15 research outputs found

    A study of the effect of a support group for single custodial fathers on measures of divorce adjustment, loneliness and self concept.

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    This study was designed to investigate the effects of a support group for single custodial fathers on measures of divorce adjustment, loneliness and self concept. The support group used a small group setting with a format of information giving and discussion. The instruments used were the Fisher Divorce Adjustment Scale, the Revised UCLA Loneliness Scale, and the Tennessee Self Concept Scale. A Solomon four group design was employed. The groups identified were (1) men who attended a six-week group and completed posttest questionnaires; (2) men who completed pretest questionnaires, attended a six-week group, and completed posttest questionnaires; (3) men who completed pretest and posttest questionnaires with no intervention; and (4) men who completed posttest questionnaires only. The hypotheses that there would be no significant differences between the pretest and posttest scores on the instruments and that there would be no significant differences among the four posttest groups were analyzed in various ways. A two way MANOVA was done to test for differences on posttest scores with a follow-up 2 x 2 ANOVA (pretest sensitization x Support group for each dependent variable). A dependent measures t-test was used to analyze gains from pretest to posttest on Groups 2 and 3 separately. A Hotelling's T('2) was used on the pretest scores to test for any differences between Groups 2 and 3 with a one way MANCOVA run for any of those variables which showed some pretest differences. Twenty-seven dependent variables were analyzed with 114 tests run. Twenty-one of these tests showed significance at the .05 level while one test was significant at less than the .0001 level. A brief description of each group session is given as well as a discussion of the significant results

    The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

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    Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the Pleckstrin homology domain-interacting protein, which is part of an epigenetic modifier protein complex. Therefore, we hypothesized that PHIP haploinsufficiency may impact genome-wide DNA methylation (DNAm). We assessed the DNAm profiles of affected individuals with pathogenic and likely pathogenic PHIP variants with Infinium Methylation EPIC arrays and report a specific and sensitive DNAm episignature biomarker for Chung–Jansen syndrome. In addition, we observed similarities between the methylation profile of Chung–Jansen syndrome and that of functionally related and clinically partially overlapping genetic disorders, White–Kernohan syndrome (caused by variants in DDB1 gene) and Börjeson–Forssman–Lehmann syndrome (caused by variants in PHF6 gene). Based on these observations we also proceeded to develop a common episignature biomarker for these disorders. These newly defined episignatures can be used as part of a multiclass episignature classifier for screening of affected individuals with rare disorders and interpretation of genetic variants of unknown clinical significance, and provide further insights into the common molecular pathophysiology of the clinically-related Chung–Jansen, Börjeson–Forssman–Lehmann and White–Kernohan syndromes.</p

    Оценка эффективности комплекса методов медицинской реабилитации пациентов с двигательной дисфункцией кисти вследствие острых нарушений мозгового кровообращения

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    МЕДИЦИНСКАЯ РЕАБИЛИТАЦИЯКИСТЬ РУКИКИСТЬПСИХОМОТОРНАЯ АКТИВНОСТЬДВИГАТЕЛЬНЫХ НАВЫКОВ РАССТРОЙСТВА /РЕАБИЛРЕАБИЛИТАЦИЯ /МЕТОДЫМОЗГОВОГО КРОВООБРАЩЕНИЯ РАССТРОЙСТВА /ОСЛ /РЕАБИЛЛЕЧЕБНАЯ ГИМНАСТИКАМЕЛКАЯ МОТОРИКАЦелью исследования являлось изучение эффективности комплекса медицинской реабилитации, разработанного на основе зеркальной визуальной обратной связи, элементов двигательной терапии индуцированным ограничением, метода тренировки двигательных навыков кисти с использованием латексных резинок и авторского метода тренировки мелких моторных навыков у пациентов с двигательной дисфункцией кисти вследствие острого нарушения мозгового кровообращения различной степени выраженности. В исследовании приняли участие 62 пациента, разделенные на 2 группы сравнения, сопоставимые по полу, возрасту, реабилитационному периоду и потенциалу. Для анализа результатов использовались методы оценки эффективности медицинской реабилитации пациентов с двигательной дисфункцией кисти, утвержденные министерством здравоохранения Республики Беларусь. По результатам исследования было выявлено межгрупповое различие в восстановлении мелкой моторики, показателей кистевой динамометрии, уровне самооценки пациентом утраты функции верхней конечности, степени выраженности тревожной и депрессивной симптоматики, проявляющееся в более качественном результате у пациентов клинической группы. Также выявлено преобладание увеличений показателей и при оценке качества жизни у респондентов, проходящих предложенный комплекс методов медицинской реабилитации над пациентами контрольной группы. Разработанный комплекс, в условиях применения в соответствии с алгоритмом, позволяет более качественно по сравнению с пациентами, проходящими стандартный курс медицинской реабилитации, восстановить двигательный навык, утраченный вследствие острого нарушения мозгового кровообращения, улучшить степень самообслуживания, качества жизни и приводит к снижению выраженности тревожно-депрессивной симптоматики.Objectives. To study the efficacy of the medical rehabilitation complex developed on the basis of mirror visual feedback, elements of constraint induced movement therapy, the method of hand motor skills’ training with the use of latex rubber bands and the author’s own method of fine motor skills training in patients with motor dysfunction of the hand caused by acute cerebral circulation of different severity degree. Material and methods. The study involved 62 patients, divided into 2 comparison groups, matched by sex, age, rehabilitation period, and potential. To analyze the results we used methods for assessing the effectiveness of medical rehabilitation of patients with motor dysfunction of the hand, which were approved by the Ministry of Health of the Republic of Belarus. Results. The study revealed an intergroup difference in restoring fine motor skills, hand dynamometry indices, the patient’s self-assessment of the upper limb function loss, the severity of anxiety and depression symptoms, which manifests itself in a better result in patients of the clinical group. The prevalence of the increased indicators was also revealed when assessing the life quality of respondents undergoing the proposed complex of medical rehabilitation methods over patients of the control group. Conclusions. The developed complex, in terms of application in accordance with the algorithm, allows more qualitatively compared with patients undergoing a standard course of medical rehabilitation, to restore the motor skill lost because of acute cerebral circulation disturbance, to improve the degree of self-care, quality of life and leads to a decrease in anxiety-depression symptoms

    The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

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    Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the Pleckstrin homology domain-interacting protein, which is part of an epigenetic modifier protein complex. Therefore, we hypothesized that PHIP haploinsufficiency may impact genome-wide DNA methylation (DNAm). We assessed the DNAm profiles of affected individuals with pathogenic and likely pathogenic PHIP variants with Infinium Methylation EPIC arrays and report a specific and sensitive DNAm episignature biomarker for Chung-Jansen syndrome. In addition, we observed similarities between the methylation profile of Chung-Jansen syndrome and that of functionally related and clinically partially overlapping genetic disorders, White-Kernohan syndrome (caused by variants in DDB1 gene) and Börjeson-Forssman-Lehmann syndrome (caused by variants in PHF6 gene). Based on these observations we also proceeded to develop a common episignature biomarker for these disorders. These newly defined episignatures can be used as part of a multiclass episignature classifier for screening of affected individuals with rare disorders and interpretation of genetic variants of unknown clinical significance, and provide further insights into the common molecular pathophysiology of the clinically-related Chung-Jansen, Börjeson-Forssman-Lehmann and White-Kernohan syndromes

    Genomic investigations of unexplained acute hepatitis in children

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    Since its first identification in Scotland, over 1,000 cases of unexplained paediatric hepatitis in children have been reported worldwide, including 278 cases in the UK1. Here we report an investigation of 38 cases, 66 age-matched immunocompetent controls and 21 immunocompromised comparator participants, using a combination of genomic, transcriptomic, proteomic and immunohistochemical methods. We detected high levels of adeno-associated virus 2 (AAV2) DNA in the liver, blood, plasma or stool from 27 of 28 cases. We found low levels of adenovirus (HAdV) and human herpesvirus 6B (HHV-6B) in 23 of 31 and 16 of 23, respectively, of the cases tested. By contrast, AAV2 was infrequently detected and at low titre in the blood or the liver from control children with HAdV, even when profoundly immunosuppressed. AAV2, HAdV and HHV-6 phylogeny excluded the emergence of novel strains in cases. Histological analyses of explanted livers showed enrichment for T cells and B lineage cells. Proteomic comparison of liver tissue from cases and healthy controls identified increased expression of HLA class 2, immunoglobulin variable regions and complement proteins. HAdV and AAV2 proteins were not detected in the livers. Instead, we identified AAV2 DNA complexes reflecting both HAdV-mediated and HHV-6B-mediated replication. We hypothesize that high levels of abnormal AAV2 replication products aided by HAdV and, in severe cases, HHV-6B may have triggered immune-mediated hepatic disease in genetically and immunologically predisposed children

    Risk of COVID-19 after natural infection or vaccinationResearch in context

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    Summary: Background: While vaccines have established utility against COVID-19, phase 3 efficacy studies have generally not comprehensively evaluated protection provided by previous infection or hybrid immunity (previous infection plus vaccination). Individual patient data from US government-supported harmonized vaccine trials provide an unprecedented sample population to address this issue. We characterized the protective efficacy of previous SARS-CoV-2 infection and hybrid immunity against COVID-19 early in the pandemic over three-to six-month follow-up and compared with vaccine-associated protection. Methods: In this post-hoc cross-protocol analysis of the Moderna, AstraZeneca, Janssen, and Novavax COVID-19 vaccine clinical trials, we allocated participants into four groups based on previous-infection status at enrolment and treatment: no previous infection/placebo; previous infection/placebo; no previous infection/vaccine; and previous infection/vaccine. The main outcome was RT-PCR-confirmed COVID-19 >7–15 days (per original protocols) after final study injection. We calculated crude and adjusted efficacy measures. Findings: Previous infection/placebo participants had a 92% decreased risk of future COVID-19 compared to no previous infection/placebo participants (overall hazard ratio [HR] ratio: 0.08; 95% CI: 0.05–0.13). Among single-dose Janssen participants, hybrid immunity conferred greater protection than vaccine alone (HR: 0.03; 95% CI: 0.01–0.10). Too few infections were observed to draw statistical inferences comparing hybrid immunity to vaccine alone for other trials. Vaccination, previous infection, and hybrid immunity all provided near-complete protection against severe disease. Interpretation: Previous infection, any hybrid immunity, and two-dose vaccination all provided substantial protection against symptomatic and severe COVID-19 through the early Delta period. Thus, as a surrogate for natural infection, vaccination remains the safest approach to protection. Funding: National Institutes of Health
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