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The Genetic Risk of a Couple Aiming to Conceive
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Joe Leigh Simpson, Svetlana Rechitsky, Anver Kuliev
Couples at risk of monogenic disorders were once recognized only after birth of an affected child or after such an event in other family members. In the 1950s, identification of affected children began in certain regions through newborn screening programs. At present, such legislation is mandated in every US state for 35 or more inherited conditions (23). At least 5,000 asymptomatic US newborns are identified annually through newborn screening programs, resulting in 1 in 300 newborns being treated with specialized diets. The five most common conditions are 1) hearing loss, a highly heterogeneous condition, 2) congenital hypothyroidism, likewise heterogeneous, 3) cystic fibrosis, only one gene but molecularly heterogeneous, 4) sickle-cell anemia, one gene in African-Americans and, usually due to a single pathogenic mutation in codon 6 of the β-globin gene, and 5) medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, heterogeneous as well. The latter three disorders are monogenic metabolic disorders, as are most of the 35 disorders being screened for. The notable exceptions to this are the spectrum of cardiac anomalies screened for by pulse oximetry (24).
Growth Mixture Modeling
Published in Douglas D. Gunzler, Adam T. Perzynski, Adam C. Carle, Structural Equation Modeling for Health and Medicine, 2021
Douglas D. Gunzler, Adam T. Perzynski, Adam C. Carle
For example, depression is a heterogeneous condition [16]. Depression symptoms may differ in severity and change over time [17–19]. In studies of elderly people, depression can be common and may contribute to adverse health outcomes and can interfere with treatment for other medical problems [20]. In this example, we used LCGA to investigate the potential for multiple distinct depressive symptom trajectories in the Health and Retirement Study (HRS). HRS is a nationally representative survey and the models presented here properly accounted for the HRS complex sampling design. Data characteristics in HRS are thoroughly described elsewhere [21].
Hypofibrinolysis and Hyperinsulinemia
Published in Pia Glas-Greenwalt, Fibrinolysis in Disease Molecular and Hemovascular Aspects of Fibrinolysis, 2019
Stephen C.L. Gough, Irene Juhan-Vague
Obesity is, however, a heterogeneous condition and careful analysis of the clinical studies available indicate that body fat distribution is more important than simple body weight with respect to the association with coronary artery disease. In 1956 Vague observed that women with cardiovascular complications or type 2 diabetes mellitus tended to have android rather than gynoid obesity.59 Since this early report it has become clear that central (upper body, male pattern, or android) obesity in which the waist to hip ratio is greater than 0.85 is strongly associated with cardiovascular disease and the insulin-resistant state, whereas peripheral (lower body, gynoid, or female pattern) obesity is not.60-64 This has been reflected in a univariate analysis of the Paris Prospective Study in which the iliac-to-thigh ratio and plasma insulin level (both fasting and postprandial) were significantly higher in middle-aged men who died of coronary artery disease as opposed to those who died from another cause.34
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective
Published in Disability and Rehabilitation, 2022
Romina Romaniello, Chiara Gagliardi, Patrizia Desalvo, Livio Provenzi, Roberta Battini, Enrico Bertini, Maria Teresa Bonati, Marilena Briguglio, Stefano D’Arrigo, Maria Teresa Dotti, Lucio Giordano, Claudio Macaluso, Isabella Moroni, Sara Nuovo, Margherita Santucci, Sabrina Signorini, Franco Stanzial, Enza Maria Valente, Renato Borgatti
We acknowledge some limitations in the present study. First, the sample size is relatively small, as it is inherent to studies reporting on rare syndromes. As such, these findings should be considered descriptive. Replication in larger, independent cohorts would help confirm the validity of our findings and further improve our capacity to identify strengths and challenges related to the daily adaptive functioning of adult individuals with JS. Due to the cohort size, we were not able to perform a systematic statistical analysis on the association among socio-demographic characteristics, clinical features and ICF-related items; moreover, it must be noted that JS is a highly heterogeneous condition, and the wide individual variability (related to genetic causes, additional comorbidities, age, etc.) further limits the possibility to analyze sub-groups of patients. Furthermore, this is a cross-sectional survey with no observational data and with no longitudinal appreciation of the developmental trajectories of functioning. As such, this study cannot document age-related improvements or reduction of cognitive, social, relational and adaptive functioning in adults with JS. Finally, the majority of respondents were not the patients themselves, but their parents. Despite this aspect can be problematic with respect to the validity of findings, our previous experience employing the ICF administered to parents suggested that parents are good informants about their offspring abilities, especially in relation to daily functioning and adaptation [18].
Neuropsychological performance across symptom dimensions of obsessive-compulsive disorder: a comment on the state and critical review of the literature
Published in Expert Review of Neurotherapeutics, 2020
Duncan H. Cameron, Karen Rowa, Margaret C. McKinnon, Neil A. Rector, Randi E. McCabe
It can be seen from the summary tables of this review that research on this topic has been published fairly consistently over the past two decades, but the rate of publications seems to be slowing and this might be due to the acceptance of the methodological challenges inherent in this endeavor. However, OCD remains a heterogeneous condition with much of the literature hindered by inconsistent results mirroring the heterogeneity of the disorder’s symptoms. As such, it is unlikely that the pursuit of defined dimensions or subtypes of OCD will cease, but instead will shift focus to other promising alternatives such as subtyping based on underlying symptom theme or incorporating neurobiological evidence to elucidate differences between symptom presentations. As has been the case with neurobiological studies, where imaging has required multi-site databases to form coherent findings, assessing item-level data from symptom checklists may also require large-scale collaboration between researchers, and this is a promising feasible avenue for future study of this topic.
Pharmacotherapy for knee osteoarthritis: current and emerging therapies
Published in Expert Opinion on Pharmacotherapy, 2020
Peihua Cao, Yamin Li, Yujin Tang, Changhai Ding, David J. Hunter
In the past few years, it is increasingly appreciated that OA is a heterogeneous condition with different phenotypes, due to various disease mechanisms, structural abnormalities, clinical features, and treatment response. However, there is still no consensus regarding specific OA subgroups. In addition, there is evidence of the discordance between radiographic severity and pain in OA [107], which implied that factors beyond joint pathology, such as pain sensitization, psychological factors, and high co-morbidities, may also contribute to joint pain [108]. Thus, it is difficult to find a very effective therapy that may be generalizable for all patients. Therefore, future study should aim to classify OA patients into various phenotypes and develop a tailored therapy according to specific factors involved in the pathogenesis of the disease and the clinical features of each patient.