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https://www.readbyqxmd.com/read/28098826/hair-growth-promoting-and-anticancer-effects-of-p21-activated-kinase-1-pak1-inhibitors-isolated-from-different-parts-of-alpinia-zerumbet
#1
Nozomi Taira, Binh Cao Quan Nguyen, Shinkichi Tawata
PAK1 (p21-activated kinase 1) is an emerging target for the treatment of hair loss (alopecia) and cancer; therefore, the search for PAK1 blockers to treat these PAK1-dependent disorders has received much attention. In this study, we evaluated the anti-alopecia and anticancer effects of PAK1 inhibitors isolated from Alpinia zerumbet (alpinia) in cell culture. The bioactive compounds isolated from alpinia were found to markedly promote hair cell growth. Kaempferol-3-O-β-d-glucuronide (KOG) and labdadiene, two of the isolated compounds, increased the proliferation of human follicle dermal papilla cells by approximately 117%-180% and 132%-226%, respectively, at 10-100 μM...
January 14, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28098377/quantitative-image-analysis-for-hereditary-hair-disorders
#2
Y Ramot
No abstract text is available yet for this article.
January 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28093303/chlorogenic-acid-rescues-sensorineural-auditory-function-in-a-diabetic-animal-model
#3
Bin Na Hong, Youn Hee Nam, Sang Ho Woo, Tong Ho Kang
Recently, many studies have reported that sensorineural hearing impairment related to neurological disorders may be caused by diabetes mellitus. However, to date, only a small number of studies have investigated the treatment of sensorineural hearing impairment. In the present study, the effects of chlorogenic acid on diabetic auditory pathway impairment were evaluated by neuro-electrical physiological measurements and morphological investigations. We have shown that CA efficiently prevents the progression of auditory pathway dysfunction caused by DM using auditory brainstem responses and auditory middle latency responses in mice...
January 13, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28089576/conditional-deletion-of-pejvakin-in-adult-outer-hair-cells-causes-progressive-hearing-loss-in-mice
#4
Suzan L Harris, Marcin Kazmierczak, Tina Pangršič, Prahar Shah, Nadiya Chuchvara, Alonso Barrantes-Freer, Tobias Moser, Martin Schwander
Mutations in the Pejvakin (Pjvk) gene cause autosomal recessive hearing loss DFNB59 with audiological features of auditory neuropathy spectrum disorder (ANSD) or cochlear dysfunction. The precise mechanisms underlying the variable clinical phenotypes of DFNB59 remain unclear. Here, we demonstrate that mice with conditional ablation of the Pjvk gene in all sensory hair cells or only in outer hair cells (OHCs) show similar auditory phenotypes with early-onset profound hearing loss. By contrast, loss of Pjvk in adult OHCs causes a slowly progressive hearing loss associated with OHC degeneration and delayed loss of inner hair cells (IHCs), indicating a primary role for pejvakin in regulating OHC function and survival...
January 9, 2017: Neuroscience
https://www.readbyqxmd.com/read/28086997/enamel-renal-syndrome-in-2-patients-with-a-mutation-in-fam20-a-and-atypical-hypertrichosis-and-hearing-loss-phenotypes
#5
Sabina Pena B Pêgo, Ricardo D Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Maria Teresa Auricchio, Luis Antônio Santos, Breno Rocha, Hercílio Martelli-Júnior
Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis. They also exhibited 2 undescribed clinical features, hypertrichosis and hearing loss. Alterations in genes frequently associated with nonsyndromic hearing loss in the Brazilian population, including connexin 26 (GJB2), connexin 30 (GJB6) and mitochondrial 12 S rRNA (m...
February 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28069640/sequence-variation-in-ppp1r13l-results-in-a-novel-form-of-cardio-cutaneous-syndrome
#6
Tzipora C Falik-Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter-Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan-Hersh, Eugene Vlodavsky, Liat Appl-Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman-Deutsch, Orly Avni
Dilated cardiomyopathy (DCM) is a life-threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4-30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3. A homozygous sequence variation creating a premature stop codon at PPP1R13L encoding the iASPP protein was identified in three infants and in the mother of the other two. Patients' fibroblasts and PPP1R13L-knocked down human fibroblasts presented higher expression levels of pro-inflammatory cytokine genes in response to lipopolysaccharide, as well as Ppp1r13l-knocked down murine cardiomyocytes and hearts of Ppp1r13l-deficient mice...
January 9, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28067412/broadening-the-phenotypic-spectrum-of-pop1-skeletal-dysplasias-identification-of-pop1-mutations-in-a-mild-and-severe-skeletal-dysplasia
#7
Jimena Barraza-García, Carlos I Rivera-Pedroza, Alfonso Hisado-Oliva, Alberta Belinchón-Martínez, Lucia Sentchordi-Montané, Emma L Duncan, Graeme R Clark, Angela Del Pozo, Kristina Ibáñez-Garikano, Amaka Offiah, Pablo Prieto-Matos, Valerie Cormier-Daire, Karen E Heath
POP1 is a large protein common to the RNase-MRP and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the assembly or stability of both complexes. Numerous RMRP mutations have been reported in individuals with cartilage hair hypoplasia (CHH) but, to date, only three POP1 mutations have been described in two families with features similar to anauxetic dysplasia (AD). We present two further individuals, one with severe short stature and a relatively mild skeletal dysplasia and another in whom AD was suspected...
January 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28064407/hair-cortisol-as-a-marker-of-hypothalamic-pituitary-adrenal-axis-activity-in-female-patients-with-major-depressive-disorder
#8
Ksenia Pochigaeva, Tatiana Druzhkova, Alexander Yakovlev, Mikhail Onufriev, Maria Grishkina, Aleksey Chepelev, Alla Guekht, Natalia Gulyaeva
Hair cortisol is regarded as a promising marker of hypothalamic-pituitary-adrenal axis (HPAA) activity alterations due to stress, somatic and mental health conditions. Hair cortisol was previously reported to be elevated in patients with depression, however the data related to remission and recurrent depressive episodes are different. In this study, levels of hair cortisol were assessed in female patients with major depressive disorder (MDD) and the validity of hair cortisol as a marker of HPAA activity in this condition was evaluated...
January 7, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28063525/the-impact-of-skin-diseases-on-quality-of-life-a-multicenter-study
#9
G Sanclemente, C Burgos, J Nova, F Hernández, C González, M I Reyes, N Córdoba, Á Arévalo, E Meléndez, J Colmenares, S Ariza, G Hernández
INTRODUCTION: To date, no formal study has been published regarding how Colombian patients with skin disorders could be affected according to their perception of disease. OBJECTIVE: To determine the impact in quality of life of skin diseases in a Colombian population. METHODS: This multicenter study included patients with skin disease from almost the whole country. Individuals >18 years old; of any gender; with any skin disease and who signed informed consent, were included...
January 4, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28056409/efficacy-of-metformin-in-human-single-hair-fibre-by-atr-ftir-spectroscopy-coupled-with-statistical-analysis
#10
Kamatchi Sundaramoorthi, Gunasekaran Sethu, Sailatha Ethirajulu, Pavithra Raja Marthandam
Diabetes mellitus is chronic metabolic disorder, resulting from insulin deficiency, characterized by hyperglycemia altered metabolism of carbohydrates, proteins and lipids and an increased risk of vascular complications. There are different classes of anti-diabetic drugs in allopathic system of medicine. Metformin (dimethyl biguanide) is a blood glucose lowering agent used in the treatment of non-insulin dependent diabetes mellitus. Almost in all diseases the blood serves as the primary metabolic transport system in the body...
December 27, 2016: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28056000/adverse-health-effects-associated-with-living-in-a-former-methamphetamine-drug-laboratory-victoria-australia-2015
#11
Jackie Wright, Michaela E Kenneally, John W Edwards, G Stewart Walker
The manufacture of methamphetamine in clandestine drug laboratories occurs in various locations, including residential houses and apartments. Unlike the controlled manufacture of chemicals and drugs, clandestine manufacture results in the uncontrolled storage, use, generation, and disposal of a wide range of chemicals and the deposit of methamphetamine drug residues on indoor surfaces (1). These residues have been found at high levels on porous and nonporous surfaces and have been shown to persist for months to years (1)...
January 6, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28029168/trends-in-regenerative-medicine-repigmentation-in-vitiligo-through-melanocyte-stem-cell-mobilization
#12
REVIEW
Stanca A Birlea, Gertrude-E Costin, Dennis R Roop, David A Norris
Vitiligo is the most frequent human pigmentary disorder, characterized by progressive autoimmune destruction of mature epidermal melanocytes. Of the current treatments offering partial and temporary relief, ultraviolet (UV) light is the most effective, coordinating an intricate network of keratinocyte and melanocyte factors that control numerous cellular and molecular signaling pathways. This UV-activated process is a classic example of regenerative medicine, inducing functional melanocyte stem cell populations in the hair follicle to divide, migrate, and differentiate into mature melanocytes that regenerate the epidermis through a complex process involving melanocytes and other cell lineages in the skin...
December 28, 2016: Medicinal Research Reviews
https://www.readbyqxmd.com/read/28027214/ibd-like-features-in-syndromic-diarrhea-trichohepatoenteric-syndrome
#13
Veronica B Busoni, Julie Lemale, Beatrice Dubern, Fernando Frangi, Patrice Bourgeois, Marina Orsi, Catherine Badens, Alexandre Fabre
BACKGROUND: Very early onset inflammatory bowel disease (VEOIBD) (inflammatory bowel disease [IBD] before 6 years of age) may manifest as a monogenic disease affecting the gastrointestinal tract. Syndromic diarrhea/trichohepatoenteric syndrome (SD/THE), a rare disorder caused by alteration of a complex involved in RNA degradation, has been reported to present with some degree of colitis and in some cases an IBD-like presentation. METHODS: We reviewed clinical and biological data of 4 previously published cases and added detailed data of 2 new cases of SD/THE with an IBD-like presentation...
January 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28024126/janus-kinase-jak-inhibitors-for-the-treatment-of-skin-and-hair-disorders-a-review-of-literature
#14
Aniseh Samadi, Saman Ahmad Nasrollahi, Ashkan Hashemi, Mansour Nassiri-Kashani, Alireza Firooz
Janus kinase family (JAKs) has recently attracted the attention of many researchers, and several JAK inhibitor drugs have been developed targeting different members of the JAK family. Tofacitinib and ruxolitinib are U.S. FDA approved drugs in this family approved for rheumatoid arthritis and myeloproliferative diseases, respectively. Dysregulation of JAK/STAT pathway is also involved in many skin diseases, specifically inflammatory disorders. We overview the JAK/STAT signaling pathway and its involvement in skin diseases...
December 26, 2016: Journal of Dermatological Treatment
https://www.readbyqxmd.com/read/28011715/generation-of-hoxc13-knockout-pigs-recapitulates-human-ectodermal-dysplasia-9
#15
Kai Han, Liuping Liang, Li Li, Zhen Ouyang, Bentian Zhao, Qi Wang, Zhaoming Liu, Yu Zhao, Xiaoshuai Ren, Fei Jiang, Chengdan Lai, Kepin Wang, Sen Yan, Liang Huang, Lin Guo, Kang Zeng, Liangxue Lai, Nana Fan
Atrichia and sparse hair phenotype cause distress to many patients. Ectodermal dysplasia-9 (ED-9) is a congenital condition characterized by hypotrichosis and nail dystrophy without other disorders, and Hoxc13 is a pathogenic gene for ED-9. However, mice carrying Hoxc13 mutation present several other serious disorders, such as skeletal defects, progressive weight loss and low viability. Mouse models cannot faithfully mimic human ED-9. In this study, we generated an ED-9 pig model via Hoxc13 gene knockout through single-stranded oligonucleotides (c...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28008606/derivation-of-marker-gene-signatures-from-human-skin-and-their-use-in-the-interpretation-trancriptional-changes-associated-with-dermatological-disorders
#16
Barbara Bo-Ju Shih, Ajit Johnson Nirmal, Denis John Headon, Arne Nalpon Akbar, Neil Andrew Mabbott, Tom Charles Freeman
Numerous studies have explored the altered transcriptional landscape associated with skin diseases to understand the nature of these disorders. However, data interpretation represents a significant challenge due to a lack of good maker sets for many of the specialised cell types that make up this tissue, whose composition may fundamentally alter during disease. Here we have sought to derive expression signatures that define the various cell types and structures that make up human skin, and demonstrate how they can be used to aid the interpretation of transcriptomic data derived from this organ...
December 23, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27991862/fluorescent-aminoglycosides-reveal-intracellular-trafficking-routes-in-mechanosensory-hair-cells
#17
Dale W Hailey, Robert Esterberg, Tor H Linbo, Edwin W Rubel, David W Raible
Aminoglycosides (AGs) are broad-spectrum antibiotics that are associated with kidney damage, balance disorders, and permanent hearing loss. This damage occurs primarily by killing of proximal tubule kidney cells and mechanosensory hair cells, though the mechanisms underlying cell death are not clear. Imaging molecules of interest in living cells can elucidate how molecules enter cells, traverse intracellular compartments, and interact with sites of activity. Here, we have imaged fluorescently labeled AGs in live zebrafish mechanosensory hair cells...
December 19, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27990386/griscelli-syndrome-type-3
#18
Bela J Shah, Ashish K Jagati, Nilesh K Katrodiya, Sonal M Patel
Griscelli syndrome (GS) is a rare autosomal recessive multisystem disorder of pigmentary dilution of skin, silver gray hair, variable immunodeficiency, neurological impairment, and abnormal accumulation of melanosomes in melanocytes. GS type 3 is characterized by hypomelanosis with no immunological and neurological manifestation. Prognosis is very good in type 3 GS and usually require no active intervention, as opposed to type 1 and 2 where early diagnosis and treatment plays a crucial role in patient's survival...
November 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27986801/decreased-telomere-length-in-children-with-cartilage-hair-hypoplasia
#19
Svetlana Kostjukovits, Sofie Degerman, Minna Pekkinen, Paula Klemetti, Mattias Landfors, Göran Roos, Mervi Taskinen, Outi Mäkitie
BACKGROUND: Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia caused by RMRP (RNA component of mitochondrial RNA processing endoribonuclease) gene mutations. Manifestations include short stature, variable immunodeficiency, anaemia and increased risk of malignancies, all of which have been described also in telomere biology disorders. RMRP interacts with the telomerase RT (TERT) subunit, but the influence of RMRP mutations on telomere length is unknown. We measured relative telomere length (RTL) in patients with CHH, their first-degree relatives and healthy controls and correlated RTL with clinical and laboratory features...
December 16, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27978851/a-rare-case-of-a-double-phytobezoar-causing-gastric-and-jejunum-obstruction-in-an-adult-man-a-case-report
#20
S Occhionorelli, M Zese, S Targa, L Cappellari, R Stano, G Vasquez
BACKGROUND: Bezoars are an uncommon cause of mechanical intestinal occlusion. There are four different kinds of bezoars: phytobezoars, made of vegetables and fibers; trichobezoars, resulting from the ingestion of hair and frequently an expression of psychiatric disorders; lactobezoars, which are formed of milk curd; and pharmacobezoars, caused by drugs and medications. Symptoms are classically indistinguishable from one another and from more common causes of intestinal occlusion, so it can be difficult to establish a correct diagnosis in order to apply the correct treatment...
December 15, 2016: Journal of Medical Case Reports
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