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Pediatrics endocrinology

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https://www.readbyqxmd.com/read/29330018/testicular-adrenal-rest-tumor-screening-and-fertility-counseling-among-males-with-congenital-adrenal-hyperplasia
#1
Monika Chaudhari, Emilie K Johnson, Daniel DaJusta, Leena Nahata
BACKGROUND: Reduced fertility is a common potential problem among males with congenital adrenal hyperplasia (CAH), with nearly half experiencing impaired sperm production. The major cause of oligo/azoospermia in CAH is testicular adrenal rest tumors (TARTs). Studies indicate that ultrasound screening for TARTs should begin during childhood, yet it remains unclear whether boys with CAH are routinely screened for TARTs and/or counseled about infertility risk and potential interventions such as fertility testing and/or preservation...
December 21, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29325833/treatment-of-graves-disease-in-children-the-portuguese-experience
#2
Olinda Marques, Ana Antunes, Maria João Oliveira
INTRODUCTION: Graves' disease (GD) is an autoimmune thyroid disease, common in adults but rare in children. The best therapeutic approach remains controversial. OBJECTIVES: To ascertain the current treatment of pediatric GD in Portugal and to assess the clinical and biochemical factors that determine definitive/long-term remission after treatment with antithyroid drugs (ATDs). PATIENTS AND METHODS: A retrospective analysis of data about pediatric GD treatment collected from a nationwide survey conducted by the Portuguese Society of Pediatric Endocrinology and Diabetology from May to August 2013...
January 8, 2018: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/29323689/pediatric-endocrinology
#3
EDITORIAL
Amit Lahoti, Deepak Kamat
No abstract text is available yet for this article.
January 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29323687/pediatric-endocrinology-lead-toxicity-in-sickle-cell-disease-and-hiv-pre-exposure-prophylaxis
#4
EDITORIAL
Joseph R Hageman
No abstract text is available yet for this article.
January 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29249003/mitochondrial-disease-in-children-the%C3%A2-nephrologist-s-perspective
#5
Paula Pérez-Albert, Carmen de Lucas Collantes, Miguel Ángel Fernández-García, Teresa de Rojas, Cristina Aparicio López, Luis Gutiérrez-Solana
Mitochondrial diseases (MD) are a heterogeneous group of clinical syndromes characterized by the involvement of different organ systems. They constitute the most prevalent hereditary metabolic disease group. OBJECTIVE: To review the importance of the kidney in MD from the nephrologist's perspective within the setting of a pediatric tertiary reference center. STUDY DESIGN: Retrospective study of children (<18 years) with MD followed between 2000 and 2016 at a tertiary Spanish center...
December 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29230595/an-optimized-technique-of-endoscopic-third-ventriculocisternostomy-etv-for-children-with-occlusive-hydrocephalus
#6
Albert Akramovich Sufianov, Ekkehard M Kasper, Rinat Albertovich Sufianov
In this article, we present an optimized minimally invasive technique of ETV for children with occlusive hydrocephalus. The study comprises of 64 consecutive pediatric cases (34 boys and 30 girls aged from 1 month to 5 years) of occlusive hydrocephalus from various etiologies, which were treated with a modified technique of ETV. Mean clinical follow-up period after ETV was 24.2 ± 3.8 months. Application of the new technique made it possible to significantly reduce the length of the soft tissue incision for access, and the use of upgraded instruments allowed to perform a twist drill hole in the skull to less than half a usual size...
December 11, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/29229501/proceedings-of-the-2017-santa-fe-bone-symposium-insights-and-emerging-concepts-in-the-management-of-osteoporosis
#7
REVIEW
E Michael Lewiecki, John P Bilezikian, John J Carey, Richard M Dell, Catherine M Gordon, Steven T Harris, Michael R McClung, Paul D Miller, Michael Rosenblatt
The 18th Annual Santa Fe Bone Symposium was held on August 4-5, 2017, in Santa Fe, New Mexico, USA. The symposium convenes health-care providers and clinical researchers to present and discuss clinical applications of recent advances in research of skeletal diseases. The program includes lectures, oral presentations by endocrinology fellows, case-based panel discussions, and breakout sessions on topics of interest, with emphasis on participation and interaction of all participants. Topics included the evaluation and treatment of adult survivors with pediatric bone diseases, risk assessment and management of atypical femur fractures, nonpharmacologic strategies in the care of osteoporosis, and skeletal effects of parathyroid hormone with opportunities for therapeutic intervention...
November 20, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/29207322/identification-of-a-vte-rich-population-in-pediatrics-critically-ill-children-with-central-venous-catheters
#8
Minh Tran, Steven L Shein, Xinge Ji, Sanjay P Ahuja
BACKGROUND: The incidence of venous thromboembolism (VTE) is rising among inpatients in US hospitals, especially among kids with central venous catheters (CVCs) in the pediatric intensive care unit (PICU). OBJECTIVES: To identify a sub-group of "VTE-rich" population among PICU children, and to assess the effect of VTE on morbidity and mortality. METHODS: Data was extracted from a multicenter Virtual PICU Database, or VPS, for children with a CVC and presence of a VTE...
January 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29206731/enteral-feeding-practices-in-infants-with-congenital-heart-disease-across-european-picus-a-european-society-of-pediatric-and-neonatal-intensive-care-survey
#9
Lyvonne N Tume, Reinis Balmaks, Eduardo da Cruz, Lynne Latten, Sascha Verbruggen, Frédéric V Valla
OBJECTIVES: To describe enteral feeding practices in pre and postoperative infants with congenital heart disease in European PICUs. DESIGN: Cross-sectional electronic survey. SETTING: European PICUs that admit infants with congenital heart disease pre- and postoperatively. PARTICIPANTS: One senior PICU physician or designated person per unit. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Fifty-nine PICUs from 18 European countries responded to the survey...
December 4, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29184812/fertility-counseling-and-preservation-considerations-for-the-pediatric-endocrinologist
#10
REVIEW
Amanda J Saraf, Leena Nahata
Infertility is a distressing consequence of numerous pediatric medical conditions and treatments. The field of pediatric fertility preservation has expanded rapidly over the past decade, and clinical guidelines emphasize the importance of discussing infertility risk and fertility preservation options with patients and families in a timely manner. Understanding the various mechanisms and presentations of fertility issues across diagnoses is imperative to provide counseling to patients and families, and identify individuals who may benefit from fertility preservation...
October 2017: Translational Pediatrics
https://www.readbyqxmd.com/read/29183106/monogenic-diabetes-not-caused-by-mutations-in-mody-genes-a-very-heterogenous-group-of-diabetes
#11
Zeynep Şıklar, Elisa de Franco, Matthew B Johnson, Sarah E Flanagan, Sian Ellard, Serdar Ceylaner, Kaan Boztuğ, Figen Doğu, Aydan İkincioğulları, Zarife Kuloğlu, Aydan Kansu, Merih Berberoğlu
Monogenic diabetes represents a heterogeneous group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes into neonatal diabetes or maturity onset diabetes of the young (MODY) according to age of onset, not every case can be classified into those 2 groups. We evaluated patients with monogenic diabetes diagnosed during the last 10 year period. Type 1 DM, MODY, and patients with negative autoantibodies and no mutation in a known gene were excluded from the study...
November 28, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/29168375/cholestasis-and-hypercalcemia-secondary-to-panhypopituitarism-in-a-newborn
#12
Fatma Dursun, Nelgin Gerenli, Heves Kırmızıbekmez
Dursun F, Gerenli N, Kırmızıbekmez H. Cholestasis and hypercalcemia secondary to panhypopituitarism in a newborn. Turk J Pediatr 2017; 59: 100-103. Cholestatic hepatitis and hypercalcemia are rare features of hypopituitarism in newborns. So diagnosis of hypopituitarism is frequently delayed. The most frequent symptoms of congenital hypopituitarism are hypoglycemia, prolonged jaundince and micropenis. A patient with congenital hypopituitarism associated with cholestasis and hypercalcemia is reported here...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29148123/donohue-syndrome-a-review-of-literature-case-series-and-anesthetic-considerations
#13
REVIEW
Alana Kirkwood, Grant Stuart, Louise Harding
BACKGROUND: Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the insulin to bind the receptor. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. An accelerated fasting state results in muscle wasting, decreased subcutaneous fat, and an excess of thick skin. A reduced thoracic diameter is accentuated by increased abdominal distension, which impacts on respiratory reserve...
November 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29127766/etiologies-of-short-stature-in-a-pediatric-endocrine-clinic-in-southern-thailand
#14
Tansit Saengkaew, Edward McNeil, Somchit Jaruratanasirikul
BACKGROUND: Short stature is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of short stature vary and are commonly grouped into pathological and non-pathological disorders. The objective of the study was to determine the etiologies and describe the characteristics of short stature patients who attended the Pediatric Endocrinology Clinic and to compare factors between normal variant short stature (NVSS) and growth hormone deficiency (GHD)...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29125446/suprasellar-and-recurrent-pediatric-craniopharyngiomas-expanding-indications-for-the-extended-endoscopic-transsphenoidal-approach
#15
Andrew F Alalade, Elizabeth Ogando-Rivas, Jerome Boatey, Mark M Souweidane, Vijay K Anand, Jeffrey P Greenfield, Theodore H Schwartz
OBJECTIVE The expanded endonasal endoscopic transsphenoidal approach has become increasingly used for craniopharyngioma surgery in the pediatric population, but questions still persist regarding its utility in younger children, in recurrent and irradiated tumors, and in masses primarily located in the suprasellar region. The narrow corridor, incomplete pneumatization, and fear of hypothalamic injury have traditionally relegated this approach to application in older children with mostly cystic craniopharyngiomas centered in the sella...
November 10, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29121256/malignant-testicular-germ-cell-tumors-in-postpubertal-individuals-with-androgen-insensitivity-prevalence-pathology-and-relevance-of-single-nucleotide-polymorphism-based-susceptibility-profiling
#16
M Cools, K P Wolffenbuttel, R Hersmus, B B Mendonca, J Kaprová, S L S Drop, H Stoop, A J M Gillis, J W Oosterhuis, E M F Costa, S Domenice, M Y Nishi, L Wunsch, C A Quigley, G T'Sjoen, L H J Looijenga
STUDY QUESTION: What is the prevalence of malignant testicular germ cell tumors (TGCT) and its precursors, (pre-) germ cell neoplasia in situ (GCNIS), in late teenagers and adults who have androgen insensitivity syndrome (AIS) and the impact of an individual's genetic susceptibility to development of TGCT? SUMMARY ANSWER: No GCNIS or TGCT was diagnosed, but pre-GCNIS was identified in 14 and 10% of complete and partial AIS patients, respectively, and was associated with a higher genetic susceptibility score (GSS), with special attention for KITLG (rs995030) and ATFZIP (rs2900333)...
November 7, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29083441/measuring-active-and-healthy-ageing-applying-a-generic-interdisciplinary-assessment-model-incorporating-icf
#17
P Stute, N Bitterlich, J Bousquet, F Meissner, M von Wolff, D Poethig
OBJECTIVES: In this study we compared the chronological and bio-functional age between two German speaking cohorts 30 years apart applying a comprehensive and generic Active and Healthy Aging (AHA) assessment model incorporating ICF. METHODS: Single-centre, cross-sectional, observational, non-interventional, non-randomized trial at an University based women's hospital, division of Gynecological Endocrinology and Reproductive Medicine. All participants followed a standardized, holistic battery of biopsychosocial assessments consisting of bio-functional status (BFS), bio-functional age (BFA) and additional validated psychometric questionnaires...
2017: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/29077292/-scientific-publication-output-of-spanish-emergency-physicians-from-2005-to-2014-a-comparative-study
#18
Inés María Fernández-Guerrero, Francisco Javier Martín-Sánchez, Guillermo Burillo-Putze, Òscar Miró Rafat Sellarés
OBJECTIVES: To analyze the research output of Spanish emergency physicians between 2005 and 2014 and to compare it to their output in the previous 10-year period (1995-2004) as well as to that of emergency physicians in other countries and Spanish physicians in other specialties. MATERIAL AND METHODS: Original articles indexed in the Science Citation Index Expanded of the Web of Science were included. Documents from Spanish emergency physicians were identified by combining the word Spain and any other search term identifying an emergency service or unit in Spain...
October 2017: Emergencias: Revista de la Sociedad Española de Medicina de Emergencias
https://www.readbyqxmd.com/read/29062584/adrenal-insufficiency-in-pediatric-eosinophilic-esophagitis-patients-treated-with-swallowed-topical-steroids
#19
Stephanie Hsu, Colleen Wood, Zhaoxing Pan, Haseeb Rahat, Philip Zeitler, David Fleischer, Calies Menard-Katcher, Glenn T Furuta, Dan Atkins
Swallowed topical steroids (STS) are the only effective pharmacological therapy for eosinophilic esophagitis (EoE). Thus far, studies of small populations of EoE patients have reported conflicting results in relation to adrenal insufficiency (AI). We sought to measure AI in a clinical setting in children taking STS for EoE. We performed a quality improvement study of pediatric EoE patients seen in a multidisciplinary clinic, who were treated with STS for at least 3 months. Two hundred twenty-five patients completed questionnaires to assess for signs of AI...
September 1, 2017: Pediatric Allergy, Immunology, and Pulmonology
https://www.readbyqxmd.com/read/29055783/prenatal-organochlorine-pesticide-exposure-and-the-disruption-of-steroids-and-reproductive-hormones-in-cord-blood-the-hokkaido-study
#20
Atsuko Araki, Chihiro Miyashita, Takahiko Mitsui, Houman Goudarzi, Futoshi Mizutani, Youichi Chisaki, Sachiko Itoh, Seiko Sasaki, Kazutoshi Cho, Kimihiko Moriya, Nobuo Shinohara, Katsuya Nonomura, Reiko Kishi
Certain organochlorine pesticides (OCPs) are designated as persistent organic pollutants and are regulated in many countries. The effects of OCPs on pediatric endocrinology are a concern; however, only limited data exist from human studies on maternal OCP exposure and its effects on infants' hormone levels. This study was conducted as part of the Hokkaido Study Sapporo Cohort, a prospective birth cohort study in Japan. Participants included 514 women who enrolled at 23-35weeks of gestation between 2002 and 2005; maternal blood samples were collected in late pregnancy, and 29 OCPs were measured...
January 2018: Environment International
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