Real-World Study of Ragweed Sublingual Immunotherapy in Hungary.

Background: Ragweed () has become invasive in Europe, causing significant respiratory issues. Subcutaneous allergen immunotherapy (SCIT) has long been used to manage pollen allergies, but sublingual immunotherapy (SLIT) has gained interest.

Objective: This study aimed to evaluate the clinical benefits of ragweed SLIT under real-world in a cohort of Hungarian patients allergic to ragweed pollen.

MEN1 mutations and potentially MEN1-targeting miRNAs are responsible for menin deficiency in sporadic and MEN1 syndrome-associated primary hyperparathyroidism.

Inherited, germline mutations of menin-coding MEN1 gene cause multiple endocrine neoplasia type 1 (MEN1), while somatic MEN1 mutations are the sole main driver mutations in sporadic primary hyperparathyroidism (PHPT), suggesting that menin deficiency has a central role in the pathogenesis of PHPT. MiRNAs are small, noncoding RNAs posttranscriptionally regulating gene expression. Our aim was to investigate both the role of MEN1 mutations and potentially MEN1-targeting miRNAs as the underlying cause of menin deficiency in MEN1-associated and sporadic PHPT tissues.

Menin dynamics and functional insight: take your partners.

Despite the large number of recent findings and novelties, menin, the protein encoded by the gene responsible for multiple endocrine neoplasia type 1 syndrome, still remains a mystery. Although we have extensive knowledge about its interactions and functions, but it seems that we still cannot see the story in its full complexity. Here, the authors summarize recent findings and former basics on menin dynamics and function by following the way from regulation of MEN1 gene transcription and translation towards the role of menin within and outside of the nucleus, highlighting new data on the possible role of its interactions with nuclear receptors.

Parathyroid hormone-dependent hypercalcemia.

The past fifteen years have resulted in great progress in our understanding of the pathogenesis and pathophysiology of hypercalcemic disorders occurring either sporadically or in a familial setting. This paper briefly reviews the clinically most important new knowledge on sporadic and hereditary forms of parathyroid hormone-dependent hypercalcemic disorders, with special emphasis on familial syndromes such as multiple endocrine neoplasia type 1 and type 2A, hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, familial hypocalciuric hypercalcemia and neonatal severe primary hyperparathyroidism. In addition, the authors briefly present the most important clinical characteristics of 141 patients with parathyroid hormone-dependent hypercalcemia, including index patients of 18 families with hereditary disorders, diagnosed in a Hungarian endocrine center between 1997 and 2007.

Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family.

Von Hippel-Lindau disease (VHL) is a rare autosomal dominant disease characterized by development of cystic and tumorous lesions at multiple sites, including the brain, spinal cord, kidneys, adrenals, pancreas, epididymis and eyes. The clinical phenotype results from molecular abnormalities of the VHL tumor suppressor gene, mapped to human chromosome 3p25-26. The VHL gene encodes two functionally active VHL proteins due to the presence of two translational initiation sites separated by 53 codons.

MEN1 gene mutations in Hungarian patients with multiple endocrine neoplasia type 1.

Objective: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disorder associated with mutations of the MEN1 gene. MEN1 may present as a familial or a sporadic disorder, with multiple endocrine tumours including parathyroid adenomas or hyperplasias, and pancreatic endocrine and pituitary gland tumours. The aim of this study was to examine the prevalence and spectrum of MEN1 gene mutations in Hungarian patients with familial and sporadic MEN1 and in those with a MEN1-related state.

[Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity].

Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity. The physiologic response and sensitivity to glucocorticoids may significantly differ among species, individuals, tissues and cell types. The variability of the effect of endogenous and exogenous glucocorticoids is largely determined by genetic components, of which the authors review the knowledge on the glucocorticoid receptor gene.

Menin and its interacting proteins: elucidation of menin function.

The multiple endocrine neoplasia type 1 (MEN1) gene is a tumor suppressor gene encoding a 610 amino acid nuclear protein, menin. Although mutations of the MEN1 gene are responsible for MEN 1 syndrome, the intracellular functions of menin have not been fully elucidated. Recent data suggest that interactions between menin and menin-interacting proteins have a role in physiological regulation of cell growth, control of the cell cycle and genome stability, and are potentially important in bone development and multipotent mesenchymal stem cell differentiation.

Detection of the Bcl I polymorphism of the glucocorticoid receptor gene by single-tube allele-specific polymerase chain reaction.

The Bcl I polymorphism of the glucocorticoid receptor gene, recently identified as an intronic C to G change 646 nucleotides downstream of exon 2, has been associated with increased sensitivity to glucocorticoids and its potential relevance in metabolic disturbances and in various disorders has been extensively investigated. In the present study, we designed a single-tube allele-specific polymerase chain reaction for genotyping this polymorphism in peripheral blood DNA samples. When the Bcl I polymorphism was detected with this novel method in a cohort of 247 healthy subjects, the observed genotype distribution matched the Hardy-Weinberg equilibrium (100 subjects homozygous for the wild-type, 124 heterozygous and 23 homozygous for the mutant allele).

The role of lumican and keratocan genes in persistent subepithelial corneal haze following excimer laser photorefractive keratectomy.

Purpose: A retrospective clinical and a genetic study was carried out of severe subepithelial corneal haze occurring after photorefractive keratectomy (PRK). Since this clinical condition resembles the lumican-null mouse phenotype, mutation analysis of lumican and keratocan was carried out to investigate whether germline genetic alterations have an effect on development of severe corneal haze in humans. Corneal thickness, photoablation depth, and severity of persistent corneal haze were also analyzed.

Overrepresentation of the N363S variant of the glucocorticoid receptor gene in patients with bilateral adrenal incidentalomas.

Context: Some variants of the glucocorticoid receptor (GR) gene have been found to alter glucocorticoid sensitivity and have been associated with altered metabolic profiles.

Objective: The objective of the study was to examine whether N363S and ER22/23K variants of the GR gene may be associated with the development of adrenal incidentalomas and whether these variants may contribute to metabolic abnormalities frequently present in these patients.

Design, Setting, And Patients: The study included 99 patients with unilateral and 44 patients with bilateral adrenal incidentalomas, 102 population-matched control subjects, and 100 patients with type 2 diabetes mellitus.

[Clinical symptoms, diagnosis and treatment of multiple endocrine neoplasia type 1. Results of genetic screening in Hungarian patients].

Multiple endocrine neoplasia type 1 syndrome is an autosomal dominant disorder characterized by endocrinopathies involving the parathyroid glands, anterior pituitary gland, and pancreas. Also, it may be associated with foregut carcinoid, adrenocortical tumors and non-endocrine tumors. After reviewing the prevalence, genetic background, clinical symptoms, diagnosis and treatment of the disorder, the authors present their genetic screening method used for the detection of mutations of the MEN1 gene (prescreening of polymerase chain reaction amplified exons using temporal temperature gradient gel electrophoresis followed by direct DNA sequencing).

A rapid and simple method for detection of Asn363Ser polymorphism of the human glucocorticoid receptor gene.

Asn363Ser polymorphism of the human glucocorticoid receptor has been detected in approximately 4% of the population and it has been associated with several diseases and pathologic conditions. Here we describe a new, simple and cost-effective allele-specific PCR method for a rapid screening of this polymorphism. When compared to currently used PCR-based restriction fragment length polymorphism (RFLP) and direct DNA sequencing methods, the new allele-specific PCR method showed 100% accuracy for the detection of Asn363Asn and Asn363Ser genotypes.

Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1.

Identification of mutations, which cause genetic diseases can be difficult when the disease is caused by the mutation of a large gene, which contains multiple exons. Detection of these mutations by DNA sequencing can be made more efficient by using mutation detection methods for pre-screening to identify the affected exon and to screen for the presence of already identified mutations in family members. These screening methods include denaturing gradient gel electrophoresis (DGGE), temperature gradient gel electrophoresis (TGGE), single-strand conformation polymorphism, conformation-sensitive gel electrophoresis (CSGE), heteroduplex analysis and denaturing high-performance liquid chromatography (DHPLC).

Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene.

We report an unusual presentation of multiple endocrine neoplasia type 1 (MEN 1) in a young woman who was subsequently proven to have a novel mutation of the MEN1 gene. The young patient, aged 25 years, was investigated for abdominal discomfort and left upper abdominal pain. Her family history was unremarkable, except an unknown disorder of her father causing early death.

International cooperation in veterinary public health curricula using web-based distance interactive education.

The expanding field of Veterinary Public Health places new demands on the knowledge and skills of veterinarians. Veterinary curricula must therefore adapt to this new profile. Through the introduction of case studies dealing with up-to-date issues, students are being trained to solve (real-life) problems and come up with realistic solutions.