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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

  2 / 1073 MEDLINE  
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[PMID]: 29437013
[Au] Autor:Pratico AD; Ruggieri M; Falsaperla R; Pavone P
[Ad] Address:Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, Univesity of Catania, Catania. Italy.
[Ti] Title:A Probable Topiramate-induced Limbs Paraesthesia and Rigid Fingers Flexion
[So] Source:Curr Drug Saf;, 2018 02 12.
[Is] ISSN:2212-3911
[Cp] Country of publication:United Arab Emirates
[La] Language:eng
[Ab] Abstract:Topiramate is a well-known anticonvulsant drug with a broad spectrum of actions. It has been proposed in the treatment of several types of epileptic seizures both in monotherapy and in add-on. Its usage has been extended to other disorders including migraine, essential tremor, obesity, alcohol and drug addiction. The most frequent side-effects of topiramate include dizziness, somnolence, insomnia, and ataxia. Paraesthesia, metabolic acidosis, kidney stones, hypohidrosis, cognitive impairment and eye symptoms have been also reported. We report on a girl affected by epileptic seizures treated with levetiracetam for five years. Due to a worsening of the seizures, the dosage of this drug was increased and afterwards low-dosage topiramate was initiated. After 12 days from the introduction of topiramate, the girl began to present neurologic signs including limbs rigidity, pain, incoordination and flexed fingers. Gradual withdrawn of the topiramate resulted in a progressive resolution of the symptomatology. This clinical episode could represent a topiramate-related side effect, never reported before in this form.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[St] Status:Publisher
[do] DOI:10.2174/1574886313666180213090445

  3 / 1073 MEDLINE  
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[PMID]: 29256109
[Au] Autor:Akahane M; Matsumoto S; Kanagawa Y; Mitoma C; Uchi H; Yoshimura T; Furue M; Imamura T
[Ad] Address:Department of Public Health, Health Management and Policy, Faculty of Medicine, Nara Medical University, Shijo 840, Kashihara, Nara, Japan. makahane@naramed-u.ac.jp.
[Ti] Title:Long-Term Health Effects of PCBs and Related Compounds: A Comparative Analysis of Patients Suffering from Yusho and the General Population.
[So] Source:Arch Environ Contam Toxicol;74(2):203-217, 2018 Feb.
[Is] ISSN:1432-0703
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Yusho, which refers to a mass poisoning caused by the ingestion of rice bran oil contaminated with polychlorinated biphenyls, polychlorinated dibenzo-p-dioxins, and polychlorinated dibenzofurans, was first reported in October 1968 in Japan. Yusho patients suffer from various symptoms; however, after 40 years, some emerging symptoms have been attributed to aging. The prevalence of symptoms and diseases among Yusho patients and the general population was compared in this study. The data obtained from the survey among Yusho patients (1131 patients) by the Ministry of Health, Labour, and Welfare of Japan in 2008 were compared with the data from a survey conducted among the general population. When selecting the comparison group, the age and residential area (prefecture) were taken into account to match the baseline characteristics of Yusho patients. A logistic regression analysis was performed to identify the association between Yusho and the prevalence of symptoms and was adjusted for various potential confounding factors (age, sex, body mass index, cigarette smoking, frequency of drinking, and walking time). Skin pigmentation and acneiform eruption were found to be characteristic symptoms of Yusho and were more prevalent in these patients. Other symptoms and diseases associated with Yusho included orthostatic hypotension, hypohidrosis, dysgeusia, Basedow's disease, hoarseness, cardiac insufficiency, tachycardia, eczema, and hair loss. Symptoms related to aging, such as general fatigue, arthralgia, and numbness in the extremities, were significantly higher in Yusho patients after adjusting for age and lifestyle. This study demonstrated that, 40 years after the outbreak of Yusho, the prevalence of various symptoms and diseases in Yusho patients, including age-related diseases, was higher than that in the general population.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180210
[Lr] Last revision date:180210
[St] Status:In-Process
[do] DOI:10.1007/s00244-017-0486-6

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[PMID]: 29277540
[Au] Autor:Yamaga K; Murota H; Tamura A; Miyata H; Ohmi M; Kikuta J; Ishii M; Tsukita S; Katayama I
[Ad] Address:Department of Dermatology, Course of Integrated Medicine, Graduate School of Medicine, Osaka University, Osaka 5650871, Japan; Laboratory of Biological Science, Graduate School of Frontier Biosciences, Graduate School of Medicine, Osaka University, Osaka 5650871, Japan.
[Ti] Title:Claudin-3 loss causes leakage of sweat from the sweat gland to contribute to the pathogenesis of atopic dermatitis.
[So] Source:J Invest Dermatol;, 2017 Dec 22.
[Is] ISSN:1523-1747
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The transfer of sweat to the skin surface without leakage is important for the homeostatic regulation of skin and is impaired in atopic dermatitis (AD). Although the precise composition of the leakage barrier remains obscure, there is a large contribution from claudins, the major components of tight junctions. In humans, claudin-1, -3, and -15 are expressed on sweat ducts, and claudin-3 and -10 are expressed on secretory coils. Although only two claudins are expressed in murine sweat glands, we found that the expression of claudin-3 is conserved. AD lesional skin had decreased claudin-3 expression in sweat glands, which was accompanied by sweat leakage. This critical role in water barrier function was confirmed in Cldn3 and Cldn3 mice and those with experimentally decreased claudin-3. Our results reveal the crucial role of claudin-3 in preventing sweat gland leakage and suggest that the pathogenesis of dermatoses accompanied by hypohidrosis involves abnormally decreased claudin-3.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171226
[Lr] Last revision date:171226
[St] Status:Publisher

  5 / 1073 MEDLINE  
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[PMID]: 29208051
[Au] Autor:Youssefian L; Touati A; Saeidian AH; Zargari O; Zeinali S; Vahidnezhad H; Uitto J
[Ad] Address:Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.
[Ti] Title:A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
[So] Source:Orphanet J Rare Dis;12(1):176, 2017 Dec 06.
[Is] ISSN:1750-1172
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular atrophoderma. However, the understanding of the specific consequences of mutations in ST14 on the development of this syndrome is incomplete. RESULTS: Using a targeted next-generation sequencing array of 38 ichthyosis-associated genes on a large cohort of 180 ichthyosis patients from a primarily consanguineous background, a previously unreported homozygous p.Asp482Asn mutation in ST14 was identified in a patient with IHS. This mutation affects an essential site within a ligand-binding domain of matriptase. Comparison with previous reports of IHS allowed further delineation of the phenotype of IHS in correlation with mutations present in these patients. Histological and ultrastructural analysis of skin and hair identified novel features in this disorder. CONCLUSIONS: This study correlates genotypic and phenotypic features of the rare disorder, IHS, expands the spectrum of pathology associated with the disorder, and provides clinical evidence of the importance of the Asp482 amino acid, previously shown to have an essential role in matriptase activation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171220
[Lr] Last revision date:171220
[St] Status:In-Process
[do] DOI:10.1186/s13023-017-0728-8

  6 / 1073 MEDLINE  
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[PMID]: 29100912
[Au] Autor:Hsu TR; Niu DM
[Ad] Address:Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Clinical Medicine and Faculty of Medicine, National Yang-Ming University, Taipei, Taiwan.
[Ti] Title:Fabry disease: Review and experience during newborn screening.
[So] Source:Trends Cardiovasc Med;, 2017 Oct 20.
[Is] ISSN:1873-2615
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Fabry disease (FD) is an X-linked lysosomal storage disease and is the result of mutation in the α-Galactosidase A gene; such mutations cause a deficiency in α-Galactosidase A enzyme and an accumulation of glycosphingolipid in tissue. Affected males with classic FD have little or no enzyme activity and have an early onset of symptoms and signs, including acroparesthesias, hypohidrosis, angiokeratomas, gastrointestinal dysfunction and/or a characteristic corneal dystrophy during childhood/adolescence. Males with late-onset FD who have residual enzyme activity develop progressive multi-systemic involvement that leads to renal failure and hypertrophic cardiomyopathy, as well as cerebrovascular disease; these events mostly occur during the fourth to seventh decades of life. Heterozygous females can develop vital organ damage that in turn causes severe morbidity and mortality; these symptoms may be as severe as those in affected males. For the treatable disease, this review aims to raise awareness of early recognition and further management of FD based on newborn screening. As newborn screening for FD has been implemented worldwide, it allows the early detection of individuals with Fabry mutations. Based on screening studies, the prevalence of the later-onset type FD is much higher than that of classical type FD. Newborn screening studies have also revealed that patients with FD may develop insidious but ongoing irreversible organ damage. The timing of enzyme replacement therapy, which is able to stabilize the progression of disease, is important in order to prevent irreversible organ damage. Therapies that may become available in the future include pharmacological chaperones and substrate reduction therapy, both of which are still under investigation as ways of improving the health of individuals with FD.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1711
[Cu] Class update date: 171104
[Lr] Last revision date:171104
[St] Status:Publisher

  7 / 1073 MEDLINE  
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[PMID]: 28977673
[Au] Autor:Fujita-Tanaka H; Ogawa Y; Muro Y; Ogawa-Momohara M; Asashima H; Tsuboi H; Sumida T; Akiyama M
[Ad] Address:Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
[Ti] Title:Pansclerotic morphea associated with hypohidrosis and anti-M3 muscarinic acetylcholine receptor antibodies.
[So] Source:Br J Dermatol;, 2017 Oct 04.
[Is] ISSN:1365-2133
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:A man in his 50s was referred to our hospital due to a 3-month history of extensive hypohidrosis that he first realized in his upper trunk. He subsequently noticed tenseness of the skin on the hypohidrotic areas. He had a medical history of hyperlipidemia, duodenum ulcer and obsessive-compulsive disorder, but had not received drugs known to induce sclerosis or hypohidrosis. Physical examination showed diffuse, shiny, mildly sclerotic skin with a symmetrical distribution in the upper extremities and the trunk; however, the hands, axillae and lateral chest were spared (Figure 1a). This article is protected by copyright. All rights reserved.
[Pt] Publication type:LETTER
[Em] Entry month:1710
[Cu] Class update date: 171004
[Lr] Last revision date:171004
[St] Status:Publisher
[do] DOI:10.1111/bjd.16021

  8 / 1073 MEDLINE  
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[PMID]: 28940663
[Au] Autor:Shimoda-Komatsu Y; Sato Y; Yamazaki Y; Takahashi R; Shiohara T
[Ad] Address:Department of Dermatology, Kyorin University School of Medicine, Mitaka city, Tokyo, Japan.
[Ti] Title:A novel method to assess the potential role of sweating abnormalities in the pathogenesis of atopic dermatitis.
[So] Source:Exp Dermatol;, 2017 Sep 23.
[Is] ISSN:1600-0625
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:Although atopic dry skin is believed to be caused by defects in skin genes important for maintaining skin barrier function, the role of sweat in atopic dermatitis (AD) has been apparently underestimated. Given the great capacity of sweat to maintain and increase skin hydration, defective sweating responses may be a logical place to look for changes that predispose individuals to the disease. We investigated how disease process and sweating defects progress from early asymptomatic stages to the onset of clinically apparent disease by employing the impression mould technique, which allows an accurate quantification of individual sweat gland/duct activity in relation to skin surface topography. Insensible and sensible sweating responses under baseline conditions and after thermal stimulus, respectively, were measured in various stages of AD patients and healthy controls. In controls, under baseline conditions, sweat ducts/glands at the dermal folds secreted basal levels of sweat (insensible sweating), thereby maintaining skin hydration. Not only such insensible sweating but also sensible sweating markedly decreased even in the earliest asymptomatic stage and the decrease was followed by compensatory hyperhidrosis at the ridge: leakage of sweat into the dermis could represent the initial event resulting in the decreased sweating and inflammation. The defects eventually progressed involving all of the ducts/glands to develop systemic dry skin. AD skin is characterized by varying degrees of functional impairment of sweat ducts/glands depending on the stage, and this defect would be among the reasons for the inability of AD patients to maintain skin hydration.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 171123
[Lr] Last revision date:171123
[St] Status:Publisher
[do] DOI:10.1111/exd.13448

  9 / 1073 MEDLINE  
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[PMID]: 28877528
[Au] Autor:Savasta S; Carlone G; Castagnoli R; Chiappe F; Bassanese F; Piras R; Salpietro V; Brazzelli V; Verrotti A; Marseglia GL
[Ad] Address:Department of Pediatrics, Fondazione Policlinico San Matteo IRCCS, University of Pavia, Pavia, Italy.
[Ti] Title:X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation.
[So] Source:Cytogenet Genome Res;152(3):111-116, 2017.
[Is] ISSN:1424-859X
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations.
[Mh] MeSH terms primary: Ectodermal Dysplasia 1, Anhidrotic/genetics
Ectodysplasins/genetics
Mutation, Missense
[Mh] MeSH terms secundary: Amino Acid Substitution
Anodontia/genetics
Anodontia/pathology
Child, Preschool
Codon
DNA Mutational Analysis
Ectodermal Dysplasia 1, Anhidrotic/pathology
Female
Genes, X-Linked
Hemizygote
Heterozygote
Histidine/genetics
Humans
Hypohidrosis/genetics
Hypohidrosis/pathology
Leucine/genetics
Lip/abnormalities
Male
Maxilla/abnormalities
Nasal Bone/abnormalities
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Codon); 0 (EDA protein, human); 0 (Ectodysplasins); 4QD397987E (Histidine); GMW67QNF9C (Leucine)
[Em] Entry month:1710
[Cu] Class update date: 171020
[Lr] Last revision date:171020
[Js] Journal subset:IM
[Da] Date of entry for processing:170907
[St] Status:MEDLINE
[do] DOI:10.1159/000478922

  10 / 1073 MEDLINE  
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[PMID]: 28796884
[Au] Autor:Nishida M; Namiki T; Sone Y; Hashimoto T; Tokoro S; Hanafusa T; Yokozeki H
[Ad] Address:Department of Dermatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.
[Ti] Title:Acquired anhidrosis associated with systemic sarcoidosis: Quantification of nerve fibers around eccrine glands by confocal microscopy.
[So] Source:Br J Dermatol;, 2017 Aug 10.
[Is] ISSN:1365-2133
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Neurological disorders can cause hypohidrosis and/or anhidrosis by disturbing either the central or the peripheral nervous systems. Although a syringotropic variant of cutaneous sarcoidosis causes dysfunction of sweating, systemic sarcoidosis rarely causes hypohidrosis or anhidrosis. Here we present a novel case of an acquired anhidrosis in a patient with systemic sarcoidosis. Furthermore, we developed a novel methodology to quantify nerve fibers around eccrine glands using confocal microscopy and found that nerve fibers around eccrine glands in anhidrotic areas are significantly decreased compared to hidrotic areas. This article is protected by copyright. All rights reserved.
[Pt] Publication type:LETTER
[Em] Entry month:1708
[Cu] Class update date: 170810
[Lr] Last revision date:170810
[St] Status:Publisher
[do] DOI:10.1111/bjd.15880


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