Health related quality of life of Iranian children with type 1 diabetes: reliability and validity of the Persian version of the PedsQL™ Generic Core Scales and Diabetes Module

<p>Abstract</p> <p>Background</p> <p>The aim of this study was to measure health related quality of life (HRQOL) in Iranian children with type 1 diabetes and to test the psychometric properties of the Persian version of the PedsQL™ 4.0 Generic Core Scales and the PedsQL™ 3.0 Diabetes Module.</p> <p>Methods</p> <p>Participants were 94 children and adolescents diagnosed with type 1 diabetes for at least 3 months in Shiraz, southern Iran. Convergent, discriminant, and construct validity of the PedsQL™ 4.0 Generic Core Scales and the PedsQL™ 3.0 Diabetes Module were assessed. Moreover, internal consistency was checked by Cronbach's alpha coefficient.</p> <p>Results</p> <p>Cronbach's α for the PedsQL™ 4.0 Generic Core Scales and the PedsQL™ 3.0 Diabetes Module was greater than 0.80 both in the child self-report and parent proxy-report. Both generic and disease-specific versions of the PedsQL showed excellent convergent and acceptable discriminant validity except for 'diabetes symptoms' subscale in the child self-report of the disease-specific module. Moreover, Iranian children with diabetes, as compared with other countries, had lower HRQOL scores.</p> <p>Conclusions</p> <p>While this study showed that the Persian version of the PedsQL™ 4.0 Generic Core Scales has good psychometric properties in children with type 1 diabetes, the PedsQL™ 3.0 Diabetes Module needs some modifications to be used as a disease-specific quality of life (QOL) measure. Also, more support should be provided for the care of Iranian children with diabetes.</p

Zespół Brucka — rzadki zespół charakteryzujący się kruchością kości, przykurczami stawowymi i nowoodkrytą homozygotyczną mutacją FKBP10

Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. According to the genotype, it has been classified into types 1 and 2. Recently, mutations in FKBP10, localised to chromosome 17q21, have been identified in some patients of Bruck syndrome. Twenty-seven patients of this syndrome have been reported so far. We present a new patient of this syndrome, with frequent fractures, congenital joint contractures, kyphoscoliosis, bilateral clubfoot, and pectus carinatum. The clinical and genetic features of all previously reported cases are also reviewed. (Endokrynol Pol 2015; 66 (2): 170–174)Zespół Brucka jest autosomalną chorobą recesywną, na którą składa się kruchość kości i wrodzone przykurcze stawowe. Zgodnie z genotypem zespół ten można podzielić na typ 1 i 2. Ostatnio, u niektórych pacjentów z zespołem Brucka wykryto mutacje FKBP10, genu zlokalizowanego na chromosomie 17q21. Do tej pory zarejestrowano 27 pacjentów z tym zespołem. Autorzy przedstawiają nowego pacjenta ze zdiagnozowanym zespołem Brucka, z częstymi złamaniami, wrodzonymi przykurczami stawowymi, kifoskoliozą kręgosłupa, obustronną stopą końsko-szpotawą i klatką piersiową kurzą. Przytoczymy również kliniczne i genetyczne cechy wszystkich wcześniej potwierdzonych przypadków. (Endokrynol Pol 2015; 66 (2): 170–174

A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene

Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid, occurs due to the BCKDC gene deficiency, appearing in the blood, urine, and cerebrospinal fluid, which leads to neurological damage and mental retardation. MSUD phenotypically penetrates due to the mutations in the coding genes of four subunits of the BCKD complex, including the BCKDHA, BCKDHB, DBT, and DLD genes.Case report: We aimed to report the cases of three families whose children were affected by MSUD and presented with symptomatic features during the first week of birth, which were identified by mass spectrometry. DNA study was performed as a diagnosis panel containing four encoded BCKDC subunit genes.Conclusion: In the current study, DNA analysis and phenotypic manifestations indicated a novel mutation of c.143delT, p.L48Rfs*15 in the BCKDHA gene in a homozygous state, which is a causative mutation for the classic MSUD phenotype. Early diagnosis and neonatal screening are recommended for the accurate and effective treatment of this diseas

Changing the treatment of permanent neonatal diabetes mellitus from insulin to glibenclamide in a 4-month-old infant with kcnj11 activating mutation

Permanent neonatal diabetes mellitus (PNDM) is a rare type of diabetes and KCNJ11 gene activating mutation is one of its prevalent causes. We introduced a 4-month-old male infant with poor feeding, restlessness, tachypnea, hyperglycemia, metabolic acidosis, and ketonemia. He was discharged with insulin and after 2 months, KCNJ11 gene mutation was found and treatment was switched from subcutaneous insulin to oral glibenclamide. Now, he is 1 year old with desirable glycemic control; therefore, genetic study is recommended for KCNJ11 gene mutation in such patients because if the mutation is found, treatment can be switched from insulin to sulfonylurea

The Relation between Demographic Factors, Family History, Concomitant Autoimmune Diseases and Glycemic Control in Children with Type 1 Diabetes, A Cross- Sectional Study

Background: Type 1 diabetes mellitus (T1DM) is a common disease which causes acute and chronic complications such as diabetic ketoacidosis, retinopathy, nephropathy, and atherosclerosis. Improvement in glycemic control can prevent these complications.&nbsp;Objectives: This study aimed to assess the role of demographic factors, family history of diabetes and concomitant autoimmune diseases on glycemic control in children with T1DM in the south of Iran.&nbsp;Materials and Methods: One hundred children with T1DM who were referred to a pediatric diabetes subspecialty clinic were enrolled in the study. Patients with type 2 and other types of diabetes and the ones whose diabetes type was not clinically clear were excluded from the study. After taking&nbsp; history and physical examination, data collection forms about the participants’ demographic factors were filled out. Hemoglobin A1C (HbA1C) level, total Immunoglobulin A (IgA), anti-tissue transglutaminase IgA, T4 and thyroid stimulating hormone were measured. Descriptive statistics were applied for analysis of the data.Results: Older patients had significantly higher HbA1c levels (P-value= 0.023) According to linear regression model, HbA1C level increases up to about %12 per year. Other factors such as sex, parental education, and family history of diabetes and concomitant autoimmune diseases (hypothyroidism and celiac disease) had no significant relationship with HbA1C level.Conclusions: As the patient grows, his/ her glycemic control worsens. Therefore, more strict efforts should be made as to education, more expert visits and more social aids in order to protect from short term and long term complications.</p

Investigation of the Relationship Between Retinol Binding Protein 4, Metabolic Syndrome and Insulin Resistance in Iranian Obese 5-17 Year Old Children

Objective: Retinol-binding protein 4 (RBP4) has recently been reported to be associated with insulin resistance (IR) and the metabolic syndrome by a number of researchers in various populations. However, controversies are present among different studies, which might be due to the differences between various ethnic, age, and sex groups. This study aimed to determine whether RBP4 can be assumed as a marker of IR and the metabolic syndrome in the Iranian obese children. Methods: In the present longitudinal cross-sectional study, 100 5-17 years old obese children were recruited from January 1, 2011 to February 1, 2012. The patients’ information including the demographic variables, health status and behavior, and daily physical activity were collected. Moreover, serum RBP4 was measured and correlated with the homeostasis model assessment of IR index (HOMA-IR), components of the metabolic syndrome, and lipoprotein metabolism. Findings: The results revealed a positively significant correlation between RBP4 and the HOMA-IR index (P=0.02). Partial Spearman test also revealed a significant correlation between RBP4 plasma concentrations and the components of the metabolic syndrome, including waist circumference, systolic (but not diastolic) blood-pressure, and fasting blood sugar (P<0.05). However, no significant correlation was observed between RBP4 and HDL (P=0.3) as well as triglycerides concentration (P=0.1). Moreover, plasma RBP4 level gradually increased with the increasing number of the metabolic syndrome components. Conclusion: Regarding the results of the present study and previous investigations, RBP4 seems to be a suggestible predictive marker for both insulin resistance and metabolic syndrome in Iranian obese children; however, further studies are needed to be conducted among different ethnicities and age groups in order to determine the predictive value of this correlation

Bone mineral density in children wth systemic lupus erythematosus and juvenile rheumatoid arthritis

Background: Although there is increasing interest in bone metabolism in patients with rheumatic disorders, few data exist on bone mineral density (BMD) in children with rheumatic disorders or on the association of BMD with disease-related variables. We determined BMD in Iranian children with systemic lupus erythematosus (SLE) and juvenile rheumatoid arthritis (JRA) to evaluate the relationship between disease-related variables and BMD. Patients and Methods: Twenty patients (13 girls and 7 boys) with SLE (n=15) and JRA (n=5) with a mean age of 13.10&#x00B1;3.29 years (range, 6-17 years), attending a pediatric rheumatology clinic and 20 healthy controls (matched for age and sex with each patient) were enrolled in a cross-sectional study between 2001 and 2003. BMD (g/cm 2 ) of the femoral neck (BMD-F) and lumbar vertebrae (BMD-L) were measured by dual energy X-ray absorptiometry (DEXA). The correlation between BMD and cumulative dose of steroids, daily dose of steroid, disease duration, disease activity, height, weight, and age was investigated. Results: BMD in the patients (BMD-F=0.72&#x00B1;0.15, BMD-L=0.70&#x00B1;0.19) was significantly lower than controls (BMD-F=0.95&#x00B1;0.17, BMD-L=0.98&#x00B1;0.20, P&#60; 0.001). The severity of decreased BMD was more prominent in lumbar vertebrae than the femoral neck (P= 0.04). None of the variables were consistently related to a decrease in BMD. Conclusion: BMD was significantly lower in patients compared with controls. It was more prominent in lumbar vertebrae (trabecular bone). Although cumulative dose of steroids and disease duration appeared to have some influence on BMD, none were independently correlated with BMD

Incidence of neonatal hyperphenylalaninemia in Fars province, Southern Iran

Objective: Phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin (BH4), deficiency causes accumulation of phenylalanine in body fluids and central nervous system. Considering the fact that hyperphenylalaninemia is a preventable cause of mental retardation in infants, the objective of this study was to determine the incidence of congenital hyperphenylalaninemia in Fars province, south of Iran. Methods: In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Fars province for measurement of serum phenylalanine. The samples with a serum level of ≥ 2 mg/dl were referred to pediatric endocrine clinic for confirmation and determination of the type of hyperphenylalaninemia by quantitive serum phenylalanine measurements by using High-Pressure liquid chromatography (HPLC) method. Findings: Nine out of 76966 newborns had a serum phenylalanine level ≥2mg/dl, of which 8 cases were confirmed by HPLC. The incidence of the disease was 1:10000. The incidence of mild hyperphenylalaninemia and phenylketonuria (PKU) among the patients was 62.5% and 37.5% respectively and the incidence of BHP, deficiency was 1/76966. Conclusion: These findings indicate a high incidence of hyperphenylalaninemia, in the newborns from Fars province. The high incidence makes a comprehensive screening program for management of the disease necessary

Combined Use of Growth Hormone and Gonadotropin-Releasing Hormone Analogue in Short Normal Adolescent Girls: A Survey from Iran

Combined therapy with gonadotropin-releasing hormone (GnRH) analogue and growth hormone (GH) has been used to increase the height of adolescents who are not GH deficient and who have normally timed puberty. Its use, however, is still controversial. For 2 years simultaneously, we treated eight healthy girls with very low predicted adult height (PAH < 145 cm) who were entering into normally timed puberty. The GnRH analogue triptorelin pamoate (Decapeptyl, 100 μg/kg intramuscularly every 4 weeks) and GH (0.1 IU/kg/day subcutaneously, 6 days/week) were administered. The mean chronologic age (CA) of our patients was 11.01 ± 0.95 years, and mean bone age (BA) was 12.25 ± 1.13 years. With a height of 131.50 ± 5.83 cm (−2.37 ± 0.35 SD below the mean) and PAH of 140.87 ± 3.53 cm, they were all in Tanner stage 2-3 of puberty (except one patient in stage 4). In all cases, GH and thyroid hormone deficiency were ruled out before the study began. Height and BA were measured immediately after discontinuation of therapy. PAH was determined before and at the end of therapy. Combined treatment resulted in a 4.13 ± 1.19 cm increase in PAH (p < 0.01). Height increased significantly to 142.66 ± 3.54 cm at the end of treatment (p < 0.01). Height standard deviation score for CA increased from −2.37 ± 0.35 to −2.32 ± 0.67, showing no significant improvement (p = 0.5). Height age (HA)/BA ratio and BA/CA ratio both demonstrated significant growth during the treatment (p < 0.03 and p < 0.01, respectively), whereas HA/CA ratio did not improve significantly (p < 0.32). During treatment, puberty was completely suppressed in all cases. Combination therapy with GnRH analogue and GH resulted in significant improvement in height and PAH during therapy. Additional, and perhaps more long-term, studies are required to show whether this kind of treatment is effective in improving final adult height. The cost-benefit of such therapies should also be taken into account