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BACKGROUND: Recent studies reported that strict avoidance of milk products in cow's milk allergy (CMA) affects growth and bone turnover, causing negative calcium balance and changes in bone metabolism. OBJECTIVE: To investigate biochemical parameters to predict bone turnover and its relations with height and weight measurements and nutritional intake. METHODS: Height, weight, and body mass index z scores were plotted for age according to the World Health Organization. A 3-consecutive day food record was analyzed for nutritional values of foods. The blood levels of calcium, phosphorus, alkaline phosphatase, vitamin D, and parathyroid hormone (PTH) were determined. RESULTS: The study included 69 controls, 66 children with isolated CMA, and 59 children with multiple food allergy (FA). The z scores for weight, height, and body mass index were lower in isolated CMA and multiple FA groups than controls (P < .001, P = .004, and P = .002, respectively). The nutritional intakes of protein, fat, carbohydrates, vitamins B2 and B12, niacin, calcium, and phosphorus were significantly lower in isolated CMA and multiple FA than controls. In infants (≤2 years of age), although blood calcium level was in normal range, it was significantly lower in isolated CMA and multiple FA than in controls (P < .001). In children older than 2 years, PTH level was significantly higher in isolated CMA and multiple FA groups than in controls (P = .003). CONCLUSION: Our study revealed that children with isolated CMA and multiple FA had a high nutrition gap, growth deceleration, and unbalanced bone metabolism, as illustrated by low blood calcium and elevated PTH levels.
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Cálcio , Hipersensibilidade a Leite , Humanos , Lactente , Feminino , Masculino , Hipersensibilidade a Leite/sangue , Pré-Escolar , Animais , Criança , Cálcio/sangue , Hormônio Paratireóideo/sangue , Estatura , Leite , Peso Corporal , Vitamina D/sangue , Índice de Massa Corporal , Fósforo/sangue , Fosfatase Alcalina/sangue , Remodelação Óssea/fisiologiaRESUMO
The aim of this study was to measure the knowledge and attitudes of school staff regarding care in school for children with type 1 diabetes and to evaluate the contribution of the "Diabetes Program at School"(DPS). The data were collected through an online survey consisting of 55 questions, which included 39 knowledge and 16 attitude questions. The survey was delivered to the participating school staff via a link. A total of 55,677 people who completed 100% of the survey were included. Of the participants, 76% were teachers, 23% were school administrators and 0.1% were school nurses. 73% (40732) of the participants stated that they had heard about the "DPS". Of the participants who were aware of the DPS 75%, 50%, and 41% stated an increase in their knowledge level, self-confidence, and awareness respectively. Both scores were positively associated with being female and school nurse, having students with diabetes in the school, having been trained in childhood diabetes, being familiar with the program and being from the Western region of Turkey. The DPS is well known among school staff including teachers, school administrators, and school nurses. However, there are clear regional differences in the knowledge and attitude of school staff regarding diabetes care at school. Therefore, regional differences should be taken into account when planning the necessary interventions to prevent any further increase in the current inequalities. In addition, increasing the number of school nurses, together with strengthening the knowledge and attitude of school staff, can improve the level of diabetes care at school.
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Diabetes Mellitus Tipo 1/terapia , Conhecimentos, Atitudes e Prática em Saúde , Serviços de Saúde Escolar/organização & administração , Professores Escolares/psicologia , Adulto , Idoso , Estudos Transversais , Docentes/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Turquia , Adulto JovemRESUMO
Ovotesticular disorder of sexual development (DSD) is characterized by the presence of both ovarian and testicular tissues in the same individual. The most common karyotype is 46,XX. Here, we report the case of a boy with a 46,XX/47,XXY karyotype diagnosed as ovotesticular DSD by gonadal biopsy. A 5-month-old boy presented with hypospadias, unilateral cryptorchidism, and a micropenis. Pelvic magnetic resonance imaging revealed a suspicious gonad tissue that is solid in structure in the right scrotum and a suspicious gonad that is cystic in structure in the left inguinal canal. He underwent a diagnostic laparoscopy. Cytogenetic analysis of peripheral blood revealed a 46,XX/47,XXY karyotype. Histopathologic examination of the left gonad showed ovarian tissue containing primordial follicles with ipsilateral undifferentiated tuba uterina. The right gonad showed immature testis tissue. He underwent left gonadectomy and hypospadias repair, and was raised as a male. Through this rare case, we highlight the importance of histological and cytogenetic investigation in DSD.
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Transtornos 46, XX do Desenvolvimento Sexual/genética , Síndrome de Klinefelter/genética , Transtornos Ovotesticulares do Desenvolvimento Sexual/genética , Transtornos 46, XX do Desenvolvimento Sexual/patologia , Humanos , Lactente , Cariótipo , Síndrome de Klinefelter/patologia , Masculino , Transtornos Ovotesticulares do Desenvolvimento Sexual/diagnóstico , Transtornos Ovotesticulares do Desenvolvimento Sexual/patologiaRESUMO
We present a 10-year-old girl with typical clinical features of H syndrome. Complete agenesis of the inferior vena cava was found on echocardiography and radiologic studies. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation. This unique case extends the clinical and mutation spectrum associated with H syndrome and underlines the importance of routine cardiac screening in this disorder.
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Anormalidades Múltiplas/genética , Hiperpigmentação/genética , Hipertricose/genética , Proteínas de Transporte de Nucleosídeos/genética , Dermatopatias Genéticas/genética , Veia Cava Inferior/anormalidades , Sequência de Aminoácidos , Criança , Códon sem Sentido , Bases de Dados Genéticas , Saúde da Família , Feminino , Humanos , Dados de Sequência Molecular , SíndromeRESUMO
OBJECTIVE: This study aimed to determine sleep characteristics and their associations with glycemic variability in youth with type 1 diabetes (T1D). MATERIAL AND METHODS: This cross-sectional study conducted at two pediatric diabetes centers in Istanbul, Turkey, included 84 children with T1D (mean age 10.5 years). Sleep characteristics and glycemic variability were determined by actigraphy, DSM-5 Level 2-Sleep Disturbance Scale Short Form and continuous glucose monitoring. Circadian preference was evaluated by the Children's Chronotype Questionnaire. Sleep disturbances were assessed by the. The sleep quality was determined by actigraphy-derived sleep measures. RESULTS: Eighty-eight percent of participants had insufficient age-appropriate total sleep time (TST) (<9 h for 6-13-year-olds and <8 h for 14-17-year-olds). Chronotype was classified as intermediate in 50%, evening in 45.2%, and morning in 4.8%. A higher chronotype score indicating a stronger eveningness preference was associated with more time spent in hypoglycemia (ß = 0.433, p = 0.002). On nights when participants had lower sleep efficiency and longer sleep onset latency, they had significantly higher overnight glycemic variability (ß = -0.343, p = 0.016, ß = 0.129, p = 0.017, respectively). Prolonged nocturnal wake duration was significantly associated with more time spent in daytime hypoglycemia (ß = 0.037, p = 0.046) and higher overnight glycemic variability (J index, ß = 0.300, p = 0.015). The associations between TST and glycemic variability indices were not significant. CONCLUSIONS: Sleep quality rather than TST was significantly associated with glycemic variability in children with T1D. Eveningness preference might contribute to an increased risk of hypoglycemia. Addressing sleep patterns and chronotypes can be crucial in management plans for youth with T1D.
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Diabetes Mellitus Tipo 1 , Hipoglicemia , Criança , Humanos , Adolescente , Diabetes Mellitus Tipo 1/complicações , Ritmo Circadiano , Estudos Transversais , Automonitorização da Glicemia , Glicemia , Sono , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Unlike in Western countries, the use of diabetes technologies has been limited in Turkey, or at least until the last few years. This low adoption frequency may be attributed to the lack of experience of pediatric diabetes teams in working with new technologies. The aim of this study is to evaluate the attitudes, experiences and self-efficacies of pediatric endocrinology fellows and attending physicians in terms of use of continuous subcutaneous insulin infusion (CSII) therapy and continuous glucose monitoring (CGM) systems. METHODS: The questionnaire used in this study consisted of 63 questions including 10 questions evaluating the demographic characteristics and experience of the participants, 33 Likert-type questions related to self-competency, 17 yes/no questions and 3 open-ended questions which evaluated attitudes towards our study area. This questionnaire was e-mailed to pediatric endocrinology fellows and attending physicians working in Turkey. RESULTS: A total of 24 fellows and 28 attending physicians working in the field of pediatric endocrinology participated in the survey. Of the respondents, 61% reported that there was no formal training curriculum regarding diabetes technology at their institutions. The mean scores obtained from the Likert scale questions measuring self-competency in using CSII and CGM were 3.8 and 3.3 out of 5, respectively. Of the respondents, 55% judged themselves to be under-skilled in interpreting pump reports while 39% of the respondents reported themselves as being under-skilled in interpreting CGM reports. CONCLUSIONS: While it is true that training programs for using diabetes technology have been established by the National Pediatric Endocrinology Association in Turkey, the development of a specific curriculum for institutions that provide pediatric endocrinology fellowship training in this framework will increase the self-confidence of pediatric endocrinologists in this matter and this will ultimately contribute to the improvement of the metabolic control of children with diabetes.
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Diabetes Mellitus , Médicos , Atitude , Glicemia/metabolismo , Automonitorização da Glicemia , Criança , Diabetes Mellitus/terapia , Humanos , Insulina , TurquiaRESUMO
AIM: Obesity is a more common and important health problem in childhood. We aimed to determine sociodemographic and clinical factors contributing weight loss. MATERIAL AND METHODS: Medical records of 120 obese patients (6-18 years old) applied at least twice for follow-up between 2012 (January)-2016 (September) were reviewed. Age, gender, socioeconomic status, family obesity, comorbidities, medications, operations, exercise frequency, screen time, physical examination findings and biochemical/hormone values [thyroid hormone, fasting insulin/glucose, cholesterol levels, Homeostasis model assesment insulin resistance (HOMA-IR), oral glucose tolerance test results (if applied) were recorded. Patients with a difference between the initial and last body mass index standart deviation higher than -0.2 were defined as "the good losing weight" group; the rest as "the poorly losing weight" group. The SPSS 22.0 program was used for analyzes. RESULTS: Puberty stage showed a significant difference (p=0,019); 65% of patients in the poorly losing weight group but 54% of other group were at stage 4-5. The initial body mass index standart deviation and exercise frequency were higher in the good losing weight group, the last measured body mass index standart deviation was lower (p=0). In the other group, baseline HOMA-IR was higher (p=0.037); there were more metformin-initiated patients but the difference was not significant. CONCLUSION: We observed that exercise frequency was higher in cases with good weight loss; therefore, we consider that increasing physical activity is an important step. Other crucial outcomes are that the initial body mass index standart deviation is higher while HOMA-IR is lower in those cases and that puberty stage is higher in poorly weight losing patients.
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Hyperglycemia has become an important risk factor for mortality and morbidity in the neonatal period, especially with increased survival rates of very low birth weight neonates. Hyperglycemia in the neonatal period develops as a result of various mechanisms including iatrogenic causes, inability to supress hepatic glucose production, insulin resistance or glucose intolerance, specifically in preterm neonates. Initiation of parenteral or enteral feeding in the early period in preterm babies increases insulin production and sensitivity. The plasma glucose is targeted to be kept between 70 and 150 mg/dL in the newborn baby. While a blood glucose value above 150 mg/dL is defined as hyperglycemia, blood glucose values measured with an interval of 4 hours of >180-200 mg/dL and +2 glucosuria require treatment. Although glucose infusion rate is reduced in treatment, use of insulin is recommended, if two blood glucose values measured with an interval of 4 hours are >250 mg/dL and glucosuria is present in two separate urine samples.
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McCune-Albright Syndrome is a rare syndrome characterized with excessive function of peripheral endocrine organs and activating mutations of the stimulatory G protein alpha subunit are involved in the pathogenesis. The three main findings of the disease include hyperpigmented café au lait spots, fibrous dysplasia and increased endocrine functions and excessive secretion of growth hormone is observed in 21% of the patients. Clinical signs may be missed in these patients because of precocious puberty and craniofacial fibrous dysplasia. Since radiotherapy causes to sarcomatous changes and transsphenoidal surgery may cause to severe thickening in the cranial bones, they are not appropriate treatment options and medical treatment is recommended. Bromocriptine, cabergoline and octreotide or different combinations of these drugs are used in treatment and pegvisomant has also been used in recent years. Here, we present a male patient aged 12 years and 7 months to show gigantism as a rare clinical reflection of McCune-Albright Syndrome with an excessive height (197 cm), café au lait spots, growht hormone levels which could not be supressed with oral glucose tolerance test and increased prolactin levels.
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46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY karyotype. Most of the studied cases presented with leak of secondary sex characteristics and primary amenorrhea during adolescence. Laboratory findings reveal hypergonadotropic hypogonadism. Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the SRY gene and diagnosed to have Swyer syndrome. We highlight the importance of karyotype analysis in patients with delayed puberty and primary amenorrhea. Once the diagnosis of 46,XY complete gonadal dysgenesis is established, early laparoscopic removal of the dysgenetic gonads is crucial to prevent the development of gonadal malignancy.
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Deleção de Genes , Disgenesia Gonadal 46 XY/genética , Proteína da Região Y Determinante do Sexo/genética , Adolescente , Castração , Feminino , Disgenesia Gonadal 46 XY/cirurgia , Humanos , Puberdade Tardia/genética , Puberdade Tardia/cirurgia , Cirurgia de Readequação SexualRESUMO
BACKGROUND: 3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical, and sacral anomalies. Five mutations in MASP1, encoding lectin complement pathway enzymes MASP-1 and MASP-3, have thus far been reported to cause 3MC1 syndrome. Only one previously reported mutation affects both MASP-1 and MASP-3, while the other mutations affect only MASP-3. METHODS: We evaluated six unrelated individuals with 3MC1 syndrome and performed Sanger sequencing for all coding exons of MASP1. We also measured complement lectin and alternative pathway activities in an affected individual's serum. RESULTS: We found two novel splice site mutations, c.1012-2A > G in one and c.891 + 1G > T in two probands, and three novel missense mutations, c.1451G > A (p.G484E), c.1657G > A (p.D553N), and c.1987G > T (p.D663Y). Missense mutations affect only MASP-3, while splice site mutations affect both MASP-1 and MASP-3. In a proband who is homozygous for c.891 + 1G > T, we detected a total lack of lectin complement pathway activity and a 2.5-fold lower alternative pathway activity. The phenotype observed in patients whose both MASP-1 and MASP-3 are affected and in those whose only MASP-3 is affected does not appear to be different. We observed structural brain abnormalities, neonatal tooth, a vascular anomaly and a solid lesion in liver as novel phenotypic features of 3MC1 syndrome. CONCLUSION: Novel mutations and additional phenotypic features expand the genotypic and phenotypic spectrum of 3MC1 syndrome. Although patients with MASP-1 dysfunction in addition to disrupted MASP-3 have an altered complement system, their disease phenotype is not different from those having only MASP-3 dysfunction.
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Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Serina Proteases Associadas a Proteína de Ligação a Manose/genética , Mutação/genética , Fenótipo , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Síndrome , Adulto JovemRESUMO
The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearing loss. The need to perform a karyogram analysis in cases presenting with these features is emphasized.
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Anormalidades Múltiplas/genética , Transtornos Cromossômicos/genética , Nanismo/genética , Deficiência Intelectual/genética , Adolescente , Criança , Deleção Cromossômica , Transtornos Cromossômicos/patologia , Cromossomos Humanos Par 18/genética , Feminino , Humanos , Prognóstico , SíndromeRESUMO
OBJECTIVE: To investigate the frequency and effects of vitamin D deficiency in children with type 1 diabetes (T1D) in a region which is known to have a high rate of vitamin D deficiency among adolescents. METHODS: In this prospective cross-sectional study, 120 children and adolescents with T1D (55 girls and 65 boys) aged 3-20 years were evaluated. Serum 25-hydroxyvitamin D [25(OH)D], parathormone (PTH), and alkaline phosphatase (ALP) levels were measured. Hemoglobin A1c levels and daily insulin requirement were also evaluated. Classification of vitamin D status was made according to the American Academy of Pediatrics (AAP)/LWEPS's recommendations. The patients were divided into 2 groups according to their vitamin D status and also according to the season of the year in which 25(OH)D sampling was done. RESULTS: Serum 25(OH)D levels revealed vitamin D deficiency or insufficiency in 38% of the patients. Higher PTH levels were found in the patient group whose mean 25(OH)D level was < 20 ng/mL as compared to the group whose mean 25(OH)D level was > 20 ng/mL (p < 0.05). Only 11% of patients had secondary hyperparathyroidism. The 25(OH)D levels of patients whose serum samples were taken in summer and spring months were significantly different (p < 0.05). There were no significant correlations between 25(OH)D level and daily insulin dose. CONCLUSION: Although we could not show a significant association between vitamin D deficiency and metabolic parameters, the frequency of vitamin D deficiency in T1D children is substantial. Vitamin D status should be assessed also in patients who do not have signs of rickets.
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Diabetes Mellitus Tipo 1/sangue , Deficiência de Vitamina D/etiologia , Adolescente , Fosfatase Alcalina/sangue , Criança , Pré-Escolar , Estudos Transversais , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/epidemiologia , Feminino , Humanos , Masculino , Hormônio Paratireóideo/sangue , Prevalência , Estudos Prospectivos , Estações do Ano , Turquia/epidemiologia , Vitamina D/análogos & derivados , Vitamina D/sangue , Vitamina D/uso terapêutico , Deficiência de Vitamina D/epidemiologia , Adulto JovemRESUMO
SUMMARY: AIM-OBJECTIVE: Vitamin D deficiency and rickets in developing countries continues to be a major health problem. Additionally, the increase of cases of rickets in children of some ethnic groups in the United States and European countries has provided this issue to be updated. Obviously, powerful strategies are necessary to prevent vitamin D deficiency nation-wide. In 2005, a nationwide prevention program for vitamin D deficiency was initiated, recommending 400 IU vitamin D per a day. This study was designed to evaluate the efficacy of the prevention program. METHODS: Eighty-five infants who were recalled as part of the national screening program for congenital hypothyroidism between February 2010 and August 2010 at Kocaeli University Children's Hospital were evaluated in terms of their vitamin D status as well. All babies had been provided with free vitamin D (Cholecalciferol) solution and recommended to receive 400 IU (3 drops) daily. Information regarding the age at start of supplementation, the dosage and compliance were obtained from the mothers with face-to-face interview. Serum 25-hydroxy vitamin D (25-OH-D), alkaline phosphatase (AP), parathormone (PTH) levels were measured. RESULTS: The mean age at which Vitamin D3 supplementation began was 16.5 ± 20.7 (3-120) days. Ninety percent of cases (n:76) were receiving 3 drops (400 IU) vitamin D3 per day as recommended; 70% of cases (n:59) were given vitamin D3 regularly, the remainder had imperfect compliance. Among those children who are older than 12 months, only 20% continued vitamin D supplementation. No subject had clinical signs of rickets. The mean 25-OH-D level was 42,5 ± 25,8 (median: 38.3) ng/ml. Ten subjects (12%) had their serum 25-OH-D levels lower than 20 ng/ml (6 between 15-20 ng/ml, 3 between 5-15 ng/ml and only one < 5 ng/ml). CONCLUSIONS: 400 U/day vitamin D seems adequate to prevent vitamin D deficiency. However, we believe that the program for preventing vitamin D deficiency in Turkey, needs to be reinforced to start immediately after birth, and to continue beyond 1 year of age at 400U regular daily dosage.