Die aanwending van ’n kwalitatiewe metodologiese model in gesinsmoordnavorsing: ’n Suid-Afrikaanse gevallestudie

In the light of limited research on family violence and the fact that the phenomenon of family murder has generally not been researched systematically in South Africa, this article provides an exposition of the way in which family murder has been studied qualitatively in a recent HSRC project. In accordance with current views on criteria for evaluating qualitative studies, a natural history of the most important decisions taken during the execution of the research is presented In addition, the article indicates how the study complies with the standards of qualitative research

Conceptualising qualitative research through a spiral of meaning-making

Abstract: This article emphasises the meaningful interrelationship between practice, experience, concepts and theory in the process of meaning-making in qualitative research. The importance of existing knowledge, the researcher’s background and stance (ontology and epistemology) and the conscious engagement of the researcher with him/herself in a critical refl exive process to develop new knowledge and direction to act upon will be underlined. Moreover, this article attempts to unravel the dynamic spiral of meaningmaking when developing a conceptual framework

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses

Background: Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population. The aim of our study was to find genomic associations, to investigate the mode of inheritance, to allow a DNA test for hydrocephalus in Friesian horses to be developed. In case of a monogenic inheritance we aimed to identify the causal mutation. Results: A genome-wide association study of hydrocephalus in 13 cases and 69 controls using 29,720 SNPs indicated the involvement of a region on ECA1 (P T corresponding to XP_001491595 p.Gln475* was identical to a B3GALNT2 mutation identified in a human case of muscular dystrophy-dystroglycanopathy with hydrocephalus. All 16 available cases and none of the controls were homozygous for the mutation, and all 17 obligate carriers (= dams of cases) were heterozygous. A random sample of the Friesian horse population (n = 865) was tested for the mutation in a commercial laboratory. One-hundred and forty-seven horses were carrier and 718 horses were homozygous for the normal allele; the estimated allele frequency in the Friesian horse population is 0.085. Conclusions: Hydrocephalus in Friesian horses has an autosomal recessive mode of inheritance. A nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* in B3GALNT2 (1: 75,859,296-75,909,376) is concordant with hydrocephalus in Friesian horses. Application of a DNA test in the breeding programme will reduce the losses caused by hydrocephalus in the Friesian horse population

Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

Background: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to identify the gene defect that causes the recessively inherited trait in Friesian horses to understand the disease process at the molecular level. Results: We have localized the genetic cause of the dwarfism phenotype by a genome wide approach to a 3 Mb region on the p-arm of equine chromosome 14. The DNA of two dwarfs and one control Friesian horse was sequenced completely and we identified the missense mutation ECA14:g.4535550C> T that cosegregated with the phenotype in all Friesians analyzed. The mutation leads to the amino acid substitution p.(Arg17Lys) of xylosylprotein beta 1,4-galactosyltransferase 7 encoded by B4GALT7. The protein is one of the enzymes that synthesize the tetrasaccharide linker between protein and glycosaminoglycan moieties of proteoglycans of the extracellular matrix. The mutation not only affects a conserved arginine codon but also the last nucleotide of the first exon of the gene and we show that it impedes splicing of the primary transcript in cultured fibroblasts from a heterozygous horse. As a result, the level of B4GALT7 mRNA in fibroblasts from a dwarf is only 2 % compared to normal levels. Mutations in B4GALT7 in humans are associated with Ehlers-Danlos syndrome progeroid type 1 and Larsen of Reunion Island syndrome. Growth retardation and ligamentous laxity are common manifestations of these syndromes. Conclusions: We suggest that the identified mutation of equine B4GALT7 leads to the typical dwarfism phenotype in Friesian horses due to deficient splicing of transcripts of the gene. The mutated gene implicates the extracellular matrix in the regular organization of chrondrocyte columns of the growth plate. Conservation of individual amino acids may not be necessary at the protein level but instead may reflect underlying conservation of nucleotide sequence that are required for efficient splicing

Outcome of Fenestrated Endovascular Aneurysm Repair in Octogenarians:A Retrospective Multicentre Analysis

Objective: An ageing population leads to more age related diseases, such as complex abdominal aortic aneurysms (AAA). Patients with complex AAAs and multiple comorbidities benefit from fenestrated endovascular aneurysm repair (FEVAR), but for the elderly this benefit is not completely clear. Methods: Between 2001 and 2016 all patients treated for complex AAA by FEVAR at two tertiary referral centres were screened for inclusion. Group 1 consisted of patients aged 80 years and older and group 2 of patients younger than 80 years of age. The groups were compared for peri-operative outcome, as well as patient and re-intervention free survival, and target vessel patency during follow up. Results: Group 1 consisted of 42 patients (median age 82 years; interquartile range [IQR] 81–83 years) and group 2 of 230 patients (median age 72 years; IQR 67–77 years). No differences were seen in pre-operative comorbidities, except for age and renal function. Renal function was 61.4 mL/min/1.73 m2 vs.74.5 mL/min/1.73 m2 (p < .01). No differences were seen between procedures, except for a slightly longer operation time in group two. Median follow up was 26 and 32 months, respectively. No difference was seen between the groups for estimated cumulative overall survival (p = .08) at one, three, and five years, being 95%, 58%, and 42% for group 1, and 88%, 75%, and 61% for group 2, respectively. There was no difference seen between groups for the estimated cumulative re-intervention free survival (p = .95) at one, three, and five years, being 84%, 84%, and 84% in group 1, respectively, and 88%, 84%, and 82% in group 2, respectively. Ultimately, no difference was seen between groups for the estimated cumulative target vessel patency (p = .56) at one, three, and five years, being 100%, 100%, and 90% for group 1, and 96%, 93% and 92% for group 2, respectively. Conclusion: Age itself is not a reason to withhold FEVAR in the elderly, and choice of treatment should be based on the patient's comorbidities and preferences

Нарративное интервью в исследовании катамнеза внутренней картины болезни при шизофрении (клинико-психологический аспект)

Представлены особенности проведения клинического нарративного интервью как значимого метода в психодиагностике внутренней картины болезни (ВКБ) в катамнезе у больных шизофренией. Проведено комплексное психоанамнестическое, психодиагностическое, патоперсонологическое обследование больных параноидной шизофренией. Сформулированы стратегии и тактики проведения нарративного интервью с целью выявления особенностей их ВКБ.Наведено особливості проведення клінічного наративного інтерв'ю як визначального методу в психодіагностиці внутрішньої картини хвороби (ВКХ) у катамнезі у хворих на шизофренію. Проведено комплексне психоанамнестичне, психодіагностичне, патоперсонологічне обстеження хворих на параноїдну шизофренію. Сформульовано стратегії і тактики проведення наративного інтерв'ю з метою виявлення особливостей їх ВКХ.The peculiarities of clinical narrative interview as a significant method in psychodagnosis of the disease inner picture (DIP) in the history of patients with schizophrenia are presented. Complex psychoanamnestic, psychodiagnostic, pathopersonological investigation of patients with paranoid schizophrenia was performed. The strategies and tactics of narrative interview with the purpose to reveal DIP peculiarities were formulated

Расчет бокового магнитного сопротивления электромагнитных молотков

Hemolysis is an inevitable side effect of cardiopulmonary bypass resulting in increased plasma free hemoglobin that may impair tissue perfusion by scavenging nitric oxide. Acute kidney injury after on-pump cardiovascular surgery arises from a number of causes and severely affects patient morbidity and mortality. Here, we studied the effect of acute hemolysis on renal injury in 35 patients undergoing on-pump surgical repair of thoracic and thoracoabdominal aortic aneurysms of whom 19 experienced acute kidney injury. During surgery, plasma free hemoglobin increased, as did urinary excretion of the tubular injury marker N-acetyl-β-D-glucosaminidase, in patients with and without acute kidney injury, reaching peak levels at 2 h and 15 min, respectively, after reperfusion. Furthermore, plasma free hemoglobin was independently and significantly correlated with the urine biomarker, which, in turn, was independently and significantly associated with the later postoperative increase in serum creatinine. Importantly, peak plasma free hemoglobin and urine N-acetyl-β-D-glucosaminidase concentrations had significant predictive value for postoperative acute kidney injury. Thus, we found an association between increased plasma free hemoglobin and renal injury casting new light on the pathophysiology of acute kidney injury. Therefore, free hemoglobin is a new therapeutic target to improve clinical outcome after on-pump cardiovascular surgery