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Alagille Syndrome
Study finds high prevalence of sarcopenia in children with genetic intrahepatic cholestasis
Long-term benefits of maralixibat in PFIC demonstrated in 2-year study
Surgical biliary diversion in Alagille syndrome raises concerns
Autoimmune
Low-dose interleukin-2 shows promise in treating autoimmune rheumatic diseases
Filgotinib shows consistent efficacy in rheumatoid arthritis, regardless of BMI changes
Treatment-to-target approach effective in reducing pain levels in juvenile idiopathic arthritis
Cardiology
Innovative telehealth program shows promise in addressing health inequities post-stroke
Could climate-change lead to an increase in cardiovascular-related deaths?
Renal artery contrast-enhanced ultrasound effective in diagnosing, assessing renal artery disease
Endocrinology
Ocular injuries cause significant burden to deployed US service members
New model predicts the course of inactive thyroid eye disease
Tirzepatide outperforms insulin lispro in treating type 2 diabetes
Gastroenterology
Pre-gastroscopy maltodextrin beverage found safe with improved patient well-being
Upadacitinib shows promise as maintenance therapy for active ulcerative colitis
Single-use duodenoscope shows promise in endoscopic retrograde cholangiopancreatography procedures
Genetic and Congenital
Trofinetide shows promise for Rett syndrome in Phase 3 study
Learn about the ABC’s of APDS, An Underdiagnosed And Progressive Primary Immunodeficiency
Algorithm drastically cuts diagnostic time for Gaucher disease
Growth Hormone Disorders
Pediatric endocrinologists embrace once-weekly somatrogon as preferred treatment for growth hormone deficiency
Link found between short stature, growth hormone therapy, and scoliosis
Weekly growth hormone replacement therapy may have metabolic benefits
Hematology
GVHD incidence holds steady at 1% in U.S. liver transplant recipients
Study identifies key risk factors for thromboembolic events in patients with PNH
FDA accepts BLA application for Genentech’s rare blood condition treatment
Industry News
Quiz: Challenges in Conducting Rare Disease Clinical Trials
Ipsen to acquire Albireo accelerating growth in rare disease with treatments for several pediatric liver diseases
Amgen to buy Horizon Therapeutics
Infectious Diseases
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
New proposed framework assesses preventive interventions in rare transmissible diseases
Inherited Retinal Diseases
Insight into RP2-associated retinopathy reveals varied manifestations in female carriers
Cataract surgery in eyes with retinitis pigmentosa is safe with heightened risk of cystoid macular edema
Sickle cell retinopathy study offers key insights into inherited retinal conditions
Internal Medicine
Tirzepatide outperforms insulin lispro in treating type 2 diabetes
Negative pressure wound therapy outperforms alginate dressings in diabetic foot ulcer treatment
Can probiotics enhance kidney function in sepsis-induced AKI
Interstitial Lung Disease
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
Quiz: Laboratory Findings in Interstitial Lung Disease
Lupus Nephritis
Phase 2 TULIP-LN Trial: Anifrolumab shows efficacy in treating lupus nephritis
High frailty prevalence and disability in women with systemic lupus erythematosus
Hydroxychloroquine non-adherence linked to increased risks of flares, mortality in SLE
Managed Markets
Contrast use in extremity sarcoma CTs raises concerns
New codification system shows promise in accurately identifying rare diseases
Low rates of skin cancer screening found among US volunteer firefighters
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
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
Piperacillin-tazobactam appears safe for kidney health in hospitalized adults
Neurology
Retinal abnormalities show promise as non-invasive diagnostic tool for dementia
Botulinum toxin injections show promise in treating essential head tremor
Trofinetide shows promise for Rett syndrome in Phase 3 study
Oncology
Stereotactic ablative radiation therapy shows promise in treating extracranial sarcoma metastases
Symptom burden is significant in young adults with cancer in the year post-diagnosis
Lenvatinib outperforms sorafenib in treating hepatocellular carcinoma
Ophthalmology
Retinal abnormalities show promise as non-invasive diagnostic tool for dementia
Study explores viability of optometric glaucoma care
Ocular injuries cause significant burden to deployed US service members
Optometry
Study explores viability of optometric glaucoma care
Myopia Management: Transformations Over the Past Decade Part 2
Myopia Management: Transformations Over the Past Decade Part 1
Primary Hyperoxaluria
Advancing the Understanding of Primary Hyperoxaluria: Insights from Two Compelling Case Reports
Anxiety over recurrent stone events, kidney failure high in patients with primary hyperoxaluria
High morbidity and mortality rates found in patients with advanced PH1
Progressive Familial Intrahepatic Cholestasis
Maralixibat demonstrates significant improvements beyond pruritus control in PFIC study”
Long-term benefits of maralixibat in PFIC demonstrated in 2-year study
Study identifies predictors of long-term outcomes in rare liver disease
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
Quiz
Quiz: Understanding Epithelioid Sarcoma and Pathology
Experience Counts: Why Experienced Providers are Needed in Epithelioid Sarcoma Treatment
Treatment Options for Smith-Lemli-Opitz Syndrome
Rheumatology
Filgotinib shows consistent efficacy in rheumatoid arthritis, regardless of BMI changes
HILT and ESWT therapies show promise in osteoporotic hemiparetic patients
Rheumatoid arthritis increases risk of DED, corneal surface damage
Sarcoma
Stereotactic ablative radiation therapy shows promise in treating extracranial sarcoma metastases
Quiz: Understanding Epithelioid Sarcoma and Pathology
Experience Counts: Why Experienced Providers are Needed in Epithelioid Sarcoma Treatment
Smith-Lemli-Opitz Syndrome
Top 10 Things to Know About Smith-Lemli-Opitz Syndrome
What role do statins have as a potential therapy for Smith-Lemli-Opitz syndrome?
From Discovery to Care: Dr. Ellen Elias Sheds Light on Smith-Lemli-Opitz Syndrome
Thyroid Eye Disease
Audit reveals lower Graves’ orbitopathy incidence after radioactive iodine treatment for Graves’ disease
New model predicts the course of inactive thyroid eye disease
Unique clinical patterns emerge in pediatric thyroid eye disease cases
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Ronald M. Laxer, MDCM, FRCPC, addresses rheumatologic disease ‘masquerading’ as infection
Infectious Diseases
Musculoskeletal/Rheumatology
Video
Ronald M. Laxer, MDCM, FRCPC, addresses rheumatologic disease ‘masquerading’ as infection
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