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"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

Arab APS1 patients have unique and recurrent AIRE gene mutations.

A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.

Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

Sex neurosteroids cause different effects on hippocampal synaptic plasticity in males and females.

PAD is common but often missed, needing lifestyle changes and medication for better outcomes.

AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.

Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.

Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.

CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.

A specific gene change is linked to severe hair loss.

Alopecia areata patients don't have increased atherosclerosis risk, but may have higher cardiovascular risk due to smoking, blood sugar, and blood pressure.

Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.

Systemic lupus erythematosus treatment can restore vision in patients with retinal artery occlusion.

CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.

Alopecia areata patients have a higher risk of subclinical atherosclerosis, and carotid ultrasound can help assess their cardiovascular risk.

Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.

Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

The study found a unique vein pattern around the aorta and two arteries in the right kidney.

Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.

Young adults with hair loss face higher risk of stiff arteries.

Early onset baldness may be linked to thicker artery walls.

Recognizing CVG can help diagnose systemic amyloidosis early.

Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.

A simple test can help diagnose a rare bruising disorder after ruling out other causes.