<b><i>Objective:</i></b> This study aims to investigate the association of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) and methionine synthase reductase (MTRR A66G) gene polymorphisms with neural tube defects (NTDs) in a Tunisian population. <b><i>Methods:</i></b> Genotyping was performed by polymerase chain reaction with restriction fragment length polymorphisms (PCR-RFLPs) using the restriction enzymes. Allele and genotype frequencies were compared between mothers and fathers of fetuses with NTDs with matched controls based on an association analysis using SPSS software. <b><i>Results:</i></b> MTHFR (C677T, A1298C) and MTRR A66G polymorphisms were found to be protector factors for NTD fetuses in the mother group. In addition, a combination of the three wild-type alleles C677/A1298/A66 has increased four-fold the incidence of NTDs (<i>p</i> = 0.004, OR = 3.96, 95% CI: 1.53–10.23). In the father group, MTHFR C677T was a risk factor for NTDs. However, no association was found between MTHFR A1298C, MTRR A66G, and the occurrence of this anomaly. The analysis of MTHFR C677T and MTRR A66G polymorphisms has demonstrated a significant difference in vitamin B₁₂ levels between recessive and dominant genotypes in case mothers (<i>p</i> &#x3c; 0.05). <b><i>Conclusion:</i></b> Additional studies are required to better understand the roles of parental gene polymorphisms related to folate-homocysteine metabolism in the pathogenesis of NTD.

Intercostal lung herniation is defined as a protrusion of the lung parenchyma through a defect in the intercostal muscles between adjacent ribs. The authors report a case of intercostal pulmonary hernia in a 45-year-old male patient, with smoking habit (30 packs-year), presented to the emergency department with dyspnea. He had the history of pulmonary emphysema complicated with a total right pneumothorax in 2015 treated by mini-thoracotomy with bullectomy and pleural abrasion. In 2019, he was admitted to hospital for left chest pain. The computed tomography (CT) scan of the chest revealed a bilateral emphysema with intercostal lung hernia through the fourth intercostal space the patient underwent, a left thoracotomy with repair of the intercostal muscle defect. He was discharged from hospital free of complications.

The APLNR A445C polymorphism was not associated with DR in a sample of the Tunisian population, but the CC genotype carrier patients with DR had a high TC concentration.

SUMMARYIn spite of the advances made in the technology of pacemakers which resulted in a decrease in the incidence of pacemaker lead fracture, the latter remains a potential complication of implanted pacemakers manufactured in the early days. In this report, we present a case of fracture of the unipolar electrode diagnosed by an emergency physician in a patient on a pacemaker for 10 years who presented to the emergency department with positional convulsant syncopes. BACKGROUND