Introduction: This study determined any clinical features which may help to differentiate biliary atresia (BA) from other causes of neonatal cholestasis (NC).
Materials And Methods: A prospective and observational study was conducted on consecutive infants with NC referred to the University of Malaya Medical Centre, Malaysia, between November 1996 and May 2004.
Results: The 3 most common causes of cholestasis among the 146 infants with NC studied were idiopathic neonatal hepatitis (n = 63, 43%), BA (n = 35, 24%) and congenital cytomegalovirus hepatitis (n = 13, 9%). Common clinical features at presentation were jaundice (100%), hepatomegaly (95%), splenomegaly (52%) and pale stools (47%). Three clinical features noted to be sensitive for BA were the presence of acholic or variably acholic stools on admission, a liver which was firm/hard in consistency and a palpable liver of ≥4 cm (sensitivity of 77%, 80% and 94%, respectively), but the corresponding specificity was poor (51%, 65% and 39%, respectively). The stools of 2 children with BA were pigmented initially but became acholic subsequently.
Conclusions: We did not find any single clinical feature with sufficient sensitivity and specificity to differentiate BA from other causes of NC. Repeated inspection of stools colour is necessary as occasionally, patients with BA may have initial pigmented stools. Biochemical assessment and imaging studies are important in the assessment of any infant with NC.
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Pain Ther
January 2025
Department of Medicine, Nephrology Division, University of Verona, Verona, Italy.
Introduction: Pain is one of the most frequently reported symptoms in hemodialyzed (HD) patients, with prevalence rates between 33% and 82%. Risk factors for chronic pain in HD patients are older age, long-lasting dialysis history, several concomitant diseases, malnutrition, and others. However, chronic pain assessment in HD patients is rarely performed by specialists in pain medicine, with relevant consequences in terms of diagnostic and treatment accuracy.
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January 2025
Postgraduate Program in Biochemistry, Federal University of Espírito Santo (UFES), Vitória, Espírito Santo, Brazil.
Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.
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January 2025
Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan.
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.
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January 2025
Department of Rheumatology and Immunology, The First Affiliated Hospital of Naval Medical University, Shanghai, 200433, China.
Objective: Retroperitoneal fibrosis (RPF) is a rare condition marked by inflammation and fibrosis affecting the peritoneal and retroperitoneal soft tissues. In recent years, the identification of IgG4-related diseases has brought to light a significant association with fibrous disorders, including RPF, which were once considered independent. In this comprehensive cohort study, we performed a comparative analysis of the demographic, clinical, laboratory, histopathological, and therapeutic characteristics between patients with IgG4-related RPF and those with idiopathic retroperitoneal fibrosis (iRPF).
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January 2025
Cardiovascular Research Center, Rajaie Cardiovascular, Medical, and Research Center, University of Medical Sciences, Tehran, Iran.
Assessing myocardial viability is crucial for managing ischemic heart disease. While late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) is the gold standard for viability evaluation, it has limitations, including contraindications in patients with renal dysfunction and lengthy scan times. This study investigates the potential of non-contrast CMR techniques-feature tracking strain analysis and T1/T2 mapping-combined with machine learning (ML) models, as an alternative to LGE-CMR for myocardial viability assessment.
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