No abstract

Wilms tumor (WT) is the most common form of renal tumor in childhood. It has been known that a number of different clinical conditions and chromosome abnormalities accompany Wilms tumor [1,2]. Ochoa syndrome or urofacial syndrome (UFS) is a rare disorder characterized by dysfunctional urinary voiding, urinary tract infection, hydronephrosis, dysmorphic bladder, and dilatation of the ureter and pelvis [3][4][5]. Affected children are characterized by distinctive facial expression when they smile.No data are currently available regarding the development of Wilms tumor in Ochoa syndrome. In this study, we present the development of a Wilms tumor in a child with Ochoa syndrome.A 6-year-old girl admitted to our oncology department with a suspicion of a malignancy. Her past medical history indicated a hospitalization when she was 4 years old with a urinary tract infection. The ultrasonography at that time revealed bilateral grade III hydronephrosis and thickened and trabeculated bladder, suggesting an obstructive uropathy. The diagnosis of Ochoa syndrome had been considered due to neurogenic bladder and urinary incontinence and the presence of an inverted facial expression as she smiles. Familiy history revealed that her parents were first cousins and the patient's 2-year-old sister has been also diagnosed with Ochoa syndrome. Physical examination showed a smooth surfaced mass at the size of about 15 × 10 cm at the upper left quadrant. Additionally, inverted facial expression with grimacing while smiling (Figure 1) was observed. The examination of the other systems and her laboratory analyses were normal. Chromosomal analysis showed that the patient had a normal karyotype. Molecular genetic analysis revealed the absence of HPSE2 mutation for Ochoa syndrome. Abdominal ultrasonography and tomography showed a vascular hyperechoic mass 13 × 8 cm in dimension with a heterogeneous capsule. The mass was originating from the central and upper portions of the left kidney and extended vertically to the spleen and the pelvic region and compressed the renal pelvis. She underwent left nephrectomy and mass excision. Pathology confirmed Wilms tumor with blastemal component. Due to lymph nodes involvement in renal hilus, the tumor was considered

Aim:In present study, we aimed to evaluate the changes in valvular regurgitations in mid-term follow-up of children with first attack acute rheumatic fever diagnosed after updated Jones criteria.Materials and methods:The medical records of the children diagnosed with acute rheumatic fever between June 2015 and November 2018 were evaluated retrospectively. When compared to the findings during diagnosis, the changes in the degree of valvular regurgitation in the last visit were coded as same, regressed, or disappeared.Results:A total of 50 children were diagnosed with the first attack of acute rheumatic fever between the noted dates. Nine patients (18%) could be diagnosed depending on the new criteria. Eight patients did not have carditis, and 35 patients (49 valves) could be followed for a median follow-up period of 11.7 ± 3.3 months. In our study, the valvar lesions continued in 82% of patients with clinical carditis at the end of the first year and the degree of valvular regurgitation decreased in 39% of them. Despite this, in a significantly higher (p = 0.031) ratio of patients with silent carditis (41%), valvar lesions disappeared in the same follow-up period. In 18.4% of the involved valves, regurgitation regressed to physiological level.Conclusion:Updated Jones criteria make it possible to diagnose a significant number of patients, and the ratio of complete recovery among patients with silent carditis is significantly higher. Also, it can be speculated that the normal children in whom a physiological mitral regurgitation is detected should be followed in terms of rheumatic heart disease.

Aim: To evaluate the clinical features of children diagnosed as having acute rheumatic fever between June 2015 and November 2018, and the changes observed in patient groups in comparison with data obtained in previous years. The diagnosis of acute rheumatic fever was made using the updated Jones criteria. Material and Methods: The medical records of pediatric patients who were diagnosed as having acute rheumatic fever between June 2015 and November 2018 using the updated criteria, were examined retrospectively. The data of a previous study that used the old criteria were reorganized and the two groups were compared. Results: A total of consecutive 50 patients [22 males (44%)] who presented in the study period and were diagnosed as having first-attack acute rheumatic fever, were included in our study. Carditis was found in 42 (84%) patients. Manifest carditis was found in 24 patients and silent carditis was found in 18 patients. Joint involvement was present in 34 (68%) patients. Accompanying carditis was present in all 14 patients (28%) who were found to have chorea. Erythema marginatum and subcutaneous nodules were not found in our patients. When evaluated in terms of the updated criteria, a diagnosis of rheumatic fever was made with silent carditis+polyarthralgia in two patients, with silent carditis+monoarthritis in two patients, with polyarthralgia in four patients, and with monoarhtritis in one patient in our study. A diagnosis could be made by means of the updated criteria in a total of 9 (18%) patients. When compared with the previous study, an increase in the rate of silent carditis (from 21.8% to 36%) and a reduction in the rate of total carditis (from 92% to 84%) were found. Conclusion: Our results show that the updated Jones criteria prevent under diagnosis of acute rheumatic fever in an important number of patients.

yanlızca diastolik hipertansiyon saptandı. Sol ventrikül kitle indeksi ile rölatif vücut kitle indexi, gece ortalama diyastolik kan basıncı, gece diyastolik yüklenme ve kolesterol arasında anlamlı pozitif ilişki saptanırken (p<0,05), albümin ve hemoglobin arasında anlamlı negatif korelasyon belirlendi (p<0,05). Sonuç: Çalışma sonuçlarımız, kronik böbrek hastalığı olan prediyaliz çocuklarda sol ventrikül hipertrofisi gelişimini öngörmede yaşam içi kan basıncı izleminin, anlık kan basıncı ölçümlerine göre daha üstün bir yöntem olduğuna ve sol ventrikül kitle indeksinin kan basıncı ölçümlerine ilaveten hemoglobin, kolesterol ve albumin seviyeleri ile de ilişkili olduğuna işaret etmektedir.