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https://www.readbyqxmd.com/read/28213676/-psychosomatic-disorders-of-the-scalp
#1
REVIEW
W Harth
Psychosomatic disorders of the scalp have some special characteristics due to the visibility, possible stigmatization, and amount/patterns of hair. Of practical relevance is trichotillomania, which is now classified as an obsessive-compulsive disorder (OCD). Patients who are obsessed with normal physiological hair loss represent a further psychodermatological challenge. Psychosomatic therapy includes basic psychosomatic care, behavior therapy, or treatment with psychopharmaceuticals.
February 17, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28209736/pejvakin-a-candidate-stereociliary-rootlet-protein-regulates-hair-cell-function-in-a-cell-autonomous-manner
#2
Marcin Kazmierczak, Piotr Kazmierczak, Anthony W Peng, Suzan L Harris, Prahar Shah, Jean-Luc Puel, Marc Lenoir, Santos J Franco, Martin Schwander
Mutations in the Pejvakin (PJVK) gene are thought to cause auditory neuropathy and hearing loss of cochlear origin by affecting noise-induced peroxisome proliferation in auditory hair cells and neurons. Here we demonstrate that loss of pejvakin in hair cells, but not in neurons, causes profound hearing loss and outer hair cell degeneration in mice. Pejvakin binds to and co-localizes with the rootlet component TRIOBP at the base of stereocilia in injectoporated hair cells, a pattern that is disrupted by deafness-associated PJVK mutations...
February 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28183072/alternative-therapies-for-excoriation-skin-picking-disorder-a-brief-update
#3
Julio Torales, Iván Barrios, Jorge Villalba
Context • Excoriation (skin picking) disorder is characterized by the need or urge to pick, scratch, pinch, touch, rub, scrub, squeeze, bite, or dig the skin, and it can be a perplexing condition for the inexperienced physician. Treatments include pharmacotherapy, psychotherapy, and alternative therapies. Alternative therapies for excoriation disorder and other body-focused repetitive behaviors include yoga, aerobic exercise, acupuncture, biofeedback, hypnosis, and inositol and N-acetylcysteine, among others...
January 2017: Advances in Mind-body Medicine
https://www.readbyqxmd.com/read/28178980/novel-neuro-audiological-findings-and-further-evidence-for-twnk-involvement-in-perrault-syndrome
#4
Monika Ołdak, Dominika Oziębło, Agnieszka Pollak, Iwona Stępniak, Michal Lazniewski, Urszula Lechowicz, Krzysztof Kochanek, Mariusz Furmanek, Grażyna Tacikowska, Dariusz Plewczynski, Tomasz Wolak, Rafał Płoski, Henryk Skarżyński
BACKGROUND: Hearing loss and ovarian dysfunction are key features of Perrault syndrome (PRLTS) but the clinical and pathophysiological features of hearing impairment in PRLTS individuals have not been addressed. Mutations in one of five different genes HSD17B4, HARS2, LARS2, CLPP or TWNK (previous symbol C10orf2) cause the autosomal recessive disorder but they are found only in about half of the patients. METHODS: We report on two siblings with a clinical picture resembling a severe, neurological type of PRLTS...
February 8, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28165476/gene-therapy-restores-auditory-and-vestibular-function-in-a-mouse-model-of-usher-syndrome-type-1c
#5
Bifeng Pan, Charles Askew, Alice Galvin, Selena Heman-Ackah, Yukako Asai, Artur A Indzhykulian, Francine M Jodelka, Michelle L Hastings, Jennifer J Lentz, Luk H Vandenberghe, Jeffrey R Holt, Gwenaëlle S Géléoc
Because there are currently no biological treatments for hearing loss, we sought to advance gene therapy approaches to treat genetic deafness. We focused on Usher syndrome, a devastating genetic disorder that causes blindness, balance disorders and profound deafness, and studied a knock-in mouse model, Ush1c c.216G>A, for Usher syndrome type IC (USH1C). As restoration of complex auditory and balance function is likely to require gene delivery systems that target auditory and vestibular sensory cells with high efficiency, we delivered wild-type Ush1c into the inner ear of Ush1c c...
February 6, 2017: Nature Biotechnology
https://www.readbyqxmd.com/read/28165475/a-synthetic-aav-vector-enables-safe-and-efficient-gene-transfer-to-the-mammalian-inner-ear
#6
Lukas D Landegger, Bifeng Pan, Charles Askew, Sarah J Wassmer, Sarah D Gluck, Alice Galvin, Ruth Taylor, Andrew Forge, Konstantina M Stankovic, Jeffrey R Holt, Luk H Vandenberghe
Efforts to develop gene therapies for hearing loss have been hampered by the lack of safe, efficient, and clinically relevant delivery modalities. Here we demonstrate the safety and efficiency of Anc80L65, a rationally designed synthetic vector, for transgene delivery to the mouse cochlea. Ex vivo transduction of mouse organotypic explants identified Anc80L65 from a set of other adeno-associated virus (AAV) vectors as a potent vector for the cochlear cell targets. Round window membrane injection resulted in highly efficient transduction of inner and outer hair cells in mice, a substantial improvement over conventional AAV vectors...
February 6, 2017: Nature Biotechnology
https://www.readbyqxmd.com/read/28165377/erythroid-differentiation-regulator-1-as-a-novel-biomarker-for-hair-loss-disorders
#7
Yu Ri Woo, Sewon Hwang, Seo Won Jeong, Dae Ho Cho, Hyun Jeong Park
Erythroid differentiation regulator 1 (Erdr1) is known to be involved in the inflammatory process via regulating the immune system in many cutaneous disorders, such as psoriasis and rosacea. However, the role of Erdr1 in various hair loss disorders remains unclear. The aim of this study was to investigate the putative role of Erdr1 in alopecias. Skin samples from 21 patients with hair loss disorders and five control subjects were retrieved, in order to assess their expression levels of Erdr1. Results revealed that expression of Erdr1 was significantly downregulated in the epidermis and hair follicles of patients with hair loss disorders, when compared to that in the control group...
February 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28157540/large-intragenic-deletion-in-dstyk-underlies-autosomal-recessive-complicated-spastic-paraparesis-spg23
#8
John Y W Lee, Chao-Kai Hsu, Magdalene Michael, Arti Nanda, Lu Liu, James R McMillan, Celine Pourreyron, Takuya Takeichi, Jakub Tolar, Evan Reid, Thomas Hayday, Sergiu C Blumen, Saif Abu-Mouch, Rachel Straussberg, Lina Basel-Vanagaite, Yael Barhum, Yasmin Zouabi, Hejab Al-Ajmi, Hsin-Yu Huang, Ting-Chien Lin, Masashi Akiyama, Julia Y Y Lee, W H Irwin McLean, Michael A Simpson, Maddy Parsons, John A McGrath
SPG23 is an autosomal-recessive neurodegenerative subtype of lower limb spastic paraparesis with additional diffuse skin and hair dyspigmentation at birth followed by further patchy pigment loss during childhood. Previously, genome-wide linkage in an Arab-Israeli pedigree mapped the gene to an approximately 25 cM locus on chromosome 1q24-q32. By using whole-exome sequencing in a further Palestinian-Jordanian SPG23 pedigree, we identified a complex homozygous 4-kb deletion/20-bp insertion in DSTYK (dual serine-threonine and tyrosine protein kinase) in all four affected family members...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28145909/novel-tbx3-mutation-in-a-family-of-cypriot-ancestry-with-ulnar-mammary-syndrome
#9
George A Tanteles, Nayia Nicolaou, Andreas Syrimis, Rafaella Metaxa, Michael Nicolaou, Violetta Christophidou-Anastasiadou, Nicos Skordis
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial variability in phenotypic expression. We report a family (twin brothers and their father) affected with UMS because of a novel TBX3 mutation. The twin brothers showed classical features of UMS, whereas their father was mildly affected. The c.1423C>T (p.Q475*) nonsense mutation in exon 6 of the TBX3 gene identified in the patients by targeted Sanger sequencing is predicted to lead to premature termination of translation...
January 31, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28144274/noonan-syndrome-a-new-survey
#10
Alireza Tafazoli, Peyman Eshraghi, Zahra Kamel Koleti, Mohammadreza Abbaszadegan
Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome...
February 1, 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28143780/msi2-maintains-quiescent-state-of-hair-follicle-stem-cells-by-directly-repressing-the-hh-signaling-pathway
#11
Xianghui Ma, Yuhua Tian, Yongli Song, Jianyun Shi, Jiuzhi Xu, Kai Xiong, Jia Li, Wenjie Xu, Yiqiang Zhao, Jianwei Shuai, Lei Chen, Maksim V Plikus, Christopher Lengner, Fazheng Ren, Lixiang Xue, Zhengquan Yu
Hair follicles (HFs) undergo precisely regulated cycles of active regeneration consisting of (anagen), involution (catagen), and relative quiescence (telogen) phases. HF stem cells (HFSCs) play important roles in regenerative cycling. Elucidating mechanisms that governs HFSC behavior can help uncover the underlying principles of hair development, hair growth disorders and skin cancers. RNA-binding proteins of the Musashi (Msi) have been implicated in the biology of different stem cell types, yet they have not been studied in HFSCs...
January 28, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28143628/pulling-your-hair-out-in-geriatric-psychiatry-a-case-report
#12
Mairead M Bartley, Maria I Lapid, Jon E Grant
Trichotillomania is a relatively understudied psychiatric disorder. Even less is known about this disorder in the elderly. We describe an unusual case of an elderly woman presenting for the first time with trichotillomania at age 70 and highlight the treatment complexities we encountered.
February 1, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28143435/genetic-characterization-of-italian-patients-with-bardet-biedl-syndrome-and-correlation-to-ocular-renal-and-audio-vestibular-phenotype-identification-of-eleven-novel-pathogenic-sequence-variants
#13
Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Alessia Crispo, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Marcella D'Antonio, Tiziana Fioretti, Pasquale Iadicicco, Settimio Rossi, Annamaria Franzè, Elio Marciano, Giovanbattista Capasso, Francesca Simonelli, Francesco Salvatore
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS. METHODS: We analyzed three common BBS genes, BBS1, BBS10 and BBS2, in 25 Italian patients fulfilling the clinical criteria of BBS...
February 1, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28138188/skin-of-colour-characteristics-and-disease
#14
Zohra Zaidi
Skin colour varies from pale white to very dark. Fitzpatrick's skin phototypes are based on the person's skin colour and its response to sun exposure in terms of burning and tanning of the skin. Fitzpatrick's type 1V-V1 is known as the skin of colour and type 1-111 is the fair or white skin. The colour of the skin and texture of the hair are the most apparent phenotype to differentiate the different races; this correlates closely with the geography and ultraviolet radiation of the sun. There are notable differences in skin disease incidence, presentation, and treatment based on skin type...
February 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28135674/stress-related-and-basic-determinants-of-hair-cortisol-in-humans-a-meta-analysis
#15
REVIEW
Tobias Stalder, Susann Steudte-Schmiedgen, Nina Alexander, Tim Klucken, Annika Vater, Susann Wichmann, Clemens Kirschbaum, Robert Miller
The analysis of hair cortisol concentrations (HCC) is a relatively new strategy to measure long-term cumulative cortisol levels, which is increasingly used in psychoneuroendocrinological research. Here, we conduct a first comprehensive meta-analysis of HCC research based on aggregated data from a total of 124 (sub)samples (66 independent studies; total N=10,289). We seek to answer two central questions: (i) Which covariates and basic features of HCC need to be considered in future research? (ii) What are the main determinants of HCC in terms of chronic stress exposure and mental health? Concerning basic characteristics, our findings identify several covariates to be considered (age, sex, hair washing frequency, hair treatment, oral contraceptive use), confirm a decline of HCC from the first to the second proximal 3cm hair segment, and show positive associations between HCC and short-term salivary cortisol measures...
January 10, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28127322/a-multidisciplinary-approach-to-a-seven-year-old-patient-with-incontinentia-pigmenti-a-case-report-and-five-year-follow-up
#16
Rezvan Rafatjou, Fariborz Vafaee, Hanif Allahbakhshi, Porousha Mahjoub
Incontinentia pigmenti is a rare inherited disorder involving abnormalities of the skin, hair, eyes, musculoskeletal system, central nervous system, and the teeth. Dental abnormalities are the most common manifestations of this disorder. The purpose of this case report was to present the clinical and radiological findings of a seven-year-old girl as well as the results of her five-year follow up. The patient showed faded linear pigmented macular lesions on the trunk and on upper and lower limbs. Dental examination was notable for conical and peg-shaped anterior teeth as well as delayed eruption of primary and permanent teeth...
August 2016: Journal of Dentistry of Tehran University of Medical Sciences
https://www.readbyqxmd.com/read/28126377/defects-in-lymphocyte-telomere-homeostasis-contribute-to-cellular-immune-phenotype-in-cartilage-hair-hypoplasia
#17
Geraldine Aubert, Kevin A Strauss, Peter M Lansdorp, Nicholas L Rider
BACKGROUND: Mutations in the lncRNA RNase component of the Mitochondrial RNA Processing endoribonuclease (RMRP) give rise to the autosomal recessive condition cartilage-hair hypoplasia (CHH). The CHH disease phenotype has some overlap with dyskeratosis congenita, a well known "telomere disorder". RMRP binds the telomerase reverse transcriptase protein TERT in some cell lines, raising the possibility that RMRP may play a role in telomere biology. OBJECTIVE: We sought to determine if a telomere phenotype is present in immune cells from individuals with CHH and explore mechanisms underlying these observations...
January 23, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28122298/stress-vulnerability-in-male-youth-with-internet-gaming-disorder
#18
Michael Kaess, Peter Parzer, Laura Mehl, Luisa Weil, Esther Strittmatter, Franz Resch, Julian Koenig
Internet Gaming Disorder [IGD] was introduced as new behavioral addiction in DSM-5 Section 3. Vulnerability to stress is a potential predisposing factor for IGD. Given a lack of preexisting empirical data, the study investigated differences in the psychological and neurobiological response to acute stress in patients with IGD. 24 young men (mean age 18.38 years; range 13-25 years) fulfilling DSM-5 criteria for IGD and 25 matched controls underwent the Trier Social Stress Test [TSST]. Participants provided hair samples for the analysis of basal hypothalamic-pituitary-adrenal [HPA] axis activity and clinical interviews were conducted to assess psychopathology...
January 10, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28118168/increased-trichotillomania-symptoms-in-a-child-with-fluoxetine-treatment
#19
Çiğdem Yektaş, Ali Evren Tufan
Trichotillomania (TTM) is a mental disorder characterized by uncontrolled and impulsive hair pulling leading to hair loss, distress, and disordered functioning. Treatment choices include behavioral therapy (especially habit reversal training) and selective serotonin reuptake inhibitors. However, randomized controlled trials conducted with selective serotonin reuptake inhibitors have led to controversial results of effectiveness for TTM. Here, we report a female patient whose TTM symptoms increased after fluoxetine use...
January 23, 2017: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/28112372/identification-of-a-missense-mutation-in-the-tyrosinase-gene-in-a-chinese-family-with-oculocutaneous-albinism-type-1
#20
Qian Lu, Lamei Yuan, Hongbo Xu, Xiangjun Huang, Zhijian Yang, Junhui Yi, Bin Ni, Yong Chen, Hao Deng
Oculocutaneous albinism (OCA) is a group of heterogeneous and autosomal recessive disorders characterized by a reduction or complete loss of melanin biosynthesis in melanocytes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR). The present study aimed to identify the genetic cause of OCA1 in a four‑generation consanguineous Chinese Han family. Complete physical examinations were performed and blood samples were collected from five members of the family and 100 unrelated healthy controls...
January 23, 2017: Molecular Medicine Reports
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