Control Series Research Articles

Effects of mental training practice in Alpine skiers through imagery and NLP techniques

The pupose of the study is to determine the effects of applying mental training techniques in alpine skiers aged 12 ± 6 and19± 2. It is to determine whether by applying mental training techniques certain psychological factors able to influence performance optimization in alpine skiing can be modified. The experimental series comprised 20 skiers, from the clubs CSS Gheorgheni (HR), CSS Baia – Sprie (MM), and FEFS students. The control series comprising 20 skiers, from the clubs CSM Gheorgheni (HR), CSS Sibiu (SB), CS Corona Brasov (BV), CSS Sinaia (PH), CSS Petroșani (HD), CSS Toplița (HR), CS MiercureaCiuc (CV), Crazy – Byke (SB). Psychological tests for attention (MA- focused, AP2 – perceptual attention, AD – distributed),EMAS S – state of anxiety, PDE – emotional distress were used as data collection tools and The Jacobson S., Bandler R.&Thomson G tests were used. We used SPSS for statistical analysis. Findings reveal that by using mental training techniques through imagery and NLP techniques, we managed to improve performance on the level of visual, auditory and kinaesthetic acuity, as well as the level of perceptual attention (AP2). Findings show that the application of mental training techniquesleads to lower anxiety issues (EMAS) and emotional distress (PDE) in skiers’ behaviour. Performance in alpine skiers can be improved by increasing perceptual attention, following the stimulation of visual, auditory, and kinaesthetic channel in alpine skiers.Keywords: Mental training, Alpine skiing, training, imagery, neuro-linguistic programming, sport performance.

Effects of mental training practice in Alpine skiers through imagery and NLP techniques

The pupose of the study is to determine the effects of applying mental training techniques in alpine skiers aged 12 ± 6 and19± 2. It is to determine whether by applying mental training techniques certain psychological factors able to influence performance optimization in alpine skiing can be modified. The experimental series comprised 20 skiers, from the clubs CSS Gheorgheni (HR), CSS Baia – Sprie (MM), and FEFS students. The control series comprising 20 skiers, from the clubs CSM Gheorgheni (HR), CSS Sibiu (SB), CS Corona Brasov (BV), CSS Sinaia (PH), CSS Petroșani (HD), CSS Toplița (HR), CS MiercureaCiuc (CV), Crazy – Byke (SB). Psychological tests for attention (MA- focused, AP2 – perceptual attention, AD – distributed),EMAS S – state of anxiety, PDE – emotional distress were used as data collection tools and The Jacobson S., Bandler R.&Thomson G tests were used. We used SPSS for statistical analysis. Findings reveal that by using mental training techniques through imagery and NLP techniques, we managed to improve performance on the level of visual, auditory and kinaesthetic acuity, as well as the level of perceptual attention (AP2). Findings show that the application of mental training techniquesleads to lower anxiety issues (EMAS) and emotional distress (PDE) in skiers’ behaviour. Performance in alpine skiers can be improved by increasing perceptual attention, following the stimulation of visual, auditory, and kinaesthetic channel in alpine skiers.Keywords: Mental training, Alpine skiing, training, imagery, neuro-linguistic programming, sport performance.

A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of HCM patients in Egypt

BackgroundNGS enables simultaneous sequencing of large numbers of associated genes in genetic heterogeneous disorders, in a more rapid and cost-effective manner than traditional technologies. However there have been limited direct comparisons between NGS and more established technologies to assess the sensitivity and false negative rates of this new approach. The scope of the present manuscript is to compare variants detected in MYBPC3, MYH7 and TNNT2 genes using the stepwise dHPLC/Sanger versus targeted NGS. MethodsIn this study, we have analysed a group of 150 samples of patients from the Bibliotheca Alexandrina-Aswan Heart Centre National HCM program. The genetic testing was simultaneously undertaken by high throughput denaturing high-performance liquid chromatography (dHPLC) followed by Sanger based sequencing and targeted next generation deep sequencing using panel of inherited cardiac genes (ICC). The panel included over 100 genes including the 3 sarcomeric genes. Analysis of the sequencing data of the 3 genes was undertaken in a double blinded strategy. ResultsNGS analysis detected all pathogenic and likely pathogenic variants identified by dHPLC (50 in total, some samples had double hits). There was a 0% false negative rate for NGS based analysis. Nineteen variants were missed by dHPLC and detected by NGS, thus increasing the diagnostic yield in this co- analysed cohort from 22.0% (33/150) to 31.3% (47/150).Of interest to note that the mutation spectrum in this Egyptian HCM population revealed a high rate of homozygosity in MYBPC3 and MYH7 genes in comparison to other population studies (6/150, 4%). None of the homozygous samples were detected by dHPLC analysis. ConclusionNGS provides a useful and rapid tool to allow panoramic screening of several genes simultaneously with a high sensitivity rate amongst genes of known etiologic role allowing high throughput analysis of HCM patients and relevant control series in a less characterised population.

Prognostic impact of HER-2 Subclonal Amplification in breast cancer.

The presence of a limited number of cells with HER-2 amplification (Subclonal Amplification) in breast carcinomas is occasionally encountered, but its prognostic impact is poorly known. The purpose of this study is to evaluate the prognostic impact of HER-2 Subclonal Amplification in a retrospective series of breast cancers. Accordingly, 81 consecutive breast carcinomas showing HER-2 Subclonal Amplification were obtained from the histology files (case series). These cases were subdivided into two groups: (a) those cases in which the HER-2 Subclonal Amplification was consonant to the accepted criteria for amplification, showing clusters of amplified cells, and (b) those cases with rare HER-2 Subclonal Amplification that did not reflect the accepted criteria for amplification, showing scattered amplified cells only. The incidence of metastases and late recurrences of the case series was compared with a series composed of 109 consecutive cases, being HER-2 homogeneous (comprising 14 Amplified and 95 Non-Amplified cases), matched for grade and stage (control series). It appeared that cases showing Subclonal Amplification had an incidence of metastases intermediate between the cases Amplified and Non-Amplified. Specifically, Subclonal Amplification with clustered cells had a lower incidence of metastases than Amplified cases (12.9 versus 21.4%). On the contrary, Subclonal Amplification with scattered cells showed an incidence of metastases higher than Non-Amplified cases (14 versus 9.47%). In addition, patients Subclonal Amplification with clustered cells, who were treated with the specific monoclonal antibody, had a lower incidence of metastases than patients showing Subclonal Amplification with scattered cells, who did not receive target therapy. These data, together with those recently published, indicate that Subclonal Amplification has an impact on prognosis and should be taken into consideration to correctly plan the treatment of breast cancer patients.

Association between human herpesvirus infections and dementia or mild cognitive impairment: a systematic review protocol

IntroductionPersisting neurotropic viruses are proposed to increase the risk of dementia, but evidence of association from robust, adequately powered population studies is lacking. This is essential to inform clinical trials...

The association between human herpesvirus infections and stroke: a systematic review protocol

IntroductionAfter primary infection, human herpesviruses establish latency and persist lifelong. Periodic virus reactivation can lead to serious inflammatory complications. Recent research suggests that herpesvirus reactivation may also be linked to...

FEATURES OF THIOTRIAZOLINE CORRECTION OF MORPHOLOGICAL CHANGES IN THE PROSTATE AND SEMINAL VESICLES OF RATS CAUSED BY EXPOSURE TO TOLUENE VAPOR

The use of tiotriazoline as a corrector of morphological changes in the prostate and seminal vesicles caused by exposure to toluene vapor, leads to a decrease in the difference between the parameters of the control and experimental series, which leads to an early restoration of the structures of the organs in the period of readaptation.

Effect of recycled aggregate on physical-mechanical properties and durability of vibro-compacted dry-mixed concrete hollow blocks

This paper deals with the feasibility of using fine and coarse recycled aggregates, both from concrete and mixed sources, as technological nutrients for the production of vibro-compacted dry-mixed concrete hollow blocks traditionally used in wall construction. Five series of blocks were prepared with different combinations of concrete and recycled aggregates and a reference one to be used as a control series. The results shows that the incorporation of recycled aggregates does not compromise compliance with the European standard EN 771-3, nor further durability requirements by means of hazardous ambient such as freeze-thawing and salts crystallization and the value declared by the manufacturer.

Infection and failure rates following total hip arthroplasty for septic arthritis: a case-controlled study.

Total hip arthroplasty (THA) is performed as a 2-stage or single stage procedure in patients with a history of septic arthritis of the native hip joint. The decision is based on whether the infection is active or quiescent in the joint. The aim of this study was to compare the outcomes of total hip arthroplasty for septic arthritis of the native hip to a control series of patients treated for primary osteoarthritis of the hip with standard THA. Between March 2000 and March 2013, 18 cases of septic arthritis of the hip treated with THA were retrospectively identified. During the same time period, 18 control cases of THA for degenerative osteoarthritis were identified. Cases and controls were comparable in age, gender, body mass index, type of anaesthesia and American Society of Anesthesiologists score. 11 and 7 cases received 2-stage and single stage total hip arthroplasty respectively for septic arthritis. There was a mean interval of 4 months between 1st and 2nd-stage operations. Cases and controls were followed up for a mean of 70 and 72 months respectively. There was no reinfection or implant failure in the cases, and comparable functional outcomes between cases and controls. Two-stage and single-stage THA for active and quiescent native hip infection respectively, achieved similar outcomes to THA for primary osteoarthritis in controls.

Patterns and trends in quality of response rate reporting in case-control studies of cancer

Purpose: We assessed the quality of reporting of response rates in published case-control studies of cancer over the past fourdecades.Methods: We reviewed all case-control studies of cancer published in twelve major epidemiology, public health, and generalmedicine journals in four publication periods (1984-86, 1995, 2005, and 2013). Information on study base ascertainment, datacollection methods, population characteristics, response rates, and reasons for non-participation was extracted. Quality of responserate reporting was assessed based on the amount of pertinent information reported, and in particular, numbers of non-participantsby reasons for non-participation. We calculated subject response rates by quality of response rate reporting.Results: A total of 370 studies met the eligibility criteria, yielding a total of 370 case series and 422 control series. Overall,the quality of reporting of response rate and reasons for non-participation was poor. There was a tendency for better quality ofreporting of case series, followed by population control series, and lastly by medical source control series. Quality of reportingdeclined from 1995 to 2013.Conclusion: The reporting of relevant information on response rates in case-control studies of cancer has been rather poor, and ithas not improved over time. This compromises our ability to assess validity of studies’ findings.

Impact of tramadol and morphine abuse on the activities of acetylcholine esterase, Na+/K+-ATPase and related parameters in cerebral cortices of male adult rats.

ObjectiveTo determine the effect of the most commonly abused drugs (tramadol and morphine), on acetylcholine esterase (AChE), Na+/K+-ATPase activities and related parameters, Na+ and K+ as biomarkers of neurotoxicity.MethodsTramadol - as a weak μ opioid receptor agonist- and morphine - as opiate analgesic drugs, were chosen for the present study. Four series of experimental animals were conducted for either tramadol or morphine: control series; repeated single equal doses (therapeutic dose) series; cumulative increasing doses series and delay (withdrawal) series (96 hours withdrawal period after last administration), at time period intervals 7, 14 and 21 days. Acetylcholine esterase (AChE), Na+/K+-ATPase activities and related parameters, Na+ and K+ were measured in cerebral cortices of experimental rats.ResultsAcetylcholine esterase (AChE) activity in the brain cerebral cortex increased after the administration of therapeutic repeated doses of either tramadol (20 mg/kg b.w.) or morphine (4 mg/kg b.w.) in different groups. The daily intraperitoneal injection of cumulative increasing dose levels of either tramadol 20, 40 and 80 mg/kg or morphine 4, 8 and 12 mg/kg revealed a significant increase in the mean of acetylcholine esterase activities. The withdrawal groups of either tramadol or morphine showed significant decreases in their levels. Na+/K+ ATPase activity in the brain cerebral cortex of either repeated therapeutic doses of tramadol (20 mg/kg) or morphine repeated therapeutic doses (4 mg/kg) for 21 consecutive days at different intervals 7, 14 and 21 days, induced a significant decrease in the levels of Na+/K+-ATPase in all groups. Withdrawal groups showed a significant decrease in Na+/K+-ATPase level. Furthermore, the daily intraperitoneal injection of cumulative increasing dose levels of either tramadol (20, 40 and 80 mg/kg b.w.) or morphine (4, 8 and 12 mg/kg b.w.) induced significant decreases in Na+/K+-ATPase levels in all studied groups. Regarding Na+ and K+, concentrations of either repeated therapeutic doses or cumulative increasing doses at different time intervals, showed different fluctuations in their levels.ConclusionThe recorded data suggest that both drugs exert potent effects on AChE and Na+/K+-ATPase activities which could contribute to cerebral cortex malfunction including, memory deficits and the decline in cognitive function observed in chronic users.

Perinatal outcome of placental massive perivillous fibrin deposition: a case-control study.

The objectives of the study are to describe the obstetric outcomes associated with massive perivillous fibrin deposition (MFD) compared with a control series and to determine if outcome differs according to the extent of fibrin deposition. Retrospective case-control study based on placentas analyzed over a consecutive 12-year period. MFD was considered severe if it extended over more than 50% of the placenta and moderate between 25% and 50%. During the study period, MFD was observed on 71 placentas, 39 severe and 32 moderate. Compared with the 142 control women, the 39 women with severe MFD more often had histories of autoimmune disease and intrauterine fetal death. The case women with MFD were associated with elevated levels of maternal alpha-fetoprotein and with a high risk of severe growth restriction and/or intrauterine death. Compared with the infants with moderate MFD, those with severe MFD had also more abnormal umbilical artery Doppler velocimetry findings and more often intrauterine deaths and lower birthweights. Regardless of their extent, MFD that covered at least 25% of the placenta was almost always accompanied by severe growth restriction and by a high risk of intrauterine fetal death. Moreover, severe MFD tend to be associated with autoimmune diseases of the mothers, and pregnancies show more often a pathologic Doppler of the umbilical arteries and more often intrauterine fetal death that the moderate form. © 2017 John Wiley & Sons, Ltd.

Can response to locoregional therapy help predict longterm survival after liver transplantation for hepatocellular carcinoma? A systematic review.

For a selected group of patients with hepatocellular carcinoma (HCC), liver transplantation (LT) represents the best chance of a cure. Organ shortages necessitate an efficient allocation of resources and careful prioritization on the transplantation waiting list. In this review, we aim to collate and evaluate the published evidence for using response to locoregional therapies (LRTs), measured by modified Response Evaluation Criteria in Solid Tumors (mRECIST), as a predictor of longterm survival after LT. Our aim was to assess whether response to LRTs before LT for HCC, as measured by the Response Evaluation Criteria in Solid Tumors (RECIST) or mRECIST criteria, can help predict recurrence-free and/or longterm survival outcomes. We searched MEDLINE, Embase, and the Cochrane database. We included randomized controlled trials (RCTs), cohort, case control, and case series studies. Poster and conference abstracts were included. Studies were required to use RECIST or mRECIST criteria when assessing tumor response and were limited to LT for HCC only. A total of 15 records were included in the final systematic review: 7 published manuscripts and 8 conference abstracts. No RCTs were identified. Several included articles were conference abstracts with limited data available. No RCTs were found, and no meta-analysis was undertaken. Several retrospective cohort studies were identified that demonstrated statistically significant differences in survival and recurrence between different RECIST criteria after LT. Liver Transplantation 23 375-385 2017 AASLD.

Is the Simplicity of the Evidence Pyramid Actually Detrimental for Understanding Evidence?

The evidence pyramid for assessing the efficacy of interventions under real world conditions has been used in various forms for many years, and to a lesser extent the pyramid has been used for assessing evidence for disease risk factors. While acknowledging minor differences, many pyramids list the following information sources for interventions in decreasing order of “validity”: systematic review and meta-analysis of randomised control trials, randomised controlled trials, cohort studies, case control studies, case series and case reports. The evidence pyramid is often used as a teaching aid to help clinicians and students visualise the concept that all studies might not have equal evidentiary value when evaluating real world efficacy.The rationale for the hierarchy of the pyramid is partially based on the potential for bias in some designs and partially based on the external validity of the information source. Designs with greater potential for bias “on average” are placed lower on the pyramid. The greater risk of bias means a greater risk that effect size estimates from studies lower on the pyramid may be systematically incorrect (overestimated or underestimated). As such, the evidence pyramid makes very broad statements about the design “on average”. Of course, for any particular study or topic, the pyramid may not be correct. Regardless, the generalisations described in the evidence pyramid have over the years been considered useful and use of the tool continues likely because of its simplicity. However, the validity of most pyramids that we have seen (and used ourselves, and published ourselves) is predicated on two potentially false concepts. The first potentially false concept conveyed by most evidence pyramids, is that there is only one case-control design and it is of lesser evidentiary value than cohort studies. The second potentially false concept conveyed by evidence pyramids is that the terms cohort, case control, and case series can be used to “filter” out studies of lower evidentiary value.In this presentation Annette discusses the validity of the evidence pyramid on the interpretation of evidence from primary research. She proposes a new way to think about evidence from primary studies using the framework for classifying epidemiologic studies proposed by Pearce (2012) based on incident and prevalent cases. This would also result in a rethinking of the current evidence pyramid.

The magnitude of elevated maternal serum human chorionic gonadotropin and pregnancy complications

This study assessed the correlation between the magnitude of the elevation in maternal serum human chorionic gonadotropin (MShCG) levels and pregnancy complications. Among 80,716 screened pregnancies, 120 with moderately elevated MShCG (3.00–5.99 MoM) were compared to 84 with extremely elevated MShCG >6.00 MoM. A control series of 120 women with normal MShCG (<3.00 MoM) were matched. Rates of intrauterine growth restriction, preterm labour, antepartum foetal death (APFD), pre-eclampsia, and placental abruption were analysed. We found that the study group had more adverse outcomes than the control group (73/204 [36%] vs. 18/120 [15%]; p < .0001). The rate was higher in the extremely elevated group than in the moderately elevated group (43/84 [51%] vs. 30/120 [25%]; p < .0001). All 12 cases of APFD (14%) occurred among the extremely elevated series. In conclusion, adverse pregnancy outcomes are more common in women with extremely elevated MShCG. The patients should receive counselling regarding this trend and undergo close pregnancy monitoring.Impact statement• What is already known on this subject?In addition to its contribution to Down syndrome (DS) screening, maternal serum human chorionic gonadotropin (MShCG) levels are a marker for pregnancy complications such as intrauterine growth restriction (IUGR), preterm labour (PTL), antepartum fatal death (APFD), pre-eclampsia (PE), placental abruption (PA) and fetal malformations with or without chromosomal aberrations.• What the results of this study add?We found that in the presence of elevated MShCG levels, the incidence of IUGR and PTL increased. PE increased clinically, but statistical significance was seen only when MShCG was extremely elevated (≥ 6.00 MoM). APFD and PA were associated with very high MShCG levels only.• What the implications are of these findings for clinical practice and/or further research?Women with high MShCG levels should be counselled. In case of very high levels (≥ 6.00 MoM), the risk of APFD and PA should be discussed. The pregnancy should be monitored for IUGR, PTL and PE. In view of the limited number of enrolled patients with very high levels of MShCG, the experience of other institutions is needed to corroborate these findings.

P459 Obesity in patients with an ileoanal pouch due to ulcerative colitis is not associated with an increased risk for pouchitis

Background: Obesity is characterized by low grade inflammation in the visceral fat tissue (VFT) which may be a major causative factor in the development of insulin resistance (IR). A surrogate marker for IR is the ratio between triglycerides (TG) and high density lipoprotein (HDL). VFT wrapping the small bowel characterizes Crohn's disease (CD) and has been shown to produce proinflammatory cytokines. Patients with ulcerative colitis (UC) undergoing proctocolectomy with ileal pouch-anal anastomosis (IPAA) commonly develop pouchitis-de novo inflammation in a previously normal small bowel. We hypothesize that pouchitis may represent the small intestinal inflammation characterizing CD. We aimed to assess whether obesity affected intestinal inflammation in obese UC-pouch patients. Methods: Retrospective case control series in UC pouch patients recruited at a tertiary referral center. Clinical and biochemical indices were compared between obese (BMI≥30 kg/m2) and normal BMI (nBMI, 18.5–24.9 kg/m2) pouch patients, matched for age and gender. Nutritional trends were obtained from food frequency questionnaires (FFQs). Results: Thirty one patients (8.6% of pouch patients in our cohort, 20 females) were obese with a mean BMI of 33.9±4.5 kg/m2, pouch patients with nBMI - 22.9±2.6 kg/m2. Groups were comparable for smoking, disease duration, indication for surgery and pouch age. However, significantly lower rates of pouchitis were detected in the obese compared to nBMI group, 41% vs 79% (p=0.028) respectively. Obese patients had significant metabolic abnormalities: Glucose 103.5±39.9 vs. 83.8±10.7 mg/dl (p=0.028); HDL 47.9±14.2 vs 63.9±17.08 mg/dl (p=0.003); TG 190.33±124.8 vs 118.7±58.76 mg/dl (p=0.015), respectively. TG/HDL ratio was higher in the obese group 4.4±3.4 vs 2.1±1.4 (p=0.006 vs. nBMI). Sugared beverages consumption was significantly higher in the obese group (p<0.01 vs. nBMI). Conclusions: Pouchitis rates were surprisingly lower in obese UC-pouch compared to nBMI UC pouch patients. This may be due to dietary intake restriction in patients with pouchitis, potentially contributing to lower weight so obesity may prevail mainly in patients with a normal pouch, eating freely. An alternative explanation may be that in pouchitis metabolic expenditure is increased contributing to lower BMI. Obese UC-pouch patients are prone to metabolic abnormalities and IR. A high consumption of simple carbohydrates may impact TG levels and weight gain in these patients. Dietary treatment for IBD patients should target all nutritional aspects including metabolic abnormalities to improve health status and quality of life.

Bedside sonography for the diagnosis of esophageal food impaction

BackgroundEsophageal foreign body (EFB) and impaction are common gastrointestinal emergencies. Detection with standard imaging can be challenging. Computed tomography is a commonly used non-invasive imaging modality, but is not 100% sensitive and not always feasible. Sensitivity of plain film x-ray varies widely and the addition of a barium swallow can obscure evaluation by subsequent esophagogastroduodenoscopy (EGD). Use of emergency ultrasound (EUS) for detection of EFB in adults has not been previously studied. ObjectiveTo evaluate the role of EUS in detection of EFB and to characterize sonographic findings. MethodsA case control series of five patients with clinical suspicion of EFB underwent EUS, and findings were compared to five healthy controls. Patients were evaluated for persistent air-fluid levels after swallowing, esophageal dilatation, and visualization of EFB. Results: All patients with suspected EFB had esophageal dilatation (17.5mm vs 9.3mm in healthy controls; p=0.0011) and persistent air-fluid levels after swallowing. EFB was visualized on EUS in 60% of patients. All patients had EFB confirmed on EGD except one, who vomited a significant food bolus during EUS and prior to EGD. ConclusionIn patients with suspected EFB, point-of-care ultrasound may identify those with impaction. Suggestive findings include cervical esophageal dilatation and persistent intraluminal air-fluid levels after swallowing. EUS is a rapid, convenient test with the potential to expedite definitive management while decreasing cost and radiation exposure in this patient population.

CHARACTERISTICS OF BONE TISSUE REGENERATION IN THE VERTEBRAL BODIES IN THE EXPERIMENT WITH OSTEOGRAFT

Aim. To assess osteogenic potentialities of a three-di- components, enzymes and vessels with endothelial lining. mensional osteograft in a mini pig model with artificial Structural composition of the osteograft is an analogue of vertebral body defect. The osteograft consists of osteo- embryonic bone tissue, which was the basis for examining the regenerative potentialities of the osteograft in the ex-periment. Methods. The osteograft was implanted in the defect of the lumbar vertebral body of minipig (6 months old). The animals were withdrawn from the experiment in the period from 14 days to 6 months. In the control series, autobone was implanted in a similar defect. The preparations were examined by morphological methods, and bone tissue density was assessed by MSCT. Results. Regeneration and integration of the bone tissue of the vertebral body with the defect replaced by the osteograft was by primary angiogenic osteogene sis within one month due to the structural components of the osteograft. When the defect is replaced by autograft, the regeneration and integration of the bone tissue of the vertebral body occur within six months due to the structural components of the recipient. Conclusion. Formation of the common blood flow of the transplant and recipient vessels is both a factor of integration of the transplant into the homeostatic system of the recipient, and a pathogenic mechanism for optimizing the regeneration of bone tissue defect on the basis of the graft.

Do salivary bypass tubes lower the incidence of pharyngocutaneous fistula following total laryngectomy? A retrospective analysis of predictive factors using multivariate analysis

Salivary bypass tubes (SBT) are increasingly used to prevent pharyngocutaneous fistula (PCF) following laryngectomy and pharyngolaryngectomy. There is minimal evidence as to their efficacy and literature is limited. The aim of the study was to determine if SBT prevent PCF. The study was a multicentre retrospective case control series (level of evidence 3b). Patients who underwent laryngectomy or pharyngolaryngectomy for cancer or following cancer treatment between 2011 and 2014 were included in the study. The primary outcome was development of a PCF. Other variables recorded were age, sex, prior radiotherapy or chemoradiotherapy, prior tracheostomy, type of procedure, concurrent neck dissection, use of flap reconstruction, use of prophylactic antibiotics, the suture material used for the anastomosis, tumour T stage, histological margins, day one post-operative haemoglobin and whether a salivary bypass tube was used. Univariate and multivariate analysis were performed. A total of 199 patients were included and 24 received salivary bypass tubes. Fistula rates were 8.3% in the SBT group (2/24) and 24.6% in the control group (43/175). This was not statistically significant on univariate (p value 0.115) or multivariate analysis (p value 0.076). In addition, no other co-variables were found to be significant. No group has proven a benefit of salivary bypass tubes on multivariate analysis. The study was limited by a small case group, variations in tube duration and subjects given a tube may have been identified as high risk of fistula. Further prospective studies are warranted prior to recommendation of salivary bypass tubes following laryngectomy.

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis–(ALS) and frontotemporal dementia–(FTD) associated genes, CHCHD10 and TUBA4A, were performed in a Belgian cohort of 459 FTD, 28 FTD-ALS, and 429 ALS patients. In CHCHD10, we identified a novel nonsense mutation (p.Gln108*) in a patient with atypical clinical FTD and pathology-confirmed Parkinson's disease (1/459, 0.22%) leading to loss of transcript. We further observed 3 previously described missense variants (p.Pro34Ser, p.Pro80Leu, and p.Pro96Thr) that were also present in the matched control series. In TUBA4A, we detected a novel frameshift mutation (p.Arg64Glyfs*90) leading to a truncated protein in 1 FTD patient (1/459 of 0.22%) with family history of Parkinson's disease and cognitive impairment, and a novel missense mutation (p.Thr381Met) in 2 sibs with familial ALS and memory problems (1 index patient/429, 0.23%) in whom we previously identified a pathogenic Chromosome 9 open reading frame 72 repeat expansion mutation. The present study confirms the role of CHCHD10 and TUBA4A in the FTD-ALS spectrum, although genetic variations in these 2 genes are extremely rare in the Belgian population and often associated with symptomatology of related neurodegenerative diseases including Parkinson's disease and Alzheimer's disease.