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https://www.readbyqxmd.com/read/27915094/clinical-features-associated-with-ctnnb1-de-novo-loss-of-function-mutations-in-ten-individuals
#1
Mira Kharbanda, Daniela T Pilz, Susan Tomkins, Kate Chandler, Anand Saggar, Alan Fryer, Victoria McKay, Pedro Louro, Jill Clayton Smith, John Burn, Usha Kini, Anna De Burca, David R FitzPatrick, Esther Kinning, D D D Study
Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with haploinsufficiency for this gene. Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified eleven further individuals with de novo loss of function mutations in CTNNB1. Here we report detailed phenotypic information on ten of these...
November 30, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27901519/predictors-of-comorbid-obsessive-compulsive-disorder-and-skin-picking-disorder-in-trichotillomania
#2
Nancy J Keuthen, Erin E Curley, Jeremiah M Scharf, Douglas W Woods, Christine Lochner, Dan J Stein, Esther S Tung, Erica Greenberg, S Evelyn Stewart, Sarah A Redden, Jon E Grant
BACKGROUND: Trichotillomania (TTM), obsessive-compulsive disorder (OCD), and skin-picking disorder (SPD) frequently occur together and share overlapping phenomenology, pathophysiology, and possible genetic underpinnings. This study sought to identify factors that predict OCD and SPD in hair pullers. METHODS: Five hundred fifty-five adult female hair pullers were recruited from specialty clinics and assessed using standardized, semi-structured interviews and self-reports...
November 2016: Annals of Clinical Psychiatry: Official Journal of the American Academy of Clinical Psychiatrists
https://www.readbyqxmd.com/read/27895287/sudden-sensorineural-hearing-loss-is-there-a-connection-with-inner-ear-electrolytic-disorders-a-literature-review
#3
EDITORIAL
Andrea Ciorba, Virginia Corazzi, Chiara Bianchini, Claudia Aimoni, Henryk Skarzynski, Piotr Henryk Skarzynski, Stavros Hatzopoulos
Electrolytic disorders of the inner ear represent a model that could be implicated in partially explaining the pathogenesis of sudden sensorineural hearing loss (SSNHL). Different types of electrolytes and different inner-ear loci are involved in cochlear homeostasis physiologically, to ensure the maintenance of an ion-balanced cochlear environment allowing a normal hair cell function. It has been hypothesized that a sudden loss of endocochlear potential, due to a rapid disruption of the inner ear fluid osmolality, could be responsible for a deterioration of the hearing function caused by damaged hair cells...
December 2016: International Journal of Immunopathology and Pharmacology
https://www.readbyqxmd.com/read/27881935/hair-diseases-a-big-problem-on-a-small-surface
#4
REVIEW
Ligia A Brzezińska-Wcisło, Dominika Wcisło-Dziadecka
Civilizational progress initially contributes to the problem of hair loss and then to alopecia as regards both frequency and therapeutic dilemmas. The work presents trichological problems which occur more rarely, i.e. drug-induced, anagen and telogen alopecia, congenital and acquired structural hair disorders, psychic disturbances concerning the hair as well as the hair during menopause. Then, the article briefly describes contagious (infectious) diseases as well as diseases with inflammatory etiology which are accompanied by exfoliation and (frequently) pruritus...
October 2016: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/27878136/phenotypic-convergence-of-menkes-and-wilson-disease
#5
Boglarka Bansagi, David Lewis-Smith, Endre Pal, Jennifer Duff, Helen Griffin, Angela Pyle, Juliane S Müller, Gabor Rudas, Zsuzsanna Aranyi, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.(1,2) About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, and developmental delay.(2) The intracellular copper transport is regulated by 2 P type ATPase copper transporters ATP7A and ATP7B...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27869420/trichorhinophalangeal-syndrome-type-ii-presenting-with-short-stature-in-a-child
#6
Filiz Hazan, Hüseyin A Korkmaz, Kanay Yararbaş, Wim Wuyts, Ajlan Tükün
Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, trichorhinophalangeal syndrome type I (MIM#190350) and hereditary multiple osteochondromas type I (MIM # 133700). TRPSII is characterized by sparse scalp hair, a long nose with a bulbous tip, long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and multiple cartilaginous osteochondromas...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27867884/comparison-clinical-and-metabolic-effects-of-metformin-and-pioglitazone-in-polycystic-ovary-syndrome
#7
Karoon Shahebrahimi, Nasrin Jalilian, Nasrin Bazgir, Mansour Rezaei
INTRODUCTION: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women. PCOS comprises a broad spectrum of anomalies, including hyperandrogenism, chronic anovulation, obesity, and infertility. Insulin resistance and its compensatory hyperinsulinemia play a key role in the pathogenicity of PCOS. This study compares the effects of 2 types of insulin sensitizer drugs, metformin and pioglitazone, on clinical, metabolic, and endocrine characteristics of women with PCOS...
November 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27866090/relationship-between-anxiety-disorders-and-domains-of-health-related-quality-of-life-among-nigerians-with-breast-cancer
#8
Olamijulo Adedeji Fatiregun, Andrew Toyin Olagunju, Adebayo Rasheed Erinfolami, Olubunmi Ayodele Arogunmati, Omolara Amina Fatiregun, Joseph Dada Adeyemi
PURPOSE: Health Related Quality of life (HRQoL) is increasingly recognised as an important indicator of outcome and well-being in oncology care. We set out in this study to evaluate whether significant association exists between anxiety disorders (ADs) and HRQoL in breast cancer, such that any intervention addressing ADs would potentially improve HRQoL. METHODS: A cross sectional evaluation of 200 attendees of an oncology clinic was done using designed questionnaire to gather socio-demographic and clinical data...
November 17, 2016: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/27863645/identification-of-a-de-novo-mutation-of-sox10-in-a-chinese-patient-with-waardenburg-syndrome-type-iv
#9
Fenghe Liang, Min Zhao, Lynn Fan, Hongyan Zhang, Yang Shi, Rui Han, Chunyan Qu
OBJECTIVES: Waardenburg syndrome is a rare genetic disorder, characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Four subtypes have been classified. The present study aimed to analyze the clinical feature and investigate the genetic cause for a Chinese case of Waardenburg type IV (WS4). METHODS: The patient and his family members were subjected to mutation detection in the candidate gene SOX10 by Sanger sequencing. RESULTS: The patient has the clinical features of WS4, including sensorineural hearing loss, bright blue irides, premature graying of the hair and Hirschsprung disease...
December 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27853485/study-on-the-efficacy-of-platelet-rich-fibrin-matrix-in-hair-follicular-unit-transplantation-in-androgenetic-alopecia-patients
#10
Sandeep Mahapatra, Dhruva Kumar, Vignesh Subramanian, Swarup K Chakrabarti, Kaushik D Deb
Objective: Hair loss is a significant problem worldwide. The most common cause of hair loss in men is male androgenetic alopecia, male pattern baldness, which is primarily due to the presence of nonfunctional or dead hair follicles in the scalp. Hair follicular unit transplantation has been a widely used technique to transplant hair follicles into bald areas. Although follicular unit transplantation generally gives satisfactory hair transplantation, efforts have been made to further increase the efficacy of follicular unit transplantation in hair regeneration...
September 2016: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/27852232/novel-homozygous-missense-mutation-in-gan-associated-with-charcot-marie-tooth-disease-type-2-in-a-large-consanguineous-family-from-israel
#11
Sharon Aharoni, Katy E S Barwick, Rachel Straussberg, Gaurav V Harlalka, Yoram Nevo, Barry A Chioza, Meriel M McEntagart, Aviva Mimouni-Bloch, Michael Weedon, Andrew H Crosby
BACKGROUND: CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems, typically diagnosed in early childhood and resulting in death by the end of the third decade...
November 16, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27852057/novel-mutations-c-28g-t-p-ala10ser-and-c-189g-t-p-glu63asp-in-wdr62-associated-with-early-onset-acanthosis-and-hyperkeratosis-in-a-patient-with-autosomal-recessive-microcephaly-type-2
#12
Santasree Banerjee, Huishuang Chen, Hui Huang, Jing Wu, Zhiyun Yang, Weiping Deng, Dongna Chen, Jianlian Deng, Yan Su, Yang Li, Chao Wu, Ye Wang, Hao Zeng, Yiming Wang, Xunhua Li
Microcephaly (MCPH) is a developmental disorder characterized by reduced brain size and intellectual disability. A proportion of microcephaly is caused by defects in a single gene. Microcephaly 2 (MCPH2) is one of the most frequent subtypes of MCPH.WD repeat-containing protein 62 gene (WDR62) is the most frequently mutated gene in MCPH2 patients. Phenotypes involving dermatological changes in MCPH2 have not been reported. We have identified and investigated a 5-year-old Chinese girl with markedly reduced brain size (86% of normal size), intellectual disability and psychomotor developmental delay...
November 10, 2016: Oncotarget
https://www.readbyqxmd.com/read/27843927/alopecia-areata-as-a-manifestation-of-systemic-lymphoma-report-of-two-cases
#13
Yuval Ramot, Alexander Gural, Abraham Zlotogorski
Alopecia areata is a common autoimmune disorder leading to hair loss. It usually affects individuals under the age of 40, and first appearance in older subjects is considered uncommon. Here, we report 2 cases of rapidly progressing alopecia areata, which appeared for the first time in adults. Patient 1 had alopecia universalis, which preceded the identification of hepatosplenic T-cell lymphoma, a rare form of lymphoma. Patient 2 suffered from the ophiasis type of alopecia areata, presenting for the first time following chemotherapy for non-Hodgkin B-cell lymphoma...
September 2016: Skin Appendage Disorders
https://www.readbyqxmd.com/read/27843460/the-relationship-between-zinc-levels-and-autism-a-systematic-review-and-meta-analysis
#14
REVIEW
Nasim Babaknejad, Fatemeh Sayehmiri, Kourosh Sayehmiri, Ashraf Mohamadkhani, Somaye Bahrami
OBJECTIVE: Autism is a complex behaviorally defined disorder.There is a relationship between zinc (Zn) levels in autistic patients and development of pathogenesis, but the conclusion is not permanent. MATERIALS & METHODS: The present study conducted to estimate this probability using meta-analysis method. In this study, Fixed Effect Model, twelve articles published from 1978 to 2012 were selected by searching Google scholar, PubMed, ISI Web of Science, and Scopus and information were analyzed...
2016: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/27829221/mutation-analysis-of-a-chinese-family-with-oculocutaneous-albinism
#15
Xiong Wang, Yaowu Zhu, Na Shen, Jing Peng, Chunyu Wang, Haiyi Liu, Yanjun Lu
Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by either complete lack of or a reduction in melanin biosynthesis in the skin, hair, and eyes. OCA1, the most common and severe type, is caused by mutations in the tyrosinase (TYR) gene. In this study, we report a Chinese family with two members affected by OCA. Blood samples were collected from all family members. Genomic DNA was isolated from blood leukocytes, and all coding exons and adjacent intronic sequences of the TYR gene were examined for mutation analysis using polymerase chain reaction (PCR)-based sequencing...
November 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/27827514/trichotillomania-among-young-adults-prevalence-and-comorbidity
#16
Magdalena Grzesiak, Adam Reich, Jacek C Szepietowski, Tomasz Hadryś, Przemysław Pacan
Trichotillomania is an impulse control disorder characterized by repetitive pulling out of one's hair. The aim of this study was to estimate the prevalence of trichotillomania in young adults and its association with anxiety and obsessive-compulsive disorders (OCD). A total of 339 individuals completed a questionnaire to determine the presence of trichotillomania. OCD and anxiety disorders were diagnosed according to the diagnostic criteria of the International Classification of Diseases 10th Revision (ICD-10), based on the Composite International Diagnostic Interview...
November 9, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27816293/tofacitinib-for-the-treatment-of-severe-alopecia-areata-and-variants-a-study-of-90-patients
#17
Lucy Y Liu, Brittany G Craiglow, Feng Dai, Brett A King
BACKGROUND: Alopecia areata (AA) is a common autoimmune disorder. There are no reliably effective therapies for AA. OBJECTIVE: We sought to evaluate the safety and efficacy of the Janus kinase 1/3 inhibitor, tofacitinib, in a series of patients over an extended period of time. METHODS: This is a retrospective study of patients age 18 years or older with AA with at least 40% scalp hair loss treated with tofacitinib. The primary end point was the percent change in Severity of Alopecia Tool (SALT) score during treatment...
November 2, 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27815839/disruption-of-ninjurin1-leads-to-repetitive-and-anxiety-like-behaviors-in-mice
#18
Hoang Le, Bum Ju Ahn, Hye Shin Lee, Anna Shin, Sujin Chae, Sung Yi Lee, Min Wook Shin, Eun-Ji Lee, Jong-Ho Cha, Taekwon Son, Ji Hae Seo, Hee-Jun Wee, Hyo-Jong Lee, Yongwoo Jang, Eng H Lo, Sejin Jeon, Goo Taeg Oh, Daesoo Kim, Kyu-Won Kim
Over the last few decades, molecular neurobiology has uncovered many genes whose deficiency in mice results in behavioral traits associated with human neuropsychiatric disorders such as autism, obsessive-compulsive disorder (OCD), and schizophrenia. However, the etiology of these common diseases remains enigmatic with the potential involvement of a battery of genes. Here, we report abnormal behavioral phenotypes of mice deficient in a cell adhesion molecule Ninjurin 1 (Ninj1), which are relevant to repetitive and anxiety behaviors of neuropsychiatric disorders...
November 5, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27804012/a-preliminary-community-based-occupational-health-survey-of-black-hair-salon-workers-in-south-los-angeles
#19
Teniope A Adewumi-Gunn, Esmeralda Ponce, Nourbese Flint, Wendie Robbins
Black hair-salon workers face serious health hazards from the product they use on clients and other health hazards at their work. Currently there is a significant research gap in understanding the prevalence of workplace related exposures and health outcomes. The primary objective of this study was to gather preliminary data on workplace exposures and health outcomes of hair care workers in South Los Angeles. We conducted 22 surveys of salon workers at 16 salons. The results suggest the need for proper health and safety training within the salon worker community, specifically around chemical hair services...
November 1, 2016: Journal of Immigrant and Minority Health
https://www.readbyqxmd.com/read/27795902/lipedematous-alopecia-clinical-and-histological-analysis-of-the-first-male-chinese
#20
Wei Wang, Guizhi Zhou, Yanfang Zhang, Changping Yu, Furen Zhang
BACKGROUND: Lipedematous alopecia (LA) is a rare disorder clinically characterized by a thick boggy scalp and varying severity of hair loss, which primarily occurs in black female adults. In this study, we reported one male adult Chinese diagnosed with lipedematous alopecia for the first time. CASE PRESENTATION: A Chinese male, aged 20 years old, admitted to Shandong Provincial Hospital for Skin Diseases was diagnosed with LA. Clinical, histological and imaging data were collected and analyzed...
2016: SpringerPlus
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