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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

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[PMID]: 29518849
[Au] Autor:Li S; Huang H; Xu K; Xu ZJ
[Ad] Address:Department of Respiratory Medicine, Peking Union Medical College Hospital, Beijing 100730, China.
[Ti] Title:[Respiratory manifestations of yellow nail syndrome: report of two cases and literature review].
[So] Source:Zhonghua Jie He He Hu Xi Za Zhi;41(3):201-206, 2018 Mar 12.
[Is] ISSN:1001-0939
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:To describe the clinical characteristics of respiratory manifestations of yellow nail syndrome. We conducted a retrospective analysis of 2 patients with respiratory diseases associated with yellow nail syndrome. Their clinical and chest radiological data were collected. We searched PubMed, Wanfang and CNKI databases with the keywords "yellow nail syndrome, yellow nail and lung" in Chinese and English. And the relevant literatures, including 6 articles in Chinese and 81 articles in English, were reviewed. Our 2 patients were male, one 60 years old and the other 76. Typical yellow nails were present in their fingers, and one of them also showed toe yellow nails. One patient was admitted for refractory respiratory infection and he was diagnosed with diffuse bronchiectasis. The respiratory symptoms could be relieved with antibiotics according to the results of sputum microbiological analysis. The other patient was admitted for cough and exertional dyspnea, and refractory pleural effusions were revealed bilaterally. He received repeated effusion drainage by thoracentesis, and Octreotide was tried recently. A total of 373 cases were reviewed in Chinese and English literatures. Pleural effusions (152 cases) and diffuse bronchiectasis (121 cases) were the most common reported respiratory manifestations. Lymphoedema was present in almost all cases with pleural effusion associated with yellow nail syndrome, and the effusion was usually exudative and lymphocyte predominant. Pleurodesis and decortication were effective for them. But, somatostatin analogues had been tried effectively for these patients recently. On the other hand, literatures showed that diffuse bronchiectasis in yellow nail syndrome was less severe than idiopathic diffuse bronchiectasis, and might benefit from long-term macrolide antibiotics. Yellow nail syndrome is a very rare disorder. Besides yellow nail, respiratory manifestations are the main clinical presentations. Diffuse bronchiectasis and recurrent pleural effusions are the common manifestations.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Process
[do] DOI:10.3760/cma.j.issn.1001-0939.2018.03.011

  3 / 8342 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

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[PMID]: 29356051
[Au] Autor:Deegan AJ; Talebi-Liasi F; Song S; Li Y; Xu J; Men S; Shinohara MM; Flowers ME; Lee SJ; Wang RK
[Ad] Address:Department of Bioengineering, University of Washington, 3720 15th Ave. N.E., Seattle, Washington, 98195.
[Ti] Title:Optical coherence tomography angiography of normal skin and inflammatory dermatologic conditions.
[So] Source:Lasers Surg Med;, 2018 Jan 22.
[Is] ISSN:1096-9101
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: In clinical dermatology, the identification of subsurface vascular and structural features known to be associated with numerous cutaneous pathologies remains challenging without the use of invasive diagnostic tools. OBJECTIVE: To present an advanced optical coherence tomography angiography (OCTA) method to directly visualize capillary-level vascular and structural features within skin in vivo. METHODS: An advanced OCTA system with a 1310 nm wavelength was used to image the microvascular and structural features of various skin conditions. Subjects were enrolled and OCTA imaging was performed with a field of view of approximately 10 × 10 mm. Skin blood flow was identified using an optical microangiography (OMAG) algorithm. Depth-resolved microvascular networks and structural features were derived from segmented volume scans, representing tissue slabs of 0-132, 132-330, and 330-924 µm, measured from the surface of the skin. RESULTS: Subjects with both healthy and pathological conditions, such as benign skin lesions, psoriasis, chronic graft-versus-host-disease (cGvHD), and scleroderma, were OCTA scanned. Our OCTA results detailed variations in vascularization and local anatomical characteristics, for example, depth-dependent vascular, and structural alterations in psoriatic skin, alongside their resolve over time; vascular density changes and distribution irregularities, together with corresponding structural depositions in the skin of cGvHD patients; and vascular abnormalities in the nail folds of a patient with scleroderma. CONCLUSION: OCTA can image capillary blood flow and structural features within skin in vivo, which has the potential to provide new insights into the pathophysiology, as well as dynamic changes of skin diseases, valuable for diagnoses, and non-invasive monitoring of disease progression and treatment. Lasers Surg. Med. © 2018 Wiley Periodicals, Inc.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher
[do] DOI:10.1002/lsm.22788

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[PMID]: 29192001
[Au] Autor:Qian G; Zhou CC
[Ad] Address:Department of Dermatology, Affiliated Children's Hospital of Zhengzhou University, Zhengzhou, China.
[Ti] Title:A child with nail changes.
[So] Source:BMJ;359:j5192, 2017 11 30.
[Is] ISSN:1756-1833
[Cp] Country of publication:England
[La] Language:eng
[Mh] MeSH terms primary: Hand, Foot and Mouth Disease/complications
Nail Diseases/etiology
Nails, Malformed/etiology
[Mh] MeSH terms secundary: Child, Preschool
Enterovirus/isolation & purification
Hand, Foot and Mouth Disease/virology
Humans
Incidental Findings
Male
Nail Diseases/pathology
Nails, Malformed/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:171202
[St] Status:MEDLINE
[do] DOI:10.1136/bmj.j5192

  6 / 8342 MEDLINE  
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[PMID]: 29453865
[Au] Autor:Lipner SR
[Ad] Address:Department of Dermatology, Weill Cornell Medicine, New York, New York.
[Ti] Title:Ulcerated Nodule of the Fingernail.
[So] Source:JAMA;319(7):713-714, 2018 Feb 20.
[Is] ISSN:1538-3598
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Melanoma/pathology
Nail Diseases/pathology
Nails/pathology
Skin Neoplasms/pathology
Ulcer/pathology
[Mh] MeSH terms secundary: Adult
Biopsy
Humans
Immunohistochemistry
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180218
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2018.0179

  7 / 8342 MEDLINE  
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[PMID]: 29432174
[Au] Autor:Zhao Y; Tyshkovskiy A; Muñoz-Espín D; Tian X; Serrano M; de Magalhaes JP; Nevo E; Gladyshev VN; Seluanov A; Gorbunova V
[Ad] Address:Department of Biology, University of Rochester, Rochester, NY 14627.
[Ti] Title:Naked mole rats can undergo developmental, oncogene-induced and DNA damage-induced cellular senescence.
[So] Source:Proc Natl Acad Sci U S A;115(8):1801-1806, 2018 Feb 20.
[Is] ISSN:1091-6490
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Cellular senescence is an important anticancer mechanism that restricts proliferation of damaged or premalignant cells. Cellular senescence also plays an important role in tissue remodeling during development. However, there is a trade-off associated with cellular senescence as senescent cells contribute to aging pathologies. The naked mole rat (NMR) ( ) is the longest-lived rodent that is resistant to a variety of age-related diseases. Remarkably, NMRs do not show aging phenotypes until very late stages of their lives. Here, we tested whether NMR cells undergo cellular senescence. We report that the NMR displays developmentally programmed cellular senescence in multiple tissues, including nail bed, skin dermis, hair follicle, and nasopharyngeal cavity. NMR cells also underwent cellular senescence when transfected with oncogenic Ras. In addition, cellular senescence was detected in NMR embryonic and skin fibroblasts subjected to γ-irradiation (IR). However, NMR cells required a higher dose of IR for induction of cellular senescence, and NMR fibroblasts were resistant to IR-induced apoptosis. Gene expression analyses of senescence-related changes demonstrated that, similar to mice, NMR cells up-regulated senescence-associated secretory phenotype genes but displayed more profound down-regulation of DNA metabolism, transcription, and translation than mouse cells. We conclude that the NMR displays the same types of cellular senescence found in a short-lived rodent.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:In-Data-Review
[do] DOI:10.1073/pnas.1721160115

  8 / 8342 MEDLINE  
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[PMID]: 29480734
[Au] Autor:Eghtesad S; Mohammadi Z; Shayanrad A; Faramarzi E; Joukar F; Hamzeh B; Farjam M; Zare Sakhvidi MJ; Miri-Monjar M; Moosazadeh M; Hakimi H; Rahimi Kazerooni S; Cheraghian B; Ahmadi A; Nejatizadeh A; Mohebbi I; Pourfarzi F; Roozafzai F; Motamed-Gorji N; Montazeri SA; Masoudi S; Amin-Esmaeili M; Danaie N; Mirhafez SR; Hashemi H; Poustchi H; Malekzadeh R
[Ad] Address:Digestive Disease Research Center, Digestive Diseases Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
[Ti] Title:The PERSIAN Cohort: Providing the Evidence Needed for Healthcare Reform.
[So] Source:Arch Iran Med;20(11):691-695, 2017 Nov 01.
[Is] ISSN:1735-3947
[Cp] Country of publication:Iran
[La] Language:eng
[Ab] Abstract:In the past, communicable diseases caused the highest mortality in Iran. Improvements in socioeconomic status and living standards including access to safe drinking water, along with the inception of Health Houses in the 1980s, have changed disease patterns, decreasing the spread of and deaths from infectious and communicable diseases. The incidence and prevalence of non-communicable diseases (NCD), however, have now increased in Iran, accounting for nearly 80% of deaths and disabilities. Without interventions, NCD are predicted to impose a substantial human and economic burden in the next 2 decades. However, Iran's health system is not equipped with the necessary policies to combat this growth and must refocus and reform. Therefore, in the year 2013, the Ministry of Health and Medical Education funded a well-designed nationwide cohort study-Prospective Epidemiological Research Studies in IrAN (PERSIAN)-in order to assess the burden of NCD and investigate the risk factors associated with them in the different ethnicities and geographical areas of Iran. The PERSIAN Cohort, which aims to include 200000 participants, has 4 components: Adult (main), Birth, Youth and Elderly, which are being carried out in 22 different regions of Iran. Having an enormous dataset along with a biobank of blood, urine, hair and nail samples, the PERSIAN Cohort will serve as an important infrastructure for future implementation research and will provide the evidence needed for new healthcare policies in order to better control, manage and prevent NCD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Data-Review

  9 / 8342 MEDLINE  
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[PMID]: 29437061
[Au] Autor:Chraim M; Krenn S; Alrabai HM; Trnka HJ; Bock P
[Ad] Address:Orthopaedic Hospital Speising, Speisingerstrasse 109, A-1130, Vienna, Austria.
[Ti] Title:Mid-term follow-up of patients with hindfoot arthrodesis with retrograde compression intramedullary nail in Charcot neuroarthropathy of the hindfoot.
[So] Source:Bone Joint J;100-B(2):190-196, 2018 Feb.
[Is] ISSN:2049-4408
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:AIMS: Hindfoot arthrodesis with retrograde intramedullary nailing has been described as a surgical strategy to reconstruct deformities of the ankle and hindfoot in patients with Charcot arthropathy. This study presents case series of Charcot arthropathy patients treated with two different retrograde intramedullary straight compression nails in order to reconstruct the hindfoot and assess the results over a mid-term follow-up. PATIENTS AND METHODS: We performed a retrospective analysis of 18 consecutive patients and 19 operated feet with Charcot arthropathy who underwent a hindfoot arthrodesis using a retrograde intramedullary compression nail. Patients were ten men and eight women with a mean age of 63.43 years (38.5 to 79.8). We report the rate of limb salvage, complications requiring additional surgery, and fusion rate in both groups. The mean duration of follow-up was 46.36 months (37 to 70). RESULTS: The limb salvage rate was 16 of 19 limbs. Three patients had to undergo below-knee amputation due to persistent infection followed by osteomyelitis resistant to parenteral antibiotic therapy and repeated debridement. Complications including infection, hardware removal, nonunion, and persistent ulcers requiring further intervention were also observed. Postoperative functional scores revealed significant improvement compared with preoperative scores on American Orthopaedic Foot and Ankle Society (AOFAS) - Hindfoot scale, Foot Function Index (FFI), visual analogue scale (VAS), and Foot and Ankle Outcome Score (FAOS). CONCLUSION: The use of retrograde intramedullary compression nail results in good rates of limb salvage when used for hindfoot reconstruction in patients with Charcot arthropathy. Cite this article: 2018;100-B:190-6.
[Mh] MeSH terms primary: Arthrodesis/methods
Arthropathy, Neurogenic/surgery
Foot Diseases/surgery
Fracture Fixation, Intramedullary
[Mh] MeSH terms secundary: Adult
Aged
Amputation
Debridement
Female
Follow-Up Studies
Humans
Limb Salvage
Male
Middle Aged
Postoperative Complications
Retrospective Studies
Treatment Outcome
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180216
[Lr] Last revision date:180216
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180214
[St] Status:MEDLINE
[do] DOI:10.1302/0301-620X.100B2.BJJ-2017-0374.R2

  10 / 8342 MEDLINE  
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[PMID]: 29391040
[Au] Autor:Ameya G; Tsalla T; Getu F; Getu E
[Ad] Address:Department of Medical Laboratory Science, College of Medicine and Health Sciences, Arba Minch University, P.O. Box: 21, Arba Minch, Ethiopia. gemechuameya@gmail.com.
[Ti] Title:Antimicrobial susceptibility pattern, and associated factors of Salmonella and Shigella infections among under five children in Arba Minch, South Ethiopia.
[So] Source:Ann Clin Microbiol Antimicrob;17(1):1, 2018 Feb 01.
[Is] ISSN:1476-0711
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Diarrheal diseases continue to be the major cause of morbidity and mortality among children under 5 years. Salmonella and Shigella specious are the major enteric pathogen causing diarrhea among children worldwide. Examination of stool sample is the most sensitive method to diagnose diarrheal disease in children. This study aimed to determining the prevalence, antimicrobial susceptibility pattern and associated factor of Salmonella and Shigella infection among under five children. METHODS: A cross sectional study was conducted on under 5 years children attending Arba Minch town. Pre-tested and structured questionnaire was used for collecting data about socio-demographic characteristics and associated factors. Stool sample was used to isolate and identified the pathogen. Antimicrobial susceptibility test was performed for isolated Salmonella and Shigella specious. A logistic regression analysis was used to see the association between different variables and outcome variable. Odds ratio with 95% CI was computed to determine the presence and strength of the association. RESULTS: A total of 167 under five children were included in the study. About 57% of participants were males with the mean age of 32 months. The overall prevalence of Salmonella and Shigella species infection was 17.45% with 12.6% Salmonella species. The isolates were resistant to common antibiotics such as Amoxicillin, Erythromycin, Chloramphenicol, Clindamycin, Norfloxacin, Ciprofloxacin, Cotrimoxazole, and Gentamycin. Urban resident [AOR = 7.11; 95% CI (2.3, 22.2)], month income < 1000 Ethiopian birr [AOR = 6.5; 95% CI (2.0, 21.4)], absence of waste disposal system [AOR = 3.3; 95% CI (1.2, 9.3)], poor hand washing habit [AOR = 6.0; 95% CI (2.0, 18.2)], untrimmed finger nail [AOR = 3.7; 95% CI (1.4, 10.6)], and use of napkin [AOR = 3.2; 95% CI (1.1, 9.3)] had significant association with Salmonella and Shigella infection. CONCLUSION: Salmonella and Shigella species infections were higher as compared the national prevalence. This study also revealed that the enteric infection were significantly associated with finger nail status, residence, hand washing practice, month income of parents, usage of napkin after toilet, and absence of waste disposal system. Therefore, working on identified associated factors and regular drug susceptibility test is mandatory to reduce the problem.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180214
[Lr] Last revision date:180214
[St] Status:In-Process
[do] DOI:10.1186/s12941-018-0253-1


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