Nodding syndrome in Mundri county,South Sudan: environmental,nutritional and infectious factors

Background

Nodding Syndrome is a seizure disorder of children in Mundri County, Western Equatoria, South Sudan. The disorder is reported to be spreading in South Sudan and northern Uganda.

Objective

To describe environmental, nutritional, infectious, and other factors that existed before and during the de novo 1991 appearance and subsequent increase in cases through 2001.

Methods

Household surveys, informant interviews, and case-control studies conducted in Lui town and Amadi village in 2001–2002 were supplemented in 2012 by informant interviews in Lui and Juba, South Sudan.

Results

Nodding Syndrome was associated with Onchocerca volvulus and Mansonella perstans infections, with food use of a variety of sorghum (serena) introduced as part of an emergency relief program, and was inversely associated with a history of measles infection. There was no evidence to suggest exposure to a manmade neurotoxic pollutant or chemical agent, other than chemically dressed seed intended for planting but used for food. Food use of cyanogenic plants was documented, and exposure to fungal contaminants could not be excluded.

Conclusion

Nodding Syndrome in South Sudan has an unknown etiology. Further research is recommended on the association of Nodding Syndrome with onchocerciasis/mansonelliasis and neurotoxins in plant materials used for food.     

Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients.

BACKGROUND AND AIMS: An accurate family history is an essential component of cancer risk assessment. Our aim was to determine the concordance of family history assessments made by physicians with patients' self-reports and the frequency of referral for genetic evaluation in high-risk colorectal cancer (CRC) patients. METHODS: A self-administered family cancer history questionnaire was completed by 387 consecutive CRC patients at their first visit to a gastroenterology cancer clinic. Physician notes from the first visit were reviewed to determine the concordance of the family cancer history with patients' self-reported history. Prevalence of individuals that satisfied the Bethesda guidelines for hereditary colon cancer were compared with actual rates of referral. Regression analyses were used to determine factors associated with a comprehensive physician evaluation of family history. RESULTS: Oncologists documented a comprehensive family history in 59% (184 of 311) of patients with a first- or second-degree relative with cancer. Young age at diagnosis and a first-degree relative with CRC were not associated with a more comprehensive family history assessment. An increasing number of cancers per family was a strong predictor of a less comprehensive family history assessment (odds ratio = 0.63; P < 0.0001). Seventy-five of 387 (19%) CRC patients met Bethesda guidelines for genetics assessment, however, only 13 of 75 (17%) were referred. CONCLUSIONS: Increased complexity in family cancer history leads to a decrease in accuracy of family history, suggesting the need for systematic approaches to facilitate family history assessment. Familial cancer risk remains largely unrecognized and referral rates for genetic evaluation for CRC syndromes are low.     

The functional-organic dichotomy: postinfectious irritable bowel syndrome and inflammatory bowel disease-irritable bowel syndrome

Gastroenterologists often encounter situations when the clinical and pathophysiological features that typically distinguish functional from organic disorders overlap. This "blurring of boundaries" can occur with post-infectious irritable bowel syndrome (PI-IBS), a subset of IBS and a newly described entity IBD-IBS. The key associating features include pain and usually diarrheal symptoms that are disproportionate to the observed pathology, microscopic inflammation, and often a co-association with psychological distress. A previous initiating gastrointestinal infection is required for PI-IBS and assumed for IBD-IBS. Using this perspective we discuss the clinical and pathophysiological features of PI-IBS and IBD-IBS and the growing evidence for the overlapping features of these two disorders in terms of alteration of gut flora, immune dysregulation, and role of stress. A unifying model of PI-IBS and IBD-IBS is proposed that may have important clinical and research implications. It obligates us to reframe our understanding of illness and disease from the dualistic biomedical model into a more integrated biopsychosocial (BPS) perspective.     

Mapping genotype–phenotype associations of nsSNPs in coiled‐coil oligomerization domains of the human proteome

We assessed the impact of disease mutations (DMs) versus polymorphisms (PYs) in coiled‐coil (CC) domains in UniProt by modeling the structural and functional impact of variants in silico with the CC prediction program Multicoil. The structural impact of variants was evaluated with respect to three main metrics: the oligomerization score—to determine whether the variant is stabilizing or destabilizing—the oligomerization state, and the register‐specific score. The functional impact was queried indirectly in several ways. First, we examined marginally stable CCs that were either stabilized or destabilized by the variant. Second, we looked for variants that altered the register of the wild‐type CC near wild‐type irregularities of likely functional importance, such as skips and stammers. Third, we searched for variants that altered the oligomerization state of the CC. DMs tended to be more destabilizing than PYs; but interestingly, PYs were more frequently associated with predicted changes in the oligomerization state. The functional impact was also queried by testing the association of CC variants with multiple phenotypes, that is, pleiotropy. Mutations in CC regions of proteins cause 155 different phenotypes and are more frequently associated with pleiotropy than proteins in general. Importantly, the CC region itself often encodes the pleiotropy.     

The impact of ethnicity on outcomes following coronary artery bypass graft surgery in the Veterans Health Administration

OBJECTIVES: We evaluated the effect of African American (AA) and Hispanic American (HA) ethnicity on mortality and complications following coronary artery bypass graft (CABG) surgery in the Veterans Health Administration (VHA). BACKGROUND: Few studies have examined the impact of ethnicity on outcomes following cardiovascular procedures. METHODS: This study included all 29,333 Caucasian, 2,570 AA, and 1,525 HA patients who underwent CABG surgery at any one of the 43 VHA cardiac surgery centers from January 1995 through March 2001. We evaluated the relationship between ethnicity (AA vs. Caucasian and HA vs. Caucasian) and 30-day mortality, 6-month mortality, and 30-day complications, adjusting for a wide array of demographic, cardiac, and noncardiac variables. RESULTS: After adjustment for baseline characteristics, AA and Caucasian patients had similar 30-day (AA/Caucasian odds ratio [OR] 1.07; 95% confidence interval [CI] 0.84 to 1.35; p = 0.59) and 6-month mortality risk (AA/Caucasian OR 1.10; 95% CI 0.91 to 1.34; p = 0.31). However, among patients with low surgical risk, AA ethnicity was associated with higher mortality (OR 1.52, CI 1.10 to 2.11, p = 0.01), and AA patients were more likely to experience complications following surgery (OR 1.28; 95% CI 1.14 to 1.45; p < 0.01). In contrast, HA patients had lower 30-day (HA/Caucasian OR 0.70; 95% CI 0.49 to 0.98; p = 0.04) and 6-month mortality risk (HA/Caucasian OR 0.66; 95% CI 0.50 to 0.88; p < 0.01) than Caucasian patients. CONCLUSIONS: Ethnicity does not appear to be a strong risk factor for adverse outcomes following CABG surgery in the VHA. Future studies are needed to determine why AA patients have more complications, but ethnicity should not affect the decision to offer the operation.     

Development and evaluation of a microdevice for amino acid biomarker detection and analysis on Mars

The Mars Organic Analyzer (MOA), a microfabricated capillary electrophoresis (CE) instrument for sensitive amino acid biomarker analysis, has been developed and evaluated. The microdevice consists of a four-wafer sandwich combining glass CE separation channels, microfabricated pneumatic membrane valves and pumps, and a nanoliter fluidic network. The portable MOA instrument integrates high voltage CE power supplies, pneumatic controls, and fluorescence detection optics necessary for field operation. The amino acid concentration sensitivities range from micromolar to 0.1 nM, corresponding to part-per-trillion sensitivity. The MOA was first used in the lab to analyze soil extracts from the Atacama Desert, Chile, detecting amino acids ranging from 10-600 parts per billion. Field tests of the MOA in the Panoche Valley, CA, successfully detected amino acids at 70 parts per trillion to 100 parts per billion in jarosite, a sulfate-rich mineral associated with liquid water that was recently detected on Mars. These results demonstrate the feasibility of using the MOA to perform sensitive in situ amino acid biomarker analysis on soil samples representative of a Mars-like environment.     

Percutaneous coronary intervention for acute myocardial infarction in a patient with dextrocardia

Situs inversus with dextrocardia is a rare congenital anomaly. There are limited published case reports of successful percutaneous coronary intervention (PCI) in these patients who have atherosclerotic coronary artery disease, especially when presenting with acute myocardial infarction. PCI is technically difficult because of mirror image dextrocardia. We hereby describe a 48-yr-old female, who had acute inferior wall myocardial infarction and underwent successful emergency primary coronary angioplasty and stenting of a proximally occluded right coronary artery. Technical details about PCI are discussed.