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View article: Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study
Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study Open
Aim: Familial hypercholesterolemia leads to the buildup of atherosclerotic plaques in the arteries, greatly elevating the risk of early-onset coronary heart disease. The objective of this study was to examine the clinical, laboratory, and …
View article: Neonatal Rhabdomyolysis: A Case Report and Review of the Literature
Neonatal Rhabdomyolysis: A Case Report and Review of the Literature Open
Rhabdomyolysis is a potentially life-threatening condition in pediatric patients, often triggered by various factors, such as infections, trauma, hereditary metabolic disorders, and certain medications. Elevated creatine kinase levels are …
View article: Use of preoperative ultrasonography adenoma size measurements for accurate localization estimation in parathyroid adenomas
Use of preoperative ultrasonography adenoma size measurements for accurate localization estimation in parathyroid adenomas Open
Background: It is known that Primary hyperparathyroidism (pHPT) is the most common cause of hypercalcemia. It is characterized by high serum calcium and parathyroid hormone (PTH) levels. Also, hyperactivity is seen in one or more of the pa…
View article: A Cause of Refractory Seizures: Fumarase Deficiency
A Cause of Refractory Seizures: Fumarase Deficiency Open
A bstract Fumarase is an enzyme involved in the Krebs cycle. Fumarase deficiency (FD) is an autosomal recessive disorder that is associated with neurocognitive dysfunctions. In the absence of fumarase, fumarate is accumulated and excreted …
View article: CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking Open
The transmembrane domain recognition complex (TRC) pathway is required for the insertion of C-terminal tail-anchored (TA) proteins into the lipid bilayer of specific intracellular organelles such as the endoplasmic reticulum (ER) membrane.…
View article: Initial computed tomography features of known inpatient ward versus intensive care admission COVID-19 cases: is there any difference?
Initial computed tomography features of known inpatient ward versus intensive care admission COVID-19 cases: is there any difference? Open
Objectives: The aim of this study was to evaluate initial computed tomography (CT), basic clinical and demographic features of cases with COVID-19 pneumonia with known inpatient ward and intensive care unit hospitalization. Methods: A tota…
View article: Theranostic potential of self-luminescent branched polyethyleneimine-coated superparamagnetic iron oxide nanoparticles
Theranostic potential of self-luminescent branched polyethyleneimine-coated superparamagnetic iron oxide nanoparticles Open
Polyethylenimine (PEI), which is frequently used for polyplex formation and effective gene transfection, is rarely recognized as a luminescent polymer. Therefore, it is usually tagged with an organic fluorophore to be optically tracked. Re…
View article: Effect of vitamin D deficiency on ocular blood flow
Effect of vitamin D deficiency on ocular blood flow Open
Aim: In this study, we aimed to evaluate the effects of vitamin D deficiency (VDD) on retrobulbar blood flow in healthy eyes.Material and Methods: In this prospective study, thirty eyes of 30 patients with VDD (Group 1) and 25 eyes of 25 i…
View article: Optic Nerve Head Elasticity and Corneal Biomechanics in Patients with Optical Disc Drusen and Optic Disc Edema
Optic Nerve Head Elasticity and Corneal Biomechanics in Patients with Optical Disc Drusen and Optic Disc Edema Open
Purpose: The purpose of the study is to evaluate the efficacy of ultrasound elastography (USE) in differentiating optic disc drusen (ODD) from optic disc edema (ODE) and to investigate the relationship between corneal biomechanics and opti…
View article: COVID-19 computed tomography reporting systems: inter-rater and inter-system agreement study
COVID-19 computed tomography reporting systems: inter-rater and inter-system agreement study Open
Aim: The aim of this study was to investigate agreements between COVID-19 reporting systems and radiologists. Materials and Methods: A total of 100 laboratory-confirmed COVID-19 cases (49 males, 51 females; age range 19-88 years) were retr…
View article: Is there a relationship between the morphological characteristics of developmental venous anomalies and the presence of parenchymal abnormalities?
Is there a relationship between the morphological characteristics of developmental venous anomalies and the presence of parenchymal abnormalities? Open
Objectives: Developmental venous anomaly (DVA) is a benign vascular malformation. Hyperintensity in the fluid-attenuated inversion recovery (FLAIR) sequence in the adjacent white matter has been previously identified. Although there are di…
View article: A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion
A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion Open
Background. Acute intermittent porphyria (AIP) is a rare, hereditary, metabolic disease caused by a defect in heme biosynthesis. Hormonal changes may trigger porphyria attacks. Case. Here we present a 17 -year- old adolescent refugee mothe…
View article: Evaluation of Sociodemographic Data, Breast Density, Presence of Menopause and Hematological and Histopathological Findings in Women Diagnosed with Breast Cancer
Evaluation of Sociodemographic Data, Breast Density, Presence of Menopause and Hematological and Histopathological Findings in Women Diagnosed with Breast Cancer Open
INTRODUCTION: Breast cancer is the most common type of cancer in women and accounts for 15% of cancer-related deaths. One of the strongest risk factors of breast cancer development, as well as high breast density, factors such as age, birt…
View article: Evaluation of Sonoelastography Compatibility on the Achilles Tendon Between Different Devices and Observers
Evaluation of Sonoelastography Compatibility on the Achilles Tendon Between Different Devices and Observers Open
Aim: To investigate the reliability of sonoelastography by comparing the Achilles tendon strain ratio obtained in healthy volunteers by different observers with different sonoelastography devices working on the same principle.Material and …
View article: Magnetofection of Green Fluorescent Protein Encoding DNA-Bearing Polyethyleneimine-Coated Superparamagnetic Iron Oxide Nanoparticles to Human Breast Cancer Cells
Magnetofection of Green Fluorescent Protein Encoding DNA-Bearing Polyethyleneimine-Coated Superparamagnetic Iron Oxide Nanoparticles to Human Breast Cancer Cells Open
Gene therapy is a developing method for the treatment of various diseases. For this purpose, the search for nonviral methods has recently accelerated to avoid toxic effects. A strong alternative method is magnetofection, which involves the…
View article: Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis
Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis Open
Biotin-thiamine-responsive basal ganglia disease is characterized by seizures, dystonia and encephalopathy attacks, with an acute-subacute onset in childhood. It causes cerebral damage especially with caudate head and putamen involvement a…
View article: Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes
Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes Open
Alpha methy acyl CoA racemase (AMACR) deficiency is a rare autosomal recessive peroxisomal disorder characterized by cholestatic liver disease in the neonatal period, and variable neurologic symptoms affecting central and peripheral nervou…
View article: Oral Research Presentations
Oral Research Presentations Open
10th International Congress on Psychopharmacology & 6th International Symposium on Child and Adolescent Psychopharmacology[Abstract:0110] [Addiction]Cessation of cigarette smoking in adolescents: s...
View article: Dietary Management of a Patient with Both Maple Syrup Urine Disease and Type I Diabetes
Dietary Management of a Patient with Both Maple Syrup Urine Disease and Type I Diabetes Open
Maple Syrup Urine disease (MSUD) is caused by the deficiency of the branched chain 2-ketoacid dehydrogenase complex. Type I diabetes mellitus (TIDM) is a chronic illness characterized by the body’s inability to produce insulin due to the a…
View article: The accuracy of Diffusion Weighted Magnetic Resonance Imaging in differentiation of malignant from benign gynecologic lesions
The accuracy of Diffusion Weighted Magnetic Resonance Imaging in differentiation of malignant from benign gynecologic lesions Open
ÖZET GİRİŞ ve AMAÇ: Bu çalışmanın amacı jinekolojik lezyonlarda benign malign ayrımında Difüzyon Ağırlıklı MR incelemenin doğruluğunu araştırmaktır
View article: Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases
Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases Open
Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1 . Methods This multicenter study addressed the course of disease for ea…
View article: Nutritional management in a total colonic aganglionosis with ileostomy: case report
Nutritional management in a total colonic aganglionosis with ileostomy: case report Open
Long segment Hirschsprung disease (LSHD) or total colonicagangliosis (TCA) is one of the rarest forms of Hirschsprung disease (HD). Itwas among high mortality diseases since near future. Better understanding ofclinical symptoms, early diag…
View article: Optic Nerve Head Elastometry in Both Eyes of Patients with Unilateral Non-arteritic Anterior Ischaemic Optic Neuropathy – May It Be a Novel Aspect of the Pathogenesis?
Optic Nerve Head Elastometry in Both Eyes of Patients with Unilateral Non-arteritic Anterior Ischaemic Optic Neuropathy – May It Be a Novel Aspect of the Pathogenesis? Open
In this prospective study, the biomechanical properties of optic nerve head (ONH) and cornea in both eyes of patients with non-arteritic anterior ischaemic optic neuropathy and healthy control eyes were investigated. ONH elastometry was me…
View article: A novel ultrasound-based technique to establish a correlation between disease activity and local carotid stiffness parameters in rheumatoid arthritis
A novel ultrasound-based technique to establish a correlation between disease activity and local carotid stiffness parameters in rheumatoid arthritis Open
Aim: Cardiovascular (CV) disease is the reason for most mortality cases in RA and cannot be explained only by the presence of traditional CV risk factors. In this study, we aimed to investigate the relationship between local carotid stiffn…
View article: Renal Cell Carcinoma Metastasis to Ipsilateral Parotid and Submandibular Glands: Report of a Case with Sonoelastographic Findings
Renal Cell Carcinoma Metastasis to Ipsilateral Parotid and Submandibular Glands: Report of a Case with Sonoelastographic Findings Open
The etiology of RCC is still unknown and metastatic involvement can be seen at unexpected tissue and organs. Metastatic disease should be considered when a salivary gland mass detected in patients with RCC history. SEL examination would be…
View article: Calsified Tendinitis with Intratendinous Mass Apperance at Shoulder Sonography. Case Report: US and MRI Findings
Calsified Tendinitis with Intratendinous Mass Apperance at Shoulder Sonography. Case Report: US and MRI Findings Open
Kalsifiye tendinit, kalsiyum hidroksiapatit kristallerinin değişik şekil, boyut ve bölgelerde depolanması ile karakterize heterojen bir hastalıktır. İlk kez 1872 yılında Duplay tarafından tanımlanmıştır. Etiyolojisi net bilinmeyen bu tablo…
View article: Cobalamin C Deficiency: Case Report of Two Different Clinical Presentations
Cobalamin C Deficiency: Case Report of Two Different Clinical Presentations Open
Cobalamin C deficiency (CblC) is the most frequent inborn error of cobalamin (Cbl) metabolism, which has a wide clinical spectrum.Cbl C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesi…
View article: Depression and anxiety among parents of phenylketonuria children
Depression and anxiety among parents of phenylketonuria children Open
A subset of parents with PKU patients have an anxiety or depressive disorder. Supportive services dealing with the parents of chronically ill children such as PKU are needed in order to reduce the level of anxiety.