Tag: pubmed

Mol Genet Genomic Med. 2021 Nov 26:e1844. doi: 10.1002/mgg3.1844. Online ahead of print.

ABSTRACT

BACKGROUND: Variants in the ATP binding cassette protein subfamily D member 1 (ABCD1) gene are known to cause X-linked adrenoleukodystrophy (X-ALD). This study focused on the characteristics of ABCD1 variants in Chinese X-ALD families and elucidated the value of genetic approaches for X-ALD.

METHODS: 68 male probands diagnosed as X-ALD were screened for ABCD1 variants by the Sanger sequencing of polymerase chain reaction (PCR) products and multiplex ligation-dependent probe amplification (MLPA) combined with long-range PCR. Prenatal diagnosis was performed in 20 foetuses of 17 probands’ mothers. Descriptive statistics were used to summarise the gene variants and prenatal diagnosis characteristics and outcomes.

RESULTS: This study allowed the identification of 61 variants occurring in 68 families, including 58 single nucleotide variants or small deletion/insertion variants and 3 large deletions. Three probands with no variants detected by next-generation sequencing were found to have variants by PCR-sequencing. Prenatal diagnosis found that 10 of the 20 foetuses had no variants in ABCD1.

CONCLUSION: PCR primers that do not amplify the pseudogenes must be used for PCR-sequencing. MLPA combined with long-range PCR can detect large deletions and insertions, which are usually undetectable by PCR-sequencing. Prenatal diagnosis could help to prevent the birth of infants with X-ALD.

PMID:34826210 | DOI:10.1002/mgg3.1844

Autism Res. 2021 Nov 26. doi: 10.1002/aur.2645. Online ahead of print.

ABSTRACT

This study was performed to determine (a) the age at which autism spectrum disorder (ASD) is first diagnosed in Ugandan children receiving mental health services, (b) whether age at diagnosis varies by sex and clinical presentation, and (c) the average age of ASD diagnosis in children manifesting comorbid conditions. A retrospective chart review was performed and demographic as well as clinical data were collected from children with ASD diagnoses who attended two mental health clinics in Uganda between 2014 and 2019. Descriptive statistics such as percentages, means, and standard deviations were used to summarize the data. Independent t-test was also performed to determine differences in the mean age of diagnosis between males and females. Two hundred and thirty-seven (156 males, 81 females) children with ASD were identified. The average age of ASD diagnosis was (6.9 ± 4.0) years. A statistically significant difference in age of ASD diagnosis was found between males and females (t = -2.106, p = 0.036), such that on average females received a diagnosis at least 1 year later than males. Of the 237 participants, 53.6% were identified with ASD only, 16.0% had ASD and ADHD, 10.5% were diagnosed with ASD and epilepsy, and 7.2% had a diagnosis of complex ASD. The results confirm delays in access to ASD diagnosis and suggest that females are more likely to receive a ASD diagnosis later than males within the Ugandan context. ASD awareness should be intensified to improve public or professional knowledge about ASD to enhance early identification in Uganda.

PMID:34826197 | DOI:10.1002/aur.2645

Physiol Rep. 2021 Nov;9(22):e15067. doi: 10.14814/phy2.15067.

ABSTRACT

Postural control is often quantified by recording the trajectory of the center of pressure (COP)-also called stabilogram-during human quiet standing. This quantification has many important applications, such as the early detection of balance degradation to prevent falls, a crucial task whose relevance increases with the aging of the population. Due to the complexity of the quantification process, the analyses of sway patterns have been performed empirically using a number of variables, such as ellipse confidence area or mean velocity. This study reviews and compares a wide range of state-of-the-art variables that are used to assess the risk of fall in elderly from a stabilogram. When appropriate, we discuss the hypothesis and mathematical assumptions that underlie these variables, and we propose a reproducible method to compute each of them. Additionally, we provide a statistical description of their behavior on two datasets recorded in two elderly populations and with different protocols, to hint at typical values of these variables. First, the balance of 133 elderly individuals, including 32 fallers, was measured on a relatively inexpensive, portable force platform (Wii Balance Board, Nintendo) with a 25-s open-eyes protocol. Second, the recordings of 76 elderly individuals, from an open access database commonly used to test static balance analyses, were used to compute the values of the variables on 60-s eyes-open recordings with a research laboratory standard force platform.

PMID:34826208 | DOI:10.14814/phy2.15067

Liver Transpl. 2021 Nov 26. doi: 10.1002/lt.26375. Online ahead of print.

ABSTRACT

BACKGROUND & AIMS: Burnout among transplant hepatologists has not been well-characterized. The goal of this study was to describe the prevalence and predictors of burnout among practicing transplant hepatologists in the United States.

METHODS: We designed a 69-item survey, including the Maslach Burnout Inventory – Human Services Survey (MBI-HSS) and questions on provider demographics, practice characteristics, and psychological factors. The survey was administered to practicing U.S. transplant hepatologists between October and December 2019. We described burnout using MBI subscales [emotional exhaustion (EE), depersonalization (DP), personal accomplishment (PA)] and determined significant predictors of burnout, which we defined as high EE, using univariate and multivariate analyses.

RESULTS: A total of 185 transplant hepatologists completed the survey (response rate= 25% of 738 practicing transplant hepatologists in the US). Forty percent reported high EE, while 17% and 16% reported high DP and low PA, respectively. On multivariate analysis, respondents with more than five colleagues (odds ratio [OR], 95% confidence interval [CI]: 0.44 (0.23-0.84)), reporting adequate time for outpatient visits (OR 0.42 [0.22-0.80]), reporting greater comfort with their clinical caseload (OR 0.58 [0.37-0.91]) and reporting higher confidence in their prior training (OR 0.59 [0.29-0.86]) had a lower likelihood of high EE. Working six or more hours from home outside of work per week (OR 2.04, [1.07-3.89]) predicted a higher likelihood of burnout. Compensation, age, gender, career phase, caregiver status, and transplant center volume did not predict burnout.

CONCLUSION: Forty percent of transplant hepatologists experienced burnout, predicted mostly by factors related to work-time distribution, peer support, and affect. These findings should prompt development of system-level initiatives.

PMID:34826182 | DOI:10.1002/lt.26375

Mol Ecol Resour. 2021 Nov 26. doi: 10.1111/1755-0998.13558. Online ahead of print.

ABSTRACT

Polyploidy plays an important role in the evolution of eukaryotes, especially for flowering plants. Many of ecologically or agronomically important plant or crop species are polyploids, including sycamore maple (tetraploid), the world 2^nd and 3^rd largest food crops wheat (hexaploid) and potato (tetraploid) as well as economically important aquaculture animals such as Atlantic salmon and trout. The next generation sequencing data enables to allocate genotype at a sequence variant site, known as genotyping by sequencing (GBS). GBS has stimulated enormous interests in population based genomics studies in almost all diploid and many polyploid organisms. DNA sequence polymorphisms are codominant and thus fully informative about the underlying genotype at the polymorphic site, making GBS a straightforward task in diploids. However, sequence data may usually be uninformative in polyploid species, making GBS a far more challenging task in polyploids. This paper presents novel and rigorous statistical methods for predicting the number of sequence reads needed to ensure accurate GBS at a polymorphic site bared by the reads in polyploids and shows that a dozen of reads can ensure a probability of 95% to recover all constituent alleles of any tetraploid genotype but several hundreds of reads are needed to accurately uncover the genotype with probability confidence of 90%, subverting the proposition of GBS using low coverage sequence data in the literature. The theoretical prediction was tested by use of RAD-seq data from tetraploid potato cultivars. The paper provides polyploid experimentalists with theoretical guides and methods for designing and conducting their sequence-based studies.

PMID:34826191 | DOI:10.1111/1755-0998.13558

Dermatol Ther. 2021 Nov 26:e15233. doi: 10.1111/dth.15233. Online ahead of print.

ABSTRACT

Intralesional methotrexate (il-MTX) has been used in cutaneous squamous cell carcinoma (cSCC) achieving important reductions in tumor size. However, there is a lack of controlled studies on this regard. Objetive The primary objetive was to analyze the effect of il-MTX on tumor size in cSCC. As a secondary objetive, we evaluated its impact on the surgical approach. We conducted a prospective cohorts study that included 200 patients with histologically confirmed cSCC. Patients in Group 1 (Cases) received neoadjuvant treatment with il-MTX prior to surgery. Patients in Group 2 (Controls) underwent scheduled surgery without prior neoadjuvant therapy. Clinical measurements of lesions were made at the time of inclusion in the study and before surgery. No intergroup statistical differences were found between the assessed variables. In Group 1, tumor size reduction occurred in 93% of the patients after il-MTX therapy. Tumor surface was reduced by 54%. Complex reconstructions were needed in 15% of this patients. In Group 2, tumor surface increased by 33.1% and complex reconstructions were needed in 40% of patients. Intergroup differences were statistically significant (p < 0.001). Neoadjuvant Il-MTX therapy achieves very important tumor size reduction and significantly simplifies surgical treatment. This article is protected by copyright. All rights reserved.

PMID:34826181 | DOI:10.1111/dth.15233

J Dent Educ. 2021 Nov 26. doi: 10.1002/jdd.12832. Online ahead of print.

ABSTRACT

OBJECTIVES: This study aims to describe surgical graduation requirements in US dental schools in 2020, including changes made due to the COVID-19 pandemic.

METHODS: Representatives of Commission on Dental Accreditation-approved predoctoral dental programs in the US (n = 66) received a 13-item questionnaire about operative and observational surgical requirements. Responses were assigned values to tabulate a surgical score (zero- to eight-point scale) as a proxy for required surgical experience, and statistical analyses were performed to explore for predictors.

RESULTS: Surveys were returned by 97% (64/66) of programs with complete data from 62.5% of responding institutions. In periodontics, 6.8% of programs require students to perform periodontal surgery, 63.8% to assist, and none require a competency assessment in periodontal surgery. In oral and maxillofacial surgery, 23.3% of programs have numerical requirements in performance of surgical extractions, 35% require an operating room experience, and 51.9% have a competency assessment involving a surgical procedure. Modifications to surgical and nonsurgical graduation requirements due to COVID-19 were reported by 51.6% and 52.5% of programs, respectively. The mean surgical score was 1.73 ± 1.2 (range = 0-4) of eight possible points. This was not predicted by class size or the presence of postgraduate surgical programs. The presence of postgraduate surgical programs roughly doubled the likelihood of requiring an observational experience in surgery.

CONCLUSIONS: As of 2020, US dental programs require a small fraction of surgical experiences available to students. Class size is not a predictor of required surgical experience. The presence of postgraduate surgical programs increased the likelihood of required observational experiences.

PMID:34826150 | DOI:10.1002/jdd.12832

Hum Brain Mapp. 2021 Nov 26. doi: 10.1002/hbm.25722. Online ahead of print.

ABSTRACT

Ineffective use of adaptive cognitive strategies (e.g., reappraisal) to regulate emotional states is often reported in a wide variety of psychiatric disorders, suggesting a common characteristic across different diagnostic categories. However, the extent of shared neurobiological impairments is incompletely understood. This study, therefore, aimed to identify the transdiagnostic neural signature of disturbed reappraisal using the coordinate-based meta-analysis (CBMA) approach. Following the best-practice guidelines for conducting neuroimaging meta-analyses, we systematically searched PubMed, ScienceDirect, and Web of Science databases and tracked the references. Out of 1,608 identified publications, 32 whole-brain neuroimaging studies were retrieved that compared brain activation in patients with psychiatric disorders and healthy controls during a reappraisal task. Then, the reported peak coordinates of group comparisons were extracted and several activation likelihood estimation (ALE) analyses were performed at three hierarchical levels to identify the potential spatial convergence: the global level (i.e., the pooled analysis and the analyses of increased/decreased activations), the experimental-contrast level (i.e., the analyses of grouped data based on the regulation goal, stimulus valence, and instruction rule) and the disorder-group level (i.e., the analyses across the experimental-contrast level focused on increasing homogeneity of disorders). Surprisingly, none of our analyses provided significant convergent findings. This CBMA indicates a lack of transdiagnostic convergent regional abnormality related to reappraisal task, probably due to the complex nature of cognitive emotion regulation, heterogeneity of clinical populations, and/or experimental and statistical flexibility of individual studies.

PMID:34826162 | DOI:10.1002/hbm.25722

Environ Sci Pollut Res Int. 2021 Nov 26. doi: 10.1007/s11356-021-17434-1. Online ahead of print.

ABSTRACT

Study was conducted utilizing a confirmed medication adherence scale to measure the socio-demographic profile, self-care, and medication adherence among Type-2 Diabetes Mellitus (T2DM) patients. The Fisher exact test was used to calculate the level of significance (P) using SPSS (Statistical Package for Social Sciences) Version 21.0. The research presented in this paper uses statistical evidence to assess the numerous aspects that may be linked to medication adherence. A prospective observational study was undertaken on participants visiting the outpatient department for 6 months at a North Indian tertiary care hospital to investigate the pattern and quality of life associated with T2DM. The study examined those who had T2DM for more than 2 years. At the time of the visit, subjects were interviewed using socio demographic information and a structured verified questionnaire. Fisher exact test was used to identify the parameters that were linked to medication adherence, with P0.05 being regarded statistically significant. A total of 350 T2DM outpatients were followed up on, with a male-to-female ratio of 1:0.95. A 13-item medication adherence scale was created and tested, revealing that approximately 32% of participants demonstrated high adherence to anti-diabetic drugs (score = 13). The P value was obtained using Fisher exact test for educational status, occupation, marital status, and the quantity and kind of anti-diabetic drugs was found to be 0.05. Only 32% of the respondents took their diabetes medication as prescribed, indicating the need to improve adherence among T2DM patients. The quantity and kind of anti-diabetic drugs, as well as the patients’ educational status, occupation, and marital status, all demonstrated a statistically significant relationship with medication adherence.

PMID:34826085 | DOI:10.1007/s11356-021-17434-1

Eur Geriatr Med. 2021 Nov 26. doi: 10.1007/s41999-021-00592-3. Online ahead of print.

ABSTRACT

INTRODUCTION: In 2019, The EWGSOP2 group made updates on the definition and diagnosis of sarcopenia. The aim of this study is to determine the possible risk factors for chemotherapy dose-limiting toxicity (DLT).

METHODS: Newly diagnosed gastrointestinal (GI) cancer patients were included in this prospective observational study. Chemotherapy DLTs were recorded in patients receiving platinum-based therapy. The patients were divided into two groups according to the current sarcopenia criteria.

RESULTS: 75 patients were included in the final analysis. Chemotherapy DLT occurred in 52% (n = 39) of all patients who received platinum-based chemotherapy. DLT rates were 78.9% and 42.9% in sarcopenic and non-sarcopenic patients, respectively (p = 0.007). According to the results of the multivariate analysis, the only sarcopenia was found as a statistically significant risk factor for DLT.

CONCLUSION: Assessment of sarcopenia evaluated with the current EWGSOP2 diagnostic criteria is useful in predicting chemotherapy DLT development in patients with a diagnosis of GI cancer. In the future, current EWGSOP2 recommendations should be considered while designing a study investigating the correlation between sarcopenia and chemotoxicity.

PMID:34826111 | DOI:10.1007/s41999-021-00592-3