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1.
J Refract Surg ; 39(11): 751-758, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37937761

RESUMO

PURPOSE: To evaluate refractive results, corneal higher order aberrations (HOAs), and epithelial remodeling in the preoperative and postoperative period of regular corneas that had topography-guided femtosecond laser-assisted laser in situ keratomileusis (LASIK) (Contoura WaveLight; Alcon Laboratories, Inc) and compare them with the contralateral eye that underwent ablation customized by asphericity (Custom-Q WaveLight; Alcon Laboratories, Inc) in myopic eyes with or without astigmatism. METHODS: A prospective, randomized, and double-blind study was conducted. Patients underwent preoperative and postoperative epithelial mapping and corneal tomography to assess the epithelial thickness map, HOAs of the corneal anterior surface, visual acuity, and refractive evaluation. RESULTS: This study enrolled 96 normal eyes of 48 patients. Uncorrected distance visual acuity of 20/20 or better was achieved in 97% of patients and gains in corrected distance visual acuity and effectiveness in correcting refractive astigmatism were similar in both techniques. Seventeen sectors of the corneal epithelium map were assessed by spectral-domain optical coherence tomography and no significant differences were found between techniques preoperatively and postoperatively (P > .05). HOA root mean square, coma Z3±1, trefoil Z3-3, and tissue consumption exhibited statistically significant between-technique differences (P < .05). CONCLUSIONS: The Contoura and Custom-Q techniques were similar with respect to refractive and visual outcomes after 3 months, as well as in epithelial remodeling. The Contoura provides lower postoperative HOA root mean square, coma Z3±1, and trefoil Z3-3 values, but the techniques showed no differences in the correction of the corneal astigmatic wavefront component and in the spherical aberration after 3 months. [J Refract Surg. 2023;39(11):751-758.].


Assuntos
Astigmatismo , Aberrações de Frente de Onda da Córnea , Ceratomileuse Assistida por Excimer Laser In Situ , Humanos , Ceratomileuse Assistida por Excimer Laser In Situ/métodos , Estudos Prospectivos , Astigmatismo/cirurgia , Método Duplo-Cego , Coma/cirurgia , Topografia da Córnea/métodos , Aberrações de Frente de Onda da Córnea/cirurgia , Resultado do Tratamento , Córnea/cirurgia , Lasers de Excimer/uso terapêutico
2.
Pediátr. Panamá ; 52(2): 65-68, 31 de agosto de 2023.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1451489

RESUMO

La neumonitis por hipersensibilidad o alveolitis alérgica extrínseca se produce como consecuencia de la inhalación repetida de determinadas sustancias orgánicas o antígenos que, en individuos susceptibles, puede producir una inflamación de las paredes alveolares, bronquiolo e intersticio con alteración del intercambio gaseoso. Su presentación clínica puede ser muy diversa según la edad del paciente. Los niños de mayor edad suelen debutar con cuadros de disnea de esfuerzo que progresa hasta aparecer en reposo, hipoxemia y estertores crepitantes en la auscultación. No hay ninguna prueba definitiva que diagnostique por sí misma la enfermedad, pero los hallazgos analíticos, pruebas de imagen y función pulmonar apoyan la sospecha clínica. La medida más importante de tratamiento es evitar la exposición al antígeno responsable. En algunas ocasiones puede ser útil la utilización de corticoides orales. A continuación, presentamos el caso de un menor con datos clínicos de neumonitis por hipersensibilidad secundaria a la exposición a aves con hipertensión pulmonar secundaria. (provisto por Infomedic International)


Hypersensitivity pneumonitis or extrinsic allergic alveolitis occurs because of the repeated inhalation of certain organic substances or antigens which, in susceptible individuals, can cause inflammation of the alveolar, bronchiole and interstice with gas exchange disorder.  Its clinical presentation can be very diverse according to the age of the patient. Older children usually present as dyspnea with exercises that progress to appear at rest, hypoxemia, and rattles on auscultation. There is no definitive test that by itself diagnoses the disease, but laboratory findings, imaging tests, and pulmonary function support clinical suspicion. The most important measure of treatment is to avoid exposure to the responsibility antigen. Sometimes, the use of oral corticosteroids may be useful. Below, we present the case of a minor with clinical data of hypersensitivity pneumonitis secondary to exposure to birds with secondary pulmonary hypertension. (provided by Infomedic International)

3.
Acta Med Port ; 36(6): 401-407, 2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-36877956

RESUMO

INTRODUCTION: Preterm birth is increasing worldwide, representing a major cause of death and long-term loss of human potential among survivors. Some morbidities during pregnancy are well-known risk factors for preterm labor, but it is not yet known whether deviations from adequate dietary patterns are associated with preterm delivery. Diet may be an important modulator of chronic inflammation, and pro-inflammatory diets during pregnancy were reported to be associated with preterm birth. The aim of this study was to assess the food consumption during pregnancy of Portuguese women giving birth very prematurely and the association between the food consumption and the major maternal morbidities during pregnancy related with preterm delivery. MATERIAL AND METHODS: A single-center cross-sectional observational study including consecutive Portuguese women giving birth before 33 weeks of gestation was conducted. Recall of eating habits during pregnancy was obtained within the first week after delivery, using a semi quantitative food frequency questionnaire validated for Portuguese pregnant women. RESULTS: Sixty women with a median age of 36.0 years were included. Of these, 35% were obese or overweight at the beginning of pregnancy, 41.7% and 25.0% gained excessive or insufficient weight during pregnancy, respectively. Pregnancy-induced hypertension was present in 21.7% of cases, gestational diabetes in 18.3%, chronic hypertension in 6.7%, and type 2 diabetes mellitus in 5.0%. Pregnancy-induced hypertension was significantly associated with increased daily consumption of pastry products (31.2 vs 10.0 g, p = 0.022), fast food (39.6 vs 29.7 g, p = 0.028), bread (90.0 vs 50.0 g, p = 0.005), pasta, rice and potatoes (225.7 vs 154.3 g, p = 0.012). In a multivariate analysis, only bread consumption maintained a significant, albeit weak, association (OR = 1.021; 1.003 - 1.038, p = 0.022). CONCLUSION: Pregnancy-induced hypertension was associated with increased consumption of pastry products, fast food, bread, pasta, rice, and potatoes, although only bread consumption had a weak but statistically significant association with pregnancy-induced hypertension in a multivariate analysis.


Assuntos
Diabetes Mellitus Tipo 2 , Hipertensão Induzida pela Gravidez , Nascimento Prematuro , Gravidez , Feminino , Recém-Nascido , Humanos , Adulto , Hipertensão Induzida pela Gravidez/epidemiologia , Estudos Transversais , Parto , Comportamento Alimentar
4.
Nutrients ; 15(6)2023 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-36986263

RESUMO

The optimal method for human milk (HM) fortification has not yet been determined. This study assessed whether fortification relying on measured HM macronutrient content (Miris AB analyzer, Upsala, Sweden) composition is superior to fortification based on assumed HM macronutrient content, to optimize the nutrition support, growth, and body composition in infants born at <33 weeks' gestation. In a mixed-cohort study, 57 infants fed fortified HM based on its measured content were compared with 58 infants fed fortified HM based on its assumed content, for a median of 28 and 23 exposure days, respectively. The ESPGHAN 2010 guidelines for preterm enteral nutrition were followed. Growth assessment was based on body weight, length, and head circumference Δ z-scores, and the respective growth velocities until discharge. Body composition was assessed using air displacement plethysmography. Fortification based on measured HM content provided significantly higher energy, fat, and carbohydrate intakes, although with a lower protein intake in infants weighing ≥ 1 kg and lower protein-to-energy ratio in infants weighing < 1 kg. Infants fed fortified HM based on its measured content were discharged with significantly better weight gain, length, and head growth. These infants had significantly lower adiposity and greater lean mass near term-equivalent age, despite receiving higher in-hospital energy and fat intakes, with a mean fat intake higher than the maximum recommended and a median protein-to-energy ratio intake (in infants weighing < 1 kg) lower than the minimum recommended.


Assuntos
Recém-Nascido Prematuro , Leite Humano , Recém-Nascido , Feminino , Humanos , Lactente , Estudos de Coortes , Fenômenos Fisiológicos da Nutrição do Lactente , Nutrientes , Proteínas , Composição Corporal , Alimentos Fortificados
5.
Am J Perinatol ; 40(2): 163-171, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-33878767

RESUMO

OBJECTIVE: The study aimed to assess the association between intrauterine growth of preterm infants and energy and macronutrient contents in their mothers' milk. STUDY DESIGN: A historical cohort of mothers of preterm infants was assessed according to offspring's intrauterine growth. Fetal growth restriction (FGR) was defined as small-for-gestational age or appropriate for gestational age with fetal growth deceleration. During the first 4 weeks after delivery, the composition of daily pool samples of mothers' milk was measured by using a mid-infrared human milk analyzer. Explanatory models for milk energy, true protein, total carbohydrate, and fat contents were obtained by generalized additive mixed effects regression models. RESULTS: In total, 127 milk samples were analyzed from 73 mothers who delivered 92 neonates. Energy content was significantly higher in mothers with chronic hypertension (average: +6.28 kcal/dL; 95% confidence interval [CI]: 0.54-12.01; p = 0.034) and for extremely preterm compared with very preterm infants (average: +5.95 kcal/dL; 95% CI: 2.16-9.73; p = 0.003), and weakly associated with single pregnancies (average: +3.38 kcal/dL; 95% CI: 0.07-6.83; p = 0.057). True protein content was significantly higher in mothers with chronic hypertension (average: +0.91 g/dL; 95% CI: 0.63-1.19; p < 0.001) and with hypertension induced by pregnancy (average: +0.25 g/dL, 95% CI: 0.07-0.44; p = 0.007), and for extremely preterm compared with very and moderate preterm infants (average: +0.19; 95% CI: 0.01-0.38; p = 0.043 and +0.28 g/dL; 95% CI: 0.05-0.51; p = 0.017, respectively). Fat content was weakly and negatively associated with FGR, both in SGA infants and AGA infants with fetal growth deceleration (average: -0.44 g/dL; 95% CI: -0.92 to -0.05; p = 0.079 and average: -0.36 g/dL; 95% CI: -0.74 to -0.02; p = 0.066, respectively). CONCLUSION: Energy and macronutrient contents in mothers' milk of preterm infants was significantly and positively associated with the degree of prematurity and hypertension. The hypothesis that the composition of milk is associated with FGR was not demonstrated. KEY POINTS: · Energy and protein are higher for more immature infants.. · Energy and/or protein is higher in hypertension.. · Fat may be lower for infants with intrauterine growth restriction..


Assuntos
Recém-Nascido Prematuro , Leite Humano , Lactente , Feminino , Gravidez , Recém-Nascido , Humanos , Estudos de Coortes , Mães , Idade Gestacional , Retardo do Crescimento Fetal/metabolismo
6.
Nutrients ; 13(5)2021 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-34066473

RESUMO

The FEEDMI Study (NCT03663556) evaluated the influence of infant feeding (mother's own milk (MOM), donor human milk (DHM) and formula) on the fecal microbiota composition and alkaline phosphatase (ALP) activity in extremely and very preterm infants (≤32 gestational weeks). In this observational study, preterm infants were recruited within the first 24 h after birth. Meconium and fecal samples were collected at four time points (between the 2nd and the 26th postnatal days. Fecal microbiota was analyzed by RT-PCR and by 16S rRNA sequencing. Fecal ALP activity, a proposed specific biomarker of necrotizing enterocolitis (NEC), was evaluated by spectrophotometry at the 26th postnatal day. A total of 389 fecal samples were analyzed from 117 very preterm neonates. Human milk was positively associated with beneficial bacteria, such as Bifidobacterium, Bacteroides ovatus, and Akkermancia muciniphila, as well as bacterial richness. Neonates fed with human milk during the first week of life had increased Bifidobacterium content and fecal ALP activity on the 26th postnatal day. These findings point out the importance of MOM and DHM in the establishment of fecal microbiota on neonates prematurely delivered. Moreover, these results suggest an ALP pathway by which human milk may protect against NEC.


Assuntos
Fosfatase Alcalina/metabolismo , Microbioma Gastrointestinal/fisiologia , Fenômenos Fisiológicos da Nutrição do Lactente/fisiologia , Lactente Extremamente Prematuro/fisiologia , Leite Humano/microbiologia , Fezes/microbiologia , Feminino , Idade Gestacional , Humanos , Fórmulas Infantis/microbiologia , Recém-Nascido , Estudos Longitudinais , Masculino , RNA Ribossômico 16S/análise
7.
Artigo em Inglês | MEDLINE | ID: mdl-33477964

RESUMO

Adequate nutrition of very preterm infants comprises fortification of human milk (HM), which helps to improve their nutrition and health. Standard HM fortification involves a fixed dose of a multi-nutrient HM fortifier, regardless of the composition of HM. This fortification method requires regular measurements of HM composition and has been suggested to be a more accurate fortification method. This observational study protocol is designed to assess whether the target HM fortification method (contemporary cohort) improves the energy and macronutrient intakes and the quality of growth of very preterm infants, compared with the previously used standard HM fortification (historical cohorts). In the contemporary cohort, a HM multi-nutrient fortifier and modular supplements of protein and fat are used for HM fortification, and the enteral nutrition recommendations of the European Society for Paediatric Gastroenterology Hepatology and Nutrition for preterm infants will be considered. For both cohorts, the composition of HM is assessed using the Miris Human Milk analyzer (Uppsala, Sweden). The quality of growth will be assessed by in-hospital weight, length, and head circumference growth velocities and a single measurement of adiposity (fat mass percentage and fat mass index) performed just after discharge, using the air displacement plethysmography method (Pea Pod, Cosmed, Italy). ClinicalTrials.gov registration number: NCT04400396.


Assuntos
Recém-Nascido Prematuro , Leite Humano , Criança , Estudos de Coortes , Alimentos Fortificados , Humanos , Lactente , Recém-Nascido , Itália , Estudos Observacionais como Assunto , Suécia
8.
Gut Microbes ; 12(1): 1785804, 2020 11 09.
Artigo em Inglês | MEDLINE | ID: mdl-32658601

RESUMO

Growing evidence suggests that maternal microbiota can influence the neonates' gut colonization. However, the mechanisms of vertical bacterial transmission remain poorly defined. We believed that the first colonizers of the newborn come from the mother's gut and vagina during pregnancy and that this is independent of the mode of delivery. We conducted an observational longitudinal study to evaluate the link between the maternal gut microbiota and the meconium's microbiota in extremely and very preterm neonates. Bacterial DNA was extracted from samples and specific bacterial groups were quantified by RT-PCR. In this cohort of 117 preterm neonates, we detected bacterial DNA in 88% of meconium samples. Meconium microbiota of neonates born after 28 gestational weeks (very preterm neonates) showed stronger correlations with their mothers' fecal microbiota. However, neonates born before 28 gestational weeks (extremely preterm neonates) had more Lactobacillus - genus that dominated the vaginal microbiota - than very preterm neonates, regardless of the mode of delivery. Collectively, these data support the hypothesis that maternal bacteria from the gut and vagina can play a role in shaping neonates' gut microbiota and that mother-to-infant bacterial transmission is a controlled and time-specific process. ClinicalTrials.gov Identifier: NCT03663556.


Assuntos
Lactente Extremamente Prematuro , Lactobacillus/isolamento & purificação , Mecônio/microbiologia , Mães , Bactérias/classificação , Bactérias/isolamento & purificação , Parto Obstétrico , Fezes/microbiologia , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Estudos Longitudinais , Masculino , Microbiota
9.
Hum Genet ; 139(4): 531-543, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32030560

RESUMO

We present a comprehensive clinically oriented workflow for large-insert genome sequencing (liGS)-based nucleotide level resolution and interpretation of de novo (dn) apparently balanced chromosomal abnormalities (BCA) in prenatal diagnosis (PND). Retrospective or concomitant with conventional PND and liGS, molecular and newly developed clinically inspired bioinformatic tools (TAD-GConTool and CNV-ConTool) are applied to analyze and assess the functional and phenotypic outcome of dn structural variants (dnSVs). Retrospective analysis of four phenotype-associated dnSVs identified during conventional PND precisely reveal the genomic elements disrupted by the translocation breakpoints. Identification of autosomal dominant disease due to the disruption of ANKS1B and WDR26 by t(12;17)(q23.1;q21.33)dn and t(1;3)(q24.11;p25.3)dn breakpoints, respectively, substantiated the proposed workflow. We then applied this workflow to two ongoing prenatal cases with apparently balanced dnBCAs: 46,XX,t(16;17)(q24;q21.3)dn referred for increased risk on combined first trimester screening and 46,XY,t(2;19)(p13;q13.1)dn referred due to a previous trisomy 21 pregnancy. Translocation breakpoints in the t(16;17) involve ANKRD11 and WNT3 and disruption of ANKRD11 resulted in KBG syndrome confirmed in postnatal follow-up. Breakpoints in the t(2;19) are within ATP6V1B1 and the 3' UTR of CEP89, and are not interpreted to cause disease. Genotype-phenotype correlation confirms the causative role of WDR26 in the Skraban-Deardorff and 1q41q42 microdeletion phenocopy syndromes, and that disruption of ANKS1B causes ANKS1B haploinsufficiency syndrome. In sum, we show that an liGS-based approach can be realized in PND care providing additional information concerning clinical outcomes of dnBCAs in patients with such rearrangements.


Assuntos
Anormalidades Múltiplas , Doenças do Desenvolvimento Ósseo , Transtornos Cromossômicos , Cromossomos Humanos/genética , Fácies , Genes Dominantes , Deficiência Intelectual , Diagnóstico Pré-Natal , Anormalidades Dentárias , Translocação Genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Adolescente , Adulto , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/genética , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Masculino , Gravidez , Anormalidades Dentárias/diagnóstico , Anormalidades Dentárias/genética , Fluxo de Trabalho
10.
Einstein (Sao Paulo) ; 17(3): eAO4607, 2019 Jun 13.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31215590

RESUMO

OBJECTIVE: To determine associations between sex and neurodevelopmental outcomes in human milk-fed very preterm infants, adjusted to early measured nutrient intakes and other neonatal cofactors. METHODS: Consecutive inborn human milk-fed infants, with gestational age <33 weeks, were eligible. In-hospital energy and protein intakes have relied on measured human milk composition. The Bayley Scales of Infant Development II mental and psychomotor developmental indexes were used to assess neurodevelopment at 20 months' corrected age. After univariate analysis, some covariables were used for linear multiple regression. RESULTS: Thirty-two infants were included, with a mean (standard deviation) gestational age of 29.8 (1.8) weeks, and a median birth weight of 1168g (interquartile range 990-1419g). Minimum recommended intakes were achieved in 63.6% and 15.2% of infants for protein and energy, respectively. The mental and psychomotor developmental indexes were within normal limits in 93.8% of infants. The mean mental and psychomotor developmental indexes were significantly lower in males. Only male sex negatively and significantly affected the mental and psychomotor developmental indexes (B=-9.44; 95%CI: -17.64- -1.23; adjusted r2=0.17; p=0.026), adjusted to gestational age and measured energy intake. CONCLUSION: In human milk-fed very preterm infants, males had a significantly lower mental and psychomotor developmental indexes score at 20 months' corrected age, adjusted for gestational age and measured energy intake.


Assuntos
Doenças do Prematuro/etiologia , Recém-Nascido Prematuro , Leite Humano , Transtornos do Neurodesenvolvimento/etiologia , Fatores Etários , Peso ao Nascer/fisiologia , Estudos de Coortes , Ingestão de Energia/fisiologia , Feminino , Idade Gestacional , Humanos , Doenças do Prematuro/fisiopatologia , Masculino , Transtornos do Neurodesenvolvimento/fisiopatologia , Testes Neuropsicológicos , Desempenho Psicomotor/fisiologia , Fatores de Risco , Fatores Sexuais , Estatísticas não Paramétricas , Fatores de Tempo
11.
Neonatology ; 116(2): 179-184, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31132782

RESUMO

BACKGROUND: Preterm infants are especially vulnerable to gut microbiota disruption and dysbiosis since their early gut microbiota is less abundant and diverse. Several factors may influence infants' gut microbiota, such as the mother's diet, mode of delivery, antibiotic exposure, and type of feeding. OBJECTIVES: This study aims to examine the factors associated with very-preterm neonate's intestinal microbiota, namely: (1) type of infant-feeding (breast milk, donor human milk with or without bovine protein-based fortifier, and preterm formula); (2) maternal diet; and (3) mode of delivery. METHODS: This is an observational study conducted in a cohort of very preterm infants hospitalized in the neonatal intensive care unit of Maternidade Dr. Alfredo da Costa. After delivery, the mothers are asked to collect their own fecal samples and are invited to complete a semiquantitative food frequency questionnaire. The maternal diet will be classified in accordance to the Mediterranean Diet adherence score. Stool samples have been collected from very premature infants every 7 days for 21 days. DNA has been extracted from the fecal samples, and different bacterial genus and species will be quantified by real-time polymerase chain reaction. RESULTS AND CONCLUSIONS: It is hypothesized that significant differences in the microbiota composition and clinical outcomes of very preterm infants will be observed depending on the type of infant feeding. In addition, this study will clarify how pasteurized donor's milk influences the intestinal microbiota colonization of preterm infants. This is a pioneer study developed in collaboration with the country's Human Milk Bank. We also expect to find microbiota alterations in infants according to the mode of delivery and to maternal diet. This study will contribute to increase the evidence on the effects of breast or donor human milk and its fortification with a bovine protein-based fortifier on infant microbiota.


Assuntos
Comportamento Alimentar , Microbioma Gastrointestinal , Fórmulas Infantis , Recém-Nascido Prematuro , Leite Humano , Ensaios Clínicos como Assunto , Parto Obstétrico , Dieta , Fezes/microbiologia , Feminino , Humanos , Fenômenos Fisiológicos da Nutrição do Lactente , Lactente Extremamente Prematuro , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Estudos Longitudinais , Fenômenos Fisiológicos da Nutrição Materna , Estudos Observacionais como Assunto , Inquéritos e Questionários
12.
Arch Physiol Biochem ; 125(1): 85-91, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29431478

RESUMO

This study investigate the effects of high-intensity interval training (HIIT) on systemic levels of inflammatory and hormonal markers in postmenopausal women with metabolic syndrome (MS). Fifteen postmenopausal women with MS completed the training on treadmills. Functional, body composition parameters, maximal oxygen uptake (VO2max), and lipid profile were assessed before and after HIIT. Serum or plasma levels of cytokines and hormonal markers were measured along the intervention. The analysis of messenger RNA (mRNA) expression of these cytokines was performed in peripheral blood mononuclear cells (PBMC). VO2max and some anthropometric parameters were improved after HIIT, while decreased levels of proinflammatory markers and increased levels of interleukin-10 (IL-10) were also found. Adipokines were also modulated after 12 weeks or training. The mRNA expression of the studied genes was unchanged after HIIT. In conclusion, HIIT benefits inflammatory and hormonal axis on serum or plasma samples, without changes on PBMC of postmenopausal MS patients.


Assuntos
Adipocinas/metabolismo , Treinamento Intervalado de Alta Intensidade , Síndrome Metabólica/metabolismo , Pós-Menopausa , Adipocinas/sangue , Biomarcadores/metabolismo , Composição Corporal , Feminino , Regulação da Expressão Gênica , Hormônios/metabolismo , Humanos , Leucócitos Mononucleares/metabolismo , Síndrome Metabólica/sangue , Síndrome Metabólica/fisiopatologia , Pessoa de Meia-Idade
13.
Congenit Anom (Kyoto) ; 59(5): 174-178, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30225942

RESUMO

Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1880 kb microdeletion at 6p25.3 identified by whole-genome array analysis, and was mainly attributable to a FOXC1 haploinsufficiency. Currently 37 patients with r(6) have been reported. We found that facial dysmorphism, ASD, heart anomalies, brain anomalies, and hearing loss are constant features only in severe cases of r(6), mainly related to hemizygosity of FOXC1. Thus, overlaps with other FOXC1 related phenotypes, such as the 6p25 deletion syndrome, Axenfeld-Rieger syndrome type 3, and ASD type 3. Contrarily, those patients whose r(6) does not disrupt FOXC1, have mild or moderate phenotypes and do not exhibit ASD.


Assuntos
Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Fatores de Transcrição Forkhead/genética , Deleção de Genes , Fenótipo , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 6/genética , Feminino , Humanos , Recém-Nascido , Cariótipo , Masculino , Cromossomos em Anel , Adulto Jovem
14.
Einstein (Säo Paulo) ; 17(3): eAO4607, 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1011998

RESUMO

ABSTRACT Objective: To determine associations between sex and neurodevelopmental outcomes in human milk-fed very preterm infants, adjusted to early measured nutrient intakes and other neonatal cofactors. Methods: Consecutive inborn human milk-fed infants, with gestational age <33 weeks, were eligible. In-hospital energy and protein intakes have relied on measured human milk composition. The Bayley Scales of Infant Development II mental and psychomotor developmental indexes were used to assess neurodevelopment at 20 months' corrected age. After univariate analysis, some covariables were used for linear multiple regression. Results: Thirty-two infants were included, with a mean (standard deviation) gestational age of 29.8 (1.8) weeks, and a median birth weight of 1168g (interquartile range 990-1419g). Minimum recommended intakes were achieved in 63.6% and 15.2% of infants for protein and energy, respectively. The mental and psychomotor developmental indexes were within normal limits in 93.8% of infants. The mean mental and psychomotor developmental indexes were significantly lower in males. Only male sex negatively and significantly affected the mental and psychomotor developmental indexes (B=-9.44; 95%CI: -17.64- -1.23; adjusted r2=0.17; p=0.026), adjusted to gestational age and measured energy intake. Conclusion: In human milk-fed very preterm infants, males had a significantly lower mental and psychomotor developmental indexes score at 20 months' corrected age, adjusted for gestational age and measured energy intake.


RESUMO Objetivo: Determinar a associação entre sexo e desfechos relativos ao neurodesenvolvimento em lactentes muito prematuros e alimentados com leite humano, ajustada para a ingestão de nutrientes medida nos primeiros dias de vida e outros cofatores neonatais. Métodos: Consideramos, para este estudo, lactentes alimentados com leite humano, consecutivamente nascidos em um centro especializado, com idade gestacional <33 semanas. A ingestão intra-hospitalar de energia e proteínas baseou-se na composição medida do leite humano. Os índices de desenvolvimento mental e psicomotor das Bayley Scales of Infant Development II foram usados para avaliar o neurodesenvolvimento na idade corrigida de 20 meses. Após a análise univariada, algumas covariáveis foram usadas para a regressão múltipla linear. Resultados: Incluímos 32 lactentes, com idade gestacional média (desvio padrão) de 29,8 (1,8) semanas e mediana de peso ao nascimento de 1168g (intervalo interquartil: 990-1419g). A ingestão mínima recomendada foi atingida em 63,6% e 15,2% dos lactentes, para proteínas e energia, respectivamente. Os índices de desenvolvimento mental e psicomotor ficaram dentro dos limites normais em 93,8% dos lactentes. A pontuação média nos índices de desenvolvimento mental e psicomotor foi significativamente menor no bebês do sexo masculino. Somente o sexo masculino afetou negativa e significativamente os índices de desenvolvimento mental e psicomotor (B=-9,44; IC95%: -17,64- -1,23; r2 ajustado=0,17; p=0,026), ajustados para idade gestacional e ingestão de energia medida. Conclusão: Em lactentes muito prematuros e alimentados com leite humano, o sexo masculino teve pontuação significativamente mais baixa nos índices de desenvolvimento mental e psicomotor na idade corrigida de 20 meses, ajustada para idade gestacional e ingestão de energia medida.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido Prematuro , Transtornos do Neurodesenvolvimento/etiologia , Doenças do Prematuro/etiologia , Leite Humano , Desempenho Psicomotor/fisiologia , Fatores de Tempo , Peso ao Nascer/fisiologia , Ingestão de Energia/fisiologia , Fatores Sexuais , Fatores de Risco , Estudos de Coortes , Fatores Etários , Idade Gestacional , Estatísticas não Paramétricas , Transtornos do Neurodesenvolvimento/fisiopatologia , Doenças do Prematuro/fisiopatologia , Testes Neuropsicológicos
15.
Artigo em Inglês | MEDLINE | ID: mdl-30237896

RESUMO

BACKGROUND: To achieve recommended nutrient intakes in preterm infants, the target fortification method of human milk (HM) was proposed as an alternative to standard fortification method. We aimed to compare assumed energy and macronutrient intakes based on standard fortified HM with actual intakes relying on measured composition of human milk (HM), in a cohort of HM-fed very preterm infants. METHODS: This study is a secondary retrospective analysis, in which assumed energy and macronutrient contents of daily pools of own mother's milk (OMM) from 33 mothers and donated HM (DHM) delivered to infants were compared with the measured values using a mid-infrared HM analyzer. A fortification method consisting of modular protein and/or fat supplements added to standard fortified HM was used to provide the minimum recommended daily intakes of energy 110 Kcal/kg and protein up to 4.0 g/kg. Assumed nutrient intakes were compared with actual nutrient intakes from full enteral feeding to 35 weeks plus 6 days postmenstrual age, using the Wilcoxon matched-pairs signed ranks test. RESULTS: The composition of 1181 samples of daily pools of HM were measured. For 90.2% of study days, infants were exclusively fed OMM and in remaining days fed OMM plus DHM. Comparing with reported preterm OMM composition, measured protein concentration was significantly lower, and energy and other macronutrient concentrations were lower only from the second to third postnatal week. Using fortified HM, the actual median daily intakes of energy, protein, and fat were significantly lower (113.3 vs. 120.7 Kcal/kg, 4.45 vs. 4.73 g/kg, and 4.96 vs. 5.35 g/kg, respectively) and the actual protein-to-energy ratio (PER) significantly higher than what was assumed (4.2 vs. 4.0), without differences in carbohydrate intake. CONCLUSIONS: When fortifying the HM, we used conservative target intakes trying not to exceed the osmolarity recommended for infant feeds. Actual energy, protein and fat intakes in OMM were significantly lower than assumed. This resulted in inadequate intake using our fortification method, that did not compensate the suboptimal measured energy and macronutrient contents of OMM delivered. Further studies comparing assumed with the gold standard target fortification are needed to determine safe upper limits of assumed fortification.

16.
Am J Perinatol ; 35(9): 882-891, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29532450

RESUMO

OBJECTIVE: To determine the associations of measured protein, energy, and protein-to-energy (PER) intakes with body composition in human milk (HM)-fed preterm infants. STUDY DESIGN: Neonates born at < 33 gestational weeks were eligible. Standard fortification method with modular supplements was used and the HM composition was measured. The weight gain velocity was calculated, and body composition was assessed by air displacement plethysmography at 40 weeks' postmenstrual age (PMA). The fat mass percentage and fat mass index were used as indicators of adiposity, with convenience cut-offs ≤ -1 and ≥ + 1 z-scores for low and high adiposity, respectively. RESULTS: Thirty-three infants were included (median [interquartile range] gestational age: 30 [28-31] weeks; birth weight: 1.175 [1.010-1.408] g); 36.4 and 84.8% did not receive the minimum recommended protein and energy intakes, respectively. Weight gain velocity showed positive weak-to-moderate correlations with nutrient intakes. Overall, no correlations between nutrient intakes and body composition were found. Infants with lower adiposity received lower energy, protein, and PER intakes, while those with higher adiposity received lower energy intake but higher PER intake. CONCLUSION: Overall, no correlations of nutrient intakes with body composition were found; however, differences in nutrient intakes were found between infants with lower and higher adiposity at term PMA.


Assuntos
Adiposidade , Proteínas Alimentares/administração & dosagem , Ingestão de Energia , Alimentos Fortificados , Recém-Nascido de muito Baixo Peso/crescimento & desenvolvimento , Leite Humano , Aumento de Peso , Adulto , Peso ao Nascer , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Lactente , Fenômenos Fisiológicos da Nutrição do Lactente , Recém-Nascido , Recém-Nascido Prematuro/crescimento & desenvolvimento , Masculino
17.
Arch. med. deporte ; 34(182): 315-320, nov.-dic. 2017. tab, graf
Artigo em Inglês | IBECS | ID: ibc-172617

RESUMO

Background and aims: A close link between metabolic syndrome (MS), insulin resistance, chronic low-grade inflammation and cardiovascular diseases has been highlighted in the literature. However, resistance training (RT) has shown interesting results on inflammatory mediators, adipokines, and insulin-related parameters in this population, although results are still contradictory. This study aimed to investigate the effects of hypertrophy RT on glycaemic, cytokines and adipokines levels in men with MS risk factors. Methods: Twenty-one untrained men (57.8 +/- 7.74 years old) underwent a RT for 15 weeks (3 times per week), comprised of nine exercises performed predominantly in the hypertrophy zone. Blood samples were drawn for analysis of glycaemic, inflammatory and hormonal parameters. Subjects were encouraged to maintain their habitual dietary intake during the intervention and dual-energy X-ray absorptiometry was used to assess body composition. Results: Levels of interleukin-1 beta (IL-1beta), interleukin-6 (IL-6), interleukin-18 (IL-18), tumor necrosis factor alpha (TNF-alfa), interferon-gamma (IFN-gama), resistin, ghrelin and leptin decreased, while interleukin-10 (IL-10) and adiponectin concentrations increased after RT. Moreover, the intervention improved glycaemic and insulinemic parameters, besides body composition. Body mass, abdominal and waist circumferences, besides total cholesterol and triglycerides levels remained unaltered. Conclusion: Positive modulation of glycaemic, insulinemic and inflammatory parameters are found in men with MS risk factors after 15 weeks of hypertrophy resistance training, parallel with improvements on body composition and independent of weight loss. Strategies to reduce pre-competition body weight in mixed martial arts


Antecedentes y objetivos: Se ha destacado en la literatura un estrecho vínculo entre el síndrome metabólico (SM), la resistencia a la insulina, la inflamación crónica de bajo grado y las enfermedades cardiovasculares. Además de varios beneficios, el entrenamiento de resistencia (ER) ha producido resultados contradictorios en citoquinas, citoquinas derivadas de tejido adiposo y niveles de parámetros relacionados con la insulina. Este estudio tuvo como objetivo investigar los efectos del ER de hipertrofia como una sola intervención en los niveles de glucemia, citoquinas y adipoquinas en hombres con factores de riesgo de SM. Métodos: Veintiún hombres sedentarios (57,8 +/- 7,74 años) se sometieron a ER durante 15 semanas (3 veces por semana), compuesto de nueve ejercicios realizados predominantemente en la zona de hipertrofia. Se tomaron muestras de sangre para el análisis de parámetros glucémicos, inflamatorios y hormonales. Los sujetos fueron alentados a mantener su ingesta dietética habitual durante la intervención y se utilizó la absorciometria de rayos X de energía dual para evaluar la composición corporal. Resultados: Los niveles de interleucina-1 beta (IL-1beta), interleucina-6 (IL-6), interleucina-18 (IL-18), necrosis tumoral alfa (TNF-alfa), interferón gamma (IFN-gama), resistina, grelina y leptina disminuyeron, mientras que las concentraciones de interleucina-10 (IL-10) y adiponectina aumentaron después del ER. También, la intervención mejoro los parámetros glicemico e insulinemico, además de la composición corporal. La masa corporal, la circunferencia abdominal y la cintura, además del colesterol total y los triglicéridos permanecieron inalterados. Conclusión: La modulación significativa y positiva en los parámetros sistémicos glicémicos, insulinemicos e inflamatorios ha sido encontrada en los hombres con factores de riesgo de SM después de 15 semanas de entrenamiento de resistencia a la hipertrofia, paralelamente con mejoras en la composición corporal e independiente de la pérdida de peso


Assuntos
Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Idoso , Síndrome Metabólica/fisiopatologia , Doenças Cardiovasculares/fisiopatologia , Inflamação/fisiopatologia , Treinamento Resistido/métodos , Fatores de Risco , Força Muscular/fisiologia , Diabetes Mellitus/fisiopatologia , Terapia por Exercício/estatística & dados numéricos , Resultado do Tratamento , Pesos e Medidas Corporais/estatística & dados numéricos
18.
J Parasit Dis ; 41(4): 976-980, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29114129

RESUMO

The cat lungworm Aelurostrongylus abstrusus is the most common respiratory parasite of cats. This nematode has a worldwide distribution and is considered an emerging pathogen. Respiratory signs overlap with those of other pathologies, and some agents which co-exist in the same animal may concur in the clinical scenario. Nonetheless, feline verminous bronchopneumonia is underestimated by practitioners and is not commonly included in differential diagnosis in routine practice. The present report describes the clinical presentation of a 6-month old stray cat from central Portugal, which developed respiratory distress. A clinical improvement of lower respiratory signs was achieved after a course of doxycycline and prednisolone course. However, a relapse with a progressive decline in the respiratory functions occurred two weeks later. A further investigation led to the identification of an A. abstrusus infection that was treated with fenbendazole. Ten days after the treatment the cat became negative for A. abstrusus and further analyses performed in the followings 2 months showed improvement of the animal's pulmonary condition and negative results at the faecal examinations. These findings indicate that veterinarians should include aelurostrongylosis in the differential diagnosis of feline respiratory distress even in non-endemic regions and should perform appropriate diagnostics procedures in the presence of compatible signs.

19.
Sports Med Open ; 1(1): 19, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26284160

RESUMO

BACKGROUND: Evidences have been highlighted the relationship among metabolic syndrome, chronic low-grade inflammation, oxidative stress and several diseases. In this sense, the aim of this study was to investigate the effects of aerobic exercise training on oxidative stress and inflammatory parameters on women with metabolic syndrome (MS). METHODS: Twenty-three untrained women (51.86 ± 6.58 years old, BMI 30.8 ± 4.3 kg/m2) completed a 12-week treadmill exercise training, without modifications on dietary pattern. Advanced oxidation protein products (AOPP), thiobarbituric acid-reactive substances (TBARS), total thiol content (T-SH) and nitrite and nitrate (NOx) levels were assessed in plasma while the levels of interleukin-1 beta (IL-1ß), interleukin-6 (IL-6), interleukin-10 (IL-10), tumor necrosis factor alpha (TNF-α) and interferon-gamma (IFN-γ) were evaluated in the serum. The RNA expression (mRNA) of IL-1ß, IL-10, TNF-α, IFN-γ, insulin receptor substrate 2 (IRS-2) and matrix metalloproteinase-9 (MMP-9) were performed inperipheral blood mononuclear cells (PBMC) of a subset with eight women with MS using real real-time polymerase chain reaction (qPCR). RESULTS: The intervention resulted in decreased serum levels of IL-1ß, IL-6, TNF-α, IFN-γ, AOPP and TBARS, besides increased levels of IL-10 and T-SH (P < 0.001). NOx concentrations were unchanged, similarly to mRNA expressions quantified in PBMC. CONCLUSIONS: Twelve weeks of AT improved systemic oxidative stress and inflammatory biomarkers in women with MS, although PBMC mRNA expression for inflammatory pathways appeared to be unchanged. This may indicate that AT induced beneficial effects not only in physical fitness but also on health promotion through decreased oxidative damage and proinflammatory status.

20.
Acta Med Port ; 28(1): 29-34, 2015.
Artigo em Português | MEDLINE | ID: mdl-25817495

RESUMO

INTRODUCTION: In 2011, a new screening test for gestational diabetes was introduced which allowed an earlier and larger diagnosis with the goal of reducing maternal and perinatal complications. The aim of our study was to evaluate the prevalence of gestational diabetes, compare maternal and perinatal outcomes with the previous and present screening tests and analyze postpartum screening results. MATERIAL AND METHODS: Retrospective study of women with singletons and gestational diabetes diagnosed during 2009 (n = 223) and 2012 (n = 237), at Maternidade Dr. Alfredo da Costa, Portugal. Analysis of clinical charts and assessment of demographic data, medical and obstetric history, weight gain during pregnancy, gestational age at diagnosis, treatment regimens, neonatal outcomes and postpartum screening results, followed by comparison of these variables between the years of 2009 and 2012. RESULTS: In 2012, there was an increased gestational diabetes prevalence, lower weight gain during pregnancy (p < 0.001), more frequent use of pharmacological therapy (p < 0.001) and more diagnosed cases during first and second trimester (p < 0.001). As for neonatal outcomes, in this group, the medium weight at birth was significantly lower (p = 0.001) with a decrease of newborns great for gestational age (p = 0.002). Postpartum screening rate was similar among both groups but in 2012 there was an increase of normal results and a decrease of impaired fasting glucose. DISCUSSION: Tighter criteria of the current screening test resulted in reduction of the majority of gestational diabetes complications but raised new questions. CONCLUSION: The introduction of the current screening test resulted in an increased prevalence, earlier diagnosis and reduction of macrosomia.


Introdução: Em 2011, foi introduzido um novo rastreio para a diabetes gestacional que permitiu um diagnóstico mais precoce e de maior número de casos com o intuito de reduzir complicações maternas e perinatais. O objectivo deste estudo foi avaliar a prevalência da diabetes gestacional, comparar resultados obstétricos e perinatais do anterior e presente rastreio e os resultados e realização da prova de reclassificação pós-parto. Material e Métodos: Estudo retrospectivo em gestações simples e diabetes gestacional diagnosticados em 2009 (n = 223) e 2012 (n = 237), vigiadas na Maternidade Dr. Alfredo da Costa, Portugal. Após consulta de processos clínicos procedeu-se à análise de características demográficas, história médica e obstétrica, aumento ponderal durante a gravidez, idade gestacional do diagnóstico, terapêutica utilizada, resultados perinatais e reclassificação pós-parto, seguida de comparação destas variáveis entre os anos de 2009 e 2012. Resultados: Em 2012, houve maior prevalência de diabetes gestacional, ganho ponderal inferior (p < 0,001), maior recurso à terapêutica farmacológica (p < 0,001) e aumento dos casos diagnosticados no primeiro e segundo trimestres (p < 0,001). Relativamente aos resultados neonatais, o peso médio do recém-nascido ao nascer foi significativamente menor (p = 0,001) com diminuição dos recém-nascidos grandes para a idade gestacional (p = 0,002). A taxa de reclassificação pós-parto foi semelhante nos dois anos mas em 2012 houve um aumento dos resultados normais e diminuição das anomalias da glicémia em jejum. Discussão: Critérios mais apertados do actual rastreio permitiram a redução da maioria das complicações da diabetes gestacional levantando novas questões. Conclusão: A introdução do actual rastreio resultou num aumento de prevalência, diagnóstico mais precoce e redução da macrossomia.


Assuntos
Diabetes Gestacional/diagnóstico , Adulto , Testes Diagnósticos de Rotina , Feminino , Humanos , Programas de Rastreamento , Gravidez , Estudos Retrospectivos
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