research The story of when kidneys fail and the contribution of Air Vice-Marshal Sir Ralph Jackson
Air Vice-Marshal Sir Ralph Jackson significantly advanced dialysis technology in the UK.
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research Tackling underrepresentation to aid understanding of Parkinson’s disease: Progress and further opportunities
Addressing underrepresentation in Parkinson's research is crucial for better treatments and understanding.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Index
The document is a detailed guide on skin conditions and treatments for dermatologists.
research Industry updates from the field of stem cell research and regenerative medicine in June 2019
In June 2019, the stem cell research field saw major progress, including new clinical trials, FDA approvals, and industry collaborations.
research References
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Calcineurin-based immunosuppression in renal transplantation : focus on efficacy, the role of steroids, and the cardiovascular risk
Tacrolimus causes fewer acute rejections than cyclosporin A in kidney transplants but doesn't necessarily improve kidney function after one year; cardiovascular risks and side effects vary between the two drugs.
research Male fertility and skin diseases
Some skin diseases and their treatments can negatively affect male fertility.
research The clinical spectrum of parathyroid disease
The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.
research Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation
A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
research Hot topics in pediatric dermatology
Covers common skin issues in kids, their diagnosis, treatment, and need for specialist care.
research Adrenal causes of endocrine hypertension in childhood or adolescence
Adrenal disorders often cause high blood pressure in young people.
research The skin findings of pregnant women and our treatment choices. A Turkish experience: a 5-year survey.
Turkish pregnant women commonly experienced skin issues like itching and acne, and doctors mainly used topical treatments due to safety concerns during pregnancy.
research Delayed Puberty
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
research ATP-dependent chromatin remodeling during mammalian development
ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Standards of Care for the Health of Transsexual, Transgender, and Gender-Nonconforming People, Version 7
The guidelines recommend informed consent for gender-affirming treatments and stress the importance of personalized, culturally sensitive care for transgender individuals.
research A Comprehensive Review on Metabolic Syndrome
Managing metabolic syndrome needs both lifestyle changes and medical treatments.
research Wound Healing: A Cellular Perspective
The document concludes that better targeted treatments are needed for wound healing, and single-cell technologies may improve cell-based therapies.
research Use of chemotherapy during human pregnancy
Chemotherapy in the first trimester of pregnancy is risky, but in the second and third trimesters, it's generally safe with careful drug selection and timing.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research The pathophysiology of polycystic ovary syndrome
Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.
research Transforming growth factor-β in stem cells and tissue homeostasis
TGF-β is crucial for tissue repair and can cause diseases if not properly regulated.