research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
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630-660 / 1000+ results research Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Excessive body hair can signal complex health issues.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Limited stage small cell lung cancer
Treat limited stage small cell lung cancer with chemotherapy and radiation, and consider preventive brain radiation for better survival chances.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research Ectopic Sebaceous Glands in the Hair Follicle Matrix: Case Reports and Literature Review of this Embryogenic Anomaly
The cause and importance of misplaced oil glands in the hair follicle are not well understood.
research Trichothiodystrophy without associated neuroectodermal features in two siblings
Two sisters had a rare hair condition without other usual symptoms.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Pubertät
The document concludes that pediatricians play a vital role in supporting adolescents through puberty and should enhance their competence in this area.
research My First Terrible Diagnosis
The medical student learned to balance medical knowledge with empathy when delivering difficult news to patients.
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research Re: Relationship Between Lower Urinary Tract Symptoms and Erectile Dysfunction: Results From the Boston Area Community Health Survey
Men with urinary symptoms are more likely to have erectile dysfunction, and there's a debate about research methods and authorship ethics.
research Hacia una oscuridad luminosa de las circunstancias
Cornifin-alpha/SPRR1 is increased in certain skin conditions and by specific treatments.
research Acción de Finasteride sobre el volumen prostático en caninos con hiperplasia prostática benigna
Finasteride effectively reduces prostate size in dogs with benign prostatic hyperplasia at a low, safe dose.
research Efectos de la terapia combinada del D-004 y el Finasteride sobre la hiperplasia de próstata inducida por testosterona en ratas
Combining D-004 and finasteride is more effective at reducing prostate enlargement than using either alone.
research Trademarks and the Internet: The United States' Experience
Trademark law evolved to address online misuse and now seeks balance for fair use.
research Traditional Knowledge Digital Library: The Challenges Ahead
The document suggests creating a secure database for indigenous knowledge and recommends that the TKDL actively fight patents that slightly alter traditional knowledge.
research Confusion Over Use: Contextualism in Trademark Law (with M. Janis)
research Medical treatment methods, medical indication claims and patentability: A quest into the rationale of the exclusion and patentability in the context of the future of personalised medicine
Abolishing medical indication patents could hinder innovation in medicine.
research Antagonism of NMDA receptors as a potential treatment for Down syndrome: a pilot randomized controlled trial
Memantine may slightly improve memory in people with Down syndrome, but more research is needed.
research The Essence of Alternative Medicine
Alternative medicine lacks scientific support and relies on the placebo effect, but remains popular and integrated into German healthcare.
research Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Subject Index Vol. 3, 2002
research Confusion Over Use: Contextualism in Trademark Law
Trademark law should focus on context, not rigid rules, for clearer decisions.
research Comorbidities in alopecia areata: A systematic review and meta-analysis
People with alopecia areata often have other health issues like skin diseases, metabolic syndrome, stomach infections, lupus, anemia, thyroid problems, mental health issues, vitamin D deficiency, and hearing and eye problems.