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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/29217500/peripheral-neuropathy-as-a-complication-of-diabetic-ketoacidosis-in-a-child-with-newly-diagnosed-diabetes-type-1-case-report
#1
Marta Baszyńska-Wilk, Marta Wysocka-Mincewicz, Anna Świercz, Jolanta Świderska, Magdalena Marszał, Mieczysław Szalecki
BACKGROUND: Neurological complications of diabetic ketoacidosis are considered to be very serious clinical problem. The most common complication is cerebral edema. However this group includes also less common syndromes such as ischemic or hemorrhagic stroke, cerebral venous and sinus thrombosis or very rare peripheral neuropathy. CASE REPORT: We present a case of 9-year old girl with new onset type 1 diabetes, diabetic ketoacidosis, cerebral edema, multifocal vasogenic brain lesions and lower limbs peripheral paresis...
December 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29217499/severe-early-onset-obesity-due-to-a-novel-missense-mutation-in-exon-3-of-leptin-gene-in-an-infant-from-northwest-india
#2
Devi Dayal, Keerthivasan Seetharaman, Inusha Panigrahi, Muthuvel Balasubramaniyan, Ashish Agarwal
Monogenic obesity caused by mutations in one of the several genes involved in the control of hunger and satiety is a rare cause of early-onset obesity (EOO). The most common of the single gene alterations affect the LEP gene resulting in congenital leptin deficiency that manifests as intense hyperphagia, EOO and severe obesity associated hormonal and metabolic alterations. Only eight mutations of LEP gene associated with congenital leptin deficiency in humans have been described. In this study, we report a novel homozygous missense mutation in exon 3 of the LEP gene (chr7:127894610;c...
December 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29217498/sirolimus-induced-hepatitis-in-two-cases-with-hyperinsulinemic-hypoglycemia
#3
Belma Haliloğlu, Heybet Tüzün, Sarah E Flanagan, Muhittin Çelik, Avni Kaya, Sian Ellard, Mehmet Nuri Özbek
BACKGROUND: Sirolimus has been described for the treatment of the diffuse form of congenital hyperinsulinism (CHI) unresponsive to diazoxide and octreotide without severe side effect. CASE REPORT: Two newborns with CHI due to homozygous ABCC8 gene mutations were started sirolimus due to unresponsive to medical treatment on day 21 and 17, and good response was observed. At follow-up, liver enzyme levels increased at 10 and 2 month of therapy in case 1 and 2, respectively (serum sirolimus level 1...
December 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29175807/obesity-is-a-strong-risk-factor-for-the-development-of-restless-legs-syndrome-and-poor-sleep-quality-in-children-and-adolescents
#4
Rıza Taner Baran, Müge Atar, Özgür Pirgon, Serkan Filiz, Meral Filiz
OBJECTIVE: Adult epidemiological studies have suggested that the rate of restless legs syndrome (RLS) in the general population may range from 5% to 15%. The aim of this study was to investigate the frequency of RLS in a community sample of obese adolescents aged 10-16 years and its association with sleep quality and health-related glucose metabolism markers. METHODS: The study group comprised 144 obese and overweight children aged 10-16 years [mean body mass index (BMI): 30...
November 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29175806/the-distribution-of-different-types-of-diabetes-in-childhood-a-single-center-experience
#5
Belma Haliloğlu, Saygın Abali, Fuat Buğrul, Enes Çelik, Serpil Baş, Zeynep Atay, Tülay Güran, Serap Turan, Abdullah Bereket
OBJECTIVE: Type 1 diabetes (T1D) is the most common cause of diabetes in childhood but type 2 diabetes (T2D) and maturity onset diabetes of the young (MODY) are emerging and noteworthy causes of diabetes in youths. The aim of the study is to determine the distribution, trends and clinical features of the different types of diabetes in childhood in a tertiary single-center. METHODS: Children and adolescents aged 0-18 years who were diagnosed "diabetes/persistent hyperglycemia" between January 1999 and December 2016, were reviewed...
November 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29082896/optimal-cut-off-points-of-fasting-and-post-glucose-stimulus-surrogates-of-insulin-resistance-as-predictors-of-metabolic-syndrome-in-adolescents-according-to-several-definitions
#6
Mónica Ivette Piña-Agüero, Aranza Zaldivar-Delgado, Alejandra Salas-Fernández, Azucena Martínez-Basila, Mariela Bernabe-García, Jorge Maldonado-Hernández
OBJECTIVE: The aim of this study was to determine optimal cut-off points of fasting and post-glucose stimulus surrogates of insulin resistance to predict metabolic syndrome in adolescents according to several definitions. METHODS: 155 adolescents living in Mexico City were enrolled during 2011 and 2012. Waist circumference and blood pressure were recorded. Subjects received an oral glucose load of 1.75g per kg up to a maximum dose of 75g. Blood samples were drawn at baseline and 120 minutes...
October 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29082895/time-trends-regional-variability-and-seasonality-regarding-the-incidence-of-type-1-diabetes-mellitus-in-romanian-children-aged-0-14-years-between-1996-and-2015
#7
Adrian Vlad, Viorel Serban, Anders Green, Soren Moller, Mihaela Vlad, Bogdan Timar, Alexandra Sima
OBJECTIVE: The incidence of type 1 diabetes mellitus in children is highly variable in the world. The aim of our study was to analyze the evolution of the incidence of childhood type 1 diabetes in Romania between 1996 and 2015, and to search for differences amongst age groups, gender, geographic regions and month of diagnosis. METHODS: All new cases of type 1 diabetes, aged <15 years, diagnosed by two independent sources, were included in the study. The statistical methods included modeling of the incidence rates, adjusting for age groups, sex, calendar year, geographic region and seasonality...
October 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29082894/a-study-of-the-relationship-between-cystatin-c-and-metabolic-bone-disease-in-preterm-infants
#8
Sabriye Korkut, Şeyma Memur, Hülya Halis, Osman Bastuğ, Levent Korkmaz, Ahmet Özdemir, Tamer Güneş, Mehmet Adnan Öztürk, Selim Kurtoğlu
OBJECTIVE: Cystatin C (CysC) is commonly used as a marker of renal failure. The aim of this study was to investigate serum CysC levels in osteopenia of prematurity (OP) and determine whether CysC could be safely used as a marker of renal insufficiency in infants with OP. METHODS: The study included 50 preterm infants (≤ 32 gestational weeks). Calcium (Ca), phosphorous (P), and alkaline phosphatase (ALP) serum levels were measured in postnatal week 9, and bone density was measured concurrently by quantitative ultrasonography...
October 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29082893/one-novel-2-43kb-deletion-and-one-single-nucleotide-mutation-of-the-insr-gene-in-a-chinese-neonate-with-rabson-mendenhall-syndrome
#9
Xiang Chen, Huijun Wang, Bingbing Wu, Xinran Dong, Bo Liu, Hongbo Chen, Yulan Lu, Wenhao Zhou, Lin Yang
Mutations in insulin receptor gene (INSR) are responsible for Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). These two diseases are both characterized as insulin resistance. A Chinese neonate suffering from glucose homeostasis, hyperinsulinemia, dry skin, heavy hair, elevated testosterone and growth retardation was recruited. To search for candidate point mutations, small insertions or deletions and copy number variants, 2742 inherited disease-gene panel sequencing was performed. One pathogenic mutation (c...
October 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29082892/retinal-neural-and-vascular-structure-in-isolated-growth-hormone-deficiency-children-and-evaluation-of-growth-hormone-treatment-effect-on-retina
#10
Özge Yüce, Nuriye Gökçen Yalçın, Aysun Bideci, Esra Döğer, Hamdi Cihan Emeksiz, Murat Hasanreisoğlu, Zeynep Aktaş, Orhun Çamurdan, Peyami Cinaz
OBJECTIVE: Our aim was to evaluate neural and vascular retinal morphology of children with isolated growth hormone deficiency (GHD) and to determine any retinal changes of GH treatment. METHODS: Twenty-eight children with isolated GHD and 53 age-, gender- and body mass index-matched healthy volunteers were enrolled in this prospective study. The retinal nerve fibre layer(RNFL), macular thickness(MT) were measured, as well as intraocular pressure(IOP) . The number of retinal vascular branching points were calculated...
October 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29022558/klinefelter-syndrome-in-childhood-variability-in-clinical-and-molecular-findings
#11
Neşe Akcan, Şükran Poyrazoğlu, Firdevs Baş, Rüveyde Bundak, Feyza Darendeliler
OBJECTIVE: Klinefelter syndrome (KS) is the most common (1/500-1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of the children with KS to assess the age and reason for diagnosis, clinical and laboratory findings, as well as the presence of comorbidities. METHODS: Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting symptoms, comorbid problems, height, weight, pubertal status, biochemical findings, hormone profiles, bone mineral density, and karyotype were evaluated...
October 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29022557/two-childhood-pheochromocytoma-cases-due-to-von-hippel-lindau-disease-one-associated-with-pancreatic-neuroendocrine-tumor-a-rare-manifestation
#12
Aydilek Dağdeviren Çakır, Hande Turan, Ayça Aykut, Asude Durmaz, Oya Ercan, Olcay Evliyaoğlu
(VHL) disease is an autosomal dominantly inherited disorder characterized by hemangioblastomas of retina and central nervous system (CNS); renal cysts, clear cell carcinoma; PCC; endolymphatic sac tumors; cystadenomas of the epididymis in males, broad ligament of uterus in females; pancreatic cysts, cystadenomas and neuroendocrine tumors. We here report two cases of VHL disease presented with PCC as the first manifestation. Hemangioblastoma of CNS in the first case and PNET in the second case developed during follow- up and led to the diagnosis of VHL disease...
October 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28958983/the-association-between-maternal-subclinical-hypothyroidism-and-growth-development-and-childhood-intelligence-a-meta-analysis
#13
Yahong Liu, Hui Chen, Jing Chen, Fupin Li
OBJECTIVES: To explore the association between maternal subclinical hypothyroidism (SCH) in pregnancy and the development of their children. METHODS: Using RevMan 5.3 software, we performed a meta-analysis of cohort studies published from inception to May 2017, focusing on the association between maternal SCH in pregnancy and childhood growth, development and intelligence. Sources included the Cochrane Library, Pub-Med, Web of Science, CNKI, and Wan Fang Data. RESULTS: We included a total of 15 cohort studies involving 1,896 pregnant women with SCH...
September 29, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28943514/a-novel-kcnj11-mutation-associated-with-transient-neonatal-diabetes
#14
Evangelia Gole, Stavroula Oikonomou, Sian Ellard, Elisa De Franco, Kyriaki Karavanaki
BACKGROUND: Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes that presents in the first 6 months of life. Activating mutations in the KCNJ11 gene encoding for the Kir6.2 subunit of the KATP channel can lead to transient (TNDM) or permanent neonatal diabetes mellitus (PNDM). CASE REPORT: A female infant presented at the 22nd day of life with severe hyperglycemia and ketoacidosis (glucose: 907mg/dl, blood gas pH: 6.84, HCO3: 6mmol/l). She was initially managed with intravenous (IV) fluids and IV insulin...
September 25, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28943513/neonatal-diabetes-two-cases-with-isolated-pancreas-agenensis-due-to-homozygous-ptf1a-enhancer-mutations-and-one-with-dend-syndrome-due-to-kcnj11-mutation
#15
Olcay Evliyaoğlu, Oya Ercan, Emel Ataloğlu, Ümit Zübarioğlu, Bahar Özcabı, Aydilek Dağdeviren, Hande Erdoğan, Elisa De Franco, Sian Ellard
Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first 6 months of life. Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the PTF1A enhancer and one with DEND syndrome (developmental delay, epilepsy, and neonatal diabetes) due to a KCNJ11 mutation. The two cases with mutations in the distal enhacer of PTF1A had a homozygous g.23508363A>G and a homozygous g.23508437A>G mutation respectively. Previous functional analysis showed that these mutations can decrease expression of PTF1A which is involved in pancreas development...
September 25, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28943512/prevalence-of-znt8-antibody-in-turkish-children-and-adolescents-with-new-onset-type-1-diabetes
#16
Selin Elmaoğulları, Seyit Ahmet Uçaktürk, Şehri Elbeg, Esra Döğer, Meltem Tayfun, Fatih Gürbüz, Aysun Bideci
OBJECTIVE: Zinc transporter 8 protein (ZnT8) is a transmembranic protein organizing the zinc transfer to insulin vesicles. Antibodies formed against ZnT8 (ZnT8A) are regarded as an independent autoimmunity demonstrator in type 1 diabetes (T1D) diagnosis Investigation of ZnT8ab prevalence in Turkish children with new onset T1D was planned in this study. METHODS: 84 patients between 1-18 years of age diagnosed with T1D between February 2015- March 2016 and the control group consisting of 50 healthy children without any autoimmune diseases were included in the study...
September 25, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28943511/can-pediatric-surgeons-become-truly-experienced-for-thyroid-surgery-on-a-universal-scale
#17
İrem İnanç, Atakan Sezer, Mustafa İnan
No abstract text is available yet for this article.
September 25, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28901944/vitamin-d-deficiency-in-pregnant-women-and-their-infants
#18
Abdurrahman Avar Özdemir, Yasemin Ercan Gündemir, Mustafa Küçük, Deniz Yıldıran Sarıca, Yusuf Elgörmüş, Yakup Çağ, Günal Bilek
OBJECTIVE: Vitamin D deficiency is a serious health problem although the improvement in socio-economic status in Turkey. The aim of this study was to evaluate the maternal vitamin D status and their effect on neonatal vitamin D status after support program for pregnant women and to detect risk factors for vitamin D deficiency in Bağcılar region in İstanbul. METHODS: A total of 97 pregnant women and 90 infants were included in this study between January and October 2016...
September 13, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28901943/a-meta-analysis-and-the-evaluation-of-trends-in-obesity-prevalence-among-children-and-adolescents-aged-5-19-in-turkey-1990-through-2015
#19
Züleyha Alper, İlker Ercan, Yeşim Uncu
Objective Obesity in childhood and adolescence period, is one of the most serious public health problems with it's remarkable increased prevalence and it is correlated with the increased adult morbidity and mortality due to its causing noncommunicable diseases such as diabetes and hypertension. This study aims to identify the secular trend by performing meta-analysis of childhood and adolescent obesity prevalence studies conducted in different regions of our country since 1990 to 2015. Methods Uludag University Library Database was searched for relevant articles published prior to March 2017...
September 13, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28874334/girl-with-idiopathic-childhood-hypercalcemia-reveals-new-disease-causing-cyp24a1-mutation
#20
Jens Otto Broby Madsen, Sabrina Sauer, Bodo Beck, Jesper Johannesen
CONTEXT: Idiopathic Infantile Hypercalcemia (IHH) was associated with vitamin-D supplementation in the 1950's. 50 years later mutations in the CYP241A gene, involved in the degradation of vitamin-D, have been identified as being a part of the etiology. CASE DESCRIPTION: We hereby report a case of a 21 months old girl initially hospitalized due to excessive consumption of water and behavioral difficulties. Blood tests showed hypercalcemia, borderline high vitamin-D levels, and renal ultrasound revealed medullary nephrocalcinosis...
September 6, 2017: Journal of Clinical Research in Pediatric Endocrinology
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