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

Undiagnosed lupus can cause severe complications after epidural anesthesia, leading to muscle weakness and potentially death.

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

Depression and skin autoimmune diseases are linked, needing combined care for better treatment.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

Mesenchymal stem cells could help treat aging-related diseases better than current methods.

Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

Social media data can help track COVID-19 symptoms and predict the pandemic's status.

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

Obesity leads to physical, metabolic, reproductive issues, higher healthcare costs, and mental health problems.

Severe and early hair loss may indicate a higher risk of heart disease.

Lipedema is a painful fat disorder in women that's hard to treat, often worsens with hormonal changes, and requires symptom-focused therapies.

Experts met to improve care for ichthyosis patients in Spain.

Celiac disease requires more than just a gluten-free diet for effective management.

Tumid lupus erythematosus can cause non-scarring hair loss on the scalp and requires careful diagnosis.

Cirrhosis affects quality of life with various symptoms, requiring a holistic, multidisciplinary approach for management.

Oxytocin receptors are found in skin cells near touch and pain neurons.

taVNS reduces vitiligo symptoms in mice.

A balanced diet with proteins, vitamins, and minerals is crucial for managing skin disorders.

Adipose-derived stem cells can help repair and improve eye tissues and appearance.

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

A new minoxidil regimen improved hair loss in a lupus patient.

Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.

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.

Long-term use of androgens can help manage Hereditary Angioedema (HAE) but may cause serious side effects, so alternative treatments with fewer side effects are being considered.

There are many ways to treat Polycystic Ovary Syndrome, including lifestyle changes, surgery, and various medications, but more research is needed for better treatments.

Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.

Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.