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Hind Bouguerra Elyes Boutouria Mokhtar Zorraga Amal Cherif Rihab Yazidi Naima Abdeddaiem Latifa Maazaoui Awatef ElMoussi Salma Abid Slim Amine Leila Bouabid Souha Bougatef Mohamed Kouni Chahed Afif Ben Salah Jihene Bettaieb Nissaf Bouafif Ben Alaya 《Influenza and other respiratory viruses》2020,14(5):507-514
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Rihab M. Salih Esraa A. Mohammed Amal M. Alhashem Sarar Mohamed Aida I. Al-aqeel 《Saudi medical journal》2020,41(2):199
Objectives:To draw attention towards fructose-1,6-bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic acidosis and to implement preventive strategies.Methods:This observational, cross-sectional study was conducted on 7 Saudi patients with genetically confirmed FBPase deficiency from 2008 to 2018 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia.Results:Participants ranged in age from 1-10 years, and all presented with recurrent hypoglycemia. All but one had associated severe metabolic acidosis, and 3 patients (42.9%) presented with hypoglycemia and severe acidosis since birth. The mean duration from presentation to diagnosis was 39.4 months, as other diagnoses, like glycogen storage diseases and mitochondrial diseases needed to be ruled out. Development was normal apart from speech delay in one patient with a novel variant of the FBP1 gene. All patients have homozygous variants in the FBP1 gene.Conclusion:Fructose-1,6-bisphosphatase is an important cause of hypoglycemia and acidosis; therefore, it is important to offer early molecular diagnostics in any child presenting with these symptoms. Molecular diagnostics should always be undertaken to confirm the diagnosis and for further preventive strategies. 相似文献
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Bakhatar A Yazidi AA el Meziane A Bartal M Benslama A Moutaouakkil S 《Revue des maladies respiratoires》1999,16(6):1161-1163
The etiology of the respiratory distress syndrome is dominated by pulmonary edema and the septic shock. We report a rare etiology of a respiratory distress secondary to a rupture of a well treated tuberculous latero-tracheal adenopathy. A 24-year-old woman was treated a year ago for a peripheral and mediastinal lymph node tuberculosis confirmed by the biopsy of a left supra clavicular adenopathy, by two months of isoniazid-rifampicin-pyrazinamide-ethambutol and seven months of isoniazid-rifampicin. The patient completed 9 month treatment with a good clinical and radiology course. Two months after stopping the antibacillary treatment, the patient was admitted to an intensive care unit with a respiratory distress syndrome requiring both intubation and artificial ventilation. The bronchial aspiration brought back plain pus. The telethorax from admission was normal and the retrospective history suggested the diagnostic of a ganglio-bronchial fistula which was confirmed by bronchial fibroscopy demonstrating right latero-tracheal fistula. The course was good with recovery of consciousness on the seventh day. Direct bacilloscopies and culture were negative. The digestive fibroscopy was normal. Finally, fistulization of a tuberculous adenopathy must be considered among the etiologies of respiratory distress even in a patient appropriately treated for mediastinal lymph node tuberculosis. 相似文献
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