De novo trisomy 20p of paternal origin

We report on a case of a de novo trisomy 20p in a 5-year-old boy. The patient presented with dysmorphic features, mental retardation, poor coordination, cardiac malformation, kyphosis, hypospadias, cryptorchidism, and preaxial hexadactyly. No growth delay was noticed. Standard karyotype and FISH techniques allowed the characterization of the chromosome rearrangement showing a duplication spanning almost the whole short arm of chromosome 20. Therefore the karyotype was interpreted as 46,XY,der(20)(pter --> q13.3::p11.2 --> pter). Molecular studies identified the duplication of paternal origin. This is one of the rare reports with almost pure trisomy 20p characterized at the molecular level. Its phenotype is compared to other similar cases described in the literature.     

High-dose therapy and autologous stem cell transplantation for Hodgkin's lymphoma in relapse or failure after initial chemotherapy : results of the Centre National de Greffe de Moelle Osseuse de Tunis

AIM: In the present study we report the clinical outcome of 27 patients with refractory or relapsed Hodgkin's lymphoma (HL) undergoing autologous peripheral stem-cell transplantation (ASCT). METHODS: On transplant, 18 patients had sensitive disease (SD) and 9 resistant disease (RD). The median time between diagnosis and ASCT was 18 months (range, 7 to 96 months). The conditioning consisted of BEAM regimen. RESULTS: The 100-day mortality rate was 3%. Three months after transplant, 12 patients transplanted with SD were in complete remission (CR) and only one of the 9 patients transplanted with RD achieved CR. Overall survival and disease-free survival after 3 years were 68% and 60%, respectively. CONCLUSION: the present results confirm the efficacy and safety of the ASCT in refractory or relapsed HL patients with SD. Other strategies should be investigated for patients with RD.     

Chronic gastritis in children

BACKGROUND: Active gastritis, atrophic gastritis (AG) and intestinal metaplasia are lesions associated with Helicobacter pylori (H. pylori) infection in adults. AIM: To assess the prevalence of chronic gastritis, its histological characteristics and clinical features in children. METHODS: 345 children (M/F: 151/194, mean age: 8.6 +/- 3.7 years; range: 1-18 years) were enrolled, referred for upper gastrointestinal endoscopy (UGI endo) with clinical manifestations of gastritis, i.e., recurrent abdominal pain (n = 232, 67.2%), upper gastrointestinal bleeding (n = 59, 17.1%) and miscellaneous (n = 53, 15.3%). Four perendoscopic gastric biopsy specimens (antrum: 2, fundus: 2) were taken. Biopsies were assessed and graded according to the updated Sydney system. H. pylori infection was considered if 2 out 3 tests were positive (culture, histology and rapid urease test), whereas 3 concordant negative results identified H. pylori negative children. RESULTS: H. pylori infection and chronic gastritis were detected in 215/345 (62.3%) (M/F: 104/117, sex ratio M/F = 0.89) and 221/345 (64.05%) children, respectively. Recurrent abdominal pain (n = 149, 67.4%) was the main clinical features of chronic gastritis followed by vomiting (n = 43, 19.5%) and upper gastrointestinal bleeding (n = 41, 18.6%). Any clinical features were however found to be specific. UGI endo showed; nodular gastritis (n = 90, 40.72%), congestive gastritis (n = 84, 38%), gastric ulcer (n = 9), bulbar ulcer (n = 5) and normal (n = 47, 21.2%). Chronic gastritis was active in 115 cases (52%) and was significantly associated with nodular gastritis (p < 0.05). Thirty two chronic gastritis (14.4%) exhibited AG (M/F: 16/16, mean age: 9.4 +/- 3.4 years) and 30/32 (93.7%) were H. pylori positive. AG was significantly associated with H. pylori infection (p < 0.0001) and nodular gastritis (p < 0.005). Active, follicular and AG were significantly associated with H. pylori infection (p < 0.00001). Three patients exhibited intestinal metaplasia. CONCLUSION: Chronic gastritis is frequent in children. Any clinical features were found to be specific. It significantly associated H. pylori infection and nodular gastritis. Atrophic gastritis was found in 14.5% of children.     

Altered synchrony of right ventricular contraction in borderline pulmonary hypertension

Imaging studies have shown that pulmonary hypertension (PH) is associated with inhomogenous right ventricular (RV) regional contraction, or dyssynchrony, and that this is of prognostic relevance. This study aimed at the identification and functional significance of RV dyssynchrony in borderline PH defined by a mean pulmonary artery pressure between (mPAP) 20 and 25 mmHg. RV dyssynchrony was measured by 2-dimensional speckle tracking echocardiography in 17 patients with pulmonary arterial hypertension (PAH), 13 patients with borderline PH and 14 controls. Dyssynchrony was defined as the R-R interval-corrected standard deviation of the times to peak-systolic strain for the basal and medium segments of the RV. All the PH patients underwent a right heart catheterization. RV dyssynchrony amounted to 69?±?34 ms in PAH, 47?±?23 ms in borderline PH and 8?±?6 ms in controls, all different from each other (p?<?0.05). RV dyssynchrony in borderline PH was the only parameter of RV systolic dysfunction in 11 of 13 (85%) of the patients. RV dyssynchrony was accompanied by postsystolic shortening and correlated to RV fractional area change, not to mPAP or pulmonary vascular resistance. RV dyssynchrony occurs in borderline PH and may reflect early RV-arterial uncoupling.     

Polymorphisms of the human platelet alloantigens HPA-1, HPA-2, HPA-3, and HPA-4 in ischemic stroke

Polymorphism in human platelet antigen (HPA)-1 and HPA-3 (GPIIb/IIIa), HPA-2 (GPIb/IX), HPA-4 (GPIIIa), and HPA-5 (GPIa/IIa) was investigated in 329 stroke patients and 444 matched control subjects. HPA genotyping was done by PCR-SSP method. Lower HPA-1a (P < 0.001) and higher HPA-1b (P < 0.001) allele frequencies were seen in patients than control subjects, and homozygosity for HPA-1b (P < 0.001) alleles was more prevalent in stroke cases than in controls. The allele and genotype distributions of the other HPA polymorphic variants were similar between cases and controls. Select HPA combined genotypes comprising the 2121 (Pc = 0.008) and 2221 (Pc = 0.018) genotypes, which were positively associated, and the 1111 (Pc < 0.001), which was negatively associated with stroke, thereby conferred a disease susceptibility and protective nature to these genotype combinations. Multivariate analysis confirmed the negative association of the 1111 (P < 0.001) and the positive association of the 2121 (P = 0.017) combined genotypes with stroke, after adjustment for a number of covariates. This is the first evidence demonstrating differential association of the common 4 HPA gene variants and specific HPA genotype combinations with stroke.     

Serum levels of zinc and copper in epileptic children during long-term therapy with anticonvulsants

Objective:

To evaluate the serum levels of zinc and copper in epileptic children during the long-term treatment of anticonvulsant drugs and correlate this with healthy subjects.

Methods:

A hospital-based group matched case-control study was conducted in the Department of Pediatrics, Faculty of Medicine, Zagazig University, Zagazig, Egypt between November 2013 and October 2014. Ninety patients aged 7.1±3.6 years were diagnosed with epilepsy by a neurologist. The control group was selected from healthy individuals and matched to the case group. Serum zinc and copper were measured by the calorimetric method using a colorimetric method kit.

Results:

The mean zinc level was 60.1±22.6 ug/dl in the cases, and 102.1±18 ug/dl in the controls (p<0.001). The mean copper level was 180.1±32.4 ug/dl in cases compared with 114.5±18.5 ug/dl in controls (p<0.001).

Conclusion:

Serum zinc levels in epileptic children under drug treatment are lower compared with healthy children. Also, serum copper levels in these patients are significantly higher than in healthy people. No significant difference in the levels of serum copper and zinc was observed in using one drug or multiple drugs in the treatment of epileptic patients.Epilepsy is a common neurological disorder with heterogeneous nature affecting 50 million people world wide, with more than 85% living in the developing world, and it begins in childhood in more than half of the cases. An estimated 4.7 million people with epilepsy live in the Eastern Mediterranean Region.1 The prevalence of epilepsy in Egypt is not accurately determined, although some studies reported that the lifetime prevalence rate of epilepsy is 12.67/1000.2 Epilepsy is a disorder of brain electrical activity that may lead to recurrent seizures. The type of seizure depends on the part of the brain involved, and various causes can lead to seizures. The absence of a specific cause of the seizures is called primary or idiopathic epilepsy.3 Some of the main causes of epilepsy include: low oxygen during birth; head injuries that occur during birth or from accidents during youth or adulthood; brain tumors; genetic conditions that result in brain injury, such as tuberous sclerosis; infections such as, meningitis or encephalitis; stroke; or any other type of damage to the brain and abnormal levels of substances such as, sodium or blood sugar.4 Different mineral elements are critical for normal functioning of the central nervous system, and several studies have demonstrated that changes in different electrolytes of the body, such as sodium, potassium, magnesium, and the trace elements such as copper (Cu) and zinc (Zn) subsequently are effective on the incidence of convulsions and epilepsy.5 The routine treatment of the epilepsy is using anticonvulsant agents. The use of such drugs mainly controls the disease, or can reduce the times of the seizure. After initial recognition, approximately 70% of patients have controlled seizures with antiepileptic drugs (AEDs). Approximately 25% of patients with epilepsy do not have any observed improvement in the reduction of the amount of seizures, even when 2 or 3 AEDs are used. Some studies have shown the importance of a specific diet, hormones, and micronutrients in the management of patients with epilepsy.6 The aim of the present study was to evaluate serum levels of Cu and Zn in patients with epilepsy in long-term treatment with anticonvulsants and comparing this with healthy individuals.     

Prevalence of occult hepatitis B virus infection in hemodialysis patients from egypt with or without hepatitis C virus infection

Background

While prevalence of Hepatitis B virus (HBV) in patients with end-stage renal failure (ESRF) who are undergoing dialysis has decreased significantly during the past few decades, it still remains a distinct clinical problem. The immunosuppressive nature of renal disease often leads to chronicity of the HBV infection and an opportunity for nosocomial spread of the infection among dialysis patients. Egypt is among the countries with intermediate endemicity of HBsAg (range, 2%–7%). Large-scale geographic heterogeneity in HBV prevalence has been reported worldwide and HBV prevalence is especially heterogeneous in Egypt.

Objectives

To assess the prevalence of occult HBV infection (OBI) in hemodialysis patients with or without chronic hepatitis C (HCV) from Minia and Assuit, Upper Egypt, using HBV DNA assays.

Patient and Methods

Sera from 145 hemodialysis patients with negative HbsAg were investigated for HBV DNA using real-time polymerase chain reaction (RT-PCR). Only serum samples with repeatedly detectable HBV DNA were considered positive. Patients were divided into 2 groups: HCV RNA positive and HCV RNA negative, based on the results of a third generation enzyme linked immunosorbent assay (ELISA) anti-HCV test and HCV RNA PCR.

Results

HBV DNA was detected in 6 of the 145 patients (4.1%) and HBcAb was detected in 29/145 patients (20%). There were no statistically significant differences in the age, duration of hemodialysis, biochemical parameters, serological markers of HBV, or HBV DNA between patients with and without HCV infection.

Conclusions

Four percent of the hemodialysis patients had OBI. There was no significant difference in the prevalence of OBI between hemodialysis patients with or without HCV co-infection.