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Journal of Clinical Research in Pediatric Endocrinology

https://read.qxmd.com/read/38529548/exploring-multiple-endocrinological-issues-and-dysautonomia-in-a-rare-case-hypoparathyroidism-in-mirage-syndrome
#1
JOURNAL ARTICLE
Sirmen Kızılcan Çetin, Elif Özsu, Zeynep Şıklar, Hasan Fatih Çakmaklı, Gizem Şenyazar, Zehra Aycan, Serdar Ceylaner, Merih Berberoğlu
MIRAGE syndrome is a rare multisystemic disorder characterized by various manifestations, such as myelodysplasia, susceptibility to infections, growth retardation, adrenal hypoplasia, genital anomalies, and enteropathy. In the literature, there have been rare cases of dysautonomia. We present a 6.5-year-old girl, who was first admitted to our department with short stature. On follow up, she exhibited multiple endocrinological issues, including transient hypothyroidism, primary hypoparathyroidism and dysautonomia, along with multisystem involvement...
March 26, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38523346/vitamin-d-status-in-an-italian-pediatric-cohort-is-there-a-role-for-tobacco-smoking-exposure
#2
JOURNAL ARTICLE
Maria Grazia Clemente, Dario Argiolas, Stefania Bassu, Angela Bitti, Cristian Locci, Mauro Argiolas, Lino Argiolas, Laura Saderi, Mariangela V Puci, Giovanni Sotgiu, Mary E Blue, Roberto Antonucci
INTRODUCTION: Vitamin D deficiency is a common public health issue worldwide. The purpose of this study was to investigate the vitamin D status and its potential determinants in children residing in Sardinia (40°N), Italy. METHODS: A total of 182 children (males: 51.7%; median age: 9 years) were enrolled over a 12-month period. Serum 25(OH)D was measured by an immune-chemiluminescence assay. A questionnaire was used to gather information on other variables, including passive smoke exposure...
March 25, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38523345/assessment-of-thyroid-gland-in-children-with-point-of-care-ultrasound-pocus-radiological-performance-and-feasibility-of-handheld-ultrasound-in-clinical-practice
#3
JOURNAL ARTICLE
Ahmet Anık, Mustafa Gök, Göksel Tuzcu
BACKGROUND: Point-of-Care Ultrasound (POCUS) refers to the use of portable ultrasound machines to perform quick and focused ultrasound examinations at a patient's bedside or point-of-care. POCUS can be performed by all health workers with specific training to use POCUS. This study aimed to investigate the radiological performance and feasibility of POCUS using a handheld ultrasound (HHUSD) system in children from the perspective of the thyroid gland perspective. MATERIAL-METHODS: A pediatric endocrinologist performed thyroid imaging in children referred to our hospital with suspected thyroid disease using an HHUSD system...
March 25, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38523344/estrogen-receptor-1-gene-polymorphism-and-its-association-with-idiopathic-short-stature-in-north-indian-population
#4
JOURNAL ARTICLE
Ravi Shankar Patel, Roshan Daniel, Chitra Bhardwaj, Anu Kumari, Pratibha Bawa, Ankita Tyagi, Devi Dayal, Anupriya Kaur, Inusha Panigrahi, Harvinder Kaur, Priyanka Srivastava
BACKGROUND: In the hypothalamic-pituitary-gonadotrophin (HPG) axis, estrogen plays a key role in the bone maturation regulation and growth plates closure. This study was designed to explore the link between single nucleotide polymorphisms (SNPs) in estrogen receptor 1 (ESR1) gene with idiopathic short stature (ISS) susceptibility in the North Indian population. METHODS: Four SNPs of the ESR1 gene (rs543650, rs6557177, rs2234693 and rs9340799) were genotyped by Sanger sequencing in 52 ISS patients and 68 controls...
March 25, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38488051/current-management-of-type-1-diabetes-in-children-guideline-based-expert-opinions-and-recommendations
#5
JOURNAL ARTICLE
Sukru Hatun, Tugba Gokce, Ecem Can, Elif Eviz, Kagan Ege Karakus, Carmel Smart, Ragnar Hanas, Gul Yesiltepe Mutlu
Successful management of type 1 diabetes (T1D) requires not only optimal glycemic outcomes, but also a holistic approach that encompasses all aspects of life and recommendations to address needs. Current goals include optimal glycaemic values, quality of life and life expectancy similar to peers, prevention of long-term complications, prevention of severe hypoglycaemia as much as possible, facilitation of glucose management, etc. International Society for Pediatric and Adolescent Diabetes (ISPAD) has been updating its guidelines for diabetes care every 4 years since 1995, covering more and more topics...
March 15, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38488050/long-acting-growth-hormone-therapy-rational-and-future-aspects
#6
JOURNAL ARTICLE
Semra Çetinkaya, Erdal Eren, Furkan Erdoğan, Feyza Darendeliler
Recombinant growth hormone (GH) is administered as daily subcutaneous injections. Daily treatment can be challenging for children/adolescents as well as for parents and/or caregivers (legal representatives, guardians of children in institutional care). Challenges associated with daily treatment may result in missing several doses and non-adherence with treatment leads to inadequate growth response. As an inadequate growth response does not meet criteria for continuing treatment, payers (commercial or public) may decide to end reimbursement...
March 15, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38488049/adherence-to-growth-hormone-treatment-in-children-during-covid-19-pandemic
#7
JOURNAL ARTICLE
Erdal Eren, Semra Çetinkaya, Yasemin Denkboy Ongen, Ummahan Tercan, Şükran Darcan, Hande Turan, Fatma Yavuzyılmaz, Fatih Kilci, Beray Selver Eklioğlu, Nihal Hatipoğlu, Kubra Yuksek Acinikli, Zerrin Orbak, Emine Çamtosun, Şenay Savaş Erdeve, Emrullah Arslan, Oya Ercan, Feyza Darendeliler
OBJECTIVE: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported nonadherence rates in GH treatment have varied widely. Several factors may have an impact on adherence. Apart from these factors, the global impact of the COVID-19 pandemic, including problems with hospital admission and routine follow-up of patients using GH treatment, may have additionally affected the adherence rate. The primary objective of this study was to investigate adherence to treatment in patients receiving GH...
March 15, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38488037/reversibility-of-hyperglycemic-states-in-children-with-obesity-diagnostic-pitfalls-in-the-assessment-of-glucose-metabolism-in-children-and-adolescents-with-obesity
#8
JOURNAL ARTICLE
Anna Iwańska, Małgorzata Wójcik, Ewa Szczudlik, Anna Stępniewska, Jerzy B Starzyk
OBJECTIVE: Disorders of glucose metabolism in children with obesity are less common than in adults. There is also evidence that they may be transient. The aim of this study was to determine the prevalence of impaired fasting glucose (IFG), impaired glucose tolerance (IGT), type 2 diabetes mellitus (DM2) and its reversibility in pediatric patients with obesity and to define the factors determining the reversibility of prediabetes or progression to diabetes. METHODS: Retrospective analysis included 573 patients with obesity (mean BMI Z-score 4...
March 15, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38420910/adult-outcome-after-partial-androgen-insensitivity-syndrome-diagnosed-and-assigned-female-in-infancy
#9
JOURNAL ARTICLE
Peter A Lee
This patient, now in her 40s, was evaluated because of genital ambiguity and diagnosed with pAIS in infancy based upon elevated testosterone and gonadotropin levels and significantly reduced binding affinity of the androgen receptor. Such reduced binding is consistent with a structural abnormality of the receptor protein precluding expected activity of the androgen receptor. Based on this information and counseling, her parents chose a female sex assignment. She had clitoral recession and testes removal as an infant and neovaginal surgery using a distal ileum segment at age 11 years and was begun on estrogen therapy at age 12 years...
February 29, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38407006/novel-obsl1-variant-in-a-chinese-patient-with-3m-syndrome-and-the-c-458dupg-mutation-may-be-a-potential-hotspot-mutation-in-the-chinese-population
#10
JOURNAL ARTICLE
Yurong Piao, Rongmin Li, Yingjie Wang, Congli Chen, Yanmei Sang
3M syndrome is an autosomal recessive disorder characterized by short stature and skeletal developmental abnormalities. In this study, a Chinese patient with 3M syndrome was presented. A novel OBSL1 (obscurin-like 1 gene) variant was found. The patient is a 2-year-old girl who presented with short stature and had intrauterine growth retardation and low birth weight. Gene analysis revealed compound heterozygote mutations in the OBSL1 gene: c.458dupG (p.L154Pfs*100) and c.427dupG (p.A143Gfs*111). The c.427dupG mutation is novel...
February 26, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38374795/acute-kidney-injury-after-thyroid-hormone-withdrawal-in-an-adolescent-with-papillary-thyroid-carcinoma
#11
JOURNAL ARTICLE
Yavuz Özer, Rüveyda Gülmez, Hande Turan, Gürkan Tarçın, Dilek Bingöl Aydın, Olcay Evliyaoğlu, Oya Ercan
OBJECTIVES: We report a patient with papillary thyroid carcinoma (PTC) who developed acute kidney injury (AKI) and elevated creatine kinase (CK) after thyroid hormone withdrawal (THW) prior to radioiodine therapy. CASE PRESENTATION: A 12-year-old female patient who had undergone total thyroidectomy for PTC one year ago presented with leg pain for the past 2 days. Following THW 3 weeks ago, the case had received 70 mCI radioiodine treatment 6 days ago. Serum creatinine (1...
February 20, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38347685/salivary-sex-steroid-levels-in-infants-and-their-relation-with-infantile-colic
#12
JOURNAL ARTICLE
Fulya Mete Kalaycı, Özlem Gürsoy Doruk, İbrahim Mert Erbaş, Osman Tolga İnce, Makbule Neslişah Tan, Adem Aydın, Ayhan Abacı, Ece Böber, Korcan Demir
BACKGROUND: Hypothalamic-pituitary-gonadal axis is active during minipuberty, timing of which coincides with infantile colic. To the best of our knowledge, the relationship between these entities has not been investigated yet. METHODS: Saliva samples were collected from 15- to 60-day-old term infants (n=139) between 9 am and 5 pm. Group 1 included infants with infantile colic (n=68, 54.4% female). Remaining healthy infants constituted Group 2 (n=71, 47.9% female)...
February 12, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38347684/non-thyroidal-illness-in-children-with-congestive-heart-failure
#13
JOURNAL ARTICLE
Biswajit Sahoo, Aashima Dabas, Binita Goswami, Anurag Agarwal, Sumod Kurian
OBJECTIVES: To estimate the proportion and risk factors of non-thyroidal illness (NTI) in children with congenital heart disease (CHD) with congestive heart failure(CHF). METHODS: This study enrolled children (6 weeks to 60 months age) with CHD and CHF. The clinical profile and disease severity using Pediatric Early Warning Score (PEWS) was recorded. Baseline blood samples were taken within 24hours of hospitalization and evaluated for fT3, fT4, TSH, NT pro-Brain natriuretic peptide (NT pro-BNP) and reverseT3...
February 12, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38345399/diagnosis-and-therapy-in-mct8-deficiency-ongoing-challenges
#14
JOURNAL ARTICLE
Matthijs E. T Freund, Floor van der Most, W. Edward Visser
No abstract text is available yet for this article.
February 12, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38344969/hyperinsulinemia-in-sotos-syndrome-with-a-de-novo-nsd1-deletion
#15
JOURNAL ARTICLE
Elena Lundberg, Magnus Burstedt, Irina Golovleva
Sotos syndrome belongs to the group of diseases characterised by features such as facial dysmorphism, intellectual disability, hypotonia and overgrowth. Usually, Sotos syndrome is caused by heterozygous mutations in the NSD1 gene at chromosome 5q35 or by large genomic deletions of the same region. Genotype-phenotype correlations have mainly been reported as an association of significant or major abnormalities and presence of 5q35 deletions rather than intragenic deletions or point mutations in NSD1. The congenital hyperinsulinaemic hypoglycaemia (CHI) has been described as an uncommon feature in the presentation of Sotos syndrome...
February 12, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38275148/microcephaly-in-infants-a-retrospective-cohort-study-from-t%C3%A3-rkiye
#16
JOURNAL ARTICLE
Gonca Keskindemirci, Öykü Özbörü Aşkan, Burak Selver, Alev Bakır Kayı, Gülbin Gökçay
OBJECTIVES: Microcephaly (MC) is a clinical finding mostly reflecting deficiency of brain growth. The aim of our study was to assess risk factors and follow-up features of children with MC. METHODS: Children's personal health records (n=7580) followed between 2002 and 2020 in the Unit of Well Child Clinic were assessed retrospectively. The case group was constituted of children with MC (n=49). Age and sex-matched children with normal head circumference consisted of the control group (n=98)...
January 26, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38275147/assessment-of-executive-function-skills-in-children-with-isolated-growth-hormone-deficiency-a-cross-sectional-study
#17
JOURNAL ARTICLE
Gülsüm Yitik Tonkaz, Atilla Çayır
OBJECTIVES: This study aims to evaluate executive functions such as inhibition and working memory in children with isolated growth hormone deficiency (IGHD) using performance-based tests and parent-report scales. METHODS: A total of seventy children between the ages of 7 and 12 were included in the study. To evaluate the executive functioning (EF) performances of the participants, the Visual Aural Digit Span Test-B Form (VADS-B) and Stroop task were applied. Executive functioning was also evaluated using the Behavior Rating Inventory of Executive Function (BRIEF)...
January 26, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38238969/associations-of-adipocyte-derived-versican-and-macrophage-derived-biglycan-with-body-adipose-tissue-and-hepatosteatosis-in-obese-children
#18
JOURNAL ARTICLE
Reyhan Deveci Sevim, Mustafa Gök, Özge Çevik, Ömer Erdoğan, Sebla Güneş, Tolga Ünüvar, Ahmet Anık
OBJECTIVE: In animal models of obesity, adipocyte-derived versican, and macrophage-derived biglycan play a crucial role in mediating adipose tissue inflammation. We aimed to investigate the levels of versican and biglycan in obese children and their potential association with body adipose tissue and hepatosteatosis. METHODS: Serum levels of versican, biglycan, IL-6, and hsCRP were measured using the ELISA method. The fat deposition in the liver, spleen, and subcutaneous adipose tissue was calculated using the IDEAL-IQ sequences of MRI...
January 18, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38238968/evaluating-postoperative-outcomes-and-investigating-the-usefulness-of-eu-tirads-scoring-in-managing-pediatric-thyroid-nodules-bethesda-3-and-4
#19
JOURNAL ARTICLE
Aylin Kılınç Uğurlu, Abdurrahman Bitkay, Fatih Gürbüz, Esra Karakuş, Gülşah Bayram Ilıkan, Çağrı Damar, Seda Şahin, Merve Meryem Kıran, Nedim Gülaldı, Müjdem Nur Azılı, Emrah Şenel, İnci Ergürhan İlhan, Mehmet Boyraz
PURPOSE: The study aimed to assess the postoperative outcomes of pediatric thyroid nodules with Atypia of Undetermined Significance (AUS/FLUS) or Suspicious for a Follicular Neoplasm (SFN) and their EU-TIRADS scoring. METHODS: The study retrospectively reviewed 44 patients at a single center with thyroid nodules classified as Atypia of Undetermined Significance or Suspicious for a Follicular Neoplasm from August 2019 to December 2022. Data on demographics, thyroid function, nodule size, and ultrasonographic features were collected...
January 18, 2024: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/38230957/floating-harbor-syndrome-in-a-korean-patient-with-short-stature-and-early-puberty-a-case-report
#20
JOURNAL ARTICLE
Jooyoung Jeon, Eu-Seon Noh, Il Tae Hwang
Floating-Harbor syndrome (FHS) is a rare autosomal dominant genetic disorder characterized by proportionately short stature, lack of expressive language, and distinctive facial features, including a large nose, long eyelashes, deeply set eyes, and a triangular face. We present a case of an 11-year-old Korean girl who was initially suspected of having Noonan-like syndrome but was later diagnosed with Floating-Harbor syndrome. The patient exhibited short stature, developmental language delay, dysmorphic facial features, and early puberty...
January 17, 2024: Journal of Clinical Research in Pediatric Endocrinology
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