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Rare Serious Etiologies in Patients Admitted to Pediatric Clinics with Acquired Torticollis

Abstract Purpose Torticollis is a clinical symptom characterized by an abnormal head posture. It can be caused by simple muscle-related pathologies, space-occupying lesions, neurological diseases, genetic disorders, or even ophthalmic pathologies. In this study, we evaluated the underlying etiologies in patients admitted to pediatric emergency departments and pediatric clinics due to torticollis. Methods This retrospective study included 13 patients admitted with torticollis between July 1, 2018, and December 1, 2021. Results Four patients had cranial pathologies, including cerebellar ependymoma, choroid plexus carcinoma, pontine glioma, and diffuse astrocytoma. One patient had a demyelinating disorder: anti-myelin oligodendrocyte glycoprotein (MOG antibody)-associated disease (MOGAD). Three patients had spinal pathologies, including atlantoaxial subluxation, vertebral osteoblastoma, and spinal dural arteriovenous fistula. Two patients presented with ear, nose, and throat pathologies; specifically, laryngomalacia and reactive lymph nodes. One patient had epilepsy, one had ocular pathologies (strabismus and esotropia), and one had a rare neurodegenerative genetic disorder resulting in epileptic encephalopathy. Conclusions Torticollis is a symptom that may indicate serious underlying conditions. When evaluating children with torticollis, it is important to consider the possibility of a posterior fossa tumor until it is ruled out. Radiologic imaging and a comprehensive ophthalmologic examination should be performed, especially to assess intracranial and ocular pathologies, even if theneurological examination appears normal. This report presents a case of torticollis associated with MOGAD, which, to the best of our knowledge, has not been previously reported. Additionally, the report discusses a wide spectrum of torticollis presentations, including an extremely rare case involving a patient with ADPRHL2mutation who presented with paroxysmal torticollis and developed progressive neurodegeneration. These findings emphasize the importance of investigating multiple underlying etiologies of torticollis.

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A Case of Acute Tubulointerstitial Nephritis Following the Use of Chenopodium album L

Abstract Introduction: Chenopodium album, commonly known as "lambsquarters," is a plant consumed as food and used in traditional medicine. Its popularity is increasing due to the belief that it has fewer side effects compared to synthetic drugs. However, its use can lead to acute or chronic poisoning. The growing interest in herbal remedies, along with uncontrolled usage and disregard for expert recommendations, contributes to adverse effects. Case Presentation : A 68-year-old female patient presented to the emergency department with nausea, vomiting, and flank pain following the use of lambsquarters. Impaired kidney function was detected in the patient. A biopsy performed after Chenopodium album usage led to the diagnosis of tubulointerstitial nephritis (TIN). The patient responded positively to corticosteroid and hemodialysis treatment. Discussion Caution is necessary in the use of herbal medicines and traditional treatments. A thorough evaluation of factors such as patients' nutritional status, herbal product usage, medication history, and genetic background is crucial. Chenopodium album can cause tubulointerstitial nephritis, resulting in kidney damage. Similarly, heavy metal poisoning through herbal products can lead to kidney damage. Adopting a multidisciplinary approach in the diagnosis and treatment process can contribute to better patient management. Conclusion This case presents a rare instance of tubulointerstitial nephritis developed due to the use of herbal products. Physicians should inquire about patients' history of exogenous substance use and conduct a comprehensive assessment, keeping such situations in mind. Conscious use of herbal medicines and traditional treatments can help prevent serious complications like kidney damage.

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The Involvement of Gas6/sAXL Signaling Pathway in Patients with Idiopathic Granulomatous Mastitis

Abstract Background:Idiopathic granulomatous mastitis (IGM) is an uncommon, benign, chronic inflammatory breast disease. There are several hypotheses about the etiology of IGM. The interaction between growth arrest-specific protein 6 (Gas6)/Tyro, AXL, and Mer (TAM) affects the regulation of innate immune reactions and promotes the induction of phagocytosis and a reduction in proinflammatory cytokine expression. We analyzed the potential implications of the Gas6/sAXL signaling pathway, which is essential for the inflammatory response to the pathophysiology of IGM, the cause of which is yet unknown. Methods: This study included 37 patients. Nineteen of these patients achieved a complete response solely through medical treatment (Group R), while the remaining 18 comprised individuals who, following medical treatment, did not achieve a complete response and necessitated supplementary surgery (Group NR). Logistic regression analysis was used to define predictive factors. The optimal cutoff values of the predictive prognostic factors for resistance to treatment were identified using receiver operating characteristic (ROC) curve analysis. Results: No significant differences were detected between the two groups in terms of lesion size, age, parity, attack frequency, white blood cell count, presence of accompanying axillary lymphadenopathy (LAP), or smoking history (p>0.05). Significant differences were detected in terms of Gas6, sAXL, and the presence of accompanying abscess (p<0.05). Conclusions:Decreased Gas6 and sAXL levels can be explained by two mechanisms. Inflammation may have developed due to Gas6 deficiency. The finding that low Gas6 levels are an independent risk factor for IGM treatment resistance will be a new method for treating this disease.

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The Assessment and Management of Childhood Masturbation: An Analysis of 90 Cases.

The child's self-stimulating pleasure behavior is defined as childhood masturbation (CM). Diagnosis of CM is mainly based on behavior and analysis of video recordings. This study aims to investigate etiological factors, movement patterns, and treatment options.Medical records and video recordings of CM in our clinic between 2015 and 2020 were retrospectively reviewed. Ninety patients aged 8 months to 9 years were included in our study. The male-to-female ratio was 23/67. The mean age at onset of masturbation (mean ± standard deviation) was 21.42 ± 18.44 (6-107) months. Note that 27.7% (32) of the patients were taking antiepileptic drugs before admission.Eight of the 90 patients had abnormal electroencephalograms. The time of onset of CM was related to cessation of breast milk in 24.4%, separation from the mother in 43.3%, new siblings in 16.6%, initiation of toilet training in 7.7%, and parental divorce in 6.6%. Behavioral therapy was sufficient in 71.1%. Hydroxyzine hydrochloride in 19 (21.1%) and risperidone in 9 (10%) were given in the remaining cases. Overall, 23/28 of the cases receiving medication improved during follow-up. Physicians may have difficulty identifying repetitive movements in CM. Misdiagnosis or delayed diagnosis may lead to unnecessary use of antiepileptic drugs, delayed initiation of treatment, and prolonged treatment duration. Video recordings are important in the differential diagnosis of CM. CM may have psychosocial causes and can often be effectively treated with behavioral therapy. Pharmacological treatment (hydroxyzine hydrochloride and risperidone) may be considered in cases that do not respond to behavioral treatment.

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Serum and Tissue miRNA Expression Profiles of Pediatric Pulmonary Hypertensive Patients

Abstract Purpose: Pulmonary arterial hypertension is the major complication of the congenital heart diseases with left to right shunt. It is essential to diagnose these patients before developing pulmonary vascular disease. Scientists are in the search of a novel biomarker. In the present study we aimed to determine the miRNA expression profile in blood and heart tissue samples of children having pulmonary hypertension due to congenital heart disease. Method: The expression profiles of 384 miRNAs were determined in the blood and the heart tissue samples of the pulmonary hypertensive patients with Congenital heart defects (25 patients) in comparison with the healthy control group (15 patients) by real time PCR method. Tissue samples were taken from their pulmonary artery during surgery. Blood samples were repeated 10 days after surgery. Results: Twelve miRNAs miR-124-3p, miR-149-5p,miR-184,miR-200a-3p,miR-203a,miR-204-5p,miR-205-5p,miR-208b,miR-211-5p,miR-488-3p,miR-498,miR-885-5p) were found increased more than 100 times compared to the control. Among these miRNAs, miR-200a-3p, which increased 804 times preoperatively compared to the control group, draws attention. miR-499-5p levels were significantly high in patients with pulmonary arterial pressure<40mmHg. miR-656 was found significantly high in the patients whose PAP>40 mmHg. Expression of 10 miRNAs was decreased in postoperative period. In tissue samples 3 miRNAs (miR-218,miR-146-5p,miR-144-3p) were found significantly high in patients. Conclusion: Expression levels of miR-200a-3p, miR-204-5p, and miR-184 increased during the progression of PAH in the blood, and vanished after the surgery. This indicates that these 3miRNAs and their target genes and associated pathways can be used as a biomarker for the diagnosis or follow-up of the disease.

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Adolesanlarda B12 eksikliği ve Helikobakter Pylori Sıklığı

Abstract:
 Aim: Low intake of Vitamin B12 (vit B 12) with malabsorptions are the most critical factors causing the deficiency. Vit B 12 deficiency has also been associated with Helicobacter pylori (HP) gastritis in previous studies. This study's main goal is to find a similar relation with recent studies or an opposite conclusion. For this purpose we choose the most suitable group; patients with the same two diseases HP gastritis and vit B 12 deficiency.
 Patients and methods: The whole study was conducted retrospectively. İn the study we included 19 patients (mean age: 15.6 ± 1.3 years ). The B12 levels of patients undergoing upper gastroscopy for any reason were studied. We tried to figure out whether B12 deficiency and HP positivity were statistically significant. The Electrochemiluminescence immunoassay method has been used for serum vit B12 level measurement. 
 Results: There are 15 (62.5%) patients with neurological symptoms and 6 (25.0%) patients with fatigue and weakness. Only 3 (12.5 %) patients have no symptoms. There was no statistical significance between these groups (p=0.224). There are 18 (75%) patients with HP positivity. HP positive and negative patients have levels of B12 108.6 ± 31.1 pg/mL and 113.5 ± 41.2 pg/mL respectively (p=973).
 
 Conclusion: There were no statistical significance with vitamin B 12 levels in HP-positive patients and HP-negative patients. İt sure be beneficial to use a bigger aspect patients group to have better results between HP infection and vitamin B 12 deficiency relation.

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Yenidoğan yoğun bakım ünitesinde ölüm riskinin çok merkezli değerlendirmesi

OBJECTİVE: In neonatal intensive care, mortality is a source of great pressure and sadness on the family and the doctor. By its nature, intensive care services serve as a support point on the fine line between life and death. Minimizing this mortality is one of our colleagues' primary goals. For this reason, this study, it is aimed to determine the causes that have an effect on mortality and to minimize these causes with subsequent evaluations.
 MATERİAL AND METHOD:
 Our study covers the retrospective data of the babies who died in the neonatal unit between 2015 and 2019. In this context, patients who were born at 22 weeks and older and were hospitalized in the neonatal unit or needed resuscitation in the delivery room were included. Our colleagues from three different hospitals participated in this study with the patients they registered. One of these centers is a training and research hospital and the other centers are state hospitals with busy delivery rooms. Babies lost in utero were not included in the study. Maternal and newborn mortality risk factors were recorded in the perinatal period. In addition, family demographic characteristics, causes of death, and mortality rates were recorded. These recorded data were analyzed according to Wiggleswort's mortality classification. Snappe ll scoring was used to evaluate the probability of death.
 RESULT: Of the 3112 babies admitted to our neonatal units during the aforementioned four years, we lost 79. When we examined the records of the newborns we lost, prematurity stood out as the most common cause of death. The causes we see less frequently, such as fatal congenital anomalies and severe genetic anomalies incompatible with life, drew attention as their incidence decreased. When we focus, we found that the loss rate was higher in the early neonatal period than in other periods. İn further detail, we see that the highest mortality rate occurred on the first day. While losses due to prematurity were more common in the first weeks of gestation, it was observed that the causes of death changed as the weeks of gestation progressed, and the incidence of genetic diseases and congenital anomalies increased.
 
 CONCLUSİON: As we know, the causes of neonatal intensive care losses are diverse, although their frequency varies. The most important determinant of this diversity is gestational age. In this retrospective study, we found that causes such as prematurity and congenital anomalies were among the most common causes. Similar to our results, many international publications have shown that these causes have the highest mortality rate.
 Improving follow-up and care in the perinatal period has an impact on reducing the causes of mortality we listed. Although not all causes can be eliminated, there are ethical debates about abortion for diseases incompatible with life.

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An important tool in lymphedema management: validation of turkish version of the gynecologic cancer lymphedema questionnaire

Abstract Backround: The aim of this study was to research the reliability and validity of the Turkish version of the Gynecologic Cancer Lymphedema Questionnaire (GCLQ) for individuals with gynecologic cancer.Materials and Method: The study included 60 patients who underwent gynecologic cancer surgery with lower limb lymphedema (LLLE) in the lymphedema group (LE) and 30 who underwent gynecologic cancer surgery without LLLE in the non-LE group. The Turkish adaptation of the GCLQ was completed by considering the cultural adaptation process. For the evaluation of lymphedema, circumference measurement, skin layer thickness and lymphoscintigraphy assessments were performed. The intraclass correlation (ICC) coefficient was calculated for GCLQ test-retest reliability, the Cronbach alpha was calculated for internal consistency reliability and the criteria validity method was used for survey validity.Results: The symptom subsections and total score of the GCLQ, the ICC values for test-retest points were 0.780, 0.968, 0.695, 0.945, 0.896, 0.945, and 0.947. The Cronbach 𝛼 values for internal consistency were 0.928, 0.824, 0.656, 0.429, 0.923 and 0.948 for the subsections. Criteria validity was used for the validity analysis and statistically significant (p<0.05) positive correlations were determined between skin fold thickness measurements and total points on the scale in the LE group for values at the midpoint of the right and left tibial shaft (r=0.336, r=0.284).Conclusion: The GCLQ was determined to be a reliable and valid scale to differentiate patients with LLLE from those without LLLE in a Turkish female population.

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