research Mitochondrial DNA 10158T>C Mutation in a Patient with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
Search
for
Sort by
Research
60-90 / 868 results
research Non-Dietary Scurvy With Relapse Symptoms After Stopping Oral Vitamin C Supplementation
A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.
research Progressively Intractable Seizures, Focal Alopecia, and Hemimegalencephaly
The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
research A Rare Case of Steroid Cell Tumor, Not Otherwise Specified, of the Ovary in a Young Woman
A young woman's rare ovarian tumor was successfully removed, improving her hormonal symptoms.
research A Rare Case of an Androgen-Producing Stromal Luteoma of the Ovary in a Postmenopausal Woman, Diagnosed by Selective Venous Blood Sampling
Doctors used a special blood sampling technique to diagnose a woman's rare ovarian tumor that was producing male hormones.
research Balint’s Syndrome—Missed or Mistaken?
The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
research Trichotillomania: A Review of Impulse-Control Disorder and Treatment Options
Trichotillomania is a challenging-to-treat impulse-control disorder where individuals pull out their hair, more common in females, with some treatments showing benefits.
research An Adolescent Girl with Coexisting Ovarian Mature Cystic Teratoma and HAIR-AN Syndrome, an Extreme Subtype of Polycystic Ovarian Syndrome
A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
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 31-Year-Old Woman With Chronic Daily Headache and Alopecia
A woman's chronic headaches and hair loss were cured by treating her syphilis.
research Polycystic Ovary Syndrome Mimicking an Androgen-Secreting Tumor
A young girl with high testosterone was thought to have a tumor but actually had PCOS, which was treated with birth control pills.
research Androgenic Alopecia in Postmenopausal Ovarian Hyperthecosis
Hair loss in postmenopausal women due to ovarian hyperthecosis is rare, but removing the ovaries can significantly improve the condition.
research Leydig Cell Tumor: A Rare Cause of Post-Menopausal Hyperandrogenism
Leydig cell tumors can cause high testosterone and symptoms in postmenopausal women, and removing them improves symptoms.
research Dyad of Infantile Cutaneous and Thymic Langerhans Cell Histiocytosis: Is It Rare?
Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.
research Desmopressin Stimulation Test as a Valuable Tool in Establishing Cushing Syndrome Etiology
The desmopressin stimulation test helped identify an adrenal cause for a patient's Cushing's syndrome.
research Secondary Amenorrhea With Absent Axillary Hair
The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
research A 1.6cm Androgen Secreting Ovarian Leydig Cell Tumor Evades Detection on Multiple Imaging Modalities
A woman's small ovarian tumor causing high androgen levels was missed by several scans but found during surgery.
research The Treatment of Opioid Addiction Leading to Secondary Adrenal Insufficiency
Long-term treatment with buprenorphine/naloxone for opioid addiction may lead to secondary adrenal insufficiency.
research Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research Rare Presentation of Precocious Puberty Secondary to LH-Secreting Adenoma
An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
research Ovarian Hemangioma With Stromal Luteinization
The removed ovarian tumor was a rare type of blood vessel tumor that improved the patient's symptoms and hormone levels after surgery.
research Hyperandrogenism in Postmenopausal Women
A 77-year-old woman with hair loss had high testosterone and 17OH-progesterone levels, but no significant findings on imaging.
research Systemic Lupus Erythematosus as a Rare Cause of Hypercalcemia: A Case Report
Lupus can be a rare cause of high calcium levels in the blood.
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 A Rare Case of Constrictive Pericarditis with Co-Existing Positive COVID-19: Probable Autoimmune or Immunoglobulin Related Disease
An 80-year-old man with COVID-19 also had constrictive pericarditis, possibly due to an autoimmune or immunoglobulin related disease, and improved after surgery.
research Sheehan Syndrome Leading to Acute Systolic and Diastolic Heart Failure: A Case Report
Untreated Sheehan's Syndrome caused severe heart failure in a woman, which improved with hormone and heart failure treatment.
research Chronic Urticaria Versus Dermatomyositis in a Case of T-Cell Large Granular Lymphocytic Leukemia
The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
research A Case of Pituitary Hyperplasia Secondary to Uncontrolled Primary Hypothyroidism
Taking thyroid medication reduced the patient's pituitary gland swelling and improved her symptoms.