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Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.

New treatments for hair loss from alopecia areata may include targeting immune cells, using stem cells, balancing gut bacteria, applying fatty acids, and using JAK inhibitors.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.

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

The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.

A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.

A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.

Lack of cystatin M/E causes thin hair and dry skin.

Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.

There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.

Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.

The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.

Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.

Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.

A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.

Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.

Understanding where cancer cells come from helps create better prevention and treatment methods.

The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

New treatments for advanced skin cancer are improving patient outcomes, but drug resistance and finding the right treatment combinations are still big challenges.

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.