research Treatment-resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
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30-60 / 1000+ results research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
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.
research Hiperplasia supra-renal congénita e mielolipoma adrenal - relação causal ou acidental?
Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
research Hypothyroidism: Clinical Features
Hypothyroidism slows metabolism, causing growth and mental issues in children and reversible symptoms in adults, needing early treatment.
research Lateral Leg Pain in a 26-Year-Old Woman
The woman had a benign bone tumor removed from her leg and remained healthy with no issues 8 years later.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Short anagen syndrome
Short anagen syndrome involves a hair growth phase lasting 1.5 years.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Analyses of histological and transcriptome differences in the skin of short-hair and long-hair rabbits
Hair length in rabbits is linked to differences in lipid metabolism and cell death.
research Innovative Reports on the Effects of Anabolic Androgenic Steroid Abuse—How to Lose Your Mind for the Love of Sport
Abusing steroids can damage your heart, muscles, reproductive system, liver, skin, and brain, and may increase the risk of Alzheimer's disease.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Perspectives in dermatopathology: telomeres and telomerase in ageing and cancer; with emphasis on cutaneous disease
Short telomeres contribute to aging and cancer, and while telomerase can delay aging, it may also promote cancer.
research Forensic DNA Phenotyping
Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
research Corticosteroids for the treatment of Duchenne muscular dystrophy
Corticosteroids, especially prednisone, improve short-term muscle strength in Duchenne muscular dystrophy but have manageable side effects.
research Improving human forensics through advances in genetics, genomics and molecular biology
DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research A prospective observational study on drug safety monitoring and Pharmacoeconomics in patients with locally advanced unresectable NSCLC in a tertiary care hospital
Carboplatin-paclitaxel is preferred for advanced lung cancer due to its balance of affordability and patient well-being.
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 Chronic inflammatory diseases are stimulated by current lifestyle: how diet, stress levels and medication prevent our body from recovering
Modern lifestyles, including poor diet, stress, and long-term use of certain medications, hinder the body's ability to heal from inflammation, leading to chronic diseases.
research Effects of mycorrhizal fungi on plant growth, nutrient absorption and phytohormones levels in tea under shading condition
Mycorrhizal fungi and shading improve tea plant growth and nutrient uptake by changing hormone levels and gene expression.
research Systemic Steroids With or Without 2% Topical Minoxidil in the Treatment of Alopecia Areata
Steroids help hair regrowth, and minoxidil slows post-steroid hair loss, but effects are temporary.
research Molecular heterogeneity of quiescent melanocyte stem cells revealed by single-cell RNA-sequencing
Different types of inactive melanocyte stem cells exist with unique characteristics and potential to develop into other cells.
research Assessment of Multidimensional Health Care Parameters Among Adults in Japan for Developing a Virtual Human Generative Model: Protocol for a Cross-sectional Study (Preprint)
The study aims to create a model to improve personalized and preventive health care.
research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
research Remission in Cushing disease with cabergoline
Cabergoline helped a boy with Cushing disease get better after surgery and radiotherapy didn't work.