Health related quality of life is associated with gastroesophageal reflux symptoms in overweight children.

Objectives: The association between obesity and gastroesophageal reflux disease (GERD) is well-established in adults; however, data in pediatric population is scarce. Our study aimed to assess the association between GERD and health-related quality of life (HRQoL) in overweight children.

Methods: From April to August of 2020, we included children aged 7-18 years who attended the Endocrinological Outpatient Clinic at the Paediatric Institute, University of Debrecen, Hungary.

Stimulator of Interferon Genes (STING) Triggers Adipocyte Autophagy.

Innate immune signaling in adipocytes affects systemic metabolism. Cytosolic nucleic acid sensing has been recently shown to stimulate thermogenic adipocyte differentiation and protect from obesity; however, DNA efflux from adipocyte mitochondria is a potential proinflammatory signal that causes adipose tissue dysfunction and insulin resistance. Cytosolic DNA activates the stimulator of interferon response genes (STING), a key signal transducer which triggers type I interferon (IFN-I) expression; hence, STING activation is expected to induce IFN-I response and adipocyte dysfunction.

A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.

MODY2 is caused by heterozygous inactivating mutations in the glucokinase () gene that result in persistent, stable and mild fasting hyperglycaemia (5.6-8.0 mmol/L, glycosylated haemoglobin range of 5.

A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in , , , and Genes.

Maturity-onset diabetes of the young (MODY) has about a dozen known causal genes to date, the most common ones being and . The phenotype of this clinically and genetically heterogeneous form of diabetes depends on the gene in which the patient has the mutation. We have tested 450 Hungarian index patients with suspected MODY diagnosis with Sanger sequencing and next-generation sequencing and found a roughly 30% positivity rate.

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary.

Background: Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryotic Translation Initiation Factor 2-Alpha Kinase 3 (EIF2AK3) gene.

Methods: Genetic analysis of a consanguineous family where two children were diagnosed with WRS was performed by Sanger sequencing.

The associations between mental health, health-related quality of life and insulin pump therapy among children and adolescents with type 1 diabetes.

Background Diabetes has previously been linked to mental health problems in children and adolescents, but more recent studies have yielded mixed findings. The aim of the current study was to compare symptoms of mental health problems in children and adolescents with and without type 1 diabetes (T1DM). Methods Life quality, subjective well-being, self-rated health, depression and somatic symptoms in children and adolescents with diabetes (n=130) were measured and compared to the results of a socio-demographically joined control group (n=177) which consists of healthy children and adolescents.

Autopsy Features of Fatal Donkey Attack.

Lethal donkey attacks have very rarely been described. The case of a 65-year-old man who was found deceased on a country road with 2 domestic donkeys nearby is, therefore, reported. Examination of the body revealed contusions and lacerations of the face and scalp, a comminuted fracture of the left maxilla, comminuted fracturing of the right radius and ulna and of the left anterior superior iliac spine, a flail chest, and pulmonary contusions.

[The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study].

Introduction: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (ISS), in 50-90% of patients with Leri-Weill dyschondrosteosis syndrome (LWS), and in almost 100% of patients with Turner syndrome.

Aim: The aim of our study was to evaluate the frequency of SHOX gene haploinsufficiency in children with ISS, LWS and in patients having Turner syndrome phenotype (TF), but normal karyotype, and to identify the dysmorphic signs characteristic for SHOX gene deficiency.

Early Corneal Cellular and Nerve Fiber Pathology in Young Patients With Type 1 Diabetes Mellitus Identified Using Corneal Confocal Microscopy.

Purpose: The aim of this study was to quantify epithelial, stromal, and endothelial cell density, and subbasal nerve morphology in young patients with type 1 diabetes mellitus with and without diabetic retinopathy.

Methods: A total of 28 young patients (mean age, 22.86 ± 9.

Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.

Context: Congenital hypothyroidism (CH) is one of the most common inborn endocrine disorders with genetic background. Despite the well-established newborn CH screening program in Hungary, no systematic examination of the underlying genetic alterations has been performed as yet.

Objective: We aimed to explore TSH receptor (TSHR) mutations in a cohort of Hungarian patients with CH.

Pediatric myocarditis: A sentinel of non-cardiac chronic diseases?

Introduction: Although long-term outcome studies in large pediatric myocarditis/cardiomyopathy populations have been reported in literature, none of them focused on comorbidities.

Methods: All children and adolescents (age <18 years) treated with myocarditis at the Department of Pediatrics, University of Debrecen, Hungary were followed. Patients suffering from myocarditis during the period 1996-2011 were enrolled.

[Deletion 15q26 syndrome].

The association of short stature, microcephaly, congenital cardiac anomaly and intellectual deficit should always raise the suspicion of chromosomal etiology. If G-banded karyotyping fails to detect large chromosomal aberrations, array comparative genomic hybridization (array CGH) should be performed to screen for submicroscopic pathological copy number changes. The authors present a six-year-old girl whose symptoms arose from a 4.

Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome.

Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a rare malformation syndrome consisting of multiple, mainly midline defects. Some authors suggest that it is a mild manifestation of the wide spectrum of holoprosencephaly, others classify it rather as a distinct entity. Authors report a case of SMMCI presenting with growth retardation, mild intellectual disability and absence of puberty.

Guided bone regeneration in pig calvarial bone defects using autologous mesenchymal stem/progenitor cells - a comparison of different tissue sources.

Due to donor side morbidity and the absence of osteogenic properties in bone substitutes, there is a growing need for an alternative to traditional bone grafting within the scope of tissue engineering. This animal study was conducted to compare the in vivo osteogenic potential of adipose-derived (AD), periosteum-derived (PD) and bone marrow-derived (BM) mesenchymal stem/progenitor cells (MSC). Autologous mesenchymal stem/progenitor cells of named tissue origin were induced into osteogenic differentiation following in vitro cell expansion.

Alterations of carbohydrate and lipoprotein metabolism in childhood obesity--impact of insulin resistance and acanthosis nigricans.

Aim: To study the prevalence of alterations of glucose and lipoprotein metabolism and the impact of acanthosis nigricans (AN) in childhood obesity.

Patients And Methods: 113 obese children, 57 with simple obesity (SO) and 58 with obesity and AN (OAN). Oral glucose tolerance test was performed, serum glucose, insulin and lipoprotein parameters were determined, and insulin resistance/sensitivity indices were calculated.

Reconstruction of a mandibular defect with autogenous, autoclaved bone grafts and tissue engineering: An in vivo pilot study.

Reconstruction of bone defects with autogenous, autoclaved bone grafts has already been described but does have one major insuperable problem-the loss of the ostoinductive potential of the graft. In this study, we investigated if autogenous, autoclaved grafts in combination with tissue engineered bone can overcome this problem. An en-bloc resection was done in the mandible of eight pigs.

Alterations of glucoregulation in childhood obesity--association with insulin resistance and hyperinsulinemia.

Aim: To study the prevalence of alterations of glucoregulation in childhood obesity.

Participants: 250 obese children. Oral glucose tolerance test was performed, serum glucose and insulin were determined, and HOMA-IR was calculated.

Bone regeneration after topical BMP-2-gene delivery in circumferential peri-implant bone defects.

Objectives: The aims of this study were to evaluate the rate of bone formation and osseointegration after topical gene delivery with a liposomal vector system carrying bone morphogenetic protein (BMP)-2 cDNA in combination with a collagen carrier and autologous bone as a carrier in freshly created peri-implant bone defects.

Materials And Methods: Eight domestic pigs received nine calvariae defects each (10 x 7 mm). A dental implant was inserted into the centre of each defect.

Bone regeneration in osseous defects-application of particulated human and bovine materials.

Objective: Different bone substitute materials are used to manage the challenge of local bone loss subsequent to craniofacial reconstructive surgery. In this animal study we examined the de novo bone formation in bone defects after insertion of Puros Allograft of human origin or Navigraft of bovine origin, and compared the regenerative potential of each material to that of autogenous bone.

Study Design: Using the adult domestic pig as the animal model, we created identical bone defects in the frontal skull and filled them with the different test materials using random assignment.

Sinus floor elevation using autogenous bone or bone substitute combined with platelet-rich plasma.

Objective: Sinus augmentation is a common approach for patients with severe alveolar ridge atrophy. However, autogenous bone sometimes results in donor site complications. Bone substitutes with platelet-rich plasma (PRP) promote early bone formation with autogenous bone.

The effect on bone regeneration of a liposomal vector to deliver BMP-2 gene to bone grafts in peri-implant bone defects.

Successful bone-implant osseointegration in large peri-implant bone defects is often difficult, even through autologous bone grafting. Recently, cell-mediated regional gene therapy was introduced to deliver potent morphogens or growth factors in regenerative medicine. We applied liposomal vectors carrying bone morphogenetic protein (BMP)-2 cDNA directly into freshly created peri-implant bone defects on pig calvariae, with or without autologous bone graft.

Evaluation of substitutes for bone: comparison of microradiographic and histological assessments.

We created defects of standard size in the frontal bones of adult pigs and filled them with four different materials. On six occasions (at 1, 2, 4, 8, 12, and 26 weeks), samples were harvested, and evaluated by computing microradiographic images. We examined the specimens histologically as controls.

Stability of autogenous bone grafts after sinus lift procedures: a comparative study between anterior and posterior aspects of the iliac crest and an intraoral donor site.

Background: Autologous bone is the standard material used for augmentations in oral-maxillofacial surgery. Depending on the origin of the graft, subsequent bone resorption may vary.

Study Design: This prospective study evaluated 57 patients receiving 2-stage sinus floor augmentations.