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https://www.readbyqxmd.com/read/28526588/adam10-and-%C3%AE-secretase-regulate-sensory-regeneration-in-the-avian-vestibular-organs
#1
Mark E Warchol, Jennifer Stone, Matthew Barton, Jeffrey Ku, Rose Veile, Nicolas Daudet, Michael Lovett
The loss of sensory hair cells from the inner ear is a leading cause of hearing and balance disorders. The mammalian ear has a very limited ability to replace lost hair cells, but the inner ears of non-mammalian vertebrates can spontaneously regenerate hair cells after injury. Prior studies have shown that replacement hair cells are derived from epithelial supporting cells and that the differentiation of new hair cells is regulated by the Notch signaling pathway. The present study examined molecular influences on regeneration in the avian utricle, which has a particularly robust regenerative ability...
May 16, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28525374/the-effect-of-rapamycin-nvp-bez235-aspirin-and-metformin-on-pi3k-akt-mtor-signaling-pathway-of-pik3ca-related-overgrowth-spectrum-pros
#2
Yasuyo Suzuki, Yasushi Enokido, Kenichiro Yamada, Mie Inaba, Kumiko Kuwata, Naoki Hanada, Tsuyoshi Morishita, Seiji Mizuno, Nobuaki Wakamatsu
The phosphatidylinositol 3-kinase (PI3K)/AKT/mTOR signaling pathway is critical for cellular growth and metabolism. Recently, mosaic or segmental overgrowth, a clinical condition caused by heterozygous somatic activating mutations in PIK3CA, was established as PIK3CA-related overgrowth spectrum (PROS). In this study, we report a Japanese female diagnosed with PROS, who presented with hyperplasia of the lower extremities, macrodactyly, multiple lipomatosis, and sparse hair. Sequencing and mutant allele frequency analysis of PIK3CA from affected tissues revealed that the patient had a heterozygous mosaic mutation (c...
May 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28521190/simultaneous-determination-of-bisphenol-a-and-estrogens-in-hair-samples-by-liquid-chromatography-electrospray-tandem-mass-spectrometry
#3
Chaelin Lee, Chong Hyeak Kim, Sunghwan Kim, Sung-Hee Cho
Bisphenol A (BPA), an endocrine disrupter, is widely used to make chemicals for polycarbonate, plastics, beverage containers, epoxy resins, and cash register receipts. BPA is one of the known xenoestrogens, which have weak estrogenic activity and cause obesity, diabetes, breast cancer, and reproductive disorders. Even though the concentration level of metabolomes in hair is usually lower than that in urine and blood, there are several reasons why we chose to use hair samples. First, the sampling procedure of hairs is simple...
May 11, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28517363/cleave-but-not-leave-astrotactin-proteins-in-development-and-disease
#4
REVIEW
Hao Chang
Over the years, animal studies have identified astrotactins as important membrane proteins for glial-guided neuronal migration during central nervous system development and hair follicle polarity control during skin development. Biochemical studies have revealed intramembrane proteolysis as an important feature of astrotactins. The two fragments of astrotactins remain linked together by a disulfide bond after the proteolytic cleavage. In humans, mutations in astrotactin genes have also been linked to a wide range of diseases, including several developmental brain disorders, neurodegenerative diseases and cancer...
May 18, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28513987/dermatological-diseases-in-palliative-care-patients-a-prospective-study-of-271-patients
#5
Lenche Neloska, Katerina Damevska, Andjelka Kuzmanova, Lidija Pavleska, Milenko Kostov, Biljana Petreska Zovic
BACKGROUND: Numerous risk factors place palliative care patients at an increased risk of skin infections, dermatitis, and pressure sores. Furthermore, worsening of chronic skin disorders can be expected, as well as the development of treatment-induced and malignancy-related dermatoses. The objective of the present study was to investigate the prevalence and treatment of dermatological conditions in patients receiving hospital-based palliative care. METHODS: Two hundred seventy-one palliative patients were enrolled...
May 17, 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28511828/body-dysmorphic-disorder-in-the-dermatology-patient
#6
Caroline S Koblenzer
Body dysmorphic disorder is primarily a psychiatric disorder, in which the patient believes that some normal or very near normal aspect of his or her physical appearance is distorted or ugly. Should there be a minor abnormality, it is grossly exaggerated in the mind of the patient, causing feelings of shame and embarrassment and leading daily to spending hours at the mirror, or any reflecting surface, as the patient tries to conceal or remove the perceived abnormality through the development of ritualistic behavior...
May 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/28507374/ophthalmo-genetic-analysis-of-pakistani-patients-with-nonsyndromic-oculocutaneous-albinism-through-whole-exome-sequencing
#7
Hadia Gul, Muhammad Zeeshan Ali, Ejazullah Khan, Muhammad Zubair, Muhammad Badar, Saadullah Khan, Abdul Haleem Shah, Muzammil Ahmad Khan
Oculocutaneous albinism (OCA) is a disorder of defective melanin biosynthesis that is characterized by hypo-pigmentation of skin, hair and retinal pigment epithelium. Phenotypically, OCA patients exhibit white milky skin, whitish to golden hair and deterioration of retinal cells. Until recently, genetic studies have reported seven causative genes (TYR, TYRP1, OCA2, SLC45A2, SLC24A2, C10ORF11 and MCIR) and an uncharacterized OCA5 locus. Herein we present the medico-genetic study of three Pakistani patients inheriting autosomal recessive OCA...
May 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28492547/autophagy-is-essential-for-hearing-in-mice
#8
Chisato Fujimoto, Shinichi Iwasaki, Shinji Urata, Hideaki Morishita, Yuriko Sakamaki, Masato Fujioka, Kenji Kondo, Noboru Mizushima, Tatsuya Yamasoba
Hearing loss is the most frequent sensory disorder in humans. Auditory hair cells (HCs) are postmitotic at late-embryonic differentiation and postnatal stages, and their damage is the major cause of hearing loss. There is no measurable HC regeneration in the mammalian cochlea, and the maintenance of cell function is crucial for preservation of hearing. Here we generated mice deficient in autophagy-related 5 (Atg5), a gene essential for autophagy, in the HCs to investigate the effect of basal autophagy on hearing acuity...
May 11, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28492156/electrical-storm-or-naxos-syndrome-in-an-adult-causing-recurrent-syncope
#9
Muhammad Furrakh Maqbool, Muhammad Sajid, Ahmed Noeman
Among the rare and well-known causes of sudden cardiac death by malignant arrthymias is a condition called arrhythmogenic right ventricular cardiomyopathy. It commonly presents with right ventricular dilatation, dysfunction and ventricular tachycardia of left bundle branch morphology due to fibro-fatty infiltration of right ventricle in second to fifth decade of life, making it an unrecognized and important cause of sudden cardiac death. Two rare variants of arrhythmogenic right ventricular cardiomyopathy are Carvajal syndrome and Naxos syndrome...
April 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28492036/updates-in-the-understanding-and-treatments-of-skin-hair-disorders-in-women-of-color
#10
REVIEW
Christina N Lawson, Jasmine Hollinger, Sumit Sethi, Ife Rodney, Rashmi Sarkar, Ncoza Dlova, Valerie D Callender
Skin of color comprises a diverse and expanding population of individuals. In particular, women of color represent an increasing subset of patients who frequently seek dermatologic care. Acne, melasma, and alopecia are among the most common skin disorders seen in this patient population. Understanding the differences in the basic science of skin and hair is imperative in addressing their unique needs. Despite the paucity of conclusive data on racial and ethnic differences in skin of color, certain biologic differences do exist, which affect the disease presentations of several cutaneous disorders in pigmented skin...
March 2017: International Journal of Women's Dermatology
https://www.readbyqxmd.com/read/28491314/major-depressive-disorder-with-religious-struggle-and-completed-suicide-after-hair-transplantation
#11
Mehmet Emin Ceylan, Barış Önen Ünsalver, Alper Evrensel
OBJECTIVES: Psychological outcomes of aesthetic surgical procedures like hair transplantation are mostly positive including decreased anxiety, depression and social phobia and increased general well-being, self-efficacy and self-esteem. However, some patients may suffer from post-surgical depression and post-surgical increased suicide rates have been reported for breast augmentation patients. Difficulty adapting to the new image, unfulfilled psychological needs expected to be met by the surgery, side effects of the surgery like tissue swelling or bruising, uncontrolled pain, presence of body dysmorphic disorder and previous history of mood disorder may be some of the risk factors for post-surgical depression...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28486640/generalized-metabolic-bone-disease-and-fracture-risk-in-rothmund-thomson-syndrome
#12
Felicia Cao, Linchao Lu, Steven A Abrams, Keli M Hawthorne, Allison Tam, Weidong Jin, Brian Dawson, Roman Shypailo, Hao Liu, Brendan Lee, Sandesh Cs Nagamani, Lisa L Wang
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone disease in RTS. Furthermore, the mechanisms that result in this phenotype are largely unknown. In this report, we provide a detailed evaluation of 29 individuals with RTS with respect to their metabolic bone status including bone mineral density, calcium kinetics studies, and markers of bone remodeling...
May 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28473521/a-mixed-methods-survey-of-social-anxiety-anxiety-depression-and-wig-use-in-alopecia
#13
Kerry Montgomery, Caroline White, Andrew Thompson
OBJECTIVES: This study aimed to examine levels of social anxiety, anxiety and depression reported by people with alopecia as a result of a dermatological condition and associations with wig use. The study also sought to report on experiences of wearing wigs in social situations and the relationship with social confidence. DESIGN: A cross-sectional survey was sent by email to the Alopecia UK charity mailing list and advertised on social media. PARTICIPANTS: Inclusion criteria were a diagnosis of alopecia, aged 13 or above and sufficient English to complete the survey...
May 4, 2017: BMJ Open
https://www.readbyqxmd.com/read/28468609/a-novel-trps1-mutation-in-a-moroccan-family-with-tricho-rhino-phalangeal-syndrome-type-iii-case-report
#14
W Smaili, S Chafai Elalaoui, S Meier, M Zerkaoui, A Sefiani, K Heinimann
BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsufficiency of the TRPS1 gene. Previous genotype-phenotype studies have correlated exon 6 missense mutations with TRPS type III, a severe form of type I with pronounced, facial characteristics, short stature and brachydactyly and differing from type II by the absence of exostoses and mental retardation...
May 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28466072/-hair-in-the-bladder-an-unusual-finding
#15
Luca Cindolo, Maida Bada, Roberto Bellocci, Piergustavo De Francesco, Pietro Castellan, Francesco Berardinelli, Fabio Neri, Luigi Schips
Trichobezoar is a rare condition whereby a hairball is found in the human stomach or gastrointestinal tract, most frequently in young women, mainly in association with a psychiatric disorder. Trichobezoar cases have also been reported in the bladder and represent a rare complication of foreign bodies, called "hair nidus or hair ball," in patients with chronic catheter. Approximately 10% to 15% of patients on long-term urethral catheter or clean intermittent self-catheterization develop urinary tract stones...
2017: Journal of Endourology Case Reports
https://www.readbyqxmd.com/read/28462983/alterations-in-metabolic-patterns-have-a-key-role-in-diagnosis-and-progression-of-primrose-syndrome
#16
Alberto Casertano, Paolo Fontana, Raoul C Hennekam, Marco Tartaglia, Rita Genesio, Tina Barbaro Dieber, Lucia Ortega, Lucio Nitsch, Daniela Melis
Primrose syndrome is characterized by unusual facial features, macrocephaly, intellectual disability, enlarged, and calcified external ears, sparse body hair, and distal muscle wasting. Nine patients have been described in the literature. The disorder is due to missense mutations in ZBTB20. Here we describe one newly diagnosed 18-month-old patient and provide 10 year follow-up of an earlier reported patient, highlighting the progression and complexity of the disorder. Metabolic studies showed reduced glucose tolerance with prevalence of amino acids and fatty acids catabolism, ketogenesis, and gluconeogenesis, resulting in a Krebs cycle reversion...
April 30, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28461770/pimecrolimus-increases-the-melanogenesis-and-migration-of-melanocytes-in-vitro
#17
Ping Xu, Jie Chen, Cheng Tan, Ren-Sheng Lai, Zhong-Sheng Min
Vitiligo is an intriguing depigmentary disorder and is notoriously difficult to be treated. The ultimate goal of vitiligo treatment is to replenish the lost melanocytes by immigration from hair follicle and to restore the normal function of melanogenesis by residual melanocytes. There are two types of topical calcineurin inhibitors called tacrolimus and pimecrolimus, and are recommended as the first-line treatments in vitiligo. Although pimecrolimus is efficacious for the repigmentation of vitiligo, its intrinsic mechanisms have never been investigated in vitro...
May 2017: Korean Journal of Physiology & Pharmacology
https://www.readbyqxmd.com/read/28458476/quality-of-life-among-menopausal-women-a-community-based-study-in-a-rural-area-of-west-bengal
#18
Nabarun Karmakar, Somak Majumdar, Aparajita Dasgupta, Sulagna Das
INTRODUCTION: During menopausal transition, there is a lot of fluctuation in the hormone levels making the peri and postmenopausal women susceptible to various mental and physical disorders. There is considerably lack of awareness about the effects of the menopausal symptoms in women in India. Studies on issues relating to menopause, especially among rural women, are also lacking. With this background, the current study was carried out in a rural area of West Bengal with the objective to assess the quality of life (QOL) of peri-menopausal women...
January 2017: Journal of Mid-life Health
https://www.readbyqxmd.com/read/28448267/endogenous-thymosin-%C3%AE-4-expression-in-sacrococcygeal-pilonidal-sinus-disease-a-retrospective-immunohistochemical-analysis-of-excisional-skin-biopsy-samples
#19
Sevinc Sahin
Thymosin beta 4 (Tβ4) is a peptide that has been shown in dermal, corneal, and cardiac preclinical injury models to potentially affect tissue protection, regeneration, and repair. Sacrococcygeal pilonidal sinus disease (SPSD) is a chronic inflammatory disorder associated with a high incidence of recurrence, chronic fistulation, and a challenging postoperative surgical wound healing process. Retrospectively, an immunohistochemical analysis was conducted to evaluate endogenous Tβ4 expression in excisional skin biopsies from patients with SPSD...
April 2017: Ostomy/wound Management
https://www.readbyqxmd.com/read/28447433/serum-vitamin-d-level-is-related-to-disease-severity-in-pediatric-alopecia-areata
#20
Mehmet Unal, Gulsum Gonulalan
BACKGROUND: Alopecia areata (AA) is the most common cause of inflammatory hair loss. AA is considered an autoimmune disease and occurs with various autoimmune disorders. Recent studies have revealed connection between autoimmune diseases and vitamin D deficiency. OBJECTIVES: In this study, we investigated vitamin D status in AA and its relationship with disease severity, number of patches, and disease duration. METHODS: This study included 20 pediatric patients with AA and 34 pediatric healthy controls...
April 26, 2017: Journal of Cosmetic Dermatology
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