Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array.

We present a series of microdeletion and microduplication syndromes (MMSs) observed in our clinical practice over a three-year period from 2020 to 2023. Microdeletion and microduplication syndromes, characterized by chromosomal deletions or duplications of less than five megabases, pose challenges in terms of diagnosis, especially prenatal and clinical management. Clinically, MMSs encompass a broad spectrum of manifestations, ranging from intellectual disability and developmental delays to congenital anomalies, facial dysmorphisms, and neurobehavioral abnormalities.

Comparative Study of the Nutritional, Phytochemical, Sensory Characteristics and Glycemic Response of Cookies Enriched with Lupin Sprout Flour and Lupin Green Sprout.

This study aimed to compare the nutritional, phytochemical, and sensory characteristics of wheat flour (WF) cookies enriched with different proportions of lupin sprout flour (LSF) and those with different proportions of lupin green sprout (LGS). To achieve this, a control cookie (CC); three cookies with 10%, 20%, and 30% of LSF, respectively, CLSF1, CLSF2, and CLSF3; and three other cookies (CLGS1, CLGS2, and CLGS3) with 10%, 20%, and 30%, respectively, were produced. The proximate composition of each cookie was analyzed using AOAC methods.

Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods.

Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome. The prevalence of tetraploidy/diploidy mosaicism cases is extremely rare in the human population.

Thermophysical Characteristics of Clay for Efficient Rammed Earth Wall Construction.

This case study focuses on twelve compacted clay soil samples to understand their fundamental physical and thermal properties. For each sample, the density, thermal conductivity, thermal diffusivity, specific heat, and drying shrinkage were assessed. The identification and characterisation of the materials were also carried out by positioning them into the ternary diagram based on the percentage of sand, silt, and clay.

Strategies to Formulate Value-Added Pastry Products from Composite Flours Based on Spelt Flour and Grape Pomace Powder.

In recent years, sustainability has promoted new research to develop reformulation strategies for value-added food products by exploiting grape pomace. Grape pomace powder (GP) was used to substitute spelt flour (SF) at 0, 5, 10, 15, 20 and 25% to obtain three types of fortified pastry products: biscuits and cakes involving a chemical leavening agent, and rolls leavened by yeast. Proximate composition, total phenolic content (TPC), total flavonoids content (TFC), 1,1-diphenyl-2-picrylhydrazyl (DPPH) radical scavenging activity and ferric-reducing antioxidant power (FRAP) along with physical characteristics and sensory analysis of the enriched products were considered.

Research on Thermal Insulation Performance and Impact on Indoor Air Quality of Cellulose-Based Thermal Insulation Materials.

Worldwide, the need for thermal insulation materials used to increase the energy performance of buildings and ensure indoor thermal comfort is constantly growing. There are several traditional, well-known and frequently used thermal insulation materials on the building materials market, but there is a growing trend towards innovative materials based on agro-industrial waste. This paper analyses the performance of 10 such innovative thermal insulation materials obtained by recycling cellulosic and/or animal waste, using standardised testing methods.

Nutritional, Physico-Chemical, Phytochemical, and Rheological Characteristics of Composite Flour Substituted by Baobab Pulp Flour ( L.) for Bread Making.

The aim of this paper is to improve the nutritional quality of bakery products by replacing wheat flour (WF) with different proportions (10%, 20%, and 30%) of baobab flour (BF). The composite flours and bread obtained were evaluated from nutritional, physical-chemical, phytochemical, organoleptic, and rheological points of view. The results obtained show that BF is a rich source of minerals (K: 13,276.

Gastrointestinal stromal tumor. A case report with over 5 years follow-up.

Gastro-intestinal stromal tumors (GIST) represent a type of mesenchymal tumors, located in the digestive tract wall, with the possibility of alternate locations such as the caul or the mesentery. The relapse prognosis is closely corelated with the dimensions of the tumor, the rate at which tumor cells divide, the cellularity of the tumor and the nuclear pleomorphism. The definitive treatment for these types of tumors is surgical resection, associated with tyrosine- kinase inhibitors.

The Influence of Maternal Psychological Manifestations on the Mother-Child Couple during the Early COVID-19 Pandemic in Two Hospitals in Timisoara, Romania.

Background and objectives: The postpartum maternal physical and psychological state played a fundamental role in the mother−child relationship at the beginning of the COVID-19 pandemic. The aim of the study is to analyze the influence of maternal psychological manifestations on the mother−child couple through three objectives (briefly expressed): (I) Determination of the main acute and chronic conditions of newborns/infants. (II) Verification of the hypothesis of the existence of a link between the following neonatal variables: gestational age, birth weight, number of days of hospitalization, and specific neonatal therapies (oxygen, surfactant, and blood products’ transfusion).

Postpartum Maternal Emotional Disorders and the Physical Health of Mother and Child.

Purpose: The purpose of this study is to identify the relationships between postpartum emotional manifestations and various neonatal variables, as well as variables within this category, in the context of hospitalization together after birth.

Patients And Methods: Between 1 March 2020 and 1 September 2020, a cross-sectional research design was used including mother-child couples (112 mothers, 121 newborns - 13 twins/triplets).

Results: Using a -test for independent samples, we observed: a) the symptoms of depression were more severe in mothers of newborns hospitalized in neonatal intensive care units (NICUs) [(110) = 4.

Analysis of Deaths and Favorable Developments of Patients with SARS-CoV-2 Hospitalized in the Largest Hospital for Infectious Diseases and Pneumo-Phthisiology in the West of the Country.

Purpose: Romania is one of the European countries that has been hit the hardest by the severe acute respiratory syndrome caused by the new coronavirus SARS-CoV-2, with over 1.91 million reported cases and over 59,257 deaths. The aim of this study was to identify the main predictors of death in hospitalized patients.

Left heart hypoplasia operated using double pulmonary arterial banding with double arterial duct stenting: A case report.

Hypoplastic left heart syndrome is a heterogeneous group of congenital cardiac malformations which associates hypoplastic/aplastic left ventricle, mitral and aortic valve, hypoplastic/atresia and severe aortic artery coarctation, and represents a medical-surgical emergency. We present a case of a newborn hospitalised in three clinics (two clinics from Timisoara and one from Vienna), and operated for hypoplastic left heart syndrome, without aortic coarctation, using a mixed technique cardiovascular repair surgery. The initial therapeutic conduct included maintaining the permeability of the arterial canal with prostaglandin E1.

Inducible knockout of CHUK/IKKα in adult chondrocytes reduces progression of cartilage degradation in a surgical model of osteoarthritis.

CHUK/IKKα contributes to collagenase-driven extracellular matrix remodeling and chondrocyte hypertrophic differentiation in vitro, in a kinase-independent manner. These processes contribute to osteoarthritis (OA), where chondrocytes experience a phenotypic shift towards hypertrophy concomitant with abnormal matrix remodeling. Here we investigated the contribution of IKKα to OA in vivo.

Effect of dietary chromium supplementation on meat nutritional quality and antioxidant status from broilers fed with Camelina-meal-supplemented diets.

Poultry meat is a valuable source of nutrients and the enrichment with health-promoting substances such as polyunsaturated fatty acids (n-3 PUFA) is an important factor for consumers' choice. Camelina meal (Camelina sativa) is an animal feedstuff used to achieve this goal, but the administration of n-3 PUFA-enriched diets in broiler nutrition can accelerate the oxidative processes in meat leading to a decreased quality of final product. The aim of this study was to investigate the effect of the organic Cr as chromium picolinate (CrPic) on meat quality, fatty acid profile of fat and oxidative stability of meat from broilers fed supplemented dietary Camelina meal.

Red Grape Pomace Rich in Polyphenols Diet Increases the Antioxidant Status in Key Organs-Kidneys, Liver, and Spleen of Piglets.

The aim of this work was to evaluate the influence of a diet containing 5% dried GP on the antioxidant status (total antioxidant status (TAS), antioxidant enzyme activity (catalase-CAT, superoxide dismutase-SOD, and gluthatione peroxidase-GPx), and lipid peroxidation) on the key organs of the liver, kidneys, and spleen in relation to health status as indicated by blood biochemical parameters and total polyphenol content in the blood, organs (liver, spleen, kidney, mesenteric lymph nodes, heart, and brain) and muscle in piglets. The GP diet results in a significant increase of TAS in the liver, spleen, and kidneys, with increased CAT activity in the spleen and kidneys, increased SOD activity in the liver, kidneys, and spleen, and increased GPx activity in the kidneys, as well as a decrease in lipid peroxidation in the liver and kidneys. The GP included in the piglets' feed contained polyphenols that showed antioxidant activity and were absorbed in the plasma, contributing to maintaining the good health of the animals.

Synbiotic combination of prebiotic grape pomace extract and probiotic sp. reduced important intestinal inflammatory markers and in-depth signalling mediators in lipopolysaccharide-treated Caco-2 cells.

Inflammatory bowel diseases (IBD) are a major problem for public health, with an increased incidence and impact on life quality. The effect of pre- and probiotic combination has been less studied in IBD. Using genomic and proteomic array technologies, this study examined the efficacy of a new combination of natural alternatives: prebiotics (grape pomace extract, GP) and probiotics (lactobacilli mixture, Lb mix) on inflammation and intracellular signalling routes in a cellular model of inflammation.

A rare case diagnosed as dentin dysplasia type II.

According to their phenotypic features, the hereditary dentin defects in humans are categorized in two major classes: dentinogenesis imperfecta and dentin dysplasia. At its turn, the dentin dysplasia is subdivided in dentin dysplasia type I and dentin dysplasia type II, a milder clinical manifestation of the condition. Here we report the clinical and radiographic findings of dentin dysplasia type II in two members of a family, a young adult female and her mother.

Elf3 Contributes to Cartilage Degradation in vivo in a Surgical Model of Post-Traumatic Osteoarthritis.

The E-74 like factor 3 (ELF3) is a transcription factor induced by inflammatory factors in various cell types, including chondrocytes. ELF3 levels are elevated in human cartilage from patients with osteoarthritis (OA), and ELF3 contributes to the IL-1β-induced expression of genes encoding Mmp13, Nos2, and Ptgs2/Cox2 in chondrocytes in vitro. Here, we investigated the contribution of ELF3 to cartilage degradation in vivo, using a mouse model of OA.

Effects of a diet containing dried grape pomace on blood metabolites and milk composition of dairy cows.

Background: The effect of a diet containing 15% grape pomace (GP) on the general health status and milk quality of dairy cows was assessed by plasma biochemistry and total polyphenol (TP) content, milk polyphenols, milk composition and milk protein fractions.

Results: Among the polyphenols measured by liquid chromatography-mass spectroscopy in GP, in feed containing GP (GP+) or not containing GP (GP-), gallic acid and epicatechin were present in the highest concentrations (67.58 and 19.

The challenges of managing and following-up a case of short bowel in eastern europe.

Introduction: This article reflects on the plight of patients with short bowel syndrome (SBS) in developing countries. SBS is life threatening, rare, complex and often not considered a priority by healthcare planners in the developing countries because of the high cost of treatment. Data was collected and analyzed from 3 different hospitals in two different countries (Romania and Austria) from November 2013 to February 2016 CASE PRESENTATION: The patient had an emergency surgery for volvulus as a result of an extensive ischemic necrosis, with just 80cm of the bowel left and no ileocecal valve after enterectomy.

Progressive cell-mediated changes in articular cartilage and bone in mice are initiated by a single session of controlled cyclic compressive loading.

We previously showed that repetitive cyclic loading of the mouse knee joint causes changes that recapitulate the features of osteoarthritis (OA) in humans. By applying a single loading session, we characterized the temporal progression of the structural and compositional changes in subchondral bone and articular cartilage. We applied loading during a single 5-minute session to the left tibia of adult (26-week-old) C57Bl/6 male mice at a peak load of 9.

Mouse models of osteoarthritis: surgical model of posttraumatic osteoarthritis induced by destabilization of the medial meniscus.

The surgical model of destabilization of the medial meniscus (DMM) has become a gold standard for studying the onset and progression of posttraumatic osteoarthritis (OA). The DMM model mimics clinical meniscal injury, a known predisposing factor for the development of human OA, and permits the study of structural and biological changes over the course of the disease. In addition, when applied to genetically modified or engineered mouse models, this surgical procedure permits dissection of the relative contribution of a given gene to OA initiation and/or progression.

Qualitative and quantitative analysis of systems and synthetic biology constructs using P systems.

Computational models are perceived as an attractive alternative to mathematical models (e.g., ordinary differential equations).

[Incidence, associated factors, and follow-up of hospital heart failure complicating acute anterior myocardial infarction successfully treated by primary angioplasty].

Unlabelled: Heart failure (HF) complicating acute myocardial infarction (AMI) is of poor prognosis and is often associated with patient's characteristics and success of reperfusion strategies. However, few data is available regarding the high-risk subgroup of patients with anterior AMI treated successfully by primary angioplasty. The aim of the study was to assess the incidence, associated factors, and the future of HF occurring during hospitalisation, in the setting of anterior AMI treated successfully by primary angioplasty.