Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia

Duplications of the long arm of the X chromosome are rare. The infantile phenotype shares some resemblance with the Prader-Willi syndrome, presenting severe psychomotor retardation, facial dysmorphic features with a broad face, a small mouth and a thin pointed nose, hypotonia, urogenital malformation and proneness to infections. We report a boy with an additional Xq27-qter chromosome segment translocated onto the short arm of chromosome 3. The karyotype was 46,XY,der(3)t(X;3)(q27.3; p26.3)mat. This cryptic unbalanced X-autosome translocation resulted in Xq27-qter functional disomy and a deletion 3p26.3. A detailed analysis of the constitutional chromosomal changes in the patient was performed using array-CGH, FISH and PCR. The aim was to characterize the size and the location of the duplication Xq27-qter (8.18 Mb) and of the deletion 3p26.3 (1.05 Mb), to establish phenotype-genotype correlations and to offer genetic counselling.     

Takayasu arteritis with coronary aneurysms causing acute myocardial infarction in a young man

Takayasu arteritis is an inflammatory condition that involves the large cardiac vessels, predominantly the aorta and its main branches. It typically affects young women (age, ≤40 yr), most often Asians and Latin Americans. Herein, we describe a rare manifestation of Takayasu arteritis in a 19-year-old black Tunisian man who presented with acute inferior myocardial infarction and complete atrioventricular block after occlusion from a giant aneurysm in the right coronary artery. The coronary artery disease was associated with aneurysmal dilations in the carotid, vertebral, and right renal arteries. Medical therapy improved Thrombolysis in Myocardial Infarction flow in the area of the giant aneurysm from grade 1 to grade 3. Upon the diagnosis of Takayasu arteritis, intravenous methylprednisolone and oral prednisone therapy was started. After 10 days of hospitalization, the patient was discharged on a medical regimen. Renovascular hypertension due to renal artery stenosis was suspected, so he underwent successful percutaneous transluminal angioplasty of the inferior segmental artery of the right renal artery. During 12 months of close postprocedural monitoring, he experienced lower blood pressure, no chest pain, and no cardiovascular complications.This association of conditions has not been previously reported. Besides presenting this very rare combination of findings, we discuss the differential diagnosis of Takayasu arteritis in our patient.     

Fibrodysplasia ossificans progressiva: diagnosis and surgical management

Fibrodysplasia (or Myositis) Ossificans Progressiva (FOP) is a rare genetic disease with variable expression, characterized by the association of congenital anomalies of the toes and fingers and progressive appearance of ectopic bone within the skeletal muscles, often following a trauma or an infection. FOP initially affects the nape and thoracic paravertebral muscles. With age, there is a progression of ossifications to other muscular groups following a proximodistal and cranio-caudal extension. Patients develop a restrictive respiratory insufficiency with atelectasis. The diagnosis of FOP is clinical and does not require biopsy. Circumscribed post-traumatic ossifying myositis is the most important differential diagnosis. It is characterized by the appearance of painful ossifications, in young adults, following a trauma and is limited to one localisation. The conservative treatment of FOP remains unsatisfactory. Surgical removal of osteomas to restore joint mobility leads to the development of additional heterotopic ossifications. Each surgical attempt brings about a quasi-inevitable recurrence. Anaesthesia of patients with FOP is difficult because of spinal rigidity and ankylosis of the jaw. Surgery is indicated only with a focused indication to correct an invalidating deformity.     

Single autologous stem-cell transplantation followed by maintenance therapy with thalidomide is superior to double autologous transplantation in multiple myeloma: results of a multicenter randomized clinical trial

From April 2003 to December 2006, 195 patients with de novo symptomatic myeloma and younger than 60 years of age were randomly assigned to receive either tandem transplantation up front (arm A, n = 97) or one autologous stem-cell transplantation followed by a maintenance therapy with thalidomide (day + 90, 100 mg per day during 6 months) (arm B, n = 98). Patients included in arm B received a second transplant at disease progression. In both arms, autologous stem-cell transplantation was preceded by first-line therapy with thalidomide-dexamethasone and subsequent collection of peripheral blood stem cells with high-dose cyclophosphamide (4 g/m(2)) and granulocyte colony stimulating factor. Data were analyzed on an intent-to-treat basis. With a median follow-up of 33 months (range, 6-46 months), the 3-year overall survival was 65% in arm A and 85% in arm B (P = .04). The 3-year progression-free survival was 57% in arm A and 85% in arm B (P = .02). Up-front single autologous transplantation followed by 6 months of maintenance therapy with thalidomide (with second transplant in reserve for relapse or progression) is an effective therapeutic strategy to treat multiple myeloma patients and appears superior to tandem transplant in this setting. This study was registered at www.ClinicalTrials.gov as (NCT 00207805).     

Phenotypic and genotypic detection of extended spectrum β-lactamases among Escherichia coli and Klebsiella pneumoniae isolates from type 2 diabetic patients with urinary tract infections

BackgroundT2DM patients are more likely to have UTIs caused by resistant organisms such as ESBLs producing bacteria. Challenging reliable identification and prompt characterization of in-vitro susceptibilities of these bacteria are the first steps of deciding the appropriate antimicrobial therapy for UTIs caused by them.ObjectivesTo isolate and identify E. coli and K. pneumoniae from urine of T2DM patients with UTIs, to determine antibiotic resistance pattern among isolates, and to identify ESBLs production phenotypically and genotypically.Material and methodAll samples were cultured on Cystine-Lactose-Electrolyte-Deficient Agar medium (CLED) by using calibrated loop. Growth of 100 colonies or more, i.e. 105 colony forming units (CFU)/mL urine was considered as significant bacteriuria. Isolation and identification were done according to standard method. All isolates were tested for antibiotic susceptibility testing by the disc diffusion method according to CLSI guidelines. Phenotypic detection of ESBLs was done by double-disk synergy test. Genotypic detection of blaTEM, blaSHV and blaCTX-M genes by using PCR.ResultsResults of this study showed that E. coli and K. pneumoniae were the dominant bacterial isolates, they constituted 103 (91.2%) out of 113 urine isolates. E. coli (58. 4%) K. pneumoniae (32.7%), Enterococcus spp. (4.4%), Proteus spp. (2.7%) and Pseudomonas spp. (1.8%). About 25 (24.3%) out of 103 E. coli and K. pneumoniae isolates were ESBLs positive by DDST, and 22 (88.0%) out of them had ESBLs encoding genes by conventional PCR. The most common gene detected was blaTEM (59.1%), followed by blaSHV (27.3%). CTX-M had not been detected in any of testes isolates.ConclusionblaTEM and blaSHV genes were detected in 22 out of 25 ESBLs producing E. coli and K. pneumoniae isolates phenotypically detected by DDST. blaTEM was found to be the predominant gene (59.1%), while blaCTX-Mene was not detected in any of tested isolates.     

Factor V deficiency and pregnancy: a case report

The factor V deficiency is a very rare hereditary disease of the coagulation, which is accompanied by a high hemorrhagic risk in the event of delivery and in the post-partum. We report the case of a woman having a factor V deficiency which had a pregnancy, and which gave birth by Cesarean, as replacement therapy we proposed the transfusion of 20?mL/kg of fresh frozen plasma before surgery and of 5?mL/kg by 12?h during 7 days in post-partum, this attitude allowed to avoid the hemorrhagic complications.     

Molecular cytogenetic study of derivative chromosome 9 deletion in chronic myeloid leukemia patients

The aims of this study are to investigate the frequency of derivative chromosome 9 (der (9)) deletion in Tunisian patients with chronic myeloid leukemia (CML) and to assess the correlation between this deletion and the cytogenetic response for patients treated with hydroxyurea (HU) or imatinib (IM). Karyotype analysis of 336 patients with CML was performed with R-banding technique. Fluorescence in situ hybridization (FISH) was carried using home-brew probes 17L7 and 248J22 for detecting, respectively, adjacent 5??ABL and 3??BCR deletions on der(9). Cytogenetic study demonstrated typical t(9;22)(q34;q11) translocation in 89.6% and variant translocation in 10.4% of patients. Interphase FISH studies showed deletion of der(9) in 59 (17.6%) of the 336 patients, 23 (39%) of them had variant rearrangements. There are 19 patients with solely 5??ABL deletion and 40 with concomitant 5??ABL and 3??BCR deletions. Cytogenetic response was evaluated during 18?months with HU or IM therapy. Our results demonstrate that (a) 3??BCR deletion is associated with 5??ABL deletion in all patients with der(9) deletions, (b) the 5??ABL and 3??BCR deletions arise simultaneously with t(9;22), (c) deletions on der(9) chromosome were frequently encountered in older patients and in patients presenting variant rearrangements, (d) both 5??ABL and 3??BCR deletions were associated with cytogenetic response failure in patients treated with HU, however, patients treated with IM and carrying der(9) deletions presented better cytogenetic response.