research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
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research Bachmann–Bupp Syndrome and Treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Neuropathic Pruritus: An Underrecognized and Often Misdiagnosed and Difficult to Treat Medical Condition
Neuropathic pruritus is a commonly overlooked and wrongly diagnosed type of chronic itching that is hard to treat.
research Rare and Underappreciated Causes of Polycystic Ovarian Syndrome
Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Adult Onset Isolated Hypogonadotropic Hypogonadism: A Cause of Secondary Amenorrhea
A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Finasteride
Finasteride might cause rare blood clot in brain for baldness patients.
research Psychosis as a Late Manifestation of Sheehan’s Syndrome
Sheehan's syndrome can sometimes cause psychosis.
research Hodgkin's Lymphoma Presenting as Alopecia
Hodgkin's lymphoma can show up as hair loss.
research Symptom Management in Inflammatory Bowel Disease
Effective symptom management in IBD improves quality of life and prevents complications.
research Hyperandrogenism in a Postmenopausal Woman Secondary to Testosterone-Secreting Ovarian Stromal Tumor with Acoustic Schwannoma
A 63-year-old woman's male-like symptoms were caused by a rare testosterone-producing ovarian tumor, treated by removing her ovaries and fallopian tubes.
research A Case of Hemi-Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
research Delayed Puberty: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research A Curious Case of Cushing Syndrome
A single steroid injection can cause serious side effects like Cushing Syndrome.
research A 15-Year-Old Female Patient Diagnosed with Systemic Lupus Erythematosus and Initially Presented with Lupus Nephritis, Cerebritis, and Diffuse Alveolar Hemorrhage
Early recognition and treatment of severe SLE symptoms can improve outcomes.
research A Case of Glucocorticoid Resistance Syndrome
The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
research Atypical Presentation of Systemic Lupus Erythematosus with Vasculitic Polyneuropathy
A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
research An Adult With Hair Loss: A Rare Case of Non-Classical 3β Hydroxysteroid Dehydrogenase Deficiency
A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
research Novel Association of Trichothiodystrophy With Autoimmune Thyroiditis and Autoimmune Hemolytic Anemia: A Case Report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Management of Older Patients With Metastatic Renal Cell Carcinoma Receiving Sunitinib: A Hypothetical, Illustrative Case Scenario
Older patients with advanced kidney cancer can be managed with a drug called Sunitinib.
research Bilateral Vocal Cords Palsy in Adolescent Systemic Lupus Erythematosus Patient
A 17-year-old girl with lupus had vocal cord paralysis but improved with treatment.
research Alisertib Is Active as Single Agent in Recurrent Atypical Teratoid Rhabdoid Tumors in Four Children
Alisertib was found to be an effective and tolerable treatment for children with recurrent brain tumors.
research Endocrine Disorders and Infertility
Hormone imbalances from the pituitary, thyroid, and adrenal glands can cause infertility, but treating these disorders can improve fertility.
research Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Hirsutism
Most women with excessive hair growth have PCOS; treatment varies and focuses on preventing new hair, with electrolysis as the only permanent removal method.
research Diagnosis and Treatment of Methylmalonic Acidemia in 14 Cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.