Stüve-Wiedemann syndrome is a rare bone dysplasia with dysautonomic manifestations. Most patients die in the neonatal period or during infancy because of the multiple complications they present. The main ophthalmological complications reported are reduced corneal reflex, corneal anesthesia, hypolacrimation, and severely reduced blinking. We are going to present the first tarsoconjunctival flap in a Stüve-Wiedemann patient, the surgery, and the results in a 13-year-old patient that came to our hospital because of severe corneal ulceration.
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http://dx.doi.org/10.4103/IJO.IJO_3260_22 | DOI Listing |
Cell Rep
January 2025
Department of Neurological Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA; The Brain Tumor Center, Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:
Mutation or deletion of the deubiquitinase USP7 causes Hao-Fountain syndrome (HAFOUS), which is characterized by speech delay, intellectual disability, and aggressive behavior and highlights important unknown roles of USP7 in the nervous system. Here, we conditionally delete USP7 in glutamatergic neurons in the mouse forebrain, triggering disease-relevant phenotypes, including sensorimotor deficits, impaired cognition, and aggressive behavior. Although USP7 deletion induces p53-dependent neuronal apoptosis, most behavioral abnormalities in USP7 conditional knockout mice persist following p53 loss.
View Article and Find Full Text PDFRheumatology (Oxford)
January 2025
Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.
Nutr Rev
January 2025
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan 610041, China.
Context: The efficacy of probiotics and diet management in irritable bowel syndrome (IBS) is controversial, and their relative effectiveness remains unclear.
Objective: This study aimed to evaluate the effects of probiotics, diet management, and their combination on IBS.
Data Sources: PubMed, Embase, Cochrane, and Web of Science were searched from inception to July 10, 2023, for relevant studies, including symptom relief, IBS-symptom severity score (-SSS), and IBS-quality of life measure (-QOL).
Pediatr Nephrol
January 2025
Pediatric Nephrology Services, Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India.
Background: Limited research exists regarding the genetic profile, clinical characteristics, and outcomes of refractory rickets in children from India.
Methods: Patients with refractory rickets aged ≤ 18 years were enrolled. Data regarding clinical features, etiology, genotype-phenotype correlation, and estimated glomerular filtration rate (eGFR) were recorded.
J Pediatr Psychol
January 2025
The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States.
Objective: Pediatric brain tumor survivors (PBTS) are at risk for neurocognitive late effects that can resemble symptoms of cognitive disengagement syndrome (CDS). In the current study, we compared the CDS symptoms of PBTS to those of healthy comparison classmates (CC) and examined whether CDS might explain group differences in depressive symptoms. We also explored whether CDS symptoms were associated with engagement-based coping strategies and stress responses, thereby testing one mechanism by which CDS could lead to affective difficulties.
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