Adult infiltrating gliomas with WHO 2016 integrated diagnosis: additional prognostic roles of ATRX and TERT

The “integrated diagnosis” for infiltrating gliomas in the 2016 revised World Health Organization (WHO) classification of tumors of the central nervous system requires assessment of the tumor for IDH mutations and 1p/19q codeletion. Since TERT promoter mutations and ATRX alterations have been shown to be associated with prognosis, we analyzed whether these tumor markers provide additional prognostic information within each of the five WHO 2016 categories. We used data for 1206 patients from the UCSF Adult Glioma Study, the Mayo Clinic and The Cancer Genome Atlas (TCGA) with infiltrative glioma, grades II-IV for whom tumor status for IDH, 1p/19q codeletion, ATRX, and TERT had been determined. All cases were assigned to one of 5 groups following the WHO 2016 diagnostic criteria based on their morphologic features, and IDH and 1p/19q codeletion status. These groups are: (1) Oligodendroglioma, IDH-mutant and 1p/19q-codeleted; (2) Astrocytoma, IDH-mutant; (3) Glioblastoma, IDH-mutant; (4) Glioblastoma, IDH-wildtype; and (5) Astrocytoma, IDH-wildtype. Within each group, we used univariate and multivariate Cox proportional hazards models to assess associations of overall survival with patient age at diagnosis, grade, and ATRX alteration status and/or TERT promoter mutation status. Among Group 1 IDH-mutant 1p/19q-codeleted oligodendrogliomas, the TERT-WT group had significantly worse overall survival than the TERT-MUT group (HR: 2.72, 95% CI 1.05–7.04, p = 0.04). In both Group 2, IDH-mutant astrocytomas and Group 3, IDH-mutant glioblastomas, neither TERT mutations nor ATRX alterations were significantly associated with survival. Among Group 4, IDH-wildtype glioblastomas, ATRX alterations were associated with favorable outcomes (HR: 0.36, 95% CI 0.17–0.81, p = 0.01). Among Group 5, IDH-wildtype astrocytomas, the TERT-WT group had significantly better overall survival than the TERT-MUT group (HR: 0.48, 95% CI 0.27–0.87), p = 0.02). Thus, we present evidence that in certain WHO 2016 diagnostic groups, testing for TERT promoter mutations or ATRX alterations may provide additional useful prognostic information

Surgical and conservative treatment of patients with congenital scoliosis: α search for long-term results

<p>Abstract</p> <p>Background</p> <p>In view of the limited data available on the conservative treatment of patients with congenital scoliosis (CS), early surgery is suggested in mild cases with formation failures. Patients with segmentation failures will not benefit from conservative treatment. The purpose of this review is to identify the mid- or long-term results of spinal fusion surgery in patients with congenital scoliosis.</p> <p>Methods</p> <p>Retrospective and prospective studies were included, reporting on the outcome of surgery in patients with congenital scoliosis. Studies concerning a small numbers of cases treated conservatively were included too. We analyzed mid-term (5 to 7 years) and long-term results (7 years or more), both as regards the maintenance of the correction of scoliosis and the safety of instrumentation, the early and late complications of surgery and their effect on quality of life.</p> <p>Results</p> <p>A small number of studies of surgically treated patients were found, contained follow-up periods of 4-6 years that in the most cases, skeletal maturity was not yet reached, and few with follow-up of 36-44 years. The results of bracing in children with congenital scoliosis, mainly in cases with failure of formation, were also studied.</p> <p>Discussion</p> <p>Spinal surgery in patients with congenital scoliosis is regarded in short as a safe procedure and should be performed. On the other hand, early and late complications are also described, concerning not only intraoperative and immediate postoperative problems, but also the safety and efficacy of the spinal instrumentation and the possibility of developing neurological disorders and the long-term effect these may have on both lung function and the quality of life of children.</p> <p>Conclusions</p> <p>Few cases indicate the long-term results of surgical techniques, in the natural progression of scoliosis. Similarly, few cases have been reported on the influence of conservative treatment.</p> <p>In conclusion, patients with segmentation failures should be treated surgically early, according to the rate of deformity formation and certainly before the pubertal growth spurt to try to avoid cor- pulmonale, even though there is lack of evidence for that in the long-term. Furthermore, in patients with formation failures, further investigation is needed to document where a conservative approach would be necessary.</p

Respiratory syncytial virus [Solunum sinsisyal virüsü]

Respiratory Syncytial Virus (RSV) is the main cause of lower respiratory tract infections (LRTI) in infants and children around the world. S.pneumonia, H.influenza and RSV are the most common microorganisms. Isolation ratio of RSV is one of the important causes of mortality in LRTI which ranges between 30-90% in RSV, 50-90% in bronchiolitis and 30-60% in pneumonia. The course of RSV infection is usually mild but 1% of the previously healthy children and 50% of the children in the risk group (cardiopulmonary disease, immundeficiency, prematures) need hospitalization. The most common important strategy in decreasing the spread of RSV infections is the education of the health personnel about epidemiology of RSV, rapid diagnosis and treatment of RSV infections

Occurrence and molecular identification of zoonotic microsporidia in pet budgerigars (Melopsittacus undulatus) in Turkey.

Encephalitozoon spp. and Enterocytozoon bieneusi are well-knownmicrosporidian pathogens, recently classified as fungi, infecting humans and reptiles, mammals, and birds. Budgerigars (Melopsittacus undulates) are the most preferred captive pet birds in the households. Prevalence and molecular data on microsporidian species in budgerigars are scarce worldwide. The aim of the present study was to investigate the occurrence and genotypes of Encephalitozoon spp. and E. bieneusi in budgerigars, and to reveal their zoonotic potential. A total of 143 fecal samples were collected from owned healthy budgerigars in Turkey. Encephalitozoon spp. and E. bieneusi were examined by nested PCR targeting the ribosomal internal transcribed spacer (ITS) region and sequenced for identifying Encephalitozoon spp. and E. bieneusi. The overall prevalence of E. hellem and E. bieneusi was 14.7% ( 21/143) and 3.5% (5/143), respectively. Two genotypes of E. hellem were identified, including one known 1A (n = 18) and a novel TURK1B (n = 3). In addition, we determined two E. bieneusi genotypes, including one known N (n = 2) and a novel TURKM1 (n = 3). E. hellem 1A and novel TURK1B clustered as a sister taxon, and genotype N and novel TURKM1 genotypes fall into group 2 of E. bieneusi in the phylogenetic tree. Novel genotypes of E. hellem and E. bieneusi were described for the first time in the avian host. Moreover, E. bieneusi genotype N was first detected in avian hosts in the present study. This study contributes to the current knowledge on the molecular epidemiology and transmission dynamics of E. hellem and E. bieneusi

Diagnosis and treatment of RSV infections [RSV'nin yaptigi hastaliklar; tani ve tedavisi]

The most common form of RSV infections in lower respiratory tract is pneumonia and then bronchiolitis. Children under 1 years are more susceptible for RSV infections. Clinical symptoms are atypical under 3 weeks of age and symptoms of upper respiratory tract, lethargy, irritability and feeding intolerance are predominant. After 2-8 days of incubation period, symptoms of upper respiratory tract infection develop in susceptible cases. Diagnosis of RSV infection is difficult, due to similar symptoms caused by some other viruses. Main important point in sick infants is supportive treatment

Plexiform Neurofibroma With Activating KRAS Mutation and Segmental Presentation Involving the Unilateral Eyelid.

Plexiform neurofibromas are classically thought to be pathognomonic for neurofibromatosis type 1. However, isolated forms may occur, particularly as a manifestation of segmental neurofibromatosis related to postzygotic mosaicism in the NF1 gene. Most cases occur on the head and neck, trunk, and extremities with very few cases reported in the periorbital area. The authors report a case of plexiform neurofibroma with perineuriomatous features of the right upper eyelid in a patient with no other stigmata of neurofibromatosis. While suggestive of segmental neurofibromatosis, genetic analysis revealed activating KRAS mutation and inactivating mutation in PHF6 with no evidence of NF1 mutation in germline or tumor tissue. Neither KRAS nor PHF6 have been previously reported in association with neurofibroma

Nesidioblastosis in a Simmental Calf

A 2-day-old Simmental calf with arthrogryposis and astasia was subjected to necropsy examination. The calf was normoglycaemic and normoinsulinaemic. Microscopically, pancreatic tissue was hyperplastic with an irregular lobular arrangement of pancreatic islets. Newly-formed islet cells budded from intralobular or inter-calated ducts (so-called ductulo-insular complexes) and there were prominent blood vessels with telangiectatic features surrounded by rows of cuboidal-columnar islet cells. The newly-formed islets expressed insulin antigen immunohistochemically. The lesion was diagnosed as nesidioblastosis, an uncommon abnormality previously associated with the double muscling trait in cattle. (c) 2012 Elsevier Ltd. All rights reserved