Based on the literature and our own experience, we recommend ultrasound examination as a routine in infants and small children with acute abdominal pain. If a pseudotumour is diagnosed, with suspicion of an intussusception, we verify the diagnosis by an air enema, and also use this for treatment under the surveillance of fluoroscopy and a conventional blood pressure manometer. The results are encouraging.
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J Family Med Prim Care
November 2024
Pediatric Department, Jeddah, Saudi Arabia.
Celiac disease (CD) is a chronic illness. Blood testing for tissue transglutaminase antibodies is the initial screening test for the diagnosis of CD, and upper gastrointestinal endoscopy and duodenal/jejunal biopsy are used to confirm CD. Intussusception (IS) is the process in which a proximal segment of the bowel invaginates through the lumen of a distal segment.
View Article and Find Full Text PDFChilds Nerv Syst
December 2024
NJ Craniofacial Center, Morristown, NJ, 07960, USA.
Background: Goldenhar syndrome is a clinically heterogeneous disorder defined by a rare combination of congenital anomalies-an eye abnormality, in addition to two of the following three: ear anomalies, mandibular malformations, and vertebral defects. Notably, children with Goldenhar syndrome present with a high incidence of cervical spine malformations.
Clinical Case: In this report, we present an unusual case of a 15-year-old child with Goldenhar syndrome, who additionally presents with some clinical features of VACTERL syndrome.
BMJ Case Rep
December 2024
McMaster Children's Hospital/ Hamilton Health Sciences, Hamilton, Ontario, Canada.
This case report describes the clinical journey of a male patient in early childhood with developmental delay, failure to thrive, worsening right-sided head tilt torticollis and regression of motor skills with spasticity of the lower limbs. The case was complex due to the early onset and gradually worsening symptoms, including a decline in established motor milestones. Genetic testing to investigate the delayed neurodevelopment revealed a variant that did not fully explain the patient's phenotype.
View Article and Find Full Text PDFFront Cell Neurosci
November 2024
Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, United States.
Congenital ocular malformations originate from defective morphogenesis during early eye development and cause 25% of childhood blindness. Formation of the eye is a multi-step, dynamic process; it involves evagination of the optic vesicle, followed by distal and ventral invagination, leading to the formation of a two-layered optic cup with a transient optic fissure. These tissue folding events require extensive changes in cell shape and tissue growth mediated by cytoskeleton mechanics and intercellular adhesion.
View Article and Find Full Text PDFLin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
December 2024
Retrospective analysis of clinical data of 123 patients with atticotomy, exploring the clinical characteristics of patients undergoing atticotomy and the efficacy of hearing reconstruction methods. 123 patients with atticotomy were divided into three groups according to the ossicular chain treatment method: preservation of the ossicular chain group(37 cases), cartilage elevation of stapes group(49 cases), and PORP group(37 cases). The clinical characteristics of patients with atticotomy, preoperative and postoperative hearing levels of the three groups of patients, and postoperative complications were analyzed.
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