research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
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research Childhood Systemic Lupus Erythematosus: Clinical and Immunologic Patterns in Mexican Children
Gender-specific analysis could improve treatment for childhood systemic lupus erythematosus.
research Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
research Skin manifestations associated with systemic diseases – Part I
The conclusion is that early diagnosis of skin signs linked to diseases like Lupus, Dermatomyositis, and Rheumatoid Arthritis is crucial to prevent serious complications.
research PA13 A hair’s breadth from misdiagnosis
A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
research Unusual Case Presentation of Systemic Lupus Erythematosus in a Young Woman
A young woman with severe symptoms was diagnosed with SLE and improved significantly after treatment.
research Current Topics in Post-COVID Syndromes
Long COVID causes lasting health issues, needing ongoing research and better healthcare strategies.
research Adult Onset Still Disease
High-dose corticosteroid treatment helped improve symptoms in a patient with Adult Onset Still Disease.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Current recommendations for the diagnostic evaluation and follow-up of patients presenting with symptomatic polycystic ovary syndrome
The diagnosis of polycystic ovary syndrome (PCOS) requires a detailed patient history, ultrasound scanning, hormone level checks, and assessments of ovulation, obesity, and insulin resistance. It's a variable condition that needs individualized management and is a significant risk factor for type 2 diabetes.
research Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report
A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
research Strange cutaneous abnormalities and polyposis in an Asiatic man
A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research Persistent Papular Plaques on the Face
Persistent papular plaques on children's faces need better understanding and treatment.
research Fever, Maculopapular Rash and Severe Aphthous Stomatitis in a Renal Transplant Patient
The patient improved after antiviral treatment for a viral infection.
research LOSING SIGHT OF THE DIAGNOSIS: A CASE REPORT OF NEUROMYELITIS OPTICA SPECTRUM DISEASE AND SYSTEMIC LUPUS ERYTHEMATOSUS-NEUROAUTOIMMUNITY IN FOCUS, CORRELATION OR COINCIDENCE?
Correct diagnosis is crucial for treating overlapping conditions like NMOSD and SLE effectively.
research The Shifting Landscape of Disease-Modifying Therapies for Relapsing Multiple Sclerosis
New treatments for relapsing multiple sclerosis are more effective and convenient but have higher risks of serious side effects.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns].
Antifungal treatment can improve severe skin infections with cutaneous horns.
research AN OVERVIEW ON POLYCYSTIC OVARIAN SYNDROME
PCOS is a hormonal disorder affecting many women, leading to symptoms like acne and irregular periods, and increasing the risk of diabetes and heart disease.
research Coexistence of acquired localized hypertrichosis and lipoatrophy after lupus panniculitis
Localized hair growth and fat loss may share a common cause in lupus panniculitis.
research Postfebrile telogen effluvium in critically ill patients
Critically ill patients may experience temporary hair loss after a fever.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Polycystic ovary syndrome: a review of cases from general practice
Most women with polycystic ovary syndrome were first diagnosed by their family doctor, who may need to record symptoms better and rely less on ultrasounds.
research POLYCYSTIC OVARY SYNDROME: PATHOGENESIS, TREATMENT AND SECONDARY ASSOCIATED DISEASES
PCOS is a common hormonal disorder in women linked to several health risks and can be managed through various treatments.
research Lupus-Associated Knee Pain: An Atypical Presentation of Systemic Lupus Erythematosus in a Young Male
SLE can occur in young males and cause knee pain.
research Differential diagnoses of pseudolymphomatous folliculitis: considerations as regards one case
Accurate diagnosis of pseudolymphomatous folliculitis is crucial to avoid mistaking it for more serious conditions.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research Secondary amenorrhea
Secondary amenorrhea has many causes and requires thorough evaluation to treat and restore menstrual cycles.
research ODP342 Panhypopituitarism Induced by CTLA-4 and PD-1/PD-L1 Inhibitor Immunotherapy
Immunotherapy for cancer caused a patient to develop a condition affecting hormone production, requiring ongoing hormone replacement therapy.