Publications by authors named "M N Nessib"
The changing epidemiological profile of invasive infections (IIHi) is noted in the post-vaccination era. The aim of this study was to characterize phenotypically and genotypically invasive (Hi) isolates detected in Tunisian pediatric patients. A retrospective study was conducted in the microbiology laboratory of the Children's Hospital of Tunis over ten years (2013-2023).
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- The article discusses a rare genetic abnormality involving deletions on chromosome 11, specifically between the 11q13 and 11q23 regions, which can lead to various clinical features including intellectual disabilities and malformations, though these do not consistently correlate with specific genetic patterns.* -
- The case study focuses on a 9-year-old boy exhibiting Sprengel's deformity, iris and chorioretinal coloboma, and mild motor development delay, identified to have a significant interstitial deletion on chromosome 11 through advanced genetic testing methods.* -
- The findings emphasize the variability in symptoms associated with 11q deletions and suggest that the observed deformities might not have a direct genetic link but rather could be
Purpose: Spinal deformities in patients with Spondyloepiphyseal Dysplasia congenita are particularly challenging to treat. Addressing these deformities requires a holistic surgical strategy. The aim of this case report is to highlight an original preoperative protocol combining atlantoaxial instability stabilization by halo jacket with progressive correction of a thoracic kyphoscoliosis using continuous elongation by tension plaster cast as described by Stagnara.
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- Spondylocostal dysostosis is a rare genetic disorder linked to mutations in specific genes and can manifest as spondylospinal thoracic dysostosis, which is characterized by spinal and rib defects along with multiple pterygia.
- Whole exome sequencing (WES) and Sanger sequencing were used to investigate the genetic causes in an 18-month-old girl diagnosed with this syndrome.
- The study identified a particular genetic variant and potential modifier genes that could influence the condition, suggesting that further research with larger groups is needed for confirmation.
Background: Isolated Patellar Aplasia Hypoplasia is a very rare autosomal dominant disorder. Its treatment depends on the clinical manifestations that can vary widely. The lack of active extension, which can be responsible for frequent falls due to a knee instability, is the most frequent and disabling manifestation.
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