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Journal of Pediatric Endocrinology & Metabolism: JPEM

Chrysoula Drosatou, Elpis-Athina Vlachopapadopoulou, Monika Bullinger, Julia Quitmann, Neuza Silva, Georgia Salemi, Ioanna Pavlopoulou, Stefanos Michalacos, Konstantinos Tsoumakas
Background The Quality of Life in Short Stature Youth (QoLISSY) questionnaire is a condition-specific instrument for measuring the health-related quality of life (HRQoL) in short statured children/adolescents from patients' and parents' perspectives. The aim of this study was to investigate the psychometric properties of the Greek version of the QoLISSY questionnaire. Methods The original European QoLISSY scales were translated into Greek following the guidelines for linguistic validation and applied to 184 dyads of children 8-18 years old and their parents, as well as to 14 parents of children 4-7 years old in Greece...
February 9, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Konstantinos Iakovou, Anna Madoglou, Ioannis Monopolis, Kleopatra Schulpis
Background Phenylketonuria (PKU) is an inherited metabolic disorder characterized by high levels of phenylalanine in the blood and brain, resulting in mental retardation, etc. Dietary treatment with low phenylalanine is the common treatment for this disease. Patients with other metabolic disorders, such as diabetes mellitus, were reported to have a higher percentage of quality-of-life damage (QLD) and social discriminations (SDs). Methods To evaluate the degree (%) of maternal QLD and SD in relation to their educational status and place of living during the participation of their PKU children in public events, 110 mothers of PKU children with an average age of 25...
February 7, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Louise Apperley, Dinesh Giri, Jayne A L Houghton, Sarah E Flanagan, Mohammed Didi, Senthil Senniappan
Background Congenital hyperinsulinism (CHI) occurs due to an unregulated insulin secretion from the pancreatic β-cells resulting in hypoglycaemia. Causative mutations in multiple genes have been reported. Phenotypic variability exists both within and between different genetic subgroups. Case presentation A male infant born at 35+6 weeks' gestation with a birth weight of 4.3 kg [+3.6 standard deviation score (SDS)] had recurrent hypoglycaemic episodes from birth. Biochemical investigations confirmed a diagnosis of CHI...
February 7, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Thomas E Forman, Anna-Kaisa Niemi, Priya Prahalad, Run Zhang Shi, Laura M Nally
Background Neonatal severe hyperparathyroidism (NSHPT) is commonly treated with either parathyroidectomy or pharmacologic agents with varying efficacy and numerous side effects. Reports of using cinacalcet for NSHPT have increased, however, the effective dose for pediatric patients from the onset of symptoms through infancy has not been established. Case presentation We describe the clinical course of a newborn with a de novo R185Q mutation in the calcium-sensing receptor (CASR) gene, causing NSHPT. The infant received cinacalcet from the first days of life until 1 year of age...
February 7, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Udayan Bhattacharya, Amar K Chandra
Background To compare the state of iodine nutrition among school age children (SAC) in high- (HSGs) and low-socioeconomic groups (LSGs) during a post iodation scenario in Kolkata. Methods Clinical examinations of the goiter, median urinary iodine (MUI), mean urinary thiocyanate (MUSCN) in SAC (6-12 years) from both sexes in the different socioeconomic groups were carried out and the iodine content of edible salt was measured. Results A total of 5315 SAC, of which 2875 SAC were from a HSG and another 2440 SAC from an LSG were clinically examined for goiter...
February 2, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Dan Yao, Chai Ji, Weijun Chen, Mingyan Li, Zheng-Yan Zhao
Background The objective of this study was to evaluate the physical growth and development characteristics of children with Williams syndrome (WS) aged 0-24 months, and provide help for early diagnosis of WS. Methods A total of 32 cases of children (17 males and 15 females) aged 0-24 months who were diagnosed with WS were enrolled between 2008 and 2017. These children were divided into four different groups: 1-6 months (six cases), 7-12 months (eight cases), 12-18 months (nine cases) and 19-24 months (nine cases)...
February 2, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Amna Jawaid, Arjumand Sohaila, Nadia Mohammad, Unaib Rabbani
Background As per the International Society for Pediatrics and Adolescent Diabetes (ISPAD) census, diabetic ketoacidosis (DKA) is the most frequent cause of diabetes-related death. In developing countries, DKA-related mortality rate ranges from 6% to 24% (Onyiriuka AN, Ifebi E. Ketoacidosis at diagnosis of type 1 diabetes in children and adolescents: frequency and clinical characteristics. J Diabetes Metab Disord 2013;12:47) in contrast to 0.15%-0.31% in the Western world (Poovazhagi V. Risk factors for mortality in children with diabetic ketoacidosis from developing countries...
January 30, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Andrea J Arcari, Analía V Freire, María E Escobar, María G Ballerini, María G Ropelato, Ignacio Bergadá, Mirta G Gryngarten
Background Puberty is associated with a physiological decline in insulin sensitivity (IS). Overweight (OW) and obesity (OB) are common among girls with central precocious puberty (CPP). CPP is considered a risk factor for metabolic diseases. The aim of this study was to assess surrogate measures of IS, body mass index (BMI) and other metabolic parameters in CPP girls at diagnosis and during treatment with gonadotropin-releasing hormone analogues (GnRHa). Methods We present a prospective longitudinal study of CPP girls...
January 30, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Ying Guo, Yonggang Wang, Ming Ni, Yazhuo Zhang, Liyong Zhong
Objective To compare the effects of mass effects in situ (MEIS) and after neurosurgery (ANS) on neuroendocrine function in children with craniopharyngioma. Methods We retrospectively investigated 185 cases of children with craniopharyngioma who underwent neurosurgical treatment at the Beijing Tiantan Hospital from 2011 to 2016. The neuroendocrine function of patients was compared before and after tumor removal. Results Compared with the MEIS, the incidence of growth hormone insulin-like growth factor 1 axis dysfunction (47...
January 29, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Daniel S Gill, James E Greening, Trevor A Howlett, Miles J Levy, Savitha D Shenoy
Background The objective of the study was to evaluate the long-term outcome of paediatric-onset hyperthyroidism with follow-up into adulthood and to identify any early predictors of a need for definitive therapy (DT). Methods In a retrospective analysis of patients diagnosed with hyperthyroidism under the age of 18 years and at follow-up, a comparison was made by categorising them into those who underwent definitive therapy (DT group), i.e. thyroidectomy/radioactive iodine (RAI), those who remained on antithyroid drugs (ATD) (CBZ group) and those who had complete remission (RE group)...
January 26, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Silvia Baggio, Rossana Di Paola, Stefano Zaffagnini, Stefania Fino, Ricciarda Raffaelli, Massimo Franchi
Background To develop a diagnostic assessment tool, using clinical, biochemical and sonographic markers, to help clinicians in the differential diagnosis of functional oligomenorrhea (FO) and endocrine-metabolic oligomenorrhea (EMO). Methods Sixty-two adolescents with oligomenorrhea without evident hormonal imbalances or severe energy deficit were selected. They were divided into two groups (EMO and FO) and they all underwent the following assessment: physical examination (height, weight, presence of hirsutism or acne), blood exams and transabdominal ultrasonography...
January 26, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Firdevs Aydın, Nelgin Gerenli, Fatma Dursun, Tülay Öztürk Atasoy, Sevinç Kalın, Heves Kırmızıbekmez
Background Diabetes and hepatosteatosis are dramatically increasing in childhood. Non-alcoholic fatty liver disease (NAFLD) is defined as a common disorder in adulthood, especially with type-2 diabetes and metabolic syndrome, while very few studies are available on liver health in children with type-1 diabetes. Patients and methods One hundred and ten (52 males and 58 females) patients with type-1 diabetes aged between 8 and 18 years were examined. The lipid profile, liver enzymes and hepatobiliary ultrasound findings of patients were investigated in terms of hepatopathies...
January 26, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Krishna Kishore Umapathi, Aravind Thavamani, Sadeer Al-Kindi
No abstract text is available yet for this article.
January 25, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Tong Wooi Ch'ng, Vivian L Chin
Background Resistance to thyroid hormone (RTH) commonly presents with goiter, attention deficit hyperactivity disorder (ADHD), short stature and tachycardia. However, due to its variable presentation with subtle clinical features, a third of the cases are mistreated, typically as hyperthyroidism. Case presentation A 15-year-old female with ADHD and oligomenorrhea was initially diagnosed as Hashimoto's thyroiditis but found to have a rare heterozygous mutation in c803 C>G (p Ala 268 Gly) in the THRβ gene, confirming resistance to thyroid hormone...
January 25, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Masanori Adachi, Maki Fukami, Masayo Kagami, Noriko Sho, Yuichiro Yamazaki, Yukichi Tanaka, Yumi Asakura, Junko Hanakawa, Koji Muroya
Background Silver-Russell syndrome (SRS) is characterized by growth retardation and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients. Case presentation The patient was born at 39 weeks with a birth weight of 1344 g. Subtle clitoromegaly warranted a thorough evaluation, which disclosed 46,XY karyotype, bilateral undescended testes, and a rudimentary uterus. Because of severe under-virilization, the patient was assigned as female. Failure to thrive, macrocephaly, and body asymmetry led to the diagnosis of SRS, confirmed by marked hypomethylation of H19/IGF2 intergenic differentially methylated region (IG-DMR)...
January 24, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Thais H Inoue-Lima, Gabriela A Vasques, Renata C Scalco, Marilena Nakaguma, Berenice B Mendonca, Ivo J P Arnhold, Alexander A L Jorge
Background When evaluating peripubertal short stature patients, the interpretation of insulin-like growth factor 1 (IGF-1) levels based on chronological age (CA) can be inaccurate due to the influence of sex steroids and, presently, there is no evidence to support the assessment of IGF-1 values according to bone age (BA) and pubertal status (PS). Our objective was to assess the discriminatory performance of IGF-1 levels based on CA, BA and PS in the diagnosis of growth hormone (GH) deficiency. Methods We evaluated IGF-1 levels from 154 peripubertal short stature patients classified as GH deficient (GHD, n=23) or non-GHD (n=131)...
January 24, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Marcello Scala, Andrea Accogli, Anna Maria Elsa Allegri, Elisa Tassano, Mariasavina Severino, Giovanni Morana, Mohamad Maghnie, Valeria Capra
Background The genetic causes of abnormal pituitary development have been extensively studied in the last few years. ROBO1 is involved in neurogenesis and axon guidance. Loss-of-function variants in ROBO1 have been associated with pituitary stalk interruption syndrome (PSIS), suggesting that its haploinsufficiency could impair the guidance of hypothalamic axons to the pituitary gland leading to developmental abnormalities. Case presentation We report a 4.5-year-old girl with anterior pituitary hypoplasia and pituitary stalk duplication in the ventral-dorsal direction...
December 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Teresa Maria Bianchini de Quadros, Alex Pinheiro Gordia, Alynne Christian Ribeiro Andaki, Edmar Lacerda Mendes, Jorge Mota, Luciana Rodrigues Silva
Background Anthropometric indicators are associated with cardiometabolic risk factors (CMRF), but there is no consensus as to which indicator is the most suitable to screen for clustered CMRF. This study aimed to evaluate the utility of five anthropometric indicators to screen for clustered CMRF in children and adolescents. Methods A cross-sectional study was conducted in 1139 schoolchildren aged 6-17 years from Northeastern Brazil. Body weight, height, waist circumference (WC) and subscapular (SSF) and triceps skinfold thickness (TSF) were measured...
December 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Francesco Porta, Marta Busso, Sara Giorda, Marco Spada
No abstract text is available yet for this article.
December 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Danielle N Moyer, Kara J Connelly, Amy L Holley
Background Transgender and gender nonconforming (TGNC) youth are at higher risk for anxiety and depression than their peers. The referral rate for those seeking specialty medical care has rapidly increased in recent years. This paper examines the use of brief screening tools with clear cutoffs to assist physicians in rapidly identifying TGNC youth in acute distress. Methods A retrospective chart review was conducted for patients aged 11-18 years being treated in a pediatric endocrinology clinic for gender dysphoria...
December 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
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