First Report of Clinical, Functional, and Molecular Investigation of Chronic Granulomatous Disease in Nine Jordanian Families

Introduction

Chronic granulomatous disease is a rare inherited immunodeficiency syndrome caused by mutations in four genes encoding essential nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex components.

Material and methods

Clinical, functional, and molecular investigations were conducted in 15 Jordanian CGD patients from nine families.

Results and Discussion

Fourteen patients were children of consanguineous parents and suffered from autosomal recessive (AR) CGD forms with mutations in the CYBA, NCF1, and NCF2 genes encoding p22phox, p47phox, and p67phox proteins, except for one patient in whom the mutation’s location was not found. One patient had an extremely rare X⁺CGD subtype resulting from a novel missense mutation (G1234C) in exon 10 of CYBB. We found a genetic heterogeneity in the Jordanian families with a high frequency of rare ARCGD, probably because consanguineous marriages are common in Jordan. No clear correlation between the severity of the clinical symptoms and the CGD types could be established.     

Helicobacter pylori: association with gall bladder disorders in Pakistan

Helicobacter species colonise the biliary tract and therefore this study explores the relationship between of Helicobacter pylori and cholecystitis. Bile and gall bladder tissue samples were obtained from 144 patients who underwent cholecystectomy. Of these, 89 had chronic cholecystitis with cholelithiasis, 44 had gall bladder carcinoma and 11 had gall bladder polyps. Histopathology examination included special staining and immunohistochemistry (IHC), while Helicobacter species (H. pylori, H. bilis and H. hepaticus) were detected by the polymerase chain reaction (PCR). Sequencing and BLAST query of PCR products was undertaken and samples were considered to contain H. pylori if both PCR and IHC were positive. Immunohistochemistry for H. pylori was positive in 22 (25%) cases compared to five (9%) in the control group (P=0.02). Testing (PCR) for 16S rDNA was positive in 23 (26%) cases compared to six (11%) controls (P=0.03). Negative PCR results were obtained for H. bilis and H. hepaticus. Twenty-four (89%) were positive by both 16S rDNA PCR and IHC for H. pylori (P<0.001). Both PCR for 16S rDNA and IHC were positive in 21 (24%) cases compared to five (9%) controls (P=0.03). Sequencing of 16S rRNA and glmM PCR products were consistent with H. pylori. In conclusion, H. pylori DNA was demonstrated in cases of chronic cholecystitis and gall bladder carcinoma associated with cholelithiasis, but this association requires further study.     

Enalapril/amlodipine combination in cyclosporine-treated renal transplant recipients: a prospective randomized trial

BACKGROUND: Most hypertensive renal transplant recipients require two or more antihypertensive medications to achieve blood pressure control. However, which medications must be combined is still a matter of debate. METHODS: A prospective randomized open-label blinded evaluation trial comparing the six-month effects of the amlodipine-enalapril combination (n = 32) vs. enalapril alone (n = 33) and vs. amlodipine alone (n = 34) on arterial pressure, renal function, albuminuria and tolerability. RESULTS: At six months, diastolic arterial pressure was more adequately controlled (i.e., <90 mmHg) in the combination group than in the amlodipine and enalapril groups (100% vs. 82.4% and 84.8%, respectively, p = 0.038). The same trend was observed for systolic arterial pressure (65.6% vs. 58.8% and 51.5%, NS). The six-month change in albuminuria was similar in the combination group and in the enalapril group (-64.7% vs. -59.5%); however, patients in the combination group exhibited a greater reduction in albuminuria than in the amlodipine group (-64.7% vs. -29.0%, p = 0.002). As compared with baseline values, serum creatinine and potassium remained unchanged in the combination group, whereas they increased by 9 +/- 12 micromol/L (p = 0.01) and by 0.2 +/- 0.4 mmol/L (p < 0.01), respectively, in the enalapril group. The cyclosporine trough levels remained unchanged in the combination group, but increased in the amlodipine group. CONCLUSION: Angiotensin-converting enzyme inhibitor (ACEI)-calcium-channel blocker (CCB) combination controls arterial pressure more adequately than ACEI alone or CCB alone, reduces albuminuria and may prevent the ACEI-induced initial rise in serum creatinine.     

Surgery for movement disorders

Movement disorders, such as Parkinson's disease, tremor, and dystonia, are among the most common neurological conditions and affect millions of patients. Although medications are the mainstay of therapy for movement disorders, neurosurgery has played an important role in their management for the past 50 years. Surgery is now a viable and safe option for patients with medically intractable Parkinson's disease, essential tremor, and dystonia. In this article, we provide a review of the history, neurocircuitry, indication, technical aspects, outcomes, complications, and emerging neurosurgical approaches for the treatment of movement disorders.     

Multiple-level cement vertebroplasty in patients with vertebral commpression fractures from osteodystrophy in chronic liver disease

Multiple compression fractures of osteoporotic vertebrae are common in patients with a liver transplant or with chronic liver disease. The authors describe two such patients, treated with percutaneous cement vertebroplasty at 12 levels, respectively in 4 and in 2 sessions. No complications were seen after follow-up periods of 12 and 8 months respectively. However, this is not a grant for the future, and further followup is necessary. Multiple-level cement vertebroplasty should not be generalized before further experience is gained. Moreover, medical treatment continues to play an important role.     

Quantitation of nicorandil in pharmaceutical formulations by spectrophotometry using N-(1-naphthyl) ethylenediamine dihydrochloride as coupling agent

A validated and sensitive spectrophotometric method is developed for the quantitation of nicorandil in pharmaceutical formulations. The method is based on the reduction of nitroxy ethyl group of nicorandil to carbonyl derivative and nitrite ion by Zn/NH4Cl. The nitrite ion undergoes diazotization with sulphanilamide in presence of HCl followed by coupling with N-(1-naphthyl) ethylenediamine dihydrochloride (NED) to form a colored product with lambda(max) at 525 nm. Under the optimized experimental condition, Beer's law is obeyed in the concentration range of 0.4-12.0 microg/ml with molar absorptivity of 1.92 x 10(4) l mol(-1) cm(-1). The statistical analysis of calibration data yields the linear regression equation: A = 6.304 x 10(-4)+9.13 x 10(-2) C with correlation coefficient of 0.9999. The limits of detection and quantification are 0.05 and 0.15 microg/ml, respectively. The results obtained by the proposed method are acceptable with average recoveries of 100.0-100.1%. The results of the proposed method are compared with those of the reference method by point and interval hypothesis tests, which showed excellent agreement and there is no significant difference in accuracy and precision of methods compared.     

Purulent pericarditis in advanced thymoma: A case report

Thymoma is the most common primary anterior mediastinum mass with various clinical manifestations, and one of the manifestations is pericardial effusion. While pericardial effusion in thymoma is usually serous, it can become purulent when an infection occurs in a nearby organ, albeit rare. In this report, we present a rare case of a 27-year-old woman who had purulent pericarditis secondary to an advanced thymoma. The patient came to the emergency department with the chief complaints of worsening chest discomfort, non-productive cough, and fever in the past 2 weeks. The patient was diagnosed with thymoma 5 months prior. Based on the examinations, it was discovered that the patient had pericarditis. After the pericardiocentesis was performed and the fluid was examined, the patient was diagnosed with purulent pericarditis secondary to thymoma. The patient was then treated with intravenous antibiotic and pericardial drain. Unfortunately, the patient''s condition deteriorated, and the patient died on the fifth day of hospitalization. This case highlights an infrequent but potentially life-threatening complication of thymoma. In addition, thymic pathologies should be included as a rare etiology in the differential diagnosis of purulent pericardial effusion.