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https://www.readbyqxmd.com/read/29146897/gwas-for-male-pattern-baldness-identifies-71-susceptibility-loci-explaining-38-of-the-risk
#1
Nicola Pirastu, Peter K Joshi, Paul S de Vries, Marilyn C Cornelis, Paul M McKeigue, NaNa Keum, Nora Franceschini, Marco Colombo, Edward L Giovannucci, Athina Spiliopoulou, Lude Franke, Kari E North, Peter Kraft, Alanna C Morrison, Tõnu Esko, James F Wilson
Male pattern baldness (MPB) or androgenetic alopecia is one of the most common conditions affecting men, reaching a prevalence of ~50% by the age of 50; however, the known genes explain little of the heritability. Here, we present the results of a genome-wide association study including more than 70,000 men, identifying 71 independently replicated loci, of which 30 are novel. These loci explain 38% of the risk, suggesting that MPB is less genetically complex than other complex traits. We show that many of these loci contain genes that are relevant to the pathology and highlight pathways and functions underlying baldness...
November 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/29146700/phenotypic-spectrum-of-children-with-nephronophthisis-and-related-ciliopathies
#2
Jens König, Birgitta Kranz, Sabine König, Karl Peter Schlingmann, Andrea Titieni, Burkhard Tönshoff, Sandra Habbig, Lars Pape, Karsten Häffner, Matthias Hansen, Anja Büscher, Martin Bald, Heiko Billing, Raphael Schild, Ulrike Walden, Tobias Hampel, Hagen Staude, Magdalena Riedl, Norbert Gretz, Martin Lablans, Carsten Bergmann, Friedhelm Hildebrandt, Heymut Omran, Martin Konrad
BACKGROUND AND OBJECTIVES: Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes (NPHP1 to -20) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on extrarenal organ involvement and the long-term development of ESRD. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We established an online-based registry (www...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29139305/development-of-optimized-self-nanoemulsifying-lyophilized-tablets-snelts-to-improve-finasteride-clinical-pharmacokinetic-behavior
#3
Tarek A Ahmed, Khalid M El-Say, Khaled M Hosny, Bader M Aljaeid
OBJECTIVE: Preparation of an optimized finasteride (FSD) lyophilized tablets loaded with self-nanoemulsifying drug delivery system (SNEDDS). SIGNIFICANCE: Enhance FSD bioavailability in male pattern baldness and benign prostatic hyperplasia. METHODS: Two-step optimization was implemented to achieve the study goals. First; mixture design was used to develop an optimized SNEDDS through which the effect of cosurfactant number of carbon atoms on SNEDDS particle size and thermodynamic stability has been tested...
November 15, 2017: Drug Development and Industrial Pharmacy
https://www.readbyqxmd.com/read/29139043/early-onset-baldness-and-the-risk-of-aggressive-prostate-cancer-findings-from-a-case-control-study
#4
Nathan P Papa, Robert J MacInnis, Dallas R English, Damien Bolton, Ian D Davis, Nathan Lawrentschuk, Jeremy L Millar, Gianluca Severi, John L Hopper, Graham G Giles
PURPOSE: We aimed to evaluate the associations between androgenetic alopecia at a young age and subsequent development of aggressive prostate cancer (PC). METHODS: Using a case-control design with self-administered questionnaire, we evaluated the association between aggressive PC and very early-onset balding at age 20, and early-onset balding at age 40 years in 1,941 men. Cases were men with high-grade and/or advanced stage cancer and controls were clinic based men who had undergone biopsy and were found to be histologically cancer negative...
November 14, 2017: Cancer Causes & Control: CCC
https://www.readbyqxmd.com/read/29136296/scalp-melanoma-after-anti-hair-loss-mesotherapy
#5
M Arenbergerova, P Arenberger, S Gkalpakiotis, R A Dahmen, E Sticova, A Fialova
Scalp melanoma comprises 3-5% of all cutaneous melanomas. The median age of the patients is 53 years and males are more frequently affected. The scalp melanomas tend to have nodular histology with a higher mitotic rate (>3/mm) and poorer prognosis (1). The risk factors for development of this tumor are still not defined but UV light and baldness may play a significant role (2-4). Mesotherapy is a non-surgical procedure currently being used to combat hair loss and promote hair growth. Usually a mixture of vitamins, minerals, growth factors, DHT blockers and/or stem cells extracts is injected into the dermal layer of skin (5,6)...
November 14, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29127953/bridging-existing-governance-gaps-five-evidence-based-actions-that-boards-can-take-to-pursue-high-quality-care
#6
Sandra G Leggat, Cathy Balding
Objective To explore the impact of the organisational quality systems on quality of care in Victorian health services.Methods During 2015 a total of 55 focus groups were conducted with more than 350 managers, clinical staff and board members in eight Victorian health services to explore the effectiveness of health service quality systems. A review of the quality and safety goals and strategies outlined in the strategic and operating plans of the participating health services was also undertaken.Results This paper focuses on the data related to the leadership role of health service boards in ensuring safe, high-quality care...
November 13, 2017: Australian Health Review: a Publication of the Australian Hospital Association
https://www.readbyqxmd.com/read/29123920/a-prospective-study-comparing-whole-body-skeletal-x-ray-survey-with-18f-fdg-pet-ct-18f-naf-pet-ct-and-whole-body-mri-in-the-detection-of-bone-lesions-in-multiple-myeloma-patients
#7
Eva Dyrberg, Helle W Hendel, Gina Al-Farra, Lone Balding, Vibeke B Løgager, Claus Madsen, Henrik S Thomsen
Background: For decades, the most widely used imaging technique for myeloma bone lesions has been a whole-body skeletal X-ray survey (WBXR), but newer promising imaging techniques are evolving. Purpose: To compare WBXR with the advanced imaging techniques 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT), 18F-sodium fluoride (NaF) PET/CT and whole-body magnetic resonance imaging (WB-MRI) in the detection of myeloma bone lesions...
October 2017: Acta Radiologica Open
https://www.readbyqxmd.com/read/29123134/divergent-proliferation-patterns-of-distinct-human-hair-follicle-epithelial-progenitor-niches-in-situ-and-their-differential-responsiveness-to-prostaglandin-d2
#8
Talveen S Purba, Michael Peake, Bessam Farjo, Nilofer Farjo, Ranjit K Bhogal, Gail Jenkins, Ralf Paus
Human scalp hair follicles (hHF) harbour several epithelial stem (eHFSC) and progenitor cell sub-populations organised into spatially distinct niches. However, the constitutive cell cycle activity of these niches remains to be characterized in situ. Therefore, the current study has studied these characteristics of keratin 15+ (K15), CD200+ or CD34+ cells within anagen VI hHFs by immunohistomorphometry, using Ki-67 and 5-ethynyl-2'-deoxyuridine (EdU). We quantitatively demonstrate in situ the relative cell cycle inactivity of the CD200+/K15+ bulge compared to other non-bulge CD34+ and K15+ progenitor compartments and found that in each recognized eHFSC/progenitor niche, proliferation associates negatively with eHFSC-marker expression...
November 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29114032/alcohol-consumption-smoking-and-development-of-visible-age-related-signs-a-prospective-cohort-study
#9
Anne L Schou, Marie-Louise Mølbak, Peter Schnor, Morten Grønbæk, Janne S Tolstrup
BACKGROUND: Visible age-related signs indicate biological age, as individuals that appear old for their age are more likely to be at poor health, compared with people that appear their actual age. The aim of this study was to investigate whether alcohol and smoking are associated with four visible age-related signs (arcus corneae, xanthelasmata, earlobe crease and male pattern baldness). METHODS: We used information from 11 613 individuals in the Copenhagen City Heart Study (1976-2003)...
December 2017: Journal of Epidemiology and Community Health
https://www.readbyqxmd.com/read/29099833/how-convincing-is-a-matching-y-chromosome-profile
#10
Mikkel M Andersen, David J Balding
The introduction of forensic autosomal DNA profiles was controversial, but the problems were successfully addressed, and DNA profiling has gone on to revolutionise forensic science. Y-chromosome profiles are valuable when there is a mixture of male-source and female-source DNA, and interest centres on the identity of the male source(s) of the DNA. The problem of evaluating evidential weight is even more challenging for Y profiles than for autosomal profiles. Numerous approaches have been proposed, but they fail to deal adequately with the fact that men with matching Y-profiles are related in extended patrilineal clans, many of which may not be represented in available databases...
November 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29093128/visual-diagnosis-the-case-of-the-balding-preschooler
#11
REVIEW
Somya Abubucker, Bernard A Cohen
No abstract text is available yet for this article.
November 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/29091937/phenome-wide-association-study-using-research-participants-self-reported-data-provides-insight-into-the-th17-and-il-17-pathway
#12
Margaret G Ehm, Jennifer L Aponte, Mathias N Chiano, Laura M Yerges-Armstrong, Toby Johnson, Jonathan N Barker, Suzanne F Cook, Akanksha Gupta, David A Hinds, Li Li, Matthew R Nelson, Michael A Simpson, Chao Tian, Linda C McCarthy, Deepak K Rajpal, Dawn M Waterworth
A phenome-wide association study of variants in genes in the Th17 and IL-17 pathway was performed using self-reported phenotypes and genetic data from 521,000 research participants of 23andMe. Results replicated known associations with similar effect sizes for autoimmune traits illustrating self-reported traits can be a surrogate for clinically assessed conditions. Novel associations controlling for a false discovery rate of 5% included the association of the variant encoding p.Ile684Ser in TYK2 with increased risk of tonsillectomy, strep throat occurrences and teen acne, the variant encoding p...
2017: PloS One
https://www.readbyqxmd.com/read/29081823/biological-and-phytochemical-investigations-on-caesalpinia-benthamiana-a-plant-traditionally-used-as-antimalarial-in-guinea
#13
Jean Loua, Mohamed Sahar Traore, Aissata Camara, Mamadou Aliou Balde, Louis Maes, Luc Pieters, Aliou Mamadou Balde
Caesalpinia benthamiana is widely used as antimalarial in Guinean traditional medicine. Leaf extracts of the plant were tested for their in vitro antiprotozoal activity against Trypanosoma brucei brucei and T. cruzi and the chloroquine-sensitive Ghana strain of Plasmodium falciparum along with their cytotoxicity on MRC-5 cells. The methanolic extract showed the strongest antiprotozoal activity against P. falciparum (IC50 4 μg/ml), a good activity against T. brucei (IC50 13 μg/ml), and a moderate activity against T...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/29078889/propensity-score-analysis-of-recurrence-for-neutrophil-to-lymphocyte-ratio-in-colorectal-cancer
#14
Alpha I Balde, Suzhen Fang, Linyun He, Zhai Cai, Shuai Han, Weiwei Wang, Zhou Li, Liang Kang
BACKGROUND: The perioperative serum neutrophil-to-lymphocyte ratio (NLR) has been proposed to predict adverse prognosis in colorectal cancer (CRC). However, its interpretation remains unclear. The present study aimed to clarify the prognostic value of NLR in predicting survival among CRC patients. MATERIALS AND METHODS: A single-centre, retrospective, propensity score-matched study of adenocarcinoma patients who underwent D3 lymphadenectomy via laparoscopic or open surgery between 2010 and 2016 was conducted...
November 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/29075732/smectic-monolayer-confined-on-a-sphere-topology-at-the-particle-scale
#15
Elshad Allahyarov, Axel Voigt, Hartmut Löwen
The impact of topology on the structure of a smectic monolayer confined to a sphere is explored by particle-resolved computer simulations of hard rods. The orientations of the particles are tangential to the sphere and either free or restricted to a prescribed director field with a latitude or longitude orderings. Depending on the imprinted topology, a wealth of different states are found including equatorial smectic with isotropic poles, equatorial smectic with empty poles, a broken egg-shell like modulated smectic, a capped nematic with equatorial bald patches, equatorial nematic with empty poles, and a situation with 4 or 8 half-strength topological defects...
November 15, 2017: Soft Matter
https://www.readbyqxmd.com/read/29066868/protective-effect-of-da-9401-in-finasteride-induced-apoptosis-in-rat-testis-inositol-requiring-kinase-1-and-c-jun-n-terminal-kinase-pathway
#16
Kiran Kumar Soni, Yu Seob Shin, Bo Ram Choi, Keshab Kumar Karna, Hye Kyung Kim, Sung Won Lee, Chul Young Kim, Jong Kwan Park
Finasteride is used to treat male pattern baldness and benign prostatic hyperplasia. This study investigated the toxicity of finasteride and recovery by DA-9401 using Sprague Dawley (SD) rats. Forty adult male SD rats were assigned to four groups: control (CTR), finasteride 1 mg/kg/day (F), finasteride 1 mg/kg + DA-9401 100 mg/kg/day (F + DA 100) and finasteride 1 mg/kg + DA-9401 200 mg/kg/day (F + DA 200). Treatments were by oral delivery once daily for 90 consecutive days. The gross anatomical parameters assessed included: genital organ weight; vas deferens sperm count and sperm motility; testosterone, dihydrotestosterone (DHT) and malondialdehyde levels; and histological and terminal deoxynucleotidyl transferase enzyme mediated dUTP nick-end labeling (TUNEL) staining of testis for spermatogenic cell density, Johnsen's score and apoptosis...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/29064114/invasive-squamous-cell-carcinoma-comparison-of-differentiation-grade-and-tumour-depth-by-anatomical-site-in-1666-tumours
#17
J H Pyne, E Barr, E Myint, S P Clark, M David, R Na
BACKGROUND: Invasive squamous cell carcinomas (SCCs) presents with different grades of differentiation and depths of invasion. AIM: To compare the grade of differentiation, tumour diameter and tumour depth by anatomical site in invasive SCC. METHODS: Retrospective clinical and histopathological data on consecutive cases of SCC came from a clinic in Sydney, Australia were assessed. A multinomial logistic regression model was applied to compare grades of differentiation by age, sex, anatomical sites, and histological tumour maximum diameter and depth...
October 24, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29058690/advillin-acts-upstream-of-phospholipase-c-%C3%AF%C2%B51-in-steroid-resistant-nephrotic-syndrome
#18
Jia Rao, Shazia Ashraf, Weizhen Tan, Amelie T van der Ven, Heon Yung Gee, Daniela A Braun, Krisztina Fehér, Sudeep P George, Amin Esmaeilniakooshkghazi, Won-Il Choi, Tilman Jobst-Schwan, Ronen Schneider, Johanna Magdalena Schmidt, Eugen Widmeier, Jillian K Warejko, Tobias Hermle, David Schapiro, Svjetlana Lovric, Shirlee Shril, Ankana Daga, Ahmet Nayir, Mohan Shenoy, Yincent Tse, Martin Bald, Udo Helmchen, Sevgi Mir, Afig Berdeli, Jameela A Kari, Sherif El Desoky, Neveen A Soliman, Arvind Bagga, Shrikant Mane, Mohamad A Jairajpuri, Richard P Lifton, Seema Khurana, Jose C Martins, Friedhelm Hildebrandt
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease. Here, we identified recessive mutations in the gene encoding the actin-binding protein advillin (AVIL) in 3 unrelated families with SRNS. While all AVIL mutations resulted in a marked loss of its actin-bundling ability, truncation of AVIL also disrupted colocalization with F-actin, thereby leading to impaired actin binding and severing. Additionally, AVIL colocalized and interacted with the phospholipase enzyme PLCE1 and with the ARP2/3 actin-modulating complex...
October 23, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29056410/the-lancet-commission-on-pollution-and-health
#19
REVIEW
Philip J Landrigan, Richard Fuller, Nereus J R Acosta, Olusoji Adeyi, Robert Arnold, Niladri Nil Basu, Abdoulaye Bibi Baldé, Roberto Bertollini, Stephan Bose-O'Reilly, Jo Ivey Boufford, Patrick N Breysse, Thomas Chiles, Chulabhorn Mahidol, Awa M Coll-Seck, Maureen L Cropper, Julius Fobil, Valentin Fuster, Michael Greenstone, Andy Haines, David Hanrahan, David Hunter, Mukesh Khare, Alan Krupnick, Bruce Lanphear, Bindu Lohani, Keith Martin, Karen V Mathiasen, Maureen A McTeer, Christopher J L Murray, Johanita D Ndahimananjara, Frederica Perera, Janez Potočnik, Alexander S Preker, Jairam Ramesh, Johan Rockström, Carlos Salinas, Leona D Samson, Karti Sandilya, Peter D Sly, Kirk R Smith, Achim Steiner, Richard B Stewart, William A Suk, Onno C P van Schayck, Gautam N Yadama, Kandeh Yumkella, Ma Zhong
No abstract text is available yet for this article.
October 19, 2017: Lancet
https://www.readbyqxmd.com/read/29054497/association-between-male-pattern-baldness-and-prostate-disease-a-meta-analysis
#20
Tao Jin, Tao Wu, Zhumei Luo, Xi Duan, Shi Deng, Yin Tang
BACKGROUND: Male pattern baldness (MPB) has been associated with an increased risk of prostate cancer (PC) as well as benign prostatic hyperplasia (BPH). We performed a meta-analysis to quantitatively determine the level of risk of PC and BPH in individuals with baldness. METHODS: A systematic literature search was conducted using several databases. We calculated pooled odds ratios (OR) and 95% CIs. RESULTS: In total, 17 studies comprising 68,448 participants were eligible for the meta-analysis and showed that MPB is associated with an increased risk of aggressive PC (OR = 1...
October 17, 2017: Urologic Oncology
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