research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
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research Acute Hepatitis and Pancytopenia in a Child With Chronic Abuse of Senna
A child's chronic use of Senna caused liver damage and a severe decrease in blood cells, but improved after stopping Senna and getting treatment.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Trusting your gut: a hairy situation—gastric trichobezoar case report
Consider trichobezoars in young girls with vague symptoms for accurate diagnosis.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research Unusual Presentation of Rapunzel Syndrome in an 8-Year-Old Girl
Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.
research Protein-Losing Enteropathy, Anasarca and Dermatological Manifestations on People of Advanced Age: Don't Overlook the Diagnostic Hypothesis of a Cronkhite Canada Syndrome
Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
research Selenium status in Sudanese children with protein-calorie malnutrition.
Sudanese children with severe malnutrition have low selenium levels, which may affect their recovery.
research #6180 OXALATE NEPHROPATHY SECONDARY TO ENTERIC HYPEROXALURIA: A RARE CAUSE OF END STAGE RENAL FAILURE – A REPORT OF 2 CASES
Enteric hyperoxaluria can cause severe kidney failure after bowel surgery.
research Cutaneous manifestations of metabolic diseases: uncommon presentations
Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
research Pharmacological Inhibition of Stearoyl CoA Desaturase in the Skin Induces Atrophy of the Sebaceous Glands
Blocking SCD1 in the skin with XEN103 shrinks sebaceous glands in mice.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research A Case of Cronkhite-Canada Syndrome Involving the Entire Gastrointestinal Tract
Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.
research Severe Insulin Resistance in a Pediatric Patient: Key Areas to Address in the Screening
The case emphasizes the need for careful screening in children for insulin resistance and related conditions.
research RSPO1, a potent inducer of pancreatic β cell neogenesis
RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
research Obesity resistance of the stearoyl-CoA desaturase-deficient (scd1 -/-) mouse results from disruption of the epidermal lipid barrier and adaptive thermoregulation
Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
research Penatalaksanaan Enterobiosis pada Anak Melalui Pendekatan Kedokteran Keluarga
A family medicine approach improves treatment and quality of life for children with enterobiosis.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Acquired silky African hair, malnutrition, and chronic diseases
research Thiopurine-induced Myelosuppression with Severe Sepsis in a Patient with Crohn's Disease: A Case Report
Testing for the NUDT 15 variant is crucial before starting azathioprine, especially in Asians.
research An unusual case report of rapunzel syndrome trichobezoar in a 3-year-old boy
A 3-year-old boy had a rare hairball condition usually seen in teenage girls.
research 34 A patient with insulin-dependent diabetes mellitus 1 year after being diagnosed with membranous glomerulonephritis
A 9-year-old girl developed type 1 diabetes and alopecia after being treated for a rare kidney disease.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research GASTROINTESTINAL TUBERCULOSIS PRESENTING AS INTESTINAL OBSTRUCTION IN A 16-YEAR-OLD FILIPINO WITH PEDIATRIC SYSTEMIC LUPUS ERYTHEMATOSUS
Early recognition and management of gastrointestinal tuberculosis in lupus patients are crucial to prevent complications.
research A RARE CASE OF SIMULATANEOUS DEVELOPMENT OF ALOPECIA AREATA UNIVERSALIS AND TYPE 1 DIABETES MELLITUS
A 24-year-old man developed both alopecia areata universalis and type 1 diabetes at the same time, which is rare.
research Syringolymphoid hyperplasia with alopecia and anhidrosis in a 12‐year‐old boy: a case report from rural south India
A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
research Letters to the Editor
A gluten-free diet resolved a girl's symptoms, revealing undiagnosed Coeliac disease as the cause.