Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies.

Achondroplasia (ACH), the most common form of skeletal dysplasia, is characterized by severe disproportionate short stature, rhizomelia, exaggerated lumbar lordosis, brachydactyly, macrocephaly with frontal bossing and midface hypoplasia. Ligamentous laxity has been reported as a striking feature of ACH, but its prevalence and characteristics have not been systematically evaluated yet. There is growing evidence that ligamentous laxity can be associated with chronic musculoskeletal problems and may affect motor development leading to abnormal developmental trajectories. This study aimed to assess the prevalence of ligamentous laxity in children with ACH through standardized tools, the Beighton scale and its modified version for preschool-age children. A total of 33 children (mean age 6.4 ± 3.2 years; age range 1-12.5 years) diagnosed with ACH by the demonstration of a pathogenic variant in the FGFR3 gene and 33 age- and sex-matched healthy controls were included in the study. Both ligamentous laxity assessment and neurological examinations were performed; medical history was also collected from caregivers. Children with ACH showed a 2 times higher risk of ligamentous laxity than the group without skeletal dysplasia (OR = 2.2; 95% CI = 1.0 to 4.7), with 55% of children meeting the diagnostic criteria for hypermobility. No significant difference in ligamentous laxity was observed between males and females. Joint involvement analysis revealed characteristic patterns, with knee hypermobility observed in 67% of patients, while rare was elbow hypermobility. Longitudinal assessments indicated a decreasing trend in ligamentous laxity scores over time, suggesting a potential decrease in hypermobility issues during adulthood. The findings of this study provide valuable insights into the prevalence and characteristics of ligamentous laxity in ACH. Implementation of standardized ligamentous laxity assessments might guide patients' follow-up and facilitate early interventions, helping to prevent pain and improve outcomes and quality of life for such patients. Further prospective studies are needed to explore the natural history of ligamentous laxity in ACH and investigate the potential impact of emerging pharmacological treatments upon hypermobility.

Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy.

Background and Objectives: The aim of this study was to evaluate longitudinal changes using both upper limb muscle Magnetic Resonance Imaging (MRI) at shoulder, arm and forearm levels and Performance of upper limb (PUL) in ambulant and non-ambulant Duchenne Muscular Dystrophy (DMD) patients. We also wished to define whether baseline muscle MRI could help to predict functional changes after one year. Materials and Methods: Twenty-seven patients had both baseline and 12month muscle MRI and PUL assessments one year later. Results: Ten were ambulant (age range 5-16 years), and 17 non ambulant (age range 10-30 years). Increased abnormalities equal or more than 1.5 point on muscle MRI at follow up were found on all domains: at shoulder level 12/27 patients (44%), at arm level 4/27 (15%) and at forearm level 6/27 (22%). Lower follow up PUL score were found in 8/27 patients (30%) at shoulder level, in 9/27 patients (33%) at mid-level whereas no functional changes were found at distal level. There was no constant association between baseline MRI scores and follow up PUL scores at arm and forearm levels but at shoulder level patients with moderate impairment on the baseline MRI scores between 16 and 34 had the highest risk of decreased function on PUL over a year. Conclusions: Our results confirmed that the integrated use of functional scales and imaging can help to monitor functional and MRI changes over time.

Measuring coping in pregnant minority women.

Coping strategies may help explain why some minority women experience more stress and poorer birth outcomes, so a psychometrically sound instrument to assess coping is needed. We examined the psychometric properties, readability, and correlates of coping in pregnant Black (n = 186) and Hispanic (n = 220) women using the Brief COPE. Exploratory and confirmatory factor analysis tested psychometric properties. The Flesch-Kincaid Reading Level test assessed readability. Linear regression models tested correlates of coping. Findings suggested two factors for the questionnaire: active and disengaged coping, as well as adequate reliability, validity, and readability level. For disengaged coping, Cronbach's α was .78 (English) and .70 (Spanish), and for active coping .86 (English) and .92 (Spanish). A two group confirmatory factor analysis revealed both minority groups had equivalent factor loadings. The reading level was at the sixth grade. Age, education, and gravidity were all found to be significant correlates with active coping.

Acculturation and biobehavioral profiles in pregnant women of Hispanic origin: generational differences.

In Hispanics, acculturation may lead to negative health outcomes. This study used a cross-sectional design to investigate the psychosocial and biological risks in acculturating pregnant women of Hispanic origin (n = 470). Psychosocial risks-depressive symptoms, anxiety, and stress-were assessed by self-report, whereas biological measures included stress-related and reproductive hormones. Mental health deteriorated across generations, with worsening depression, anxiety, and stress with successive generations. Stress and reproductive hormone levels decreased across generations, whereas body mass index and number of sexual partners increased. These data provide potential biobehavioral explanations of the relationship between acculturation and declining health among Hispanic women in the United States.

Relationships among maternal nutrient intake and placental biomarkers during the 1st trimester in low-income women.

PURPOSE: Pre-eclampsia is a multi-system disorder caused by inadequate placentation in early pregnancy; however, little is known about the influence of nutrient intake on placental development during the crucial 1st trimester. The objective of this study was to examine the relationships between nutrient intake and the raw values and ratios of angiogenic [placental growth factor (PlGF)] and antiangiogenic [soluble fms-like tyrosine kinase-1 (sFlt-1) and soluble endoglin (sEng)] placental biomarkers in the 1st trimester. METHODS: A cross-sectional study of low-income, pregnant women (n = 118). Average nutrient intake was calculated from three 24-h dietary recalls. Biomarker values were adjusted for gestational age and nutrients were adjusted for energy. RESULTS: The angiogenic to antiangiogenic ratio [PlGF/(sFlt-1 × sEng)] was positively related to intake of vitamin D (r = 0.24), vitamin B(2) (r = 0.25), B(12) (r = 0.20), dietary folate equivalents (r = 0.19), iron (r = 0.19), and zinc (r = 0.19) and negatively related to transfats (r = -0.24). Principal component analysis revealed that a vitamin/mineral factor [t (112) = 2.58, p = 0.011] and transfats factor [t (112) = -2.03, p = 0.045] were significant predictors of the PlGF/(sFlt-1 × sEng) ratio. The vitamin and mineral factor was a significant predictor of sFlt-1 [t (122) = 2.29, p = 0.024]. CONCLUSIONS: Expression of placental biomarkers in the early weeks of pregnancy may be influenced by intake of nutrients. Understanding the influence of maternal nutrient intake and placental development in the 1st trimester may provide the opportunity to avert the development or blunt the severity of preeclampsia.

Predictors of dietary quality in low-income pregnant women: a path analysis.

BACKGROUND: Despite the potential importance of nutrition to pregnancy outcomes, little is known about the factors influencing dietary quality, especially during the first trimester. OBJECTIVE: The aim of this study was to examine the relationships of distress (an index of depression and stress), social support, and eating habits with dietary quality in low-income pregnant women. METHOD: A cross-sectional design and path analytic methods was used in a clinic-based sample of low-income women (n = 118) in their first trimester of pregnancy. Women completed questionnaires and received training on estimating food portion sizes. Three 24-hour dietary recalls were collected over 2 weeks. Overall dietary quality was assessed using the Dietary Quality Index-Pregnancy. RESULTS: The final path model fit well (comparative fit index [CFI] = .97, root mean square error of approximation [RMSEA] = .05) and revealed that distress had a direct effect on poor eating habits (ß = .36) and a direct (ß = -.23) and indirect effect on dietary quality (ß = -.30). Poor eating habits had a direct effect on dietary quality (ß = -.18). Social support had no effect on dietary quality. Age had significant direct effects on education (ß = .39) and nutritional knowledge (ß = .18) and an indirect effect on dietary quality (total effect, ß = .19). Maternal age, education, and nutritional knowledge did not have significant effects on psychosocial variables. DISCUSSION: Psychosocial distress and poor eating habits contributed to inadequate dietary quality. Assessing for depression, stress, poor eating habits, and overall dietary quality during the crucial first trimester may identify women needing more intensive dietary monitoring and intervention throughout pregnancy.

Maternal corticotropin-releasing hormone and the use of selective serotonin reuptake inhibitors independently predict the occurrence of preterm birth.

INTRODUCTION: Studies support the premise that chronic maternal stress may trigger a premature sequence of physiologic events ending in preterm birth (PTB). Furthermore, chronic stress is highly correlated with depression and anxiety, which also are associated with PTB. However, some studies report that medication status rather than depression and/or anxiety may reflect the risk for PTB. Although the purpose of this small, preliminary study was to evaluate the association between chronic maternal stress and PTB, this report focuses on the unexpected finding of the association between maternal use of selective serotonin reuptake inhibitors (SSRIs) and PTB. METHODS: A prospective cohort study of 100 pregnant women included measures of contributors to chronic maternal stress and corticotropin-releasing hormone (CRH). Demographic and behavioral data included smoking, substance use, and use of medications for depression and anxiety. RESULTS: Pregnant women who used SSRIs to treat depression and/or anxiety were nearly 12 times more likely to give birth before term when compared with women who did not use these medications. Women with CRH levels in the fourth quartile were 6 times more likely to give birth before term when compared with women whose CRH levels were in the lower 3 quartiles. No associations were found between SSRI use and CRH levels. DISCUSSION: Associations between PTB and maternal use of SSRIs are not understood. It is important not to alter current approaches to the treatment of depression and anxiety without thorough discussion with women regarding the potential benefits and harms of various treatment options.

Exploring relationships among psychosocial status, dietary quality, and measures of placental development during the first trimester in low-income women.

PURPOSE: To examine the relationships between maternal psychosocial factors and dietary quality and explore the relationships among dietary quality and selected biomarkers of nutrition and placental development. METHOD: A cross-sectional design in 18 low-income, pregnant women. RESULTS: Partner support was positively related to vegetable intake (r = .54) and negatively related to intake of iron (r = -.68) and grains (r = -.67). Emotional eating in response to anger was negatively related to intake of iron-(r /it> = -.53) and folate-rich (r = -.75) foods, and emotional eating in response to anxiety was negatively related to intake of folate-rich foods (r = -.51). Depressed women had an increased intake of calcium-rich foods (r = .60). Levels of vascular endothelial growth factor (VEGF) were negatively related to depression (r = -.56) and intake of foods high in calcium (r = -.53) and iron (r = -.34) but positively related to serum calcium levels (r = .60). VEGF was negatively relationship to soluble fms-like tyrosine kinase 1 (sFlt-1; r = -.56). Placental growth factor had a negative relationship with maternal serum levels of albumin (r = -.61) and calcium (r = -.65). CONCLUSIONS: Low-income pregnant women who eat to cope with anger and anxiety may have an inadequate intake of nutrients that contribute to positive pregnancy outcomes. Placental development in the early weeks of pregnancy may be influenced by maternal psychosocial and nutritional status. More research is needed to explore the relationship of dietary quality and placental development in the first trimester of pregnancy.

Maternal coping style and perceived adequacy of income predict CRH levels at 14-20 weeks of gestation.

OBJECTIVE: This exploratory study examines the role of psychosocial-behavioral variables as predictors of elevated corticotropin-releasing hormone (CRH) at 14-20 weeks of gestation. METHOD: One hundred and twenty women were enrolled into the study. Blood samples were collected at 14-20 weeks of pregnancy and assayed for CRH. Participants completed questionnaires that included the Perceived Stress Scale, the Center for Epidemiologic Studies (CES) Depression Scale, the Pregnancy-Specific Anxiety (PAS) Scale, the Norbeck Social Support Questionnaire, the Life Orientation Test, the Brief COPE scale, and questions regarding violence/abuse, and work, sleep, and nutritional patterns. RESULTS: Pregnant women with high CRH levels (15 pcg/ml and above) perceived their income to be inadequate, slept more hours at night, stood more hours during the day, and used the coping styles of disengagement or religion but not humor. Logistic regression identified three predictors for high CRH (accounting for 42.2% of the variance): perceived inadequacy of income and the use of ''religion'' and ''disengagement'' to cope with stress. CONCLUSIONS: These results are the first known to identify coping style and perceived income inadequacy as predictors of high CRH. Women with perceived inadequacy of income had almost three times the odds for high CRH. Women who used religion or disengagement to cope with stress had 14 times and 7 times the odds for high CRH levels, respectively. Higher CRH levels are associated with preterm birth (PTB). Thus, it may be important to include maternal coping style and perceptions of income inadequacy in future investigations of CRH levels and PTB.

Bioassay research methodology: measuring CRH in pregnancy.

BACKGROUND: There are documented associations between elevated maternal corticotropin-releasing hormone (CRH) levels and adverse pregnancy outcomes. However, reports of these findings often lack sufficient detail and rationale regarding the bioassay methodology. This shortcoming can be problematic for researchers who do not possess in-depth laboratory sciences knowledge but who want to include bioassays in their investigations or to evaluate published reports. The quality and reliability of CRH measurement results can be significantly affected by variables encountered during sample collection, processing, storage, and bioassay. Thus, it is important to establish research laboratory protocols that are based on well-informed rationales and to carefully consider and control for relevant variables. APPROACH: A synthesis of laboratory sciences literature regarding variables affecting CRH measurement in pregnancy is presented. Additionally, consultation with experienced researchers provided an in-depth understanding of CRH measurement. From these sources, a laboratory protocol for clinical research was developed. RESULTS: Multiple variables that are specific to the reliability of CRH measurement in pregnancy have been identified. These include sample collection methods, sample processing, sample integrity, sample storage, and the actual assay selected. CONCLUSION: The reliability of CRH measurements can be significantly improved by identifying and controlling for variables encountered during sample collection, processing, storage, and bioassay. Adequate methodological details are difficult to glean solely from the published literature, thus consultation with well-informed researchers is necessary. A protocol for CRH bioassay in clinical research is proposed.

The interrelationship of maternal stress, endocrine factors and inflammation on gestational length.

Preterm birth rates continue to rise in the United States despite the advent of tocolytic agents and the identification of risk factors for preterm birth, such as vaginal infection and a shortened cervix. Although improvement in gestational-age-related survival of preterm infants has occurred as a result of the use of antenatal corticosteroids, neonatal surfactant therapy, and regionalization of perinatal care, there has been no reduction in the incidence of preterm birth. Recently, investigators have appreciated that the etiology of preterm birth is heterogeneous, perhaps accounting for one reason for the failure of current interventions to improve pregnancy outcome. Both abnormal maternal hormonal homeostasis and intrauterine inflammatory responses appear to contribute to a significant proportion of the cases of preterm birth, and the interaction of the maternal endocrine and immunologic systems may contribute to the pathophysiology of this condition. An important modulator of endocrine and immune function is perceived emotional and social stress. Maternal stress has been strongly associated with preterm birth, but the links between maternal stress and resultant aberrations of maternal endocrine and immune function remain difficult to quantify and investigate. However, new insights into the role of perceived maternal stress on gestational length suggest that specific interventions to alleviate stress could contribute to an increase in gestational length and a decrease in the risk for preterm birth. This review addresses the role of maternal stress on the regulation of maternal hormone and inflammatory responses and how aberrations in these systems may lead to preterm birth.