Hardiness as a Resilience Factor for Adaptation in Families of Children With 22q11.2 Deletion Syndrome: A Mixed Methods Study of Parents' Perspectives.

22q11.2 deletion syndrome is a rare multisystem genetic disorder with over 200 associated characteristics, occurring in various combinations and severity. Extensive biomedical research has been undertaken on 22q11.2 deletion syndrome, however, there is a dearth of research on families' experiences of managing a family member with this condition. The complex and at times serious phenotypical presentation of the syndrome can make the management of the condition difficult for families. The aim of this mixed method explanatory sequential study was to investigate family hardiness as a resilience factor for adaptation in families of children with 22q11.2 deletion syndrome from parents' perspectives. We found that adaptation scores increased by 0.57 points (95% CI: 0.19-0.94) for every one-point increase in family hardiness score. Qualitative results indicated that acceptance of the child's diagnosis and support positively influenced hardiness whereas fears about the future and their experiences of loss negatively influenced hardiness.

Psychometric Validation of Hindi Version of Sino-Nasal Outcome Test-22.

The purpose of this study was assessment of reliability, validity & responsiveness of Hindi version of SNOT 22. 110 cases and controls were recruited in this prospective study. The internal consistency, test-retest reproducibility, construct & criterion validity, and responsiveness of Hindi version of SNOT 22 were assessed. Hindi SNOT 22 showed a good internal consistency (Cronbach's alpha (α) in cases = 0.823 and in controls = 0.868). Physical and Quality of life subscales also showed good internal consistency (α of 0.711 and 0.87 respectively). Test-retest reproducibility using Spearman's rank correlation coefficient (rs) showed very high correlation (rs = 0.939). There was significant difference in scores (p < 0.00001) between cases and controls (46.99 ± 13.97 and 07.58 ± 6.772 respectively). The mean pre and post-operative scores were 53.43 ± 12.241 and 20.50 ± 06.679 respectively with a significant difference (p = 0.000002) and a large effect size (Hedge's g = 2.34). Hindi SNOT 22 showed a moderate correlation with visual analogue scale (rs = 0.663) and a low correlation with Lund Mackay staging (rs = 0.388). The Hindi version of SNOT 22 is a valid, reliable and a responsive patient reported outcome measure instrument for assessment of chronic rhinosinusitis in adults. It retains most of the important characteristics of the source version (SNOT 22). This can be used as a clinical as well as research tool to aid in diagnosis, to assess quality of life as well as monitoring treatment strategies in the field of CRS in Hindi speaking patients. Supplementary Information: The online version contains supplementary material available at 10.1007/s12070-021-02808-1.

Maternal background alters the penetrance of growth phenotypes and sex-specific placental adaptation of offspring sired by alcohol-exposed males.

Epigenetic mechanisms of paternal inheritance are an emerging area of interest in our efforts to understand fetal alcohol spectrum disorders. In rodent models examining maternal alcohol exposures, different maternal genetic backgrounds protect or sensitize offspring to alcohol-induced teratogenesis. However, whether maternal background can mitigate sperm-inherited alterations in developmental programming and modify the penetrance of growth defects induced by preconception paternal alcohol exposures remains unaddressed. In our previous studies examining pure C57Bl/6J crosses, the offspring of alcohol-exposed sires exhibited fetal growth restriction, enlarged placentas, and decreased placental efficiency. Here, we find that in contrast to our previous studies, the F1 offspring of alcohol-exposed C57Bl/6J sires and CD-1 dams do not exhibit fetal growth restriction, with male fetuses developing smaller placentas and increased placental efficiencies. However, in these hybrid offspring, preconception paternal alcohol exposure induces sex-specific changes in placental morphology. Specifically, the female offspring of alcohol-exposed sires displayed structural changes in the junctional and labyrinth zones, along with increased placental glycogen content. These changes in placental organization are accompanied by female-specific alterations in the expression of imprinted genes Cdkn1c and H19. Although male placentae do not display overt changes in placental histology, using RNA-sequencing, we identified programmed alterations in genes regulating oxidative phosphorylation, mitochondrial function, and Sirtuin signaling. Collectively, our data reveal that preconception paternal alcohol exposure transmits a stressor to developing offspring, that males and females exhibit distinct patterns of placental adaptation, and that maternal genetic background can modulate the effects of paternal alcohol exposure.

Adaptation of the Scoliosis Research Society-22 Questionnaire for the Hebrew Language: Transcultural Adaptation and Reliability Analysis.

STUDY DESIGN: A cross-cultural adaptation and reliability study. OBJECTIVE: To perform cross-cultural adaptation and evaluate the reliability and validity of the Hebrew version of the Scoliosis Research Society-22 (SRS-22) questionnaire. SUMMARY OF BACKGROUND DATA: The SRS-22 validated in different languages is used in assessing health-related quality of life of patients with scoliosis. METHODS: The English SRS-22 was translated/retranslated and a cross-cultural adaptation was performed. The Hebrew SRS-22 was administered twice, a week apart, to 45 patients with idiopathic scoliosis and 15 with Scheuermann kyphosis. The Cobb angle of the thoracic curvature, the numeric rating scale (NRS) of pain and of the self-perceived cosmetic defect, were evaluated. Internal consistency was determined by the Cronbach α coefficient. Intraclass correlation was used for test-retest reliability. Concurrent validity of the SRS-22 domains with the Cobb angle, NRS pain, and NRS cosmetic defect was evaluated by Pearson correlation. RESULTS: The mean age of the subjects was 17.3 ± 7.42 years. The Cobb angle was 39.43 ± 17.52, NRS pain during the last 24 hours was 4.35 ± 3.42, and the NRS cosmetic defect was 3.80 ± 3.57. The mean overall Cronbach α of the Hebrew SRS-22 was 0.75. Two domains, function/activity (α = 0.63) and satisfaction (α = 0.66), showed a questionable internal consistency, self-image (α = 0.72) showed acceptable, pain (α = 0.80) good, and mental health (α = 0.92) excellent internal consistency. The intraclass correlation for five domains ranged from 0.71 to 0.95, demonstrating good test-retest reproducibility. The concurrent validity of the SRS-22 in scoliosis subjects with the Cobb angle was moderate (r = 0.37), and with NRS pain (r = 0.62) and NRS cosmetic defect (r = 0.54) good. In kyphosis subjects, the only significant high correlation was found between the self-image domain of SRS-22 and the NRS cosmetic defect (r = 0.84). CONCLUSION: The Hebrew version of the SRS-22 can be used to assess the outcome of treatment among Hebrew-speaking patients with idiopathic scoliosis and Scheuermann disease. LEVEL OF EVIDENCE: Level 2.

Reliability and validity of the adapted Dutch version of the revised Scoliosis Research Society 22-item questionnaire.

BACKGROUND CONTEXT: As in other fields of medicine, there is an increasing interest among orthopedic surgeons to measure health-related quality of life in adolescent idiopathic scoliosis patients and to evaluate the burden of disease and the effectiveness of different treatment strategies. The development of the revised Scoliosis Research Society 22-item patient questionnaire (SRS-22r) enabled a comprehensive evaluation of health-related quality of life of these patients. Over the years, the SRS-22r gained wide acceptance and has been used in several different countries, languages, and cultures. The SRS-22r has not been translated into Dutch to date. PURPOSE: To translate the SRS-22r into Dutch and adapt it cross-culturally as outlined by international guidelines and to test its psychometric properties to measure health-related quality of life of adolescent idiopathic scoliosis patients in the Netherlands. STUDY DESIGN/SETTING: A cross-sectional, multicenter validation study. PATIENT SAMPLE: A total of 135 adolescent idiopathic scoliosis patients (mean age 15.1 years old) of three major scoliosis centers in the Netherlands were enrolled in this study. Ninety-two (68%) subjects completed the Dutch SRS-22r, Child Health Questionnaire (CHQ)-CF87 (golden standard for adolescents), and Short Form (SF)-36 (golden standard for adults). Two weeks later, 73 (79%) of 92 respondents returned a second SRS-22r. Demographics, curve type, Risser stage, and treatment status were documented. OUTCOME MEASURES: Floor and ceiling effects, internal consistency, reproducibility, concurrent validity, and discriminative ability of the Dutch version of the SRS-22r questionnaire. METHODS: For content analysis, SRS-22r domain scores (function, pain, self-image, mental health, and satisfaction with management) were explored and floor and ceiling effects were determined. Cronbach's α was calculated for internal consistency of each domain of the questionnaires and reproducibility was assessed by test-retest reliability analysis. Using Pearson's correlation coefficient, comparison of the domains of the Dutch SRS-22r with the domains of the SF-36 and Child Health Questionnaire-CF87 assessed the concurrent validity. Differences in SRS-22r domain scores between untreated patients with different curve severity determined the discriminative ability of the questionnaire. RESULTS: The SRS-22r domains as well as the SF-36 and CHQ-CF87 domains demonstrated no floor effects, but the function, pain, and satisfaction with management domains had ceiling effects, indicating the proportion of subjects with the maximum score between 19.6% and 33.0%. Internal consistency was very satisfactory for all SRS-22r domains: Cronbach's α was between 0.718 and 0.852. By omitting question 15, the internal consistency of the function domain increased from 0.746 to 0.827. Test-retest reliability was ≥0.799 for all SRS-22r domains. The function, pain, mental health, and self-image domains correlated under the 0.001 significance level with the corresponding CHQ-CF87 and SF-36 domains. The satisfaction with management domain did not correlate with the other questionnaires. The SRS-22r had the ability to detect differences between groups with different curve severity; patients with a severe scoliotic curvature had significantly lower pain and self-image domain scores than patients with relatively mild scoliosis. CONCLUSIONS: The Dutch SRS-22r had the properties needed for the measurement of patient perceived health-related quality of life of adolescent idiopathic scoliosis patients in the Netherlands. The Dutch SRS-22r could be used for the longitudinal follow-up of adolescent idiopathic scoliosis patients from adolescence to adulthood and for establishing the effects of conservative or invasive surgical treatment.

Resistance exercise induces region-specific adaptations in anterior pituitary gland structure and function in rats.

The anterior pituitary gland (AP) increases growth hormone (GH) secretion in response to resistance exercise (RE), but the nature of AP adaptations to RE is unknown. To that end, we examined the effects of RE on regional AP somatotroph GH release, structure, and relative quantity. Thirty-six Sprague-Dawley rats were assigned to one of four groups: 1) no training or acute exercise (NT-NEX); 2) no training with acute exercise (NT-EX); 3) resistance training without acute exercise (RT-NEX); 4) resistance training with acute exercise (RT-EX). RE incorporated 10, 1 m-weighted ladder climbs at an 85° angle. RT groups trained 3 days/wk for 7 wk, progressively. After death, trunk blood was collected, and each AP was divided into quadrants (ventral-dorsal and left-right). We measured: 1) trunk plasma GH; 2) somatotroph GH release; 3) somatotroph size; 4) somatotroph secretory content; and 5) percent of AP cells identified as somatotrophs. Trunk GH differed by group (NT-NEX, 8.9 ± 2.4 µg/l; RT-NEX, 9.2 ± 3.5 µg/l; NT-EX, 15.6 ± 3.4 µg/l; RT-EX, 23.4 ± 4.6 µg/l). RT-EX demonstrated greater somatotroph GH release than all other groups, predominantly in ventral regions (P < 0.05-0.10). Ventral somatotrophs were larger in NT-EX and RT-NEX compared with RT-EX (P < 0.05-0.10). RT-NEX exhibited significantly greater secretory granule content than all other groups but in the ventral-right region only (P < 0.05-0.10). Our findings indicate reproducible patterns of spatially distinct, functionally different somatotroph subpopulations in the rat pituitary gland. RE training appears to induce dynamic adaptations in somatotroph structure and function.

FK506-Binding protein 22 from a psychrophilic bacterium, a cold shock-inducible peptidyl prolyl isomerase with the ability to assist in protein folding.

Adaptation of microorganisms to low temperatures remains to be fully elucidated. It has been previously reported that peptidyl prolyl cis-trans isomerases (PPIases) are involved in cold adaptation of various microorganisms whether they are hyperthermophiles, mesophiles or phsycrophiles. The rate of cis-trans isomerization at low temperatures is much slower than that at higher temperatures and may cause problems in protein folding. However, the mechanisms by which PPIases are involved in cold adaptation remain unclear. Here we used FK506-binding protein 22, a cold shock protein from the psychrophilic bacterium Shewanella sp. SIB1 (SIB1 FKBP22) as a model protein to decipher the involvement of PPIases in cold adaptation. SIB1 FKBP22 is homodimer that assumes a V-shaped structure based on a tertiary model. Each monomer consists of an N-domain responsible for dimerization and a C-catalytic domain. SIB1 FKBP22 is a typical cold-adapted enzyme as indicated by the increase of catalytic efficiency at low temperatures, the downward shift in optimal temperature of activity and the reduction in the conformational stability. SIB1 FKBP22 is considered as foldase and chaperone based on its ability to catalyze refolding of a cis-proline containing protein and bind to a folding intermediate protein, respectively. The foldase and chaperone activites of SIB1 FKBP22 are thought to be important for cold adaptation of Shewanella sp. SIB1. These activities are also employed by other PPIases for being involved in cold adaptation of various microorganisms. Despite other biological roles of PPIases, we proposed that foldase and chaperone activities of PPIases are the main requirement for overcoming the cold-stress problem in microorganisms due to folding of proteins.

Reliability and validity of an adapted Thai version of the Scoliosis Research Society-22 questionnaire.

PURPOSE: The Scoliosis Research Society-22 (SRS-22) questionnaire is a widely accepted questionnaire used to assess the health-related quality of life for scoliosis patients in the United States. However, its adaptation in other languages is necessary for its multinational use. A cross-sectional study was performed to evaluate the validity and reliability of an adapted Thai version of the SRS-22 questionnaire. METHODS: An expert committee performed translation/retranslation of the English version of the SRS-22 questionnaire, as well as a cross-cultural adaptation process. Later, SRS-22 questionnaires and previously validated Short Form-36 version 2 (SF-36v2) outcome instruments were given to patients treated for idiopathic scoliosis with a minimum of 1 year of follow-up. Internal consistency and reproducibility were determined by Cronbach's alpha statistics and the intraclass correlation coefficient, respectively. Concurrent validity was measured by comparing SRS-22 results with a previously validated questionnaire (SF-36v2). Measurement was made using the Pearson correlation coefficient (r). RESULTS: The study showed satisfactory internal consistency with Cronbach's alpha values for all of the corresponding domains (pain, 0.72; self-image/appearance, 0.87; mental health, 0.83; satisfaction with management, 0.63; and function/activity, 0.83). The test-retest reproducibility was also excellent or good for all domains (pain, 0.72; self-image/appearance, 0.85; mental health, 0.82; satisfaction, 0.62; and function/activity, 0.81). For concurrent validity, excellent correlation was found in two domains, good in six domains, moderate in five domains, and poor in five domains of the 18 relevant domains. CONCLUSIONS: The Thai version of the SRS-22 outcome instrument has satisfactory internal consistency, excellent reproducibility, and acceptable validity.