Brain-wide association studies (BWASs) have attempted to relate cognitive abilities with brain phenotypes, but have been challenged by issues such as predictability, test-retest reliability, and cross-cohort generalisability. To tackle these challenges, we proposed a machine-learning "stacking" approach that draws information from whole-brain magnetic resonance imaging (MRI) across different modalities, from task-fMRI contrasts and functional connectivity during tasks and rest to structural measures, into one prediction model. We benchmarked the benefits of stacking, using the Human Connectome Projects: Young Adults (n=873, 22-35 years old) and Human Connectome Projects-Aging (n=504, 35-100 years old) and the Dunedin Multidisciplinary Health and Development Study (Dunedin Study, n=754, 45 years old).
View Article and Find Full Text PDFRobotic platforms offer articulating needle drivers but are associated with high costs and lack tactile feedback. The recently developed mechanical Laparoscopic Articulating Needle Driver (LAND) (Flexdex) for conventional laparoscopy offers enhanced dexterity without these limitations. The goal of this study was to assess safety and efficiency during the implementation of the LAND, and describe its learning curve, in an expert center for laparoscopic surgery.
View Article and Find Full Text PDFDNA analyses from challenging samples such as touch evidence, hairs and skeletal remains push the limits of the current forensic DNA typing technologies. Reverse complement PCR (RC-PCR) is a novel, single-step PCR target enrichment method adapted to amplify degraded DNA. The sample preparation process involves a limited number of steps, decreasing the labor required for library preparation and reducing the possibility of contamination due to less sample manipulation.
View Article and Find Full Text PDFReverse Complement PCR (RC-PCR) is an innovative, one-step PCR target enrichment technology adapted for the amplification of highly degraded (fragmented) DNA. It provides simultaneous amplification and tagging of a targeted sequence construct in a single, closed-tube assay. A human identification (HID) RC-PCR panel was designed targeting 27 identity single nucleotide polymorphisms (SNPs) generating targets only 50 base pairs in length.
View Article and Find Full Text PDFBackground: Adverse events in the operating theatre related to non-technical skills and teamwork are still an issue. The influence of minimally invasive techniques on team performance and subsequent impact on patient safety remains unclear. The aim of this review was to assess the methodology used to objectify and rate team performance in minimally invasive abdominal surgery.
View Article and Find Full Text PDFObjective: To train practicing surgeons in robot-assisted distal pancreatectomy (RADP) and assess the impact on 5 domains of healthcare quality.
Background: RADP may reduce the treatment burden compared with open distal pancreatectomy (ODP), but studies on institutional training and implementation programs are scarce.
Methods: A retrospective, single-center, cohort study evaluating surgical performance during a procedure-specific training program for RADP (January 2006 to September 2017).
Objective: Celiac artery compression by the median arcuate ligament (MAL) is a potential cause of postprandial abdominal pain and weight loss that overlaps with other common syndromes. Robotic technology may alter the current paradigm for surgical intervention. Open MAL release is often performed with concurrent bypass for celiac stenosis due to the morbidity of reintervention, whereas the laparoscopic approach is associated with high rates of conversion to open due to bleeding.
View Article and Find Full Text PDFIntroduction: Benign duodenal and periampullary tumors are uncommon lesions requiring careful attention to their complex anatomic relationships with the major and minor papillae as well as the gastric outlet during surgical intervention. While endoscopy is less morbid than open resection, many lesions are not amenable to endoscopic removal. Robotic surgery offers technical advantages above traditional laparoscopy, and we demonstrate the safety and feasibility of this approach for a variety of duodenal lesions.
View Article and Find Full Text PDFThe present experiments investigated the sunk cost error, an apparently irrational tendency to persist with an initial investment, in rats. This issue is of interest because some have argued that nonhuman animals do not commit this error. Two or three fixed-ratio (FR) response requirements were arranged on one lever, and an escape option was arranged on a second lever.
View Article and Find Full Text PDFObjectives: We examined whether schoolyard improvements led to increased physical activity levels among both boys and girls and assessed the aspects of schoolyard design that have an impact on physical activity.
Methods: In a quasi-experimental research design, 6 schools with renovated schoolyards and 3 control schools were divided into activity areas. We calculated measures of children's physical activity by area during school hours as well as after-school hours.
Massively parallel sequencing has tremendous diagnostic potential but requires enriched templates for sequencing. Here we report the validation of an array-based sequence capture method in genetically heterogeneous disorders. The model disorder selected was AR ataxia, using five subjects with known mutations and two unaffected controls.
View Article and Find Full Text PDFThe past decades have seen the staggering development of molecular microbial ecology as a discipline that uses the detection of so-called biomarkers to monitor microbial communities in environment samples. A variety of molecules can be used as biomarkers, including cell-wall components, proteins, lipids, DNA or RNA. Especially, the application of small subunit ribosomal RNA (rRNA) and the corresponding genes have proven invaluable for advances in microbial ecology.
View Article and Find Full Text PDFAim And Method: We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH).
Results: Of 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.
A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other neuropsychiatric problems in children of the Old Order Amish community. Here we report genomic rearrangements resulting in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia. Genomic deletions of varying sizes affecting the CNTNAP2 gene were identified in three non-related Caucasian patients.
View Article and Find Full Text PDFPurpose: Pilot study to evaluate the effectiveness of a step-wise diarrhea management strategy for nelfinavir-associated diarrhea.
Method: HIV-infected adults (CD4 count > 100 cells/mm3, and no evidence of enteric pathogens) developing symptoms of diarrhea after initiation of nelfinavir for a duration of > or = 1 month were enrolled into this 9-week prospective pilot study. Step-wise interventions, reviewed and adjusted additively at 2-week intervals, included nutritional counseling (+/- lactase and/or psyllium), calcium carbonate, and loperamide.
The vast majority of androgen-dependent prostate tumors progress toward incurable, androgen-independent tumors. The identification of androgen-responsive genes, which are still actively transcribed in the tumors of patients who have undergone androgen ablation, may shed light on the molecular mechanisms underlying this phenomenon. To address this question, we chose the Dunning R3327 rat model system, in which the progression from androgen-dependent to -independent tumors is represented by several transplantable prostate-derived tumors.
View Article and Find Full Text PDFCHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome.
View Article and Find Full Text PDFNed Tijdschr Geneeskd
February 2004
A 16-year-old girl had symptoms of vomiting, malaise and weight loss for two months. Blood tests revealed an elevated activity of liver enzymes and hyperthyroidism. Although the patient at first denied the possibility of pregnancy, a pregnancy was subsequently confirmed.
View Article and Find Full Text PDFMicrodeletions and microduplications, not visible by routine chromosome analysis, are a major cause of human malformation and mental retardation. Novel high-resolution, whole-genome technologies can improve the diagnostic detection rate of these small chromosomal abnormalities. Array-based comparative genomic hybridization allows such a high-resolution screening by hybridizing differentially labeled test and reference DNAs to arrays consisting of thousands of genomic clones.
View Article and Find Full Text PDFAll invasive testicular germ cell tumors of adolescents and adults (TGCTs), that is, seminomas and nonseminomas, show gain of 12p sequences, mostly as isochromosomes. Although several candidate genes have been suggested, the relevant gene(s) have not been identified yet. About 10% of testicular seminomas, however, show a more restricted amplification of the 12p11.
View Article and Find Full Text PDFDeletions of the long arm of chromosome 18 occur in approximately 1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in approximately 66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom 18 had microscopically visible 18q deletions.
View Article and Find Full Text PDFBackground: Based on genetic studies in families with hereditary renal Mg(2+) reabsorption disorders, several genes were shown to be involved in renal Mg(2+) transport. Mutations in the CLDN16 gene were found to underlie autosomal recessive hypomagnesaemia associated with hypercalciuria and nephrocalcinosis. The FXYD2 gene was implicated in autosomal dominant renal Mg(2+) wasting associated with hypocalciuria.
View Article and Find Full Text PDFGitelman's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. This disorder results from mutations in the thiazide-sensitive NaCl cotransporter (NCC). To elucidate the functional implications of mutations associated with this disorder, metolazone-sensitive (22)Na(+) uptake, subcellular localization, and glycosidase-sensitive glycosylation of human NCC (hNCC) were determined in Xenopus laevis oocytes expressing FLAG-tagged wild-type or mutant hNCC.
View Article and Find Full Text PDFWe report clinical data of a female patient with Bartter's syndrome who was initially diagnosed with idiophatic hypercalciuria and, subsequently, with hyperprostaglandin E, syndrome. The patient was born after premature delivery with a history of polyhydramnios. During the first two years of life, in spite of evidence for significant failure to thrive, polyuria and special tendency to dehydration, she had no hypokalemia.
View Article and Find Full Text PDFNed Tijdschr Geneeskd
April 1999
Objective: To describe the transmission of hepatitis C virus (HCV) in a dialysis centre in the Netherlands, to analyse risk factors and to redefine additional preventive measures.
Design: Descriptive.
Methods: The data of patients attending the dialysis centre of the Deventer Hospital, the Netherlands, who had participated in a national prospective survey on the epidemiology of HCV among Dutch dialysis patients, were examined.