Miracle-dz/UniFAR-FTUs huggingface dataset:
Standards of Practice for Neurofeedback and Neurotherapy: A Position Paper of the International Society for Neurofeedback & Research

This position paper of the International Society for Neurofeedback and Research (ISNR) sets forth standards and guidelines for the practice of neurofeedback and neurotherapy. Issues discussed include competency, qualifications of practitioners, scope of practice, informed consent, pretreatment assessment, standards for remote training, record keeping and billing, accountability, standards for practitioner training and qualifications to be trained, adequate supervision and coaching of training sessions, ethical advertising, standards for professional societies, and standards for those who sell and manufacture neurofeedback equipment.
Presentation and outcome of microbial keratitis in Ilorin, Nigeria.

Aim: To determine the presentation and outcome of microbial keratitis among patients at University of Ilorin Teaching Hospital (UITH) in Ilorin, Nigeria. Methods: A 12-month, prospective, hospital-based longitudinal study was conducted by examining all patients with clinical features of infective keratitis, who met the inclusion criteria. A posttreatment evaluation was done at 6 weeks in all cases, during which visual acuity and any complications were re-assessed. The outcome measures included interval between onset and presentation, extent of corneal involvement and final visual acuity. The data was analysed with the SPSS version 20.0 software. Results: Fifty-five eyes of 54 patients were studied. There were 32 males (59.3%) and 22 females (40.7%). The mean age was 36.9 years (± 12.1). The predisposing factors were trauma in 30 (55.6%) cases, self-medication with topical steroids in 12 (22.2%) and the use of traditional eye Original Research Article Saka et al.; BJMMR, 6(8): 795-803, 2015; Article no.BJMMR. 2015.253 796 medication in 12 (22.2%). All of the participants presented with pain, tearing, photophobia and reduction in vision. The right eye was involved in 37 patients (67.2%). The presenting visual acuity in the affected eyes was 6/60 or less in 31 (56.4%), 6/60–6/24 in 18 (32.7%) and 6/6–6/18 in 6 eyes (10.9%). At 6-week follow-up, 5 eyes (9.1%) had <6/60 visual acuity, 40 (72.7%) had 6/60– 6/24 and 10 (18.2%) had 6/6–6/18.The risk factors for poor outcome were a centrally located lesion (p=0.018), an area of corneal involvement greater than 4mm (p=0.007) and a lesion affecting the deeper layers of the cornea (p=0.002). Conclusion: Microbial keratitis is a significant cause of ocular morbidity, and public eye-health education is highly desirable as a preventive measure.
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion

Hereditary fructose intolerance (HFI) is an autosomal recessive metabolic disease caused by impaired functioning of human liver aldolase (ALDOB). At least 54 subtle/point mutations and only two large intragenic deletions have been found in the ALDOB gene. Here we report two novel ALDOB variants (p.R46W and p.Y343H) and an intragenic deletion that we found in patients with suspected HFI. The residual catalytic activity of the recombinant p.R46W and p.Y343H variants toward F1P was particularly altered. We also characterized a large intragenic deletion that we found in six unrelated patients. This is the first report of six unrelated patients sharing the same ALDOB deletion, thus indicating a founder effect for this allele in our geographic area. Because this deletion involves ALDOB exon 5, it can mimic worldwide common pathogenic genotypes, that is, homozygous p.A150P and p.A175D. Finally, the identification of only one ALDOB mutation in symptomatic patients suggests that HFI symptoms can, albeit rarely, appear also in heterozygotes. Therefore, an excessive and continuous fructose dietary intake may have deleterious effects even in apparently asymptomatic HFI carriers. Hum Mutat 31:–10, 2010. © 2010 Wiley‐Liss, Inc.
Pszichológiai tényezők irritábilis bél szindrómában: a megküzdés és a kötődés vizsgálata

A vizsgalatban az irritabilis bel szindroma (IBS) hattereben huzodo feltetelezett pszichologiai tenyezők kozul a megkuzdes es a kotődes szerepet vizsgaltuk abbol kiindulva, hogy mindkettő szerepelhet a stressz betegsegkeltő hatasainak kivedeseben. Felteteleztuk, hogy az IBS-betegekre a megkuzdesi modok megvaltozott profilja, a korai anya-gyerek kapcsolat zavara, illetve ritkabb biztonsagos kotődesi stilus jellemző, es ezek a kulonbsegek osszefuggnek. A vizsgalt 3 csoport, IBS-, colitis ulcerosas (CU) betegek, valamint egeszseges kontroll­szemelyek harom kerdőivet toltottek ki: a Szorongas Lekuzdesi Mod Preferencia kerdőivet, a Szulői Banasmod Kerdőiv(H-PBI) anyara vonatkozo reszet, valamint a Kotődes Kerdőiv (Relationship Questionnaire) szerzők altal roviditett, magyarra forditott valtozatat. Eredmenyeink alapjan az IBS-csoport kevesbe hasznalja a problemafokuszu megkuzdesi modot, valamint a figyelemelterelest es az emociofokuszt a szorongassal valo megkuzdesben, de nem mutat tobb maladaptiv strategiat, m.
Decision-making for living kidney donors: an instinctual response to suffering and death

Abstract This paper presents a sub-set of findings from the first interview (T1) of an Australian longitudinal study that documents the living donor's experience with renal transplant. There has been limited Australian research on this topic to date. A qualitative methodological approach was used, involving open-ended interviews with prospective living kidney donors (n = 20) from the Renal Transplantation Unit at the Princess Alexandra Hospital in Brisbane, Queensland, Australia. The interviews were analysed using qualitative research methods of coding and thematic analysis. A significant majority of participants reported that the decision to become a living kidney donor was a positive, easy and spontaneous decision. It was driven by their natural instincts and they offered to be a donor at the earlier opportunity, rather than waiting to be asked. The offer was based on their desire to relieve the recipient's suffering and possible death associated with dialysis and kidney failure. While concerns associated with the medical operation for donation (nephrectomy) were a consideration, this was significantly overshadowed by their desire to improve the recipient's quality of life and avoid their possible death. In the face of such suffering and death, the donation of a kidney was considered ‘no big deal’. Such findings can be used to inform the assessment process for live donor screening.
Effects of high-intensity interval training on canoeing performance

Abstract The purpose of this study was to compare the effects of high-intensity interval training (HIIT) and moderate-intensity continuous training (MICT) utilizing a canoeing ergometer on endurance determinants, as well as aerobic and anaerobic performances among flat-water canoeists. Fourteen well-trained male flat-water canoeists were divided into an HIIT group or an MICT group. All subjects performed a continuous graded exercise test (GXT) and three fixed-distance (200, 500, and 1000 m) performance tests on a canoeing ergometer to determine canoeing economy, peak oxygen uptake (VO2peak), and power at VO2peak, and to calculate the critical velocity (CV) and anaerobic work capacity before and after the training programmes. The training programme involved training on a canoeing ergometer three times per week for four weeks. HIIT consisted of seven 2 min canoeing bouts at an intensity of 90% VO2peak separated by 1 min of rest. The MICT group was trained at an intensity of 65% VO2peak continuously for 20 min. After four weeks of training, performance in the 200-m distance test and the power at VO2peak significantly improved in the HIIT group; performance in the 500 m and 1000 m distances and CV significantly improved in the MICT group. However, all variables were not significantly different between groups. It is concluded that HIIT for four weeks is an effective training strategy for improvement of short-distance canoeing performance. In contrast, MICT improves middle-distance canoeing performances and aerobic capacity.
Prevalencia de síndrome metabólico y su asociación con el índice de masa corporal en universitarios

Fundamento y objetivo: Son pocos los estudios realizados sobre el sindrome metabolico (SM) en la poblacion joven adulta de Mexico. En el presente estudio se ha evaluado la prevalencia de SM y sus componentes entre varones y mujeres, asi como el papel del indice de masa corporal (IMC) en el estudio de SM, en una muestra de universitarios de Veracruz (Mexico). Sujetos y metodo: Se ha realizado un estudio transversal analitico en 402 estudiantes de 20 a 29 anos de nuevo ingreso de la Universidad Veracruzana. Se determinaron: circunferencia de la cintura, presion arterial sistolica y diastolica, glucosa, trigliceridos y colesterol unido a lipoproteinas de alta densidad (cHDL) en suero. Para el diagnostico de SM se aplicaron los criterios actualizados del Adult Treatment Panel III del National Cholesterol Education Program (NCEP-ATP-III). Resultados: Los varones presentaron valores mas elevados de circunferencia de cintura, peso, talla, IMC, trigliceridos y presion arterial sistolica y diastolica (p < 0,005 en todos). La prevalencia de obesidad central fue del 9,5%; la de hipertrigliceridemia, del 13,2%; la de concentracion baja de cHDL, del 28,9%; la de hipertension arterial, del 9,2%, y la de hiperglucemia, del 6%. El 48% presento de uno a 4 criterios del NCEP-ATP-III para SM. La prevalencia global de SM fue del 3,7%. La inclusion del IMC incremento la prevalencia de SM en estudiantes con sobrepeso u obesidad (el 8,2 frente al 0,8%) (x2 = 14,6; p < 0,001; odds ratio = 10,8; intervalo de confianza del 95%, 2,4-48,8). Conclusiones: La inclusion del IMC mejoro el diagnostico de SM en poblacion joven adulta. Casi la mitad de la poblacion presento al menos un factor de riesgo de SM, por lo que se subraya la importancia de implementar acciones preventivas para el SM en poblacion juvenil y desarrollar estudios longitudinales acerca de sus efectos en la edad adulta.
Snap-N-Send: A valid and reliable method for assessing the energy intake of elite adolescent athletes

Abstract To ensure that elite adolescent athletes meet their unique training, growth and maturation demands, it is imperative to have access to valid measures of energy intake. Contemporary methods demand close attention-to-detail, meaning that athletes often do not fully adhere to real-time protocols. This study represents the first investigation of a real-time dietary assessment designed using a comprehensive behaviour change framework (COM-B). In a crossover design, 12 elite adolescent male rugby players recorded their energy intake via an estimated food diary (est-FD) and photography-based mobile assessment (‘Snap-n-Send’), combined with a 24-h dietary recall interview. Two 4-day assessment periods were divided into three separate recording environments: 96 h free-living and researcher-observed; 72 h free-living and 10 h researcher-observed. Assessment periods were one month apart. All foods and beverages were provided and weighed by the research team to quantify actual intakes. ‘Snap-n-Send’ reported a small mean bias for under-reporting across 96 h (−0.75 MJ day−1; 95% confidence interval [CI] for bias = −5.7% to −2.2%, p < .001), 72 h (−0.76 MJ day−1; 95% CI for bias = −5.6% to −2.1%, p = .004) and 10 h (−0.72 MJ day−1; 95% CI for bias = −8.1% to −0.1%; p = .067) environments. The est-FD reported a moderate mean bias for under-reporting across 96 h (−2.89 MJ day−1; 95% CI for bias = −17.9% to −10.2%; p < .001), 72 h (−2.88 MJ day−1; 95% CI for bias = −17.9% to −10.1%; p < .001) and 10 h (−2.52 MJ day−1;−26.1% to −5.3%; p = .023) environments. Results evidence the ability of ‘Snap-n-Send’ to accurately assess the diet of elite adolescent athletes, signalling the exciting promise of this comprehensive and theoretical behavioural approach within valid dietary assessment.
Understanding cervical cancer in the context of developing countries

Cancer is one of the leading causes of deaths worldwide. Among the women, gynecological cancers are most common. Cervical cancer is a main gynecological cancer of the women. The global burden of cervical cancer is disproportionately high among the developing countries where 85 per cent of the estimated 493, 000 new cases and 273, 000 deaths occur worldwide. There are several dimensions of the problem. Cervical cancer is a problem where people are poor, where the socio-economic status of the women is low and sometimes specific ethnicity also posses additional risk to the women to develop cervical cancer. Human papillomavirus infection is a main risk factor for the cervical cancer however there are some other factors which increase the risk. Among them some are number of sexual partners, age of first sexual intercourse, infection of sexually transmitted diseases, use of hormonal contraceptives, parity, age, smoking, food and diet. Apart from these factors, some other issues, such as policy on cancer, capacity of health system, socio-economic and cultural factors and awareness among the women are also associated with the cervical cancer related morbidity and mortality across the developing countries. There some interventions which give promising results in terms of reducing cervical cancer related morbidity and mortality. Among them visual inspection of cervix with acetic acid followed by treatment is one such effective method.
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population‐based genetic screening has not been conducted. We therefore completed unbiased screening for TECTA mutations in a Spanish cohort of 372 probands from ADNSHL families. Three additional families (Spanish, Belgian, and English) known to be linked to DFNA8/12 were also included in the screening. In an additional cohort of 835 American ADNSHL families, we preselected 73 probands for TECTA screening based on audiometric data. In aggregate, we identified 23 TECTA mutations in this process. Remarkably, 20 of these mutations are novel, more than doubling the number of reported TECTA ADNSHL mutations from 13 to 33. Mutations lie in all domains of the α‐tectorin protein, including those for the first time identified in the entactin domain, as well as the vWFD1, vWFD2, and vWFD3 repeats, and the D1–D2 and TIL2 connectors. Although the majority are private mutations, four of them—p.Cys1036Tyr, p.Cys1837Gly, p.Thr1866Met, and p.Arg1890Cys—were observed in more than one unrelated family. For two of these mutations founder effects were also confirmed. Our data validate previously observed genotype–phenotype correlations in DFNA8/12 and introduce new correlations. Specifically, mutations in the N‐terminal region of α‐tectorin (entactin domain, vWFD1, and vWFD2) lead to mid‐frequency NSHL, a phenotype previously associated only with mutations in the ZP domain. Collectively, our results indicate that DFNA8/12 hearing loss is a frequent type of ADNSHL. Hum Mutat 32:1–10, 2011. © 2011 Wiley‐Liss, Inc.
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients

Homocystinuria due to CBS deficiency is a rare autosomal recessive disorder characterized by elevated plasma levels of homocysteine (Hcy) and methionine (Met). Here we present the analysis of 22 unrelated patients of different geographical origins, mainly Spanish and Argentinian. Twenty‐two different mutations were found, 10 of which were novel. Five new mutations were missense and five were deletions of different sizes, including a 794‐bp deletion (c.532−37_736 + 438del794) detected by Southern blot analysis. To assess the pathogenicity of these mutations, seven were expressed heterologously in Escherichia coli and their enzyme activities were assayed in vitro, in the absence and presence of the CBS activators PLP and SAM. The presence of the mutant proteins was confirmed by Western blotting. Mutations p.M173del, p.I278S, p.D281N, and p.D321V showed null activity in all conditions tested, whereas mutations p.49L, p.P200L and p.A446S retained different degrees of activity and response to stimulation. Finally, a minigene strategy allowed us to demonstrate the pathogenicity of an 8‐bp intronic deletion, which led to the skipping of exon 6. In general, frameshifting deletions correlated with a more severe phenotype, consistent with the concept that missense mutations may recover enzymatic activity under certain conditions.Hum Mutat 32:1–8, 2011. © 2011 Wiley‐Liss, Inc.
A Variant of Lymphomatoid Papulosis Simulating Primary Cutaneous Aggressive Epidermotropic CD8+ Cytotoxic T-cell Lymphoma. Description of 9 Cases

Lymphomatoid papulosis (LyP) is a recurrent, self-healing eruption belonging to the spectrum of cutaneous CD30+lymphoproliferative disorders. Three main histologic subtypes of LyP are recognized: type A (histiocytic), type B (mycosis fungoides—(MF)-like), and type C (anaplastic large cell lymphoma–like). We reviewed 26 biopsies from 9 patients (M:F=6:3, median age: 29; mean age 27,2; age range 10 to 38) who presented with clinical features typical of LyP but with histopathologic aspects that resembled primary cutaneous aggressive epidermotropic CD8+cytotoxic T-cell lymphoma. In all but 1 case atypical lymphoid cells showed expression of CD30, and in 8 of 9 cases a T-cell cytotoxic phenotype could be observed (βF1+, CD3+, CD4−, CD8+). Expression of at least 1 cytotoxic marker (TIA-1, granzyme B) was observed in all cases. Polymerase chain reaction analysis of the T-cell receptor genes revealed a monoclonal rearrangement in 2 of 5 cases tested. Follow-up data available for 8 patients (mean follow-up time: 84 mo, median: 32.5 mo; range: 1 to 303 mo) revealed that none of them developed systemic involvement or signs of other cutaneous lymphomas. This cytotoxic variant of LyP may be histopathologically indistinguishable from primary cutaneous aggressive epidermotropic CD8+ cytotoxic T-cell lymphoma, and may be the source of pitfalls in the diagnosis and classification. We propose the term LyP type D for this unusual variant of the disease. Accurate clinicopathologic correlation is required in this setting, with crucial implications regarding prognosis and management of patients.
A cis‐acting regulatory variation of the estrogen receptor α (ESR1) gene is associated with hepatitis B virus‐related liver cirrhosis

The hepatic fibrogenesis and sexual dimorphism of hepatitis B virus‐related liver cirrhosis (HBV‐LC) are related to estrogen and its receptors. Abnormal expression of estrogen receptor α (ESR1) is implicated in the development of cirrhosis in both animal models and humans. Here, we examine whether the ESR1 polymorphisms are related to HBV‐LC risk among chronic HBV carriers, and we investigate the functional significance of positively associated polymorphisms. A total of 2,404 unrelated Chinese HBV carriers were recruited to conduct the two‐stage designed case–control study. Two ESR1 haplotype tagging polymorphisms, c.30T>C (rs2077647) and c.453‐397T>C (rs2234693), were genotyped in 1,285 patients with HBV‐LC and in 1,119 asymptomatic HBV carriers. We observed a significantly increased susceptibility to HBV‐LC associated with the c.30C allele (P = 4.2×10−8), c.453‐397C allele (P = 2.0×10−8), and [c.30C; c.453‐397C] haplotype (Dominant model, P = 8.85×10−10, odds ratio = 1.50, 95% CI 1.32∼1.71) compared with the T alleles and (c.30T; c.453‐397T) haplotype of c.30T>C and c.453‐397T>C polymorphisms, respectively. Functional analyses were conducted to verify the biological functions of the associated genetic variations and showed that the c.453‐397T>C polymorphism is a novel c.453‐397C allele‐specific and c‐myb‐dependent enhancer‐like cis‐acting regulatory variation and could be part of the genetic variations underlying the susceptibility of individuals to HBV‐LC. Hum Mutat 32:1128–1136, 2011. ©2011 Wiley‐Liss, Inc.
Functional characterization of splicing and ligand‐binding domain variants in the LDL receptor

Familial hypercholesterolemia (FH) is an autosomal dominant disorder mostly caused by mutations in the LDLR gene. Although the detection of functional mutations in the LDLR gene provides an unequivocal diagnosis of the FH condition, there are many variants whose pathogenicity is still unknown. The aims of this study were to set up a rapid method to determine the effect of LDLR mutations, thereby providing an accurate diagnosis of FH, and to functionally characterize six LDLR mutations detected at high frequency by the LIPOchip® platform (Progenika Biopharma, Spain) in the Spanish population. LDLR expression and activity were analyzed by one‐single‐step flow cytometry assay and confocal microscopy. Splicing effects were determined by sequencing reverse transcription polymerase chain reaction products. The analysis of three heterozygous variants with a single point mutation within the low‐density lipoprotein binding domain allowed us to classify the c.806G>A variant as nonpathogenic, and c.862G>A and c.895G>A variants as causative of FH. The results obtained for three variants affecting donor splice sites of the LDLR mRNA, c.313+2dupT, c.1186+5G>A, and c.1845+1G>C, demonstrated that these mutations are pathogenic. These results expand our knowledge of mutations responsible for FH, providing an accurate diagnosis and leading to early treatment to reduce the risk of premature cardiovascular events. Hum Mutat 33:232–243, 2012. © 2011 Wiley Periodicals, Inc.
Hansa: An automated method for discriminating disease and neutral human nsSNPs

Variations are mostly due to nonsynonymous single nucleotide polymorphisms (nsSNPs), some of which are associated with certain diseases. Phenotypic effects of a large number of nsSNPs have not been characterized. Although several methods have been developed to predict the effects of nsSNPs as “disease” or “neutral,” there is still a need for development of methods with improved prediction accuracies. We, therefore, developed a support vector machine (SVM) based method named Hansa which uses a novel set of discriminatory features to classify nsSNPs into disease (pathogenic) and benign (neutral) types. Validation studies on a benchmark dataset and further on an independent dataset of well‐characterized known disease and neutral mutations show that Hansa outperforms the other known methods. For example, fivefold cross‐validation studies using the benchmark HumVar dataset reveal that at the false positive rate (FPR) of 20% Hansa yields a true positive rate (TPR) of 82% that is about 10% higher than the best‐known method. Hansa is available in the form of a web server at http://hansa.cdfd. org.in:8080. Hum Mutat 33:332–337, 2012. © 2011 Wiley Periodicals, Inc.
Neurological and neuropsychological symptoms after cardiac arrest

In 1 9 7 8 8 2 about 400 patients with an out-of-hospital cardiac arrest were brought to Helsinki University Hospital, and about 100 of these survived. After neurological consultation specific neuropsychological examinations were made to ten of these patients after 3-21 weeks (Md 4,5 weeks) and control examinations were made to nine patients after 2,5-18 months (Md 7 months) from cardiac arrest.