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1.
Int. j. med. surg. sci. (Print) ; 8(1): 1-10, mar. 2021.
Artigo em Espanhol | LILACS | ID: biblio-1151623

RESUMO

La alimentación es un acto complejo que requiere integración entre los sistemas nerviosos central y periférico, las estructuras gastrointestinales, cardiopulmonares, mecanismo velofaríngeo, estructuras craneofaciales y musculoesqueléticas. Para que se convierta en un acto placentero para el niño, dependerá de las experiencias sensoriales vividas o aprendidas en los primeros meses de vida y de la interacción con el entorno y sus cuidadores. Por ello, es de extrema importancia el amamantamiento exclusivo durante los primeros seis meses y su complementación hasta los dos años de vida del niño, para que pueda transitar los períodos de cambios en la dieta sin traumas ni estrés. Cualquier interrupción en este proceso puede llevar a una pérdida en la introducción y desarrollo de la nutrición, generando una dificultad alimentaria (AD). Esta se define como cualquier problema que puede influir negativamente en la forma en que los padres y los cuidadores proporcionan alimentos al niño, y sus probables consecuencias son alteración en el desarrollo general, oral, motriz, sensorial y psicosocial, dependiendo de la gravedad del caso. El fonoaudiólogo puede intervenir mediante enfoques amplios e integradores, con el fin de lograr una alimentación más segura y eficaz, estimulando el sistema sensorial motor oral, mejorando la masticación y promoviendo una mayor coordinación entre las funciones de succión, respiración y deglución. Los niños con síndrome de Down, al poseer una determinada condición genética, presentan algunas características clínicas como la protrusión lingual, alteraciones en la deglución, disminución del tono muscular, reflujo gastroesofágico, intolerancia alimentaria, mala absorción intestinal, paladar ojival, coordinación motora deficiente y otros factores que pueden causar un retraso en el desarrollo del sistema estomatognático, facilitando la aparición de dificultades en la alimentación. Sabiendo que la nutrición es un factor importante para el desarrollo saludable del niño, el objetivo de este estudio es presentar los datos disponibles en la literatura sobre las dificultades de alimentación en los niños con síndrome de Down.


Feeding is a complex act that requires integration between the central and peripheral nervous systems, gastrointestinal and cardiopulmonary process, velopharyngeal mechanism, craniofacial and musculoskeletal structures. To become a pleasurable act for the child, it will depend on the sensory experiences lived or learned in the first months of life and the interaction with the environment and its caregivers. therefore, exclusive breastfeeding in the first six months and supplementation until the baby's two years is extremely important to the child can go through periods of dietary changes without trauma and stress. Any interference in this process can generate impairment in the introduction and development of feeding, creating feeding difficulty. This is defined as any problem that can negatively influence how parents and caregivers provide food for the child, and its probable consequences are changes in the overall development, oral motor and psychosocial development, depending on the severity of the case. The speech therapist can intervene through broad and integrative approaches, aiming a safer and more effective diet, through the stimulation of the oral motor sensory system, improving chewing and promoting greater coordination between the suction, breathing and swallowing functions. Children with Down Syndrome, for having a specific genetic condition, have some clinical characteristics such as tongue protrusion, swallowing disorders, decreased muscle tone, gastroesophageal reflux, food intolerance, intestinal malabsorption, ogival palate, impaired motor coordination and other factors that can cause a delay in the development of the stomatognathic system, facilitating the appearance of feeding difficulties. Knowing that nutrition is an important factor for the healthy development of the child, the aim of this study is to present the data available in the literature about feeding difficulties in children with Down Syndrome.


Assuntos
Humanos , Criança , Fenômenos Fisiológicos da Nutrição Infantil , Síndrome de Down/complicações , Nutrição da Criança
2.
Neuroimage ; 228: 117728, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33421595

RESUMO

INTRODUCTION: Adults with Down syndrome (DS) are predisposed to Alzheimer's disease (AD) and reveal early amyloid beta (Aß) pathology in the brain. Positron emission tomography (PET) provides an in vivo measure of Aß throughout the AD continuum. Due to the high prevalence of AD in DS, there is need for longitudinal imaging studies of Aß to better characterize the natural history of Aß accumulation, which will aid in the staging of this population for clinical trials aimed at AD treatment and prevention. METHODS: Adults with DS (N = 79; Mean age (SD) = 42.7 (7.28) years) underwent longitudinal [C-11]Pittsburgh compound B (PiB) PET. Global Aß burden was quantified using the amyloid load metric (AßL). Modeled PiB images were generated from the longitudinal AßL data to visualize which regions are most susceptible to Aß accumulation in DS. AßL change was evaluated across Aß(-), Aß-converter, and Aß(+) groups to assess longitudinal Aß trajectories during different stages of AD-pathology progression. AßL change values were used to identify Aß-accumulators within the Aß(-) group prior to reaching the Aß(+) threshold (previously reported as 20 AßL) which would have resulted in an Aß-converter classification. With knowledge of trajectories of Aß(-) accumulators, a new cutoff of Aß(+) was derived to better identify subthreshold Aß accumulation in DS. Estimated sample sizes necessary to detect a 25% reduction in annual Aß change with 80% power (alpha 0.01) were determined for different groups of Aß-status. RESULTS: Modeled PiB images revealed the striatum, parietal cortex and precuneus as the regions with earliest detected Aß accumulation in DS. The Aß(-) group had a mean AßL change of 0.38 (0.58) AßL/year, while the Aß-converter and Aß(+) groups had change of 2.26 (0.66) and 3.16 (1.34) AßL/year, respectively. Within the Aß(-) group, Aß-accumulators showed no significant difference in AßL change values when compared to Aß-converter and Aß(+) groups. An Aß(+) cutoff for subthreshold Aß accumulation was derived as 13.3 AßL. The estimated sample size necessary to detect a 25% reduction in Aß was 79 for Aß(-) accumulators and 59 for the Aß-converter/Aß(+) group in DS. CONCLUSION: Longitudinal AßL changes were capable of distinguishing Aß accumulators from non-accumulators in DS. Longitudinal imaging allowed for identification of subthreshold Aß accumulation in DS during the earliest stages of AD-pathology progression. Detection of active Aß deposition evidenced by subthreshold accumulation with longitudinal imaging can identify DS individuals at risk for AD development at an earlier stage.


Assuntos
Doença de Alzheimer/diagnóstico por imagem , Peptídeos beta-Amiloides/metabolismo , Encéfalo/diagnóstico por imagem , Síndrome de Down/complicações , Síndrome de Down/diagnóstico por imagem , Adulto , Doença de Alzheimer/etiologia , Doença de Alzheimer/patologia , Encéfalo/metabolismo , Encéfalo/patologia , Progressão da Doença , Síndrome de Down/patologia , Feminino , Humanos , Estudos Longitudinais , Masculino , Tomografia por Emissão de Pósitrons
3.
BMJ Case Rep ; 14(1)2021 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-33509880

RESUMO

Anastomotic leakage (AL) occurs in 15% of cases of primary repair of oesophageal atresia. Urgent surgery is indicated in cases of complete anastomotic separation or severe mediastinitis. Otherwise, conservative management including keeping the patient nil per os (NPO), feeding via transanastomotic tube and prolonged parenteral nutrition, has been widely accepted as it can avoid multiple surgeries in neonates and allow oesophageal continuity to be preserved. However, complications relating to prolonged feeding tube use are common downsides to this approach and the negative impact of prolonged NPO on mastication and swallowing function cannot be ignored.In this case report, a novel approach for the treatment of AL with fibrin glue is reported, following primary repair of oesophageal atresia. It was endoscopically injected into the leakage site to enhance healing and early closure. This procedure was safely performed and achieved early establishment of oral feeding.


Assuntos
Fístula Anastomótica/terapia , Atresia Esofágica/cirurgia , Estenose Esofágica/cirurgia , Adesivo Tecidual de Fibrina/uso terapêutico , Adesivos Teciduais/uso terapêutico , Anastomose Cirúrgica , Síndrome de Down/complicações , Atresia Esofágica/complicações , Esofagoscopia/métodos , Feminino , Gastrostomia , Humanos , Lactente , Recém-Nascido , Complicações Pós-Operatórias/terapia , Diagnóstico Pré-Natal , Procedimentos Cirúrgicos Reconstrutivos/métodos
4.
BMJ Case Rep ; 14(1)2021 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-33504538

RESUMO

A 32-year-old man with Down's syndrome was referred to the ear, nose and throat (ENT) department in view of failed attempts at extubation, and subsequently, at decannulation of tracheotomy tube. He had previously required ventilatory support and had history of intubation for 1 week. A flexible fibre-optic laryngoscopy showed a smooth mass covering the laryngeal inlet which moved with respiration. Direct laryngoscopy under general anaesthesia revealed a smooth mucosa covered fleshy mass arising from the left aryepiglottic fold and arytenoid, obstructing the laryngeal inlet. The mass was removed using controlled plasma ablation, and histopathological examination of the same was consistent with lymphangioma. Endoscopic examinations during the regular follow-up visits revealed well-healed supraglottic area with adequate glottic chink and the patient could be successfully decannulated.


Assuntos
Obstrução das Vias Respiratórias/diagnóstico , Neoplasias Laríngeas/diagnóstico , Linfangioma/diagnóstico , Técnicas de Ablação , Adulto , Obstrução das Vias Respiratórias/complicações , Obstrução das Vias Respiratórias/cirurgia , Infecções Comunitárias Adquiridas/terapia , Síndrome de Down/complicações , Humanos , Neoplasias Laríngeas/complicações , Neoplasias Laríngeas/cirurgia , Laringoscopia , Linfangioma/complicações , Linfangioma/cirurgia , Masculino , Pneumonia/terapia , /terapia , Traqueostomia
5.
Nat Rev Cancer ; 21(2): 89-103, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33432169

RESUMO

Aneuploidy has been recognized as a hallmark of tumorigenesis for more than 100 years, but the connection between chromosomal errors and malignant growth has remained obscure. New evidence emerging from both basic and clinical research has illuminated a complicated relationship: despite its frequency in human tumours, aneuploidy is not a universal driver of cancer development and instead can exert substantial tumour-suppressive effects. The specific consequences of aneuploidy are highly context dependent and are influenced by a cell's genetic and environmental milieu. In this Review, we discuss the diverse facets of cancer biology that are shaped by aneuploidy, including metastasis, drug resistance and immune recognition, and we highlight aneuploidy's distinct roles as both a tumour promoter and an anticancer vulnerability.


Assuntos
Aneuploidia , Resistencia a Medicamentos Antineoplásicos/genética , Neoplasias/genética , Evasão Tumoral/imunologia , Animais , Carcinogênese/genética , Carcinogênese/imunologia , Linhagem Celular Tumoral , Transformação Celular Neoplásica/genética , Transformação Celular Neoplásica/imunologia , Modelos Animais de Doenças , Síndrome de Down/complicações , Síndrome de Down/genética , Resistencia a Medicamentos Antineoplásicos/imunologia , Humanos , Camundongos , Metástase Neoplásica/genética , Metástase Neoplásica/imunologia , Neoplasias/imunologia , Fenótipo , Evasão Tumoral/genética , Microambiente Tumoral/genética , Microambiente Tumoral/imunologia
6.
Pediatr Dent ; 42(6): 430-435, 2020 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-33369553

RESUMO

Purpose: The purpose of this study was to investigate the oral care experiences and challenges encountered by children with Down syndrome. Methods: Participants were 372 parents of five- to 14-year-olds with Down syndrome. Parents completed a 48-item questionnaire designed by the authors to elicit information about oral care in the home and dental office. Descriptive statistics were used to examine oral care variables. Results: Parents reported difficulty across almost all oral care variables, including oral care in the home, oral care at the dentist, and access to oral care. Approximately one-third of parent respondents reported that toothbrushing was difficult and brushing occurred four or fewer days a week. Over half of the respondents reported that it was difficult to have a dental professional clean their child's teeth, uncooperative behaviors and sensory sensitivities increased in the office, and those behaviors and sensitivities made care challenging. Most respondents reported having a dental home for their child, that it was difficult locating their dentist, and that finances limited visits. Conclusions: Children with Down syndrome experience difficulties and barriers to care in both the home and dental office settings.


Assuntos
Cuidadores , Síndrome de Down , Criança , Síndrome de Down/complicações , Humanos , Saúde Bucal , Pais , Inquéritos e Questionários , Escovação Dentária
7.
Medicine (Baltimore) ; 99(51): e23710, 2020 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-33371118

RESUMO

INTRODUCTION: The typical manifestations of patients with a trisomy 21 syndrome are mental retardation and anatomical deformities of face and neck. In the available literature, all case reports regarding anesthetic management of mentally retarded patients have focused on elective surgeries. There is no report regarding anesthetic management of mentally retarded patients undergoing emergency surgery. PATIENT CONCERNS: A 47-year-old woman with a mental retardation grade 2 by trisomy 21 syndrome suffered from an esophageal foreign body for 3 days and needed emergency removal of esophageal foreign body. The patient had a poor cooperation and obvious anatomical abnormalities of head and neck. DIAGNOSES: Difficult anesthesia and airway managements for emergency removal of esophageal foreign bodies in a trisomy 21patients with mental retardation and predicted difficult airways. INTERVENTIONS: Combined use of an intubating supraglottic airway and the flexible bronchoscope-guided intubation after intravenous anesthesia induction. OUTCOMES: Effective airway was safely established and an esophageal foreign body was successfully removed by rigid esophagoscopy under anesthesia. The patient recovered smoothly without any complication. LESSONS SUBSECTIONS AS PER STYLE: When general anesthesia and emergency airway management are required in the patients with mental retardation and predicted difficult airways, a combination of the supraglottic airway and the flexible bronchoscope maybe a safe and useful choice for airway control.


Assuntos
Manuseio das Vias Aéreas/métodos , Síndrome de Down/complicações , Esôfago/cirurgia , Corpos Estranhos/cirurgia , Deficiência Intelectual/complicações , Esofagoscopia/métodos , Esôfago/anormalidades , Feminino , Humanos , Pessoa de Meia-Idade
8.
BMC Pediatr ; 20(1): 561, 2020 12 18.
Artigo em Inglês | MEDLINE | ID: mdl-33339516

RESUMO

BACKGROUND: Down syndrome (DS) is characterized by a series of immune dysregulations, of which interferon hyperreactivity is important, as it is responsible for surging antiviral responses and the possible initiation of an amplified cytokine storm. This biological condition is attributed to immune regulators encoded in chromosome 21. Moreover, DS is also characterized by the coexistence of obesity and cardiovascular and respiratory anomalies, which are risk factors for coronavirus disease (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). CASE PRESENTATION: A total of 55 children were admitted to the pediatric ward in Bergamo, between February and May 2020 for COVID-19. Here, we describe the cases of two children with DS and a confirmed COVID-19 diagnosis who had a severe course. In addition, both cases involved one or more comorbidities, including cardiovascular anomalies, obesity, and/or obstructive sleep apnea. CONCLUSIONS: Our observations indicate that children with DS are at risk for severe COVID-19 disease course.


Assuntos
/complicações , Síndrome de Down/complicações , Índice de Gravidade de Doença , Adolescente , Pré-Escolar , Síndrome de Down/imunologia , Síndrome de Down/terapia , Feminino , Defeitos dos Septos Cardíacos/complicações , Humanos , Obesidade Pediátrica/complicações , Fatores de Risco , Apneia Obstrutiva do Sono/complicações
10.
J Biol Regul Homeost Agents ; 34(4 Suppl. 2): 99-106, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33000608

RESUMO

This study examined the prevalence and distribution of elevated systolic pulmonary arterial pressure, measured by echocardiography, in young patients with down syndrome associated or not with congenital heart disease and surgical correction during childhood. Pulmonary artery systolic pressure, computed by regurgitant tricuspid flow velocity evaluation, is the most frequently used parameter for the screening of pulmonary hypertension. Down syndrome and congenital heart disease often coexist and the probability to detect elevated systolic pulmonary arterial pressure in this setting is high. However, little is known about the evaluation of pulmonary arterial pressure during growth of patients with down syndrome with or without congenital heart disease. We enrolled 47 young patients (55% of male sex; mean age: 18.4 ± 6.0 years), 40 with congenital heart disease and 7 without a cardiac defect. Systolic pulmonary arterial pressure was assessed by echocardiography. No difference was found in the population dichotomized by presence or absence of CHD. Only male sex (p=0.000), highly sensitive troponin-T (P=0.027), tricuspid annular plane systolic excursion (TAPSE, p=0.045) and sPAP (p=0.004) were elevated in surgical group. The ASD was found as, the most common structural abnormality in our patients (50%), followed by VSD (27.5%) and complex CHD (such as complete atrioventricular canal defect, CAVC = 25% and Fallot disease = 15%). Furthermore, about 45% of patients had the combined defect. Only 37.5% of patients underwent to corrective surgery during the first months of life. We observed a significantly increase of sPAP values in patients with complex CHD, such as CAVC (p=0.019) and Fallot disease (p=0.001) but, in the following multivariate analysis performed in the patients with CHD, only Fallot disease remains as independent predictors of elevated values of sPAP (p=0.022). An elevated systolic pulmonary arterial pressure may represent the key screening tool in the diagnostic assessment of suspect pulmonary arterial hypertension in high risk population with down syndrome regardless the presence of congenital heart disease.


Assuntos
Síndrome de Down , Cardiopatias Congênitas , Adolescente , Pressão Sanguínea , Criança , Síndrome de Down/complicações , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/epidemiologia , Feminino , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/epidemiologia , Humanos , Masculino , Prevalência , Artéria Pulmonar/diagnóstico por imagem , Adulto Jovem
11.
JAMA ; 324(15): 1543-1556, 2020 10 20.
Artigo em Inglês | MEDLINE | ID: mdl-33079159

RESUMO

Importance: Down syndrome is the most common chromosomal condition, and average life expectancy has increased substantially, from 25 years in 1983 to 60 years in 2020. Despite the unique clinical comorbidities among adults with Down syndrome, there are no clinical guidelines for the care of these patients. Objective: To develop an evidence-based clinical practice guideline for adults with Down syndrome. Evidence Review: The Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup (n = 13) developed 10 Population/Intervention/ Comparison/Outcome (PICO) questions for adults with Down syndrome addressing multiple clinical areas including mental health (2 questions), dementia, screening or treatment of diabetes, cardiovascular disease, obesity, osteoporosis, atlantoaxial instability, thyroid disease, and celiac disease. These questions guided the literature search in MEDLINE, EMBASE, PubMed, PsychINFO, Cochrane Library, and the TRIP Database, searched from January 1, 2000, to February 26, 2018, with an updated search through August 6, 2020. Using the GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) methodology and the Evidence-to-Decision framework, in January 2019, the 13-member Workgroup and 16 additional clinical and scientific experts, nurses, patient representatives, and a methodologist developed clinical recommendations. A statement of good practice was made when there was a high level of certainty that the recommendation would do more good than harm, but there was little direct evidence. Findings: From 11 295 literature citations associated with 10 PICO questions, 20 relevant studies were identified. An updated search identified 2 additional studies, for a total of 22 included studies (3 systematic reviews, 19 primary studies), which were reviewed and synthesized. Based on this analysis, 14 recommendations and 4 statements of good practice were developed. Overall, the evidence base was limited. Only 1 strong recommendation was formulated: screening for Alzheimer-type dementia starting at age 40 years. Four recommendations (managing risk factors for cardiovascular disease and stroke prevention, screening for obesity, and evaluation for secondary causes of osteoporosis) agreed with existing guidance for individuals without Down syndrome. Two recommendations for diabetes screening recommend earlier initiation of screening and at shorter intervals given the high prevalence and earlier onset in adults with Down syndrome. Conclusions and Relevance: These evidence-based clinical guidelines provide recommendations to support primary care of adults with Down syndrome. The lack of high-quality evidence limits the strength of the recommendations and highlights the need for additional research.


Assuntos
Síndrome de Down/terapia , Adulto , Doença de Alzheimer/complicações , Doença de Alzheimer/epidemiologia , Doenças Cardiovasculares/complicações , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/prevenção & controle , Comorbidade , Complicações do Diabetes/epidemiologia , Síndrome de Down/complicações , Medicina Baseada em Evidências , Humanos , Programas de Rastreamento , Obesidade/complicações
12.
PLoS One ; 15(9): e0239040, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32915911

RESUMO

BACKGROUND: Individuals with Down syndrome are predisposed to a number of chronic health conditions, but the relationship between these conditions and cognitive ability is not clear. The primary objective of this systematic review is to assess this relationship by evaluating studies that measure cognitive performance in the context of Down syndrome-associated chronic health conditions. METHODS: A systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) guidelines. Studies included in this review (1) included children, adolescent, and young adult participants with Down syndrome and one or more co-occurring health conditions; (2) were quantitative; and (3) reported outcomes related to both chronic health conditions and cognitive performance. A set of predetermined chronic health conditions that are common in Down syndrome (e.g. sleep disorders, congenital heart disease, thyroid disease, seizure disorders, and pulmonary hypertension) were selected based on prevalence rates in Down syndrome. RESULTS: Fifteen studies met inclusion criteria. The majority these of studies assessed cognitive performance in association with sleep disorders (47%) and congenital heart disease (47%). Fewer studies reported on the effect of thyroid disease (7%) and seizure disorders (7%) on cognitive ability. None of the studies reported cognitive outcomes related to pulmonary hypertension. Of the chronic health conditions evaluated, associations between sleep disorders and cognitive dysfunction were most common among individuals with Down syndrome. CONCLUSIONS: Individuals with Down syndrome exhibit deficits in cognitive ability, particularly related to attention, executive function and verbal processing. These deficits may be further exacerbated by the presence of chronic health conditions, particularly sleep disorders. Individuals with Down syndrome and co-occurring sleep disorders may benefit from early interventions to mitigate their risk for adverse cognitive outcomes.


Assuntos
Transtornos Cognitivos/complicações , Síndrome de Down/complicações , Síndrome de Down/psicologia , Adolescente , Doenças Cardiovasculares/complicações , Criança , Doença Crônica , Transtornos Cognitivos/psicologia , Epilepsia/complicações , Feminino , Humanos , Pneumopatias/complicações , Masculino , Transtornos do Sono-Vigília/complicações , Transtornos do Sono-Vigília/psicologia , Doenças da Glândula Tireoide/complicações , Adulto Jovem
13.
Rev. cuba. pediatr ; 92(3): e677, jul.-set. 2020. graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1126771

RESUMO

Introducción: La malabsorción de glucosa y de galactosa es una enfermedad genética autosómica recesiva debida a una mutación que afecta al cotransportador de sodio-glucosa. Objetivo: Describir una asociación infrecuente entre el síndrome de Down y la mala absorción de glucosa y de galactosa. Presentación del caso: Niño desnutrido de 3 ½ meses de edad con síndrome de Down, de padres consanguíneos. Presentó precozmente diarrea explosiva, vómitos con deshidratación. Se mejoró tras la eliminación de la alimentación oral y la perfusión hidroelectrolítica y empeoró con la utilización de las sales de rehidratación oral y las fórmulas lácteas, sin proteínas de leche de vaca. El estudio de las heces mostró un pH fecal /5, presencia de glucosa, ionograma de las 24 horas fue: sodio 0,5 mEq (1-10), potasio 2,6 mEq (8-22) y el cálculo realizado para distinguir entre diferentes causas de diarrea dio aumentado: 168 mOsm/kg (50-125). Ante este cuadro clínico se consideró el diagnóstico de malabsorción de glucosa y de galactosa sobre todo tras la mejora de la sintomatología bajo dieta exclusivamente azucarada con fructosa. Conclusiones: Es importante tener en cuenta la malabsorción de glucosa y de galactosa dentro de los diagnósticos diferenciales de las diarreas acuosas congénitas. El diagnóstico precoz y la dieta adecuada con fructosa evitan deshidratación y malnutrición. La particularidad de nuestro caso es la asociación de la malabsorción de glucosa y de galactosa con el síndrome de Down, que, según nuestro conocimiento, es la primera vez que se describe y podría aumentar la morbilidad(AU)


Introduction: Malabsorption of glucose and galactose is a genetic autosomic recesive disease caused by a mutation that affects the co-transportator of sodium-glucose. Objective: To describe an unfrequent relation between the Down syndrome and the malabsortion of glucose and galactose. Case presentation: Undernourished child, 3 and half months old with Down syndrome from parents by blood. He early presented explosive diarrhea and vomiting with dehydration. He improved his state after elimination of oral feeding and a hydroelectrolitic perfusion, and his state worsened with the use of oral rehydration salts and dairy formula, even without cow´s milk proteins. The study of feces showed a fecal pH /5, presence of glucose, and the ionogram after 24 hours showed: sodium 0,5mEg (1-10), potasium 2,6 mEg (8-22) and the calculation made to identify the different causes of diarrhea was increased: 168 mOsm/kg (50-125). Having this clinical records, it was considered a diagnostic of glucose and galactose malabsorption, mainly after the improvement of the symptoms under a diet exclusively sugared with fructose. Conclusions: It is important to take into account glucose and galactose malabsortion in the differential diagnosis of congenital watery diahrrea. The early diagnosis and an adequate diet with fructose avoid dehytration and malnutrition. The particularity of this case is the relation of glucose and galactose malabsorption with Down syndrome, that according to our knowledge is the first time it is described and it can increase the morbility(AU)


Assuntos
Humanos , Masculino , Lactente , Síndrome de Down/complicações , Intolerância à Glucose/complicações , Síndromes de Malabsorção/complicações , Galactose/análise
14.
Obstet Gynecol ; 136(3): 518-523, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32769650

RESUMO

OBJECTIVE: To estimate receipt of recommended gynecologic care, including cancer screening and menstrual care, among women with Down syndrome in the United States. METHODS: We conducted a retrospective cohort study of women participating in DS-Connect, the National Institute of Health's registry of women with Down syndrome. Using 2013-2019 survey data, we estimated the proportion of women receiving recommended age-appropriate well-woman care (Pap tests, mammogram, breast examination, pelvic examination) and compared receipt of gynecologic care to receipt of other preventive health care. We also estimated proportion receiving care for menstrual regulation. RESULTS: Of 70 participants with Down syndrome, 23% (95% CI 13-33) of women received all recommended gynecologic components of a well-woman examination. Forty-four percent (95% CI 32-56) of women aged 18 years and older reported ever having a gynecologic examination, and 26% (95% CI 15-37) reported ever having a Pap test. Of women aged 40 years or older, 50% (95% CI 22-78) had had a mammogram. Fifty-two percent (95% CI 41-65) had tried medication for menstrual regulation, and 89% (95% CI 81-96) received all recommended components of nongynecologic routine health care. CONCLUSION: Women with Down syndrome received gynecologic care, including cancer screening, at lower-than-recommended rates and at substantially lower rates than other forms of health care. Efforts to improve gynecologic care in this vulnerable population are needed.


Assuntos
Síndrome de Down , Doenças dos Genitais Femininos/prevenção & controle , Necessidades e Demandas de Serviços de Saúde/estatística & dados numéricos , Serviços de Saúde para Pessoas com Deficiência/estatística & dados numéricos , Serviços Preventivos de Saúde/estatística & dados numéricos , Serviços de Saúde Reprodutiva/estatística & dados numéricos , Adulto , Idoso , Estudos de Coortes , Síndrome de Down/complicações , Feminino , Doenças dos Genitais Femininos/complicações , Humanos , Pessoa de Meia-Idade , Sistema de Registros , Estudos Retrospectivos , Estados Unidos , Adulto Jovem
15.
Curr Diab Rep ; 20(9): 47, 2020 08 25.
Artigo em Inglês | MEDLINE | ID: mdl-32839884

RESUMO

PURPOSE OF REVIEW: An increased frequency of autoimmunity in children with Down syndrome (DS) is well described but few studies have investigated the underlying mechanisms. Recent immune system investigation of individuals with DS may shed light on the increased risk of autoimmune conditions including type 1 diabetes. RECENT FINDINGS: Diagnosis of type 1 diabetes is accelerated in children with DS with 17% diagnosed at, or under, the age of 2 years compared with only 4% in the same age group in the general population. Counterintuitively, children with DS and diabetes have less human leukocyte antigen (HLA)-mediated susceptibility than age-matched children with autoimmune diabetes from the general population. Early onset of diabetes in DS is further highlighted by the recent description of neonatal cases of diabetes which is autoimmune but not HLA associated. There are two potential explanations for this accelerated onset: (1) an additional chromosome 21 increases the genetic and immunological risk of autoimmune diabetes or (2) there are two separate aetiologies in children with DS and diabetes. Autoimmunity in DS is an under-investigated area. In this review, we will draw on recent mechanistic studies in individuals with DS which shed some light on the increased risk of autoimmunity in children with DS and consider the current support for and against two aetiologies underlying diabetes in children with DS.


Assuntos
Diabetes Mellitus Tipo 1 , Síndrome de Down , Ilhotas Pancreáticas , Autoanticorpos , Autoimunidade , Criança , Diabetes Mellitus Tipo 1/complicações , Síndrome de Down/complicações , Antígenos de Histocompatibilidade Classe II , Humanos , Sistema Imunitário
18.
Artigo em Inglês | MEDLINE | ID: mdl-32664499

RESUMO

Background: Subjects with Down Syndrome (DS) are characterized by specific physiological alterations, including musculoskeletal abnormalities. Flat Foot (FF), caused by hypotonia and ligament laxity, represents one of the most common disabling disorders in this population. Conservative treatments promote the use of orthopaedic insoles and plantar supports. The aim of this study was to evaluate the impact of Foot Orthoses (FOs) on the gait pattern of subjects with DS, assessing the biomechanical effects associated with their use. Methods: Twenty-nine subjects were screened under two conditions-walking barefoot (WB); with shoes and insoles (WSI), during three trials for each. Assessments were performed through the 3D gait analysis, using an optoelectronic system, force platforms, and video recording. Specifically, synthetic indices of gait kinematics, i.e., gait profile score (GPS) and gait variable score (GVS) were calculated and compared with Wilcoxon signed-rank test, to evaluate between-conditions. Results: Significant variations were found in GVS foot progression index, representative of foot rotation during walking, in adolescents only. Conclusions: Bilateral FOs has a positive immediate impact on gait quality in adolescents with DS, as confirmed by quantitative analysis. FOs prescription is an evidence-based early approach to slow down biomechanical abnormalities and prevent relative symptoms.


Assuntos
Fenômenos Biomecânicos/fisiologia , Síndrome de Down/fisiopatologia , Pé Chato/fisiopatologia , Órtoses do Pé , Marcha/fisiologia , Adolescente , Adulto , Síndrome de Down/complicações , Feminino , Pé Chato/etiologia , Pé Chato/terapia , Humanos , Masculino , Resultado do Tratamento , Caminhada
19.
J Pediatr ; 225: 246-248, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32610168

RESUMO

With increasing information available about the epidemiology, pathophysiology, and management of patients affected with severe acute respiratory syndrome corona virus-2 infection, patients with Down syndrome, congenital heart disease, airway obstruction, and pulmonary hypertension present a unique challenge. This case series describes 3 patients with Down syndrome and respiratory failure secondary to coronavirus infection.


Assuntos
Infecções por Coronavirus/complicações , Síndrome de Down/complicações , Cardiopatias Congênitas/complicações , Hipertensão Pulmonar/complicações , Pneumonia Viral/complicações , Adulto , Betacoronavirus , Pré-Escolar , Feminino , Humanos , Masculino , Pandemias , Fatores de Risco , Adulto Jovem
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