Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients

Duchenne and Becker muscular dystrophy (DMD and BMD) are X-linked diseases resulting from a defect in the dystrophin gene located on Xp21. DMD is the most frequent neuromuscular disease in humans (1/3500 male newborn). Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. We have analyzed DNA from 72 Moroccan patients with DMD/BMD using the multiplex polymerase chain reaction (PCR) to screen for exon deletions within the dystrophin gene, and to estimate the frequency of these abnormalities. We found dystrophin gene deletions in 37 cases. Therefore the frequency in Moroccan DMD/BMD patients is about 51.3%. All deletions were clustered in the two known hot-spots regions, and in 81% of cases deletions were detected in the region from exon 43 to exon 52. These findings are comparable to those reported in other studies. It is important to note that in our population, we can first search for deletions of DMD gene in the most frequently deleted exons determined by this study. This may facilitate the molecular diagnosis of DMD and BMD in our country.     

Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva

Clinical Rheumatology - One of the author’s name on this article was incorrectly spelled as “Renata Borcciadi”. The correct spelling is “Renata Bocciardi” and is now...     

Adénocarcinome papillaire sur tissu thyroïdien ectopique

ObjectivesTo report a case of papillary adenocarcinoma occurring on ectopic thyroid tissue in the hyoid bone region.Material and methodsA 57-year-old patient consulted for a cervical mass appearing 1 year before, with no signs of compression. The thyroid function was normal.ResultsThe examination showed a firm tumefaction, fixed on the hyoid bone, with undetermined limits, measuring approximately 8 cm. The thyroid gland was in the normal pretracheal position. The cervical tomodensitometry objectified an osteolytic process centered on the hyoid bone with a fleshy zone of tissue density and calcifications. Cervical MRI provided a more precise assessment of the extension of the mass and confirmed the integrity of the other structures, in particular the endolarynx. The tumor was totally resected via a cervical approach. The pathologic study suggested a papillary adenocarcinoma on ectopic thyroid tissue. The treatment was completed by a total thyroidectomy with normal histological results.ConclusionsPapillary adenocarcinoma on ectopic thyroid is a very rare situation. Its diagnosis is histological. Its treatment is primarily surgical, sometimes associated with radioiodine I-131 therapy.     

Multiple paragangliomas: about two cases

The multiple paragangliomas are rare tumours, with slow evolution, posing diagnostic and therapeutic problems. The carotid and jugulo-tympanic localization are the most frequent, and the aortic localization is very infrequent. The association of two, three and four localization is possible in the multiple forms. These multiple localizations are more frequent in familial forms. Surgical removal is the first intention treatment of these tumours. In the multiple forms, the therapeutic strategy must be adapted to each case: usually, the intervention begins by the carotid localization. We report two cases of chemodectoma with multiple localizations. The first case is a 44 years-old woman, who presented a double localization: carotid (bilateral) and aortic (arch). The second case is a patient with a double aortic localization, carotid and aortic, associated to a tympano-jugular localization. Surgical treatment was performed for all these localization, except for the tympano-jugular localization, treated by embolization. The post-operative periods were uneventful. The first case had adjunctive radiotherapy.     

Abdominal aortic aneurysm and Behçet's disease: four cases

Beh?et's disease is an uncommon systemic process generally developing during the third or fourth decade of life. Recurrent inflammatory lesions are characteristic. Cardiovascular involvement, which may be arterial or venous, is rare but with particularly severe prognosis. Four cases of abdominal aortic aneurysm are reported. One patient underwent emergency surgery for acute rupture. All patients were male, age range 29-45 years, mean age 36.5 years. Three patients were followed for Beh?et's disease. Surgical revascularization was performed in all four patients, mainly with prosthetic grafts, one with patch aortoplasty. The postoperative period was complicated by paraplegia and thrombosis of the prosthetic graft in the patient who underwent emergency surgery. On the basis of these cases and cases reported in the literature, it can be concluded that morbidity and mortality are high because of the etiology underlying vascular involvement in Beh?et's disease.