The aim of this study is to retrospectively analyze the cases who underwent upper and lower gastrointestinal system endoscopic evaluation between 2021-2022 in the endoscopy unit, which was established for the first time in a second level hospital, and to emphasize the importance of endoscopy units in district hospitals located far from central hospitals. The study comes to the fore in terms of dealing with the data of a district hospital where an endoscopy unit was established for the first time. The data of 440 patients who underwent endoscopic evaluation were analyzed. The study included 320 patients who underwent upper gastrointestinal tract and 120 who underwent lower gastrointestinal tract endoscopic examination. The endoscopic and pathological diagnoses given to patients were examined based on the data obtained, and descriptive statistics were performed. The cases undergoing upper gastrointestinal endoscopic examination had a mean age of 53.93±16.14 years, and those undergoing lower gastrointestinal tract endoscopic examination had a mean age of 53.71±15.86. Of cases undergoing upper gastrointestinal tract endoscopic examination, 70.3% had antral gastritis (n=225), 34.8% had ulcers (n=111), 10.3% had hiatus hernia (n=28), 9.1% had esophagitis (n=29), and 9.1% had duodenitis (n=29). Among the cases endoscopically diagnosed with cancer, 0.9% were localized in the distal esophagus (n=3) and 0.6% in the antrum (n=3). Of cases undergoing lower gastrointestinal tract endoscopic examination, 20% were diagnosed with polyp (n=24), 10% with diverticulum (n=12), 3.3% with hemorrhoidal disease (n=4), and 5% with cancer (n=6). As a result, the data obtained from the study emphasize the importance of endoscopy units in district hospitals located far from central hospitals.

Endometrial polyp (EP) is a condition that is often encountered in obstetrics and gynecology clinic practices. In our study, we aimed to reveal the relationship between prolidase enzyme activity (PEA) and Oxidative Stress (OS) in patients with endometrial polyps. Thirty-five patients who were histopathologically diagnosed with EP and 35 patients with abnormal uterine bleeding (AUB) without pathology as a result of endometrial sampling were included in the control group. Serum TOS, OSI, tissue PEA, and endometrial thickness values were found to be statistically significantly higher in the EP group compared to the control group. We believe that our study, when supported by studies with larger patient groups, may be a useful marker for a more detailed understanding of the pathogenesis and clinical follow-up of patients.

Angelman syndrome (AS; OMIM 105830) is a congenital neurodevelopmental disorder typically caused by maternal chromosome 15q11.2-q13 deletion, Ubiquitin-protein ligase E3A (UBE3A) gene mutations, paternal uniparental disomy (UPD), or imprinting center mutations. The rate of sporadic Angelman syndrome carrying UPD is known to be 2-3%. Paternal UPD has been detected in approximately 2-3% of AS patients. Many reports have suggested that patients with UPD-associated AS cases are heterodisomic. We reported a case of a 4-year-old patient diagnosed with AS. She presented with dysmorphic features, including a wide mouth with protruding tongue, flexion of both fingers, drooling with mental retardation, absence of speech, disrupted sleep, without self-injuring behavior. Although electroencephalogram (EEG) findings are important to diagnosing AS, specific EEG and also magnetic resonance imaging (MRI) findings were not detected in our case. In the diagnostic process, which began with conventional cytogenetics, genetic analysis was completed using the next-generation sequencing method. A Robertsonian-type translocation of two long arms in derivative chromosome 15 was detected, defining the patient's karyotype as 45,XX,der(15;15)(q10;q10)dn. Haplotype analysis confirmed the presence of paternal uniparental disomy, indicating that the case carried a de novo rob(15q;15q) translocation. The literature, suggests that AS cases with UPD may exhibit milder clinical features compared to those with microdeletion. Consequently, AS cases involving UPD of chromosome 15 can sometimes be overlooked. Therefore, the case presented here serves as an example highlighting the need to evaluate individuals with translocations involving der(15;15) identified through conventional cytogenetics for potential UPD.

Blunt trauma due to motor vehicle accident may result in severe cardiac valve injury. The most part of lesions are about aortic and mitral valves. Acute on-set cardiac valve insufficiency may cause severe dyspnea or cardiac failure. Tricuspid valve injury due to blunt trauma is extremely rare and clinical manifestation is silent in majority of all cases. In case of echocardiographic evaluation, patient can be diagnosed easily with cardiac valve injury. Here we introduce a 46 year-old male patient suffering tricupid papillary muscle rupture and its successful surgical repair. Fever and a mass on the valve caused by multitrauma may mimic infective endocarditis.

The alterations of ion channel gene expressions in brain and heart tissues in HHcy have not been previously reported. We investigated the mRNA expression levels in brain and heart tissues of the HHcy mice compared to the control mice to characterize distinct expression of 36 ion channels. C57BL/6 J. mice were divided into two groups of 15 animals each: (1) control group and (2) HHcy group. The HHcy was induced by methionine administiration. The mRNA levels of ion channels were analyzed using qRT-PCR. TUNEL staining and MDA assay were used for verification of the negative side effects of HHcy in heart and brain tissues. RT-PCR revealed the upregulation of Hcn4, Trpc3, Trpm2 and the downregulation of Abbc8, Cacna1b, Cacna1c, Cacna1e, Cacna1h, Hcn1, Kcnc3, Kcnh7, Kcnj8, Trpc4, Trpc5, Trpc6, Trpm3, Trpm4, Trpv4, Trpv6 in brain tissues of the HHcy group compared to the control. The upregulation of ion channel expressions in heart tissues were not detected, but we found only the downregulation of Accn1, Accn2, Accn3, Hcn1, Kcnc4 and Trpv6 ion channels. Apoptozis and MDA level were significantly increased in brain and heart tissues of the HHcy group compared to the control. Brain tissues compared to heart tissues exhibit a very considerable and diverse ion channel gene expression pattern in mice with HHcy than control. Clarifying the roles of ion channels in HHcy could shed light on the development of novel therapeutic strategies and ultimately improve HHcy side effects.

Dural grafts are sometimes necessary for repairing spinal dural defects. The search for an ideal material for duraplasty remains a controversial topic. Twenty-six adult male Wistar-Albino rats, weighing 260-380 g, were used. The rats were divided into three groups: Control (n=10), Fascia (n=6), and Gore-Tex (polytetrafluoroethylene) Surgical Membrane group (n=10). After laminectomy was performed on the rats, a dural defect was created. Then, one of the procedures 'leaving the defect open,' 'duraplasty with fascia,' and 'duraplasty with Gore-Tex surgical membrane' was performed. On the 60th day after surgery, the rats were euthanized, and histological investigations were conducted to examine the granulation tissue and adhesions in the operative area. It was observed that granulation tissue filled the defect area in all three groups. In the fascia group, it was observed that the fascia formed a barrier between the dura mater and neural tissue and the granulation tissue, but it was filled with dense granulation tissue and there was adhesion. It was found that the granulation tissue did not adhere to the Gore-Tex surgical membrane in the Gore-Tex surgical membrane group, and the Gore-Tex surgical membrane created an excellent physical barrier preventing adhesion between the dura mater and neural and the granulation tissues.

Double chamber right ventricle (DCRV) is a congenital disease in which a hypertrophied muscle band divides the right ventricle chamber into two. The early-mid-term follow-up of 6 patients with DCRV and distant genetic syndromes is reported in this paper. A retrospective analysis was performed of 6 DRCV patients with a mean age of 3.9±1.4 years. Concomitant cardiac anomalies were perimembranous ventricular septal defect (n=3), atrial septal defect (n=1), mild aortic regurgitation (n=1), discrete subaortic membrane (n=1). Associated genetic syndromes were Costello (n=1), Seckel (n=1) and Down syndromes (n=4). The mean follow-up period was 4.86±4.6 years. Mean systolic pressure gradient in the right ventricle in the postoperative was 18.5±11.5 mmHg. No mortality occurred and there was no requirement for reintervention. To the best of our knowledge, this is the first report in literature of concomitant DCRV with Costello and Seckel syndromes.

Phenylketonuria (PKU) results from congenital defects of amino acid metabolism. Accumulated phenylalanine crosses the blood-brain barrier and causes permanent brain damage, but the neuro-pathophysiology underlying phenylketonuria is not fully understood. Chemically-induced rat phenylketonuria model of both genders was generated to examine the role of inflammatory response, lipid peroxidation and oxidative stress in the prefrontal cortex. Our results showed that in phenylketonuria there was an increase in lipid peroxidation compared to controls, which was significantly different only in males (p<0.001). In male rat PKU groups, statistically significant differences were also observed in serum tryptophan (p<0.001) and interleukin-1β levels (p=0.014) as compared to male controls. In this study, gender-based changes in neuroinflammation and lipid peroxidation were reported for the first time in a PKU model.

Colchicine prophylaxis is one of the treatment options in management of patients with periodic fever aphthous stomatitis pharyngitis and cervical adenitis (PFAPA) syndrome, but variability exists in response to the treatment. Here we aimed to investigate the efficacy of colchicine prophylaxis and factors associated with a favorable response. Patients diagnosed with PFAPA in whom colchicine was employed before 5 years old age were included. Response to the prophylaxis was assessed by the change of fever intervals and an increase of fever interval >50% after treatment was accepted as favorable response. Complete response was defined as a fever free interval of > 3 months in patients displayed favorable response. Among 41 patients, a favorable response, was observed in 20 (48.8%) patients, and among favorable responders, 8 (19.5%) patients displayed complete response. Of the remaining patients without a favorable response, 9 (22%) demonstrated no response to colchicine prophylaxis. Despite colchicine response was not associated with clinical and laboratory features including MEFV mutations and previous corticosteroid usage, shorter fever intervals were found to be significantly increased the odds of a favorable response to colchicine, which might aid in therapeutic decisions in management of patients with PFAPA.

According to global estimates, there are 2.3 million new cases and 1.8 million fatalities due to lung cancer each year. Despite recent progress in diagnosis and treatment, persistent challenges highlight the urgent need for novel therapeutics and innovative approaches to combat lung cancer effectively. Accordingly, in the present study, we aimed to investigate the anticancer properties of potential inhibitors of HIF-1α, compound 7a and 7b. In the study, HTB-54 and BEAS-2B cell lines were used. MTT cell viability experiments were performed to determine the effect of newly synthesized HIF inhibitors 7a and 7b on cell viability under normoxic and hypoxic conditions. Quantitative expression levels of HIF1A were determined by real-time PCR approach. While the half maximum inhibitory concentration (IC50) of compound 7a in HTB-54 cells was 10.37 µM under normoxic conditions, it was found to be 10.63 µM under hypoxic conditions. The IC50 value of another HIF inhibitor 7b in HTB-54 cells was found to be 8.80 µM under normoxic conditions and 9.54 µM under hypoxic conditions. The expression level of HIF1A was found to be lower in cells exposed to compounds 7a and 7b under hypoxia compared to the control group. Conversely, in normoxia, HIF1A expression level in cells exposed to compound 7a increased 6.5-fold (p<0.0001) compared to the control group, while it was found to increase approximately 9-fold (p<0.0001) when exposed to 7b. Consequently, both compound 7a and 7b holds great promise for future therapeutic interventions to lung cancer.