Search

Female FMR1 premutation carriers (PMC) have been suggested to be at greater risk of ill health, in particular endocrine dysfunction, compared to the general population. We set out to review the literature relating to endocrine dysfunction, including premature ovarian insufficiency (POI), in female PMCs, and then to consider whether endocrine dysfunction in itself may be predictive of other illnesses in female PMCs. A systematic review and pilot data from a semi-structured health questionnaire were used. Medline, Embase, and PsycInfo were searched for papers concerning PMCs and endocrine dysfunction. For the pilot study, self-reported diagnoses in females were compared between PMCs with endocrine dysfunction (n = 18), PMCs without endocrine dysfunction (n = 14), and individuals without the premutation (n = 15). Twenty-nine papers were identified in the review; the majority concerned POI and reduced fertility, which are consistently found to be more common in PMCs than controls. There was some evidence that thyroid dysfunction may occur more frequently in subgroups of PMCs and that those with endocrine difficulties have poorer health than those without. In the pilot study, PMCs with endocrine problems reported higher levels of fibromyalgia (p = 0.03), tremor (p = 0.03), headache (p = 0.01) and obsessive-compulsive disorder (p = 0.009) than either comparison group. Further larger scale research is warranted to determine whether female PMCs are at risk of endocrine disorders other than those associated with reproduction and whether endocrine dysfunction identifies a high-risk group for the presence of other health conditions. [ABSTRACT FROM AUTHOR]

Background: Primary ciliary dyskinesia (PCD, MIM 244400) is an inherited ciliopathy disorder characterized by recurrent sinopulmonary infections, subfertility, and laterality defects. The true incidence of PCD in Saudi Arabia is not known, but it is likely underdiagnosed due to the high prevalence of consanguineous marriages. In this study, we aim to study the clinical and genetic characteristics of PCD patients in the southwestern region of Saudi Arabia to provide guidance to clinicians and researchers studying PCD. Methods: This was a cross-sectional study conducted between 2019 and 2023 in Abha Maternity and Children's Hospital. Twenty-eight patients with clinically diagnosed PCD were recruited. The diagnosis of PCD was confirmed via whole-exome sequencing. Results: A total of 28 patients from 20 families were identified and recruited for this study. The median age of patients was 7.5 years (IQR = 3, 13 years). The people of different sexes were evenly distributed, and 18 patients (64%) had neonatal respiratory distress (NRD). The median age of diagnosis was 5.5 years (IQR = 2, 11 years), while the age when the first symptoms appeared was 3 months old (IQR = 1, 6 months). The prevalence of a chronic wet cough, chronic rhinosinusitis, ear infections were 100% (n = 28), 78.6% (n = 22), and 67.9% (19), respectively. The most common gene in our study was DNAH5, which represented 17.9% (five out of twenty-eight) of the cases. Furthermore, the remaining pathogenic variants included: 14.3% with RSPH9 in four individuals (three families), 14.3% with DNAI2 in four individuals (two families), and 10.7% with LRRC56 in three individuals (one family). The most common findings on the chest CT scans were consolidation (seen in all patients), mucus plugging (seen in 95%), and bronchiectasis (seen in 77%). In the patients with bronchiectasis, the most commonly affected lobes were the right lower lobe (88%) and left lower lobe (76%). The patients with PCD and situs inversus were more likely to experience NRD than the patients with PCD and situs solitus. The median PICADAR score in the patients with PCD and situs inversus (median: 11.5; Q1: 10–Q3: 12.5) was significantly higher compared to those with PCD and situs solitus (median: 7.5; Q1: 5.8–Q3: 8) (U = 10.5; p < 0.001). Conclusion: This study provides preliminary data on the clinical and genetic characteristics of PCD patients in the southwestern region of Saudi Arabia. We found that DNAH5 and RSPH9 genes were the most common genes among the studied population. Furthermore, PCD should be considered for each child with early NRD and laterality defects, and further confirmatory tests are recommended. These findings also highlight the need for greater awareness of the disease in daily clinical practice to facilitate early diagnosis and avoid irreversible lung damage. [ABSTRACT FROM AUTHOR]

Simple Summary: Health-related quality of life (HRQOL) is associated with cancer prognosis as well as with age, sex, race, and lifestyle factors, including diet and physical activity. To investigate the hypothesis that HRQOL has genetic underpinnings in patients with cancer, we performed a genome-wide association study to evaluate genetic variants (single nucleotide polymorphisms, SNPs) associated with mental and physical QOL as measured by the PROMIS assessment tool in breast cancer survivors participating in a longitudinal cohort study, the Mayo Clinic Breast Disease Registry (MCBDR). Age and financial concerns were associated with worse physical and mental health, and previous receipt of chemotherapy was associated with worse mental health. SNPs in SCN10A, LMX1B, SGCD, PARP12, and SEMA5A were associated with physical and mental QOL, but none at the genome-wide significance thresholds of p < 5 × 10−8. Health-related quality of life (HRQOL) is an important prognostic patient-reported outcome in oncology. Because prior studies suggest that HRQOL is, in part, heritable, we performed a GWAS to elucidate genetic factors associated with HRQOL in breast cancer survivors. Physical and mental HRQOL were measured via paper surveys that included the PROMIS-10 physical and mental health domain scales in 1442 breast cancer survivors participating in the Mayo Clinic Breast Disease Registry (MCBDR). In multivariable regression analyses, age and financial concerns were significantly associated with global physical health (age: p = 1.6 × 10−23; financial concerns: p = 4.8 × 10−40) and mental health (age: p = 3.5 × 10−7; financial concerns: p = 2.0 × 10−69). Chemotherapy was associated with worse global mental health (p = 0.01). In the GWAS, none of the SNPs reached the genome-wide association significance threshold of 5 × 10−8 for associations with either global physical or global mental health, however, a cluster of SNPs in SCN10A, particularly rs112718371, appeared to be linked to worse global physical health (p = 5.21 × 10−8). Additionally, SNPs in LMX1B, SGCD, PARP12 and SEMA5A were also moderately associated with worse physical and mental health (p < 10−6). These biologically plausible candidate SNPs warrant further study as possible predictors of HRQOL. [ABSTRACT FROM AUTHOR]

Introduction: The relationship between maladaptive perfectionism and Internalizing (ID) and Externalizing Disorders (ED) in children needs to be better understood, along with the intergenerational transmission of these traits from parents to children. The present work aimed to share light on both these issues. Method: 39 children with ID, 19 with ED, and their parents were recruited*. The Multidimensional Perfectionism Scale, the Big Five Inventory, the Child and Adolescent Perfectionism Scale, and the Hierarchical Personality Inventory for Children were used. The association between parent personality and perfectionism traits and children's perfectionism dimensions was evaluated through hierarchical regression analysis. Results: ID and ED groups did not differ significantly concerning perfectionism. Fathers presented higher scores than mothers in Self-Oriented Perfectionism, Other-Oriented Perfectionism, and Socially-Prescribed Perfectionism. Parents of children with ID report higher levels of Obedience in their children, while parents of children with ED reported higher levels of Creativity and Perseverance. Significant associations were found between perfectionism in parents and their children, as well as between perfectionism and the personality of children. Conclusion: Results suggest a transdiagnostic nature of Perfectionism and support the transgenerational transmission of the personality traits investigated. [ABSTRACT FROM AUTHOR]

This study investigated people's knowledge of genetics, attitudes toward genetic testing, and views on consanguinity. This cross-sectional study utilized a validated questionnaire modified from published studies to collect data on people's knowledge of genetics and attitudes about genetic testing among 1008 respondents from various Saudi Arabian regions. Using SPSS software version 26, data were analyzed using a t-test, ANOVA, and multivariate analysis. p-values of <0.05 were considered statistically significant. About 59.9% of the participants had sufficient knowledge of genetics, and around 50% had a favorable attitude toward genetic testing. Knowledge of genetics is significantly correlated (p ≤ 0.001) with a positive attitude toward genetic testing. Gender, age, level of education, marital status, family income, and family history were significantly correlated with respondents' understanding of genetics. Gender, family income, residence, and family history were associated with attitudes toward genetic testing at a 0.05 level of significance. There is a need to strengthen peoples' knowledge of genetics and attitudes toward genetic testing through diverse educational programs and healthcare strategies. Impetus on how to disseminate genetic information on consanguinity and transmission of diseases should be prioritized in regions where consanguineous marriages are high. [ABSTRACT FROM AUTHOR]

Simple Summary: Sarcomas are a rare group of heterogenous tumors that can develop anywhere in the body. Currently, studies on health-related quality of life (HRQoL) focus on sarcomas of the arm and leg or have too small sample sizes to examine the heterogeneity between different sarcoma locations, leading to limited insight into HRQoL of survivors with specific sarcoma locations. The aim of this study was to assess differences in HRQoL and examine treatment-specific HRQoL issues per sarcoma location. We found, in a population of 1099 sarcoma survivors, different patterns of HRQoL according to primary sarcoma location and a high number of additional, unique treatment-specific HRQoL issues per location, which were not captured with the general HRQoL questionnaire used in cancer patients. This indicates that the currently used HRQoL measures are too generic to capture all sarcoma-related issues, emphasizing the necessity for a comprehensive sarcoma-specific HRQoL measurement strategy. Sarcoma patients experience physical and psychological symptoms, depending on age of onset, subtype, treatment, stage, and location of the sarcoma, which can adversely affect patients' health-related quality of life (HRQoL). This study aimed to unravel the heterogeneity of sarcoma survivors' HRQoL regarding primary sarcoma location. A cross-sectional study was conducted among Dutch sarcoma survivors (N = 1099) aged ≥18, diagnosed 2–10 years ago. Primary sarcoma locations were head and neck, chest, abdominal including retroperitoneal, pelvis including urogenital organs, axial skeleton, extremities (upper and lower), breast, skin and other locations. The European Organization for Research and Treatment of Cancer—Quality of Life Questionnaire (EORTC QLQ)-C30 was used to measure HRQoL accompanied by treatment-specific HRQoL questions. Sociodemographic and clinical characteristics were collected from the Netherlands Cancer Registry. Axial skeleton sarcomas had the lowest functioning levels and highest symptoms compared to other locations. Skin sarcomas had the highest functioning levels and lowest symptoms on most scales. Bone sarcomas scored worse on several HRQoL domains compared to soft tissue sarcomas. High prevalence of treatment-specific HRQoL issues were found per location. In conclusion, sarcomas can present everywhere, which is reflected by different HRQoL outcomes according to primary sarcoma location. The currently used HRQoL measure lacks treatment-specific questions and is too generic to capture all sarcoma-related issues, emphasizing the necessity for a comprehensive sarcoma-specific HRQoL measurement strategy. [ABSTRACT FROM AUTHOR]