keyword
https://read.qxmd.com/read/38555111/clinical-report-of-bosma-arhinia-microphthalmia-syndrome-with-a-new-variant-on-smchd1-gene-a-case-report
#1
REVIEW
José Atencia Goñi, María Orera Clemente, Mariano José Del Valle Diéguez, Laura González Fernández, Olga González Albarrán
The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis...
March 2024: Endocrinología, diabetes y nutrición
https://read.qxmd.com/read/38503323/comparison-between-the-karvi-scale-and-the-child-development-evaluation-test-edi-as-a-screening-tool-for-suspected-neurodevelopmental-delay
#2
JOURNAL ARTICLE
Carolina Tovar-Moreno, Miguel A Karlis-Rangel, Susana A Villarreal-Guerra, Fernanda P García-Ayón, Jesús Santos-Guzmán, Belinda Carrión-Chavarría
BACKGROUND: Early detection of suspected neurodevelopmental delay allows for timely diagnosis and appropriate intervention, for which numerous screening tests have been developed. However, most are complex and impractical for health-care workers at the community level. This study aimed to validate the KARVI scale in the neurodevelopment assessment of children under 1 year of age. METHODS: We conducted an observational, longitudinal, comparative, inferential, and prospective study...
2024: Boletín Médico del Hospital Infantil de México
https://read.qxmd.com/read/36515514/the-risk-of-distant-metastases-in-patients-with-clinical-complete-response-managed-by-watch-and-wait-after-neoadjuvant-therapy-for-rectal-cancer-the-influence-of-local-regrowth-in-the-international-watch-and-wait-database
#3
MULTICENTER STUDY
Laura M Fernandez, Guilherme P São Julião, Andrew G Renehan, Geerard L Beets, Ana L Papoila, Bruna B Vailati, Renu R Bahadoer, Elma Meershoek-Klein Kranenbarg, Annet G H Roodvoets, Nuno L Figueiredo, Cornelis J H Van De Velde, Angelita Habr-Gama, Rodrigo O Perez
BACKGROUND: Nearly 30% of patients with rectal cancer develop local regrowth after initial clinical complete response managed by watch and wait. These patients might be at higher risk for distant metastases. OBJECTIVE: This study aimed to investigate risk factors for distant metastases using time-dependent analyses. DESIGN: Data from an international watch and wait database were retrospectively reviewed. Cox regression analysis was used to determine risk factors for worse distant metastases-free survival...
January 1, 2023: Diseases of the Colon and Rectum
https://read.qxmd.com/read/35866737/neuropsychological-and-physical-development-of-patients-diagnosed-with-congenital-hypothyroidism-at-the-san-ignacio-university-hospital-between-2001-and-2017
#4
JOURNAL ARTICLE
María Fernanda Unigarro, Catalina Forero, Camila Céspedes
Introduction: Congenital hypothyroidism is the leading cause of preventable cognitive disability in the world. Therefore, screening programs have been developed in order to reduce the neurological sequelae associated with this pathology. Objective: To describe the demographic characteristics, the treatment, and the follow-up of patients diagnosed with congenital hypothyroidism in the screening program at the San Ignacio University Hospital in Bogotá, Colombia. Materials and methods: We conducted an observational cross-sectional study...
May 1, 2022: Biomédica: Revista del Instituto Nacional de Salud
https://read.qxmd.com/read/34962746/-update-on-mechanisms-of-pituitary-tumorigenesis
#5
REVIEW
Laura Anahi Cecenarro, Gabriela Deisi Moyano Crespo, Jorge Humberto Mukdsi
Pituitary adenomas are intracranial neoplasms that originate from the adeno-pituitary cells, are mostly benign and slow growing. However, a small percentage can be aggressive and spread locally and / or remotely as malignancies. In recent years, progress has been made in understanding the biology of pituitary tumors, identifying mutations in the germline, somatic lines, and epigenetic mechanisms. Objective: review the updated bibliography on the mechanisms of pituitary tumorigenesis. Data source: bibliographic search was performed using the MEDLINE (PubMed), LILACS and Google Scholar databases since 2010 to April 2020...
December 28, 2021: Revista de la Facultad de Ciencias Médicas
https://read.qxmd.com/read/34934211/comparison-of-growth-and-psychomotor-development-in-daycare-centers-attended-by-professionals
#6
JOURNAL ARTICLE
Enrique Villarreal-Ríos, Cynthia Cruz-Hernández, Karina Morales-Morales, Emma R Vargas-Daza, Liliana Galicia-Rodríguez, Dulce M Isassi-González, Eduardo Guzmán-Padilla
BACKGROUND: Growth and development reflect the child's health condition. Currently, child care is supported in daycare centers. In this context, this article aimed to identify the differences in growth and psychomotor development in children according to their attendance at daycare centers. METHODS: We conducted an analytical cross-sectional study in children aged 25 to 48 months. Two groups were identified: 68 children attended daycare, and 68 children did not attend daycare...
2021: Boletín Médico del Hospital Infantil de México
https://read.qxmd.com/read/34569751/-complicated-cholesteatoma-in-a-child-with-down-syndrome-a-case-report
#7
Roxana Spini, Elena Arias, Florencia Bianchi, Daniela Cohen
Acquired cholesteatoma in children is an aggressive disease due to its rapid growth and high recurrence rate. The complications are divided into intra-and extratemporal complications or intracranial complication. Subperiosteal abscess is the most common extratemporal complication. It is most frequent in young children. However, there are also other associated complications described in the literature. Down syndrome patients have anatomical and functional predisposing factors that contribute to chronic cholesteatomatous otitis media...
October 2021: Archivos Argentinos de Pediatría
https://read.qxmd.com/read/34569747/sex-differences-in-the-canalization-of-child-growth-and-development-an-example-of-genetic-regulation
#8
JOURNAL ARTICLE
Horacio Lejarraga
In case of a disease or nutritional deficit, the growth curve may show deviations from the percentile it was depicting, and once damage is removed, a strong regulatory force tends to restore its path. Such phenomenon is known as catch-up growth and is an example of canalization of growth. Girls are more favored than boys because, when faced with the same damage, their growth (and also their psychomotor development) shows less deviation than that of boys. Such difference is also shown in a higher prevalence among boys of growth retardation in general and some developmental disorders, including autism spectrum disorder and cerebral palsy...
October 2021: Archivos Argentinos de Pediatría
https://read.qxmd.com/read/34559496/skeletal-malformations-and-growth-disturbances-in-fetuses-of-mild-diabetic-rats
#9
JOURNAL ARTICLE
Tahiry Gómez, Milagros García, Leticia Bequer, Cindy Freire, María Aimee Vila, Sonia Clapés
Introduction: Currently, diabetes mellitus represents one of the medical conditions that more frequently complicates pregnancy affecting the fetus’s growth and development. Objective: To determine the skeletal malformations and growth alterations in fetuses of diabetic Wistar rats. Materials and methods: We used a neonatally streptozotocin-induced mild diabetes model (STZ 100 mg/kg body weight - subcutaneously) in Wistar rats. In adulthood, healthy and diabetic rats were mated with healthy males of the same age and strain...
September 22, 2021: Biomédica: Revista del Instituto Nacional de Salud
https://read.qxmd.com/read/34309323/-growth-in-children-and-in-the-offspring-whose-mothers-adhere-to-vegetarian-diets-literature-review
#10
REVIEW
(no author information available yet)
The prevalence of vegetarianism is rising worldwide and there is no consensus about whether it is adequate during the growth period. The objective of this descriptive review is to find out if vegetarian children and children born from mothers who follow vegetarian diets, grow different from those who follow omnivorous diets. Results. 25 articles published between 1995 and 2020 were included describing prenatal and postnatal growth and pubertal development in vegetarian children and children of vegetarian mothers...
August 2021: Archivos Argentinos de Pediatría
https://read.qxmd.com/read/34034916/-delayed-growth-and-puberty-in-gitelman-syndrome
#11
Emilio García García, Marta Jiménez Moreno, Francisco de la Cerda Ojeda
No abstract text is available yet for this article.
December 24, 2021: Medicina Clínica
https://read.qxmd.com/read/32558516/-coronavirus-disease-covid-19-and-sirtuins
#12
REVIEW
Ronald Eleazar Huarachi Olivera, Antonio Lazarte Rivera
Introduction: The NAD+dependent proteins deacetylases are called Sirtuins (SIRT). Objectives: Objectives: this review is to study the sirtuins involved in cancer, as well as SIRT1 inhibition studies in patients with coronavirus disease COVID-19. Data source and selection: For this, a search was made in Medline, Scopus and WOS, where descriptive studies of each of the functions of sirtuins were included, adjusted to recent scientific research...
June 16, 2020: Revista de la Facultad de Ciencias Médicas
https://read.qxmd.com/read/31033418/desaf%C3%A3-os-para-la-promoci%C3%A3-n-de-la-salud-el-caso-del-mercado-de-las-f%C3%A3-rmulas-infantiles-en-m%C3%A3-xico
#13
JOURNAL ARTICLE
Pilar Torre, Monserrat Salas, Consuelo Ingrid Silva
Resumen: se reconoce a la lactancia materna como la modalidad alimentaria ideal para el óptimo crecimiento y desarrollo infantil. En México, la prevalencia nacional de lactancia materna exclusiva entre los menores de 6 meses es de 30.8%, cifra que constituye un desafío a la promoción de la salud. Las fórmulas infantiles se han constituido en productos socialmente aceptables, convenientes y equivalentes, sea por las condiciones del trabajo materno, las dificultades propias de la lactancia, el uso rutinario de fórmulas y biberones durante la atención del parto, la desinformación médica, el prestigio social de las fórmulas, el papel del Estado y la mercadotecnia de fabricantes...
June 2020: Global Health Promotion
https://read.qxmd.com/read/30836758/-the-first-1000-days-an-opportunity-to-reduce-the-burden-of-noncommunicable-diseases
#14
REVIEW
José Manuel Moreno Villares, María Carmen Collado, Elvira Larqué, Rosaura Leis Trabazo, Miguel Saenz De Pipaón, Luis A Moreno Aznar
Growth and development are determined by genetic and environmental factors since the very early embryonic life. Long-term health risks, as obesity and other non-communicable diseases (NCD), could be programmed since these early stages. Early life, characterized by plasticity, is the ideal time to intervene and to prevent the risk of suffering a NCD (window of opportunity). Optimal nutrition during the first 1,000 days, since conception to the end of the second year of life, has a determinant role for long-term health...
March 7, 2019: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://read.qxmd.com/read/30130488/-diagnosis-of-pediatric-arrhythmias-in-the-emergency-department-an-academic-challenge
#15
JOURNAL ARTICLE
Diego Mauricio Bados Enriquez, Pedro Jose Baquero Marín, German Eduardo Rueda Merchan, Aida Luz Giraldo
No abstract text is available yet for this article.
March 27, 2018: Revista de la Facultad de Ciencias Médicas
https://read.qxmd.com/read/29890102/-what-factors-do-a-group-of-women-mothers-of-buenos-aires-consider-when-choosing-their-food
#16
JOURNAL ARTICLE
Marisa Beatriz Vazquez, Damián Conti, Natalia Hamicha, Gabriela Martínez, Mariana Paez, Verónica Zulez, Natalia Elorriaga
The promotion of healthy feeding for the child and family is essential to support the growth and the prevention and treatment of chronic no communicable diseases. Factors influencing food choices are varied. In childhood, although not exclusively, the mother essentially transmits food education. The objective was: to describe the reasons that consider a group of women-mothers of Buenos Aires when selecting food. A structured, self-administered food choice questionnaire with 39 motives was used and a principal component analysis was carried out to synthesize them into groups...
September 8, 2017: Revista de la Facultad de Ciencias Médicas
https://read.qxmd.com/read/28693028/desgarros-del-epitelio-pigmentario-de-la-retina-factores-de-riesgo-mecanismo-y-control-terap%C3%A3-utico
#17
JOURNAL ARTICLE
Christoph R Clemens, Nicole Eter
Los desgarros del epitelio pigmentario de la retina (EPR) se asocian en la mayoría de los casos con los desprendimientos vascularizados del EPR debido a una degeneración macular asociada a la edad (DMAE), y normalmente implican una pérdida adversa de la agudeza visual. Estudios recientes indican que ha habido un aumento en la incidencia de desgarros del EPR desde la introducción de fármacos anti-factor de crecimiento del endotelio vascular (anti-VEGF) así como una asociación temporal entre el desgarro y la inyección intravítrea...
2017: Ophthalmologica. Journal International D'ophtalmologie
https://read.qxmd.com/read/28504510/-guide-for-monitoring-children-s-development-in-pediatric-practice
#18
JOURNAL ARTICLE
(no author information available yet)
The pediatrician is the best-informed professional to whom many families look to be the expert, not only on childhood illnesses but also on development. Early identification, diagnosis and monitoring of these patients are a real challenge for physicians who serve children. This guide provides recommendations for development monitoring, evaluation, diagnosis and follow up of patients with developmental delays and disabilities.
June 1, 2017: Archivos Argentinos de Pediatría
https://read.qxmd.com/read/28097859/-proposal-to-update-the-anthropometric-evaluation-of-the-newborn
#19
JOURNAL ARTICLE
(no author information available yet)
No abstract text is available yet for this article.
February 1, 2017: Archivos Argentinos de Pediatría
https://read.qxmd.com/read/27571856/nutrition-in-early-life-and-the-programming-of-adult-disease-the-first-1000-days
#20
REVIEW
José Manuel Moreno Villares
Development during fetal life and infancy is characterized by rapid growth as well as the maturation of organs and systems. Changes, both in quality and quality, in nutrients during these periods may permanently infl uence the way these organs mature and function. These effects are termed as “programming” and play an important role in the presence of non-transmissible diseases through the lifespan. Specially cardiovascular disease, metabolic disorders and carbohydrate intolerance. Nutritional deficits during pregnancy, leading to intrauterine growth restriction, are associated to a higher risk of type 2 diabetes, and coronary disease among the offspring...
July 12, 2016: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
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