLE. Accumulation of evidence for parameters of safety, such as the area under the blood concentration-time curve of mycophenolic acid, should be urgently considered in order to establish a safer protocol for remission induction therapy in Asian patients with LN.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Process
[do] DOI:10.1186/s13104-018-3271-3

  3 / 17477 MEDLINE  
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[PMID]: 29506540
[Au] Autor:Kromann AB; Ousager LB; Ali IKM; Aydemir N; Bygum A
[Ad] Address:Department of Dermatology and Allergy Centre, J.B. Winsløws Vej 4 , Entrance 142, 5000, Odense C, Denmark.
[Ti] Title:Pigmentary mosaicism: a review of original literature and recommendations for future handling.
[So] Source:Orphanet J Rare Dis;13(1):39, 2018 Mar 05.
[Is] ISSN:1750-1172
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. We have compiled information on previous cases of pigmentary mosaicism aiming to optimize the handling of patients with this condition. Our study is based on a database search in PubMed containing papers written in English, published between January 1985 and April 2017. The search yielded 174 relevant and original articles, detailing a total number of 651 patients. RESULTS: Forty-three percent of the patients exhibited hyperpigmentation, 50% exhibited hypopigmentation, and 7% exhibited a combination of hyperpigmentation and hypopigmentation. Fifty-six percent exhibited extracutaneous manifestations. The presence of extracutaneous manifestations in each subgroup varied: 32% in patients with hyperpigmentation, 73% in patients with hypopigmentation, and 83% in patients with combined hyperpigmentation and hypopigmentation. Cytogenetic analyses were performed in 40% of the patients: peripheral blood lymphocytes were analysed in 48%, skin fibroblasts in 5%, and both analyses were performed in 40%. In the remaining 7% the analysed cell type was not specified. Forty-two percent of the tested patients exhibited an abnormal karyotype; 84% of those presented a mosaic state and 16% presented a non-mosaic structural or numerical abnormality. In patients with extracutaneous manifestations, 43% of the cytogenetically tested patients exhibited an abnormal karyotype. In patients without extracutaneous manifestations, 32% of the cytogenetically tested patients exhibited an abnormal karyotype. CONCLUSION: We recommend a uniform parlance when describing the clinical picture of pigmentary mosaicism. Based on the results found in this review, we recommend that patients with pigmentary mosaicism undergo physical examination, highlighting with Wood's light, and karyotyping from peripheral blood lymphocytes and skin fibroblasts. It is important that both patients with and without extracutaneous manifestations are tested cytogenetically, as the frequency of abnormal karyotype in the two groups seems comparable. According to the results only a minor part of patients, especially those without extracutaneous manifestations, are tested today reflecting a need for change in clinical practice.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.1186/s13023-018-0778-6

  4 / 17477 MEDLINE  
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[PMID]: 29246495
[Au] Autor:Lee S; Bazick H; Chittoor-Vinod V; Al Salihi MO; Xia G; Notterpek L
[Ad] Address:Department of Neuroscience, College of Medicine, University of Florida, Gainesville, Florida.
[Ti] Title:Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients.
[So] Source:Am J Pathol;188(3):728-738, 2018 Mar.
[Is] ISSN:1525-2191
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:A common form of hereditary autosomal dominant demyelinating neuropathy known as Charcot-Marie-Tooth disease type 1A (CMT1A) is linked with duplication of the peripheral myelin protein 22 (PMP22) gene. Although studies from animal models have led to better understanding of the pathobiology of these neuropathies, there continues to be a gap in the translation of findings from rodents to humans. Because PMP22 was originally identified in fibroblasts as growth arrest specific gene 3 (gas3) and is expressed broadly in the body, it was tested whether skin cells from neuropathic patients would display the cellular pathology observed in Schwann cells from rodent models. Dermal fibroblasts from two CMT1A pedigrees with confirmed PMP22 gene duplication were studied. Samples from age-matched non-neuropathic individuals were used as controls. CMT1A patient-derived cultures contain approximately 1.5-fold elevated levels of PMP22 mRNA, exhibit reduced mitotic potential, and display intracellular protein aggregates as compared to cells from unaffected individuals. The presence of cytosolic PMP22 coincides with a decrease in proteasome activity and an increase in autophagy-lysosomal proteins, including LC3-II and LAMP1. These results indicate that the abnormalities in the subcellular processing of excess PMP22 elicit a detectable response in human CMT1A fibroblasts, a phenotype that resembles Schwann cells from neuropathic mice. These findings support the use of human CMT1A fibroblasts as a platform for therapy testing.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review

  5 / 17477 MEDLINE  
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[PMID]: 29523099
[Au] Autor:Cadieux-Dion M; Safina NP; Engleman K; Saunders C; Repnikova E; Raje N; Canty K; Farrow E; Miller N; Zellmer L; Thiffault I
[Ad] Address:Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA. mcadieuxdion@cmh.edu.
[Ti] Title:Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
[So] Source:BMC Med Genet;19(1):41, 2018 Mar 09.
[Is] ISSN:1471-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant disease characterized by the presence of skin erosions affecting the palms, soles and scalp. Other clinical manifestations include ankyloblepharon filiforme adnatum, cleft lip, cleft palate, craniofacial abnormalities and ectodermal defects such as sparse wiry hair, nail changes, dental changes, and subjective hypohydrosis. CASE PRESENTATION: We describe a patient presenting clinical features reminiscent of AEC syndrome in addition to recurrent infections suggestive of immune deficiency. Genetic testing for TP63, IRF6 and RIPK4 was negative. Microarray analysis revealed a 2 MB deletion on chromosome 1 (1q21.1q21.2). Clinical exome sequencing uncovered compound heterozygous variants in CHUK; a maternally-inherited frameshift variant (c.1365del, p.Arg457Aspfs*6) and a de novo missense variant (c.1388C > A, p.Thr463Lys) on the paternal allele. CONCLUSIONS: To our knowledge, this is the fourth family reported with CHUK-deficiency and the second patient with immune abnormalities. This is the first case of CHUK-deficiency with compound heterozygous pathogenic variants, including one variant that arose de novo. In comparison to cases found in the literature, this patient demonstrates a less severe phenotype than previously described.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Data-Review
[do] DOI:10.1186/s12881-018-0556-2

  6 / 17477 MEDLINE  
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[PMID]: 29421277
[Au] Autor:Baurecht H; Rühlemann MC; Rodríguez E; Thielking F; Harder I; Erkens AS; Stölzl D; Ellinghaus E; Hotze M; Lieb W; Wang S; Heinsen-Groth FA; Franke A; Weidinger S
[Ad] Address:Department of Dermatology and Allergy, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
[Ti] Title:Epidermal lipid composition, barrier integrity, and eczematous inflammation are associated with skin microbiome configuration.
[So] Source:J Allergy Clin Immunol;, 2018 Feb 05.
[Is] ISSN:1097-6825
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Genomic approaches have revealed characteristic site specificities of skin bacterial community structures. In addition, in children with atopic dermatitis (AD), characteristic shifts were described at creases and, in particular, during flares, which have been postulated to mirror disturbed skin barrier function, cutaneous inflammation, or both. OBJECTIVE: We sought to comprehensively analyze microbial configurations in patients with AD across body sites and to explore the effect of distinct abnormalities of epidermal barrier function. METHODS: The skin microbiome was determined by using bacterial 16S rRNA sequencing at 4 nonlesional body sites, as well as acute and chronic lesions of 10 patients with AD and 10 healthy control subjects matched for age, sex, and filaggrin (FLG) mutation status. Nonlesional sampling sites were characterized for skin physiology parameters, including chromatography-based lipid profiling. RESULTS: Epidermal lipid composition, in particular levels of long-chain unsaturated free fatty acids, strongly correlated with bacterial composition, in particular Propionibacteria and Corynebacteria abundance. AD displayed a distinct community structure, with increased abundance and altered composition of staphylococcal species across body sites, the strongest loss of diversity and increase in Staphylococcus aureus seen on chronic lesions, and a progressive shift from nonlesional skin to acute and chronic lesions. FLG-deficient skin showed a distinct microbiome composition resembling in part the AD-related pattern. CONCLUSION: Epidermal barrier integrity and function affect the skin microbiome composition. AD shows an altered microbial configuration across diverse body sites, which is most pronounced at sites of predilection and AD. Eczematous affection appears to be a more important determinant than body site.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  7 / 17477 MEDLINE  
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[PMID]: 29301867
[Au] Autor:Schepis A; Barker A; Srinivasan Y; Balouch E; Zheng Y; Lam I; Clay H; Hsiao CD; Coughlin SR
[Ad] Address:Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA.
[Ti] Title:Protease signaling regulates apical cell extrusion, cell contacts, and proliferation in epithelia.
[So] Source:J Cell Biol;217(3):1097-1112, 2018 Mar 05.
[Is] ISSN:1540-8140
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mechanisms that sense and regulate epithelial morphogenesis, integrity, and homeostasis are incompletely understood. Protease-activated receptor 2 (Par2), the Par2-activating membrane-tethered protease matriptase, and its inhibitor, hepatocyte activator inhibitor 1 (Hai1), are coexpressed in most epithelia and may make up a local signaling system that regulates epithelial behavior. We explored the role of Par2b in matriptase-dependent skin abnormalities in Hai1a-deficient zebrafish embryos. We show an unexpected role for Par2b in regulation of epithelial apical cell extrusion, roles in regulating proliferation that were opposite in distinct but adjacent epithelial monolayers, and roles in regulating cell-cell junctions, mobility, survival, and expression of genes involved in tissue remodeling and inflammation. The epidermal growth factor receptor Erbb2 and matrix metalloproteinases, the latter induced by Par2b, may contribute to some matriptase- and Par2b-dependent phenotypes and be permissive for others. Our results suggest that local protease-activated receptor signaling can coordinate cell behaviors known to contribute to epithelial morphogenesis and homeostasis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Data-Review
[do] DOI:10.1083/jcb.201709118

  8 / 17477 MEDLINE  
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[PMID]: 29518291
[Au] Autor:Cocks M; Sander I; Crain B
[Ad] Address:Department of Pathology, Johns Hopkins Hospital Pathology Building, Rm 401, 600 N. Wolfe Street, Baltimore, MD, 21287.
[Ti] Title:Frequency of Dermatologic Findings at Autopsy.
[So] Source:J Forensic Sci;, 2018 Mar 08.
[Is] ISSN:1556-4029
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:A complete academic autopsy includes an external examination with inspection of gross dermatologic findings. At our institution, the postmortem examination also includes a standard skin biopsy. We determined the microscopic yield of this standard postmortem skin biopsy and the overall frequency of macroscopic dermatologic diagnoses. We reviewed 389 complete autopsies conducted between 2012 and 2014. Both microscopic and macroscopic dermatologic diagnoses were analyzed. A macroscopic dermatologic diagnosis was made in 32% of cases while a microscopic diagnosis was recorded in 10% of cases. Dermatologic diagnoses were identified as leading directly to cause of death in 4% of patients and as contributing to death in another 20%. Targeted biopsies were more likely to reveal histologic abnormalities than routine biopsies from a standard anatomic site. Better training in skin gross examination in addition to systematic sampling of both skin lesions and grossly normal skin may improve diagnostic accuracy and enhance clinical pathologic correlations.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1111/1556-4029.13772

  9 / 17477 MEDLINE  
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[PMID]: 29518279
[Au] Autor:Valero-Rubio D; Jiménez KM; Fonseca DJ; Payán-Gomez C; Laissue P
[Ad] Address:Center For Research in Genetics and Genomics-CIGGUR. GENIUROS Research Group. School of Medicine and Health Sciences, Universidad del Rosario. Bogotá, Colombia.
[Ti] Title:Transcriptomic analysis of FUCA1 knockdown in keratinocytes reveals new insights in the pathogenesis of fucosidosis skin lesions.
[So] Source:Exp Dermatol;, 2018 Mar 08.
[Is] ISSN:1600-0625
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:Fucosidosis is a rare lysosomal storage disease which has been classified into two subtypes, depending on the severity of clinical signs and symptoms. Fucosidosis patients' skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, thick skin, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands. It has been described that >50% of fucosidosis patients have angiokeratoma. At molecular level, fucosidosis is caused by lysosomal alpha-L-fucosidase (FUCA1) gene mutations. Obtaining samples for functional studies has been challenging due to the inherent difficulty in finding affected individuals. The effect of FUCA1 dysfunction on gene expression is unknown. The aim of the present study was to analyse, in keratinocytes, the transcriptomic effect of FUCA1 knock-down for a better understanding of skin lesions' pathogenesis affecting fucosidosis patients. FUCA1 knock-down (siRNA) was performed in human HaCaT immortalised keratinocytes. Affymetrix arrays and qPCR were used for analysing gene expression. Bioinformatics was used for functional clustering of modified genes. 387 genes showed differential expression between FUCA1 silenced and non-silenced cells (222 up-regulated and 165 down-regulated). Upregulated genes belonged to two major groups: keratinocyte differentiation/epidermal development (n=17) and immune response (n= 61). Several transcription factors were upregulated in FUCA1-siRNA transfected cells. This effect might partly have been produced by abnormal transcription factor expression, i.e. FOXN1. We thus propose that fucosidosis-related skin lesions (e.g. angiokeratoma) and those of other diseases (e.g. psoriasis) might be caused by dysfunctions in common aetiological overlapping molecular cascades. This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1111/exd.13532

  10 / 17477 MEDLINE  
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[PMID]: 29476778
[Au] Autor:Solis E; Afzal A; Kiyatkin EA
[Ad] Address:Behavioral Neuroscience Branch, National Institute on Drug Abuse - Intramural Research Program, National Institutes of Health, DHHS, 333 Cassell Drive, Baltimore, MD 21224, USA.
[Ti] Title:Changes in brain oxygen and glucose induced by oxycodone: Relationships with brain temperature and peripheral vascular tone.
[So] Source:Neuropharmacology;133:481-490, 2018 Feb 21.
[Is] ISSN:1873-7064
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Oxycodone is a semi-synthetic opioid drug that is used to alleviate acute and chronic pain. However, oxycodone is often abused and, when taken at high doses, can induce powerful CNS depression that manifests in respiratory abnormalities, hypotension, coma, and death. Here, we employed several techniques to examine the effects of intravenous oxycodone at a wide range of doses on various metabolism-related parameters in awake, freely-moving rats. High-speed amperometry was used to assess how oxycodone affects oxygen and glucose levels in the nucleus accumbens (NAc). These measurements were supplemented by recordings of locomotor activity and temperature in the NAc, temporal muscle, and skin. At low doses, which are known to maintain self-administration behavior (0.15-0.3 mg/kg), oxycodone transiently decreased locomotor activity, induced modest brain and body hyperthermia, and monotonically increased NAc oxygen and glucose levels. While locomotor inhibition became stronger with higher oxycodone doses (0.6-1.2 mg/kg), NAc oxygen and glucose transiently decreased and subsequently increased. High-dose oxycodone induced similar biphasic down-up changes in brain and body temperature, with the initial decreases followed by increases. While cerebral vasodilation induced by neural activation appears to be the underlying mechanism for the correlative increases in brain oxygen and glucose levels, respiratory depression and the subsequent drop in blood oxygen likely mediate the brain hypoxia induced by large-dose oxycodone injections. The initial inhibitory effects induced by large-dose oxycodone injections could be attributed to rapid and profound CNS depression-the most dangerous health complication linked to opioid overdose in humans.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher


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