The following report will discuss the diagnosis and management of non-specific abdominal pain in a 77-year-old woman who presented to a district general hospital in South London. CT imaging ...demonstrated ileo-colic intussusception with free air and fluid indicating perforation. The images of the specimen clearly show the ileal tumour within the intussusception. Thus, the patient underwent an emergency right hemicolectomy and formation of a double-barrelled ileostomy. Histology subsequently confirmed this was secondary to a colonic adenocarcinoma. This case report is unique as it highlights that intussusception in adults is very difficult to accurately diagnose based on clinical features (due to non-specific findings) and even with radiology can be challenging. This is also the first documented case of the site of perforation not being directly involved with the site of intussusception. The perforation site was in fact distal to the intussusception. At the time of surgery, it was noted that the patient had significantly faecal loading up to her rectum. The resulting closed loop was the cause of her perforation.
Objective. Frailty has been associated with adverse outcomes following cardiac surgery. Gait speed has been validated as a marker of frailty. Slow gait speed has been found to be associated with ...mortality after cardiac surgery. However, it is unknown why slow gait speed predisposes to cardiac surgical mortality. Design. A retrospective analysis. Participants. Patients undergoing cardiac surgery who had a 5-meter walk test performed preoperatively (n=333 of 1735 total surgical patients) from January 2013 to March 2017. Setting. A tertiary care academic hospital. Measurements and main results. Gait speeds were stratified by tertiles: <0.83 m/s, 0.83–1 m/s, and >1 m/s. There was no difference in the incidence of cardiogenic or vasogenic shock when comparing the gait speed groups. Total hospital length of stay was significantly different among the gait speed groups (p=0.0050). Also, patients in the slowest gait speed tertile had a significant association with need for a postoperative permanent pacemaker (p=0.0298). Conclusion. There was no significant association between gait speed and the incidence of cardiogenic or vasogenic shock after cardiac surgery. Gait speed was associated with increased hospital length of stay and need for a permanent pacemaker after cardiac surgery.
Objectives
Our purpose was to describe relationships between demographic characteristics, body mass index (BMI), and health literacy among Native Hawaiians and other Pacific Islanders (NHPIs).
Design ...and Sample
In this cross‐sectional survey, we interviewed 364 NHPI adults.
Measures
We used Newest Vital Sign (NVS), a health literacy tool; measured heights and weights; and demographic questions.
Results
According to participants' NVS scores, 45.3% had at least a possibility of low health literacy. Lower NVS scores were associated with increased BMI (r = −0.12, p = .027) and increased age (r = −0.26, p < .001). Higher NVS scores were associated with higher incomes (r = 0.21, p = .001) and higher education (r = 0.27, p < .001). Women scored significantly better than men (t = −2.0, p = .05). Participants' NVS scores in Hawaii versus Utah were not significantly different (t = .26, p = .80).
Conclusions
Pathways to health literacy are complex; however, age, income, education, and BMI explained a modest 19.95% of the combined variance in NVS scores. Public health nurses working to improve health literacy could include review of critical information on nutrition facts labels, frequently used calculations, and application of this information when making food choices.
Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant condition characterized by bone fragility, irregular bone mineral density (BMD) and fibro‐osseous lesions in the skull and jaw. Mutations ...in Anoctamin‐5 (ANO5) have been identified in some cases. We aimed to identify the causative mutation in a family with features of GDD but no mutation in ANO5, using whole exome capture and massive parallel sequencing (WES). WES of two affected individuals (a mother and son) and the mother's unaffected parents identified a mutation in the C‐propeptide cleavage site of COL1A1. Similar mutations have been reported in individuals with osteogenesis imperfecta (OI) and paradoxically increased BMD. C‐propeptide cleavage site mutations in COL1A1 may not only cause ‘high bone mass OI’, but also the clinical features of GDD, specifically irregular sclerotic BMD and fibro‐osseous lesions in the skull and jaw. GDD patients negative for ANO5 mutations should be assessed for mutations in type I collagen C‐propeptide cleavage sites.
763: A simplified and improved EFM checklist Hamilton, Emily; Smith, Samuel; Clark, Steve ...
American journal of obstetrics and gynecology,
January 2017, Letnik:
216, Številka:
1
Journal Article
Specific language impairment (SLI) is a common developmental disorder characterized by difficulties in language acquisition despite otherwise normal development and in the absence of any obvious ...explanatory factors. We performed a high-density screen of SLI1, a region of chromosome 16q that shows highly significant and consistent linkage to nonword repetition, a measure of phonological short-term memory that is commonly impaired in SLI. Using two independent language-impaired samples, one family-based (211 families) and another selected from a population cohort on the basis of extreme language measures (490 cases), we detected association to two genes in the SLI1 region: that encoding c-maf-inducing protein (CMIP, minP = 5.5 × 10−7 at rs6564903) and that encoding calcium-transporting ATPase, type2C, member2 (ATP2C2, minP = 2.0 × 10−5 at rs11860694). Regression modeling indicated that each of these loci exerts an independent effect upon nonword repetition ability. Despite the consistent findings in language-impaired samples, investigation in a large unselected cohort (n = 3612) did not detect association. We therefore propose that variants in CMIP and ATP2C2 act to modulate phonological short-term memory primarily in the context of language impairment. As such, this investigation supports the hypothesis that some causes of language impairment are distinct from factors that influence normal language variation. This work therefore implicates CMIP and ATP2C2 in the etiology of SLI and provides molecular evidence for the importance of phonological short-term memory in language acquisition.
PDF
