Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis

Objectİive: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophagocytic lymphohistiocytosis patients. Materials and Methods: Medical records of 9 patients diagnosed with primary hemophagocytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retrospectively. Clinical, genetic, and laboratory characteristics, family histories, initial complaints, physical examination findings, age at diagnosis, treatment choices, and clinical follow-up of all patients were investigated. Results: The mean age at diagnosis was 11 months (range: 1.5 months to 17 years). Genetic analysis was performed in all patients, and a disease-related mutation was detected in 8 (89%) of them. Among clinical features, 6 (66%) patients had fever, 5 (56%) had splenomegaly, 4 (44%) had lymphadenopathy, 4 (44%) had skin rash, and 4 (44%) had neurological findings. Hemophagocytosis was observed in the bone marrow samples of 6 (66%) patients. Disease remission was achieved in 7 (78%) patients. Hematopoietic stem cell transplantation was performed in 7 (78%) patients. Conclusion: Hemophagocytic lymphohistiocytosis may present with different clinical symptoms that can cause a significant diagnostic delay. The only curative treatment option in primary hemophagocytic lymphohistiocytosis patients is hematopoietic stem cell transplantation. The chemotherapy should be started as early as possible, in order to achieve a disease remission. Patients should be referred to the appropriate bone marrow transplant center for hematopoietic stem cell transplantation as soon as they reach the disease remission

Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosi) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. © Journal of Clinical Research in Pediatric Endocrinology

Bornova Ekolojik Koşullarında Bazı Anason Hatlarının Verim ve Kalite Özelliklerinin Belirlenmesi Üzerine Bir Ön Çalışma

Bu araştırmada, Bornova ekolojik koşullarında seçilmişanason hatlarının bazı verim ve kalite özelliklerininbelirlenmesi amaçlanmıştır. Deneme, Tesadüf BloklarıDeneme Desenine göre dört tekerrürlü olarak EgeÜniversitesi Ziraat Fakültesi, Tarla Bitkileri Bölümüdeneme alanında, 2017 yılı yetiştirme dönemindeyürütülmüştür. Çalışmada bitki materyali olarak, dörtfarklı kökenli (İspanya, Mısır, Suriye, Türkiye) 11 adethat kullanılmıştır. Araştırmada, anason hatlarında bitkiboyunun 42.00-49.00 cm, bitkide dal sayısının 5.25-8.75adet/bitki, meyveli dal sayısının 5.02-6.22 adet/bitki,şemsiye sayısının 6.50-11.00 adet/bitki, bin tane ağırlığının3.00-4.00 g, biyolojik veriminin 184.50-270.25 kg/da,tohum veriminin 77.62-110.83 kg/da, hasat indeksinin%36.5-47.5, uçucu yağ oranının %2.00-3.00 aralığındadeğiştiği tespit edilmiştir. Agronomik ve verim özellikleribakımından Özel sektör-164, Özel sektör-150 ve Çeşme31 hatları, uçucu yağ oranı bakımından ise Çavdır-10 veTefenni-177 hariç incelenen tüm hatlar en yüksek değerleresahip olmuşlardır

Pankeasın Solid Psödopapiller Tümörü: Olgu Sunumu

Pankreasın nadir görülen solid psödopapiller tümörü olgusunu sunmayı amaçladık. Nonspesifik gastrointestinal yakınma ile başvuran 15 yaşında kadın hastada, fizik muayenede epigastrik bölgede dolgunluk tespit ettik. Görüntüleme tetkiklerinde distal pankreasta solid psödopapiller tümörü düşündüren lezyonu distal pankreatektomi ile tedavi ettik. Çoğunlukla genç kadınlarda saptanan, cerrahi rezeksiyonla iyi prognoz elde edilmesi nedeniyle pankreasın solid psödopapiller tümörünün diğer pankreas malignitelerinden ayrıldığı akılda tutulmalıdır

Effect of diosmin on lipid peoxidation and organ damage against subacute deltamethrin exposure in rats.

The aim of this study was to investigate the protective efficacy of diosmin against subacute deltamethrin exposure. For this purpose, 40 male Wistar albino rats were used. The animals were assigned to the following 4 groups: control group (received corn oil vehicle alone), diosmin-treated group (50 mg/kg bw/day orally), deltamethrin-exposed group (5 mg/kg bw/day, orally) and coadministered group (5 mg/kg bw/day deltamethrin and 50 mg/kg bw/day diosmin, orally) for 28 days. Some lipid peroxidation/antioxidant status/biochemical markers were evaluated in blood/tissue (liver, kidney, brain, heart and testis) samples and the histopathological architecture was assessed. Compared with the control group, no alteration was detected in the parameters and histological findings of the diosmin-treated group. Deltamethrin toxicity was associated with significantly increased plasma, cardiac, hepatic, renal, cerebral and testicular levels of MDA and NO, and significantly decreased GSH levels (p < 0.05). Antioxidant enzyme status (SOD, CAT and GSH-Px activities) displayed either decrease or increase (p < 0.05). Significant increase was detected in AST and ALT activities and urea and creatinine levels (p < 0.05). The values of the group coadministered with deltamethrin and diosmin were similar to the values of the control group. Diosmin ameliorated deltamethrin-induced lymphocytic and histiocytic infiltration and subendocardial oedema in the heart. Combined administration also minimized hepatic, renal, testicular and cerebral histopathological findings. The alterations detected in various toxicological parameters correlated well with the histopathological changes observed in various organs. In conclusion, it is suggested that diosmin could provide protection against deltamethrin-induced toxicity and organ damage in rats