Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 17 de 17
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
País de afiliação
Intervalo de ano de publicação
1.
BMC Pediatr ; 24(1): 127, 2024 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-38365643

RESUMO

BACKGROUND: Diet may contribute to better asthma control in children by impacting the immune and inflammatory pathophysiology. Therefore, this study aimed to investigate differences in nutrient intake, Children's Dietary Inflammatory Index (C-DII), and dietary quality according to asthma severity. MATERIALS AND METHODS: Asthma severity, dietary inflammatory status, and diet quality were assessed in a sample of 202 children with asthma (55.6% males, aged 5-18 years) attending a pediatric allergy outpatient clinic. Asthma severity was evaluated according to the Global Initiative for Asthma criteria and categorized as mild, moderate, or severe. The Children's Dietary Inflammatory Index (C-DII) and Healthy Eating Index (HEI-2010) were calculated based on information collected by the 24-h dietary recall method. Dietary quality was categorized as poor, moderate, or good diet according to HEI-2010. RESULTS: The mean age of the participants was 9.6 ± 3.2 years. Children with severe asthma were younger on average (p < 0.05). Children with mild asthma had significantly higher fiber and iron intake than those with moderate asthma (p < 0.05). C-DII values did not differ significantly according to asthma severity (p > 0.05). Dietary quality was evaluated as moderate in 89.1% of the participants and also showed no difference based on asthma severity. CONCLUSIONS: These findings suggest that inflammatory status and diet quality may not affect asthma severity in children, highlighting the influence of various genetic and environmental factors on the association between diet and asthma severity. More comprehensive and longitudinal studies are needed to investigate the mechanisms linking diet and asthma.


Assuntos
Asma , Dieta Saudável , Masculino , Humanos , Criança , Feminino , Dieta , Ingestão de Alimentos , Ingestão de Energia
2.
BMC Med Educ ; 23(1): 562, 2023 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-37559058

RESUMO

BACKGROUND: Healthcare professionals play a key role in the diagnosis, treatment, and follow-up of inborn metabolic diseases. However, the level of inborn metabolic disease knowledge of prospective healthcare professional students in our country has not yet been determined. Therefore, this study aimed to evaluate the level of knowledge of healthcare professional candidate students about inborn metabolic diseases. METHODS: The knowledge levels of 761 students enrolled in the Department of Nutrition and Dietetics, Child Development, Midwifery, Occupational Therapy, Audiology, Health Management and Social Work at Gülhane Faculty of Health Sciences, Health Sciences University, were evaluated through a questionnaire using a face-to-face interview technique. Correct answers to the questions measuring the level of knowledge were scored as "1", and incorrect answers were scored as "0". RESULTS: The mean knowledge-level score of the individuals was 14.23 ± 4.56. A total of 56.0% of individuals had heard about inborn metabolic diseases before, 37.8% had heard of rare disease organizations/platforms before, and 16.8% had encountered an awareness campaign about inborn metabolic diseases. The level of exposure to awareness-raising campaigns, department of education, and grade level were shown to be factors affecting knowledge levels. CONCLUSION: It is necessary to improve the awareness and knowledge levels of health professional candidates involved in the treatment of inborn metabolic diseases. Education curricula in health sciences faculties should be evaluated with this aspect.


Assuntos
Doenças Metabólicas , Estudantes , Criança , Humanos , Estudos Transversais , Estudos Prospectivos , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/terapia , Inquéritos e Questionários , Atenção à Saúde , Conhecimentos, Atitudes e Prática em Saúde
3.
Br J Nutr ; 127(11): 1675-1681, 2022 06 14.
Artigo em Inglês | MEDLINE | ID: mdl-34348809

RESUMO

The nutrient composition of breast milk alters during lactation, and maternal BMI adds more intricacy into its complexity. We aimed to compare leptin, ghrelin, adiponectin and insulin-like growth factor-1 (IGF-1) levels of pre-feed and post-feed breast milk in mothers with obesity and normal weight, and tried to determine their effects on infants' growth over weight for length z-score. Twenty obese and twenty normal weight mothers with 2-month-old infants were enrolled in this case-control study. Five millilitre pre-feed breast milk and 5 ml post-feed breast milk were collected. Breast milk leptin, ghrelin, adiponectin and IGF-1 were measured by commercial kits. The pre-feed breast milk of mothers with obesity had significantly higher levels of ghrelin than mothers with normal weight (P = 0·025), whereas the post-feed breast milk of mothers with normal weight had higher levels of adiponectin than the mothers with obesity (P = 0·010). No significant differences were observed in leptin and IGF-1 levels between the two groups. Post-feed breast milk IGF-1 levels of mothers with obesity were correlated with infant's weight for length z-score at 2 months (r -0·476; P = 0·034). In linear regression models, parity affected the ghrelin in pre-feed breast milk (P = 0·025). Our results revealed that maternal pre-pregnancy BMI was associated with breast milk components.


Assuntos
Leptina , Leite Humano , Lactente , Feminino , Gravidez , Humanos , Adiponectina , Fator de Crescimento Insulin-Like I , Índice de Massa Corporal , Grelina , Estudos de Casos e Controles , Obesidade
4.
J Pediatr Hematol Oncol ; 40(6): e343-e347, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29309374

RESUMO

Adequate nutrient intake should be provided for the cure of children diagnosed with cancer. The aim of this study was to evaluate serum trace elements and vitamins of children with cancer at diagnosis and during treatment. Children with newly diagnosed cancer who were admitted to our center were evaluated for serum selenium, iron, ferritin, C-reactive protein, vitamin B12, folate, and 25-OH vitamin D levels at presentation, and at the third and sixth months of cancer treatment. Forty-two children (male/female: 15/27) with a median age of 8 years (range, 2 to 17) were included in the study. Mean serum B12, folate, and iron levels were within normal ranges, but selenium and 25-OH vitamin D were low at presentation and during the 6-month period. Serum ferritin levels were high in all 3 measures, but they decreased significantly at the sixth month (P=0.04). There was no relation between micronutrient deficiency and sex, or primary disease, or stage, or place of residence of the patient. In conclusion, serum trace element and vitamin deficiencies are common in children with cancer, and there is a need for further studies with larger patient series.


Assuntos
Neoplasias/sangue , Neoplasias/diagnóstico , Selênio/sangue , Oligoelementos/sangue , Vitaminas/sangue , Adolescente , Deficiência de Vitaminas/sangue , Deficiência de Vitaminas/diagnóstico , Proteína C-Reativa/metabolismo , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Selênio/deficiência , Fatores de Tempo
5.
Nutrition ; 118: 112266, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37988926

RESUMO

OBJECTIVES: This study aimed to evaluate the relationship between adherence to the Mediterranean diet, sustainable and healthy eating behaviors, and climate change awareness in adults. METHODS: This descriptive and cross-sectional study was conducted with 1797 adults ages 19-65 y. Demographic characteristics, anthropometric measurements, adherence to the Mediterranean diet, sustainable and healthy eating behaviors, and climate change awareness were ascertained through a questionnaire. RESULTS: The mean age of the individuals was 27.5 ± 11.76 y, and 50.5% of the participants were adherent to the Mediterranean diet. A statistically significant difference was found between individuals who did and did not adhere to the Mediterranean diet in terms of age, income status, total score and subscores on the Sustainable and Healthy Eating Behaviors Scale, and subscores for information on climate change causes (P < 0.05). A statistically significant positive correlation was found between the Mediterranean Diet Adherence Scale (MEDAS) total score, the Sustainable and Healthy Eating Behaviors Scale total score and subscores, and the Climate Change Awareness Scale total score and subscores (P < 0.05). It was determined that sex, education level, and income status affected the Climate Change Awareness Scale total score (P < 0.05). It was determined that age, income status, the Sustainable and Healthy Eating Behaviors Scale total score, and the Climate Change Awareness Scale total score affected the MEDAS total score (P < 0.05). Also, it was determined that age, sex, education level, MEDAS total score, and Climate Change Awareness Scale total score affected the Sustainable and Healthy Eating Behaviors Scale total score (P < 0.05). CONCLUSIONS: This study showed a significant effect of climate change awareness on sustainable and healthy eating behaviors and adherence to the Mediterranean diet.


Assuntos
Dieta Mediterrânea , Adulto , Humanos , Estudos Transversais , Mudança Climática , Turquia , Comportamento Alimentar
6.
Breastfeed Med ; 18(6): 475-482, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37219584

RESUMO

Objectives: This study aimed to evaluate the effect of prepregnancy obesity on fatty acid profile in breast milk, to determine the relationship between maternal diet and fatty acids in breast milk, and to investigate the relationship between fatty acids in breast milk and infant growth. Materials and Methods: Twenty normal-weight mothers, 20 obese mothers, and their infants were recruited. Breast milk samples were collected at 50-70 days postpartum. Breast milk fatty acid was analyzed with gas chromatography. Infant body weight, height, and head circumference were taken from medical records at birth and during study visits at 2 months. Dietary intake was assessed by trained dietitians using a 24-hour dietary recall method. Results: Alpha-linolenic acid (ALA, p = 0.040), docosahexaenoic acid (DHA, p = 0.019), and total n-3 fatty acid (p = 0.045) in total milk were found to be higher in normal-weight mothers compared with obese mothers. A positive association was found between C20:4 n-6 in foremilk and weight for age percentile (r = 0.381, p = 0.031; ß = 29.966, p = 0.047). Conclusions: Prevention of prepregnancy obesity is important for future generations, as prepregnancy obesity has many adverse effects on the mother and infant and may affect the composition of breast milk.


Assuntos
Ácidos Graxos , Leite Humano , Recém-Nascido , Feminino , Gravidez , Lactente , Humanos , Leite Humano/química , Ácidos Graxos/análise , Aleitamento Materno , Obesidade , Dieta , Período Pós-Parto
7.
Eur J Clin Nutr ; 77(7): 705-709, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36352101

RESUMO

Medical nutrition therapy is one of the core components of the patient management, although its implication is still limited in daily practice globally. Clinicians are in need of guidance that will ease the application of medical nutrition therapy. The first treatment choice in medical nutrition therapy is the use of oral nutritional supplements (ONS) after or concomitant with dietary interventions. The pre and post-graduate curriculum for medical nutrition therapy is limited in most regions, worldwide. A report that is short, clear, and having clear-cut recommendations that will guide the primary healthcare professionals in indications, choice, practical application, follow-up, and stopping ONS would facilitate the application and success of medical nutrition therapy. KEPAN is the Clinical Enteral and Parenteral Nutrition Society of Turkey and is an active member of the European Society for Clinical Nutrition and Metabolism (ESPEN). In this study, we present the KEPAN ONS consensus report on optimal ONS use in medical nutrition therapy as outlined by works of academicians experienced in clinical application of ONS (eight working group academicians and 19 expert group academicians). This report provides 22 clear-cut recommendations in a question-answer format. We believe that this report could have a significant impact in the ideal use of ONS in the context of medical nutrition therapy when clinicians manage everyday patients.


Assuntos
Desnutrição , Terapia Nutricional , Humanos , Consenso , Nutrição Enteral , Nutrição Parenteral , Turquia , Suplementos Nutricionais
8.
Clin Nutr ESPEN ; 44: 424-428, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34330500

RESUMO

AIM: The aim of this study was to evaluate the nutritional status, the nutritional effect on the risk of infection and the severity of the disease, and the contribution of nutrition to the course of the infection in pediatric patients diagnosed with coronavirus disease who required additional nutritional support after hospitalization. METHODS: The body weight, height, body mass index, upper arm circumference, and triceps skinfold thickness of 49 patients aged 1 month to 18 years and diagnosed with Covid-19 and then hospitalized at the Ankara City Hospital, Pediatric Health and Diseases Hospital, Pediatric Infection ward between 15 May and 15 June 2020 were measured. Total protein, albumin, prealbumin, selenium, zinc, ferritin, folate, and selenium, C, D, E, and B12 levels were studied from blood drawn simultaneously from the patients. RESULTS: A total of 49 patients aged 8-18 years were evaluated. The median age was 13 years (age range 8-18). The females made up 53% and the males 47% of the group. No patient needed intensive care admission. Only 3 patients received antibiotic treatment and the others were followed up without treatment. The weight was normal in 75% and the height was normal in 90%. Mid-arm circumference and triceps thickness were normal in 72% of the patients. Vitamin D deficiency was present in 82%, vitamin B12 deficiency in 18%, vitamin C deficiency in 17%, ferritin deficiency in 16%, folate deficiency in 15%, vitamin A deficiency in 13%, and vitamin E deficiency in 7%. CONCLUSION: No patient required intensive care admission. Only 3 patients received antibiotic treatment and the others were followed up without treatment. Malnourishment was present in 3% of the patients while 9% were obese. Vitamin D deficiency was the most common vitamin deficiency while vitamin B12, vitamin C, Ferritin, vitamin A, vitamin E, and Folate deficiency were less common. Selenium and zinc levels were normal in all patients. There was no correlation between anthropometric values and susceptibility to childhood COVID-19 infection or the clinical course. It is possible that vitamin D deficiency increases susceptibility to the infection.


Assuntos
COVID-19/sangue , COVID-19/epidemiologia , Desnutrição/sangue , Desnutrição/epidemiologia , Estado Nutricional , Adolescente , Criança , Pré-Escolar , Comorbidade , Feminino , Humanos , Lactente , Masculino , SARS-CoV-2 , Índice de Gravidade de Doença , Turquia/epidemiologia
9.
J Pediatr Endocrinol Metab ; 34(8): 1017-1022, 2021 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-34162028

RESUMO

OBJECTIVES: Hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by a deficiency in aldolase B that can result in hypoglycemia, nausea, vomiting, abdominal pain, liver and kidney dysfunction, coma, and even death. This study aims to represent the clinical features and molecular genetic analysis data of the patients diagnosed with HFI in our study population. METHODS: The medical records of the 26 patients with HFI were evaluated retrospectively. Age, gender, clinical findings, metabolic crises, and the results of molecular analyses were recorded. RESULTS: The patients with HFI had a good prognosis and the aversion to sugar-containing foods was the main complaint. Seven different variants were identified in the Aldolase B (ALDOB) gene in HFI patients. The most frequent mutations were p.Ala150Pro, p.Ala175Asp had a prevalence of 61 and 30%, respectively, in agreement with the literature and other known variants were found with minor frequencies c.360-363del4(3.8%), p.Asn335Lys(3.8%), and three novel mutations c.113-1_15del4 (3.8%), p.Ala338Val(7.6%), and p.Asp156His(3.8%) were identified at a heterozygous, homozygous, or compound heterozygous level. CONCLUSIONS: This study results revealed three novel mutations in patients with HFI. On the basis of age of presentation, clinical symptoms, and metabolic crisis, there was no clear-cut genotype-phenotype correlation. This article also demonstrates the importance of screening suspected infants in cases of acute liver failure for prompt diagnosis and treatment of HFI.


Assuntos
Intolerância à Frutose/epidemiologia , Frutose-Bifosfato Aldolase/genética , Predisposição Genética para Doença , Prontuários Médicos/estatística & dados numéricos , Mutação , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Seguimentos , Intolerância à Frutose/genética , Intolerância à Frutose/patologia , Heterozigoto , Homozigoto , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Turquia/epidemiologia , Adulto Jovem
10.
J Pediatr Endocrinol Metab ; 33(6): 777-784, 2020 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-32447329

RESUMO

Objectives Metabolic syndrome (MS) is a fatal endocrinopathy that begins with insulin resistance (IR) and causes abdominal obesity, glucose intolerance, or systemic disorders. This study was aimed to determine the cut-off values for the triglyceride (TG)/high-density lipoprotein cholesterol (TG/HDL-C) ratio, the TG glucose (TyG) index and homeostasis model assessment (HOMA-IR) for the diagnosis of MS in obese adolescents, and to compare which of the three indexes would offer a more accurate approach to diagnosis. Methods The study population comprised 1,171 obese adolescents (639 females and 532 males aged 10-16 years, Body Mass Index (BMI)>=95th percentile). Indirect measures of IR screening for MS were the TG/HDL ratio, TyG index, and HOMA-IR. The cut-off values of the TG/HDL ratio, TyG index, and HOMA-IR were obtained from receiver operation characteristic (ROC) curves. Results HOMA-IR had a significant positive correlation with the TyG index (r=0.352, p<0.001) and TG/HDL-C (r=0.291, p<.001). The TyG index and TG/HDL-C showed a strong positive correlation (r=0.901, p<0.001). The TG/HDL-C ratio showed a larger ROC Area under Curve (AUC=0.849) than HOMA-IR index (AUC=0.689), but as a predictor similar to TyG index (AUC=0.833) when screening for MS. The cut-off values for MS were as follows: TG/HDL-C ratio>2.16 (sensitivity: 88.8%; specificity: 49.7%), TyG index>8.50 (sensitivity: 85.6%; specificity: 57.0%) and HOMA-IR>2.52 (sensitivity: 83.2%; specificity: 40.4%). Conclusions Both the TyG index and TG/HDL-C ratio are better markers than HOMA-IR to determine the risk of metabolic syndrome according to IDF criteria. Besides, the TyG index and TG/HDL-C ratio have similar differentiating powers to determine this risk in obese Turkish adolescents.


Assuntos
Glicemia/metabolismo , HDL-Colesterol/sangue , Resistência à Insulina , Síndrome Metabólica/diagnóstico , Obesidade Infantil/metabolismo , Triglicerídeos/sangue , Adolescente , Biomarcadores/sangue , Glicemia/análise , Criança , Estudos Transversais , Técnicas de Diagnóstico Endócrino/normas , Feminino , Intolerância à Glucose/diagnóstico , Indicadores Básicos de Saúde , Humanos , Resistência à Insulina/fisiologia , Agências Internacionais/normas , Masculino , Síndrome Metabólica/sangue , Síndrome Metabólica/complicações , Obesidade Infantil/complicações , Obesidade Infantil/diagnóstico , Guias de Prática Clínica como Assunto
11.
Clin Nutr ESPEN ; 27: 79-85, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30144897

RESUMO

BACKGROUND & AIMS: Phenylketonuria (PKU) has a very high prevalence throughout the world. Nowadays, number of studies about impact of this metabolic disease on patients increasing. The aim of our study is to examine PKU patients' quality of life according to PKU-QOL questionnaires. METHODS: Patients (n = 63) diagnosed with PKU were included this study; child (9-11 years (n = 20)), adolescent (12-15 years (n = 22)) and adult (18-35 years (n = 21)). PKU-QOL questionnaires (include 4 modules) developed for PKU patients were used. In accordance with purpose, data were analysed by nonparametric tests (Kruskal Wallis One-Way Analysis of Variance Test and Mann-Whitney U Test), according to results of normality tests. RESULTS: Most of the individuals were female (65,1%) and mean age was 15,7 ± 6,4 years. Symptoms; there were statistically significant differences in all domains excluding tiredness. Especially, median score of slow thinking was very frequent symptom in children as 100,0. PKU in general; there were found that median scores were higher in children. Phe-free amino acid supplement administration: as the age increased, scores were lower. Dietary protein restriction: Overall difficulty following dietary protein restriction and Food enjoyment were found similar in groups (p > 0,05). CONCLUSIONS: It was concluded that PKU affects younger people more negatively.


Assuntos
Dieta/estatística & dados numéricos , Cooperação do Paciente/estatística & dados numéricos , Fenilcetonúrias/fisiopatologia , Fenilcetonúrias/psicologia , Qualidade de Vida , Inquéritos e Questionários , Adolescente , Adulto , Criança , Dieta/psicologia , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Cooperação do Paciente/psicologia , Prevalência , Psicometria , Pesquisa Qualitativa
12.
Exp Clin Transplant ; 15(4): 458-462, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27765005

RESUMO

OBJECTIVES: The aim of this study was to evaluate nutritional status in children who underwent hematopoietic stem cell transplant compared with a healthy control group. A secondary aim was to utilize mid-upper arm circumference as a measure of nutritional status in these groups of children. MATERIALS AND METHODS: Our study group included 40 children (18 girls, 22 boys) with mean age of 9.2 ± 4.6 years (range, 2-17 y) who underwent hematopoietic stem cell transplant. Our control group consisted of 20 healthy children (9 girls, 11 boys). The children were evaluated at admission to the hospital and followed regularly 3, 6, 9, and 12 months after discharge from the hospital. RESULTS: In the study group, 27 of 40 patients (67.5%) received nutritional support during hematopoietic stem cell transplant, with 15 patients (56%) receiving enteral nutrition, 6 (22%) receiving total parenteral nutrition, and 6 (22%) receiving enteral and total parenteral nutrition. Chronic malnutrition rate in the study group was 47.5% on admission to the hospital, with the control group having a rate of 20%. One year after transplant, the rate decreased to 20% in the study group and 5% in the control group. The mid-upper arm circumference was lower in children in the study group versus the control group at the beginning of the study (P < .05). However, there were no significant differences in mid-upper arm circumference measurements between groups at follow-up examinations (P > .05). During follow-up, all anthropometric measurements increased significantly in both groups. CONCLUSIONS: Monitoring nutritional status and initiating appropriate nutritional support improved the success of hematopoietic stem cell transplant and provided a more comfortable process during the transplant period. Furthermore, mid-upper arm circumference is a more sensitive, useful, and safer parameter that can be used to measure nutritional status of children who undergo hematopoietic stem cell transplant.


Assuntos
Desenvolvimento do Adolescente , Desenvolvimento Infantil , Fenômenos Fisiológicos da Nutrição Infantil , Nutrição Enteral , Transplante de Células-Tronco Hematopoéticas , Estado Nutricional , Nutrição Parenteral Total , Extremidade Superior/crescimento & desenvolvimento , Adolescente , Fenômenos Fisiológicos da Nutrição do Adolescente , Fatores Etários , Antropometria , Estudos de Casos e Controles , Criança , Pré-Escolar , Nutrição Enteral/efeitos adversos , Feminino , Humanos , Masculino , Avaliação Nutricional , Nutrição Parenteral Total/efeitos adversos , Valor Preditivo dos Testes , Estudos Prospectivos , Fatores de Tempo , Resultado do Tratamento
13.
Turk J Pediatr ; 58(2): 145-151, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27976554

RESUMO

Gastrointestinal tract is one of the major systems affected by graft-versus-host disease (GVHD). Injury to the gut during conditioning therapy before stem-cell transplantation (SCT) plays a pivotal role in the initiation of inflammatory stimuli. We reviewed medical records of the patients who underwent SCT between April 2010 and June 2013 in our center. A stepwise upgrade diet was given to the children with acute GI-GVHD (Gastrointestinal GVHD) including parenteral and enteral nutrition. A total of 105 patients underwent SCT and seven patients developed grade III-IV acute GI-GVHD. Total parenteral nutrition (TPN) was initiated to all patients after the diagnosis of GI-GVHD and minimal enteral nutrition (1-2 ml/kg/day standard pediatric enteral formula/special meat soup) was given to the patients. GI-GVHD improved in all patients with no change in body weight, and recovery to a normal diet took 10-30 days. Stepwise diet management of oral nutrition contributed to rapid improvement of grades III-IV acute GI-GVHD.


Assuntos
Gastroenteropatias/dietoterapia , Doença Enxerto-Hospedeiro/dietoterapia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Nutrição Parenteral/métodos , Adolescente , Criança , Pré-Escolar , Dieta , Feminino , Gastroenteropatias/etiologia , Humanos , Masculino
14.
Indian J Gastroenterol ; 35(3): 236-41, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27160094

RESUMO

Abetalipoproteinemia (ABL; OMIM 200100) is a rare autosomal recessive disease that affects the absorption of dietary fats and fat soluble vitamins. Here, we describe the clinical and genetic characteristics of three patients with ABL. Two patients (patients 1 and 2) who were carriers of the c.398-399delAA mutation (previously known mutation) had developmental delay and hepatic steatosis developed at the age of five in patient 1. Patient 3 was the carrier of a novel mutation (g.10886-10902delAAGgtaagtttgtgttg in intron 3 and c.506A>T exon 5) in microsomal triglyceride transfer protein (MTP) gene and had hepatic steatosis.


Assuntos
Abetalipoproteinemia/genética , Proteínas de Transporte/genética , Estudos de Associação Genética , Mutação , Deficiências do Desenvolvimento/genética , Fígado Gorduroso/genética , Feminino , Seguimentos , Heterozigoto , Humanos , Lactente , Íntrons/genética , Masculino , Turquia
15.
Turk J Pediatr ; 57(1): 45-52, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26613220

RESUMO

We aimed to evaluate the neonates diagnosed as IEM in our neonatal intensive care unit and their outcomes. Among 2994 neonates hospitalized, 51 were diagnosed as IEM (1.7%). Admission complaints were poor feeding, decreased activity, jaundice, seizures, abnormal screening and respiratory problems. Phenylketonuria (11), organic acidemias (8), maple syrup urine disease (5), citrullinemia (5), galactosemia (4), nonketotic hyperglycinemia (4) and tyrosinemia (2) were the most commonly diagnosed IEMs. The follow-up period was 2.5-43 months. Among the 33 neonates followed, 19 had normal development, 9 had developmental delays and 5 had cerebral palsy according to the Guide for Monitoring Child Development. Postnatal age on admission, Apgar score at 5 minutes, being transferred, peritoneal dialysis, cranial ultrasonographic findings, consanguinity and sibling history had significant effects on outcome. Early diagnosis through expanded neonatal screening in countries with high rates of consanguinity, enabling the initiation of early treatment, is essential for achieving low mortality rates and good prognoses.


Assuntos
Erros Inatos do Metabolismo/epidemiologia , Criança , Diagnóstico Precoce , Feminino , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Masculino , Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal , Prognóstico , Centros de Atenção Terciária , Atenção Terciária à Saúde/estatística & dados numéricos
16.
Growth Horm IGF Res ; 23(5): 196-9, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23890535

RESUMO

OBJECTIVE: We wanted to examine the relationship between initial growth response to recombinant human Growth Hormone (rhGH) treatment and body composition in children with growth hormone deficiency (GHD). DESIGN AND METHODS: Forty-two patients (21 boys and 21 girls) aged between 5.7-15.5 years (mean age: 10.8 ± 2.6 years) with isolated GHD. The auxological and laboratory data (GH and IGF-I levels) and results of bioelectrical impedance analyses were evaluated. Children with GHD were followed up for 12 months and categorized according to growth response to rhGH into good and poor responders (change in height of > 0.7 SDS or < 0.7 SDS over one year respectively). Mean doses of rhGH per kg of fat free mass (FFM) were calculated. RESULTS: Forty-eight percent of patients showed a good growth response to rhGH therapy. At study entry, mean age, height SDS, weight SDS, serum IGF-1 SDS, IGFBP-3 SDS, growth velocity prior to rhGH therapy, GH after clonidine and l-dopa were similar in the two groups. At baseline, BMI SDS and waist-hip ratio were significantly higher in good responders (p = 0.02 and p = 0.006, respectively). Good responders had lower percentages of FFM (73.4 ± 8.9 vs. 83.1 ± 5.9) and total body water (TBW) (56.5 ± 5.3 vs. 63.1 ± 4.4), compared to poor responders (p < 0.05). There were significant correlations between changes in height SDS over one year and baseline body composition in children with GHD on rhGH treatment (r = -0.617 for percentage of FFM, r = -0.629 for percentage of TBW, p < 0.001). A correlation between BMI SDS, waist-hip ratio, mean rhGH dose per FFM and growth response was observed only in prepubertal subjects. CONCLUSION: Baseline body composition data in children with GHD can be used to predict the growth response to rhGH treatment. A management strategy that involves titrating rhGH dose according to FFM as a means of optimizing the growth response to intervention requires further study.


Assuntos
Composição Corporal/fisiologia , Estatura/efeitos dos fármacos , Desenvolvimento Infantil/efeitos dos fármacos , Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento Humano/uso terapêutico , Adolescente , Índice de Massa Corporal , Criança , Feminino , Seguimentos , Transtornos do Crescimento/fisiopatologia , Hormônio do Crescimento Humano/deficiência , Humanos , Masculino , Resultado do Tratamento , Relação Cintura-Quadril
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA