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Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.

Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.

Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.

The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.

Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.

Genetic mutations can affect female sexual development, requiring personalized medical care.

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.

The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.

Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.

Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.

Over 67 genes linked to ichthyosis help improve diagnosis and treatment.

The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.

The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.

The document is a detailed medical reference on skin and genetic disorders.

A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.

Experts met to improve care for ichthyosis patients in Spain.

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.

A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.

A child with a rare vitamin D-resistant condition improved with treatment.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.

A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.

The guideline suggests using specific criteria to diagnose PCOS, recommends various treatments for its symptoms, and advises screening for related health issues.

A genetic marker linked to a type of hair loss was found in most patients studied.

Early detection and comprehensive treatment of PCOS are crucial due to its long-term health impacts and associated risks.

The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.

Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.