Publications by authors named "N Soyah"
Introduction: Meningitis is a potentially life threatening illness. It requires prompt diagnosis and treatment. Recurrent meningitis needs detailed investigations to identify the underlying cause.
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- Angelman syndrome (AS) is linked to genetic issues on chromosome 15, but the exact genetic causes are not fully understood for some patients.
- The study aimed to explore the role of a specific gene in AS and use exome sequencing to identify new potential genes involved in the syndrome.
- Researchers found seven variants, including three novel ones, and identified 22 genes that may relate to AS-like conditions, suggesting new paths for genetic counseling and diagnosis confirmation.
Introduction: Bacillus Calmette Guerin (BCG) vaccine, which is administered to all newborns in Tunisia, can lead to serious complications ranging from local disease to disseminated disease in a group of patients with primary immunodeficiency diseases.
Case Report: A 3-month-old boy presented with persistent fever, hepato-splenomegaly and multiple osteolytic lesions. He was diagnosed with severe combined immunodeficiency disease and disseminated BCG infection.
Recently, an autosomal recessive disorder including the triad of microcephaly, infantile epileptic encephalopathy, and permanent neonatal diabetes syndrome (MEDS, OMIM#614231) has emerged as a new distinguishing syndrome. Eight cases of whom seven from Arab countries, have been reported in association with biallelic variants in the IER3IP1 gene (Immediate early response-3 interacting protein-1). Here, we describe a Tunisian boy who presented with permanent neonatal diabetes, microcephaly, generalized seizures and hypovirilized external genitalia consisting of a small genitalia and unilateral cryptorchidism.
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