Drayer Syndrome due to Chromosome 15q26.3 Deletion: Response to Growth Hormone Treatment.

Chromosome 15q26 deletion is a rare condition that causes short stature and is associated with intrauterine growth restriction (IUGR), failure to thrive, congenital heart disease and many congenital malformations. The insulin growth factor receptor (IGF-1R) on chromosome 15 has many important roles, especially in growth regulation. Our case is an 18-month-old small for gestational age girl who presented with severe short stature, microcephaly and minor dysmorphic features.

Can fecal calprotectin be used as a biomarker of non-alcoholic fatty liver disease in obese adolescents?

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) is increasing with obesity, and it is believed that the ongoing low-grade inflammation in obesity and alterations in the enterohepatic axis contributing this process. This study aimed to determine the role of fecal calprotectin (FC) as inflammatory biomarker in obesity and NAFLD.

Methods: Between November 2022-August 2023, 31 obese and 10 healthy adolescents aged between 10 and 18 years enrolled in this prospective controlled study.

Psychosocial Development, Sexuality and Quality of Life in Congenital Adrenal Hyperplasia.

Exposure of the developing brain to androgens during fetal life is known to affect sexual development, including postnatal sex and sexual orientation. However, these relationships are both multifactorial and unpredictable. It is generally assumed that congenital adrenal hyperplasia (CAH) has greater effects in women than in men due to non-physiological adrenal androgen excess.

Comprehensive Insights Into Pediatric Craniopharyngioma: Endocrine and Metabolic Profiles, Treatment Challenges, and Long-term Outcomes from a Multicenter Study.

Objective: Craniopharyngiomas (CPG) have complex treatment challenges due to their proximity to vital structures, surgical and radiotherapeutic complexities, and the tendency for recurrence. The aim of this study was to identify the prevalence of endocrine and metabolic comorbidities observed during initial diagnosis and long-term follow-up in a nationwide cohort of pediatric CPG patients. A further aim was to highlight the difficulties associated with CPG management.

A Rare Presentation of Homozygous Pathogenic Variant in Gene with Salt-Wasting Crisis in a Neonate.

Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease resulting from isolated glucocorticoid deficiency or unresponsiveness to adrenocorticotropic hormone. Patients with FGD usually present in infancy or early childhood with hyperpigmentation, recurrent infections, and hypoglycemia. The salt-wasting crisis is rare.

Surgical management of Stapfer Type 2 ERCP perforations.

Background: While numerous studies have proposed algorithms for the management of Stapfer Type 2 ERCP perforations, there is limited research on surgical treatment options specifically for this patient group. Our aim is not to propose a new algorithm for these patients but to describe our surgical approach and contribute to the literature with our surgical procedure applied in Stapfer Type 2 ERCP perforation cases.

Methods: Between 2016 and 2023, a total of 12 patients with Stapfer Type 2 ERCP perforations underwent surgery at our hospital.

The effects of stocking density on growth, morphological development, behavior, and welfare parameters in pheasants (Phasianus colchicus).

In pheasants, which are generally raised in large flocks, stocking density is important for their growth and development, normal behavior and welfare. But there is still a lack of information on the optimum stocking density for game birds. This research was conducted on a total of 200 pheasants to examine the effects of low (5 pheasant/m) and high (10 pheasant/m) stocking density rearing practices on body weight, morphological development, behavioral characteristics and welfare parameters such as foot-pad dermatitis and plumage quality.

The effect of well-known burn-related features on machine learning algorithms in burn patients' mortality prediction.

Background: Burns is one of the most common traumas worldwide. Severely injured burn patients have an increased risk for mortality and morbidity. This study aimed to evaluate well-known risk factors for burn mortality and comparison of six machine learn-ing (ML) Algorithms' predictive performances.

Effect of microfluidic channel integration onto gold microelectrode on its redox electrochemistry.

Microfluidic systems have attracted significant interest in recent years as they are extensively employed in lab-on-chip and organ-on-chip research. Their combination with electrochemical platforms offers many advantages, promising a high potential for sensing applications, still the microfluidic-channel integration onto electrodes might induce challenges related to changes in signal-to-noise ratios and mass transport conditions. In this study, we investigated the effect of microfluidic channel integration in redox behavior of thermally deposited gold thin film microelectrodes by voltammetric (CV and SWV) electrochemical measurements.

pH-Activated Dissolvable Polymeric Coatings to Reduce Biofouling on Electrochemical Sensors.

Implantable electrochemical sensors that enable the real-time detection of significant biomarkers offer huge potential for the enhancement and personalisation of therapies; however, biofouling is a key challenge encountered by any implantable system. This is particularly an issue immediately after implantation, when the foreign body response and associated biofouling processes are at their most active in passivating a foreign object. Here, we present the development of a sensor protection and activation strategy against biofouling, based on coatings consisting of a pH-triggered, dissolvable polymer, that covered a functionalised electrode surface.

Comparative analyses of surrogates of metabolic syndrome in children and adolescents with metabolically healthy obesity vs. metabolically unhealthy obesity according to Damanhoury's criteria.

Objectives: Metabolically healthy obesity (MHO) has been reported with varying frequencies in children. The reasons of metabolically healthy phenotype in some obese subjects are unclear. Our aim was to identify the frequency of MHO in obese subjects, to assess the potential associations of demographic characteristics, serum uric acid, alanine transaminase (ALT), pediatric nonalcoholic fatty liver disease fibsosis score probability (PNFS p) with MHO status and to evaluate the differences between MHO and metabolically unhealthy obesity (MUO) with regard to metabolic syndrome surrogates.

The use of Bakri balloon to reduce the anastomosis tension in hepaticojejunostomy.

One of the factors that impair anastomosis healing in patients undergoing hepaticojejunostomy is tension of the anastomosis. There may be tension, especially in cases with a short mesojejunum. In cases where the jejunum cannot be brought higher, positioning the liver a little lower may be a solution.

Prolonged Bleeding After Dental Extraction Due to Decreased Serum Level of Von Willebrand Factor Caused by Untreated Profound Hypothyroidism.

Background: Delayed diagnosis of hypothyroidism may result in atypical presentations. Here, we report a case with decreased serum level and activity of von Willebrand factor due to untreated profound hypothyroidism.

Observation: A 9-year-old girl, presented with prolonged gingival bleeding after dental extraction.

The association of metabolic syndrome status with sensorineural hearing loss in pediatric obese patients.

Objectives: The prevalences of pediatric obesity and its associated comorbidities such as metabolic syndrome (metS) are rising. The aim of this study was to evaluate the association of metS status with sensorineural hearing loss in pediatric obese patients.

Methods: A two-center observationalprospective study was designed.

RAC1B function is essential for breast cancer stem cell maintenance and chemoresistance of breast tumor cells.

Breast cancer stem cells (BCSC) are presumed to be responsible for treatment resistance, tumor recurrence and metastasis of breast tumors. However, development of BCSC-targeting therapies has been held back by their heterogeneity and the lack of BCSC-selective molecular targets. Here, we demonstrate that RAC1B, the only known alternatively spliced variant of the small GTPase RAC1, is expressed in a subset of BCSCs in vivo and its function is required for the maintenance of BCSCs and their chemoresistance to doxorubicin.

Mortality prediction models for severe burn patients: Which one is the best?

Background: For prediction of mortality and clinical course, various scoring systems had been developed. We choose four well known burn specific scoring systems and a general scoring system that using in Intensive Care Units. The primary outcome of this study was evaluate the predictive performances of this models and define the optimal one for our patient population.

Serum spexin levels are not associated with size at birth but are associated with metabolic syndrome components in prepubertal children born at term.

Background: Babies born small for gestational age (SGA) are at risk of obesity and metabolic syndrome (MetS). Spexin (SPX) is a novel peptide implicated in food intake and obesity. Spexin levels are lower in obese subjects.

Assessment of Serum Spexin Levels in Obese Adolescents with Metabolic Syndrome Antecedents: Preliminary Results.

Objective: Spexin (SPX) is a novel peptide implicated in food intake and satiety. SPX levels are reduced in obese patients.

Aim: This study aimed to compare serum SPX levels in obese adolescents versus healthy controls and to assess the associations of metabolic syndrome (metS) antecedents with serum SPX levels.

In vivo application of an implantable tri-anchored methylene blue-based electrochemical pH sensor.

The development of robust implantable sensors is important in the successful advancement of personalised medicine as they have the potential to provide in situ real-time data regarding the status of health and disease and the effectiveness of treatment. Tissue pH is a key physiological parameter and herein, we report the design, fabrication, functionalisation, encapsulation and protection of a miniaturised, self-contained, electrochemical pH sensor system and characterisation of sensor performance. Notably for the first time in this environment the pH sensor was based on a methylene blue redox reporter which showed remarkable robustness, accuracy and sensitivity.