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Hair disorders

Ping-Tao Tseng, Yu-Shian Cheng, Yen-Wen Chen, Brendon Stubbs, Paul Whiteley, Andre F Carvalho, Dian-Jeng Li, Tien-Yu Chen, Wei-Cheng Yang, Chia-Hung Tang, Che-Sheng Chu, Wei-Chieh Yang, Hsin-Yi Liang, Ching-Kuan Wu, Cheng-Fang Yen, Pao-Yen Lin
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder, and nutritional deficiency may play a role in the development of ASD. A relationship between ASD and iron levels/iron deficiency (ID) has been reported; however, the results have been inconsistent. Therefore, we conducted this meta-analysis to examine the relationship between ASD and ID following the Meta-Analysis of Observational Studies in Epidemiology guidelines. We performed a systematic search of PubMed, ScienceDirect, Embase, ProQuest, ClinicalTrials...
February 2018: Nutrition Research
Miyuru Chandradasa, Shehan Williams
The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-Giedion syndrome and high-functioning autism. The karyotype found a microdeletion of the long arm of chromosome 8 with mosaicism [46,XY/46,XY,del(8)(q24.1q24.3)]. This is probably the first report of Langer-Giedion Syndrome with autism and the first report of the genetic syndrome from Sri Lanka...
March 13, 2018: Psychiatric Genetics
Arti Nanda, Maitham A A Husain, Waleed Al-Herz, Adla Almekaimi, Humoud Al-Sabah, Mohammad Al-Otaibi
BACKGROUND/OBJECTIVES: Allogeneic hematopoietic stem cell transplantation (HSCT) is a treatment option for many life-threatening disorders in children. Chronic graft-versus-host disease (cGVHD) is a significant complication of HSCT, and its treatment is challenging. Skin is the most common organ affected in cGVHD, with protean manifestations posing a challenge in diagnosis and management. The objective was to have a better understanding of the spectrum of chronic cutaneous GVHD (cc-GVHD) in children...
March 14, 2018: Pediatric Dermatology
Lena Van den Eeden, Nathalie Lambrechts, Veerle Verheyen, Mario Berth, Greet Schoeters, Yves Jacquemyn
INTRODUCTION: Air pollution is a hot topic and is known to cause multiple health issues. Especially pregnant women seem to be vulnerable to environmental issues. There are data suggesting that exposure contributes to hypertensive disorders.This study aims to evaluate the effects of exposure to particulate matter (PM) and outdoor air pollutants on the clinical pregnancy outcome for mother and child and to determine which biochemical changes in maternal, placental and cord blood best explain this effect...
March 9, 2018: BMJ Open
C Berthin, P Sibilia, J Martins-Hericher, A Donzeau, L Martin
BACKGROUND: Non-classical congenital adrenal hyperplasia (NC-CAH) is a recessive autosomal disease caused by a deficiency of adrenal steroidogenesis enzymes. It must be distinguished from classical CAH, either simple virilising or salt-wasting, diagnosed during the neonatal period and responsible for potentially lethal disorders of sexual differentiation. NC-CAH presents a simpler and less specific clinical picture. Herein, we present two cases comprising twin girls consulting for diffuse hypertrichosis...
March 7, 2018: Annales de Dermatologie et de Vénéréologie
Kathryn A Martin, R Rox Anderson, R Jeffrey Chang, David A Ehrmann, Rogerio A Lobo, M Hassan Murad, Michel M Pugeat, Robert L Rosenfield
Objective: To update the "Evaluation and Treatment of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline," published by the Endocrine Society in 2008. Participants: The participants include an Endocrine Society-appointed task force of seven medical experts and a methodologist. Evidence: This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation system to describe the strength of recommendations and the quality of evidence...
March 7, 2018: Journal of Clinical Endocrinology and Metabolism
Masanori Isobe, Sarah A Redden, Nancy J Keuthen, Dan J Stein, Christine Lochner, Jon E Grant, Samuel R Chamberlain
Trichotillomania (hair-pulling disorder) is characterized by the repetitive pulling out of one's own hair, and is classified as an Obsessive-Compulsive Related Disorder. Abnormalities of the ventral and dorsal striatum have been implicated in disease models of trichotillomania, based on translational research, but direct evidence is lacking. The aim of this study was to elucidate subcortical morphometric abnormalities, including localized curvature changes, in trichotillomania. De-identified MRI scans were pooled by contacting authors of previous peer-reviewed studies that examined brain structure in adult patients with trichotillomania, following an extensive literature search...
2018: NeuroImage: Clinical
Shan Ding, Shibao Xie, Weiquan Chen, Lu Wen, Junyi Wang, Fan Yang, Gang Chen
Drug delivery to the inner ear by nanomedicine strategies has emerged as an effective therapeutic approach for the management of inner ear diseases including hearing and balance disorders. It is well accepted that substance enters the perilymph from the middle ear through the round window membrane (RWM), but the passage through the oval window (OW) has long been neglected. Up to now, researchers still know little about the pathway via which nanoparticles (NPs) enter the inner ear or how they reach the inner ear following local applications...
February 27, 2018: European Journal of Pharmaceutical Sciences
Margarita G Skalnaya, Anatoly V Skalny, Andrey R Grabeklis, Eugeny P Serebryansky, Vasily A Demidov, Alexey A Tinkov
The objective of the present study was to investigate the level of toxic and essential trace elements in hair of adult overweight and obese persons as well as its association with metabolic parameters. Hair trace element levels were assessed using inductively coupled plasma mass-spectrometry in 112 overweight and obese patients and 106 lean controls. Serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TG), glucose, uric acid (UA) levels, and cholinesterase (CE) and gamma-glutamyltransferase (GGT) activity were also assessed...
March 1, 2018: Biological Trace Element Research
Sharon E Oberfield, Rachel H Tao, Selma F Witchel
Premature adrenarche (PA) has been assumed to be a benign variant of normal pubertal development. Yet, current collective information suggests associations between PA and potential risks for development of polycystic ovary syndrome and adult diseases such as the metabolic syndrome. Adrenarche refers to the increased secretion of the adrenal androgen precursors DHEA, DHEAS, and androstenedione, which normally occurs in children at age 6-8 years. PA may be identified clinically by early pubarche, which is defined as the development of pubic or axillary hair before 8 years in girls or 9 years in boys...
March 2018: Pediatric Endocrinology Reviews: PER
Iddo Vardi, Ortal Barel, Michal Sperber, Michael Schvimer, Moran Nunberg, Michael Field, Jodie Ouahed, Dina Marek-Yagel, Lael Werner, Yael Haberman, Avishay Lahad, Yair Anikster, Gideon Rechavi, Iris Barshack, Joshua J McElwee, Joseph Maranville, Raz Somech, Scott B Snapper, Batia Weiss, Dror S Shouval
BACKGROUND: Advances in genomics have facilitated the discovery of monogenic disorders in patients with unique gastro-intestinal phenotypes. Syndromic diarrhea, also called tricho-hepato-enteric (THE) syndrome, results from deleterious mutations in SKIV2L or TTC37 genes. The main features of this disorder are intractable diarrhea, abnormal hair, facial dysmorphism, immunodeficiency and liver disease. AIM: To report on a patient with THE syndrome and present the genetic analysis that facilitated diagnosis...
February 26, 2018: Digestive Diseases and Sciences
Uwe Wollina, Birgit Heinig, André Koch, Andreas Nowak, Georgi Tchernev, Katlein França, Torello Lotti
Lichen planus is a T-cell mediated autoimmune disorder affecting the skin and mucous membranes. Ulcerating lichen planus is uncommon mostly on oral and genital mucosa but not skin. Lichen planopilaris, however, is a subtype of lichen planus affection hair follicles and leading to permanent scarring alopecia. We report a case of lichen planopilaris of the scalp with multiple alopecic patches ulceration - a hitherto unreported clinical feature. The patient was treated surgically, and the defect could be closed by combined tissue advancement and extension...
January 25, 2018: Open Access Macedonian Journal of Medical Sciences
Uwe Wollina, Dana Langner, Georgi Tchernev, Katlein França, Torello Lotti
Epidermoid cysts are common benign lesions of hair-bearing, and less often glabrous skin. They can also occur in oral mucosa and internal organs. In case of cutaneous lesions, an epidermal punctum is a clinical diagnostic hallmark. The clinical presentation is variable leading to some differential diagnoses. Diagnosis of epidermoid cysts needs histopathological confirmation - not only of the potential of malignant transformation. The treatment of choice is surgery. We report a retrospective analysis of 2159 epidermoid cysts treated surgically...
January 25, 2018: Open Access Macedonian Journal of Medical Sciences
Kyoko Nagao, Thierry Morlet, Elizabeth Haley, Jennifer Padilla, Julianne Nemith, Robert W Mason, Shunji Tomatsu
BACKGROUND: Hearing impairment is a common problem in patients with mucopolysaccharidosis IV (MPS IV) throughout their life. Many of the adult patients with MPS IV exhibit permanent or severe hearing loss. However, there has been no systematic review of detailed audiological test results in MPS IV. MATERIALS AND METHODS: Fourteen individuals with MPS IV (13 MPS IVA and 1 MPS IVB; aged between 12 and 38 years old) participated in the current study. We obtained auditory neurophysiological responses (auditory brainstem responses and otoacoustic emissions test) in addition to pure-tone audiometry and middle ear function tests (tympanometry and acoustic reflexes)...
February 8, 2018: Molecular Genetics and Metabolism
Matilde Iorizzo, Antonella Tosti
Alopecia Areata is a common form of non-scarring hair loss that usually starts abruptly with a very high psychological impact. Due to the still not completely understood etiopathogenesis, at present there is no treatment that can induce a permanent remission and there is no drug approved for the treatment of this disorder. Areas covered: Leading existing treatment are briefly overviewed and then ongoing research on Janus Kinases Inhibitors is discussed, reviewing trials with oral and topical formulations so as new opportunities for other forms of alopecia, such as cicatricial alopecia...
February 21, 2018: Expert Opinion on Emerging Drugs
Sylke Schneider-Burrus, Agata Jost, Eva Milena Johanna Peters, Ellen Witte-Haendel, Wolfram Sterry, Robert Sabat
Importance: Hidradenitis suppurativa (HS) leads to disfigurement and painful eruptions in terminal hair follicles of the intertriginous skin, mainly of axillary, genitofemoral, and perianal sites. It is associated with an excessive impairment of quality of life, psychiatric disorders, and sexual distress. Body image impairment has been linked to depression and anxiety and has been described for some dermatologic disorders but has not yet been investigated in patients with HS. Objectives: To investigate whether body image is diminished in patients with HS and whether disease severity, age at onset, disease duration, obesity, depression, and anxiety are linked to body image impairment...
February 21, 2018: JAMA Dermatology
Yukari Mizukami, Ryota Hayashi, Daisuke Tsuruta, Yutaka Shimomura, Koji Sugawara
Autosomal recessive woolly hair is a relatively rare hereditary hair disorder characterized by sparse, short, curly hair. This condition is known to be caused by mutations in the LIPH gene, LPAR6 gene or KRT25 gene. In the Japanese population, most patients with autosomal recessive woolly hair carry one of two founder mutations in the LIPH gene, c.736T>A (p.Cys246Ser) or c.742C>A (p.His248Asn). However, occasionally, individuals with this condition carry compound heterozygous mutations, typically one founder mutation and another mutation...
February 20, 2018: Journal of Dermatology
Baoheng Gui, Yanning Song, Xuyun Hu, Hongdou Li, Zailong Qin, Jiasun Su, Chuan Li, Xin Fan, Mengting Li, Jingsi Luo, Ying Feng, Liping Song, Shaoke Chen, Chunxiu Gong, Yiping Shen
BACKGROUND: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder mainly characterized by cutaneous poikiloderma, sparse hair, short stature and skeletal defects. Deleterious mutations in the RecQ-like DNA helicase type 4 (RECQL4) gene have been detected in approximately two-thirds of RTS cases. METHODS: Three Chinese patients from two unrelated families were enrolled for clinical evaluation. Targeted next-generation sequencing (NGS) using a custom panel consisting of 705 short-stature-related genes was performed for the probands...
February 17, 2018: Gene
Antonella Tosti, Dimitris Rigopoulos
No abstract text is available yet for this article.
January 2018: Skin Appendage Disorders
Jessica Cervantes, Marina Perper, Lulu L Wong, Ariel E Eber, Alexandra C Villasante Fricke, Tongyu Cao Wikramanayake, Joaquin J Jimenez
Androgenetic alopecia (AGA) is a hair loss disorder affecting 80% of men and 50% of women throughout their lifetime. Therapies for AGA are limited and there is no cure. There is a high demand for hair restoration. Platelet-rich plasma (PRP), a treatment modality shown to promote wound healing, has also been explored as a treatment for AGA. This literature review was conducted to assess the effectiveness of PRP treatment for AGA. Twelve studies conducted from 2011 to 2017 were evaluated and summarized by study characteristics, mode of preparation, and treatment protocols...
January 2018: Skin Appendage Disorders
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