Schistosoma prevalence in appendicitis.

BACKGROUND: Schistosomiasis is a waterborne trematode with numerous subtypes affecting different areas of the body. Rob Ferreira Hospital is located in an endemic area for schistosomiasis in the Lowveld region of South Africa. We set out to determine the prevalence of Sch istosoma in appendicitis. METHODS: From 2009 to 2013, all appendix samples removed in theatre were reviewed. A total of 304 cases were retrieved. Viable ova, calcified ova, or schistosomal granulomas was considered proof of exposure. RESULTS: Thirty-one out of the 304 cases revealed evidence of schistosomal exposure, equating to 10.2 %. CONCLUSION: A prevalence of more than 10 % is truly significant seeing as how a delayed diagnosis can lead to serious complications, or how a misdiagnosis can result in unnecessary and often protracted treatment with harmful drugs.

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.

Primary Autosomal Recessive Microcephaly (MCPH) is characterized by congenital microcephaly usually without additional clinical findings. The most common gene implicated in MCPH is ASPM and a large percentage of mutations described have been homozygous and in consanguineous families primarily of East Asian and Middle Eastern origin. ASPM sequencing was performed on 400 patients between the years 2009 and 2012. Seventy of the patient samples were also analyzed for copy number changes in the ASPM gene. Forty protein truncating mutations, including 29 novel mutations, were identified in 39 patients with MCPH. Approximately one third of patients were compound heterozygotes, indicative of non-consanguinity in these patients. In addition, 46 non-synonymous variants were identified and interpreted as variants of uncertain significance. No deletion/duplication in ASPM was identified in the patients analyzed. A wide ethnic distribution was observed, including the first reported patients with ASPM-related MCPH of Hispanic descent. Clinical information was collected for 26 of the ASPM-positive patients and 41 of the ASPM-negative patients. As more individuals are identified with MCPH, we anticipate that we will continue to identify ASPM mutation-positive patients from all ethnic origins supporting the occurrence of this genetic condition beyond that of consanguineous families of certain ethnic populations.

Assessment of the delayed repair of uncomplicated inguinal hernias in infants.

BACKGROUND: Potential strangulation of infant inguinal hernias is the main indication for their urgent repair. Lack of theatre time delays repair and prolongs hospitalisation. We report a series of patients with uncomplicated hernias who were discharged home to have their elective surgery at a later stage and assessed the outcomes of this approach. METHODS: A retrospective audit was performed of all infants with an inguinal hernia from January 2010 to June 2015. Incomplete records and infants operated after their first birthday were excluded. Two groups were identified; immediate surgery for infants with uncomplicated hernias, and delayed surgery for infants with uncomplicated hernias. Incarceration/strangulation rates in the interim period were documented for the delayed group, and comparison made between the groups regarding perioperative and anaesthetic complications and length of postoperative hospital stay. RESULTS: The mean time delay between diagnosis and repair was 8.78 weeks. None of the hernias in the delay group strangulated while awaiting repair. There was no significant difference in the perioperative complications between the two groups. Out of the 70 cases in the immediate repair group, there was 7 (10%) surgical and 4 (5.7%) anaesthetic complications. The delayed group (169 infants) had 8 (4.7%) surgical and 6 (3.6%) anaesthetic complications. The incarceration rate after being discharged home was 4.1%. This group of infants had no anaesthetic or surgical complications. Length of hospital stay postoperatively was 1.43 days in the immediate group and 1.3 in the delayed group (p = .485). CONCLUSION: Delayed repair, up to 2 months later, for uncomplicated infant hernia carries a small risk of incarceration but does not increase the rate of strangulation or other complications.