Search

everythinglearnresearchcommunity

for

Search:↓

The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.

Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.

A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.

The conclusion is that formalizing how past decisions influence current health technology assessments could improve the credibility and defense of coverage decisions.

Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.

With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.

Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.

PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.

The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.

The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.

There are still challenges in diagnosing and treating chronic skin diseases, but there is hope for future improvements.

Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.

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.

Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.

Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.

The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.

The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.

Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.

Finasteride may help reduce symptoms in male Tourette syndrome patients.

Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.

THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.

Finasteride may help reduce tic severity in male Tourette syndrome patients.

The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.

Most hirsutism cases are due to PCOS, and treatment focuses on lowering testosterone and blocking its effects.

Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.