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https://www.readbyqxmd.com/read/28878338/the-clinical-characteristics-of-asian-patients-with-classical-type-hutchinson-gilford-progeria-syndrome
#1
Nanae Sato-Kawano, Minoru Takemoto, Emiko Okabe, Koutaro Yokote, Muneaki Matsuo, Rika Kosaki, Kenji Ihara
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder that shows a characteristic progeria phenotype. We conducted a questionnaire survey of 1173 tertiary hospitals in Japan and reviewed the academic reports, to identify the characteristics of Asian patients with classical HGPS. As a result, four Japanese patients were identified; this was estimated to account for approximately two-third of the prevalence in Japan. Three Asian patients who had definitively been diagnosed with classical HGPS were identified in the literature; in total, the clinical characteristics of seven patients were evaluated...
September 7, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28876576/rapunzel-syndrome-african-variations-on-a-european-fairytale
#2
J Plaskett, G Chinnery, D Thomson, B Dedekind, E Jonas, S Thomson
BACKGROUND: Trichobezoars are intraluminal accretions of ingested hair. Rapunzel syndrome is a rare and extreme presentation with extension down through into the small intestine. Most frequently reported in children and psychiatric patients, we report on an African series of five patients. METHOD: Five patients presenting with trichobezoars were retrospectively reviewed and analysed with regard to patient background, demographics, clinical presentation, diagnosis, surgical management and complications...
September 2017: South African Journal of Surgery. Suid-Afrikaanse Tydskrif Vir Chirurgie
https://www.readbyqxmd.com/read/28871934/diffuse-palmoplantar-keratoderma-onychodystrophy-universal-hypotrichosis-and-cysts
#3
Tasleem Arif, Syed Suhail Amin, Mohammad Adil, Mohd Mohtashim
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28851436/postmenopausal-mild-hirsutism-and-hyperandrogenemia-due-to-granulosa-cell-tumor-of-the-ovary-a-case-report
#4
Mulat Adefris, Elfalet Fekadu
BACKGROUND: Among classes of ovarian tumor, granulosa cell tumors are the least common. In approximately 10% of cases of granulosa cell tumor, androgen will be secreted which will present with hirsutism and hyperandrogenemia. We describe a woman with ovarian granulosa cell tumor who presented with hirsutism. CASE PRESENTATION: A 50-year-old woman of Amhara ethnicity, para III, abortion I (induced), presented with excessive hair on her face and lower abdomen of 4 years' duration which affected her quality of life...
August 30, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28839388/a-study-on-scalp-hair-health-and-hair-care-practices-among-malaysian-medical-students
#5
B Satheesha Nayak, Chua Yuet Ann, Azeldeen Bin Azhar, Emily Chan Su Ling, Wong Hui Yen, P Ashwini Aithal
INTRODUCTION: Scalp care is essential because it determines the health and condition of the hair and prevents the diseases of scalp and hair. The objectives of our study were to correlate race and hair types, to determine the awareness of hair care among Malaysian medical students, and to distinguish the factors that affect the health of hair and scalp. METHODOLOGY: It was a cross-sectional study wherein validated questionnaires were given to 240 medical undergraduate students who belonged to three ethnic races of Malaysia, i...
April 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/28822238/the-environmental-injustice-of-beauty-framing-chemical%C3%A2-exposures-from-beauty-products-as-a-health%C3%A2-disparities-concern
#6
Ami R Zota, Bhavna Shamasunder
The obstetrics-gynecology community has issued a call to action to prevent toxic environmental chemical exposures and their threats to healthy human reproduction. Recent committee opinions recognize that vulnerable and underserved women may be impacted disproportionately by environmental chemical exposures and recommend that reproductive health professionals champion policies that secure environmental justice. Beauty product use is an understudied source of environmental chemical exposures. Beauty products can include reproductive and developmental toxicants such as phthalates and heavy metals; however, disclosure requirements are limited and inconsistent...
August 16, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28692446/ethnicity-and-arterial-stiffness-in-children-and-adolescents-from-a-brazilian-population
#7
Divanei Zaniqueli, Rafael O Alvim, Sara G Luiz, Polyana R Oliosa, Roberto de Sá Cunha, José G Mill
BACKGROUND: Increased stiffness of large arteries is an important determinant of cardiovascular disease risk. Higher values of arterial stiffness measured by carotid-femoral pulse wave velocity (cf-PWV) have been measured in adult African-Americans compared with whites. Studies assessing ethnic differences in cf-PWV among children and adolescents are scarce. This study sought to evaluate the association between ethnicity and cf-PWV in Brazilian children and adolescents. METHODS: Seven hundred and seventy-one children and adolescents (211 blacks and 560 nonblacks, 11...
July 7, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28690485/a-novel-pathogenic-variant-in-the-mitf-gene-segregating-with-a-unique-spectrum-of-ocular-findings-in-an-extended-iranian-waardenburg-syndrome-kindred
#8
Nazanin Jalilian, Mohammad A Tabatabaiefar, Tayyeb Bahrami, Golaleh Karbasi, Mohammad H Bahramian, Abdolrahman Salimpoor, Mohammad R Noori-Daloii
Waardenburg syndrome (WS) is a rare genetic disorder characterized by abnormal pigmentation of the hair, skin, and iris as well as sensorineural hearing loss. WS is subdivided into 4 major types (WS1-4), where WS2 is characterized by the absence of dystopia canthorum. This study was launched to investigate clinical and molecular characteristics of WS in an extended Iranian WS2 family. A comprehensive clinical investigation was performed. Peripheral blood samples were collected and genomic DNA was extracted...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28661938/age-at-pubertal-onset-in-girls-and-tobacco-smoke-exposure-during-pre-and-postnatal-susceptibility-windows
#9
Gayle C Windham, Raymond Lum, Robert Voss, Mary Wolff, Susan M Pinney, Susan L Teteilbaum, Connie S Sosnoff, Dina Dobraca, Frank Biro, Robert A Hiatt, Louise C Greenspan, Maida Galvez, Lawrence H Kushi
BACKGROUND: Tobacco smoke contains known hormonally active chemicals and reproductive toxicants. Several studies have examined prenatal maternal smoking and offspring age at menarche, but few examined earlier pubertal markers, nor accounted for exposure during childhood. Our objective was to examine pre- and postnatal smoke exposure in relation to timing of early pubertal events. METHODS: An ethnically diverse cohort of 1239 girls was enrolled at age 6-8 years old for a longitudinal study of puberty at three US sites...
September 2017: Epidemiology
https://www.readbyqxmd.com/read/28660406/evaluation-of-potentially-prolactin-related-adverse-events-and-sexual-maturation-in-adolescents-with-schizophrenia-treated-with-paliperidone-extended-release-er-for-2-years-a-post-hoc-analysis-of-an-open-label-multicenter-study
#10
Srihari Gopal, Rosanne Lane, Isaac Nuamah, Margaret Copenhaver, Jaskaran Singh, David Hough, Mark Bach, Adam Savitz
BACKGROUND: Elevated prolactin levels (hyperprolactinemia) are a frequent adverse effect of antipsychotic medications, especially in young populations. Prolonged hyperprolactinemia may affect sexual functioning and the onset and progression of puberty. OBJECTIVE: This study assessed potentially prolactin-related treatment-emergent adverse events (PPRL-TEAEs) and sexual maturation during long-term treatment of adolescents with paliperidone extended-release (ER). METHODS: This post hoc analysis of a 2-year open-label multicenter study (NCT00488319) included patients of either sex aged 12-17 years at study enrollment, diagnosed with schizophrenia (Diagnostic and Statistical Manual of Mental Disorders, 4th edition [DSM-IV]) for ≥1 year, who had received one or more adequate antipsychotic treatment prior to enrollment but had not responded sufficiently...
June 28, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28638587/association-between-helicobacter-pylori-infection-and-alopecia-areata-a-study-in-iranian-population
#11
Elham Behrangi, Parvin Mansouri, Shahram Agah, Nasser Ebrahimi Daryani, Marjan Mokhtare, Zahra Azizi, Mona Ramezani Ghamsari, Masoumeh Rohani Nasab, Zahra Azizian
BACKGROUND Alopecia areata is an immune mediated inflammatory hair loss, which occurs in all ethnic and age groups, and both sexes. However no significant etiology has been known for this disease. Helicobacter pylori (H. pylori) , is an organism colonized in gastric mucosa. This bacterium has been associated with certain extra-digestive dermatological conditions. The causal relationship between alopecia areata and H. pylori infection has been discussed in literature. Therefore, we conducted this study to evaluate the prevalence of H...
April 2017: Middle East Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28595647/pubertal-development-in-girls-by-breast-cancer-family-history-the-legacy-girls-cohort
#12
Mary Beth Terry, Theresa H M Keegan, Lauren C Houghton, Mandy Goldberg, Irene L Andrulis, Mary B Daly, Saundra S Buys, Ying Wei, Alice S Whittemore, Angeline Protacio, Angela R Bradbury, Wendy K Chung, Julia A Knight, Esther M John
BACKGROUND: Pubertal milestones, such as onset of breast development and menstruation, play an important role in breast cancer etiology. It is unclear if these milestones are different in girls with a first- or second-degree breast cancer family history (BCFH). METHODS: In the LEGACY Girls Study (n = 1040), we examined whether three mother/guardian-reported pubertal milestones (having reached Tanner Stage 2 or higher (T2+) for breast and pubic hair development, and having started menstruation) differed by BCFH...
June 8, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28593717/genetic-architecture-of-acne-vulgaris
#13
REVIEW
Ramtin Lichtenberger, Michael A Simpson, Catherine Smith, Jonathan Barker, Alexander A Navarini
BACKGROUND: Acne vulgaris is a ubiquitary skin disease characterized by chronic inflammation of the pilosebaceous unit resulting from bacterial colonization of hair follicles by Propionibacterium acnes, androgen-induced increased sebum production, altered keratinization and inflammation. OBJECTIVE: Here we review our current understanding of the genetic architecture of this intriguing disease and want to show rare and corresponding diseases like PCOS with acne vulgaris...
June 7, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28492036/updates-in-the-understanding-and-treatments-of-skin-hair-disorders-in-women-of-color
#14
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/28370528/the-biology-and-genetics-of-curly-hair
#15
REVIEW
Gillian E Westgate, Rebecca S Ginger, Martin R Green
Hair fibers show wide diversity across and within all human populations suggesting that hair fiber form and colour has been subject to much adaptive pressure over thousands of years. All human hair fibers typically have the same basic structure. However, the three dimensional shape of the entire fiber varies considerably depending on ethnicity and geography, with examples from very straight hair with no rotational turn about the long axis, to the tightly sprung coils of African races. The creation of the highly complex biomaterials in hair follicle and how these confer mechanical functions on the fibre so formed is a topic that remains relatively unexplained thus far...
March 31, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28358737/delay-in-sexual-maturation-in-perinatally-hiv-infected-youths-is-mediated-by-poor-growth
#16
Andrea Bellavia, Paige L Williams, Linda A DiMeglio, Rohan Hazra, Mark J Abzug, Kunjal Patel, Denise L Jacobson, Russell B Van Dyke, Mitchell E Geffner
OBJECTIVE: To evaluate the association between HIV infection and sexual maturation, and mediation of this association by HIV effects on growth. DESIGN: Pooled data were analyzed from two longitudinal cohort studies, the International Maternal Pediatric Adolescent AIDS Clinical Trials P219/219C Study (1993-2007) and the Pediatric HIV/AIDS Cohort Study Adolescent Master Protocol (2007-2015), including perinatally HIV-infected (PHIV) and HIV-exposed uninfected (PHEU) youths...
June 1, 2017: AIDS
https://www.readbyqxmd.com/read/28276806/psychobiological-impact-of-ethnic-discrimination-in-turkish-immigrants-living-in-germany
#17
Susanne Fischer, Urs M Nater, Jana Strahler, Nadine Skoluda, Leander Dieterich, Orgun Oezcan, Ricarda Mewes
Perceived ethnic discrimination has a negative impact on health. One of the key mechanisms may be a dysregulation of stress-responsive systems. Our aims were to investigate whether (1) acute face-to-face ethnic discrimination induces a stress response, and (2) to compare long-term endocrine functioning between immigrants and nonimmigrants. 30 male Turkish immigrants living in Germany underwent an ethnic discrimination condition and a control condition in the laboratory. Perceived ethnic discrimination, stress, salivary alpha-amylase and cortisol were measured four times...
March 5, 2017: Stress: the International Journal on the Biology of Stress
https://www.readbyqxmd.com/read/28196110/ethnic-variation-in-medical-and-lifestyle-risk-factors-for-b-cell-non-hodgkin-lymphoma-a-case-control-study-among-israelis-and-palestinians
#18
Geffen Kleinstern, Rania Abu Seir, Riki Perlman, Areej Khatib, Ziad Abdeen, Husein Elyan, Ronit Nirel, Gail Amir, Asad Ramlawi, Fouad Sabatin, Paolo Boffetta, Eldad J Dann, Meirav Kedmi, Martin Ellis, Arnon Nagler, Dina Ben Yehuda, Ora Paltiel
BACKGROUND: Risk factors for B-cell non-Hodgkin lymphoma (B-NHL) have not been assessed among Palestinian Arabs (PA) and Israeli Jews (IJ). METHODS: In a case-control study we investigated self-reported medical and lifestyle exposures, reporting odds ratios (ORs) and 95% confidence intervals [CIs], by ethnicity, for overall B-NHL and subtypes. RESULTS: We recruited 823 cases and 808 healthy controls. Among 307 PA/516 IJ B-NHL cases (mean age at diagnosis = 51 [±17] versus 60 [±15] years, respectively) subtype distributions differed, with diffuse large B-cell lymphoma (DLBCL) being prominent among PA (71%) compared to IJ (41%); follicular lymphoma (FL), was observed in 14% versus 28%, and marginal zone lymphoma, in 2% versus 14%, respectively...
2017: PloS One
https://www.readbyqxmd.com/read/28145909/novel-tbx3-mutation-in-a-family-of-cypriot-ancestry-with-ulnar-mammary-syndrome
#19
George A Tanteles, Nayia Nicolaou, Andreas Syrimis, Rafaella Metaxa, Michael Nicolaou, Violetta Christophidou-Anastasiadou, Nicos Skordis
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial variability in phenotypic expression. We report a family (twin brothers and their father) affected with UMS because of a novel TBX3 mutation. The twin brothers showed classical features of UMS, whereas their father was mildly affected. The c.1423C>T (p.Q475*) nonsense mutation in exon 6 of the TBX3 gene identified in the patients by targeted Sanger sequencing is predicted to lead to premature termination of translation...
April 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28138188/skin-of-colour-characteristics-and-disease
#20
Zohra Zaidi
Skin colour varies from pale white to very dark. Fitzpatrick's skin phototypes are based on the person's skin colour and its response to sun exposure in terms of burning and tanning of the skin. Fitzpatrick's type 1V-V1 is known as the skin of colour and type 1-111 is the fair or white skin. The colour of the skin and texture of the hair are the most apparent phenotype to differentiate the different races; this correlates closely with the geography and ultraviolet radiation of the sun. There are notable differences in skin disease incidence, presentation, and treatment based on skin type...
February 2017: JPMA. the Journal of the Pakistan Medical Association
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