Molecular characterization of novel and rare DNA variants in patients with galactosemia.

Galactosemia is an inherited disorder caused by mutations in the three genes that encode enzymes implicated in galactose catabolism. Currently, the only available treatment for galactosemia is life-long dietary restriction of galactose/lactose, and despite treatment, it might result in long-term complications. Here, we present five cases of newborn patients with elevated galactose levels, identified in the context of the newborn screening program.

First Case of Zoonotic Transmission of Streptococcus equi Subspecies zooepidemicus From Cat to Human.

subspecies is a pathogen of veterinary interest that causes disease in horses, pigs, and dogs and is recognized as an emerging cause of feline respiratory disease. Human zoonotic disease is rare but can occur in patients who are taking care of horses and via consumption of unpasteurized animal products. We describe a case of soft tissue infection and bacteremia in an elderly patient who had contact with a cat presenting respiratory symptoms and was treated with antibiotics.

Deregulation of Autophagy and Apoptosis in Patients with Myelodysplastic Syndromes: Implications for Disease Development and Progression.

(1) Background: Myelodysplastic neoplasms (MDSs) consist of a group of blood malignancies with a complex biological background. In this context, we investigated the role of autophagy and apoptosis in the pathogenesis and progression of MDSs. (2) Methods: To address this issue, we performed a systematic expression analysis on a total of 84 genes in patients with different types of MDSs (low/high risk of malignancy) versus healthy individuals.

Induction of MMP-3 and MMP-9 expression during Helicobacter pylori infection via MAPK signaling pathways.

Background And Aims: Helicobacter pylori (H. pylori)-induced gastric pathology involves remodeling of extracellular matrix mediated by aberrant activity of matrix metalloproteinases (MMPs). We have previously shown that in vitro H.

The effectiveness of intratympanic steroid injection in addition to systemic corticosteroids in the treatment of idiopathic sudden sensorineural hearing loss.

There is a lot of controversy about the efficacy of intratympanic steroid (ITS) therapy in idiopathic sudden sensorineural hearing loss (ISSHL). ITS are reported to have effect on ISSNHL and ITS with additional systemic therapy are also effective. In the primary treatment of ISSHL, achieving the correct diagnosis rapidly is paramount, as early initial treatment greatly increases the chance of hearing recovery.

Polydactyly: Clinical and molecular manifestations.

Polydactyly is a malformation during the development of the human limb, which is characterized by the presence of more than the normal number of fingers or toes. It is considered to be one of the most common inherited hand disorders. It can be divided into two major groups: Non-syndromic polydactyly or syndromic polydactyly.

Genetics of congenital anomalies of the hand.

Congenital anomalies of the hand are malformations occurring during the development of the human limb, and present as isolated disorders or as a part of a syndrome. During the last years, molecular analysis techniques have offered increasing knowledge about the molecular basis of hand malformations. Disturbances in the signaling pathways during the development of the upper limb result in malformations of the upper extremity.

Adult hypophosphatasia treated with reduced frequency of teriparatide dosing.

We report a 41-year-old man diagnosed with the adult form of hypophosphatasia (HPP) and treated for 4 years with less frequent than conventional daily doses of teriparatide (TPTD). He presented with a history of three low-energy fractures and low bone mineral density (BMD) ineffectively treated with bisphosphonate. We identified within , the gene that encodes the homodimeric "tissue-nonspecific" isoenzyme of alkaline phosphatase (ALP) and underlies HPP, a heterozygous missense mutation (c.

Superiorly based subperiosteal orbital abscess: an uncommon presentation.

A 32-year-old female patient presented with severe facial pain, right eye proptosis and diplopia. Endoscopy revealed ipsilateral crusting, purulent discharge and bilateral nasal polyps. Imaging demonstrated a subperiosteal abscess on the roof of the right orbit.

Impact of Infection and Its Major Virulence Factor CagA on DNA Damage Repair.

infection induces a plethora of DNA damages. Gastric epithelial cells, in order to maintain genomic integrity, require an integrous DNA damage repair (DDR) machinery, which, however, is reported to be modulated by the infection. CagA is a major virulence factor, associated with increased risk for gastric carcinogenesis.

Investigating the genetic characteristics of CAD: Is there a role for myocardial perfusion imaging techniques?

Several environmental and genetic factors have been found to influence the development and progression of coronary artery disease (CAD). Although the effects of the environmental hazards on CAD pathophysiology are well documented, the genetic architecture of the disease remains quite unclear. A number of single-nucleotide polymorphisms have been identified based on the results of the genome-wide association studies.

DNA methylation profiles in chronic lymphocytic leukemia patients treated with chemoimmunotherapy.

Background: In order to gain insight into the contribution of DNA methylation to disease progression of chronic lymphocytic leukemia (CLL), using 450K Illumina arrays, we determined the DNA methylation profiles in paired pre-treatment/relapse samples from 34 CLL patients treated with chemoimmunotherapy, mostly (n = 31) with the fludarabine-cyclophosphamide-rituximab (FCR) regimen.

Results: The extent of identified changes in CLL cells versus memory B cells from healthy donors was termed "epigenetic burden" (EB) whereas the number of changes between the pre-treatment versus the relapse sample was termed "relapse changes" (RC). Significant (p < 0.

Assessing Cardiovascular Risk in Patients with Diabetes: An Update.

The globalization of the Western lifestyle has resulted in increase of diabetes mellitus, a complex, multifactorial disease. Diabetes mellitus is a condition often related to the disorders of the cardiovascular system. It is well established that three quarters of diabetics, aged over 40, will die from cardiovascular disease and are more likely than non-diabetics to die from their first cardiovascular event.

PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk.

PALB2 loss-of-function variants play an important role in breast, pancreatic and possibly, ovarian and gastric cancer susceptibility. Their frequency can be influenced by founder effects, already described in some populations. Herein, we have assessed the possible founder effect of PALB2 c.

Thumb duplication: molecular analysis of different clinical types.

Purpose: Molecular analysis of different types of thumb duplication and identification of new suspected gene mutations.

Materials And Methods: In a series of patients operated for polydactyly, DNA was extracted from blood samples collected preoperatively. Among these, the samples of two patients with thumb duplication (Wassel types III and IV) were initially selected for molecular analysis.

Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece.

RAD51D gene's protein product is known to be involved in the DNA repair mechanism by homologous recombination. RAD51D germline mutations have been recently associated with ovarian and breast cancer (OC and BC, respectively) predisposition. Our aim was to evaluate the frequency of hereditary RAD51D mutations in Greek patients.

Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients.

Germline CHEK2 mutations confer increased cancer risk, for breast and other types, which is variable depending on the specific mutation. Of these, Large Genomic Rearrangements (LGRs) have been rarely reported; to date only eight LGRs have been published with just the Czech founder mutation, the deletion of exons 9 and 10, being molecularly characterized and studied extensively. The present study aimed to molecularly define and determine the contribution of two rare, apparently novel CHEK2 LGRs, among Greek breast cancer patients.

Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the and Genes.

Introduction: Craniosynostosis, the premature fusion of cranial sutures, is usually divided into 2 major categories: syndromic and nonsyndromic. Mutations in the , , , , and genes cause the common craniosynostosis syndromes Muenke, Crouzon and Crouzon with acanthosis nigricans, Apert, Pfeiffer, Saethre-Chotzen, and Craniofrontonasal. Overlapping features among craniosynostosis syndromes, phenotypic heterogeneity even within the same syndrome, especially in the case of Muenke syndrome, and inadequate clinical evaluation can lead to misdiagnosis, which molecular testing can help clarify.

Impact of renin-angiotensin-aldosterone system polymorphisms on myocardial perfusion: Correlations with myocardial single photon emission computed tomography-derived parameters.

Background: Renin-angiotensin-aldosterone system (RAAS) has an important role in atherosclerosis. We investigated the effects of six RAAS gene polymorphisms on myocardial perfusion.

Methods And Results: We examined 810 patients with known or suspected coronary artery disease (CAD) using stress-rest myocardial single-photon emission computed tomography.

Tumor Protein 53 Gene Mutations Without 17p13 Deletion Have No Significant Clinical Implications in Chronic Lymphocytic Leukemia. Detection of a New Mutation.

Background: The tumor protein p53 (TP53) gene may be inactivated through 17p13 deletion, somatic mutations, or both. In chronic lymphocytic leukemia (CLL) although 17p13 deletion is correlated with poor prognosis, the role of sole TP53 mutations remains controversial.

Materials And Methods: We carried out a mutation analysis of TP53 gene in 72 patients with CLL.