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https://www.readbyqxmd.com/read/28325649/elemental-analysis-of-serum-and-hair-from-pre-eclamptic-south-african-women
#1
K Maduray, J Moodley, C Soobramoney, R Moodley, T Naicker
Pre-eclampsia is a hypertensive disorder that is associated with adverse maternal and perinatal outcomes. It has been proposed that specific trace and macro elements associated with antioxidant activities may also play a contributory role in aetiology of pre-eclampsia. The aim of this study was to measure the concentrations of thirteen different elements in hair and serum samples from women with a diagnosis of pre-eclampsia and compare them with normotensive controls. Venous blood and pubic hair samples were collected from forty-three pre-eclamptic and twenty-three normotensive pregnant women...
March 9, 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/28321398/unveiling-the-metabolic-changes-on-muscle-cell-metabolism-underlying-p-phenylenediamine-toxicity
#2
Igor Marín de Mas, Silvia Marín, Gisela Pachón, Juan C Rodríguez-Prados, Pedro Vizán, Josep J Centelles, Romà Tauler, Amaya Azqueta, Vitaly Selivanov, Adela López de Ceraín, Marta Cascante
Rhabdomyolysis is a disorder characterized by acute damage of the sarcolemma of the skeletal muscle leading to release of potentially toxic muscle cell components into the circulation, most notably creatine phosphokinase (CK) and myoglobulin, and is frequently accompanied by myoglobinuria. In the present work, we evaluated the toxicity of p-phenylenediamine (PPD), a main component of hair dyes which is reported to induce rhabdomyolysis. We studied the metabolic effect of this compound in vivo with Wistar rats and in vitro with C2C12 muscle cells...
2017: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/28300084/alopecia-areata
#3
REVIEW
C Herbert Pratt, Lloyd E King, Andrew G Messenger, Angela M Christiano, John P Sundberg
Alopecia areata is an autoimmune disorder characterized by transient, non-scarring hair loss and preservation of the hair follicle. Hair loss can take many forms ranging from loss in well-defined patches to diffuse or total hair loss, which can affect all hair-bearing sites. Patchy alopecia areata affecting the scalp is the most common type. Alopecia areata affects nearly 2% of the general population at some point during their lifetime. Skin biopsies of affected skin show a lymphocytic infiltrate in and around the bulb or the lower part of the hair follicle in the anagen (hair growth) phase...
March 16, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28299823/monilethrix-in-monozygotic-twins-with-very-rare-mutation-in-krt-86-gene
#4
B Nedoszytko, Z Lewicka-Potocka, A Szczerkowska-Dobosz, J Gleń, B Bykowska, J Świątecka-Czaj, R Nowicki
Monilethrix is a heretitary disorder, characterized by abnormal hair shafts with nodes and narrow internodes [1], typically caused by autosomal dominant mutations in type II hair keratin genes KRT 81, KRT 83 and KRT 86 [2-8]. Rarely, autosomal recessive mutation in desmoglein 4 gene may be responsible for the disease [9,10]. Among affected family members, symptoms may vary from almost normal scalp to alopecia, moreover the severity of the disease may change during patient life. This article is protected by copyright...
March 16, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28298997/tricho-dento-osseous-syndrome-and-precocious-eruption
#5
Parul Jain, Rahul Kaul, Subrata Saha, Subir Sarkar
Tricho-dento-osseous syndrome (TDO), an uncommon form of ectodermal dysplasia is an autosomal dominant genetic disorder which is characterized by inherited defects in tissues arising from epithelial-mesenchymal interaction. Genetic studies have revealed that it is caused by mutation in the DLX3 gene. TDO presents with a great phenotypic heterogeneity and studies have suggested that this heterogeneity is the result of environmental factors or other genetic modifiers. In this article, we report a case of TDO in which the child had typical clinical features of hair, teeth and bone defects, as seen in TDO...
March 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28298846/menkes-disease-and-response-to-copper-histidine-an-indian-case-series
#6
Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
BACKGROUND: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28297138/a-novel-homozygous-missense-mutation-in-hoxc13-leads-to-autosomal-recessive-pure-hair-and-nail-ectodermal-dysplasia
#7
Xiaoxiao Li, Meredith Lee Orseth, J Michael Smith, Mary Abigail Brehm, Nnenna Gebechi Agim, Donald Alexander Glass
Pure hair and nail ectodermal dysplasia (PHNED) is a rare disorder that presents with hypotrichosis and nail dystrophy while sparing other ectodermal structures such as teeth and sweat glands. We describe a homozygous novel missense mutation in the HOXC13 gene that resulted in autosomal recessive PHNED in a Hispanic child. The mutation c.812A>G (p.Gln271Arg) is located within the DNA-binding domain of the HOXC13 gene, cosegregates within the family, and is predicted to be maximally damaging. This is the first reported case of a missense HOXC13 mutation resulting in PHNED and the first reported case of PHNED identified in a North American family...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28292286/exome-sequencing-identifies-a-novel-ttc37-mutation-in-the-first-reported-case-of-trichohepatoenteric-syndrome-the-s-in-south-africa
#8
Craig Kinnear, Brigitte Glanzmann, Eric Banda, Nikola Schlechter, Glenda Durrheim, Annika Neethling, Etienne Nel, Mardelle Schoeman, Glynis Johnson, Paul D van Helden, Eileen G Hoal, Monika Esser, Michael Urban, Marlo Möller
BACKGROUND: Trichohepatoenteric syndrome (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, facial dysmorphism, immunodeficiency and woolly hair. It was first described in 1982 in two infants with intractable diarrhoea, liver cirrhosis and abnormal hair structure on microscopy. We report on two siblings from a consanguineous family of Somali descent who, despite extensive clinical investigation, remained undiagnosed until their demise...
March 14, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28291263/circumcision-does-not-alter-long-term-glucocorticoids-accumulation-or-psychological-effects-associated-with-trauma-and-stressor-related-disorders
#9
E Ullmann, J Licinio, A Barthel, K Petrowski, B Oratovski, T Stalder, C Kirschbaum, S R Bornstein
Male infants and boys through early adolescence can undergo circumcision either for the sake of upholding religious traditions or for medical reasons. According to both, Jewish as well as Islamic tenets, circumcision is a religious rite symbolizing the bond with God. The World Health Organization (WHO), the United Nations Council (UNC) as well as the American Academy of Pediatrics (AAP), and the Centers for Disease Control and Prevention (CDC) strongly recommend circumcision to promote hygiene and prevent disease...
March 14, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28287404/mutations-in-%C3%AE-secretase-subunit-encoding-psenen-underlie-dowling-degos-disease-associated-with-acne-inversa
#10
Damian J Ralser, F Buket Ü Basmanav, Aylar Tafazzoli, Jade Wititsuwannakul, Sarah Delker, Sumita Danda, Holger Thiele, Sabrina Wolf, Michélle Busch, Susanne A Pulimood, Janine Altmüller, Peter Nürnberg, Didier Lacombe, Uwe Hillen, Jörg Wenzel, Jorge Frank, Benjamin Odermatt, Regina C Betz
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in KRT5, POFUT1, and POGLUT1 have been excluded. Further examination revealed that the histopathologic feature of follicular hyperkeratosis distinguished these 6 patients from previously studied individuals with DDD...
March 13, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28272467/meta-analysis-identifies-novel-risk-loci-and-yields-systematic-insights-into-the-biology-of-male-pattern-baldness
#11
Stefanie Heilmann-Heimbach, Christine Herold, Lara M Hochfeld, Axel M Hillmer, Dale R Nyholt, Julian Hecker, Asif Javed, Elaine G Y Chew, Sonali Pechlivanis, Dmitriy Drichel, Xiu Ting Heng, Ricardo C-H Del Rosario, Heide L Fier, Ralf Paus, Rico Rueedi, Tessel E Galesloot, Susanne Moebus, Thomas Anhalt, Shyam Prabhakar, Rui Li, Stavroula Kanoni, George Papanikolaou, Zoltán Kutalik, Panos Deloukas, Michael P Philpott, Gérard Waeber, Tim D Spector, Peter Vollenweider, Lambertus A L M Kiemeney, George Dedoussis, J Brent Richards, Michael Nothnagel, Nicholas G Martin, Tim Becker, David A Hinds, Markus M Nöthen
Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, comprising 10,846 early-onset cases and 11,672 controls from eight independent cohorts. We identify 63 MPB-associated loci (P<5 × 10(-8), METAL) of which 23 have not been reported previously. The 63 loci explain ∼39% of the phenotypic variance in MPB and highlight several plausible candidate genes (FGF5, IRF4, DKK2) and pathways (melatonin signalling, adipogenesis) that are likely to be implicated in the key-pathophysiological features of MPB and may represent promising targets for the development of novel therapeutic options...
March 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/28270193/cutaneous-neurogenic-inflammation-in-the-sensitized-acupoints-induced-by-gastric-mucosal-injury-in-rats
#12
Wei He, Xiao-Yu Wang, Hong Shi, Wan-Zhu Bai, Bin Cheng, Yang-Shuai Su, Xiao-Chun Yu, Xiang-Hong Jing, Bing Zhu
BACKGROUND: In acupuncture practice, the most important step is to confirm the location of a sensitized acupoint which reflects a diagnosis and can be stimulated with a specialized needle to treat the disease. Abnormal symptoms such as hyperalgesia or allodynia at the sensitized acupoints in patients with visceral disorders are considered to be in relation with referred pain and neurogenic inflammation. Yet, limited study has investigated the cutaneous neurochemical changes of the sensitized acuponits...
March 7, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28270149/chronic-exposure-to-arsenic-line-1-hypomethylation-and-blood-pressure-a-cross-sectional-study-in-bangladesh
#13
Khaled Hossain, Takehiro Suzuki, M M Hasibuzzaman, Md Shofikul Islam, Atiqur Rahman, Sudip Kumar Paul, Tanzina Tanu, Shakhawoat Hossain, Zahangir Alam Saud, Mashiur Rahman, Farjana Nikkon, Hideki Miyataka, Seiichiro Himeno, Keiko Nohara
BACKGROUND: Chronic exposure to arsenic is associated with cancer and hypertension. Growing evidence suggests that altered methylation in long interspersed nuclear element-1 (LINE-1) is involved in many types of disorders, including cardiovascular disease. Here we evaluated the association between arsenic exposure and LINE-1 methylation levels, especially in relation to blood pressure (BP). METHODS: A total of 236 subjects (175 from arsenic-endemic areas and 61 from a non-endemic area) in rural Bangladesh were recruited...
March 7, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28267148/elevated-hair-cortisol-concentrations-in-recently-fled-asylum-seekers-in-comparison-to-permanently-settled-immigrants-and-non-immigrants
#14
R Mewes, H Reich, N Skoluda, F Seele, U M Nater
Recently fled asylum seekers generally live in stressful conditions. Their residency status is mostly insecure and, similar to other immigrants, they experience stress due to acculturation. Moreover, they often suffer from traumatization and posttraumatic stress disorder (PTSD). All of these factors can result in chronic maladaptive biological stress responses in terms of hyper- or hypocortisolism and, ultimately, illness. We believe the current study is the first to compare hair cortisol concentration (HCC) of recently fled asylum seekers with PTSD to those without PTSD, and to compare HCC of asylum seekers to HCC of permanently settled immigrants and non-immigrant individuals...
March 7, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28266599/double-stranded-rna-induces-inflammation-via-the-nf-%C3%AE%C2%BAb-pathway-and-inflammasome-activation-in-the-outer-root-sheath-cells-of-hair-follicles
#15
Jung-Min Shin, Dae-Kyoung Choi, Kyung-Cheol Sohn, Soo-Yeon Kim, Jeong Min Ha, Young Ho Lee, Myung Im, Young-Joon Seo, Chang Deok Kim, Jeung-Hoon Lee, Young Lee
Alopecia areata (AA), a chronic, relapsing, hair-loss disorder, is considered to be a T cell-mediated autoimmune disease. It affects approximately 1.7% of the population, but its precise pathogenesis remains to be elucidated. Despite the recent attention focused on the roles of inflammasomes in the pathogenesis of autoinflammatory diseases, little is known about inflammasome activation in AA. Thus, in this study, we investigated the pattern of NLRP3 inflammasome activation in the outer root sheath (ORS) cells of hair follicles...
March 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28264599/bimatoprost-for-the-treatment-of-eyelash-eyebrow-and-scalp-alopecia
#16
Yevher Lorena Barrón-Hernández, Antonella Tosti
Alopecia is a common condition observed among people of all ages. It is a disorder that can involve only the scalp as observed in androgenetic alopecia or scalp and body as in alopecia areata or patients under chemotherapy treatment. There are several treatment options with different safety and efficacy outcomes. Bimatoprost, a synthetic prostamide F2α analog originally approved for the treatment of ocular hypertension and open-angle glaucoma, is now FDA approved as a 0.03%, solution to be applied once daily to increase eyelashes growth...
March 16, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/28259916/notch-signaling-is-significantly-suppressed-in-basal-cell-carcinomas-and-activation-induces-basal-cell-carcinoma-cell-apoptosis
#17
Feng-Tao Shi, Mei Yu, David Zloty, Robert H Bell, Eddy Wang, Noushin Akhoundsadegh, Gigi Leung, Anne Haegert, Nicholas Carr, Jerry Shapiro, Kevin J McElwee
A subset of basal cell carcinomas (BCCs) are directly derived from hair follicles (HFs). In some respects, HFs can be defined as 'ordered' skin appendage growths, while BCCs can be regarded as 'disordered' skin appendage growths. The aim of the present study was to examine HFs and BCCs to define the expression of common and unique signaling pathways in each skin appendage. Human nodular BCCs, along with HFs and non‑follicular skin epithelium from normal individuals, were examined using microarrays, qPCR, and immunohistochemistry...
February 2, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28256045/two-cases-of-legg-perthes-and-intellectual-disability-in-tricho-rhino-phalangeal-syndrome-type-1-associated-with-novel-trps1-mutations
#18
Jordana L Gilman, Heather A Newman, Rebecca Freeman, Kathryn E Singh, Rebecca L Puckett, David K Morohashi, Constance Stein, Kathryn Palomino, Robert Roger Lebel, Virginia E Kimonis
Tricho-Rhino-Phalangeal syndrome is a rare autosomal dominant genetic disorder caused by mutations in the TRPS1 gene. This malformation syndrome is characterized by distinctive craniofacial features including sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. In this report, we describe two patients with the physical manifestations and genotype of TRPS type I but with learning/intellectual disability not typically described as part of the syndrome...
March 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28254438/gene-therapy-restores-balance-and-auditory-functions-in-a-mouse-model-of-usher-syndrome
#19
Kevin Isgrig, Jack W Shteamer, Inna A Belyantseva, Meghan C Drummond, Tracy S Fitzgerald, Sarath Vijayakumar, Sherri M Jones, Andrew J Griffith, Thomas B Friedman, Lisa L Cunningham, Wade W Chien
Dizziness and hearing loss are among the most common disabilities. Many forms of hereditary balance and hearing disorders are caused by abnormal development of stereocilia, mechanosensory organelles on the apical surface of hair cells in the inner ear. The deaf whirler mouse, a model of human Usher syndrome (manifested by hearing loss, dizziness, and blindness), has a recessive mutation in the whirlin gene, which renders hair cell stereocilia short and dysfunctional. In this study, wild-type whirlin cDNA was delivered to the inner ears of neonatal whirler mice using adeno-associated virus serotype 2/8 (AAV8-whirlin) by injection into the posterior semicircular canal...
March 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28251481/hair-zinc-and-severity-of-symptoms-are-increased-in-children-with-attention-deficit-and-hyperactivity-disorder-a-hair-multi-element-profile-study
#20
Torsak Tippairote, Piya Temviriyanukul, Wenika Benjapong, Dunyaporn Trachootham
Determination of bioelement levels in hair is an emerging non-invasive approach for screening bioelement deposition. However, the role of essential bioelement levels in hair and attention deficit/hyperactivity disorder (ADHD) risk or severity is largely unknown. In this study, we have compared multi-element hair profiles between healthy and ADHD Thai children. In addition, the correlations between bioelements and ADHD symptoms according to Diagnostic and Statistical Manual of Mental Disorders, 5th edition, diagnostic criteria were identified...
March 1, 2017: Biological Trace Element Research
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