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1.
Hum Genomics ; 17(1): 12, 2023 02 20.
Artigo em Inglês | MEDLINE | ID: mdl-36803953

RESUMO

BACKGROUND: Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome due to a pathogenic variant in NF1 gene. METHODS: Clinical evaluations were performed along with genetic testing using whole exome sequencing (WES). The variant analysis including pathogenicity prediction was also done using bioinformatics tools. RESULTS: The chief compliant of the patient was short stature and lack of proper weight gain. Other symptoms were developmental delay, learning disability, inadequate speech skill, broad forehead, hypertelorism, and epicanthal folds, low set ears and webbed neck. A small deletion, c.4375-4377delGAA, was found in NF1 gene using WES. This variant was classified as pathogenic according to ACMG. CONCLUSIONS: NF1 variants may show variable phenotypes among the patients; identifying such variants is helpful in therapeutic management of the disease. WES is considered as an appropriate test to diagnose Neurofibromatosis-Noonan syndrome.


Assuntos
Neurofibromatoses , Neurofibromatose 1 , Síndrome de Noonan , Humanos , Genes da Neurofibromatose 1 , Irã (Geográfico) , Mutação , Neurofibromatoses/diagnóstico , Neurofibromatoses/genética , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Neurofibromatose 1/patologia , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Feminino , Criança
2.
J Pediatr Hematol Oncol ; 41(4): e227-e232, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30883461

RESUMO

Platelet (PLT) hyperactivity is a key factor which contributes to cardiovascular complications in patients with type 2 diabetes mellitus even in preclinical stages of disease. To the best of our knowledge, there is limited researches in this regard among patients with type 1 diabetes. The aim of this study was to evaluate hematologic indices indicating PLT activity in children with type 1 diabetes. This was a case-control study which was conducted on 166 inpatients in 17 Shahrivar children hospital, Rasht, Iran during April 2016 to April 2017. Cases and controls were 83 children with type 1 diabetes mellitus and 83 children hospitalized for thorough assessment of short stature, respectively. Groups were matched for age and sex. Demographic characteristics and hematologic variables were assessed. The Shapiro-Wilk test was used to determine the normality of the distribution. Results for continuous and categorical variables were demonstrated as mean±SD and number and percent, respectively. Continuous variables without normal distribution were demonstrated as median (interquartile range). The χ/Fisher's exact test was used to compare categorical variables. The normal and non-normal distributed quantitative variables were respectively assessed by independent T-test or Mann-Whitney U test. P-value <0.05 noted statistical significance. The median (interquartile range) age of all children was 10 (6 to 13) years old. Thirty-five (42.2) of patients with diabetes and 35 (42.2) of control group were male individuals. There were positive correlation between age (r=0.370; P=0.001), hemoglobin (r=0.278; P=0.009), blood sugar (r=0.243; P=0.027), PLT distribution width (r=0.229; P=0.038), plateletcrit (PCT) (r=0.290; P=0.008), PLT to lymphocyte ratio (r=0.230; P=0.037) and glycosylated hemoglobin in children with diabetes. The cut-off point of PCT was 0.19 (sensitivity=87.8%, specificity=66.7%). Only increased PCT (>0.19) was related with poor metabolic control and can put the patients to the risk of future cardiovascular events. The authors recommend considering multiple PLT parameters, and not just one of them, and even designing a scoring system in terms of PLT parameters for type 1 diabetes mellitus management programs.


Assuntos
Plaquetas/patologia , Diabetes Mellitus Tipo 1/sangue , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Volume Plaquetário Médio , Contagem de Plaquetas , Sensibilidade e Especificidade
3.
Int J Prev Med ; 14: 19, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37033288

RESUMO

Background: Childhood type 1 diabetes mellitus (T1DM) is an autoimmune disease which is increasing in incidence, but little is known about the events that trigger the autoimmune process. Most of the time, these processes begin in prenatal and natal periods; therefore, this study aimed to investigate the prenatal and neonatal risk factors of T1DM in childhood. Methods: This case-control study has been performed on children with T1DM who referred to the 17th Shahrivar children's hospital. The control group consisted of healthy siblings of the case group. Data were gathered using a form that included maternal and neonatal characteristics. Data were reported by descriptive statistics in SPSS 19. To investigate the effect of quantitative and qualitative variables on the development of T1DM, logistic regression and Chi-square tests were used, respectively. Results: Birth weight, birth height, and maternal weight gain during pregnancy had a significant relationship with T1DM (odds ratio [OR] = 1.23, 2.57, and 1.14, respectively). In addition, there was a significant relationship between gestational hypertension (OR = 5.27), neonatal jaundice (OR = 3.42), cesarean section (OR = 2.06), and being non-first-born child (OR = 2.32) and T1DM. Also, premature rupture of membrane, maternal urinary tract infection, and nonexclusive breastfeeding had a significant association with T1DM (OR = 4.37, 3.94, and 2.30, respectively). There were no statistically significant differences between maternal age, sex, neonatal respiratory disease, prematurity, and neonatal infections and T1DM (P > 0.05). Conclusions: Prenatal and neonatal risk factors can have a significant role in the occurrence of TIDM. Therefore, considering these risk factors can have a preventive effect on T1DM.

4.
PLoS One ; 18(12): e0273516, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38085723

RESUMO

INTRODUCTION AND AIMS: Phototherapy is the most common treatment modality of neonatal hyperbilirubinemia. We aimed to evaluate the therapeutic effect of oral Ursodeoxycholic Acid (UDCA) on indirect hyperbilirubinemia in term neonates undergoing phototherapy. MATERIALS AND METHODS: This randomized controlled clinical trial was performed on 106 full-term neonates with jaundice who were admitted to the neonatal ward of 17 Shahrivar Hospital in Rasht, Iran. The neonates were randomly assigned to two groups of intervention (10 mg/kg UDCA+phototherapy) and control (phototherapy alone). Total serum bilirubin (TSB) was measured at the time of admission, during first 12, 24, and 48 hours after admission and at the time of discharge. The duration of hospitalization and side effects were also assessed in both groups. IBM SPSS Statistics for Windows, version 20 was used to analyze the data. RESULTS: Results showed that in the intervention group, 28 (52.8%) of neonates were boys with the mean age of 5.1±1.25 days. While, in the control group 29 (54.7%) of them were boys with the mean age of 5.19±2.26 days. Bilirubin levels in both groups decreased significantly after hospitalization (at 12, 24 and 48 hours) (P <0.001). The mean of bilirubin at 12, 24 and 48 hours in the intervention and control groups were 17.1, 13.2, 10.2 mg / dl and 17.1, 14.2 and 11.3 mg / dl, respectively. At the time of discharge, TSB in the former compared to the latter group was significantly reduced (7.74± 1.39 vs. 8.67±1.35) (P = 0.001). In addition, the duration of hospitalization was considerably shorter in the intervention compared to the control group (P = 0.038) and no side effects were observed. CONCLUSIONS: Administering UDCA plus phototherapy reduced TSB and length of hospital stay with proper safety and efficacy. Therefore, it seems that this combination can be an appropriate treatment modality in neonatal hyperbilirubinemia.


Assuntos
Hiperbilirrubinemia Neonatal , Icterícia , Masculino , Recém-Nascido , Humanos , Feminino , Ácido Ursodesoxicólico/efeitos adversos , Hiperbilirrubinemia Neonatal/terapia , Bilirrubina , Fototerapia/métodos
5.
Int J Prev Med ; 12: 53, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34447495

RESUMO

BACKGROUND: Congenital hypothyroidism (CH) is one of the most prevalent preventable causes of mental retardation. Studies show that the incidence rate of CH is very high in Iran. Disease mapping is a tool for visually expressing the frequency, incidence, or relative risk of illness. The present study aimed to model CH counts considering the effects of the neighborhood in towns and perform mapping based on the relative risk. METHODS: In this historical cohort study, data of all neonates diagnosed with CH with TSH level ≥5 mIU/L between March 21, 2017, and March 20, 2018, in health centers in Guilan, Iran were used. The number of neonates with CH was zero in most towns of Guilan Province. The Bayesian spatial zero-inflated Poisson (ZIP) regression model was employed to investigate the effect of the town's neighborhood on the relative risk of CH incidence. Then, the map of the posterior mean of the relative risk for CH incidence was provided. The analysis was performed using OpenBUGS and Arc GIS software programs. RESULTS: The relative risk of CH incidence was high in the West of Guilan. Moreover, the goodness-of-fit criterion indicated that it is more appropriate to fit the Bayesian spatial ZIP model to these data than the common model. CONCLUSIONS: Considering the high relative risk of CH in the Western towns of Guilan Province, it is better to check important risk factors in this region.

6.
Iran J Child Neurol ; 14(3): 69-78, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32952583

RESUMO

OBJECTIVES: The current study aimed to assess the need for emergency neuroimaging in children with first CFC. MATERIALS AND METHODS: This is an analytic cross-sectional study conducted on children aged 6-60 months with first CFC. Data were gathered by a form that evaluates age, sex, imaging type, body temperature, and the duration of fever before convulsion, the duration and frequency of convulsion, and family history of FC. Data were analyzed via the Fisher Exact Test in SPSS version 19. RESULTS: A total of 111 patients participated in this study with first CFC and mean age of 21.18±11.83 months. Regarding the type of CFC, the results showed that the highest and lowest frequencies belonged to multiple and multiple focal prolonged FC, respectively. Upper respiratory infection was the most common diagnosis. Also, 2 nonsignificant abnormal neuroimaging results were noted. CONCLUSION: Performing emergency neuroimaging in patients with first CFC was not mandatory in the absence of developmental disorders, abnormal neurologic examination, underlying neurological disorder, and head trauma. This is an important result in our country due to the lack of access to neuroimaging modalities in many hospitals, and the irradiation risk in childhood and its high cost.

7.
Iran J Child Neurol ; 11(3): 37-41, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28883875

RESUMO

OBJECTIVE: Migraine is the mosyndrome and infantile colic is a common cause of infantile cry. The pathogenesis of migraine and colic has not been well established and different factors may cause them. There is an association between infantile colic and the occurrence of childhood migraine. We aimed to assess whether infantile colic could be noted as an early life expression of childhood migraine or not. MATERIALS & METHODS: This retrospective case-control study was conducted on 5-15-year-old childrenin Rasht, Iran during 2015-2016. Forty-one cases were children with migraine with or without aura. Overall, 123 Control participants were children with the same age referred to the pediatric clinic for routine care. Data were gathered by a checklist including age, sex, birth weight, family history of migraine, the occurrence of colic and type of feeding during infancy. Data were reported by descriptive statistics and analyzed by Fisher exact test using SPSS ver. 19. RESULTS: Overall, 164 children with the mean age of 8.36± 2.53 yr were enrolled. Seventeen (41.46%) children with migraine vs. 44 (35.7%) children in control group had the positive history of infantile colic and Fisher exact test noted significant relation between migraine and colic. Thirty-three children with infantile colic (46.57%) had the positive family history of migraine, which was significantly higher than 27 children without colic (29.7%). There was a significant relation between infantile feeding and migraine. CONCLUSION: There is a probable relation between colic and migraine, therefore, migraine and colic as 2 pain syndromes may have a common pathophysiology and further investigations on this common pathophysiology is justified.

8.
Acta Med Iran ; 54(4): 270-5, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27309269

RESUMO

The aim of this study was to investigate the correlation between each parent's Body Mass Index (BMI) and maternal age with weight status of children. This was an analytic cross-sectional study which was conducted on 12-year-old students from different areas in Rasht, north part of Iran. The checklist included demographic characteristics such as age, maternal age during childbirth, student and maternal height and weight, child rank. Data were analyzed by Pearson correlation analysis, paired t-test and ANOVA test and chi-square in SPSS software 19.0. A P-value less than 0.05 were considered statistically significant. A total of 200 adolescents participated in this study consisted of 106 (53%) boys. Results showed a significant correlation between students' BMI and parental BMI and father's weight. Also, there was a significant correlation between students' weight with parental BMI and father's weight, and birth rankIn conclusion, the role of the family in changing nutritional habits of children must be considered because through parental education and changing their perceptions we can prevent obesity.


Assuntos
Obesidade/epidemiologia , Pais , Estudantes , Adulto , Índice de Massa Corporal , Peso Corporal , Criança , Estudos Transversais , Feminino , Humanos , Irã (Geográfico) , Masculino , Adulto Jovem
9.
Iran J Child Neurol ; 9(2): 58-60, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26221165

RESUMO

OBJECTIVE: Biotin is a coenzyme composed of four carboxylases. It presents in amino acid catabolism, fatty acid synthesis, and gluconeogenesis. Biotinidase recycles the vitamin biotin. A biotinidase deficiency is a neurocutaneous disorder with autosomal recessive inheritance. The symptoms can be successfully treated or prevented by administering pharmacological doses of biotin. Although, according to neonatal prenatal medicine (2011), a biotinidase deficiency does not manifest during the neonatal period. In this study, we report on a case of biotinidase deficiency in the first week of birth. CASE REPORT: A 3100 g term boy was born via cesarean section. After 3 days, he was referred to the 17th Shahrivar Hospital with the chief complaint of tachypnea and grunting. Laboratory results revealed that liver and renal function tests, serum electrolytes, and blood indexes except ammonia were all normal. Within few days after the administration of oral biotin, the patient showed dramatic improvement and was discharged. However, within 4 months he was admitted two other times with the complaints of diarrhea and pneumonia. Unfortunately, he expired after 4 months. According to our results, it seems that clinicians should accurately assess suspicious patients and even assess infants for biotinidase deficiency.

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