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Alagille Syndrome
New high-throughput assay enhances diagnosis of Alagille syndrome
New high throughput assay enhances early detection of cholestasis in newborns
Study explores patterns of disease expression in Alagille syndrome
Allergy/Immunology
Systematic review confirms link between pesticide exposure and respiratory issues in children
Regulatory limits on nickel exposure may not sufficiently protect against allergic reactions
Study shows benralizumab’s efficacy in treating severe eosinophilic asthma
Autoimmune
Study finds rare co-occurrence of systemic lupus erythematosus and primary biliary cirrhosis
FDA approves Vyvgart Hytrulo for chronic inflammatory demyelinating polyneuropathy
Therapeutic plasma exchange shows promise in treating Stiff Person Syndrome
Cardiology
New diagnostic test for calcium release deficiency syndrome shows promise
When Improved Patient Care Comes at a Cost for Hospital Staff: The Double-Edged Sword of X-ray Advancements in the Cath Lab
Innovative ICT-based monitoring system shows promise in enhancing physical activity during hospitalization
Dermatology
Post-market study confirms NEAUVIA Intense effectiveness for nasolabial fold correction
FDA expands approval for Klisyri to treat larger areas of actinic keratosis
Regulatory limits on nickel exposure may not sufficiently protect against allergic reactions
Endocrinology
MAGIC Foundation’s annual convention empowers families and advances pediatric endocrine care
Surgery reverses hypogonadism in majority of men with Cushing syndrome
Romosozumab more effective, safer than teriparatide for increasing bone mineral density in postmenopausal women
Gastroenterology
Study finds rare co-occurrence of systemic lupus erythematosus and primary biliary cirrhosis
Survey reveals knowledge gap in newborn screening for CF, other abnormalities
Pre-gastroscopy maltodextrin beverage found safe with improved patient well-being
Genetic and Congenital
Mirum Pharmaceuticals submits new drug application for Chenodiol for CTX
Rare Genomes Project Makes Strides in Diagnosing Rare Diseases
Study suggests safe use of chenodeoxycholic acid treatment in pregnant women with CTX
Growth Hormone Deficiency
First-year growth in rhGH treatment signals long-term outcomes in children with GHD
MAGIC Foundation’s annual convention empowers families and advances pediatric endocrine care
HRQoL in short-stature children: The role of PROMs and ObsROMs
Hematology
Study finds intravenous iron safe for cancer anemia despite infection risk concerns
Iron deficiency common among elderly, even in non-anemic individuals
Danicopan shows promising results in PNH clinical trial
Homozygous Familial Hypercholesterolemia (HoFH)
New machine-learning model improves detection of HoFH
Study advocates for widespread screening for HoFH in the US
Tips for Transitioning Patients With HoFH From the Pediatric to Adult Care Setting
Industry News
How Accessible Genetic Testing is Making a Big Difference for a Small Patient Population
Quiz: Challenges in Conducting Rare Disease Clinical Trials
Ipsen to acquire Albireo accelerating growth in rare disease with treatments for several pediatric liver diseases
Infectious Diseases
Simulation study reveals best practices for nursing home outbreak mitigation
CDC study reveals struggles of healthcare personnel in ensuring infection prevention in labor and delivery
Parental Awareness of MIS-C: Survey reveals gaps in knowledge
Inherited Retinal Diseases
Positivity Rates and Variant Reclassification: A Comparative Study of IRD Panels
Inherited Retinal Diseases: Recent Trial Results and Remaining Challenges
New research highlights frequency and distribution of ocular surgeries in patients with IRD
Metabolic
Newborn screening for rare disease improves outcomes
FDA approves first treatment for long-chain fatty acid oxidation disorders
Next-generation sequencing to provide precision medicine for rare metabolic disorders
Neurology
Eculizumab shows promise in treating juvenile generalized myasthenia gravis
Therapeutic plasma exchange shows promise in treating Stiff Person Syndrome
Discontinuing high-efficacy therapy for older patients with MS raises relapse risk
Oncology
Study finds intravenous iron safe for cancer anemia despite infection risk concerns
Study identifies optimal treatment options for advanced hepatocellular carcinoma
Tailored therapy for soft tissue sarcoma: Real-world big data unveils key insights
Pulmonology
Survey reveals knowledge gap in newborn screening for CF, other abnormalities
Link found between metabolic syndrome and asthma in obese adolescents and young adults
Dupilumab shows promise in patients with type 2 asthma with elevated neutrophil counts
Rheumatology
FDA approves Kevzara for treatment of active polyarticular juvenile idiopathic arthritis
Pulmonary diseases emerge as leading causes of mortality in patients with anti-synthetase syndrome
Filgotinib shows consistent efficacy in rheumatoid arthritis, regardless of BMI changes
Sarcoma
Recognizing Sarcoma: Insights from pre-diagnosis GP visit trends
Best of 2023: Sarcoma
Tailored therapy for soft tissue sarcoma: Real-world big data unveils key insights
Smith-Lemli-Opitz Syndrome
Cholic acid supplementation boosts cholesterol in patients with SLOS
Quiz: Smith-Lemli-Opitz syndrome is a genetic disorder caused by a deficiency in which enzyme?
New syndrome mimicking SLOS potentially linked to prenatal fentanyl exposure
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Michael Kazim, MD discusses AAO Presentation
Thyroid Eye Disease
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Michael Kazim, MD discusses AAO Presentation
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