Intestinal helminths of the white stork (Ciconia ciconia Linnaeus 1758) from an inter-route site in Turkey

In Turkey, a study was conducted during the years 2009–2015 to detect the gastrointestinal helminth species of 18 white storks (Ciconia ciconia Linnaeus, 1758 (Aves: Ciconiiformes) sampled from aquatic or swamp areas of Bursa Province, one of the inter-route sites where storks intensely stay. The results of postmortem examination revealed that 17 (94.44%) white storks harboured one or more helminth species. Eight species of helminths were detected at the following prevalence rates: Dictymetra discoidea (38.88%), Chaunocephalus ferox (37.50%), Schistocephalus solidus (27.77%), Stephanoprora (Monilifer) spinulosa (18.75%), Echinoparyphium sp. (12.50%), Tylodelphys excavata (6.25%), T. clavata (6.25%), and Syncuaria ciconiae (6.25%). This study is the first report on the presence of all the above species except T. excavata from white storks in Turkey. Stephanoprora (M.) spinulosa was found in Ciconiiform birds for the first time in this study

Detection of Novel NF1 Variants with Next-Generation DNA Sequencing Technology and Genotype-Phenotype Characteristics of Neurofibromatosis

MakaleWOS:000925992500001Objective: Neurofibromatosis type 1 (NF1, #162200) is a common neurological disorder with de novo or inherited germline mutations of the Neurofibromin (NF1, *613113). The purpose of this study is to increase the limited knowledge of NF1 in a small population-based dataset. Materials and Methods: This study enrolled patients with clinically suspected NF1 referred to the Kayseri Training and Research Hospital, Medical Genetics Department, between 2015 and 2017. The local ethics committee approved this study. Next-generation sequencing was performed for the genetic analysis. The genetic, demographic, and clinical features of the participants were characterized. Results: A total of 79 cases of NF1 were included. Of these cases, 40 were male, and 39 were female. The mean age was 11.9 years, and most were younger than 18 years. The most common complaint was cafe au lait macules. The 61 (77.3%) patients had pathogenic variants, and 16 (26.2%) were novel. Mostly affected mutation sites were exonic regions (n=54, 88.5%). The most common mutated exon was exon 38 (n=7, 11.5%), and most of the detected mutations were nonsense mutations (31%). Conclusion: It is one of Turkiye's largest NF1 study groups, where all exons of the NF1 gene were analyzed. This study contributes novel variants to the literature. There was no mutational hotspot region, and no significant relationship between genotype and phenotype was observed. Further studies and large sample sizes are required to better understand the relationship between NF and genetic changes

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein is crucial for the modulation of membrane trafficking. To enable future clinical trials, we performed a detailed review of the published cases with MTMR2 mutations and describe four novel cases identified through whole-exome sequencing (WES). The four unrelated families harbor novel homozygous mutations in MTMR2 (NM_016156, Family 1: c.1490dupC; p.Phe498IlefsTer2; Family 2: c.1479+1G>A; Family 3: c.1090C>T; p.Arg364Ter; Family 4: c.883C>T; p.Arg295Ter) and present with CMT4B1-related severe early-onset motor and sensory neuropathy, generalized muscle atrophy, facial and bulbar weakness, and pes cavus deformity. The clinical description of the new mutations reported here overlap with previously reported CMT4B1 phenotypes caused by mutations in the phosphatase domain of MTMR2, suggesting that nonsense MTMR2 mutations, which are predicted to result in loss or disruption of the phosphatase domain, are associated with a severe phenotype and loss of independent ambulation by the early twenties. Whereas the few reported missense mutations and also those truncating mutations occurring at the C-terminus after the phosphatase domain cause a rather mild phenotype and patients were still ambulatory above the age 30 years. Charcot-Marie-Tooth neuropathy and Centronuclear Myopathy causing mutations have been shown to occur in proteins involved in membrane remodeling and trafficking pathway mediated by phosphoinositides. Earlier studies have showing the rescue of MTM1 myopathy by MTMR2 overexpression, emphasize the importance of maintaining the phosphoinositides equilibrium and highlight a potential compensatory mechanism amongst members of this pathway. This proved that the regulation of expression of these proteins involved in the membrane remodeling pathway may compensate each other's loss- or gain-of-function mutations by restoring the phosphoinositides equilibrium. This provides a potential therapeutic strategy for neuromuscular diseases resulting from mutations in the membrane remodeling pathway

Impact of opioid-free analgesia on pain severity and patient satisfaction after discharge from surgery: multispecialty, prospective cohort study in 25 countries

Background: Balancing opioid stewardship and the need for adequate analgesia following discharge after surgery is challenging. This study aimed to compare the outcomes for patients discharged with opioid versus opioid-free analgesia after common surgical procedures.Methods: This international, multicentre, prospective cohort study collected data from patients undergoing common acute and elective general surgical, urological, gynaecological, and orthopaedic procedures. The primary outcomes were patient-reported time in severe pain measured on a numerical analogue scale from 0 to 100% and patient-reported satisfaction with pain relief during the first week following discharge. Data were collected by in-hospital chart review and patient telephone interview 1 week after discharge.Results: The study recruited 4273 patients from 144 centres in 25 countries; 1311 patients (30.7%) were prescribed opioid analgesia at discharge. Patients reported being in severe pain for 10 (i.q.r. 1-30)% of the first week after discharge and rated satisfaction with analgesia as 90 (i.q.r. 80-100) of 100. After adjustment for confounders, opioid analgesia on discharge was independently associated with increased pain severity (risk ratio 1.52, 95% c.i. 1.31 to 1.76; P < 0.001) and re-presentation to healthcare providers owing to side-effects of medication (OR 2.38, 95% c.i. 1.36 to 4.17; P = 0.004), but not with satisfaction with analgesia (beta coefficient 0.92, 95% c.i. -1.52 to 3.36; P = 0.468) compared with opioid-free analgesia. Although opioid prescribing varied greatly between high-income and low- and middle-income countries, patient-reported outcomes did not.Conclusion: Opioid analgesia prescription on surgical discharge is associated with a higher risk of re-presentation owing to side-effects of medication and increased patient-reported pain, but not with changes in patient-reported satisfaction. Opioid-free discharge analgesia should be adopted routinely

Comparison of mediastinal lymph node involvement with "p53 gene mutation method" and "histopathological method" in patients with bronchial cancer

Küçük Hücre Dışı Akciğer Kanseri (KHDAK)'nde tedavi metodunu ve prognozu belirleyen en önemli faktör hastalığın evresidir. Erken evre tümörlerde (Evre la ve Ib) yapılan küratif rezeksiyona rağmen 5-yıllık yaşam beklentisi hiçbir zaman mükemmel rakamlara (%55-85) ulaşamamıştır. Bölgesel lenf bezi metastazı bulunmayan "NO" olgularda lokal nüks ve/veya uzak metastazlara rastlanması ve beklenenden daha az 5-yıllık yaşam değerleri elde edilmesi patolojik "NO" evresinin sorgulanmasını gerektirmiştir. Günümüzde; mediastinoskopi ile mediastinal lenf bezi metastazı bulunan "N2" olgularda en ideal yaklaşım neo-adjuvant kemoterapi sonrası cerrahi rezeksiyondur. Bu çalışmadaki amaç mediastinoskopi sonrası histopatolojik "NO" değerlendirilen lenf bezlerindeki p53 genindeki mutasyon pozitifliğinin değerlendirilmesi ile gerçek "NO" evrelenmesinin karşılaştırılmasıdır. Ocak 2001-Ocak 2002 tarihleri arasında primer KHDAK'nin preoperatif evrelendirilmesinde toraks bilgisayarlı tomografisinde 1cm.' den daha küçük mediastinal lenf bezi bulunan ve servikal mediastinoskopi uygulanan olgulardan 30'u çalışmaya dahil edildi. Standart servikal mediastinoskopi tekniği ile alınan aynı lenf bezine ait biyopsi materyali taze olarak eşit iki parçaya ayrıldı. Biopsi materyali histopatolojik ve genetik inceleme için gerekli bölümlere gönderildi. Patolojide hazırlanan biopsi örnekleri Hematoxilene-Eosin (HE) ile boyandı diğer örnek ise Polimeraz Zincir Reaksiyonu (PZR) yöntemi ile p53 gen mutasyonu tespiti için hazırlandı. Çalışmaya alınan 30 olgunun 29'u (%97) erkek ve yaş ortalaması 61.2 (42-74) idi. Olguların tamamından alınan lenf bezlerinin histopatolojik incelemesi sonucunda metastaza rastlanmadı. Fakat bu olgulardan 6(%20),sının lenf bezlerinin PZR yöntemi ile moleküler biyolojik incelemesi sonucunda p53 gen mutasyonu tespit edildi (Genetik Metastaz). Sonuç olarak; histopatolojik inceleme sonrası "NO" olarak bildirilen fakat p53 mutasyonu bulunan olgularda lokal nüks ve/veya uzak metastaz dikkatli takip edilmelidir. Bu hastalarda histopatolojik negatifliğe rağmen neo-adjuvan veya adjuvan tedavi rejimlerinin uygulanması gündeme gelmelidir.In non-small cell lung cancer (NSCLC), the most significant factor that effects treatment modality and prolonged survival is the stage of the disease. Despite to curative resection in early stage NSCLC (stage-la andl b), the long term survival has never reached to the ideal figures (range 55-85%). Local recurrence and/or distant metastases are seen in patients with pathologically proven NO disease that leads to the questioning of the real "NO" results. Furthermore, neo-adjuvant chemotherapy followed by surgery is an ideal treatment in patients with mediastinal lymph node involvement (N2). The aim of this study was to compare pathologically proven NO lymph nodes obtained during mediastinoscopy with p53 gene mutation. Thirty patients undergoing mediastinoscopy for the staging of NSCLC were prospectively included in the study. Only the patients with mediastinallymph nodes less than 1cm. in diameter were selected for mediastinoscopy. Standard cervical mediastinoscopy was performed in all patients and the specimens obtained during the procedure were divided into two pieces for histopathologic and biologic investigation. Hematoxilene-Eosine(HE) staining was used for histopathologic screening. The Polymerase Chain Reaction (PCR) method was used for the detection of p53 gene mutation for the other group. All but one patients were male with a mean age of 61.2(range 42-74). Althoug there was no metastasis in the histopathology group, six (20%) p53 gene mutation were detected with a PCR method. In conclusion; local recurrence and/or distant metastasis must be carefully followed in patients with pathologically "NO" disease and p53 gene mutation. Neo-adjuvant and/or adjuvant therapies may be considered in such a group of patients

Özefagusun Parabronşiyal Divertikülü: Vaka Sunumu

WOS: 000376565500040Parabronşiyal ya da midözefagiyal divertiküller, özefagusun orta kesiminin periözefagiyal alana doğru kese şeklinde büyümesi sonucu ortaya çıkar. Bu büyüme genellikle mediastinel inflamasyona sekonder olarak oluşur. Biz, midözefagiyal divertikülü olan yirmibir yaşında erkek hastayı sunuyoruz. Literatür bilgileri eşliğinde bu özefagiyal patolojiyi tartışmayı amaçladık.Parabronchial or midesophageal diverticulum is a saclike bulging of the midesophageal wall into the periesophageal space. This bulging usually occur secondary to mediastinal inflammation. We report a case of a midesophageal diverticulum in a 21-year-old man. We discuss midesophageal diverticulum and review the literature findings

Thymic tumors and results of radiotherapy

AimThe aim of this study was to evaluate thymic epithelial tumors (TETs) for treatment outcomes and prognostic factors on survival.BackgroundTETs are very rare neoplasms and multidisciplinary approach is recommended according to prognostic factors.Materials and methodsBetween 1995 and 2013, 31 patients were treated with median 5400[[ce:hsp sp="0.25"/]]cGy (range: 1620–6596[[ce:hsp sp="0.25"/]]cGy) radiotherapy (RT). Eleven patients received adjuvant or concurrent chemotherapy. There were 25 thymomas, 4 thymic carcinomas and 2 thymic neuroendocrin carcinomas. According to Masaoka, staging and WHO classification, cases were divided to good (n: 10), moderate (n: 9) and poor (n: 12) prognostic risk groups. Survival was calculated from diagnosis.ResultsIn January 2016, 22 cases were alive with median 51.5 months (range: 2–170.5) follow-up. Recurrences were observed in 29% of patients in median 29.5 months (range: 6.5–105). Local control, mean overall (OS) and disease-free survival (DFS) rates were 86%, 119 and 116 months, respectively. There was a significant difference for R0 vs. R+ resection (81% vs. 43%, p[[ce:hsp sp="0.25"/]]=[[ce:hsp sp="0.25"/]]0.06, and 69% vs. 46%, p[[ce:hsp sp="0.25"/]]=[[ce:hsp sp="0.25"/]]0.05), Masaoka stage I–II vs. III–IV (75% vs. 52%, p[[ce:hsp sp="0.25"/]]=[[ce:hsp sp="0.25"/]]0.001, and 75% vs. 37%, p[[ce:hsp sp="0.25"/]

Application of Rigid Broncoscopy with Heated Serum Physiologic

Rigid bronchoscopy (RB) is a procedure commonly performed thoracic surgery is quite routine. The main application areas of bronchoscopy; foreign body aspiration, atelectasis, control of hemoptysis and diagnostic procedures. In bronchoscopy, cold Serum Physiologic (SP) is used for irrigation. In this article, we present a case used warm SP in order to open an atelectasis during broncoscopy that have never been used in the literature