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MedRxiv : the Preprint Server For... May 2024Social determinants of health (SDOH) may impact caregivers' ability to implement evidence-based health practices at home during early childhood, especially in families...
INTRODUCTION
Social determinants of health (SDOH) may impact caregivers' ability to implement evidence-based health practices at home during early childhood, especially in families with children with intellectual and developmental disabilities (IDD). Therefore, we examined the influence of SDOH and children's diagnosis (typically developing [TD], Down syndrome [DS], autism) on caregiver's self-report of meeting evidence-based health practices.
METHODS
Caregivers (n=172) of children ages 2-6 years (TD: n=93, DS: n=40, autism: n=39) completed an online survey on SDOH and health practices related to child nutrition (CN), physical activity (PA), outdoor play (OP), and screen time (ST). A total SDOH score was computed by assigning 1 point for each favorable SDOH metric (range 0-13). Linear regressions were used to examine associations between SDOH and CN, PA, OP, ST health practices and the moderating effect of IDD diagnosis.
RESULTS
Most caregivers were non-Hispanic White (84.3%), female (76.7%), 18-35 years old (55.2%), and married (89.5%). The DS group had the lowest SDOH score (mean = 8.4±1.0) compared to autism (mean = 10.1±1.0) and TD (mean = 11.0±0.9). No family scored 100% in evidence-based practices for any health practice. SDOH score was significantly associated with evidence-based practices met score for CN (b = 1.94, 95% CI = 0.84, 3.04; p = 0.001) and PA (b = 4.86, 95% CI = 2.92, 6.79; p <0.0001). Moderation analysis showed no association in the DS and autism groups between SDOH score and CN percent total score, or between SDOH score and CN, PA, and OP for percent evidence-based practices met. SDOH score was also not associated with OP percent total score for the DS group.
CONCLUSIONS
This study highlights the differential influence of SDOH on caregivers' implementing health practices in families with children of different IDD diagnoses. Future research is needed to understand impacts of SDOH on non-typically developing children.
PubMed: 38826242
DOI: 10.1101/2024.05.23.24307804 -
TheScientificWorldJournal 2024. Down syndrome (DS) is the most common reason for disabilities caused by genetic disorders. Due to the special nature of this disease and the special needs of children...
. Down syndrome (DS) is the most common reason for disabilities caused by genetic disorders. Due to the special nature of this disease and the special needs of children with Down syndrome, they are required to receive their families' support. Therefore, the recognition of their problems and needs and also the alternatives for resolving them and promoting their life quality are very useful. Also, since very limited qualitative studies have been conducted, it seems necessary to design a qualitative study. . This qualitative study was conducted by the content analysis method and through purposeful sampling method with the participation of 26 participants including 15 mothers, 6 fathers, 3 sisters, and 2 brothers of DS children in 2022-2023. The data were collected through semi-structured interviews. . Using the content analysis method of Graneheim and Lundman (2004), the main theme was "Family self-supporting in protecting Down syndrome children." The subthemes were seven including "trying to find information-support resources," "Giving importance to child's health," "religious beliefs of the family," "child moral education, helping to child's relative self-support," "developing familial support," and "developing child's social interactions." . The findings of this study showed that family is the main source of fulfilling the needs of children and their life challenges through using efficient self-support methods. This study introduced family self-support methods in terms of DS children in a way that other families can also manage the problems of their children more efficiently. The present study can be used by trustees of DS to support them and their families. Considering the existence of many problems in children with Down syndrome and the involvement of families, it is suggested that policymakers and community health managers provide the basis for receiving services and social support. For example, it is possible to strengthen the screening systems in the country to diagnose the disease on time and take quick action to solve this problem. Also, by increasing the health insurance coverage and fair distribution of the support resources needed by these people, it promoted the quality of life for them and their families. Also, health policymakers in Iran can take action to increase life expectancy and reduce deaths caused by DS by improving the equitable distribution of health resources and services. Also, public policies should enhance supportive intermediation for prevention and life quality promotion and also decrease health challenges. They are also supposed to lessen the costs of health care. Furthermore, to support social organizations, health service providers and researchers should consider the development of intermediations for the health enhancing and life quality promoting of DS children.
Topics: Down Syndrome; Humans; Male; Female; Qualitative Research; Child; Social Support; Adult; Family; Quality of Life; Child, Preschool; Adolescent
PubMed: 38818108
DOI: 10.1155/2024/9992595 -
World Journal of Cardiology May 2024In this editorial, we comment on the article by Kong published in the recent issue of the . In this interesting case, the authors present the challenges faced in...
In this editorial, we comment on the article by Kong published in the recent issue of the . In this interesting case, the authors present the challenges faced in managing a 13-year-old patient with Down syndrome (DS) and congenital heart disease (CHD) associated with pulmonary arterial hypertension. In this distinct population, the Authors underscore the need for early diagnosis and management as well as the need of a multidisciplinary approach for decision making. It seems that the occurrence of CHD in patients with DS adds layers of complexity to their clinical management. This editorial aims to provide a comprehensive overview of the intricate interplay between DS and congenital heart disorders, offering insights into the nuanced diagnostic and therapeutic considerations for physicians.
PubMed: 38817649
DOI: 10.4330/wjc.v16.i5.217 -
Journal of Innate Immunity 2024Sepsis-associated coagulopathy specifically refers to widespread systemic coagulation activation accompanied by a high risk of hemorrhage and organ damage, which in... (Review)
Review
BACKGROUND
Sepsis-associated coagulopathy specifically refers to widespread systemic coagulation activation accompanied by a high risk of hemorrhage and organ damage, which in severe cases manifests as disseminated intravascular coagulation (DIC), or even develops into multiple organ dysfunction syndrome (MODS). The complement system and the coagulation system as the main columns of innate immunity and hemostasis, respectively, undergo substantial activation after sepsis.
SUMMARY
Dysfunction of the complement, coagulation/fibrinolytic cascades caused by sepsis leads to "thromboinflammation," which ultimately amplifies the systemic inflammatory response and accelerates the development of MODS. Recent studies have revealed that massive activation of the complement system exacerbates sepsis-induced coagulation and even results in DIC, which suggests that inhibition of complement activation may have therapeutic potential in the treatment of septic coagulopathy.
KEY MESSAGES
Sepsis-associated thrombosis involves the upregulation or activation of procoagulant factors, down-regulation or inactivation of anticoagulant factors, and impairment of the fibrinolytic mechanism. This review aims to summarize the latest literature and analyze the underlying molecular mechanisms of the activation of the complement system on the abnormal coagulation cascades in sepsis.
Topics: Humans; Sepsis; Complement Activation; Animals; Blood Coagulation; Disseminated Intravascular Coagulation; Immunity, Innate; Complement System Proteins; Multiple Organ Failure; Fibrinolysis; Blood Coagulation Disorders; Thrombosis
PubMed: 38815564
DOI: 10.1159/000539502 -
Cureus Apr 2024Background and objective Down syndrome (DS) is characterized by the presence of an additional chromosome; it is a typical chromosomal disorder causing intellectual...
The Rapid Evaluation of Down Syndrome With Quantitative Fluorescence Polymerase Chain Reaction (QF-PCR): A Pilot Study Among the Population in Eastern Uttar Pradesh, India.
Background and objective Down syndrome (DS) is characterized by the presence of an additional chromosome; it is a typical chromosomal disorder causing intellectual disability in individuals. The diagnostic process for DS often involves conventional karyotyping, which can be time-consuming. Trisomy 21 and other chromosomal abnormalities may now be quickly and accurately diagnosed using quantitative fluorescence polymerase chain reaction (QF-PCR). In light of this, this study aimed to investigate chromosomal abnormalities in DS using conventional karyotyping and QF-PCR among the population in eastern Uttar Pradesh, India. Methods Blood samples from 40 individuals with clinically diagnosed DS were collected. Conventional karyotyping involved standard cytogenetic techniques, while QF-PCR utilized DNA extraction and analysis with chromosome-specific short tandem repeat (STR) markers. Results Various distinct physical characteristics were observed in the DS individuals, such as mongoloid slant and low-set ears. Karyotyping and QF-PCR analyses revealed different chromosomal configurations associated with DS trisomy 21, with additional chromosomal abnormalities found in some individuals, including partial monosomy 18 and mosaic trisomy 21. However, in a few cases, neither karyotyping nor QF-PCR revealed any abnormalities. Conclusions The study demonstrated that QF-PCR is a reliable and rapid method for diagnosing DS, providing results within 24 hours. This approach allows for the simultaneous diagnosis of a large number of samples and reduces the time required to obtain results. In the diagnostic procedure for DS, we believe QF-PCR will prove to be a useful tool. Furthermore, therapeutic interventions based on their clinical traits and molecular karyotyping can enhance the quality of life of people with DS.
PubMed: 38813278
DOI: 10.7759/cureus.59241 -
Cureus May 2024A 31-month-old girl with trisomy 21 (Down syndrome) was seen in the emergency department of pediatrics because of oxygen desaturation associated with features of lower...
Successful Cardiac Surgical Management in a Trisomy 21 Child After Long-Term Hospitalization Associated With Bronchopneumonia and Hepatitis C Virus Seropositivity: A Case Report.
A 31-month-old girl with trisomy 21 (Down syndrome) was seen in the emergency department of pediatrics because of oxygen desaturation associated with features of lower respiratory tract infections. She was born at full term and diagnosed with congenital heart disease (CHD) having ventricular septal defect (VSD), and patent ductus arteriosus (PDA); consequently, she underwent corrective surgery after adequate optimization of treatment. Incidentally, she was detected to have the presence of anti-hepatitis C virus (HCV) antibodies. In this case report, we mainly focus on the multi-modal approach to medical and surgical management.
PubMed: 38813073
DOI: 10.7759/cureus.61309 -
Scientific Reports May 2024Adults with Down syndrome have a genetic form of Alzheimer's disease (AD) and evidence of cerebrovascular disease across the AD continuum, despite few systemic vascular...
Adults with Down syndrome have a genetic form of Alzheimer's disease (AD) and evidence of cerebrovascular disease across the AD continuum, despite few systemic vascular risk factors. The onset and progression of AD in Down syndrome is highly age-dependent, but it is unknown at what age cerebrovascular disease emerges and what factors influence its severity. In the Alzheimer's Biomarker Consortium-Down Syndrome study (ABC-DS; n = 242; age = 25-72), we estimated the age inflection point at which MRI-based white matter hyperintensities (WMH), enlarged perivascular spaces (PVS), microbleeds, and infarcts emerge in relation to demographic data, risk factors, amyloid and tau, and AD diagnosis. Enlarged PVS and infarcts appear to develop in the early 30s, while microbleeds, WMH, amyloid, and tau emerge in the mid to late 30s. Age-residualized WMH were higher in women, in individuals with dementia, and with lower body mass index. Participants with hypertension and APOE-ε4 had higher age-residualized PVS and microbleeds, respectively. Lifespan trajectories demonstrate a dramatic cerebrovascular profile in adults with Down syndrome that appears to evolve developmentally in parallel with AD pathophysiology approximately two decades prior to dementia symptoms.
Topics: Humans; Down Syndrome; Alzheimer Disease; Female; Male; Adult; Aged; Middle Aged; Cerebrovascular Disorders; Magnetic Resonance Imaging; Risk Factors; White Matter; Age Factors; Aging; tau Proteins
PubMed: 38811657
DOI: 10.1038/s41598-024-61962-y -
Science Advances May 2024Surface plasmons have proven their ability to boost the sensitivity of mid-infrared hyperspectral imaging by enhancing light-matter interactions. Surface phonons, a...
Surface plasmons have proven their ability to boost the sensitivity of mid-infrared hyperspectral imaging by enhancing light-matter interactions. Surface phonons, a counterpart technology to plasmons, present unclear contributions to hyperspectral imaging. Here, we investigate this by developing a plasmon-phonon hyperspectral imaging system that uses asymmetric cross-shaped nanoantennas composed of stacked plasmon-phonon materials. The phonon modes within this system, controlled by light polarization, capture molecular refractive index intensity and lineshape features, distinct from those observed with plasmons, enabling more precise and sensitive molecule identification. In a deep learning-assisted imaging demonstration of severe acute respiratory syndrome coronavirus (SARS-CoV), phonons exhibit enhanced identification capabilities (230,400 spectra/s), facilitating the de-overlapping and observation of the spatial distribution of two mixed SARS-CoV spike proteins. In addition, the plasmon-phonon system demonstrates increased identification accuracy (93%), heightened sensitivity, and enhanced detection limits (down to molecule monolayers). These findings extend phonon polaritonics to hyperspectral imaging, promising applications in imaging-guided molecule screening and pharmaceutical analysis.
PubMed: 38809968
DOI: 10.1126/sciadv.ado3179 -
CoDAS 2024To investigate oropharyngeal structures and functions in a pediatric population with Down Syndrome (DS) and obstructive sleep apnea (OSA) and to correlate with the...
PURPOSE
To investigate oropharyngeal structures and functions in a pediatric population with Down Syndrome (DS) and obstructive sleep apnea (OSA) and to correlate with the apnea/hypopnea index (AHI) and sleep questionnaires.
METHODS
12 Children with DS and OSA, between the age of 4 and 12 years old, underwent polysomnography (PSG); sleep questionnaires, Pediatric Sleep Questionnaire (PSQ) and Obstructive Sleep Apnea-18 (OSA-18); and speech-language evaluation using the Short Evaluation of Orofacial Myofunctional Protocol (ShOM).
RESULTS
There was a positive correlation between ShoM higher scores and the apnea-hypopnea index (AHI) and between ShoM and the number of hypopneas. The orofacial myofunctional alterations observed in the studied group were: oral breathing, alteration in lip tonus and competence, tongue posture at rest and in swallowing, and occlusal alteration. There was also an increased risk for OSA according to the sleep questionnaires, as well as the presence of obesity and overweight, but without correlation with the severity of OSA.
CONCLUSION
All DS children show alterations in orofacial characteristics, higher scores being associated to severe OSA. Orofacial myofunctional evaluation may help to identify different phenotypes in Down syndrome children with Obstructive sleep Apnea, enhancing the need for a multidisciplinary approach.
Topics: Humans; Down Syndrome; Sleep Apnea, Obstructive; Child; Pilot Projects; Polysomnography; Male; Female; Child, Preschool; Surveys and Questionnaires; Severity of Illness Index; Mouth Breathing; Tongue; Facial Muscles; Cross-Sectional Studies
PubMed: 38808857
DOI: 10.1590/2317-1782/20242023119pt -
Cureus Apr 2024Down syndrome often coincides with hypothyroidism, a condition that may lead to pericardial effusion (PE), though cardiac tamponade remains an infrequent complication....
Down syndrome often coincides with hypothyroidism, a condition that may lead to pericardial effusion (PE), though cardiac tamponade remains an infrequent complication. Cardiac tamponade is an emergency that requires immediate diagnosis and treatment. Here, we present a case of a patient who presented to the emergency department (ED) with Down syndrome associated with hypothyroidism and underwent immediate pericardiocentesis and pericardial window placement. A 52-year-old male, with a history of Down's syndrome and hypothyroidism, presented to the ED complaining of shortness of breath and chest pain. He had previously been diagnosed with PE. On examination, he exhibited average heart rate, low blood pressure, decreased heart sounds, and jugular venous distention, with no murmur or frictional rub. Initial investigations revealed normal sinus rhythm on EKG but an enlarged cardiac silhouette on chest X-ray. Laboratory tests showed elevated C-reactive protein and sedimentation rate, suggestive of inflammation, while arterial blood gas showed compensated respiratory alkalosis. Thyroid-stimulating hormone (TSH) was elevated. Despite supplemental oxygen, the patient's condition worsened, prompting a bedside ultrasound revealing cardiac tamponade. A cardiology consultation recommended immediate transfer for treatment. At a different hospital, pericardiocentesis was performed, followed by the placement of a pericardial window to prevent recurrence. Follow-up imaging showed improvement in pleural effusion and resolution of cardiac tamponade. The patient's symptoms improved, and he was discharged with regular follow-up. Down's syndrome is a chromosomal disorder characterized by the trisomy of chromosome 21. It is associated with various cardiac complications. Such patients have an elevated risk of PE due to a variety of reasons, such as viral infections, hypothyroidism, or autoimmune diseases. Although PE has been found, the incidence of cardiac tamponade has rarely been reported. The pathogenesis of PE in hypothyroidism is due to the leakage of fluids from the capillaries and the build-up of fluid in the pericardial space. The treatment of PE is treating hypothyroidism with thyroxine. In rare cases like ours, when the patient develops cardiac tamponade, the patient often needs pericardiocentesis. Our patient had to undergo pericardial window placement, as well to prevent recurrent symptoms. In conclusion, this case report sheds light on the occurrence of cardiac tamponade in a patient with Down's syndrome and hypothyroidism, a relatively rare complication that necessitates prompt recognition and intervention. Through this report, we emphasize the importance of considering cardiac tamponade in the differential diagnosis of patients with Down's syndrome presenting with symptoms suggestive of cardiovascular compromise.
PubMed: 38803753
DOI: 10.7759/cureus.59023