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https://www.readbyqxmd.com/read/28636882/foxn1-italian-founder-mutation-in-indian-family-implications-in-prenatal-diagnosis
#1
Akella Radha Rama Devi, Nagesh Narayan Panday, Shaik Mohammad Naushad
The Forkhead box N1 (FOXN1) is a transcriptional factor regulating the development, differentiation and function of thymic epithelial cells; maintaining T-lineage progenitors in bone marrow; promoting terminal differentiation of epithelial cells of hair follicles. Mutation in FOXN1 was reported to cause a rare disorder characterized by rudimentary thymus gland, T-cell immunodeficiency, congenital alopecia and nail dystrophy within an Italian community. This is the first report of FOXN1 p.R255X mutation from India, outside this endogamous Italian community...
June 18, 2017: Gene
https://www.readbyqxmd.com/read/28628502/placebo-response-in-trichotillomania
#2
Jon E Grant, Samuel R Chamberlain, Sarah A Redden, Brian L Odlaug, Michael van Ameringen, Darin D Dougherty, Nancy J Keuthen, Suck W Kim
Trichotillomania is a functionally impairing, often overlooked disorder with no Food and Drug Administration-approved medications indicated for its treatment. The ability of clinical trials to detect the beneficial effects of pharmacologic treatment in trichotillomania has been hampered by the high placebo response rate. Very little is known about baseline demographic and clinical characteristics that may be predictive of placebo response in such patients. Overall, 104 participants assigned to placebo were pooled from five double-blind trials conducted at three sites in the USA and Canada...
June 16, 2017: International Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28625464/becker-s-nevus-and-lethal-beta-actin-mutations
#3
Rudolf Happle
The etiology of Becker's nevus and Becker's nevus syndrome has been until now unknown. Cai et al. provide evidence that these disorders are caused by lethal mutations in ACTB, a gene coding for beta-actin. They hypothesize that these mutations may interfere with Hedgehog pathway signaling. Their findings have important implications for clinical genetics, and they open new aspects in hair research.
June 16, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28614181/cochleovestibular-gene-transfer-in-neonatal-mice-by-canalostomy
#4
Jing-Ying Guo, Yu-Ying Liu, Teng-Fei Qu, Zhe Peng, Jing Xie, Guo-Peng Wang, Shu-Sheng Gong
Impairments of the inner ear result in sensorineural hearing loss and vestibular dysfunction in humans. A large proportion of these disorders are congenital, and involve both auditory and vestibular systems. Therefore, genetic interventions to correct deficits must be administered during early developmental stages. In this study, we evaluated inner ear gene transfer in neonatal mice by canalostomy using an adeno-associated virus serotype 8 (AAV8) vector. AAV8 with the green fluorescence protein (GFP) gene was inoculated into the inner ear of the neonatal mice through the posterior semicircular canal (canalostomy)...
June 13, 2017: Neuroreport
https://www.readbyqxmd.com/read/28612063/bioelements-in-hair-of-children-with-selected-neurological-disorders
#5
Jan Józefczuk, Wiktoria Kasprzycka, Rafał Czarnecki, Alfreda Graczyk, Paweł Józefczuk, Magda Krzysztof, Urszula Lampart, Ewa Mrozowska-Ząbek, Weronika Surdy, Róża Kwiatkowska-Graczyk
We have analyzed concentrations of magnesium (Mg), calcium (Ca), copper (Cu), zinc (Zn) and iron (Fe) in hair of a group of 82 children with mental retardation, in which 9 patients suffered from epilepsy, 18 from the Down's syndrome and 55 from cerebral palsy. Girls comprised little over 50% of the patients. In the group of boys with epilepsy, we found Mg, Ca, Cu and Fe deficiency, and normal level of Zn. In the group of girls with epilepsy, apart from low Fe concentration, a high level of Ca, Mg, Zn, and Cu was noted...
2017: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/28603488/hypothesis-of-k-recycling-defect-is-not-a-primary-deafness-mechanism-for-cx26-gjb2-deficiency
#6
REVIEW
Hong-Bo Zhao
K(+)-recycling defect is a long-standing hypothesis for deafness mechanism of Connexin26 (Cx26, GJB2) mutations, which cause the most common hereditary deafness and are responsible for >50% of nonsyndromic hearing loss. The hypothesis states that Cx26 deficiency may disrupt inner ear gap junctions and compromise sinking and recycling of expelled K(+) ions after hair cell excitation, causing accumulation of K(+)-ions in the extracellular space around hair cells producing K(+)-toxicity, which eventually induces hair cell degeneration and hearing loss...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28599846/planar-cell-polarity-dependent-and-independent-functions-in-the-emergence-of-tissue-scale-hair-follicle-patterns
#7
Maureen Cetera, Liliya Leybova, Frank W Woo, Michael Deans, Danelle Devenport
Hair follicles of the mammalian epidermis display local order and global alignment, a complex pattern instructed by the core planar cell polarity (PCP) pathway. Here we address the contributions of core PCP genes, Van Gogh-like and Frizzled, to the establishment, local refinement, and global order of embryonic and postnatal hair follicles. We find that, similar to Fz6 mutants, the disordered hair patterns of Vangl2 mutants are refined over time and eventually corrected. In both mutants, we find that tissue-level reorientation occurs through locally coordinated follicle rotation at stereotyped locations...
June 7, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28598237/homocysteine-as-a-diagnostic-and-etiopathogenic-factor-in-children-with-autism-spectrum-disorder
#8
Jan Józefczuk, Wiktoria Kasprzycka, Rafał Czarnecki, Alfreda Graczyk, Paweł Józefczuk, Krzysztof Magda, Urszula Lampart
Substantial characteristics of autism are cognitive and psychophysical disorders. Etiopathogenetic factors are thought to be responsible for development of autism in children with genetic predisposition as well as have their effect on the severity of the disorders. The main problem of early identification of patients affected by autism spectrum disorder is that there are no clear diagnostic criteria. The aim of our study was assessment of hair magnesium and serum homocysteine concentrations in children with autism...
June 9, 2017: Journal of Medicinal Food
https://www.readbyqxmd.com/read/28593779/-hirsutism
#9
M Fanta
OBJECTIVE: Overview of excessive hair growth in women, hirsutism. Although women with hirsutism typically present because of cosmetic concerns, the majority also have an underlying endocrine disorder. DESIGN: Review article. SETTING: Department of Gynecology and Obstetrics, General Faculty Hospital and 1st Faculty of Medicine of Charles Universtity, Prague. MATERIAL AND METHODS: Hirsutism is a clinical diagnosis defined by the presence of excess terminal hair growth (dark, coarse hairs) in androgen-sensitive areas...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28585775/the-roles-of-the-pd-1-pd-l1-pathway-at-immunologically-privileged-sites
#10
Li-Ling Wang, Zhi-Hui Li, Xiao-Hui Hu, Kahinho P Muyayalo, Yong-Hong Zhang, Ai-Hua Liao
The PD-1/PD-L1 pathway plays a vital role in the maintenance of peripheral tolerance, promoting the development and function of regulatory T cells, and maintaining the quiescence of autoreactive T cells. Abnormalities in this inhibitory pathway are involved in the pathogenesis of some disorders such as tumours, autoimmune diseases, pregnancy complications, and transplantation rejection. Immune privilege represents a special immunological condition, where foreign antigens can be tolerated and do not elicit an immune response...
June 6, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28585352/a-rab27a-duplication-in-several-cases-of-griscelli-syndrome-type-2-an-explanation-for-cases-lacking-a-genetic-diagnosis
#11
Virginie Grandin, Fernando E Sepulveda, Nathalie Lambert, Mofareh Al Zahrani, Eman Al Idrissi, Hamoud Al-Mousa, Fahd Almanjomi, Abdulaziz Al-Ghonaium, Murad K Habazi, Hamza A Alghamdi, Capucine Picard, Christine Bole-Feysot, Patrick Nitschke, Gael Ménasché, Geneviève de Saint Basile
Griscelli syndrome type 2 (GS2) is a rare and often fatal autosomal recessive, hyperinflammatory disorder. It is associated with hypopigmentation of the skin and the hair, resulting in the characteristic pigment accumulation and clumping in the hair shaft. Loss-of function mutations in RAB27A, resulting from point mutations, short indel or large deletions, account for all the cases reported to date. However, several GS2 cases originating from Saudi Arabia lack a genetic diagnosis. Here, we report on a new RAB27A genetic anomaly, observed in seven Saudi Arabia families that had remained negative after extensive molecular genomic DNA testing...
June 6, 2017: Human Mutation
https://www.readbyqxmd.com/read/28584374/demographic-characteristics-and-association-of-serum-vitamin-b12-ferritin-and-thyroid-function-with-premature-canities-in-indian-patients-from-an-urban-skin-clinic-of-north-india-a-retrospective-analysis-of-71-cases
#12
Sidharth Sonthalia, Adity Priya, Desmond J Tobin
BACKGROUND: The incidence of self-reported premature hair graying (PHG) seems to be on the rise. PHG has a profound impact on the patient's quality of life. It remains an incompletely understood etiology with limited and modest treatment options. AIM: The evaluation of the demographic and clinical profile of patients with premature canities, and exploration of the association of this entity with certain systemic disorders suspected to be related to its etiology...
May 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28584276/persistent-lhpa-activation-in-german-individuals-raised-in-an-overprotective-parental-behavior
#13
E Ullmann, J Licinio, A Barthel, K Petrowski, T Stalder, S R Bornstein, C Kirschbaum
Parental upbringing may affect their offspring's mental state across the entire lifespan. Overprotective parental child-rearing style may increase the disease burden in the offspring. Furthermore, this child-rearing style may also play a pathogenetic role by transmitting trauma- and stressor-related disorders (TSRD) across generations. Studies with animals have demonstrated that the mother's immediate and expansive protection of the newborn decreases the limbic-hypothalamic-pituitary-adrenal (LHPA) axis activity in the offspring...
June 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28576030/sustainable-and-smart-keratin-hydrogel-with-ph-sensitive-swelling-and-enhanced-mechanical-properties
#14
María Luz Peralta Ramos, Joaquín Antonio González, Lucas Fabian, Claudio Javier Pérez, María Emilia Villanueva, Guillermo Javier Copello
Protein based hydrogels are a very interesting type of biomaterials with many probed strengths related to their source and chemical structure. Biocompatibility and biodegradability are accompanied by affordability when it comes to low cost sources. The main keratin source is agroindustrial waste, such as feathers, horns, hooves, hair and wool. Thus, the main cost of keratin hydrogels derives from their processing. Here is presented a new strategy for the obtaining of a keratin hydrogel with enhanced mechanical properties using low cost reagents...
September 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/28575807/a-holistic-review-on-the-autoimmune-disease-vitiligo-with-emphasis-on-the-causal-factors
#15
REVIEW
Seema Patel, Abdur Rauf, Haroon Khan, Biswa Ranjan Meher, Syed Shams Ul Hassan
Vitiligo is an idiopathic systemic autoimmune disease affecting skin, hair and oral mucosa. This genetic yet acquired disease characterized by melanin loss is a cause of morbidity across all races. Though thyroid disturbance has been recognized as a key trigger of this pathology, an array of other factors plays critical role in its manifestation. Multiple hormones (corticotropin-releasing hormone, adrenocorticotropic hormone, α-melanocyte-stimulating hormone, melatonin, calcitriol, testosterone, estrogen), genes (Human leukocyte antigen (HLA), Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4), Forkhead box D3 (FOXD3), Cluster of differentiation 117 (CD117), Estrogen receptor (ESR) 1, Cyclooxygenase-2 (COX2), Vitiligo-associated protein 1 (VIT1)), and lifestyle choices (stress, diet, cosmetic products, and medications) have been suspected as drivers of this disorder...
May 30, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28555441/alopecia-areata-of-the-beard-a-review-of-the-literature
#16
REVIEW
Jessica Cervantes, Raymond M Fertig, Austin Maddy, Antonella Tosti
Alopecia areata (AA) is a T-cell mediated autoimmune disorder in which inflammatory cells attack the hair follicle, resulting in round, well-circumscribed patches of noncicatricial hair loss in normal appearing skin. AA affecting the beard area is well known and is referred to as AA of the beard (BAA) or AA barbae when involvement is limited exclusively to the beard. BAA has been documented in a select number of studies. We review the literature and discuss the clinical features, epidemiology, diagnosis, and treatment of BAA...
May 29, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28552069/tissue-engineered-skin-and-wound-healing-current-strategies-and-future-directions
#17
Nandana Bhardwaj, Dimple Chouhan, Biman B Mandal
The global volume of skin damage or injuries has major healthcare implications and, accounts for about half of the world's annual expenditure in the healthcare sector. In the last two decades, tissue-engineered skin constructs have shown great promise in the treatment of various skin-related disorders such as deep burns and wounds. The treatment methods for skin replacement and repair have evolved from utilization of autologous epidermal sheets to more complex bilayered cutaneous tissue engineered skin substitutes...
May 25, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28551734/alopecia-areata-an-update-on-treatment-options-for-children
#18
REVIEW
Lauren Peloquin, Leslie Castelo-Soccio
Pediatric alopecia areata is a spectrum of autoimmune non-scarring alopecia in which some patients lose small patches of hair from their scalp but others lose more or all of the hair from the scalp and body, including eyebrows and eyelashes. Few studies have looked at therapies for this disorder in children, so much of the data are derived from adult literature and describe off-label use of medication. Generally, topical therapies consisting of topical steroids and topical irritating compounds/contact sensitizers are used...
May 27, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28546083/mechanisms-of-tolerance-and-potential-therapeutic-interventions-in-alopecia-areata
#19
REVIEW
Gabriel Skogberg, Sonya Jackson, Annika Åstrand
This review aims to address the mechanisms of compromised immune tolerance contributing to the development and maintenance of Alopecia Areata (AA). Our goal is to also highlight future treatment opportunities and therapeutics that will safely and efficiently restore hair growth and maintain patients in remission. AA is a presumptive autoimmune disorder that coincides and genetically clusters to several other autoimmune diseases. In this review, we pay attention to the learnings from the mechanistic research and drug development in these other autoimmune conditions...
May 22, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28538897/do-you-know-this-syndrome-werner-syndrome
#20
Özlem Bilgiç
Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts, osteoporosis, type 2 diabetes mellitus, ischemic heart disease and hypogonadism. The syndrome begins to become apparent in adolescence but it is usually diagnosed in the third or fourth decade of life. Since the patients usually die by the age of 40-50 years related to malignant neoplasms or atherosclerotic complications, they should be closely followed and treated for complications...
March 2017: Anais Brasileiros de Dermatologia
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