Results of rhabdomyosarcoma treatment in a developing country.

Fifty-one children (median age: 4.5 years; 4 months-16 years) diagnosed with rhabdomyosarcoma were treated in our center between 1980-1999. The primary sites were head and neck in 31.4%, the genito-urinary system in 21.6%, and extremities in 9.8% of the patients. The histopathologic subtypes were embryonal in 80.4%, alveolar in 9.8%, and undifferentiated in 9.8%. The majority of the patients were considered group III (47%) and group IV (25.5%) according the criteria of the Intergroup Rhabdomyosarcoma Study (IRS). Primary total tumour resection was performed in only 27.5% of the patients. The patients were treated with assigned regimens of IRS II and IRS III protocols. Radiotherapy was applied to 92.1% of the patients. Thirty-four patients (66.7%) were lost to follow up, and of the remaining 17 patients, 7 patients (41.2%) died, relapse occurred in 9 patients (52.9%) and 10 patients (58.8%) are alive. The percentage of cases lost to follow up during the first 10 years and the following 9 years of the study were 77.4% and 50%, respectively. In compliance with cancer treatment remains a major problem in developing countries.</p

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics. Methods: A high-throughput sequencing strategy of 12 genes linked to HLH was validated in 13 patients with previously identified HLH-associated mutations and prospectively evaluated in 58 HLH patients. Moreover, 2504 healthy individuals from the 1000 Genomes project were analyzed in silico for variants in the same genes. Results: Analyses revealed a mutation detection sensitivity of 97.3 %, an average coverage per gene of 98.0 %, and adequate coverage over 98.6 % of sites previously reported as mutated in these genes. In the prospective cohort, we achieved a diagnosis in 22 out of 58 patients (38 %). Genetically undiagnosed HLH patients had a later age at onset and manifested higher frequencies of known secondary HLH triggers. Rare, putatively pathogenic monoallelic variants were identified in nine patients. However, such monoallelic variants were not enriched compared with healthy individuals. Conclusions: We have established a comprehensive high-throughput platform for genetic screening of patients with HLH. Almost all cases with reduced natural killer cell function received a diagnosis, but the majority of the prospective cases remain genetically unexplained, highlighting genetic heterogeneity and environmental impact within HLH. Moreover, in silico analyses of the genetic variation affecting HLH-related genes in the general population suggest caution with respect to interpreting causality between monoallelic mutations and HLH. A complete understanding of the genetic susceptibility to HLH thus requires further in-depth investigations, including genome sequencing and detailed immunological characterization.Peer reviewe

Different clinical presentation of infectious mononucleosis in children: a retrospective analysis of 369 cases

Aim: The aim of this study was to investigate the clinical findings and serologic test results of the patients diagnosed with Epstein-Barr virus (EBV)-induced infectious mononucleosis

Retrospective Evaluation of Positive Blood Culture of Bacteremic Cases With Fatal Outcome

Objective: Bloodstream infection (BSI) is one of the major causes of morbidity and mortality associated with sepsis in the world. The aim of this retrospective study is to investigate positive blood cultures in adult patients with fatal outcome, and to evaluate the results of their blood cultures, the etiology of bacteremia and whether they received appropriate antimicrobial therapy or not

Mediastinal Masses In Children: Experience With 120 Cases

Primary mediastinal malignancies are rare tumors and can originate from any mediastinal organ or tissue such as thymic, neurogenic, lymphatic, germinal, ormesenchymal. The authors reviewed all cases of primary pediatric mediastinal masses diagnosed over a 25-year period to determine the pattern of presentation, the histology, and the outcome of the surgical treatment. In this study, 120 primary pediatric mediastinal mass cases diagnosed between 1985 and 2011 are retrospectively evaluated according to their age, sex, symptoms, anatomical location, surgical treatment, and histopathological evaluation. The median age of the patients was 5.8 years. There were 34 benign and 86 malign tumors. Thirty patients were asymptomatic. Common symptoms in the patients were cough, dyspnea, fatigue, fever, abdomen pain, back pain, and neurological symptoms. According to their origins, they were presented as neurogenic tumors (38.3%), lymphomas (18.3%), undifferentiated sarcomas (15%), germ cell tumors (7.5%), and the other tumors (22%) thymic pathologies, lymphangiomas, rhabdomyosarcomas, lipomas, hemangiomas, and Wilms' tumor. Complete resection of the tumor was performed in 86 patients, partial resection of the tumor was the intervention in 11 patients. In 23 patients, biopsy was undertaken. Because of the high incidence of asymptomatic or nonspecific presentation such as the upper airway disease, the presentation of a mediastinal mass in children may be challenging. Neurogenic tumors or lymphomas are indicating surgery, if possible complete resection, for both benign and malignant conditions. Although surgery is the mainstay of therapy for most mediastinal tumors, an experienced multidisciplinary approach is necessary

Severe and complicated soft tissue infections: a single-centre case series.

Objective: To assess the demographic and clinical characteristics, laboratory findings, and economic burden of patients with a diagnosis of complicated skin and soft tissue infection (cSSTI). Method: The demographic and clinical characteristics, laboratory findings, surgical interventions, cost of treatment, and outcome of patients diagnosed with cSSTIs between January 2017 and December 2019 were retrospectively analysed. Results: A total of 24 patients with cSSTIs were included in the study. The median age was 53 (22-85) years, and 14 (58%) were female. The most common comorbidity was diabetes (54%). On admission, 75% of patients presented with sepsis, and 70% had a high-grade Laboratory Risk Indicator for Necrotising Fasciitis (LRINEC) score. The causative microorganism was isolated from 21 (87%) patients, and the multidrug resistance rate of Gram-negative bacteria was 50%. The median number of debridements was 3 (1-12). In all, 11 patients were followed up in the intensive care unit, and the mortality rate was 29%. The presence of confusion (p=0.025), causative Gram-negative microorganisms (p=0.009), hyponatraemia (p=0.034), the need for intensive care (p=0.001), anti-meticillin-resistant Staphylococcus aureus antibiotics (p=0.023) and the rate of antibiotic changes during treatment (p=0.019) were significantly higher in the non-survival patient group. Hyponatraemia was a significant independent risk factor for mortality (p=0.048). The median cost of per-patient treatment was $9453 USD in the non-surviving and$1536 in the surviving group. Conclusion: It is important to know possible factors and local resistance rates at the beginning of empirical antibacterial and surgical treatment. The presence of hyponatraemia, sepsis and a high LRINEC score can be considered to be the mortality predictors

Asymptomatic intracranial hemorrhage in a newborn with congenital factor VII deficiency and successful treatment with recombinant activated factor VII.

Intracranial hemorrhage is considered the most common cause of death in newborns with congenital factor VII (FVII) deficiency. Recombinant activated FVII (rFVIIa) provides specific replacement therapy, however there is limited experience with its neonatal use. We describe our experience about the treatment of intracranial hemorrhage in a newborn with congenital FVII deficiency and emphasize the importance of imaging in asymptomatic patients. She presented with ecchymoses on her skin, no other pathological clinical signs, prolonged PT, normal PTT and FVII activity of 2%. Intracranial hemorrhage was diagnosed while screening for internal bleedings. Treatment with rFVIIa resulted in stabilization and regression of the hematoma