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Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.

Genetic testing for EGFR mutations is crucial in similar cases.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

Non-motor symptoms in myasthenia gravis are common and need early diagnosis for better management.

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

Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.

Early detection and removal of hair can prevent damage in hair-thread tourniquet syndrome.

Ovarian hyperthecosis can cause high testosterone and symptoms like hair loss, and surgery can help improve these symptoms.

Hair-tourniquet syndrome can cause serious toe injuries in infants but can be treated if found early.

Sorafenib may cause hand-foot and stump syndrome, requiring early detection and management.

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

Oral spironolactone and isotretinoin are effective for treating acne.

Recognizing lupus as a cause of severe gut issues is crucial for effective treatment.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

A rare ovarian tumor was diagnosed in a woman from North Brazil, and surgery is the preferred treatment.

Consider THPP in patients with muscle weakness and low potassium, as it is often underdiagnosed.

A postmenopausal woman's excess male hormone symptoms improved after her ovaries were removed.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

The cause of the syndrome with scalp scaling and hair loss is unknown.

Loose anagen hair syndrome in children may improve with age, but treatment results vary.

A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.

Thyroid storm is hard to diagnose due to vague symptoms but needs urgent attention.

A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.

A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.

Monilethrix causes different levels of hair loss in family members.

A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.

A gluten-free diet and surgery fixed the girl's calcium levels and started puberty.