Publications by authors named "M Divizia"
Article Synopsis
- Cerebellar heterotopia (CH) is a rare brain abnormality with limited research, often seen alongside other cerebellar issues and syndromes, particularly in pediatric patients.
- This study analyzed a group of 32 children diagnosed with CH, categorizing them into those with isolated CH or cerebellar malformations and those with CH plus cerebral malformations.
- Findings revealed specific brain imaging patterns for CH and identified a link between certain genetic factors and developmental issues, with many affected children experiencing language delays and motor difficulties.
Hip chronic pain: ultrasound guided ablation of anterior articular branches plus posterior neurolysis of the nerve to the quadratus femoris versus the alone anterior approach-a retrospective observational study.
J Ultrasound
September 2024
Introduction: Chronic hip pain is a common painful condition in the elderly population. A mini invasive technique that is increasingly being considered for management of CHP is the percutaneous denervation of hip articular branches via radiofrequency ablation. We described a new ultrasound-guided technique based on the combination of 90° ultrasound-guided anterior radiofrequency ablation of the articular branches of femoral nerve, accessory obturator nerve and obturator nerve for anterior hip, combined with 90° ultrasound-guided ablation of the articular branches of the nerve of the quadratus femoris for posterior pericapsular neurolysis of the hip.
View Article and Find Full Text PDFIntroduction: Nowadays, whole-exome sequencing (WES) analysis is an essential part in the diagnostic pathway of individuals with complex phenotypes when routine exams, such as array-CGH and gene panels, have proved inconclusive. However, data on the diagnostic rate of WES analysis in adult individuals, negative to first-tier tests, are lacking. This is because initiatives with the aim of diagnosing rare diseases focus mainly on pediatric unsolved cases.
View Article and Find Full Text PDFAbnormalities of pubertal development and gonadal function in Noonan syndrome.
Front Endocrinol (Lausanne)
August 2023
Background: Noonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, chest deformities, cryptorchidism in males.
Methods: In this narrative review, we summarized the available data on puberty and gonadal function in NS subjects and the role of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway in fertility. In addition, we have reported our personal experience on pubertal development and vertical transmission in NS.