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http://dx.doi.org/10.1016/j.jcin.2025.06.010 | DOI Listing |
Mol Genet Genomic Med
September 2025
Department of Maternal-Fetal Medicine, Augusta University, Augusta, Georgia, USA.
Introduction: Spinal muscular atrophy (SMA), caused by pathogenic variants in the survival motor neuron (SMN) gene, is the most common genetic cause of mortality in children under the age of two. Prior reports of obstetric sonograms performed in pregnancies with severe forms of fetal SMA have discrepant findings that may stem from a failure to account for the SMN2 copy number.
Methods: We present a neonate diagnosed with SMA type 0 postnatally (0SMN1/1SMN2 genotype).
Medicine (Baltimore)
September 2025
Department of Anesthesiology, The First Affiliated Hospital of Traditional Chinese Medicine of Chengdu Medical College, XinDu Hospital of Traditional Chinese Medicine, Chengdu, China.
Background: With ultrasound-guided nerve block technology being increasingly used in hip surgery, the choice between fascia iliaca block (FIB) and lumbar plexus block (LPB) is still inconclusive. This study aims to evaluate the advantages and disadvantages of FIB and LPB in hip surgery.
Methods: PubMed, Web of Science, Cochrane Library, Embase, and CNKI were searched from inception to October 4, 2022.
Heart Rhythm
September 2025
Tufts Medicine CardioVascular Center, Division of Cardiology, Boston, MA.
Open Access Rheumatol
August 2025
Department of Rheumatology and Immunology, the First Affiliated Hospital, Jinan University, Guangzhou, 510632, People's Republic of China.
Objective: To evaluate the efficacy of baricitinib in combination therapy for managing refractory, rapidly progressive systemic sclerosis (SSc) with severe cardiac conduction defects and interstitial lung disease (ILD).
Methods: A 48-year-old male patient with SSc complicated by significant cardiac enlargement, third-degree atrioventricular block, heart failure, progressive ILD, and partial intestinal obstruction was included in the study. Prior treatments with mycophenolate mofetil (MMF), tacrolimus, and cyclophosphamide (CTX) had shown limited efficacy.
Eur Heart J Case Rep
September 2025
Duke University Medical Center, Division of Cardiology, Box 3182, Durham, NC 27710, USA.
Background: Genetic aetiologies of early-onset arrhythmias and cardiomyopathy (CM) are common, but timely diagnosis requires a high index of suspicion.
Case Summary: An asymptomatic 47-year-old man presented to cardiology clinic for smartwatch low-rate alarms. His brother had exertional syncope and died in his 20s from heart failure.