Purpose: Transanal single-stage endorectal pull-through (TERPT) procedure for patients with Hirschsprung disease (HD) has favorable outcomes, with a lower complication rate. Nevertheless, various degrees of bowel dysfunction and fecal incontinence can persist for a long time in some patients. The aim of this study was to assess the mid- and long-term outcomes of TERPT performed during the infantile period after the completion of toilet training.
Methods: We retrospectively reviewed 82 patients aged ≥4 years who underwent TERPT during the infantile period after the pathological diagnosis of HD between 2001 and 2013. Functional outcomes were investigated according to the answers of the Bowel Function Score (BFS) questionnaire, a previously validated 7-item questionnaire about bowel habits. Normal values were obtained in a previous study on BFS for children in Western countries, and a one-sample t-test was used for statistical analysis.
Results: Overall, BFS was similar in all investigated age groups. On comparing fecal soiling and social problems between the HD and normal populations, a lower score at an early age in patients with HD was noted; however, the scores became similar when the patients were 7 years of age. Stool frequency decreased continuously but was not significantly different between the 2 groups.
Conclusion: The functional outcomes of TERPT performed during the infantile period, after completing toilet training, were similar to that of the normal population. In most cases, uncomfortable symptoms were diminished and functions improved with age.
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http://dx.doi.org/10.4174/astr.2021.101.4.231 | DOI Listing |
Rheumatology (Oxford)
January 2025
Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy.
Objectives: To assess the lung involvement in patients with Still's disease, an inflammatory disease assessing both children and adults. To exploit possible associated factors for parenchymal lung involvement in these patients.
Methods: A multicentre observational study was arranged assessing consecutive patients with Still's disease characterized by the lung involvement among those included in the AIDA (AutoInflammatory Disease Alliance) Network Still's Disease Registry.
Mol Genet Metab Rep
March 2025
Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Background: The current standard of care for infantile-onset Pompe disease (IOPD), a severe form of acid α-glucosidase enzyme activity deficiency is: (1) detection by newborn screening, (2) early initiation of intravenous enzyme replacement therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), with higher doses of rhGAA increasingly used to improve clinical outcomes, and (3) immune tolerization induction (ITI) using to prevent anti-rhGAA antibody formation, with methotrexate (MTX), rituximab, and IVIG used for patients who are cross-reactive immunologic material negative (CRIM-) and monotherapy with MTX used in patients who are cross-reactive immunologic material positive (CRIM+).
Objectives/methods: A pilot study evaluates a dose-intensive therapy (DIT) using high-dose ERT (40 mg/kg/week) and more frequent exposure to ERT (i.e.
Eur J Pediatr
January 2025
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Unlabelled: Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80-90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading to variability in neurocognitive and psychosocial outcomes among affected individuals. Despite the recognized correlation between KS and various neuropsychiatric conditions, studies investigating potential sleep disorders, particularly in pediatric subjects, are lacking.
View Article and Find Full Text PDFJ Family Med Prim Care
December 2024
Department of Ophthalmology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences (NEIGRIHMS), Shillong, Meghalaya, India.
Purpose: To determine the clinical pattern and burden of strabismus in a teaching institute of Northeast (NE) India.
Methods: In this hospital-based, cross-sectional study, detailed clinical evaluation of patients with manifest strabismus was carried out for a period of one and half years.
Results: Out of the 7222 new outpatient department attendances, a total of 110 new patients with manifest strabismus were found, with a hospital-based burden of 1.
Neoreviews
January 2025
Vascular Anomalies Center, Division of Pediatric Surgery, Children's Hospital Colorado, Aurora, Colorado.
Vascular anomalies are broadly classified into 2 categories: vascular tumors and vascular malformations. Vascular anomalies frequently present as cutaneous lesions in infants. This review summarizes vascular anomalies that most commonly present as dermatologic lesions in the neonatal period, with a focus on the clinical findings, pathophysiology and histology, relevant radiographic findings, and management of common vascular anomalies such as infantile hemangiomas, congenital hemangiomas, and Kaposiform hemangioendothelioma, along with vascular malformations, including capillary, lymphatic, venous, and arteriovenous malformations.
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