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Alagille Syndrome
New study examines safe micafungin dosing after pediatric liver transplantation
New treatment shows promise for patients with primary biliary cholangitis
Study reveals insights into cerebrovascular abnormalities in children with Alagille syndrome
Allergy/Immunology
Regulatory limits on nickel exposure may not sufficiently protect against allergic reactions
Study shows benralizumab’s efficacy in treating severe eosinophilic asthma
Study shows omalizumab and SCIT superior to medication therapy for hay fever
Autoimmune
Several common autoimmune disorders linked with increased odds of AMD
Low-dose interleukin-2 shows promise in treating autoimmune rheumatic diseases
Filgotinib shows consistent efficacy in rheumatoid arthritis, regardless of BMI changes
Cardiology
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
Palliative care proven effective in enhancing quality of life for patients with chronic heart failure
Dermatology
Regulatory limits on nickel exposure may not sufficiently protect against allergic reactions
New study shows carboxytherapy effective in treating periorbital hyperpigmentation
FDA approves tralokinumab for moderate-to-severe atopic dermatitis in pediatric patients
Endocrinology
Study finds limited incidence of glycemic excursions in patients with TED treated with teprotumumab
Neuroimaging markers could aid in early detection of immune-related visual dysfunction in thyroid eye disease
Dapagliflozin shows positive impact on type 2 diabetes and non-alcoholic fatty liver disease
Gastroenterology
Dapagliflozin shows positive impact on type 2 diabetes and non-alcoholic fatty liver disease
Pre-gastroscopy maltodextrin beverage found safe with improved patient well-being
Upadacitinib shows promise as maintenance therapy for active ulcerative colitis
Genetic and Congenital
Study suggests safe use of chenodeoxycholic acid treatment in pregnant women with CTX
Trofinetide shows promise for Rett syndrome in Phase 3 study
Learn about the ABC’s of APDS, An Underdiagnosed And Progressive Primary Immunodeficiency
Growth Hormone Deficiency
Study finds varying bone density trends in adult patients with growth hormone deficiency
Moderate increase in neoplastic events in males following childhood growth hormone treatment
Study shows high healthcare costs associated with adult growth hormone deficiency
Hematology
Iron deficiency common among elderly, even in non-anemic individuals
Danicopan shows promising results in PNH clinical trial
FDA approves iptacopan as the first oral monotherapy for adults with PNH
Homozygous Familial Hypercholesterolemia (HoFH)
Key Challenges and Opportunities in Accessing Evinacumab Therapy for Patients with HoFH
New study highlights evolocumab’s potential in managing HoFH in Children
Long-term study reveals insights into homozygous familial hypercholesterolemia
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
Inherited Retinal Diseases: Recent Trial Results and Remaining Challenges
New research highlights frequency and distribution of ocular surgeries in patients with IRD
Insights into Retinitis Pigmentosa: A Case Study with Maria Sampalis, OD
Internal Medicine
Iron deficiency common among elderly, even in non-anemic individuals
Study investigates optimal window for aspirin initiation in acute stroke cases
Tirzepatide outperforms insulin lispro in treating type 2 diabetes
Interstitial Lung Disease
Pulmonary diseases emerge as leading causes of mortality in patients with anti-synthetase syndrome
Long-term survival benefit found in inhaled treprostinil treatment for pulmonary hypertension associated with IILD
Risk factors for postop acute exacerbation in patients with lung cancer with ILD identified
Lupus Nephritis
Study finds key risk factors for advanced chronic kidney disease in childhood-onset lupus nephritis
Voclosporin effective for lupus nephritis but raises safety concerns
Phase 2 TULIP-LN Trial: Anifrolumab shows efficacy in treating lupus nephritis
Managed Markets
Palliative care proven effective in enhancing quality of life for patients with chronic heart failure
Ophthalmic surgical cancellation reasons differ between county hospitals and academic centers
Contrast use in extremity sarcoma CTs raises concerns
Metabolic
Newborn screening for rare disease improves outcomes
What All Endocrinologists Should Know about Cushing disease
Recent-onset diabetes, weight loss increases risk for cancer
Nephrology
Oxalate nephropathy may be a growing threat to kidney health
High-energy, low-protein formulas show promise as meal replacements for pre-dialysis CKD patients
Novartis’ atrasentan shows promise in Phase 3 trial for IgA nephropathy
Neurology
Discontinuing high-efficacy therapy for older patients with MS raises relapse risk
Study reveals insights into cerebrovascular abnormalities in children with Alagille syndrome
DAXI emerges as promising therapy for cervical dystonia
Nonalcoholic Steatohepatitis (NASH)
Gender-specific bile acid profiles unveiled in liver diseases study
Strong connection noted between diabetes and NASH, vigilance and early screening recommended
AI pathology model outperforms human pathologists in evaluating NASH histological features
Oncology
Study identifies optimal treatment options for advanced hepatocellular carcinoma
Tailored therapy for soft tissue sarcoma: Real-world big data unveils key insights
Study finds mixed results in relationship between pazopanib exposure and liver toxicity
Ophthalmology
Dry eye symptoms common in patients with euthyroid Graves’ ophthalmopathy
Inherited Retinal Diseases: Recent Trial Results and Remaining Challenges
NIGHT study reveals insights into choroideremia progression
Primary Hyperoxaluria
Combined liver-kidney transplantation shows promise in treating oxalate bone disease in pediatric patients
Dental complications of primary hyperoxaluria: A rare but significant concern
Lumasiran effective in reducing hepatic oxalate production in primary hyperoxaluria type 1
Progressive Familial Intrahepatic Cholestasis
New findings illuminate path to distinguishing biliary atresia in infants
Maralixibat demonstrates significant improvements beyond pruritus control in PFIC study”
Long-term benefits of maralixibat in PFIC demonstrated in 2-year study
Pulmonology
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
Once-daily indacaterol acetate shows promise in pediatric asthma
Rheumatology
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
HILT and ESWT therapies show promise in osteoporotic hemiparetic patients
Sarcoma
Best of 2023: Sarcoma
Tailored therapy for soft tissue sarcoma: Real-world big data unveils key insights
Study finds mixed results in relationship between pazopanib exposure and liver toxicity
Smith-Lemli-Opitz Syndrome
From Discovery to Care: Smith-Lemli-Opitz Syndrome
Cholic acid intervention demonstrates safe and well-tolerated rise in cholesterol for SLOS
Study reveals temporal gene expression changes in SLOS mouse model, unveiling molecular insights for therapeutic strategies
Thyroid Eye Disease
Dry eye symptoms common in patients with euthyroid Graves’ ophthalmopathy
Risk of dysthyroid optic neuropathy not associated with age in patients with Graves’ orbitopathy
Study finds limited incidence of glycemic excursions in patients with TED treated with teprotumumab
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Genetic and Rare Diseases Information Center (GARD): Parasitic Diseases
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Genetic and Rare Diseases Information Center (GARD): Viral Infections
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IDSA Practice Guidelines
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National Organization for Rare Disorders (NORD): Patient Assistance Programs
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NCCN Guidelines
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American Caner Society: Rare Cancers in Adults
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CHEST Guidelines and Consensus Statements
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European Society for Medical Oncology (ESMO): Clinical Practice Guidelines for Hematological Malignancies
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Genetic and Rare Diseases Information Center (GARD): Congenital and Genetic Diseases
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Genetic and Rare Diseases Information Center (GARD): Heart Diseases
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Genetic and Rare Diseases Information Center (GARD): Metabolic Disorders
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National Organization for Rare Disorders (NORD): Patient Assistance Programs
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