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1.
Healthcare (Basel) ; 12(3)2024 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-38338227

RESUMEN

The aims of this study were to compare, between pregnant individuals with and without bariatric surgery: (1) eating behaviors, (2) intuitive eating components and, (3) attitudes towards weight gain. This retrospective study included data collected in healthy pregnant individuals with and without previous bariatric surgery who were recruited at the Centre Hospitalier Universitaire (CHU) de Québec-Université Laval. Pregnant individuals who underwent bariatric surgery (biliopancreatic bypass with duodenal switch [n = 14] or sleeve gastrectomy [n = 5]) were individually matched, for age (±0.4 years) and body mass index (BMI) (±0.3 kg/m2), with pregnant individuals who have not received bariatric surgery. In the second trimester, participants completed the Three Factor Eating Questionnaire (TFEQ) and the Intuitive Eating Scale 2 (IES-2). In the third trimester, participants completed the French version of the Pregnancy Weight Gain Attitude Scale assessing attitudes towards weight gain. Pregnant individuals who have had bariatric surgery had a higher score for flexible restraint and a lower score for situational susceptibility to disinhibition compared to individuals who have not had undergone bariatric surgery (2.89 ± 1.15 vs. 1.95 ± 1.31; p = 0.04 and 1.11 ± 1.29 vs. 2.79 ± 1.44, respectively; p < 0.001). Regarding intuitive eating, pregnant individuals who experienced bariatric surgery had a higher score for reliance on internal hunger and satiety cues and a lower one for unconditional permission to eat compared with those who had not experienced bariatric surgery (3.99 ± 0.81 vs. 3.30 ± 1.03; p = 0.02 and 3.28 ± 0.54 vs. 3.61 ± 0.68, respectively; p = 0.03). No difference in attitudes towards weight gain was observed between groups. Overall, pregnant individuals who had undergone bariatric surgery had different eating behaviors and intuitive eating components compared to pregnant individuals without bariatric surgery. These results need to be confirmed in further studies with larger sample sizes.

2.
Exp Physiol ; 108(11): 1376-1385, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37642495

RESUMEN

Sleep-disordered breathing is a respiratory disorder commonly experienced by pregnant women. The recurrent hypoxaemic events associated with sleep-disordered breathing have deleterious consequences for the mother and fetus. Adult male (but not female) rats born to dams subjected to gestational intermittent hypoxia (GIH) have a higher resting blood pressure than control animals and show behavioural/neurodevelopmental disorders. The origin of this persistent, sex-specific effect of GIH in offspring is unknown, but disruption of the neuroendocrine stress pathways is a key mechanism by which gestational stress increases disease risk in progeny. Using FosB immunolabelling as a chronic marker of neuronal activation, we determined whether GIH augments basal expression of FosB in the perikaryas of cells in the paraventricular nucleus of the hypothalamus (PVN), a key structure in the regulation of the stress response and blood pressure. From gestational day 10, female rats were subjected to GIH for 8 h/day (light phase) until the day before delivery (gestational day 21); GIH consisted of 2 min hypoxic bouts (10.5% O2 ) alternating with normoxia. Control rats were exposed to intermittent normoxia over the same period (GNX). At adulthood (10-15 weeks), the brains of male and female rats were harvested for FosB immunohistochemistry. In males, GIH augmented PVN FosB labelling density by 30%. Conversely, PVN FosB density in GIH females was 28% lower than that of GNX females. We conclude that GIH has persistent and sex-specific impacts on the development of stress pathways, thereby offering a plausible mechanism by which GIH can disturb neural development and blood pressure homeostasis in adulthood. NEW FINDINGS: What is the central question of this study? In pregnant women, sleep apnoea increases the risk of disease for the offspring at various life stages. Given that gestational stress disrupts the programming of the stress pathways, we determined whether exposing female rats to gestational intermittent hypoxia (GIH) activates hypothalamic neurons regulating the stress response in adult rats. What is the main finding and its importance? Using FosB immunolabelling as a marker of marker of neuronal activation, we showed that GIH augmented basal activation of the paraventricular nucleus of the hypothalamus in males, but not females. Disruption of the stress pathways is a new hypothesis to explain the persistent and sex-specific impacts of GIH on offspring health.


Asunto(s)
Hipertensión , Síndromes de la Apnea del Sueño , Animales , Femenino , Humanos , Masculino , Embarazo , Ratas , Hipotálamo/metabolismo , Hipoxia , Núcleo Hipotalámico Paraventricular/metabolismo , Ratas Sprague-Dawley
3.
JMIR Res Protoc ; 12: e40262, 2023 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-37399052

RESUMEN

BACKGROUND: Osteogenesis imperfecta (OI) is a rare bone fragility disorder associated with muscle weakness. Individuals with OI may therefore benefit from exercise interventions aiming to improve muscle and bone strength. Given the rarity of OI, many patients do not have access to exercise specialists who are familiar with the disorder. As such, telemedicine, the provision of health care through technology to provide care at a distance, may be well suited for this population. OBJECTIVE: The main objectives are (1) to investigate the feasibility and cost-effectiveness of 2 telemedicine approaches for the delivery of an exercise intervention for youth with OI and (2) to assess the impact of the exercise intervention on muscle function and cardiopulmonary fitness in youth with OI. METHODS: Patients with OI type I (the mildest form of OI; n=12, aged 12-16 years) from a pediatric orthopedic tertiary hospital will be randomized to receive a 12-week remote exercise intervention in either (1) a supervised group (n=6), monitored every session, or (2) a follow-up group (n=6), receiving monthly progress update appointments. Participants will undergo the following pre- and postintervention evaluations: sit-to-stand test, push-up test, sit-up test, single-legged balance test, and a heel-rise test. Both groups will be given the same 12-week exercise regimen, which includes cardiovascular, resistance, and flexibility training. For each exercise training session involving the supervised group, a kinesiologist will provide instructions to participants through live video sessions using a teleconferencing application. On the other hand, the follow-up group will discuss their progress with the kinesiologist every 4 weeks over a teleconferencing video call. Feasibility will be assessed by recruitment, adherence, and completion rates. A cost-effectiveness analysis of both approaches will be computed. Changes in muscle function and cardiopulmonary fitness will be examined between the 2 groups, pre- and postintervention. RESULTS: It is anticipated that the supervised group will have higher adherence and completion rates compared to the follow-up group, which may be associated with greater physiological benefits; however, it may not be as cost-effective compared to the follow-up approach. CONCLUSIONS: By determining the most feasible telemedicine approach, this study may serve as a basis for providing increased access to specialized adjunct therapies for individuals with rare disorders. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/40262.

4.
J Musculoskelet Neuronal Interact ; 23(2): 175-188, 2023 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-37259657

RESUMEN

OBJECTIVES: To evaluate the intra-rater repeatability and the inter-rater reproducibility of using a virtual goniometer to measure upper and lower extremity joint range of motion (ROM) in youths with arthrogryposis multiplex congenita (AMC). METHODS: Youths presenting with AMC aged 8 to 21 years old were recruited. ROM of the upper and lower limbs were assessed remotely during a teleassessment on a video-conferencing platform. Screen captures were taken and ROM were measured by two raters, two-weeks apart, using a virtual goniometer. Intraclass correlation coefficient (ICC) and associated 95% confidence interval (CI) were calculated to assess intra-and inter-rater repeatability and reproducibility. RESULTS: Nine participants were included with a median age of 15.9 years (range: 11.3 to 20.8 years). The overall intra-rater ICC was 0.997 (95% CI:0.996 to 0.997) for the first rater and 0.993 (95% CI:0.992 to 0.994) for the second rater. The inter-rater ICC ranged from 0.410 (95% CI:-0.392; 0.753) for forearm pronation to 0.998 (95% CI:0.996; 0.999) for elbow flexion. CONCLUSIONS: Results of the current study suggest that virtual goniometry is reproducible and repeatable for the ROM of most joints. Future studies should evaluate procedural reliability and validity of the proposed method for youth with complex conditions.


Asunto(s)
Artrogriposis , Humanos , Adolescente , Niño , Adulto Joven , Adulto , Artrogriposis/diagnóstico , Artrometría Articular/métodos , Reproducibilidad de los Resultados , Rango del Movimiento Articular , Extremidad Inferior
5.
Front Physiol ; 14: 1183933, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37265841

RESUMEN

CO2 is a fundamental component of living matter. This chemical signal requires close monitoring to ensure proper match between metabolic production and elimination by lung ventilation. Besides ventilatory adjustments, CO2 can also trigger innate behavioral and physiological responses associated with fear and escape but the changes in brain CO2/pH required to induce ventilatory adjustments are generally lower than those evoking fear and escape. However, for patients suffering from panic disorder (PD), the thresholds for CO2-evoked hyperventilation, fear and escape are reduced and the magnitude of those reactions are excessive. To explain these clinical observations, Klein proposed the false suffocation alarm hypothesis which states that many spontaneous panics occur when the brain's suffocation monitor erroneously signals a lack of useful air, thereby maladaptively triggering an evolved suffocation alarm system. After 30 years of basic and clinical research, it is now well established that anomalies in respiratory control (including the CO2 sensing system) are key to PD. Here, we explore how a stress-related affective disorder such as PD can disrupt respiratory control. We discuss rodent models of PD as the concepts emerging from this research has influenced our comprehension of the CO2 chemosensitivity network, especially structure that are not located in the medulla, and how factors such as stress and biological sex modulate its functionality. Thus, elucidating why hormonal fluctuations can lead to excessive responsiveness to CO2 offers a unique opportunity to gain insights into the neuroendocrine mechanisms regulating this key aspect of respiratory control and the pathophysiology of respiratory manifestations of PD.

6.
Adv Exp Med Biol ; 1427: 61-71, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37322336

RESUMEN

Sleep apnea (SA) is a major respiratory disorder with increased risk for hypertension and obesity; however, our understanding of the origins of this complex disorder remains limited. Because apneas lead to recurrent drops in O2 during sleep, intermittent hypoxia (IH) is the main animal model to explore the pathophysiology of SA. Here, we assessed the impacts of IH on metabolic function and related signals. Adult male rats were exposed to 1 week of moderate IH (FiO2 = 0.10-30 s, ten cycles/hour, 8 h/day). Using whole-body plethysmography, we measured respiratory variability and apnea index during sleep. Blood pressure and heart rate were measured by the tail-cuff method; blood samples were taken for multiplex assay. At rest, IH augmented arterial blood pressure, respiratory instability, but not apnea index. IH induced weight, fat, and fluid loss. IH also reduced food intake and plasma leptin, adrenocorticotropic hormone (ACTH), and testosterone levels but increased inflammatory cytokines. We conclude that IH does not replicate the metabolic clinical features of SA patient, thus raising our awareness of the limitations of the IH model. The fact that the risk for hypertension occurs before the appearance of apneas provides new insights into the progression of the disease.


Asunto(s)
Hipertensión , Síndromes de la Apnea del Sueño , Masculino , Ratas , Animales , Hipoxia , Hipertensión/etiología , Pérdida de Peso , Fenotipo
7.
J Gynecol Obstet Hum Reprod ; 52(2): 102519, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36529367

RESUMEN

OBJECTIVE: More than half of pregnant Canadian people exceed current gestational weight gain recommendations, which has been associated with adverse outcomes for both parent and child. Although the physiological causes of excessive gestational weight gain have been well investigated, few studies have evaluated the context of gestational weight gain and body changes through the perspective of pregnant people. Therefore, we aim to explore factors influencing body changes and weight gain during pregnancy as experienced by pregnant individuals. METHODS: A total of three focus groups and six individual interviews were conducted with pregnant people (n=21) recruited in the 2nd or 3rd trimester. A semi-structured interview guide was developed according to a pre-existing conceptual model by Hill et al., 2013. Focus groups and interviews were recorded, transcribed, and thematically analysed using NVivo software. FINDINGS: Results were categorized into four main themes, based on the conceptual model: (1) parental psychological, social and cognitive factors, (2) outcomes, (3) parental behaviors and (4) health behavior change constructs. Participants identified structural, social, professional, and especially partner support (1), health-related strategies (2), body image (1) and knowledge of gestational weight gain recommendations (3) as influent components of their body changes experience. CONCLUSIONS: In this study, the themes addressed affect both pregnant individuals and their relatives. Enhanced knowledge of gestational weight gain recommendations in this population, support from relatives and quality of follow-up offered by health professionals must therefore be considered as possible avenues of intervention.


Asunto(s)
Ganancia de Peso Gestacional , Embarazo , Femenino , Niño , Humanos , Canadá , Aumento de Peso , Investigación Cualitativa , Personal de Salud
8.
J Acad Nutr Diet ; 122(10): 1911-1921, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35367418

RESUMEN

BACKGROUND: Knowing the percentage of women planning a pregnancy who meet preconception dietary and physical activity (PA) guidelines and which health-related preconception factors are associated with body mass index (BMI) could help improve preconception care. OBJECTIVES: In a study conducted in women who were planning to conceive, the aims were to describe and compare eating and PA habits to current guidelines, as well as to identify the factors associated with BMI. DESIGN: This was a cross-sectional study. PARTICIPANTS/SETTING: From 2017 to 2020, women planning to conceive within the next year (n = 217) were recruited in the province of Québec (Canada) to participate in the Apports Nutritionnels durant la GrossessE - Cohorte Contrôle study. Among them, 184 (84.8%) were included in the analyses. MAIN OUTCOME MEASURES: Women completed three (90.2%) or two (9.8%) Web-based 24-hour dietary recalls and the International Physical Activity Questionnaire. Weight and height as well as the presence/absence of weight/body image concerns were self-reported. Eating and PA habits were compared with dietary reference intakes and Canadian guidelines, respectively. STATISTICAL ANALYSES: Descriptive statistics were used to describe the sample, eating and PA habits, as well as adherence to guidelines. A multivariable regression analysis was performed to identify the factors associated with BMI. RESULTS: On average, women were aged 30.8 ± 4.1 years and identified as White (94.0%). Most of them had weight/body image concerns (58.7%), 54.6% of whom had a normal body weight. Overall, 42.3% engaged in 150 minutes/week or more of moderate-to-vigorous intensity PA and 84.8% consumed <135 g alcoholic beverages per week. Mean dietary intake was below Dietary Reference Intakes for carbohydrates, vitamins D and E, and above Dietary Reference Intakes for total fat and folic acid. Factors associated with a higher BMI were weight/body image concerns (ß = 1.83; R2 = 13.0%), higher dietary protein intake (ß = .05; R2 = 4.0%), lower income (ß = .85; R2 = 2.9%), no folic acid supplementation (ß = .83; R2 = 2.5%), spending less time in moderate-to-vigorous intensity PA (ß = -.006; R2 = 2.4%), eating <2 snacks (ß = .75; R2 = 2.2%), and <3 meals (ß = 1.38; R2 = 1.5%) daily. CONCLUSION: Women planning to conceive do not have optimal eating and PA behaviors. Modifiable factors associated with BMI in preconception were identified.


Asunto(s)
Proteínas en la Dieta , Vitaminas , Índice de Masa Corporal , Canadá , Carbohidratos , Estudios Transversales , Femenino , Humanos , Embarazo
9.
Biol Psychol ; 170: 108307, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35278529

RESUMEN

The amygdala is mainly known for its role in the pathogenesis of anxiety and the initiation of fear responses. However, there is growing evidence showing that the amygdala's ability to respond to internal stimuli such as CO2 is limited, thereby challenging its role in the brain-behavior relationship. Based on these results and the strong inhibitory connections between the central nucleus of the amygdala and key brainstem areas regulating the reflexive respiratory responses to CO2, Feinstein et al. propose amygdala-driven apnea as a novel mechanism in the chemoreceptive origin of anxiety.


Asunto(s)
Apnea , Neurobiología , Amígdala del Cerebelo/fisiología , Encéfalo , Dióxido de Carbono , Humanos
10.
Appl Physiol Nutr Metab ; 47(3): 287-295, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34767478

RESUMEN

The natural inflammation occurring during pregnancy can, under certain conditions, be associated with adverse pregnancy outcomes. This study aimed to (1) quantify changes in circulating concentrations of leptin, adiponectin, interleukin-6 (IL-6) and C-reactive protein (CRP) across trimesters of pregnancy, according to pre-pregnancy body mass index (ppBMI); and (2) examine the trimester-specific associations between the inflammatory markers' concentrations, a Mediterranean diet score (MDS) and the dietary inflammatory index (DII). We measured leptin, adiponectin and IL-6 by ELISA and CRP by high-sensitivity immunonephelometry, in blood samples from 79 pregnant women (age: 32.1 ± 3.7 years; ppBMI: 25.7 ± 5.8 kg/m2). Three Web-based 24-h recalls were completed at each trimester and used to compute the MDS and the DII. CRP concentrations remained stable across trimesters, whereas concentrations of leptin and IL-6 increased, and adiponectin concentrations decreased (p < 0.001). Changes in leptin and adiponectin concentrations also differed according to ppBMI categories (p < 0.05). As for the dietary scores, the only significant association was observed in the second trimester between leptin concentrations and the MDS (r = -0.26, p < 0.05). In conclusion, ppBMI and the progression of pregnancy itself probably supplant the potential associations between diet and the inflammation occurring during that period. Novelty: Circulating leptin and IL-6 concentrations increased across trimesters whereas CRP was stable, and adiponectin decreased. Variations in circulating leptin and adiponectin concentrations differed by ppBMI categories. Very few associations were observed between dietary scores and inflammatory markers.


Asunto(s)
Dieta Mediterránea , Leptina , Adiponectina , Adulto , Biomarcadores , Proteína C-Reactiva/metabolismo , Femenino , Humanos , Inflamación , Embarazo
11.
Clin Chest Med ; 42(3): 391-405, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34353446

RESUMEN

The respiratory system of women and men develops and functions in distinct neuroendocrine milieus. Despite differences in anatomy and neural control, homeostasis of arterial blood gases is ensured in healthy individuals regardless of sex. This convergence in function differs from the sex-based differences observed in many respiratory diseases. Sleep-disordered breathing (SDB) results mainly from episodes of upper airway closure. This complex and multifactorial respiratory disorder shows significant sexual dimorphism in its clinical manifestations and comorbidities. Guided by recent progress from basic research, this review discusses the hypothesis that stress is necessary to reveal the sexual dimorphism of SDB.


Asunto(s)
Trastornos Respiratorios , Síndromes de la Apnea del Sueño , Comorbilidad , Femenino , Humanos , Masculino , Caracteres Sexuales , Sueño , Síndromes de la Apnea del Sueño/epidemiología
12.
J Med Internet Res ; 23(7): e27064, 2021 07 06.
Artículo en Inglés | MEDLINE | ID: mdl-34255680

RESUMEN

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is characterized by joint contractures and muscle weakness, which limit daily activities. Youths with AMC require frequent physical therapeutic follow-ups to limit the recurrence of contractures and maintain range of motion (ROM) and muscle strength; however, access to specialized care may be limited because of geographical distance. Telerehabilitation can offer a potential solution for delivering frequent follow-ups for youth with AMC, but research on the use of telerehabilitation in children with musculoskeletal disorders is scarce. OBJECTIVE: The study aims to evaluate the feasibility of delivering a home exercise program (HEP) by using telerehabilitation for youth with AMC. We also aim to explore the effectiveness of the HEP as a secondary aim. METHODS: Youths aged between 8 and 21 years with AMC were recruited at the Shriners Hospitals for Children-Canada. The participants completed baseline and post-HEP questionnaires (the Physical Activity Questionnaire for Adolescents, Pediatrics Outcomes Data Collection Instrument, and Adolescent and Pediatric Pain Tool), and clinicians assessed their active ROM using a virtual goniometer. Clinicians used the Goal Attainment Scale with the participants to identify individualized goals to develop a 12-week HEP and assess the achievement of these goals. Follow-ups were conducted every 3 weeks to adjust the HEP. Data on withdrawal rates and compliance to the HEP and follow-ups were collected to assess the feasibility of this approach. The interrater reliability of using a virtual goniometer was assessed using the intraclass correlation coefficient and associated 95% CI. Nonparametric tests were used to evaluate feasibility and explore the effectiveness of the HEP. RESULTS: Of the 11 youths who were recruited, 7 (median age: 16.9 years) completed the HEP. Of the 47 appointments scheduled, 5 had to be rescheduled in ≤24 hours. The participants performed their HEP 2.04 times per week (95% CI 1.25-4.08) and reported good satisfaction with the approach. A general intraclass correlation coefficient of 0.985 (95% CI 0.980-0.989) was found for the web-based ROM measurement. Individualized goals were related to pain management; endurance in writing, standing, or walking; sports; and daily activities. In total, 12 of the 15 goals set with the participants were achieved. Statistically significant improvements were observed in the pain and comfort domain of the Pediatrics Outcomes Data Collection Instrument (preintervention: median 71; 95% CI 34-100; postintervention: median 85; 95% CI 49-100; P=.08) and Physical Activity Questionnaire for Adolescents (preintervention: median 1.62; 95% CI 1.00-2.82; postintervention: median 2.32; 95% CI 1.00-3.45; P=.046). CONCLUSIONS: The remote delivery of an HEP for youth with AMC is feasible. Promising results were found for the effectiveness of the HEP in helping youths with AMC to achieve their goals. The next step will be to assess the effectiveness of this exercise intervention in a randomized controlled trial. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.2196/18688.


Asunto(s)
Artrogriposis , Telerrehabilitación , Adolescente , Adulto , Niño , Terapia por Ejercicio , Humanos , Proyectos Piloto , Reproducibilidad de los Resultados , Adulto Joven
13.
Health Sci Rep ; 4(1): e243, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33614980

RESUMEN

BACKGROUND AND AIMS: Bile acids are known to contribute to hepatic glucose and lipid metabolism regulation. Although glucose homeostasis sustains well-characterized modifications during uncomplicated pregnancies, changes in bile acids concentrations and relative proportions throughout pregnancy remain unknown. Furthermore, literature shows strong associations between bile acids profiles and glucose homeostasis under normal metabolic conditions. We seek, first, to characterize bile acids' metabolic changes across trimesters and, second, to evaluate associations between changes in bile acids and glucose homeostasis indexes in the first and second trimesters. METHODS: A total of 78 women were recruited and followed at each trimester of pregnancy. Fasting serum samples were collected once per trimester in which quantitative measurement of 30 different bile acids' molecules were performed using liquid chromatography with tandem mass spectrometry (LC-MS/MS). Glucose homeostasis indexes were measured in the first and second trimesters, after a 12-hour fast and following a 75 g oral glucose tolerance test. RESULTS: Total bile acids increased from the first trimester to late pregnancy, along with the cholic acid: chenodeoxycholic acid and conjugated: unconjugated bile acids ratios. Changes in bile acids were positively associated with elevated peripheral and hepatic insulin resistance indexes, as well as with trimestral changes in these indexes. CONCLUSION: Our findings suggest that modifications occurring in bile acids' profiles during normal pregnancy are associated with changes in glucose homeostasis. Further research is needed to examine the nature of those associations and the possible outcome of bile acids changes on pathological glucose homeostasis alterations during pregnancy.

14.
Am J Physiol Regul Integr Comp Physiol ; 319(4): R455-R465, 2020 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-32783688

RESUMEN

Hibernators suppress physiological processes when expressing torpor, yet little is known about the effects of torpor on male reproductive physiology. Studies of hibernating mammals suggest that deep torpor negatively impacts spermatogenesis and that transitions between torpor and euthermic arousals increase cellular oxidative stress, with potentially damaging effects on sperm. Here, we hypothesize that variation in torpor expression affects the reproductive readiness of hibernators by impacting their sperm production. To test this, we examined the relationship between torpor expression and spermatogenesis in captive eastern chipmunks (Tamias striatus). We determined torpor depth with temperature data loggers and assessed its relationship with spermatogenesis by examining spermatogenic progression, cell division, sperm counts, sperm maturity, and DNA damage. We show that deep hibernators (high levels of torpor) largely halted spermatogenesis in late hibernation in comparison with shallow hibernators (low levels of torpor), where ongoing spermatogenesis was observed. Despite these differences in spermatogenic state during hibernation, spermatogenic progression, sperm numbers, and maturity did not differ in spring, potentially reflecting similar degrees of reproductive readiness. Interestingly, shallow hibernators exhibited higher rates of DNA damage in spermatogenic cells during hibernation, with this trend reversing in spring. Our results thus indicate that once heterothermy is terminated, deep hibernators resume spermatogenesis but are characterized by higher rates of DNA damage in spermatogenic cells at the seasonal stage when spring mating commences. Therefore, our study confirmed posthibernation recovery of sperm production but also a potential impact of deep torpor expression during winter on DNA damage in spring.


Asunto(s)
Temperatura Corporal/fisiología , Hibernación/fisiología , Sciuridae/fisiología , Espermatogénesis/fisiología , Letargo/fisiología , Animales , Daño del ADN/fisiología , Metabolismo Energético/fisiología , Masculino , Recuento de Espermatozoides , Temperatura
15.
Heredity (Edinb) ; 125(5): 290-303, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32728043

RESUMEN

Genes of the major histocompatibility complex (MHC) are involved in acquired immunity in vertebrates. Only a few studies have investigated the fitness consequences of MHC gene diversity in wild populations. Here, we looked at the association between annual survival and body mass and MHC-DRB exon 2 (MHC-DRB) genetic diversity, obtained from high-throughput sequencing, in two declining migratory caribou (Rangifer tarandus) herds. To disentangle the potential direct and general effects of MHC-DRB genetic diversity, we compared different indices of diversity that were either based on DNA-sequence variation or on physicochemical divergence of the translated peptides, thereby covering a gradient of allelic-to-functional diversity. We found that (1) body mass was not related to MHC-DRB diversity or genotype, and (2) adult survival probability was negatively associated with point accepted mutation distance, a corrected distance that considers the likelihood of each amino acid substitution to be accepted by natural selection. In addition, we found no evidence of fluctuating selection over time on MHC-DRB diversity. We concluded that direct effects were involved in the negative relationship between MHC functional diversity and survival, although the mechanism underlying this result remains unclear. A possible explanation could be that individuals with higher MHC diversity suffer higher costs of immunity (immunopathology). Our results suggest that genetic diversity is not always beneficial even in genes that are likely to be strongly shaped by balancing selection.


Asunto(s)
Migración Animal , Complejo Mayor de Histocompatibilidad , Reno , Alelos , Sustitución de Aminoácidos , Animales , Peso Corporal , Femenino , Genes MHC Clase II , Variación Genética , Complejo Mayor de Histocompatibilidad/genética , Masculino , Reno/genética , Selección Genética , Análisis de Supervivencia
16.
JMIR Res Protoc ; 9(6): e18688, 2020 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-32589157

RESUMEN

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is characterized by joint contractures present in at least two body areas. In addition to these contractures, individuals with AMC can have decreased muscle mass, leading to limitations in activities of daily living. Exercise has the potential to maintain or improve the range of motion and muscle strength. However, this type of intervention necessitates frequent follow ups that are currently difficult to provide for youths with AMC because they often live far from a specialized hospital. To overcome this distance challenge, telecommunication technologies can be used to deliver rehabilitation remotely, which is called telerehabilitation. The study protocol for one such type of rehabilitation will be presented in this paper. OBJECTIVE: This pilot study aims to (1) evaluate the feasibility of using telerehabilitation to provide a home exercise program for youths with AMC, and (2) assess the effectiveness of a home exercise program. METHODS: A total of 10 youths aged 8-21 years with AMC will be recruited. The intervention consists of a 12-week individualized home-based exercise program delivered remotely using telerehabilitation. At baseline, youths will complete the Physical Activity Questionnaire for Adolescents and the Pediatrics Outcomes Data Collection Instrument to assess pain, function, and level of physical activity. During the first telerehabilitation meeting, the rehabilitation therapists will measure range of motion using a virtual goniometer and assess the youth's functional level. The therapists will then use the Goal Attainment Scale to set objectives and develop the individualized intervention. Follow ups will occur every 3 weeks to make sure exercises are performed safely and to progress the exercises when needed. At the end of the 12-week intervention, rehabilitation therapists will re-evaluate the youth using the same outcome measures as the initial evaluation. The youths will be asked to complete the same questionnaires, with the addition of questions about their satisfaction regarding the intervention. Nonparametric and descriptive statistics will be used to evaluate the feasibility and effectiveness. RESULTS: Ethics approval was obtained in October 2018. Recruitment and data collection started in January 2019 and was completed in May 2020. CONCLUSIONS: This pilot study will help us learn how a large-scale project may work in practice to improve outcomes in physical activity, pain, and function, and goal attainment among youths with AMC, thus informing a future clinical trial. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/18688.

17.
J Evol Biol ; 32(12): 1368-1381, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31514251

RESUMEN

Identifying inbreeding depression early in small and declining populations is essential for management and conservation decisions. Correlations between heterozygosity and fitness (HFCs) provide a way to identify inbreeding depression without prior knowledge of kinship among individuals. In Northern Quebec and Labrador, the size of two herds of migratory caribou (Rivière-George, RG and Rivière-aux-Feuilles, RAF) has declined by one to two orders of magnitude in the last three decades. This raises the question of a possible increase in inbreeding depression originating from, and possibly contributing to, the demographic decline in those populations. Here, we tested for the association of genomic inbreeding indices (estimated with 22,073 SNPs) with body mass and survival in 400 caribou sampled in RG and RAF herds between 1996 and 2016. We found no association of individual heterozygosity or inbreeding coefficient with body mass or annual survival. Furthermore, those genomic inbreeding indices remained stable over the period monitored. These results suggest that the rapid and intense demographic decline of the herds did not cause inbreeding depression in those populations. Although we found no evidence for HFCs, if demographic decline continues, it is possible that such inbreeding depression would be triggered.


Asunto(s)
Genética de Población , Depresión Endogámica , Reno/genética , Factores de Edad , Migración Animal , Animales , Peso Corporal/genética , Femenino , Heterocigoto , Masculino , Terranova y Labrador , Polimorfismo de Nucleótido Simple , Quebec
19.
Am J Med Genet C Semin Med Genet ; 181(3): 410-426, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31350946

RESUMEN

Arthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures present in two or more body areas. Lack of fetal movement is the underlying cause of AMC, which can lead to abnormal connective tissue surrounding the joint resulting in stiffness and muscle atrophy. Treatment aims at improving function and mobility through surgical and/or conservative interventions. A scoping review was conducted to explore the existing knowledge of the evaluation and treatment of muscle and joint function in children with AMC. Three search engines were included and identified 1,271 articles. Eighty-seven studies met the selection criteria and were included in this review. All included studies focused on joints, 30 of which also assessed the muscle. Assessment most often included the position of the contractures (n = 72), as well as range of motion (n = 66). Interventions to improve muscle and joint function were reported in 82 of the 87 papers and included surgery (n = 70) and conservative interventions (n = 74) with bony surgery (i.e., osteotomy) the most common surgery and rehabilitation the most common conservative intervention. Recurrences of contractures were mentioned in 46 of the 68 studies providing a follow-up. Future studies should use validated measures to assess muscle and joint function, and conservative interventions should be described in greater detail and to include a longer follow-up.


Asunto(s)
Artrogriposis/fisiopatología , Articulaciones/fisiopatología , Músculos/fisiopatología , Niño , Humanos , Rango del Movimiento Articular/fisiología
20.
Mol Ecol ; 2018 Aug 06.
Artículo en Inglés | MEDLINE | ID: mdl-30080945

RESUMEN

Hibernation, the use of prolonged torpor to depress metabolism, is employed by mammals to conserve resources during extended periods of extreme temperatures and/or resource limitation. Mammalian hibernators arouse to euthermy periodically during torpor for reasons that are not well understood, and these arousals may facilitate immune processes. To determine whether arousals enable host responses to pathogens, we used dual RNA-Seq and a paired sampling approach to examine gene expression in a hibernating bat, the little brown myotis (Myotis lucifugus). During torpor, transcript levels differed in only a few genes between uninfected wing tissue and adjacent tissue infected with Pseudogymnoascus destructans, the fungal pathogen that causes white-nose syndrome. Within 70-80 min after emergence from torpor, large changes in gene expression were observed due to local infection, particularly in genes involved in pro-inflammatory host responses to fungal pathogens, but also in many genes involved in immune responses and metabolism. These results support the hypothesis that torpor is a period of relative immune dormancy and arousals allow for local immune responses in infected tissues during hibernation. Host-pathogen interactions were also found to regulate gene expression in the pathogen differently depending on the torpor state of the host. Hibernating species must balance the benefits of energy and water conservation achieved during torpor with the costs of decreased immune competence. Interbout arousals allow hibernators to optimize these, and other, trade-offs during prolonged hibernation by enabling host responses to pathogens within brief, periodic episodes of euthermy.

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