family history
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2022 ◽  
Author(s):  
Alaa Ali ◽  
Batool Yassin ◽  
Ali Almothaffar

Background: Studies demonstrated that there are several germline mutations that lead to a familial predisposition for acute myeloid leukemia and Myelodysplastic syndrome. According to the American Society of Clinical Oncology, the minimum cancer family history was defined as including first- and second-degree family history, type of primary cancer, and age at diagnosis. The current study aimed to estimate the frequency of positive family history for hematologic and solid malignancies in patients with Myeloid Neoplasms / Aplastic anemia. Patients and Methods: A cross-section study was carried out at the Center of Blood Diseases, Medical City Campus during the period from March-December 2020. A purposeful sample of all adult patients with Myeloid Neoplasms [Acute Myeloid Leukemia, Myelodysplastic Syndrome, Chronic Myeloid Leukemia, and Aplastic Anemia] was included in the study. A data collection form was prepared, based on the Hereditary Hematopoietic Malignancies Screening form adopted by the University of Chicago, and modified by the researchers; The data were collected by direct interview with the patients. Patients with hematologic malignancy and one or more first-degree relatives, or ≥2 second-degree relatives, with hematologic malignancies and individuals with Myelodysplastic Syndrome or Acute Myeloid Leukemia and two first or second-degree relatives with a diagnosis of solid tumor malignancy, were considered potential carriers of such genetic predisposition. Results: A total of 153 patients were included; males were nearly equal to females with a male to female ratio of nearly 1:1. Acute Myeloid Leukemia was found in 57.5%, Aplastic Anemia was found in 19%, Chronic Myeloid Leukemia in 17% and only four patients (6.5%) were known cases of Myelodysplastic Syndrome. Nine patients (5.9%) reported a family history of hematological malignancies, 29 (19.0%) reported a family history of solid malignancies and only one patient reported a family history of both hematological and solid malignancies. Regarding the official medical reports of the patients, no patient had been interviewed properly about this crucial point. Conclusion: Positive family history for hematological and solid malignancies in Iraqi patients with myeloid neoplasms is prevalent. Our current approach to this critical issue in Iraq needs to be re-considered.


2022 ◽  
Vol 28 (1) ◽  
Author(s):  
Linda P. Bolin ◽  
Amelia D. Saul ◽  
Lauren L. Bethune Scroggs ◽  
Carolyn Horne

Abstract Background Cardiovascular disease is one of the leading causes of death globally with hypertension being a primary cause of premature death from this disease process. Individuals with a family history of cardiovascular disease and hypertension are at a greater risk for developing the same sequela. Autonomic cardiac control is important in the level of cardiac function. One intervention that is effective in improving cardiovascular function is heart rate variability biofeedback training. The purpose of our study was to determine the effectiveness of heart rate biofeedback training on HRV and blood pressure in individuals with a family history of cardiovascular disease. Methods Thirty-four participants (76.5% female, 22.7 ± 4.3 years) completed a baseline assessment and training using an established short-term HRV protocol followed by two weeks of at-home paced breathing employing a smartphone application. The participants were then reassessed in a biofeedback clinic. Results The participants physiological measures showed a significant increase in means between pre and post intervention of SDNN (t (32) = 2.177, p =.037) and TP, (t (32) = 2.327 p = .026). Correlation noted a medium effect on diastolic blood pressure and high frequency heart rate variability, F, r = .41, n =33, p < .05. A multiple regression with all predictor variables in the model found no significance with diastolic and systolic blood pressure. Conclusions The findings from this pilot study demonstrated that a two-week paced breathing intervention may assist in reducing heart rate and diastolic blood pressure while improving heart rate variability.


2022 ◽  
Vol 14 (1) ◽  
Author(s):  
Jessica Klusek ◽  
Amanda Fairchild ◽  
Carly Moser ◽  
Marsha R. Mailick ◽  
Angela John Thurman ◽  
...  

Abstract Background Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early decline in syntactic complexity is observed and predicts the later onset of neurodegenerative disease. To shed light on the earliest signs of degeneration, the present study characterized longitudinal changes in the syntactic complexity of women with the FMR1 premutation across midlife, and associations with family history of fragile X-associated tremor/ataxia syndrome (FXTAS) and CGG repeat length. Methods Forty-five women with the FMR1 premutation aged 35–64 years at study entry participated in 1–5 longitudinal assessments spaced approximately a year apart (130 observations total). All participants were mothers of children with confirmed fragile X syndrome. Language samples were analyzed for syntactic complexity and participants provided information on family history of FXTAS. CGG repeat length was determined via molecular genetic testing. Results Hierarchical linear models indicated that women who reported a family history of FXTAS exhibited faster age-related decline in syntactic complexity than those without a family history, with that difference emerging as the women reached their mid-50 s. CGG repeat length was not a significant predictor of age-related change. Conclusions Results suggest that women with the FMR1 premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the FMR1 premutation.


2022 ◽  
Vol 11 ◽  
pp. 7
Author(s):  
Ian Munro Rogers

The early observations of those who first described babies with pyloric stenosis (PS) are used as a backdrop for the development of the Inherited Primary Hyperacidity theory of cause. Those early truths, uncomplicated by modern technology, have acted as a springboard for pathogenesis. Hyperacidity, male predominance, family history, self-cure, enhanced appetite, and time-sensitive presentation were all well known to the early pioneers. Any system of pathogenesis must explain all these clinical features. The Inherited Primary Hyperacidity theory does this and is a credible explanation for all the clinical features established by these early pioneers. The evidence which supports a delay in maturation of the negative feedback between gastrin and gastric acidity is presented. Such a phenomenon further supports the Primary Hyperacidity theory.


2022 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Emma R. Barrowcliffe ◽  
Nichola Tyler ◽  
Theresa A. Gannon

Purpose This study aims to assess the prevalence of firesetting in a sample of young UK adults aged 18 to 23 years and to compare their characteristics with non-firesetting individuals. Design/methodology/approach Two-hundred and forty male (n = 119, 49.6%) and female (n = 121, 50.4%) participants were recruited through Prolific Academic. Comparisons were made between self-reported firesetting and non-firesetting participants on a range of demographic, fire-related and personality measures. Factors predictive of firesetting status were examined using hierarchical logistic regression. Findings Twenty-five percent of participants (n = 60) reported igniting a deliberate fire. Logistic regression was used to examine the ability of parental supervision and behavioural issues (e.g., witnessing domestic violence, experimenting with fire before age 10 and family history of firesetting), antisocial behaviours (e.g., having criminal friends, impulsivity, teenage access to fire paraphernalia, skipping class more than once per week, taken any illegal drugs and participation in criminal behaviour) and fire-related interests, attitudes and propensities in predicting firesetting status. Factors found to distinguish firesetting and non-firesetting participants included the following: experimented with fire before 10 years of age, family history of firesetting, impulsivity, teenage access to fire paraphernalia, participation in criminal behaviour and the Fire Setting Scale. Practical implications The results provide key information about potential risk factors relating to un-apprehended firesetting in the general population. Originality/value This research adds to the small body of literature examining firesetting in the general population. It refines previously used methodologies, presents the first research study to examine the prevalence of firesetting behaviour in emerging adults and enhances our understanding of un-apprehended firesetting.


2022 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Jiachen Zhou ◽  
Kexin Sun ◽  
Shaoming Wang ◽  
Ru Chen ◽  
Minjuan Li ◽  
...  

2022 ◽  
pp. canprevres.0490.2021
Author(s):  
Evan Yi-Wen Yu ◽  
Mariana C Stern ◽  
Xuejuan Jiang ◽  
Li Tang ◽  
Piet A van den Brandt ◽  
...  

Autism ◽  
2022 ◽  
pp. 136236132110689
Author(s):  
Nisha Narvekar ◽  
Virginia Carter Leno ◽  
Greg Pasco ◽  
Mark H Johnson ◽  
Emily JH Jones ◽  
...  

Autism is diagnosed based on social and communication difficulties, restricted and repetitive behaviours and sensory anomalies. Existing evidence indicates that anxiety and atypical sensory features are associated with restricted and repetitive behaviours, but cannot clarify the order of emergence of these traits. This study uses data from a prospective longitudinal study of infants with and without a family history of autism ( N = 247; Elevated Likelihood N = 170 and Typical Likelihood N = 77). Longitudinal cross-lag models tested bidirectional pathways between parent-rated infant fear/shyness and perceptual sensitivity at 8, 14 and 24 months, and associations between these domains and parent-rated restricted and repetitive behaviours and social communication scores at 36 months. In addition to within-domain continuity, higher levels of fear/shyness at 14 months were associated with higher levels of perceptual sensitivity at 24 months. Higher levels of both fear/shyness and perceptual sensitivity at 24 months were associated with greater restricted and repetitive behaviours and social communication scores at 36 months. Results demonstrate the directionality of developmental pathways between fear/shyness and perceptual sensitivity in infancy and toddlerhood, but question theories that argue that these domains specifically underlie restricted and repetitive behaviours rather than autism. Identifying how early emerging anxiety and sensory behaviours relate to later autism is important for understanding pathways and developing targeted support for autistic children. Lay abstract Restricted interests and repetitive behaviours are central to the diagnosis of autism and can have profound effects on daily activities and quality of life. These challenges are also linked to other co-occurring conditions such as anxiety and sensory sensitivities. Here, we looked at whether early emerging signs of anxiety and sensory problems appear before symptoms of autism by studying infants with a family history of autism, as these infants are more likely to develop autism themselves. Studying infant siblings provides an opportunity for researchers to focus on early developmental markers of autism as these infants can be followed from birth. This study found that early infant signs of anxiety (e.g. fear/shyness) predicted later perceptual sensitivity, and those infants who scored higher on fear/shyness and sensitivity were more likely to experience more persistent repetitive behaviours, but also social and communication difficulties in toddlerhood. Early signs of anxiety and perceptual sensitivity may thus relate to both later social difficulties and repetitive behaviours. These findings support the importance of further research exploring the causal links between these domains in relation to autism, resulting in increased understanding of children who go onto develop autism in the future and guiding early interventions and supports.


Author(s):  
Carolyn Horton ◽  
Holly LaDuca ◽  
Ashley Deckman ◽  
Kate Durda ◽  
Michelle Jackson ◽  
...  

Abstract Background Practice guidelines to identify individuals with hereditary pheochromocytomas and paragangliomas (PPGLs) advocate for sequential gene testing strategy guided by specific clinical features and predate the routine use of multigene panel testing (MGPT). Objective To describe results of MGPT for hereditary PPGL in a clinically and ancestrally diverse cohort. Setting Commercial laboratory based in the United States. Methods Clinical data and test results were retrospectively reviewed in 1727 individuals who had targeted MGPT due to suspicion of hereditary PPGL from August 2013 through December 2019. Results Overall, 27.5% of individuals had a pathogenic or likely pathogenic variant (PV), 9.0% had a variant of uncertain significance, and 63.1% had a negative result. Most PVs were identified in SDHB (40.4%), followed by SDHD (21.1%), SDHA (10.1%), VHL (7.8%), SDHC (6.7%), RET (3.7%), and MAX (3.6%). PVs in FH, MEN1, NF1, SDHAF2, and TMEM127 collectively accounted for 6.5% of PVs. Clinical predictors of a PV included extra-adrenal location, early age of onset, multiple tumors, and positive family history of PPGL. Individuals with extra-adrenal PGL and a positive family history were the most likely to have a PV (85.9%). Restricting genetic testing to SDHB/C/D misses a third (32.8%) of individuals with PVs. Conclusion Our data demonstrate a high diagnostic yield in individuals with and without established risk factors, a low inconclusive result rate, and a substantial contribution to diagnostic yield from rare genes. These findings support universal testing of all individuals with PPGL and the use of concurrent MGPT as the ideal platform.


2022 ◽  
pp. 00462-2021
Author(s):  
Heidi Andersén ◽  
Pinja Ilmarinen ◽  
Jasmin Honkamäki ◽  
Leena E Tuomisto ◽  
Hanna Hisinger-Mölkänen ◽  
...  

BackgroundNonsteroidal anti-inflammatory drugs (NSAIDs) may exacerbate respiratory symptoms. A recent EAACI position paper recommended the use of an acronym, N-ERD (NSAID-exacerbated respiratory disease), for this hypersensitivity associated with asthma or chronic rhinosinusitis (CRS) with or without nasal polyposis. Our aim was to estimate the prevalence of N-ERD and identify factors associated with N-ERD.MethodsIn 2016, a cross-sectional questionnaire survey of a random adult population of 16 000 subjects aged 20–69 years was performed in Helsinki and Western Finland. The response rate was 51.5%.ResultsThe prevalence was 1.4% for N-ERD, and 0.7% for AERD. The prevalence of N-ERD was 6.9% among subjects with asthma and 2.7% among subjects with rhinitis.The risk factors for N-ERD were older age, family history of asthma or allergic rhinitis, long-term smoking and exposure to environmental pollutants. Asthmatic subjects with N-ERD had a higher risk of respiratory symptoms, severe hypersensitivity reactions and hospitalisations than asthmatic subjects without N-ERD. The sub-phenotype of N-ERD with asthma was most symptomatic. Subjects with rhinitis associated with N-ERD, which would not be included in AERD, had the least symptoms.ConclusionWe conclude that the prevalence of N-ERD was 1.4% in a representative Finnish adult population sample. Older age, family history of asthma or allergic rhinitis, cumulative exposure to tobacco smoke, secondhand smoke, and occupational exposures increased odds of N-ERD. N-ERD was associated with significant morbidity.


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