Utility of Optical Genome Mapping in Repeat Disorders.

Genomic repeat sequences are patterns of nucleic acids that exist in multiple copies throughout the genome. More than 60 Mendelian disorders are caused by the expansion or contraction of these repeats. Various specific methods for determining tandem repeat variations have been developed.

Being old is like…: perceptions of aging among healthcare profession students.

Background: This research explores the perspectives and attitudes of university students in health sciences towards aging and older adults. Given the intricate interplay of factors influencing attitudes toward aging, coupled with the demographic shift in Turkey from a youthful to an aging population, the study aims to discern how a cohort of university students perceives the aging process.

Methods: Employing a mixed-methods research strategy, which enhances the depth of data interpretation, the study utilized a questionnaire for quantitative data collection.

Surface defects due to bacterial residue on shrimp shell.

The changes in the surface chemistry and morphological structure of chitin forms obtained from shrimp shells (ShpS) with and without microorganisms were evaluated. Total mesophilic aerobic bacteria (TMAB), estimated Pseudomonas spp. and Enterococcus spp.

Selective adsorption of single and binary dyestuffs by citrus peel: Characterization, and adsorption performance.

The powdered citrus peel, which has been replaced with sodium hydroxide, was used in this study to test how well methylene blue and reactive black 5 dyestuff absorbed one or both. To find out about the texture and surface chemistry of modified citrus peel, Fourier transform infrared spectroscopy and scanning electron microscope analyses were carried out. Fourier transform infrared spectroscopy data revealed the presence of amphoteric radicals on the modified citrus peel surface, indicating the effective adsorption of methylene blue and reactive black 5.

Molecular analyses of ADAMTS-1, -4, -5, and IL-17 a cytokine relationship in patients with ulcerative colitis.

Background: Ulcerative colitis (UC) is a chronic inflammatory bowel disease that develops due to the impaired immune response in genetically susceptible individuals, and its etiopathogenesis is not fully elucidated. IL-17 A is a cytokine that is produced by a type of immune cell called Th17 cells and is involved in the immune response and inflammation. On the other hand, ADAMTS-1, -4, and - 5 are enzymes that are involved in the breakdown of extracellular matrix proteins, including proteoglycans, which are important components of the intestinal wall.

Use of different food wastes as green biosorbent: isotherm, kinetic, and thermodynamic studies of Pb.

Lead (Pb) can contaminate waters from many sources, especially industrial activities. This heavy metal is an amphoteric, toxic, endocrine-disrupting, bioaccumulative, and carcinogenic pollutant. One of the effective and economical processes used to remove lead from water is adsorption.

TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C> T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA.

Background: Heterozygous gain-of-function mutations in the glucokinase (GCK) gene cause hyperinsulinaemic hypoglycaemia (GCK-HI), while loss-of-function mutations lead to a monogenic type of diabetes (GCK-MODY). We, herein, report a heterozygous GCK gene mutation in a large family with GCK-MODY and insulinoma in one individual from the same family.

Patients And Methods: The proband, an 11-year-old male, was referred for asymptomatic mild hyperglycemia (fasting glucose:121 mg/dL) and HbA1c of 6.

Evaluation of a new transcutaneous bilirubinometer in newborn infants.

To avoid brain damage in newborn infants, effective tools for prevention of excessive neonatal hyperbilirubinemia are needed. The objective of this study was to evaluate a new transcutaneous bilirubinometer (JAISY). For this purpose, 930 bilirubin measurements were performed in 141 newborn infants born near-term or at term (gestational age 35-41 weeks; postnatal age 1-6 days; 71 boys; including 29 infants with darker skin) and compared to those of a previously validated instrument (JM105).

Complementary Approaches in Fetal Genetic Diagnosis: Decision-Making Process and Alternative Choices for Clinicians in a Secondary Health Care Institution.

Objectives: The aim of this study was to determine indications of invasive, genetic results of conventional karyotyping and chromosomal microarray analysis and culture failure rates to discuss possible solution options and guide our clinical choices.

Materials And Methods: Fetal samples were analyzed by conventional karyotyping, array comparative genomic hybridization, fluorescence in situ hybridization.

Results: Failure rates of chorionic villus sampling (CVS) and amniocentesis were as follows, respectively: 4.

Adsorption capability of brewed tea waste in waters containing toxic lead(II), cadmium (II), nickel (II), and zinc(II) heavy metal ions.

Recently, the search for low-cost eco-friendly adsorbents has become one of the main objectives of researchers. The aim of this study was to test the removal of four heavy metals, namely lead (Pb), zinc (Zn), nickel (Ni) and cadmium (Cd), from a simulated watery solution using brewed tea waste as a potentially suitable adsorbent. The effects of pH levels (2.

Coincidental occurance of episodic ataxia and multiple sclerosis: a case report and review of the literature.

Introduction: Episodic ataxia is a clinical condition characterized by episodes of balance and coordination problems that last minutes to hours. It can be inherited or sporadic, and it can be seen sporadically in epilepsy, basilar migraine, multiple sclerosis, vertebrobasilar ischaemia, and labyrinth diseases.

Methods: In this article, we present a case of a patient who had a coincidental occurrence of episodic ataxia type 2 (EA2) and multiple sclerosis (MS) Results: The patient who had a previously unidentified heterozygous mutation in the calcium voltage-gated channel subunit alpha 1 A gene (CACNA1A).

Systematic Relations between Affective and Sensory Material Dimensions in Touch.

Participants manually explored 47 solid, fluid, and granular materials and rated them according to a list of sensory and affective attributes. In principal component analyses (PCA) of sensory ratings, we extracted six dimensions: Fluidity, Roughness, Deformability, Fibrousness, Heaviness, and Granularity. PCAs on affective ratings revealed Valence, Arousal, and Dominance.

Effects of Postsurface Treatments Including Femtosecond Laser and Aluminum-oxide Airborne-particle Abrasion on the Bond Strength of the Fiber Posts.

Context: Bond strength of fiber posts.

Aims: The purpose of this study was to evaluate the effect of different Post Surface treatment techniques on the push-out bond strength of the quartz fiber posts.

Subjects And Methods: A total of 30 maxillary central incisors were decoronated at cementoenamel junction.

Disinfection of polyvinyl siloxane impression material by gaseous ozone.

Statement Of Problem: Impression materials must be disinfected to avoid cross-contamination before they are sent to the dental laboratory. However, whether aqueous state disinfectants affect material wettability is unclear.

Purpose: The purpose of this in vitro study was to compare the efficacy of gaseous ozone and sodium hypochlorite (NaOCl) in disinfecting light-body consistency hydrophilized polyvinyl siloxane (PVS) impression specimens inoculated with a cocktail of Escherichia coli, Staphylococcus aureus, Pseudomonas aeruginosa, and Enterococcus faecalis.

The Effects of Laser with Different Parameters and Crosshatching on Fibroblast Adhesion and Proliferation to Implant Surfaces.

Purpose: To compare the adhesion and proliferation effect of HGF-1 cells on pure titanium disks when the surfaces are unprocessed (machined surfaces after slicing) or modified with a laser.

Materials And Methods: Twenty-eight titanium disks were divided into four groups. Three surface topographies were created using an erbium fiber laser: group 1 (unidirectional application [no crosshatch]), group 2 (crosshatching in two directions), and group 3 (crosshatching in three directions).

Pentraxin 3, ischemia-modified albumin, and myeloperoxidase in predicting a cardiac damage in acute carbon monoxide poisoning.

Background: Carbon monoxide (CO) poisoning is associated with cardiac injuries or manifestations, frequently attributing to direct hypoxic damage at cellular level. For this, the aims were to evaluate the role of serum pentraxin 3 (PTX 3), ischemia-modified albumin (IMA), and myeloperoxidase (MPO) as an early biomarker for cardiac damage when compared to cardiac troponin I (cTnI) and creatine kinase-MB fraction (CK-MB) in adult patients with acute CO poisoning.

Methods: Forty patients with acute CO poisoning admitted to the emergency department.

Removals of non-analogous OTC and BaP in AMCBR with and without primary substrate.

Anaerobic biodegradation of mixed non-analogous two substrates was studied in a binary system with and without the primary substrate using an anaerobic multichamber bed (AMCBR). In the binary mixture, the biodegradation of less-degradable oxytetracycline (OTC) was restarted in the presence of more degradable benzo[a]pyrene (BaP) in the initial runs of the AMCBR, but enhanced biodegradation of the more recalcitrant OTC occurs in the later runs of the AMCBR due to enhanced biomass growth on dual substrates without the primary carbon source. The biodegradation yields of the OTC, BaP were discussed with sole-substrate systems and with the dual substrate system in the presence of the primary substrate.

Effects of processing on the properties of chitosan/cellulose nanocrystal films.

Biocomposites of chitosan (CS)/cellulose nanocrystals (CN) were prepared by using solution casting method. Influences of solution preparation method and CN content on the properties of composites were investigated. Mechanical stirring/ultrasonication or microfluidization were used to disperse nanocrystals in the chitosan matrix.

Pustular eruption induced by etanercept in a patient with ankylosing spondylitis: a rare side effect.

Etanercept is a tumor necrosis factor alpha (TNF-a) antagonist with anti-inflammatory effects. It is used in the treatment of dermatologic and rheumatologic diseases such as rheumatoid arthritis, polyarticular juvenile rheumatoid arthritis, psoriatic arthritis and ankylosing spondylitis. However, etanercept has various cutaneous and systemic side effects.

Sudden developing convulsion during interscalene block: Does propofol anesthesia diminish plasma bupivacaine level?

We aim to review local anesthetic systemic toxicity (LAST) due to suddenly developing convulsion during interscalene block in a 67-year-old patient undergoing shoulder surgery.

Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient.

Majewski osteodysplastic primordial dwarfism type II (MOPD II) is an unusual autosomal recessive inherited form of primordial dwarfism, which is characterized by a small head diameter at birth, but which also progresses to severe microcephaly, progressive bony dysplasia, and characteristic facies and personality. This report presents a case of a five-year-old girl with MOPD II syndrome. The patient was referred to our clinic with the complaint of severe tooth pain at the left mandibular primary molar teeth.

Multicenter retrospective analysis regarding the clinical manifestations and treatment results in patients with hairy cell leukemia: twenty-four year Turkish experience in cladribine therapy.

In this multicenter retrospective analysis, we aimed to present clinical, laboratory and treatment results of 94 patients with Hairy cell leukemia diagnosed in 13 centers between 1990 and 2014. Sixty-six of the patients were males and 28 were females, with a median age of 55. Splenomegaly was present in 93.

Acute Phase Reaction after Femur Fracture in a Child with Griscelli Syndrome.

Griscelli syndrome (GS) is an autosomal recessive disorder that is characterized by partial albinism of the skin and hair shaft. Prompt and early diagnosis is a crucial step for the follow up and management of GS, which would otherwise dramatically decrease the life expectancy of the patients. This case report presents the clinical course of a femoral fracture treated with closed reduction and pelvic-pedal cast, and progression of acute phase reaction during the follow up period.

Pre-treatment of bupivacaine-induced cardiovascular depression using different lipid formulations of propofol.

Background: Pre-treatment with lipid emulsions has been shown to increase lethal doses of bupivacaine, and the lipid content of propofol may alleviate bupivacaine-induced cardiotoxicity. The aim of this study is to investigate the effects of propofol in intralipid or medialipid emulsions on bupivacaine-induced cardiotoxicity.

Methods: Rats were anaesthetised with ketamine and were given 0.