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1.
IJEM-Iranian Journal of Endocrinology and Metabolism. 2015; 16 (5): 371-382
em Persa | IMEMR | ID: emr-159889

RESUMO

Rickets, which occurs during bone growth development, is a result of severe vitamin D deficiency, that has autosolamal subtypes, i.e. A- type 1- [VDDR-I], due to a defect of the 1-alfa-hydroxilase enzyme and B] type -2[VDDR-II], due to a mutation in the intracellular vitamin -D receptor [VDR], associated with some specific symptoms like alopecia [global head hair loss] and short stature. Diagnosis was established based on physical examination, laboratory findings and radiological examination. We report here 3 cases with vitamin D-dependent rickets, type-II, all members of the same family [2 sisters, aged 1.5, 5 years and their 5 year-old cousin] who had referred to the endocrine and metabolic center in the Imam-Reza hospital in Mashhad, presenting with limb deformities, wide wrist, seizures, disorder in dental growth, alopecia, and several bone fractures. Despite various treatments, they had not recovered. However it was notable that after receiving growth hormone therapy for growth failure, rickets symptoms improved dramatically in clinical, laboratory, and radiological parameters. Using growth hormone therapy to improve height, we observed improvements in the underlying disease of siblings with VDDR-type-II. Growth hormone therapy may be advisable to treat VDDR-type II symptoms


Assuntos
Humanos , Masculino , Feminino , Doenças Genéticas Ligadas ao Cromossomo X , Hormônio do Crescimento , Raquitismo , Biomarcadores , Radiologia , Deficiência de Vitamina D
2.
Tehran University Medical Journal [TUMJ]. 2014; 72 (1): 59-64
em Persa | IMEMR | ID: emr-147260

RESUMO

In most children with Acute Lymphoblastic Leukemia [ALL] and Non Hodgkin's Lymphoma [NHL] who have received chemotherapy with and without radiotherapy, some late effects due to treatment may occur such as endocrinopathies. We evaluated growth criteria [including short stature, obesity] and thyroid test function in 50 children with ALL [n=25] and NHL [n=25] 3-17 year-old in remission period who randomly received chemotherapy with [n=25] or without [n=25] radiation such as our treatment groups. The values for height, weight and BMI in less than 5[th] or more than 95[th] percentile considers abnormal. Six [12%] patients were in less than 5[th] percentile height [short stature]. Two patients [4.0%] had over-weight and 48 [96%] were in normal range of BMI. Six [12%] patients were in less than 5[th] and 3 [6%] were in more than 95[th] weight percentile. There was no significant difference between two different treatment groups for TSH [P=0.662] but there was a significant difference between these groups in case of T4 [P=0.049]. Mean and SD for T4 in patients with chemotherapy alone was less than in whom received chemotherapy plus radiotherapy. There was no significant difference between ALL and NHL groups for TSH, T4 [P=0.567, 0.528 respectively]. Two boys with ALL without history of radiation had hypothyroidism that had based on their laboratory data. Regarding to effects of thyroid dysfunction on short stature and obesity in adolescent with ALL and NHL, we suggest to have more attention about growth, thyroid test to avoid late side effect of malignancy treatment

3.
IJP-International Journal of Pediatrics. 2014; 1 (2): 19-23
em Inglês | IMEMR | ID: emr-152380

RESUMO

Sometimes physicians need to assess some markers on selected children's cerebrospinal fluid according to lumbar puncture [LP]. Although immediate diagnosis and treatment especially for meningitis in necessary, But just at this moment, due to some incorrect believe in society, some parents may not allow physician to LP. The reality is that most of these people, if they have enough information about this issue, will not interfere. This study aimed to assess the knowledge and attitudes of parents toward this subject. Through a cross - sectional study we evaluated 91 parents of children, who must been undergone LP as physician's decision, selected during 18 months using purposive sampling. The data collection tool was a questionnaire that consisted of two sections of the child and the parents' knowledge and attitudes. Scientific validity of the questionnaire was confirmed by content validity. To achieve the objectives, SPSS 15 and descriptive statistics and chi-square test were used. 61 parents [67%] mentioned fear of some side effects as the main reason of their children 's LP discontent .The most important cause of fear was low back pain according to 50 [54.9%] parents 's view. 70 parents [76.9%] had some satisfaction after performing LP .There was statistically significant difference between proportion of satisfied parents and non-satisfied ones [p<0.001]. Average score parental satisfaction for LP was [7.2 +/- 3.2 87]. It seems that improvement of parents 's information about LP process and it's benefits by health care group, may influence on their belief and cooperation during diagnostic tests

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