January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
2 citations,
May 2023 in “International Journal of Molecular Sciences” Gene expression in hair follicles can help diagnose methamphetamine use disorder.
11 citations,
December 2012 in “Seminars in Cutaneous Medicine and Surgery” Genetic factors affect hair loss, and molecular testing may help predict, diagnose, and treat it.
8 citations,
March 2020 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
3 citations,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
378 citations,
November 2011 in “Human reproduction update” Experts recommend using evidence-based methods to diagnose and treat hirsutism, focusing on symptoms and underlying causes.
103 citations,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
66 citations,
February 2015 in “Cell & tissue research/Cell and tissue research” The document concludes that there are no effective clinical treatments for hearing loss due to hair cell damage, but research is ongoing.
61 citations,
October 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” The document concludes that accurate diagnosis is crucial for effectively treating common scalp disorders, which often have similar symptoms.
42 citations,
January 2011 in “Journal of Biomedical Optics” Infrared and Raman imaging can non-destructively analyze hair structure and help diagnose hair conditions.
41 citations,
April 2010 in “Gender Medicine” The conclusion is that hirsutism should be diagnosed and treated because it affects quality of life and may signal other health problems.
33 citations,
March 2006 in “Seminars in cutaneous medicine and surgery” The document explains how to identify different hair problems using a microscope.
30 citations,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
26 citations,
March 2014 in “Arquivos Brasileiros De Endocrinologia E Metabologia” The document concludes that proper diagnosis and combined treatments are key for hirsutism management, and weight loss may help overweight patients.
25 citations,
October 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
17 citations,
September 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
12 citations,
May 2018 in “Molecular and Cellular Endocrinology” Testosterone significantly affects sexual desire in both men and women, but its impact on women is more complex and influenced by psychological factors.
12 citations,
June 2012 in “Revista da Sociedade Brasileira de Medicina Tropical” A family had a rare fungal infection called white piedra, identified as Trichosporon inkin.
10 citations,
May 2018 in “Cell death discovery” HSP90 and lamin A/C are crucial for hair growth and could be targets for treating hair loss.
10 citations,
January 2003 in “Seminars in reproductive medicine” The article explains how to identify and treat excessive hair growth in women, which can be distressing and may signal other health problems.
9 citations,
January 2015 in “Current problems in dermatology” Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
7 citations,
June 2019 in “Australasian Journal of Dermatology” AGA in children needs careful diagnosis due to low androgen levels and possible other causes.
2 citations,
October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
2 citations,
February 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
May 2023 in “Pharma innovation” Ringworm in cattle can be effectively treated with Povidone iodine and Whitefield ointment.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
1265 citations,
December 2013 in “The Journal of Clinical Endocrinology and Metabolism” The guideline suggests using specific criteria to diagnose PCOS, recommends various treatments for its symptoms, and advises screening for related health issues.
130 citations,
October 2006 in “Allergy” Allergic reactions to blood thinners are rare but can be serious, requiring careful testing and alternative treatments.