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Journals Pediatric Endocrinology Review...

Pediatric Endocrinology Reviews : PER

https://read.qxmd.com/read/32780959/letters-to-the-editor-why-are-children-with-klinefelter-syndrome-tall
#1
LETTER
Alma Kamar-Matias, Zvi Laron
No abstract text is available yet for this article.
August 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32780958/genetic-and-environmental-factors-in-the-pathophysiology-of-hashimoto-s-thyroiditis
#2
JOURNAL ARTICLE
Maria Lucia Sur, Remus Gaga, Călin Lazăr, Cecilia Lazea
Finding multiple familial patients with Hashimoto thyroiditis in our clinic a search in the literature confirms that genetic factors, in addition to environmental factors, seem involved in the etiology of this disease.
August 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32780957/new-insights-into-pheochromocytoma-biology-the-role-of-the-insulin-like-growth-factor-1-igf1-system
#3
REVIEW
Patricia A Pennisi, María Celia Fernández, Ayelen Martin
Pheochromocytomas/paragangliomas (PCCs/PGLs) are rare neuroendocrine tumors, developed from chromaffin cells derived from the neural crest. From a genetic point of view PCCs/PGLs are divided as sporadic cases, and inherited cases as part of hereditary (familial) syndromes. While the majority is benign, up to 26% of PCCs/PGLs will undergo malignant transformation. Validated prognostic pathological parameters for malignant PCCs/PGLs are still lacking. Signaling that follows the interactions between IGFs and their receptor/s in tumor cells received extensive attention when investigating the role of IGF1R in cancer...
August 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32780956/use-of-growth-hormone-treatment-in-skeletal-dysplasia-a-review
#4
REVIEW
Inderpal Singh Kochar, Rashim Chugh
Skeletal dysplasias are the disorders of the skeletal and cartilaginous tissues. Short stature is the hallmark presentation. Achondroplasia is the commonest skeletal dysplasia. Growth hormone (GH) has been widely used in children with achondroplasia. Various studies have shown 1st year increase in height velocity is about 2-3cm. Apart from achondroplasia, studies have also shown positive effect of GH in hypochondroplasia children. However, in hypochondroplasia GH treatment seems to give better results when administered at puberty...
August 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32780955/dysostosis-multiplex-in-human-mucopolysaccharidosis-type-1-h-and-in-animal-models-of-the-disease
#5
JOURNAL ARTICLE
Christiane S Hampe, Lynda E Polgreen, Troy C Lund, R Scott McIvor
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder, caused by deficiency of α-L-iduronidase, and consequent accumulation of dermatan and heparan sulfates. Severity of the disease ranges from mild (Scheie) to moderate (Hurler-Scheie) to severe (Hurler or MPS-IH). A prominent clinical manifestation of MPS-IH is dysostosis multiplex, a constellation of skeletal abnormalities. We performed a retrospective review comparing manifestations of dysostosis multiplex in patients presenting with MPSIH and relevant animal models...
August 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32780954/impact-of-childhood-obesity-on-bone-metabolism
#6
REVIEW
Maria Adelia Faleiro Santana Silva, Paula Dechichi, Pedro Henrique Justino Oliveira Limirio
Childhood obesity is a considerable worldwide health problem and a major risk factor for several chronic diseases. Fat rich diets result in altered serum levels of lipids, cytokines and hormonal factors, which influence skeletal acquisition and promote microstructural and mechanical behavior changes in bone, especially to bone quality and quantity. However, the possible longterm implications of high-fat diets in childhood are controversial. Despite not fully understood, multiple signaling pathways which support bone tissue homeostasis are altered under hyperlipidic conditions, including RANKL/RANK/OPG, PPAR-γ/Alox5/5-LO, leptin/IGF-I/AGE, ApoE/Lrp-1, Thy-1, IL-6, TNFα, calcium, vitamin D and K metabolism...
August 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32780953/a-unique-presentation-of-xy-gonadal-dysgenesis-in-frasier-syndrome-due-to-wt1-mutation-and-a-literature-review
#7
JOURNAL ARTICLE
Eran Lavi, Mahmud Zighan, Abdulsalam Abu Libdeh, Tehila Klopstock, Ariella Weinberg-Shukron, Pinchas Renbaum, Ephrat Levy-Lahad, David Zangen
Frasier syndrome (FS), a rare disease caused by inherited or de novo mutation in Wilm's Tumor suppressor gene 1 (WT1), is characterized by slow progressive nephropathy, XY gonadal dysgenesis (XY-DSD), and increased risk for gonadal tumors. Early childhood (1-6 years) nephropathy progresses with age to refractory nephrotic syndrome, and end-stage renal failure in late adolescence, when delayed puberty and/or primary amenorrhea are clinically evident. We report a unique case of FS presenting initially with primary amenorrhea at 16 years, without previous or concomitant renal damage...
August 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32780952/the-many-facets-of-vitamin-d-in-the-pediatric-population
#8
REVIEW
Mirjam Ea Scheffer-Rath, Annemieke M Boot
Vitamin D is important for skeletal growth, bone mineralization and dental health. Vitamin D deficiency is reported in many countries, may have several causes and can cause rickets in children. A guideline with recommendations of vitamin D supplementation to prevent nutritional rickets was published recently. The vitamin D receptor is present in many cells of the body including cells of the immune system. Many studies have been published on associations between vitamin D deficiency and extra skeletal effects, mainly without proof of causality in intervention studies...
August 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32780951/for-debate-the-two-paths-of-growth-hormone-excess-and-deficiency-both-roads-uniquely-lead-to-diabetes-mellitus
#9
JOURNAL ARTICLE
Rohan K Henry
Glucose dysregulation (GD), a feature of growth hormone excess, in the setting of acromegaly is well known by clinicians. However, less well known is that GD may be a feature of growth hormone deficiency. The fact that either ends of the spectrum of growth hormone (excess or deficiency) can be associated with diabetes mellitus is unique and clinicians should especially recognize that impaired glucose tolerance and even diabetes mellitus may develop in individuals predisposed to having growth hormone deficiency...
August 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32780950/for-debate-the-controversy-whether-rotavirus-vaccination-attenuates-the-incidence-of-childhood-type-1-diabetes
#10
JOURNAL ARTICLE
Orit Blumenfeld, Christiane S Hampe, Lester Shulman, Rony Chen, Zvi Laron
Recent epidemiological surveys performed in Australia, USA and Israel demonstrate that Rotavirus vaccination correlates with an attenuated prevalence and/or incidence of early childhood diabetes (T1D). Other studies failed to confirm the above.
August 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32741158/meeting-report-updates-in-diagnosis-and-management-of-hyperinsulinism-and-neonatal-hypoglycemia-highlights-from-the-fourth-international-hyperinsulinism-symposium
#11
REVIEW
Katherine Lord, Diva D De León
Hypoglycemia remains a significant cause of morbidity in infants and children. Up to 50% of children with hypoglycemic disorders suffer from neurodevelopmental deficits, as a consequence of delays in the diagnosis and inadequate treatment. Recent advances in the field have resulted in new therapies and improved outcomes. To review these advances and have a dialogue regarding controversies in the field, the Fourth International Hyperinsulinism Symposium, sponsored by the Children's Hospital of Philadelphia was held in Philadelphia, Pennsylvania on September 5-6, 2019...
June 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32741157/genetics-of-neonatal-hypoglycaemia
#12
REVIEW
Magdalena Zoledziewska
Hypoglycaemia is the most common metabolic health complication in newborns. Persistent and severe hypoglycaemia in a neonate is correlated with morbidity and could represent an early clinical manifestation of an endocrine or metabolic, genetically determined disorder. Besides this, the most common reason for neonatal hypoglycaemia is the inmature liver storage of glucose seen in preterms or children born intrauterine growth retarded. The genetic determination of hypoglycaemia is gene- and allele- heterogeneous, and thus complex to diagnose...
June 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32741156/a-clinical-update-on-childhood-hypertension
#13
REVIEW
Sonia Sharma, Peeyush Sharma
BACKGROUND: Hypertension is one of the leading morbid factors in adults but often a less noticeable concern in childhood age group. Young population is now more vulnerable to lifestyle disorders leading to early chronic diseases if not addressed due to presence of ignorance and inadequate assessment. To label hypertension in pediatric age group, blood pressure should be ≥ 95th percentile for age, height and sex in small children. OBJECTIVE: Purpose of review is to unfurl the knowledge for monitoring and management of hypertension in children...
June 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32741155/puberty-in-patients-with-ovotesticular-dsd-evaluation-of-20-patients-and-review-of-the-literature
#14
REVIEW
Julia Warchavchik Melardi, Diego Fontana Siqueira Cunha, Leandra Steinmetz, Durval Damiani
BACKGROUND: Ovotesticular Difference of Sex Development (OT DSD) is a rare condition characterized by histologic demonstration of ovarian and testicular tissue in the same individual. Descriptions in literature usually do not include long term follow-up data. OBJECTIVES: The aim of this study is to describe clinical, biochemical and histological findings, as well as long term outcomes (including onset and progression of puberty) in patients with OT DSD. RESULTS: In a retrospective study of 31 patients, findings include predominantly male gender assignment at the time of referral (54...
June 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32741154/neonatal-and-infant-reference-intervals-for-fsh-lh-testosterone-estradiol-cortisol-and-dhea-s-by-electrochemiluminescence-in-argentina
#15
JOURNAL ARTICLE
Cintia Soledad Tarifa, Liliana Karina Silvano, Silvia Edith Martin, Veronica Campi, Maria Cecilia Aguirre, Gabriela Maria Sobrero, Mariana Ochetti, Mirta Beatriz Miras, Noemi Liliana Muñoz
BACKGROUND: Gonadotropin and steroid concentrations obtained in various laboratories cannot often be compared because of methodological differences. AIMS: to determine reference intervals for FSH, LH, T, E2, F and DHEA-S according to age and sex during the first year of life. METHODS: 1236 healthy infants (1-365 days of age) were recruited at Hospital de Niños in Córdoba, Argentina. Serum samples were analyzed using electrochemiluminescence, Cobas e601 analyzer...
June 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32741153/for-debate-assessment-of-hba1c-in-transfusion-dependent-thalassemia-patients
#16
JOURNAL ARTICLE
Vincenzo De Sanctis, Ashraf T Soliman, Shahina Daar, Salvatore Di Maio, Heba Elsedfy, Christos Kattamis
At present, assessment of haemoglobin A1c (HbA1c) is widely used for the diagnosis and monitoring of treatment in diabetes mellitus (DM). However, the HbA1c level is affected by many factors such as those influencing the lifespan of red blood cells and the structure, function and amount of normal HbA. Therefore, the clinical significance of HbA1c assessment in thalassemia patients needs careful consideration, especially in transfusion dependent thalassemia patients (TDT) in whom circulating Hb is that of blood donors...
June 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32208566/history-of-insulin-treatment-in-children-and-adolescents-with-diabetes-in-japan
#17
JOURNAL ARTICLE
Tatsuhiko Urakami
For the increasing number of type 1 diabetes in Japan, after 1960, a greater supply of insulin was required, accordingly the availability of insulin gradually improved, The National Health Insurance approved self-injections of insulin at home in 1981. Afterwards, intensive insulin treatment with short-acting insulin and intermediate-acting insulin became widely used. Recombinant rapid-acting insulin analog was introduced in 1986 and long-acting insulin analog was introduced in 2003. In recent years, basal-bolus insulin regimens using these insulin analogs have become popular in children and adolescents with type 1 diabetes in Japan, which can improve the metabolic state and quality of life...
March 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32208565/global-inequality-in-type-1-diabetes-a-comparison-of-switzerland-and-low-and-middle-income-countries
#18
COMPARATIVE STUDY
Nilson Almeida Marques, Maria Lazo-Porras, Valérie Schwitzgebel, Montserrat Castellsague, Georges Cimarelli, Mirjam Dirlewanger, Philippe Klee, Luz Perrenoud, David Beran
Globally it is estimated that over 1 million children and adolescents have Type 1 diabetes with large variations in incidence between different contexts. Health systems need to provide a variety of elements to ensure appropriate diabetes care, such as service delivery; healthcare workforce; information; medical products and technologies; financing and leadership and governance. Describing these elements between Geneva, Switzerland, a high-income country with high spending on healthcare and a large density of doctors, and low- and middle-income countries this article aims to highlight the global inequality of diabetes care...
March 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32208564/update-on-worldwide-trends-in-occurrence-of-childhood-type-1-diabetes-in-2020
#19
JOURNAL ARTICLE
Jaakko Tuomilehto, Graham D Ogle, Nicolai A Lund-Blix, Lars C Stene
Epidemiological data on pediatric type 1 diabetes (T1D), mainly incidence, have become increasingly available since the second half of the 20th century. Comparative incidence data across populations were only obtained since the 1980s. The 2019 IDF Atlas provides T1D incidence, prevalence and mortality estimates for children < 15 years for all 211 countries, but actual data were available for only 94 countries (only 3 low-income). The estimated prevalent cases were 600,900 and incident cases 98,200. Incidence remains highest in Finland (60/100,000/ year), Sardinia and Sweden, followed by Kuwait, some other northern European countries, Saudi Arabia, Algeria, Australia, New Zealand, USA and Canada...
March 2020: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/32208563/insulin-a-growth-hormone-and-potential-oncogene
#20
REVIEW
Zvi Laron, Haim Werner
Both in vitro and in vivo experimental studies proved that insulin has an important anabolic role. This physiological function of insulin is reflected in its well documented involvement in protein metabolism and in acceleration of cell proliferation. Support for a growth promoting action of insulin is further provided by clinical studies that revealed that children with hypoinsulinemia have a decreased growth rate whereas, on the other hand, children with hyperinsulinemia have an accelerated growth. While it was initially assumed that the growth activities of insulin are facilitated via cross-talk with the closely related insulin-like growth factor-1 receptor (IGF-1R), it is now clear that the vast majority of these activities are mediated via direct interaction with the insulin receptor (IR)...
March 2020: Pediatric Endocrinology Reviews: PER
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