Tuncer Turhan

Grange syndrome, caused by biallelic loss‐of‐function variants in YY1AP1 , is characterized by multivascular stenoses, renovascular hypertension, brachydactyly, syndactyly, and mild cognitive impairment. Although RNF213 variants are typically associated with Moyamoya disease and systemic arterial stenosis, evidence suggests that pathogenic RNF213 variants may contribute to a broader vascular phenotype. We describe a 15‐year‐old girl with Moyamoya vasculopathy presenting with bilateral renal artery stenosis, brachydactyly, and intellectual disability. Her history included left‐arm weakness and seizures at 10 months of age. She underwent surgical revascularization at 1.5 and 3 years of age for Moyamoya disease. Upon evaluation for hypertension, the patient was diagnosed with bilateral renal artery stenosis. Physical examination revealed dysmorphic features including deep‐set eyes, up slanting palpebral fissures, a broad nasal bridge, low‐set, posteriorly rotated ears, a broad left thumb, brachydactyly, and syndactyly of the toes. Whole‐exome sequencing was negative; trio whole‐genome sequencing identified a de novo, likely pathogenic RNF213 variant (c.12341C > G). This case expands the phenotypic spectrum associated with RNF213 variants, presenting a Grange‐like phenotype. Our study highlights RNF213 as a candidate gene for such phenotypes. A negative YY1AP1 result does not exclude a Grange‐like phenotype, emphasizing the need for comprehensive genetic testing and early vascular surveillance.

Amaç: Her yıl Dünyada 0-19 yaş arası yaklaşık 300.000 olgu kanser tanısı almaktadır. Gelişmiş ve gelişmekte olan ülkelerde çocukluk çağı kanserlerinin dağılımı ve sağ kalım hızlarında belirgin farklılık bildirilmektedir. Bu çalışmada amacımız merkezimizde kayıtlı olan çocukluk çağı kanser olgularının epidemiyolojik özelliklerini ve sağ kalım hızlarını değerlendirmektir. Gereç ve Yöntem: Merkezimizde 1992-2017 tarihleri arasında 0-19 yaş arasında kanser tanısı alan 4602 hastanın verileri Ege Üniversitesi Kanserle Savaş ve Araştırma Merkezi kayıtları kullanılarak geriye dönük olarak değerlendirildi. Yaşa, cinsiyete, yıllara göre tümör dağılımları ve genel sağ kalım hızları değerlendirildi. Bulgular: Olguların %55,3’ü erkek, %44,7’si kız ve erkek/kız oranı 1,23/1 idi. Olguların ortalama tanı yaşı 5,6 yıl idi. Merkezimizde en sık lösemi (%25,6), ikinci sıklıkta santral sinir sistemi tümörleri (%23,4), üçüncü sıklıkta ise lenfomalar (%14,2) görülmekteydi. Olguların ortalama izlem süresi 41,4 ay (0-316 ay) idi. Tüm olgular için beş yıllık genel sağ kalım hızı %74 saptandı. Sonuç: Merkezimizdeki kanser tiplerinin dağılımı ve genel sağ kalım hızları literatür ile benzerdir. Ülkemiz verileri ile karşılaştırıldığında genel sağ kalım hızlarımızın daha iyi olduğu görülmüştür. Bu sonuçlar sağ kalım hızlarının bölgeden bölgeye değiştiğini, bu değişimde hasta ve hasta yakınının farkındalık düzeyinin, gerekli tedaviye ulaşabilme imkanının ve multidisipliner merkezlerin varlığının önemini düşündürmektedir.

Massive hemorrhages pose a significant problem in intraventricular endoscopic surgeries. These hemorrhages have the potential to cause mortality and morbidity, particularly in excisional surgeries. Often, the bleeding can be controlled only by cauterization and liquid irrigation, due to the incongruity of the use of antihemorrhagic agents in the fluid. The final option to stop the massive bleeding is the dry-field maneuver. In this study, the effects and clinical results of the dry-field maneuver in bleeding control of a massive bleeding were investigated.

Neuroenteric cysts (NC) are rare pathologies and localized generally in posterior mediastinum or abdomen where they may extend to spinal canal through a vertebral defect. Isolated spinal lesions require dorsal/ventral laminectomy and thoracic ones thoracotomy or thoracoscopy. Posterolateral approach via thoracotomy is generally performed for lesions with both thoracic and spinal components. Minimal invasive excision of a thoracic NC with spinal extension in an infant is presented herein. A term female newborn with an antenatal (26th week) diagnosis of congenital diaphragmatic hernia (CDH) was admitted. On physical examination, she was normal except mild dyspnea and CDH were excluded on radiogram. Left parenchymal opacity necessitated thorax tomography that revealed lobulated cystic lesion (6 × 3.5 × 4.5 cm) in posterior mediastinum. MRI showed intraspinal extension of the lesion through a hemivertebrae (6th). Two-stage procedure was planned for suspected neuroenteric cyst. First, intraspinal component was excised with dorsal laminectomy and the connection was closed. Then, the thoracic component was excised thoracoscopically. Histopathological evaluation confirmed the diagnosis. Total parenteral nutrition and high dose somatostatin analog was needed due to transient left chylothorax on postoperative course. She was well and symptom-free in postoperative period. Neuroenteric cysts may lead to misdiagnoses in antenatal period. MRI is critical to show spinal and vertebral pathologies in suspected cases. Thoracoscopy may safely be performed for thoracic lesions with spinal extension in two-stage approach following closure of the connection and excision of the spinal component.

Background: Vancomycin is the mainstay of treatment for methicillin-resistant Staphylococcus aureus (MRSA) meningitis. However, successful outcomes with linezolid have not been reported in a large series of patients. We conducted a single-center retrospective cohort study to compare vancomycin with linezolid in the treatment of MRSA meningitis. Methods: We extracted data and outcomes for all adult patients (age >18 years) with culture-proved MRSA meningitis who received vancomycin or linezolid between January 2006 and June 2011. A definite diagnosis of meningitis was based on the isolation of MRSA in at least one cerebrospinal fluid (CSF) culture and findings in CSF that are typical of the infection. Linezolid was given intravenously (IV) at a dosage of 600 mg q12h and vancomycin IV at 500 mg q6h. Results: A total of 8 patients with MRSA meningitis (5 male, 3 female; age [mean±SD] 61.6±13.2 years) received vancomycin and 9 patients (7 male, 2 female; age 59.1±15.6 years) received linezolid. All isolated strains of MRSA were susceptible to both vancomycin and linezolid. The rates of microbiologic success with linezolid or vancomycin, in terms of clearance of MRSA from CSF on day 5, were 7/9 and 2/8 (p=0.044, Fisher exact test). No severe adverse events occurred in either treatment arm of the study. One-month survival of the patients in whom treatment was successful microbiologically was 2/2 in the vancomycin-treated group and 4/7 in the linezolid-treated group. Minimum inhibitory concentration (MIC) data for vancomycin were available for 5/6 treatment failures with vancomycin, and vancomycin MIC values of these five strains were 2 mg/L. Conclusion: Analysis of the findings in the limited cohorts in our study suggests that linezolid is superior to vancomycin for treating MRSA meningitis, especially in cases in which there is a high MIC (2 mg/L) for vancomycin. A clinical study involving larger cohorts may increase the evidence available in relation to this question.

In this study, we aimed to compare the antibacterial activities of daptomycin and vancomycin in the treatment of methicillin-resistant Staphylococcus aureus (MRSA) meningitis (induced by MRSA strain ATCC 43300) in an experimental rabbit meningitis model. After an 8-h period of treatment, bacterial counts decreased significantly in both treatment groups compared to the control group ( P < 0.05). However, there was no statistically significant difference between treatment groups. Our results suggest that the antibacterial activity of daptomycin is similar to vancomycin for treatment in the experimental MRSA meningitis model in rabbits.