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Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.
Front Pharmacol
January 2025
Respiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant case of an 8-month-old boy who presented with progressively worsening dyspnea, along with intermittent episodes of respiratory distress and cyanosis since birth.
View Article and Find Full Text PDFPresentation and outcome of Alagille syndrome in paediatric patients at State Academic Hospital in South Africa.
Sudan J Paediatr
January 2024
Department of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder in which patients may have characteristic facial features and involvement of the liver, heart, vessels, bones, eyes, kidneys and central nervous system. As there is little published data on ALGS in Africa, our aim was to describe the presentation and outcomes of ALGS in South Africa. The study constitutes a retrospective analysis of 25 patient medical records diagnosed as ALGS at Chris Hani Baragwanath Academic Hospital Pediatric Gastroenterology clinic between January 1992 and January 2020.
View Article and Find Full Text PDFThe effect of STI screening during pregnancy on vertical transmission of HIV and adverse pregnancy outcomes in South Africa: a modelling study.
J Int AIDS Soc
February 2025
Centre for Integrated Data and Epidemiological Research, School of Public Health, University of Cape Town, Cape Town, South Africa.
Introduction: Sexually transmitted infections (STIs) in pregnancy are associated with an increased risk of vertical HIV transmission and adverse pregnancy and birth outcomes. In South Africa, syndromic management is the standard of care for STI management. We assessed the potential impact of point-of-care (POC) screening for curable STIs (Chlamydia trachomatis [CT], Trichomonas vaginalis [TV] and Neisseria gonorrhoeae [NG]) during pregnancy on vertical HIV transmission and adverse pregnancy and birth outcomes.
View Article and Find Full Text PDFThe efficacy analysis of robotic versus laparoscopic ipsilateral uretero-ureterostomy for upper urinary tract duplications in pediatric population.
Pediatr Surg Int
January 2025
Department of Pediatric Surgery, First Affiliated Hospital, Zhengzhou University, Zhengzhou, 450052, China.
Objective: To review and compare robot-assisted ipsilateral ureteroureterostomy (RALUU) and laparoscopic ipsilateral uretero-ureterostomy (LUU) in terms of efficacy and outcomes.
Methods: Clinical data of 65 children with complete renal ureteral duplication deformity admitted to the First Affiliated Hospital of Zhengzhou University from January 2015 to December 2022 were collected. Among these, 42 patients underwent laparoscopic ureteroureterostomy (LUU), designated as the LUU group, while 23 patients received robot-assisted laparoscopic ureteroureterostomy (RALUU), designated as the RALUU group.
Introduction: China implemented a dynamic zero-COVID strategy to curb viral transmission in response to the coronavirus disease 2019 (COVID-19) pandemic. This strategy was designed to inhibit mutation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus responsible for COVID-19. This study explores the dynamics of viral evolution under stringent non-pharmaceutical interventions (NPIs) through real-world observations.
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