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In this study, a fusion-fission hybrid reactor system was designed by using 9Cr2WVTa Ferritic steel structural material and the molten salt-heavy metal mixtures 99–95% Li20Sn80 + 1-5% RG-Pu, 99–95% Li20Sn80 + 1-5% RG-PuF4, and 99–95% Li20Sn80 + 1-5% RG-PuO2, as fluids. The fluids were used in the liquid first wall, blanket and shield zones of a fusion–fission hybrid reactor system. Beryllium (Be) zone with the width of 3 cm was used for the neutron multiplication between the liquid first wall and blanket. This study analyzes the nuclear parameters such as tritium breeding ratio (TBR), energy multiplication factor (M), heat deposition rate, fission reaction rate in liquid first wall, blanket and shield zones and investigates effects of reactor grade Pu content in the designed system on these nuclear parameters. Three-dimensional analyses were performed by using the Monte Carlo code MCNPX-2.7.0 and nuclear data library ENDF/B-VII.0.

HbA 1c plays an important role in the diagnosis and treatment of diabetes and is a valuable biomarker for evaluating glycemic control and predicting the risk of vascular complications. The study aimed to determine the biological variation (BV) for HbA 1c and thereby contribute to analytical performance specifications, reference change values, and index of individuality. Fasting venous whole blood samples were collected from 38 presumably healthy subjects (20 females, 18 males) once a week for ten weeks, and analyzed in duplicate using the Roche Cobas c501 analyzer. BioVar, an online R-based biological variation analysis tool, was used for the statistical analysis. BV values were obtained by analysis of variance (ANOVA) after outlier detection, normality tests, steady-state, and homogeneity checks. The within-subject biological variation for HbA 1c was 2.9%, and the between-subject biological variation was 7.9%. The index of the individuality of HbA 1c was 0.37. Derived desirable analytical goals for imprecision, bias, total allowable error, and maximum expanded allowable measurement uncertainty were 1.4%, 1.8%, 4.2%, and 2.9% respectively. The reference change value is more appropriate for interpreting HbA1c results than a population-based reference interval.

Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder linked to increased cancer risk due to specific genetic variants in the STK11 gene. This study aimed to assess disease manifestations, genetic profiles, and genotype-phenotype correlations in PJS patients. Twenty patients from 14 families with PJS who were followed up at our clinic between 2011 and 2021 were included. Genetic susceptibility to hereditary cancers was assess-ed using targeted next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) of the STK11 gene. Clinical data were also collected and analyzed in conjunction with the genetic findings. Initial symptoms appeared around 18.9 years, predominantly abdominal pain and intussusception. Mucocutaneous lesions were found in 85%, and hamartomatous polyps in 90%. Dysplastic polyps were found in 4 patients, with 3 cases of malignancy. Nextgeneration sequencing identified 11 pathogenic and 3 likely pathogenic mutations, including 3 novel STK11 variants (LRG_319: c.598- 8_601del, LRG_319: c.708_718del, and LRG_319: c.146_147del). Next-generation sequencing diagnostic rate was 78.5% (11/14), and the overall diagnostic rate with NGS and MLPA studies was 85.7% (12/14). Patients without STK11 mutations had later symptom onset and potentially lower cancer risk. Truncated mutations are associated with earlier symptoms and elevated cancer risk. This is the first PJS case series in Turkey using the NGS and MLPA methods. It reports 3 novel mutations and emphasizes the genotype-phenotype relationship of PJS. With further studies, the genotype-phenotype relationship of STK11 variants will be better understood.

Background: Gastrointestinal system disorders are known to be prevalent among children with autism spectrum disorder (ASD). Some ASD-associated comorbidities are abdominal pain, constipation, diarrhea, gastroesophageal reflux, sleep disturbances, epilepsy, and psychiatric problems. Nonetheless, there is still limited information about the presence of functional GI disorders (FGIDs) among children with ASD, especially in Türkiye. Using the Rome criteria, we aimed to investigate FGIDs in children with ASD., Methods: The sample of the study consisted of 68 children aged 4-10 years, diagnosed with ASD according to the DSM-5 diagnostic criteria and had scores greater than 30 on the Childhood Autism Rating Scale (CARS-2) and an age-sex matched control group (n=78). The Rome III criteria were used to evaluate FGIDs., Results: The frequency of FGIDs in the ASD group was higher (76.5%) compared to the control group (p < 0.001). Compared to the control group, abdominal migraine frequency increased 10 times (p=0.012), functional constipation 7 times (p < 0.001), and fecal incontinence 6 times (p < 0.001) in the ASD group. Stool retention was not present in most children in the ASD group who were found to have fecal incontinence., Conclusion: In this study, the most common FGIDs in the ASD group were abdominal migraine, functional constipation, and non-retentive fecal incontinence. The finding that most children with ASD who had fecal incontinence did not show stool retention implicated social, psychological, and behavioral factors as the causes of incontinence. Raising awareness of healthcare professionals about the frequency of FGIDs in children with ASD will improve many areas in the daily lives of these children.

Competing Interests: The authors declare that they have no conflict of interest.

Objectives: Large cell calcifying Sertoli cell tumours (LCCSCTs) are one of the infrequent causes of prepubertal gynaecomastia. Most of these tumours are in the content of Peutz-Jeghers syndrome (PJS) or other familial syndromes (Carney complex)., Case Presentation: Here, we report a long-term follow-up of an 8.5-year-old prepubertal boy with a diagnosis of PJS, who presented with bilateral gynaecomastia, advanced bone age and accelerated growth velocity, and were found to have bilateral multifocal testicular microcalcifications. As the findings were compatible with LCCSCT, anastrozole was initiated. Gynaecomastia completely regressed and growth velocity and pubertal development were appropriate for age during follow-up. Testicular lesions slightly increased in size. After four years of medication, anastrozole was discontinued but was restarted due to the recurrence of gynaecomastia after six months., Conclusions: Testicular tumour should be investigated in a patient with PJS who presents with prepubertal gynaecomastia. When findings are consistent with LCCSCT, aromatase inhibitors may be preferred in the treatment., (© 2022 Walter de Gruyter GmbH, Berlin/Boston.)

Background/aim: Peritoneal dialysis (PD) is generally considered the practical dialysis modality for neonates in the treatment of acute kidney injury (AKI) and metabolic disturbances. The aim of this study was to evaluate the indications, complications, and outcomes of PD between January 2011 and December 2016. Materials and methods: This study included all 56 neonates that underwent PD over six years in our neonatal intensive care unit (NICU). A retrospective chart review was performed for all patients in our institution. Results: The incidence of PD was 1.32% (56/4230 patients) during this period. Mean birth weight of the patients was 2267.77 ± 1060.63 (540–5050) g. Thirty-four (60.7%) patients were premature. Fourteen patients (25%) were in the postoperative period of cardiac surgery due to congenital cardiac defects, fourteen patients (25%) were diagnosed with metabolic diseases, one patient had hypoxic ischemic encephalopathy, and another patient had severe pulmonary hypertension. Conclusion: In the acute setting of a neonatal intensive care unit, PD performed in a neonate provides a technically simple method of steady fluid, solute removal, and correction of electrolyte abnormalities. A trocar catheter appears safe even in premature babies, and closed three-way stopcock system seems to be reliable at the bedside in NICUs.

Background: Penile fracture is a surgical emergency defined as rupture of the tunica albuginea. Although most cases can be diagnosed with clinical evaluation, it has been stated in the literature that diagnosis in as many as 15% of cases can be challenging. In uncertain cases, imaging can help determine diagnosis., Methods: Present study included 20 cases where diagnosis could not be made with certainty and magnetic resonance imaging (MRI) was performed. MR images were examined for tunical rupture and accompanying pathologies. When rupture was observed, localization and length of rupture were noted. All patients underwent degloving surgery. All imaging findings were compared to surgical findings., Results: MRI revealed 19 tunical ruptures. In 1 case, hematoma was seen with no sign of penile fracture. No urethral injuries were found. All MRI findings were confirmed during surgery., Conclusion: Performing MRI in clinically equivocal cases can provide crucial data to make precise diagnosis and improve patient management.