Dorsal costo-vertebral joint as a rare localization of Staphylococcus aureus sepsis

Background

Septic arthritis of the costovertebral thoracic joint is a rare site infection. We report an isolated case of septic arthritis of the 10th costo-vertebral right joint with osteitis due to Staphylococcus aureus.

Dipeptidyl peptidase-4 expression in pancreatic tissue from patients with congenital hyperinsulinism

Congenital hyperinsulinism (CHI) is caused by unregulated insulin release and leads to hyperinsulinaemic-hypoglycaemia (HH). Glucagon like peptide-1 (GLP-1), glucose-dependent insulinotropic peptide (GIP), peptide YY (PYY) and the enzyme; dipeptidyl peptidase-4 (DPP-4) all regulate appetite and glucose homeostasis. These proteins have been identified as possible contributors to HH but the mechanism remains poorly understood. We aimed to look at the expression pattern of pancreatic DPP-4 in children with focal and diffuse CHI (FCHI and DCHI, respectively). Using immunohistochemistry; we determined DPP-4 expression patterns in the pancreas of CHI patients. DPP-4 was found to be expressed in the pancreatic β, α and δ-cells in and around the focal area. However, it was predominantly co-localised with β-cells in the paediatric tissue samples. Additionally, proliferating β-cells expressed DPP-4 in DCHI, which was absent in the FCHI pancreas. Insulin was found to be present in the exocrine acini and duct cells of the DCHI pancreas suggestive of exocrine to endocrine transdifferentiation. Furthermore, 6 medically-unresponsive DCHI pancreatic samples showed an up-regulation of total pancreatic DPP-4 expression. In conclusion; the expression studies have shown DPP-4 to be altered in HH, however, further work is required to understand the underlying role for this enzyme.     

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

Although many genes have been identified for the autosomal recessive cerebellar ataxias (ARCAs), several patients are unlinked to the respective loci, suggesting further genetic heterogeneity. We combined homozygosity mapping and exome sequencing in a consanguineous Egyptian family with congenital ARCA, mental retardation and pyramidal signs. A homozygous 5-bp deletion in SPTBN2, the gene whose in-frame mutations cause autosomal dominant spinocerebellar ataxia type 5, was shown to segregate with ataxia in the family. Our findings are compatible with the concept of truncating SPTBN2 mutations acting recessively, which is supported by disease expression in homozygous, but not heterozygous, knockout mice, ataxia in Beagle dogs with a homozygous frameshift mutation and, very recently, a homozygous SPTBN2 nonsense mutation underlying infantile ataxia and psychomotor delay in a human family. As there was no evidence for mutations in 23 additional consanguineous families, SPTBN2-related ARCA is probably rare.     

C-reactive protein in relation to early atherosclerosis and periodontitis

Periodontitis may affect atherosclerosis via the chronic inflammation. We investigated high-sensitivity C-reactive protein (hsCRP) in relation to early vascular atherosclerotic changes in non-symptomatic subjects with and without long-term periodontitis. Carotid ultrasonography with calculation of common carotid artery intima-media area (cIMA) was performed, and hsCRP and atherosclerosis risk factors were analysed in randomly chosen 93 patients with periodontitis and 41 controls. The relationship between hsCRP, cIMA and atherosclerosis risk factors was evaluated with multiple logistic regression analysis. Women displayed lower hsCRP (p < 0.05) and higher serum HDL (p < 0.001) than men. In all patients with periodontitis, cIMA values were higher than in controls. Periodontitis appeared to be a major predictor for increased cIMA (odds ratio, 3.82; 95% confidence interval, 1.19–12.26). Neither of these factors was significantly associated with hsCRP which thus appeared not sensitive enough to be a marker for periodontitis or atherosclerosis. Hence, irrespective of low hsCRP levels, periodontitis appeared to increase the risk for atherosclerosis.     

Waiting time for transfer of patients with prostaglandin dependant congenital heart defects to tertiary cardiac centers

Worldwide congenital heart defects (CHD) are the leading cause of infant deaths owing to congenital anomalies. Delay in diagnosing and operating in neonates with prostaglandin dependant CHD may lead to significant morbidity and mortality.Objectives: To assess the time interval needed for acceptance and transfer of patients with critical CHD to a tertiary cardiac center and the impact on the patient’s survival.Study design: Retrospective database reviews of all cases diagnosed to have prostaglandin dependant (PG) CHD at Prince Sultan Cardiac Center-Qassim during a 43 months period (from May 2007 to December 2010).Results: During the study period 104 patients were diagnosed to have PG dependant CHD. Patients with PG dependant systemic circulation constitute 60% of patients. Patients with ventricular septal defect (VSD) associated with coarctation of the aorta constituted 16% of patients. The mean waiting time for transfer to a tertiary cardiac center was 10 ± 10 days. Twenty-two (21%) patients died while waiting for acceptance and transfer. Eleven patients were diagnosed with hypoplastic left heart syndrome (HLHS). There was no significant difference in the waiting time for those with or without HLHS, with a mean of 9 days for both. Six of our patients had infections with positive blood cultures. The mean waiting period for those with proved infection was 25 days compared with 8 days for those with no proved infection (p value < 0.005).Conclusion: There are a significant number of patients with severe CHD who die while waiting for acceptance and transfer to a tertiary cardiac center. The causes for delay could be the presence of infection, prematurity and low birth weight. The limited numbers of tertiary cardiac centers in Saudi Arabia as well as cardiac ICU beds are among the factors delaying the acceptance of patients requiring cardiac surgery.