Sexual maturation in Egyptian boys and girls with juvenile rheumatoid arthritis

Children with juvenile rheumatoid arthritis (JRA) exhibit a compromised growth status while information concerning the pattern of their sexual maturity is scant. The aim of the current work was to study sexual maturity in boys and girls with JRA. The study included eighty JRA patients they were 45 male and 35 female and eighty age- and sex-matched normal children served as controls. Development of genitalia was evaluated as per sexual maturity rating criteria given by Tanner score. Development of hair (pubic, axillary and facial) and age of monarch to JRA females were noted The mean (±SD) age of appearance of genitalia stage G-2 in boys with systemic onset JRA (12.0 ± 0.3 years) was earlier when compared with pauciarticular (12.60 ± 0.93 years) and polyarticular (13.39 ± 0.93 years) JRA but delayed for all types of JRA when compared with controls (10.06 ± 0.63 years). In comparison with female groups, the mean (±SD) age of appearance of genitalia stage G-2 with systemic onset JRA (12.0 ± 0.4 years) was also earlier when compared with pauciarticular (12.68 ± 1.09 years) and polyarticular (13.72 ± 0.39 years). Age of menarche delayed in all JRA female patients. None of the study group reach stage G-5 of genitalia development. The timing of initiation of sexual maturity in boys and girls with JRA delayed and this delay variable according to disease subtype.     

Identification of human herpesviruses 1 to 8 in Tunisian multiple sclerosis patients and healthy blood donors

Members of the human Herpesviridae family are candidates for representing the macroenvironmental factors associated with multiple sclerosis (MS) pathogenesis. To verify the possible role of human herpesviruses (HHVs) as triggering or aggravating factors in relapsing–remitting multiple sclerosis clinical outcome, we studied the prevalence of all eight human herpesviruses in whole blood samples collected from 51 MS patients and from 51 healthy controls. The presence of DNA of herpes simplex virus type 1 (HSV-1) and type 2 (HSV-2), varicella zoster virus (VZV), Epstein–Barr virus (EBV), human cytomegalovirus (HCMV), human herpesvirus 6 (HHV-6), human herpesvirus 7 (HHV-7) and human herpesvirus 8 (HHV-8) was searched by specific nested polymerase chain reaction. HHVs were significantly more prevalent in the blood of MS patients than in those of the controls (P < 10⁻⁴). HSV-1, HSV-2, HCMV and HHV-8 were negative in both MS patients and controls samples. In MS patients, EBV, HHV-7, HHV-6 and VZV were detected in 31.3%, 33.3%, 5.8% and 7.8% of samples, respectively, compared with 3.9%, 9.8%, 1.96% and 1.96%, respectively, of samples from controls. We found a statistically significant difference only for EBV DNA and for HHV-7 DNA prevalence (P < 0.001 and P = 0.03). Although these results indicate lack of apparent association in terms of gender, type of diagnosis, symptoms, disease score and β interferon treatment between EBV or HHV-7 to MS among Tunisian patients, heterogeneity related to genetic polymorphism as well as geographical distribution of the disease and of pathogens may be of significance.     

Vitamin D supplementation ameliorates severity of generalized anxiety disorder (GAD)

This study investigated the effects of vitamin D supplementation on Generalized Anxiety Disorder (GAD) clinical symptoms and neurochemical biomarkers including serotonin, neopterin and kynurenine. Thirty male and female patients diagnosed with GAD and had vitamin D deficiency were recruited from the psychiatric clinic at King Abdulaziz University Hospital and divided into two groups; one group of patients (n?=?15) received standard of care (SOC) plus 50,000 IU vitamin D (once/week) for 3 months, while the other group (n?=?15) received SOC alone. Biochemical parameters including serum vitamin D, serotonin, neopterin and kynurenine were measured for all patients enrolled in the trial. In addition, the Generalized Anxiety Disorder 7-item (GAD-7) scale was used to measure the severity of GAD symptoms in both vitamin D treated- and untreated-patients. Significant improvements in GAD scores were observed in the vitamin D-treated group compared to the group that did not receive vitamin D. In addition, serum serotonin concentrations were significantly increased while serum neopterin were significantly decreased in vitamin D-treated vs. untreated patients. In contrast, no significant differences were found in serum kynurenine concentrations at the end of the study period between the two groups. No changes either in GAD-7 scores or in any of the biochemical measurements were observed in the group that received only SOC after 3 months. Vitamin D supplementation was effective in ameliorating the severity of GAD symptoms by increasing serotonin concentrations and decreasing the levels of the inflammatory biomarker neopterin in GAD patients.

     

A huge cardiac hydatid cyst: An unusual cause of chest pain revealing multivisceral hydatidosis in a young woman

Hydatid disease remains endemic in some parts of the world. Cardiac hydatidosis with multivisceral involvement is uncommon but potentially fatal. We report the case of a 36-year-old Tunisian woman admitted with chest pain and T-wave inversion in the inferior leads on her electrocardiogram. Transthoracic echocardiography revealed a large hydatid cyst in the epicardium throughout the left ventricle. Thoraco-abdominal computerized tomography (CT) scan showed several hydatid cysts in the left lung, the liver, and in both breasts.After one week of albendazole treatment, surgical excision of the cardiac cyst on cardiopulmonary bypass was carried out as well as excision of the pulmonary and breast cysts. The postoperative course was uneventful and albendazole treatment was continued for six months. Though hydatid cardiac involvement is very rare, it should be considered in the differential diagnosis of atypical chest pain in young patients, especially those living in regions where hydatid disease is endemic.     

Prognostic utility of pre-transplantation [18F] fluorodeoxyglucose positron emission tomography/computed tomography in patients with diffuse large B-cell lymphoma who underwent rituximab,dexamethasone, high-dose cytarabine,carboplatin salvage chemotherapy

We analysed the outcomes of 62 patients with refractory/relapsed diffuse large B-cell lymphoma (rrDLBCL) who had pre-transplantation fluorodeoxyglucose positron emission tomography/computed tomography (PET/CT) after R-DHAC (rituximab, dexamethasone, high-dose cytarabine, carboplatin) salvage chemotherapy, and were evaluated using Deauville criteria and total lesion glycolysis (TLG). A positive pre-transplantation PET/CT with Deauville score of 5 was associated with shorter progression-free survival (PFS) (P = 0·01), while a Deauville score of 4 was not predictive of outcome. Only pre-transplant TLG was significantly associated with both PFS (P = 0·005) and overall survival (P = 0·03). TLG deserves to be further investigated in prospective studies.     

Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers

The locus for a type of an autosomal recessive non-syndromic deafness (ARND), DFNB13, was previously mapped to a 17-cm interval of chromosome 7q34-36. We identified two consanguineous Tunisian families with severe to profound ARND. Linkage analyses with microsatellites surrounding the previously identified loci detected linkage with markers corresponding to the DFNB13 locus in both families. Haplotype analyses assigned this locus to a 3.2-Mb region between markers D7S2468 and D7S2473. In order to refine this interval, we identified nine dinucleotide repeats in the 7q34 region. To investigate the polymorphism of these repeats, a population study of 74 unrelated individuals from different regions of Tunisia was carried out. Our results demonstrated that eight of the nine repeats are polymorphic. The average number of alleles at these informative loci was 9.12 with a polymorphism information content of 0.71. Little evidence for linkage disequilibrium between some marker pairs was found. Haplotype analysis using these microsatellites refined the DFNB13 interval to an area of 2.2 Mb between the D7S5377 and D7S2473. In order to identify the DFNB13 gene, we sequenced and eliminated three candidate genes. Other known and predicted genes are being screened for deafness-causing mutations.