Tuberous sclerosis: a survey in the canton of Vaud, Switzerland.

Aim Of The Study: Tuberous sclerosis complex (TSC) is a genetic and multisystemic disorder that affects between 1/6'000 and 1/10'000 of newborns. Clinical criteria and/or genetic analysis establish the diagnosis. The mechanistic target of rapamycin (mTOR) inhibitors everolimus or sirolimus reduce the severity of several TSC-related clinical traits.

Clinical Implications of Pan-Immune-inflammatory Values in Patients with Hypertrophic Cardiomyopathy.

Objective: Despite significant advances in understanding hypertrophic cardiomyopathy (HCM) in recent years, there is a need to improve risk stratification for patients at high risk of adverse outcomes. The relationship between inflammation and disease severity in HCM patients is known. Recently, a new inflammation parameter called the pan-immune inflammation value (PIV) has been introduced.

Achieving malaria-free: Egypt's journey to WHO certification and global implications for disease control.

Egypt's recent malaria-free certification by the World Health Organization (WHO) marks a significant achievement in public health, underscoring the effectiveness of sustained national efforts in disease eradication. This milestone, achieved after nearly a century of strategic intervention, highlights the importance of integrated public health programmes and cross-sector collaboration. Egypt's journey involved early initiatives to reduce human-mosquito contact, the establishment of malaria control stations, and comprehensive outbreak management strategies.

Mobile app communication to prevent ER visits post-circumcision: a prospective observational study.

Purpose: To assess the impact of a mobile phone application facilitating real-time visual and verbal communication on reducing emergency-room admissions following circumcision.

Methods: This prospective observational study included circumcision surgeries performed by one surgeon at our clinic between April and June 2024, after obtaining parental consent. Parents were divided into two groups: one received a mobile app phone number, while the other did not.

Psychiatric Sequelae in Adult Open Globe Injury Patients.

Background: The aim of this study was to investigate psychiatric sequelae in open globe injury patients and to identify the risk factors associated with these sequelae.

Methods: After a complete ophthalmologic examination, Davidson Trauma Scale (DTS), State-Trait Anxiety Inventory (STAI), and Zung Depression Scale (ZDS) scores were administered to all patients. Patients were divided into 5 groups according to final best corrected visual acuity (BCVA): group 1 (no perception of light, NPL), group 2 [perception of light (PL) or hand movements (HM)], group 3 (1/200 to 19/200), group 4 (20/200 to 20/50), and group 5 (20/40 or above).

Clinicopathologic Characteristics of Breast Cancer Patients Who Had a Pathologic Complete Response after Neoadjuvant Treatment.

Aim: Breast cancer is the most common cancer in women and is a leading cause of cancer-related mortality. The role of neoadjuvant therapy (NAT) in conjunction with surgical intervention is becoming increasingly prominent in the field of oncology. NAT enhance the probability of breast-conserving surgery in cases of locally advanced breast cancer and in patients with metastatic or inoperable disease.

An Analysis of Operated Mediastinal Cysts and Masses.

Aim: This study had two aims: to analyze surgical patients with mediastinal cysts and masses according to clinical, histopathological, and surgical types; and compare the impact of the coronavirus disease 2019 (COVID-19) pandemic on these cases.

Methods: A retrospective analysis was conducted on 132 patients who had undergone surgical intervention for mediastinal cysts and masses. Demographic, clinical, and histopathologic data were recorded.

Acceptance of COVID-19 vaccine and its related determinants in Nigeria: An online survey.

Background: Vaccine hesitancy is a major challenge in the fight against the coronavirus disease 2019 (COVID-19) pandemic. Identifying the sociodemographic factors associated with vaccine acceptance among Nigerians is crucial for improving vaccine uptake.

Aim: To assess the acceptance rate of COVID-19 vaccine and its related determinants among Nigerians.

Reality of Zuckerkandl tubercle and relationship with other anatomical variations.

Aim: The tubercle of Zuckerkandl (TZ) is considered to be the fusion point of the ultimabranchial body and the median thyroid body. We aimed to evaluate the frequency of TZ and its relationship with other anatomical variations and recurrent laryngeal nerve (RLN) paralysis.

Material And Methods: Data regarding the thyroid lobe and RLN of patients with thyroidectomy between June 2016 and December 2019 were retrospectively evaluated.

Evaluation of angiotensin converting enzyme insertion/deletion, alpha adducin (ADD1) G460W, and IL-10 gene polymorphisms, and determination of prognostic effects in idiopathic sudden sensorineural hearing loss.

Objective: The aim of this study was to examine angiotensin converting enzyme (ACE) insertion/deletion, alpha adducin, and interleukin-10 (IL-10) gene polymorphisms (GPs) in terms of both idiopathic sudden sensorineural hearing loss (ISSNHL) risk and their potential prognostic effects.

Methods: The study group consisted of 70 patients and the control group consisted of 50 patients. Venous blood samples were analyzed for relevant GPs via kompetitive allele-specific polymerase chain reaction.

A new scoring system to predict febrile urinary tract infection after retrograde intrarenal surgery.

The current study aimed to determine the risk factors and define a new scoring system for predicting febrile urinary tract infection (F-UTI) following retrograde intrarenal surgery (RIRS) by using machine learning methods. We retrospectively analyzed the medical records of patients who underwent RIRS and 511 patients were included in the study. The patients were divided into two groups: Group 1 consisted of 34 patients who developed postoperative F-UTI, and Group 2 consisted of 477 patients who did not.

Effect of the modified NUTRIC score in predicting the prognosis of patients admitted to intensive care units.

Background: Nutritional deficiency is common in critically ill hospitalized patients. This condition may be aggravated by increased dietary requirements and deficiencies in nutrient absorption. This study aimed to evaluate the associations between the modified Nutritional Risk in Critically ill (mNUTRIC) score and mortality and morbidity in patients with sepsis.

Clinical Characteristics and Genotype-Phenotype Correlation in the Patients with the Diagnosis of Resistance to Thyroid Hormone Beta.

Objective: Resistance to thyroid hormone beta (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The study aimed to evaluate the clinical, laboratory features and genotype-phenotype relationship of Turkish patients with RTHβ.

Methods: Patients who underwent a THRB gene analysis between September 2019 and September 2023 were retrospectively reviewed.

Comparison of melanocortin-4 reptor and α-melanoside stimulated hormone levels in healthy female volunteers and female patients with and without sexual functional disorders related to the use of selective serotonin reaptake inhibitors.

Background: Sexual dysfunction (SD) due to Selective Serotonin Reuptake Inhibitors (SSRI) use is a common condition encountered by psychiatrists and its etiology has not been fully elucidated.

Aim: To determine the relationship between alpha Melanocyte Stimulating Hormone (α-MSH) and Melanocortin-4 receptor (MCR4) levels and sexual function levels of patients with and without SSRI related SD and control group and to examine whether α-MSH and MCR4 play a role in the etiology of SSRI related SD.

Methods: A total of 92 patients and 49 healthy volunteers who applied to psychiatry outpatient clinic were included in the study.

Factors Affecting Non-sentinel Lymph Node Metastasis in Early-Stage Breast Cancer.

Objective Breast cancer most commonly metastasizes to axillary lymph nodes via lymphatic drainage. Today, axillary lymph node surgery is at least as important as primary breast surgery. In today's breast surgery, supported by chemotherapy and radiotherapy, current approaches are taken to avoid axillary dissection in appropriate patient groups.

Predictive value of the Naples prognostic score for no-reflow phenomenon after saphenous vein graft stenting.

Background: No-reflow is a critical adverse event associated with percutaneous coronary intervention (PCI), particularly during saphenous vein graft (SVG) procedures. The Naples Prognostic Score (NPS) reflects inflammatory status, but its relationship with no-reflow remains unclear. Therefore, we aimed to evaluate the relationship between NPS and no-reflow occurrence following SVG PCI.

Long-term Impact of Continuous Glucose Monitoring Assistance on Glycemic Control in Children and Adolescents with Type 1 Diabetes Following the 2023 Kahramanmaraş Earthquake.

Objective: This study aimed to evaluate the impact of continuous glucose monitoring (CGM) assistance on glycemic control in children with type 1 diabetes (T1D) in earthquake-affected regions, comparing those who benefited from CGM with those who did not. Additionally, the study assessed changes in CGM metrics over nine months of CGM use.

Methods: A multicenter, cross-sectional study was conducted across 11 centers in Türkiye.

Could MOTS-C Levels in Children with Type 1 Diabetes Mellitus Be an İndicator for Early Diabetic Kidney Disease?

Objective: The aim of our study was to compare serum MOTS-c levels in children with Type 1 diabetes mellitus (T1DM) to those of healthy children. We also aimed to examine whether serum MOTS-c levels could be used as an early indicator of DKD by correlating with changes in GFR and microalbuminuria.

Methods: We recruited 82 patients who were being treated for insulin-dependent diabetes at the outpatient pediatric endocrinology clinic.

Apnea-hypopnea duration may be a better choice rather than apnea-hypopnea index for forecasting complications in OSAS.

Objective: Mean apnea-hypopnea duration (AHD) is the mean duration of apnea-hypopneas experienced during sleep and was found as an indicator of blood oxygenation. The aim of this study was to compare and define the differences in clinical, demographic and polysomnographic characteristics of obstructive sleep apnea (OSA) patients in long and short AHD groups and investigate the relationship between apnea-hypopnea index (AHI), oxygen desaturation index (ODI), and sleepiness.

Methods: The cross-sectional analysis included 511 OSA patients who were >18 years and followed up between June 2019 and December 2019 in the Sleep Center of university hospital.

Evaluating single-dose methotrexate alone versus methotrexate with letrozole for treating ectopic pregnancy: a comparative study.

Purpose: Ectopic pregnancy (EP) constitutes 1-2% of all pregnancies. Methotrexate (MTX) is commonly used in treating EP, but it has some limitations and potential side effects. Clinical studies have shown that letrozole, an aromatase inhibitor, may potentially be used in conjunction with MTX therapy.

Are Cases of Nonvisualized Appendix on Ultrasound Not Actually Appendicitis? Single-Center Results.

Background: Ultrasonography (USG), which is used as the first step in the diagnosis of acute appendicitis (AA), sometimes cannot visualize the appendix. The aim of this study was to retrospectively analyze the clinical, imaging, and pathology results of these cases and to provide information to clinicians about the next step to be taken.

Methods: The study was performed retrospectively between January 1, 2021 and December 31, 2021.

Efficacy of Ruxolitinib in the management of chronic GVHD.

Objectives: Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a potentially curative treatment for hematological diseases, with success rates improving due to advancements in conditioning regimens and new anti-graft versus host disease (GVHD) drugs. Ruxolitinib, an oral selective Janus kinase (JAK) 1 and 2 inhibitor has been used to mitigate the effects of various inflammatory and myeloproliferative syndromes, given the JAK kinase pathway's central role in cytokine signaling during inflammatory and immune processes. In this study we aimed to assess ruxolitinib's efficacy in patients with chronic GVHD (cGVHD).

Evaluation of the lacrimal punctum parameters in Turkish population with anterior segment optic coherence tomography.

Purpose: To determine the anatomical parameters of puncta in Turkish population without any complaint of epiphora, using anterior segment optic coherence tomography (AS-OCT).

Materials And Methods: The healthy participants between 26 and 83 years old who applied to our outpatient clinic from May 2022 to June 2022 for spectacle prescription or the accompanying person of the patients were included in the study. All participants underwent AS-OCT (Revo 60, OPTOPOL Technology, Zawiercie, Poland).

The effects of microsurgical varicocelectomy performed for infertility on premature ejaculation.

Purpose: To investigate the effects of varicocelectomy on premature ejaculation (PE) in patients with varicocele and infertility.

Methods: A total of 82 sexually active patients aged 18 years or over who had undergone microscopic subinguinal varicocelectomy with a clinical diagnosis of varicocele in 14 urology clinics between October 2021 and March 2023 with primary infertility were evaluated prospectively Patients were evaluated using the Turkish validated form of the 'Premature Ejaculation Diagnostic Tool' (PEDT) scale. A PEDT score of 11 or above was taken to indicate the presence of PE.