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Dysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations-A Systematic Review.
Healthcare (Basel)
December 2024
Department of Speech Therapy, School of Health Sciences, University of Ioannina, 455 00 Ioannina, Greece.
This study presents a comprehensive investigation into the correlation between Rare Diseases and Syndromes (RDS) and the dysphagic disorders manifested during childhood and adulthood in affected patients. Dysphagia is characterized by difficulty or an inability to swallow food of any consistency, as well as saliva or medications, from the oral cavity to the stomach. RDS often present with complex and heterogeneous clinical manifestations, making it challenging to develop standardized diagnostic and therapeutic approaches.
View Article and Find Full Text PDFPrevalence of peripheral neuropathy in children with transfusion-dependent thalassemia: A hospital-based cross-sectional study.
J Family Med Prim Care
December 2024
Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India.
Background: Our study aimed to determine the prevalence of Peripheral Neuropathy (using nerve conduction studies (NCS)) in children with transfusion-dependent thalassemia aged between 5 to 18 years and to study its correlation with chronic anemia, ferritin levels, chelation status, annual transfusion requirement, deficiency of serum Vitamin B12, and Folate levels.
Methods: In this hospital-based cross-sectional study, 100 eligible children were enrolled in a tertiary care teaching hospital in New Delhi, India. Neurological examinations focusing on peripheral neuropathy followed by NCS were performed on all the patients.
Reversible Perfusion Changes during Acute Attacks in Glucose Transporter Type 1 Deficiency Syndrome: A Pediatric Case Series.
AJNR Am J Neuroradiol
January 2025
Department of Pediatric Radiology and Neuroradiology (C.D., F.A., C.P., A.R.), Children's Hospital V. Buzzi, Milan, Italy.
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is an uncommon condition represented by an infantile-onset disorder, frequently arising from heterozygous mutations in the gene. Individuals with GLUT1-DS may present with early-onset seizures (typically manifesting before 4 years of age), developmental delay, and complex movement disorders. In fewer cases, stroke-like events or hemiplegic migraine-like symptoms are also reported, defined by unilateral paresis affecting 1 side of the body and/or one-half of the face, occasionally accompanied by speech impairment.
View Article and Find Full Text PDFGonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.
Eur J Endocrinol
January 2025
Department of Paediatric Endocrinology, Erasmus University Medical Centre, 3015 GD Rotterdam, The Netherlands.
Objective: 17β-Hydroxysteroid dehydrogenase 3 deficiency (17β-HSDD) and 5α-reductase type 2 deficiency (5α-RD) are rare 46,XY differences of sex development (DSD). This study aims to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.
Design: Retrospective multicentre cohort study.
Urachal adenocarcinoma in an adolescent girl: A case report.
Int J Surg Case Rep
January 2025
Department of Surgery, Aga Khan Hospital, P.O. Box 2289, Dar Es Salaam, Tanzania; Department of Surgery, Aga Khan University, P.O. Box 38129, Dar Es Salaam, Tanzania.
Introduction: The urachus is a fetal canal that connects the allantois to the bladder and typically obliterates by the 6th month of gestation. Failure of the urachus to obliterate can result in urachal anomalies, which, in rare cases, may undergo malignant transformation.
Case Presentation: We present a case of a 13-year-old female who experienced hematuria, dysuria, and abdominal pain persisting for over 4 months.
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