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Scleroderma (SSc) is an autoimmune disease of unknown etiology. The disease is 3–8 times more frequent in women than in men. The role of X chromosome inactivation (XCI) in the predisposition of women to autoimmunity has been questioned. Until now this has not been illustrated experimentally. This study was undertaken to test the hypothesis that disturbances in XCI mosaicism may be involved in the pathogenesis of the disease in female patients with SSc. Seventy female SSc patients and 160 female controls were analyzed for the androgen receptor locus by the Hpa II/polymerase chain reaction assay to assess XCI patterns in DNA extracted from peripheral blood cells. Furthermore, skin biopsy samples were obtained from 5 patients whose blood revealed an extremely skewed pattern of XCI, and the analysis repeated. Since microchimerism in SSc was reported, Y chromosome sequences were investigated in all samples.Skewed XCI was observed in DNA from peripheral blood cells in 35 of 55 informative patients (64%), as compared with 10 of 124 informative controls (8%) (P < 0.0001). Extreme skewing was present in 27 of the patient group (49%), as compared with only 3 of the controls (2.4%) (P < 0.0001). However, XCI was random in all skin biopsy samples. The potential contribution of microchimerism to the random XCI pattern is highly unlikely based on the medical histories of the patients.Skewed XCI mosaicism may play a significant role in the pathogenesis of SSc. [ABSTRACT FROM AUTHOR]

Objective: To find out the significance of the histopathologic assessment of tonsillectomy materials in an attempt to understand the cost-effectiveness of this procedure. Patients and Methods: Hematoxylin- and eosin-stained sections of 1,820 tonsillectomy samples were re-evaluated, and clinical charts of the patients were made. Results: There was Actinomyces in 122 (6.7%), cryptic abscess in 144 (7.9%), cyst formation in 146 (8.0%) and granuloma in 11 (0.6%). Malignancy was found in 9 (0.5%) of 1,820 patients. In these patients with histopathologically confirmed malignancy, tonsillectomy had been performed with a presumptive diagnosis of malignant disease. Conclusions: Routine histopathologic examination of tonsillectomy material is not necessary unless there is a strong suspicion of malignancy on clinical evaluation. Thus, the cost of hospital expenses can be decreased to some extent. This will also eliminate the waste of time due to histopathologic assessment unless residency training is the subject of discussion. The medical-legal limitations should also be taken into consideration while making decisions about the necessity of histopathologic examination of these specimens.Copyright © 2005 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The loss of cerebellar Purkinje cells is a hallmark of neurodegenerative movement disorders, but the mechanisms remain enigmatic. We show that endocytic adaptor protein complex 2 (AP-2) is crucial for Purkinje cell survival. Using mouse genetics, viral tracing, calcium imaging, and kinematic analysis, we demonstrate that loss of the AP-2 μ subunit in Purkinje cells leads to early-onset ataxia and progressive degeneration. Synaptic dysfunction, marked by an overrepresentation of parallel fibers (PFs) over climbing fibers (CFs), precedes Purkinje cell loss. Mechanistically, AP-2 interacts with the PF-enriched protein GRID2IP, and its loss triggers GRID2IP degradation and glutamate δ2 receptor (GLURδ2) accumulation, leading to an excess of PFs while CFs are reduced. The overrepresentation of PFs increases Purkinje cell network activity, which is mitigated by enhancing glutamate clearance with ceftriaxone. These findings highlight the role of AP-2 in regulating GRID2IP levels in Purkinje cells to maintain PF-CF synaptic balance and prevent motor dysfunction., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2025 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Facial aging involves multifactorial changes affecting the bone, superficial musculoaponeurotic system, fat pads, and skin, primarily manifesting as the downward displacement of these structures. The transtemporal endoscopic deep plane face lift (TEDPF) suggests a vertical lifting method, targeting these issues without a preauricular incision., Methods: A retrospective study was conducted on 140 patients (133 women and 7 men) 33-67 years of age who underwent TEDPF from February 2020 to March 2023. Of these, 42 patients also received a neck lift. The surgical technique involved endoscopic dissection and vertical lifting and fixation of the superficial musculoaponeurotic system layer using specific suture points. An objective photographic analysis was performed by measuring preoperative and postoperative lower eyelid lengths to assess aesthetic outcomes., Results: The follow-up period ranged from 18 to 36 months. Temporary frontal neuropraxia occurred in 5 patients, resolving within 3 weeks to 3 months. Revision surgery was required for 6 patients due to excess preauricular skin or temporal skin accumulation malar dimpling. Significant improvements were observed, especially in periorbital, nasolabial, and jowl areas, enhancing eye shape and reducing the need for lower blepharoplasty. Objective photographic analysis showed a significant reduction in lower eyelid length postoperatively, with a mean percentage reduction of 22.45% in eyelid length ( P < 0.05)., Conclusions: TEDPF achieves effective vertical lifting for facial rejuvenation, minimizes scarring, and reduces surgery time. It provides notable aesthetic improvements with manageable complications, suitable for patients prone to keloids or seeking less invasive options., Competing Interests: The authors have no financial interest to declare in relation to the content of this article., (Copyright © 2025 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of The American Society of Plastic Surgeons.)

Dysfunctions in autophagy, a cellular mechanism for breaking down components within lysosomes, often lead to neurodegeneration. The specific mechanisms underlying neuronal vulnerability due to autophagy dysfunction remain elusive. Here we show that autophagy contributes to cerebellar Purkinje cell (PC) survival by safeguarding their glycolytic activity. Outside the conventional housekeeping role, autophagy is also involved in the ATG5-mediated regulation of glucose transporter 2 (GLUT2) levels during cerebellar maturation. Autophagy-deficient PCs exhibit GLUT2 accumulation on the plasma membrane, along with increased glucose uptake and alterations in glycolysis. We identify lysophosphatidic acid and serine as glycolytic intermediates that trigger PC death and demonstrate that the deletion of GLUT2 in ATG5-deficient mice mitigates PC neurodegeneration and rescues their ataxic gait. Taken together, this work reveals a mechanism for regulating GLUT2 levels in neurons and provides insights into the neuroprotective role of autophagy by controlling glucose homeostasis in the brain., Competing Interests: Competing interests: A.D. reports the following competing interests: Research support: Siemens Healthineers, Life Molecular Imaging, GE Healthcare, AVID Radiopharmaceuticals, Sofie, Eisai, Novartis/AAA, Ariceum Therapeutics; speaker honorary/advisory boards: Siemens Healthineers, Sanofi, GE Healthcare, Biogen, Novo Nordisk, Invicro, Novartis/AAA, Bayer Vital; stock: Siemens Healthineers, Lantheus Holding, Structured Therapeutics, ImmunoGen; patents: patent for 18F-JK-PSMA- 7 (PSMA PET imaging tracer; patent no. EP3765097A1; date of patent: 20 January 2021). The other authors declare no competing interests., (© 2025. The Author(s).)

Background: Women are disproportionately affected by disasters due to their vulnerability and limited access to resources. The purpose of this study is to investigate the health concerns and experiences of women who relocated to a different city following the February 2023 earthquake in Turkey., Methods: Data was collected using a constructivist qualitative research design. Between May 1 and July 1 2023, interviews were conducted with female participants who relocated to a different city after the February 2023 earthquake in Turkey. The collected data underwent qualitative content analysis, adhering to the Standards for Qualitative Research Reporting (SRQR). The study utilized Graneheim and Lundman's content analysis method to analyze the interview data. Interviews were transcribed. The transcripts were analyzed in the qualitative research software package ATLAS.ti 9., Results: In the study, 32 women aged 19-43 years were interviewed. The results revealed four distinct categories and 10 sub-categories derived from the interviewees' narratives. These four categories were physiological needs, safety concerns, need for love and belonging, and self-realization., Conclusions: It was concluded that individuals who experience disasters face multiple hardships, especially related to these categories. Therefore, it is crucial to focus on the issues and requirements of survivors, particularly women belonging to vulnerable groups. One should not overlook the fundamental needs of women in service delivery., Competing Interests: Declarations. Ethics approval and consent to participate: The approval of Sakarya University Non-Interventional Ethics Committee and institutional permission from Sakarya University Faculty of Medicine were obtained before the study (No: E-71522473-050.01.04-241664-109/27.03.2023). We followed the Declaration of Helsinki – Version 2008 that aims Ethical Principles for Medical Research Involving Human Subjects. In addition, before the final selection, participants were given full explanations about the aims of the study, the method of data collection, confidentiality of information, and the right to withdraw from the study at any stage. Furthermore, informed consent was obtained from all participants to participate in the study and to record the interviews. Finally, to ensure anonymity, a unique code was assigned to the woman participating in the study (meaning participant 1; P1, P2, P3, etc.). For the sake of confidentiality, the file containing the audio interviews was kept in a secure location. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests., (© 2025. The Author(s).)

Background: This study aimed to assess the prevalence of erectile dysfunction and identify associated factors among male patients with hypertension., Methods: A cross-sectional descriptive study was conducted. Data were gathered from 223 individuals aged 18 and above, solely diagnosed with hypertension. Information was collected through face-to-face questionnaires, personal identification forms, and the 5-question version of the International Sexual Function Index Scale., Results: Among the participants, 81.6% exhibited erectile dysfunction, with a mean total score of 18.72 ± 3.60 on the 5-question version of the International Index of Erectile Function Questionnaire, indicating a mild level of dysfunction. Older age, smoking, lower educational attainment, and use of beta blockers were associated with higher levels of erectile dysfunction ( p  < 0.05)., Discussion: To mitigate modifiable risk factors influencing erectile dysfunction severity in hypertensive males, promoting healthy lifestyle choices, including diet, exercise, physiotherapy, and psychosocial support, as well as educating patients and their partners, could prove beneficial as non-pharmacological interventions., Competing Interests: The authors declare there are no competing interests., (©2024 Rashidi et al.)

Introduction: Nasal tip stability is crucial for long-lasting results. Usage of the extension graft is one of the most reliable stabilization techniques. With a septum in the midline, the extension graft is fixed end to end. The "jig-saw puzzle technique" reinforces this end-to-end fixation. The specific protrusion on one piece of the puzzle is inserted in a groove on adjacent piece. This settlement provides stabilization between the pieces. Application of this philosophy between the nasal septum and extension graft may provide a long-term fixation., Material Method: Between April 2022 and March 2024, the "jig-saw puzzle technique" was applied in 26 female patients. Trapezoid-shaped protrusion was created at the septum. Similar indentation was created at the extension grafts. The protrusion is then settled in the indentation. The preop, immediate postoperative and one-year postoperative pictures are compared to assess the rotations and projections with Adobe Photoshop Program., Results: All 26 patients were females with mean age 27.5 years (20-32). Satisfactory graft stabilization was obtained without loss of projection and rotation in all patients. Statistically significant difference was found between the preoperative, immediate postoperative and postoperative 1-year projection and rotation assessments of the patients (p = 0.001; p < 0.01). The results were evaluated at a 95% confidence interval and significance was evaluated at p < 0.05 level. These statistical analyses verify that both projection and rotation were preserved with jig-saw puzzle technique., Conclusion: The jigsaw puzzle technique may provide suture-independent, long-term end-to-end fixation opportunity of the septal cartilage and the extension graft., Level of Evidence Iv: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 ., (© 2024. Springer Science+Business Media, LLC, part of Springer Nature and International Society of Aesthetic Plastic Surgery.)

Background: Pediatric Burkitt lymphoma (pBL) is the most common non-Hodgkin lymphoma in children. These patients require prompt diagnosis and initiation of therapy due to rapid tumor growth. The roles of tumor tissue and circulating microRNAs (miRNAs) in the diagnosis or prognostication have not been fully elucidated in pBLs., Methods: Differentially expressed (DE) miRNAs were identified with microRNA sequencing (miRNA-Seq) in tumor tissues and plasma of diagnostic pBLs. The diagnostic potential of total miRNA concentrations and overexpressed miRNAs were evaluated through receiver operating characteristic (ROC) analyses. Log-rank test was employed to evaluate survival differences associated with DE miRNAs. Selected miRNA expressions were cross-validated with quantitative reverse transcription PCR (qRT-PCR)., Results: Total circulating cell-free miRNAs were higher in pBL cases compared to controls. Cancer-associated pathways were enriched among miRNAs differentially expressed in pBL tumor tissues. Several upregulated miRNAs in pBL tumors demonstrated high diagnostic potential. Similarly, ROC analysis of overexpressed plasma miRNAs revealed circulating cell-free or exosomal miRNAs that can distinguish pBLs from control cases. Indeed, integrative analysis of overexpressed circulating exosomal miRNAs showed an enhanced diagnostic potential for certain triple combinations. Kaplan-Meier analyses of DE miRNAs in tumor tissues identified miRNAs predicting overall survival., Conclusions: Differentially expressed miRNAs in tumor tissue and plasma of pBL have the potential to improve diagnosis and prognosis., Impact: Differentially expressed miRNAs in treatment-naive pediatric Burkitt lymphoma cases have diagnostic or prognostic biomarker potential. This is the first study that applied miRNA-Seq on treatment-naive pediatric Burkitt lymphoma cases for identification of differentially expressed miRNAs both in tumor tissue and plasma samples with diagnostic potential. Through systematic analysis of differentially expressed miRNAs, tumor tissue miRNAs associated with the overall survival of pBLs have been discovered. The clinically significant, differentially expressed miRNAs identified in pediatric Burkitt lymphoma cases can potentially improve the current tissue-based or non-invasive clinical practice in terms of diagnosis or prognostication., Competing Interests: Competing interests The authors declare no competing interests. Ethics approval and consent to participate The patient samples used in this study were approved by the institutional review board of the Medical School at Dokuz Eylül University (protocol no: 3837-GOA). Parental consent was obtained for all participating children in the study., (© 2024. The Author(s), under exclusive licence to the International Pediatric Research Foundation, Inc.)

Aim: This study aims to develop the Quality of Life in Pregnancy Scale (PREG-QOL) as a new instrument to evaluate the quality of life during pregnancy and test its psychometric properties., Design: An instrument development study and psychometric testing of the content and construct validity, factor structure and reliability., Methods: The study was conducted in three stages: (1) creating an item pool, (2) preliminary evaluation of items, and (3) refining the scale and evaluating psychometric properties. Instrument development guidelines were used to evaluate content validity, construct validity, internal consistency and stability of the instrument over time. Data to evaluate psychometric properties of the PREG-QOL were collected between April and August 2021., Results: Items were developed using in-depth interviews with pregnant women and extensive literature review. Scale-content validity index was 0.98. Exploratory factor analysis revealed a 26-item instrument with 6 factors, which explained % 56.2 of variance. Confirmatory factor analysis (CFA) showed that factors 3 and 5 should be combined into the factor of physical domain since they included items about the same theme. Fit indices obtained by CFA were at sufficient levels. Parallel test method was employed to evaluate the correlation of the PREG-QOL with the SF-36. The findings indicated that the PREG-QOL had high internal inconsistency and stability over time., Conclusion: The PREG-QOL is a valid and reliable instrument in terms of its psychometric characteristics. The 26-item instrument was composed of the five factors of perception of general satisfaction, emotional domain, physical domain, health support systems and social domain., Impact: Displaying good psychometric properties, the PREG-QOL may be used to evaluate multiple dimensions of the quality of life during pregnancy., (© 2024. The Author(s).)

Objective: The purpose of the present research is to evaluate the salivary levels of leucine-rich alpha-2 glycoprotein (LRG) and C-reactive protein (CRP) in periodontal health and disease (gingivitis and stage III periodontitis) and also to compare the discriminative efficiencies of both biomarkers in periodontal disease., Background: LRG is a new acute-phase protein whose functions are still being investigated. LRG and CRP are both biomarkers that are increased by inflammation. No clinical study has yet investigated the comparison of the level of LRG and CRP in periodontal health, gingivitis and periodontitis in saliva samples., Methods: A total of 60 individuals, including 20 periodontally healthy (control group/group C), 20 with gingivitis (group G), and 20 with Stage III periodontitis (group P), who were systemically healthy and non-smokers, participated in this study. Periodontal charts were used for recording clinical periodontal parameters and saliva LRG and CRP levels were measured by ELISA. Analyzing the area under the curve (AUC) was performed by the receiver-operating characteristics curve., Results: Salivary levels of LRG and CRP were significantly higher in disease groups than in group C (p < .05). Positive statistically significant correlations were observed between both biomarkers and clinical parameters (p < .05). There was also a strong positive correlation between two biomarkers (p < .05). In distinguishing periodontal disease from periodontal health, LRG (AUC = 0.833) and CRP (AUC = 0.826) were found to have similar accuracy (p = .923)., Conclusion: LRG and CRP may be useful and similarly effective biomarkers in the diagnosis of periodontal diseases based on the findings of this study., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Background: Clinical and experimental studies on virtual reality have shown that this easy-to-use and non-invasive method is a safe and effective strategy during normal labor., Aim: This study aims to analyze the effects of virtual reality (VR) interventions on some of the parameters of normal labor., Design: Systematic review and meta-analysis., Method: Higher Education Council National Thesis Center, Scopus, PubMed, Google Scholar, and Science Direct databases were systematically searched for randomized controlled trials that administered VR to the intervention group but not to the control group and were published through January 2022. RevMan software was used to analyze the meta-analysis data. Pain, anxiety, satisfaction, and the duration of the first and second stages of labor were assessed as outcomes of normal labor., Results: Seven randomized controlled trials, with a total of 756 women in total, met the inclusion criteria. Virtual reality interventions significantly reduced pain scores when cervical dilatation was ≤4 cm (MD = -0.43, 95% expansion here (CI [-0.65, -0.21], p < .001) and ≥9 cm (SMD = -1.91, 95% CI [-2.56, -1.26], p < .001). Anxiety scores significantly decreased (SMD = -1.08, 95% CI [-1.75, 0.41], p < .001), and childbirth satisfaction significantly increased (MD = 11.24, 95% CI [2.17, 20.30], p < .001) in the VR intervention groups. Finally, when compared to the control groups, the duration of the first stage of labor (SMD = -0.53, 95% CI [-0.83, -0.22], p < .01) and the second stage of labor (MD = -0.39, 95% CI [-0.76, -0.02], p = .001) were significantly decreased in the VR intervention groups., Conclusions: Virtual reality interventions are effective methods to reduce pain, anxiety, and the duration of the first and second stages of labor and to increase satisfaction with normal labor., Competing Interests: Declaration of Competing Interests The authors declare that they have no competing interests., (Copyright © 2023. Published by Elsevier Inc.)

Background: Intravascular fasciitis (IF) is a benign, reactive, myofibroblastic proliferation that originates from the superficial or deep fascia of small / medium-sized arteries and veins., Case Report: An 8-year-old male patient was admitted to a health center with the complaint of swelling in the inguinal region. Lower extremity venous Doppler ultrasonography showed deep vein thrombosis (DVT) of the femoral vein and anticoagulation with low-molecular weight heparin (LMWH) was initiated. The patient was referred to our center for follow-up. The D-dimer level was detected within normal limits. Doppler ultrasonography was repeated and showed an intraluminal expanding mass lesion with increasing vascularity, without distinct borders and LMWH was discontinued. This lesion at the sapheno-femoral junction was excised surgically and the histopathological examination revealed intravascular fasciitis., Conclusion: Clinicians should be aware that the clinical findings of IF may mimic sarcoma and thrombosis.

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare genetic disease mainly associated with Carney complex (CNC), which is caused by germline mutations of the regulatory subunit type 1A (RIα) of the cAMP-dependent protein kinase (PRKAR1A) gene. We report three cases suffering from CNC with unique features in diagnosis and follow-up. All cases had obesity and a cushingoid appearance and exhibited laboratory characteristics of hypercortisolism. However biochemical and radiological examinations initially suggested Cushing's disease in one case . All of the cases were treated surgically; two of them underwent bilateral adrenalectomy at once, one of them had unilateral adrenalectomy at first but required contralateral adrenalectomy after nine months. Contrary to what is usually known regarding PPNAD, the adrenal glands of two cases (case 2 and 3) had a macronodular morphology. Genetic analyses revealed pathogenic variants in PRKAR1A (case 1: c.440+5 G>A, not reported in the literature; cases 2 and 3: c.349G>T, p.V117F). One case developed Hodgkin lymphoma five year after adrenalectomy, this association was not previously reported with CNC. The findings of these families provide important information for a better understanding of the genetic pathogenesis, diagnosis, and clinical management of CNC. Hodgkin lymphoma may be a component of CNC.

Intrauterine onset syndromic short stature constitutes a group of diseases that pose challenges in differential diagnosis due to their rarity and clinical as well as molecular heterogeneity. The aim of this study was to investigate the presence of (epi)genetic causes in children born small for gestational age (SGA) and manifesting clinically undiagnosed syndromic short stature. The study group comprised twenty-nine cases selected from the syndromic SGA cohort. Various analyses were performed, including chromosomal microarray (CMA), methylation-specific-multiple ligation probe amplification for chromosomes 6,14 and 20, and whole exome sequencing (WES). Pathogenic copy number variants (CNVs) on chromosomes 2q13, 22q11.3, Xp22.33, 17q21.31, 19p13.13 and 4p16.31 causing syndromic growth disturbance were detected in six patients. Maternal uniparental disomy 14 was identified in a patient. WES was performed in the remaining 22 patients, revealing pathogenic variants in nine cases; six were monoallelic (ACAN, ARID2, NIPBL, PIK3R1, SMAD4, BRIP1), two were biallelic (BRCA2, RFWD3) and one was hemizygous (HUWE1). Seven of these were novel. Craniofacial dysmorphism, which is an important clue for the diagnosis of syndromes, was very mild in all patients. This study unveiled, for the first time, that ARID2 mutatios can cause syndromic SGA. In conclusion, a high (55.2%) diagnosis rate was achieved through the utilization of CMA, epigenetic and WES analyzes; 15 rare syndromes were defined, who were born with SGA and had atypical and/or mild dysmorphic findings. This study not only drew attention to the association of some rare syndromes with SGA, but also introduced novel genes and CNVs as potential contributors to syndromic SGA., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

Objectives: Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is the most common periodic fever syndrome during early childhood period with regular febrile attacks of sterile upper airway inflammation. The cessation of attacks following tonsillectomy points to fundamental role of tonsil tissue on etiopathogenesis of disease, which is not clarified satisfactorily. The aim of this study is to explore the immunological basis of PFAPA by evaluating the cellular properties of tonsils, and microbial exposition such as Helicobacter pylori on tonsillectomy materials., Methods: The paraffinized tonsil samples of 26 PFAPA and 29 control patients with obstructive upper airway disorder were compared in terms of immunohistochemical staining features including CD4, CD8, CD123, CD1a, CD20, and H. pylori., Results: The median number of CD8+ cells was 1485 (1218-1287) in PFAPA while it was 1003 (852-1261.5) in control group and the difference was statistically significant (p=0.001). Similarly, CD4+ cell counts were statistically higher in PFAPA group than control (833.5 vs 622). The ratio of CD4/CD8 did not differ between two groups; also, there was no statistically difference in terms of the other immunohistochemical staining results, such as CD20, CD1a, CD123 and H. pylori., Conclusion: This is the largest number of pediatric tonsillar tissue study of PFAPA patients in current literature and we emphasized the triggering effects of CD8+ and CD4+ T-cells on PFAPA tonsils., Key Points: • The cessation of attacks following tonsillectomy points to fundamental role of tonsil tissue on etiopathogenesis of disease, which is not clarified satisfactorily. • In current study, 92.3% of our patients did not experience any attacks following operation similarly with literature. • We observed the increased number of CD4+ and CD8+ T cell counts on PFAPA tonsils compared to control group and emphasized the active role of both CD4+ and CD8+ cells localized on PFAPA tonsils in immune dysregulation. • Some other cell types evaluated in this study such as CD19+ (B cells), CD1a (dendritic cells), and CD123 (IL-3 receptors, for pluripotent stem cells) and H. pylori did not differ in PFAPA patients compared to the control group., (© 2023. The Author(s), under exclusive licence to International League of Associations for Rheumatology (ILAR).)

Introduction: Diagnosing real urinary obstruction and surgical decision making for the operative correction of urinary obstruction, are still problematic in congenital hydronephrosis (CH). Compliance of the renal pelvis is one of the important defense mechanisms of renal parenchyma against urinary obstruction. We observed early loss of function in some cases of CH with low and moderate anteroposterior diameter of the renal pelvis (APDRP)., Objective: To evaluate structural properties of the renal pelvic tissue of patients with CH and the relation of these structural properties with renal function and Anteroposterior diameter of the renal pelvis., Study Design: Ureteropelvic junction (UPJ) excised during UPJ obstruction operations from 2013 to 2019 were evaluated histopathologically. The patients were divided into the two groups according to initial renal function, i.e. group with initial preoperative differential renal function (DRF) less than 35% and group with initial DRF greater than 35%. The percentage of collagen to whole tissue area were analyzed using image processing program. The relationship between DRF and tissue collagen ratio, SFU and APDRP was evaluated., Results: There were 5 patients in the DRF <35% group and 16 patients in the DRF >35% group. However, APDRP's of the DRF <35% group were also significantly lower than the DRF >35% group. The collagen distribution in the muscle layer was more prominent in the DRF <35% group. Proportionally, percentage of collagen stained surface was significantly higher in DRF <35% group., Discussion: There are numerous histopathological studies evaluating the cause of UPJ obstruction. Besides these studies that are oriented to etiology, there are many studies comparing the histopathological changes at UPJ with surgical outcome and prognosis. In the present study, we found that renal pelvis collagen ratio was significantly increased in patients with lower APDRP and with severe renal function loss. This increase in the collagen content in the renal pelvis have been shown to affect the compliance negatively and decrease APDRP, which leads to a faster loss of renal function. Thus, pelvic structural changes accompanying UPJ obstruction may aggravate urinary obstructive process., Conclusion: Increased renal pelvis collagen ratio negatively affects the expansion of the renal pelvis, which is one of the protective mechanisms of the renal parenchyma, and may be one of the triggering mechanisms of early loss of renal function., Competing Interests: Conflict of interest None., (Copyright © 2022 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Pompe disease is a rare metabolic disorder that is characterized by the deficiency of the acid aglucosidase. As a result, glycogen accumulates in several tissues including motor neurons, skeletal, cardiac, and smooth muscles. The course of the disease varies according to the type of mutations, and the clinical phenotype can be affected by the enzyme levels. Late-onset Pompe disease (LOPD) is a challenging issue for clinicians as it has a milder phenotype with later onset of symptoms and slower disease progression. One of the most important differentials in the diagnosis of LOPD is inflammatory myositis as both diseases have some common clinical and laboratory features. Herein, we presented a 30-year-old female patient initially diagnosed as polymyositis and treated with immunosuppressive therapy without a benefit on her symptoms and later diagnosed as LOPD.

Background: Physical abuse of children covers all types of non-accidental and preventable physical violence and injury perpetrated by the caregiver., Methods: The study included children in the 0-3 years age group who presented at the Emergency Department (ED) with the finding of intracranial hemorrhage during the 5-year period of 2017-2021. These children were evaluated retrospectively, and findings that should be considered were revealed., Results: In the 32 cases included in the study, the most common cranial finding was subdural hematoma, and the most common extracranial finding was ecchymoses. Presentation at the ED was seen to be 2 days after the trauma in 9.37% of the cases., Conclusion: Any physician who encounters findings related to physical abuse of a child must make a forensic and social services report. Physicians who do not make the necessary reports or act to the contrary have both a legal and moral responsibility in the subsequent process.

Objective: The study aimed to show the clinical characteristics and prognosis of the L1 syndrome in patients with L1CAM mutations in the extracellular region., Materials and Methods: Three affected boys and their siblings and parents from a large family were included in this study. Genetic etiology was investigated by whole-exome sequencing in the index patient. The pathogenic variant was detected by whole-exome sequencing and was validated by Sanger sequencing in 3 patients and other family members., Results: We present 2 brothers and their cousin with prenatal onset hydrocephalus, severe developmental and speech delay, corpus callosum agenesis/hypogenesis, epilepsia, and adducted thumbs. A hemizygous missense mutation NM&#95;024003 (c.A2351G:p.Y784C) on exon 18 of L1CAM gene was found in the 3 patients and their carrier mother. This missense mutation in the conserved region of the second fibronectin type III-like repeats located in the extracellular region of L1CAM resulted in the severe phenotype of X-linked inherited L1 syndrome in the patients., Conclusion: L1 syndrome should be considered in the differential diagnosis of male children with intellectual disability, hydrocephalus, and adducted thumbs. While truncating mutations of L1CAM may cause a more severe phenotype, missense mutations cause milder forms. However, pathogenic missense mutations affecting key amino acid residues lead to severe phenotype likely.

Background: The aim of the present study is to investigate the efficiency of roflumilast and ibuprofen in an experimental rat testicular ischemia reperfusion injury model in the light of histological and biochemical data., Methods: A total of 32 prepubertal male rats were randomly divided into four groups as G1: Control Group (testicular torsion/detorsion + saline (0.9% of 2 ml) was applied). G2: Sham Group only right scrotal incision was performed; G3: Ibuprofen Group (tes-ticular torsion/detorsion + ibuprofen administration); and G4 Roflumilast Group (testicular torsion/detorsion + roflumilast adminis-tration). Oxidative markers such as malondialdehyde (MDA), myeloperoxidase (MPO), total sulfhydryl (TSH), and nitrite (NO) levels as well as histopathological changes were analyzed., Results: Tissue MPO, MDA, and NO levels were significantly higher and TSH levels significantly lower in control group compared to sham group (p<0.001). The histopathologic scores of drug groups (Groups 3 and 4) were significantly lower than group 1 (p<0.001). In comparison of Group 3 and Group 4 with each other, the mean values of MPO and MDA were statistically significantly lower in Group 4 (p<0.001). A higher mean value of TSH was found in Group 3 without statistically significance (p=0.32). There was also an insignificant decrease in mean NO values of Group 3 compared to Group 4 (p=0.44). In comparison of drug groups, Group 4 had statistically insignificant better scores., Conclusion: Our results indicate that administrating ibuprofen and roflumilast reduced testicular ischemia reperfusion injury in rat testis torsion model. In comparison, roflumilast is found to be more beneficial.

Background: Just as throughout the world in general, deaths related to animal attacks continue to be a public health problem in Turkey. A decrease in areas of natural habitat because of human invasion, and the use of these areas for hunting, wood-cutting, recreational and sporting activities has increased the possibility of humans encountering wild animals., Methods: A physical retrospective screening was made of the forensic records of a total of 8944 autopsy cases in the Forensic Medicine Institute of the Trabzon Group Directorate in the 10-year period between Januarry 2007 and December 2016., Results: When the types of animals causing the traumatic death were examined, the most frequent was cattle in 15 cases followed by horses in 7 cases, bears in 4 cases, wolves in 2 cases, and wild boars in 2 cases. According to the autopsy results, the cause of death was most often intrathoracic bleeding and intrathoracic organ damage, the regions of the body injured were seen to be most often the chest and back, and the most common form of injury was blunt/crush trauma., Conclusion: From these records, cases were identified where the cause of death was traumatic animal attack, and examination was made of the sociodemographic characteristics, the type of animal that caused the injuries, information about the location of the incident, witness statements, information about the healthcare centre, findings of external examination and autopsy, and the cause.

Although the close relationships between most of the trace elements and tumor formation mechanisms are very well-defined, studies on some elements such as zinc are still ongoing. When examining studies on brain tumors, it was observed that studies investigating the role played by serum zinc levels on tumor etiology and prognosis have gained momentum. In this study, we investigate the relationship between different brain tumor types and serum zinc levels by quantitatively analyzing serum zinc levels in patients with primary brain tumors. In this study, we measured serum zinc levels of 33 brain tumor patients as well as 35 healthy individuals serving as a control group. Metal concentrations were measured using atomic absorption spectrophotometry. Serum zinc levels were lower in patients with primary brain tumors compared to control group (p < 0.05). Additionally, patients' serum zinc levels were significantly different according to their brain tumor types and also according to their age (p < 0.05). Our findings suggest that brain tumor patients' serum zinc levels may play a role in tumor etiology, typology, and prognosis., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Loss of methylation (LoM) of the imprinting control region 1 (ICR1) in the chromosome 11p15.5 domain is detected in patients with Silver-Russell syndrome (SRS), characterized by asymmetric pre- and postnatal growth restriction, and typical craniofacial features. The patients with intrauterine growth restriction (IUGR) possess a high risk for adult metabolic problems. This study is aimed to investigate the methylation levels of the chromosome 11p15.5 region and metabolic problems in children with syndromic and nonsyndromic IUGR. Methylation analysis was performed for chromosome 11p15.5 in 49 patients (33 with suspected SRS and 16 nonsyndromic IUGR) with Netchine-Harbison clinical scoring (NHCS); uniparental disomy for chromosomes 6, 7, 14, and 20 was evaluated for those who were negative. LoM of ICR1 was detected in 14 of 33 suspected SRS patients with 3 or more criteria of NHCS, 5 had borderline LoM. Maternal uniparental disomy of the chromosomes 7 and 14 was found in 2 patients. The overall detection rate of SRS was 45.5%. While clinical findings were similar in patients with LoM and borderline LoM of ICR1, typical craniofacial findings were significantly less in the patients with normal methylation. Methylation patterns were not found to be impaired in the nonsyndromic IUGR group. Metabolic complications were evaluated in a total of 63 patients including 33 SRS-suspicious, 16 nonsyndromic IUGR, and 14 patients with 3M or SHORT syndrome. Increased rates of hypercalciuria, insulin resistance, and dyslipidemia were detected in patients with both syndromic and nonsyndromic IUGR. We would like to emphasize that detecting typical facial findings is effective in the diagnosis of SRS and paying attention to metabolic problems in the follow-up of patients with IUGR is recommended., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2021 by S. Karger AG, Basel.)