Publications by authors named "Radia Fritih"
We report a case of right upper limb ischaemia diagnosed at birth in a neonate whose mother had presented with paucisymptomatic COVID-19 four weeks previously. Typical causes were investigated and excluded. Maternal morbidity and mortality resulting from COVID-19 during pregnancy is well recognised and documented, however, foetal and neonatal complications are increasingly being reported.
View Article and Find Full Text PDFBackground: Observations of vertical transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection from mother to fetus have recently been described in the literature. However, the consequences of such transmission, whether fetal or neonatal, are poorly understood.
Methods: From a case of in utero fetal death at 24+2 weeks of gestation that occurred 7 days after the diagnosis of symptomatic SARS-CoV-2 infection in the mother, we isolated the incriminating virus by immunochemistry and molecular techniques in several fetal tissues, with a variant analysis of the SARS-CoV-2 genome.
The use of videoconferencing had increased significantly during lockdown. During this period, videoconferencing has been used in the pathological department of pathology (Timone university hospital, Marseille, France) for academic, diagnosis and referral. We provide our point of view regarding the use of this tool.
View Article and Find Full Text PDFDiffuse gliomas with MYB or MYBL1 alterations are rare tumours mostly affecting children or young adults with long-term epilepsy. This category of glioma includes two morphological subtypes. The angiocentric subtype is characterized by an angiocentric pattern of growth and a frequent MYB:QKI fusion.
View Article and Find Full Text PDFArticle Synopsis
- Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a rare genetic disorder causing severe abdominal swelling, a small colon, and reduced movement in the intestines, often linked to mutations in the ACTG2 gene.
- Recent findings have also identified additional mutations in other genes such as MYH11, MYLK, and a potential new gene PDCL3 that may be involved in the condition.
- Research on five patients revealed multiple genetic variants, including a complete absence of PDCL3 expression in affected individuals, suggesting it plays an important role in the disorder due to its involvement in smooth muscle contractility.