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Some families have a genetic condition where they are born with irregular scalp defects.

Defects in certain proteins cause major heart abnormalities during early development.

Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.

Children with classic congenital adrenal hyperplasia have thicker heart fat and are at higher risk for heart problems and early atherosclerosis.

Children with classic congenital adrenal hyperplasia have thicker heart fat and more heart and blood vessel risk factors, especially if their condition is not well-controlled.

Systemic retinoids are effective for psoriasis but have side effects; benefits may outweigh risks, especially when reducing cancer risks from other treatments.

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

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

Accurate diagnosis and timely, tailored treatments improve outcomes in obstetrics and gynecology.

Cats lose fur due to various reasons, including allergies, infections, genetics, hormones, diet, cancer, stress, and some conditions are treatable while others are not.

The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.

Inflammatory skin conditions are the most common in Brazilian children, with atopic dermatitis being the top issue.

The guide helps doctors diagnose hair problems by suggesting a thorough patient history, physical exams, and various diagnostic tools.

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.

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

Adult female acne treatment should be personalized, considering individual preferences and pregnancy, using various topical and oral medications while managing side effects and resistance.

Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.

The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.

A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.

Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.

The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.

Some skin medications are safe during pregnancy and breastfeeding, but others can harm the baby and should be avoided.

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

Anti-Ro exposed children had more reported neuro-psychiatric issues, but differences from healthy controls were not significant.

High levels of male hormones in pregnant mice cause heart enlargement and poor heart function in their female babies.

New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.

Minoxidil treatment improves heart defects in a DiGeorge syndrome model.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

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

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