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1.
Gelareh Sadigh Richard DuszakJr. Kevin C. Ward Renjian Jiang Jeffrey M. Switchenko Kimberly E. Applegate Ruth C. Carlos 《Journal of general internal medicine》2018,33(3):284-290
Background
Screening tests are generally not recommended in patients with advanced cancer and limited life expectancy. Nonetheless, screening mammography still occurs and may lead to follow-up testing.Objective
We assessed the frequency of downstream breast imaging following screening mammography in patients with advanced colorectal or lung cancer.Design
Population-based study.Participants
The study included continuously enrolled female fee-for-service Medicare beneficiaries ≥65 years of age with advanced colorectal (stage IV) or lung (stage IIIB-IV) cancer reported to a Surveillance, Epidemiology, and End Results (SEER) registry between 2000 and 2011.Main Measures
We assessed the utilization of diagnostic mammography, breast ultrasound, and breast MRI following screening mammography. Logistic regression models were used to explore independent predictors of utilization of downstream tests while controlling for cancer type and patient sociodemographic and regional characteristics.Key Results
Among 34,127 women with advanced cancer (23% colorectal; 77% lung cancer; mean age at diagnosis 75 years), 9% (n = 3159) underwent a total of 5750 screening mammograms. Of these, 11% (n = 639) resulted in at least one subsequent diagnostic breast imaging examination within 9 months. Diagnostic mammography was most common (9%; n = 532), followed by ultrasound (6%; n = 334) and MRI (0.2%; n = 14). Diagnostic mammography rates were higher in whites than African Americans (OR, 1.6; p <0.05). Higher ultrasound utilization was associated with more favorable economic status (OR, 1.8; p <0.05).Conclusions
Among women with advanced colorectal and lung cancer, 9% continued screening mammography, and 11% of these screening studies led to at least one additional downstream test, resulting in costs with little likelihood of meaningful benefit.2.
Background
Intestinal Behçet’s disease (BD) can cause acute lower gastrointestinal bleeding, which is sometimes fatal.Aim
We aimed to identify the risk factors and outcomes of acute lower gastrointestinal bleeding and factors associated with rebleeding in intestinal BD patients.Methods
Of the total of 588 intestinal BD patients, we retrospectively reviewed the medical records of 66 (11.2%) patients with acute lower gastrointestinal bleeding and compared them with those of 132 matched patients without bleeding.Results
The baseline characteristics were comparable between the bleeding group (n = 66) and the non-bleeding group (n = 132). On multivariate analysis, the independent factors significantly associated with lower gastrointestinal bleeding were older age (>52 years) (hazard ratio [HR] 2.2, 95% confidence interval [CI] 1.058–4.684, p = 0.035) and a nodular ulcer margin (HR 7.1, 95% CI 2.084–24.189, p = 0.002). Rebleeding occurred in 23 patients (34.8%). Female patients (p = 0.044) and those with previous use of corticosteroids or azathioprine (p = 0.034) were more likely to develop rebleeding. On multivariate analysis, only use of steroids or azathioprine was significantly associated with rebleeding (HR 3.2, 95% CI 1.070–9.462, p = 0.037).Conclusions
Age >52 years and the presence of a nodular margin of the ulcer were found to be related to increased risk of bleeding in patients with intestinal BD. Rebleeding is not uncommon and not effectively prevented with currently available medications. Further studies are warranted to identify effective measures to decrease rebleeding in intestinal BD.3.
Anthony?B.?Mozer Konstantinos?Spaniolas Megan?E.?Sippey Adam?Celio Mark?L.?Manwaring Kevin?R.?Kasten
Purpose
Optimal timing of surgery for acute diverticulitis remains unclear. A non-operative approach followed by elective surgery 6-week post-resolution is favored. However, a subset of patients fail on the non-operative management during index admission. Here, we examine patients requiring emergent operation to evaluate the effect of surgical delay on patient outcomes.Methods
Patients undergoing emergent operative intervention for acute diverticulitis were queried using the American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) database from 2005 to 2012. Primary endpoints of 30-day overall morbidity and mortality were evaluated via univariate and multivariate analysis.Results
Of the 2,119 patients identified for study inclusion, 57.2 % (n = 1212) underwent emergent operative intervention within 24 h, 26.3 % (n = 558) between days 1–3, 12.9 % (n = 273) between days 3–7, and 3.6 % (n = 76) greater than 7 days from admission. End colostomy was performed in 77.4 % (n = 1,640) of cases. Unadjusted age and presence of major comorbidities increased with operative delay. Further, unadjusted 30-day overall morbidity, mortality, septic complications, and post-operative length of stay increased significantly with operative delay. On multivariate analysis, operative delay was not associated with increased 30-day mortality but was associated with increased 30-day overall morbidity.Conclusions
Hartmann’s procedure has remained the standard operation in emergent surgical management of acute diverticulitis. Delay in definitive surgical therapy greater than 24 h from admission is associated with higher rates of morbidity and protracted post-operative length of stay, but there is no increase in 30-day mortality. Prospective study is necessary to further answer the question of surgical timing in acute diverticulitis.4.
Introduction
HIV infection is increasingly characterized as a chronic condition that can be managed through adherence to a healthy lifestyle, complex drug regimens, and regular treatment and monitoring. The location, quality, and/or affordability of a person’s housing can be a significant determinant of his or her ability to meet these requirements. The objective of this systematic review is to inform program and policy development and future research by examining the available empirical evidence on the effects of housing status on health-related outcomes in people living with HIV/AIDS.Methods
Electronic databases were searched from dates of inception through November 2005. A total of 29 studies met inclusion criteria for this review. Seventeen studies received a “good” or “fair” quality rating based on defined criteria.Results
A significant positive association between increased housing stability and better health-related outcomes was noted in all studies examining housing status with outcomes of medication adherence (n = 9), utilization of health and social services (n = 5), and studies examining health status (n = 2) and HIV risk behaviours (n = 1).Conclusions
Healthcare, support workers and public health policy should recognize the important impact of affordable and sustainable housing on the health of persons living with HIV.5.
Marjolijn E. W. Timmerman Henk Groen Erik Heineman Paul M. A. Broens 《International journal of colorectal disease》2016,31(8):1467-1473
Purpose
The impact of lower body mass index (BMI) on appendicitis has never been addressed. We investigated whether different BMIs affect the diagnosis and treatment of appendicitis in children.Methods
The correlation between BMI and diagnosis accuracy and treatment quality was evaluated by retrospective analysis of 457 children diagnosed with appendicitis. Based on BMI percentiles, patients were classified as either underweight (n = 36), normal weight (n = 346), overweight (n = 59), or obese (n = 16). Diagnosis accuracy was measured by negative appendectomy rate, perforation rate, and number of consultations. Treatment quality was measured by complication rate and length of hospital stay.Results
Underweight patients had the highest negative appendectomy (OR 3.00, P = 0.008) and complication (OR 2.75, P = 0.041) rate. BMI did not influence perforation rate or number of consultations. Both underweight and obese patients stayed in the hospital longer than normal weight patients (regression coefficient 2.34, P = 0.001, and regression coefficient 9.40, P < 0.001, respectively).Furthermore, in obese patients, the hospital stay after open appendectomy was prolonged compared to laparoscopic appendectomy (P < 0.001). No such differences were observed in patients with lower BMI.Conclusions
Underweight children are misdiagnosed more often, stay in hospital longer, and experience more postoperative complications than children of normal weight. Obesity is associated with longer hospital stays. Laparoscopic appendectomy might shorten the length of hospital stays in these patients. We conclude that in addition to obesity, underweight should also be considered a risk factor for children with appendicitis.6.
Objective
We previously demonstrated the benefit of direct, daily collaboration between infectious disease (ID) and critical care practitioners (CCP) on guideline adherence and antibiotic use in the medical intensive care unit (MICU). In this post-intervention review, we sought to establish whether the effect on antibiotic use and guideline adherence was sustainable.Design
A retrospective review of 87 patients, admitted to the 24-bed MICU, was done 3 (n = 45) and 6 months (n = 42) after the intervention.Measurements
Data included demographics, severity indicators, admitting pathology, infectious diagnosis, clinical outcomes [mechanical ventilation days (MVD) and MICU length of stay (LOS), antibiotic days of therapy (DOT), in-hospital mortality], and antibiotic appropriateness based on current guidelines.Results
In the 3-month (3-PI) and 6-month post-intervention (6-PI), there were no significant differences in the APACHE II score, MVD, LOS, DOT, or total antibiotic use at 3 (p = 0.59) and 6-PI (p = 0.87). There was no change in the mean use of extended-spectrum penicillins, cephalosporin, and carbapenems. While there were significant differences in vancomycin usage at 3-PI [3.1 DOT vs. 4.3 DOT (p = 0.007)], this finding was not seen after 6 months [3.1 DOT vs. 3.4 DOT (p = 0.08)]. When compared to the intervention period, the inappropriateness of antibiotic use at 3 (p = 1.00) and 6-PI (p = 0.30) did not change significantly.Conclusions
There were no significant differences in either total antibiotic use or inappropriate antibiotic use at the 6-PI time period. Continuous, daily, direct collaboration between ID and CCP, once implemented, can have lasting effects even at 6 months after the interaction has been discontinued.7.
Purpose
Biofragmentable anastomosis ring (BAR) is an alternative to manual and stapled anastomoses performed within the upper and lower gastrointestinal (GI) tract. The aim of this study was to evaluate the effectiveness of BAR utility for bowel anastomoses based on our own material.Methods
A retrospective analysis was performed to a total of 203 patients who underwent bowel surgery with the use of BAR anastomosis within upper and lower gastrointestinal tract between 2004 and 2014. Data for the analysis was collected based on medical records, treatment protocols, and the results of histological examinations.Results
The study group consisted of 86 women and 117 men. The most common underlying pathology was a malignant disease (n = 165). Biofragmentable anastomosis ring (BAR) size 31 was the most commonly used (n = 87). A total of 169 colocolic or colorectal anastomoses and 28 ileocolic and 8 enteroenteric anastomoses were performed. The mortality rate was 0.5 % (n = 1) whereas re-surgery rate within 30 days was 8.4 % (n = 17). Twenty-eight patients developed perioperative complications with surgical site infection as the most common one (n = 11). Eight patients developed specific complications associated with BAR including an anastomotic leak (n = 6) and intestinal obstruction (n = 2). The mean time of hospital stay after surgery was 12.7 days.Conclusions
The use of BAR for the GI tract anastomoses is simple and rapid method and it is characterized with an acceptable number of perioperative mortality and complication rates. Based on our experience, we recommend the use of BAR anastomosis in different types of intestinal anastomosis in varying clinical scenarios.8.
A. Mekras A. Michalopoulos V. N. Papadopoulos D. Mekras V. Kalles I. Tzeveleki G. Dabakis S. Netta G. Basdanis 《Techniques in coloproctology》2011,15(1):51-54
Purpose
The most common surgical procedures for patients with rectal cancer are low anterior resection (LAR) or abdominoperineal excision (APE). The aim of the present study is to evaluate and report the changes in the incidence of LAR and APE in the surgical treatment of rectal cancer over the last 15 years in a single surgical department.Methods
The patient sample consisted of 251 consecutive patients (mean age 65.17; age range 22–87) that underwent surgical treatment for rectal cancer in a single center from 1996 to 2010. This time frame was divided into three 5-year periods (1996–2000, 2001–2005 and 2006–2010). Patients were classified into one of the aforementioned groups, depending on the date of their treatment.Results
In the first period (1996–2000), 71 patients were treated for rectal cancer. Among them, 32.4% (n = 23) underwent an abdominoperineal excision (APE) while 56.3% (n = 40) were treated with LAR. In the second period (2001–2005), included 102 patients, from which 29.4% (n = 30) received an APE and 60.8% (n = 62) underwent a LAR for their disease. In the final period (2006–2010), from the 78 patients, only 12.8% (n = 10) of them underwent APE, while 74.3% (n = 58) were treated with LAR. There was a statistically significant (chi-square test, P = 0.005) difference between the 3 periods of time concerning the performance of LAR and APE.Conclusions
According to the results of the present study, the rates of APE seem to decrease during the last 15 years, while LAR is more widely used in the surgical treatment of rectal cancer.9.
Yu Ohkubo Yoshihiro Saito Shigehiro Kudo Hiroki Ushijima Miwako Arima Hiroki Hara Takako Yoshii Yoshiyuki Kawashima Takashi Fukuda Daiji Oka Yoichi Tanaka Takeshi Beppu 《Esophagus》2017,14(3):254-261
Background
Cervical esophageal cancer (CEC) is an uncommon disease. Thus, the clinical data from CEC patients have not been sufficient to establish a standard treatment.Methods
Forty-six CEC patients who received definitive radiotherapy at our center from January 2003 to December 2014 were enrolled in this retrospective study. The stages of the patients according to the UICC 2002 staging system were as follows: stage I, n = 5; stage IIA + IIB, n = 3; and stage III, n = 38. The median radiation dose was 60 Gy. Thirty-nine patients (84.8%) received concurrent chemotherapy.Results
The 3-year overall survival rate of the 46 patients was 45.4%. The 3-year laryngectomy-free survival rates of non-T4 (n = 20) and T4 patients (n = 26) were 57.8 and 23.6%, respectively; there was a significant difference (p = 0.010). Among the 35 patients who survived for >1 year after treatment, 29 (82.8%) had mild or no dysphagia and could eat solid foods. Among the 11 patients who died at more than 2 years after treatment, 6 (54.5%) died from distant metastasis. Although the number of cases is small, the results of the log-rank tests for various factors suggest that the performance status, tumor progression (TNM stage, T factor, and N factor), tumor response to definitive radiotherapy, and tumor response to induction chemotherapy might affect the prognosis.Conclusions
Definitive radiotherapy is a promising organ-preserving treatment for CEC, especially in patients with non-T4 disease. However, new treatment strategies will be required to improve the outcomes of patients with advanced CEC, and confirmatory prospective clinical trials are required.10.
Dong?Woo?Kang Han?Deok?Kwak Nak?Song?Sung In?Soo?Yang Se?Jin?Baek Jung?Myun?Kwak Jin?Kim Seon?Hahn?Kim
Purpose
Recently, common application of sphincter-saving resection in rectal cancer has led to acceptance of a 1-cm distal resection margin (DRM). The aim of this study was to evaluate oncologic outcomes of a DRM ≤1 cm in sphincter-saving resection for rectal cancer. The outcomes of a DRM ≤0.5 cm was also evaluated.Methods
We reviewed prospectively collected data from 415 patients who underwent sphincter-saving resection for mid and low rectal cancer between September 2006 and December 2012 at Korea University Anam Hospital. Patients were divided into two groups according to DRM measured in a formalin fixed specimen: ≤1 cm (n = 132) and >1 cm (n = 283). The DRM ≤1 cm group was divided into two subgroups: ≤0.5 cm (n = 45) and >0.5, ≤1 cm (n = 87).Results
Median follow-up periods were 47.2 months. The 5-year local recurrence rate was 8.8% in the DRM ≤1 cm group and 8.5% in the DRM >1 cm group (p = 0.630). The 5-year disease-free survival rate was 75.1 and 76.3% (p = 0.895), and the 5-year overall survival rate was 82.6 and 85.9% (p = 0.401), respectively. In subanalysis of the DRM ≤1 cm group, there was also no significant difference in the local recurrence and survival.Conclusions
There was no significant difference in local recurrence and survival based on DRM length. We found that DRM length less than 1 cm was not a prognostic factor for local recurrence or survival.11.
Aoife M. Egan Sander Galjaard Michael J. A. Maresh Mary R. Loeken Angela Napoli Eleni Anastasiou Eoin Noctor Harold W. de Valk Mireille van Poppel Marie Todd Valerie Smith Declan Devane Fidelma P. Dunne 《Diabetologia》2017,60(7):1190-1196
Aims/hypothesis
The aim of this study was to develop a core outcome set (COS) for trials and other studies evaluating the effectiveness of prepregnancy care for women with pregestational (pre-existing) diabetes mellitus.Methods
A systematic literature review was completed to identify all outcomes reported in prior studies in this area. Key stakeholders then prioritised these outcomes using a Delphi study. The list of outcomes included in the final COS were finalised at a face-to-face consensus meeting.Results
In total, 17 outcomes were selected and agreed on for inclusion in the final COS. These outcomes were grouped under three domains: measures of pregnancy preparation (n = 9), neonatal outcomes (n = 6) and maternal outcomes (n = 2).Conclusions/interpretation
This study identified a COS essential for studies evaluating prepregnancy care for women with pregestational diabetes. It is advocated that all trials and other non-randomised studies and audits in this area use this COS with the aim of improving transparency and the ability to compare and combine future studies with greater ease.12.
N. Issa Y. Fenig M. Yasin H. Schmilovitz-Weiss W. Khoury E. Powsner 《Techniques in coloproctology》2016,20(4):221-226
Background
Peritoneal entry (PE) during transanal endoscopic microsurgery (TEM) for tumors of the upper rectum is not an uncommon complication. The suture line of the rectal defect performed for PE is not devoid of leaks. Diagnostic laparoscopy after PE enables visualization and testing of the suture line. Here, we report the outcome of patients undergoing laparoscopy for PE following TEM.Methods
Data pertaining to patients undergoing laparoscopy for PE following TEM between 2004 and 2013 were retrospectively collected.Results
One hundred and forty-one TEM procedures were performed, and 19 (13 %) with PE were included. The mean age was 68.1 ± 10.6 years, mean distance from the anal verge 12.5 ± 2 cm, and mean tumor size 2 cm. Lesions were located in the lateral wall (n = 14), anteriorly (n = 4), and posteriorly (n = 1). Indications for TEM were: adenoma (n = 13), indeterminate margins after polypectomy (n = 4, a submucosal lesion (n = 1), and a T1N0 adenocarcinoma (n = 1). In all patients, the rectal wall defect was closed primarily. Twelve patients underwent additional laparoscopy and suture line leak testing. In one patient, a small leak was detected which was repaired laparoscopically. In another, a hematoma of the suture line was observed and a drain was left in place. The mean operative time was 109 min (range 80–135 min) for TEM and 33 min (range 22–45 min) for laparoscopy. A diverting ileostomy was fashioned in one patient on postoperative day 3 after TEM without laparoscopy. No other major complications were observed.Conclusions
Laparoscopy after PE during TEM permits visualization and testing of the suture line. It is not associated with increased morbidity, and it may increase the safety of TEM.13.
Oscar Murillo Imma Grau Joan Gomez-Junyent Celina Cabrera Alba Ribera Fe Tubau Carmen Peña Javier Ariza Roman Pallares 《Infection》2018,46(2):245-251
Purpose
The relationship between infective endocarditis (IE) and osteoarticular infections (OAIs) are not well known. We aimed to study the characteristics of patients with IE and OAIs, and the interactions between these two infections.Methods
An observational study (1993–2014) which includes two cohorts: (1) patients with IE (n = 607) and (2) patients with bacteremic OAIs (n = 458; septic arthritis of peripheral and axial skeleton, and vertebral and peripheral osteomyelitis). These two cohorts were prospectively collected, and we retrospectively reviewed the clinical and microbiological variables.Results
There were 70 cases of IE with concomitant OAIs, representing 11.5% of IE cases and 15% of bacteremic OAI cases. Among cases with IE, the associated OAIs mainly involved the axial skeleton (n = 54, 77%): 43 were vertebral osteomyelitis (61%), mainly caused by “less virulent” bacteria (viridans and bovis streptococci, enterococci, and coagulase-negative staphylococci), and 15 were septic arthritis of the axial skeleton (21%), which were mainly caused by Staphylococcus aureus. OAIs with involvement of the axial skeleton were associated with IE (adjusted OR = 2.2; 95% CI 1.1–4.3) independently of age, sex, and microorganisms.Conclusions
Among patients with IE, the associated OAIs mainly involve the axial skeleton. Transesophageal echocardiography should be carefully considered in patients presenting with these bacteremic OAIs.14.
Tucker Joseph D. Meyers Kathrine Best John Kaplan Karyn Pendse Razia Fenton Kevin A. Andrieux-Meyer Isabelle Figueroa Carmen Goicochea Pedro Gore Charles Ishizaki Azumi Khwairakpam Giten Miller Veronica Mozalevskis Antons Ninburg Michael Ocama Ponsiano Peeling Rosanna Walsh Nick Colombo Massimo G. Easterbrook Philippa 《BMC infectious diseases》2017,17(1):701-185
Background
Innovation contests are a novel approach to elicit good ideas and innovative practices in various areas of public health. There remains limited published literature on approaches to deliver hepatitis testing. The purpose of this innovation contest was to identify examples of different hepatitis B and C approaches to support countries in their scale-up of hepatitis testing and to supplement development of formal recommendations on service delivery in the 2017 World Health Organization hepatitis B and C testing guidelines.Methods
This contest involved four steps: 1) establishment of a multisectoral steering committee to coordinate a call for contest entries; 2) dissemination of the call for entries through diverse media (Facebook, Twitter, YouTube, email listservs, academic journals); 3) independent ranking of submissions by a panel of judges according to pre-specified criteria (clarity of testing model, innovation, effectiveness, next steps) using a 1-10 scale; 4) recognition of highly ranked entries through presentation at international conferences, commendation certificate, and inclusion as a case study in the WHO 2017 testing guidelines.Results
The innovation contest received 64 entries from 27 countries and took a total of 4 months to complete. Sixteen entries were directly included in the WHO testing guidelines. The entries covered testing in different populations, including primary care patients (n = 5), people who inject drugs (PWID) (n = 4), pregnant women (n = 4), general populations (n = 4), high-risk groups (n = 3), relatives of people living with hepatitis B and C (n = 2), migrants (n = 2), incarcerated individuals (n = 2), workers (n = 2), and emergency department patients (n = 2). A variety of different testing delivery approaches were employed, including integrated HIV-hepatitis testing (n = 12); integrated testing with harm reduction and addiction services (n = 9); use of electronic medical records to support targeted testing (n = 8); decentralization (n = 8); and task shifting (n = 7).Conclusion
The global innovation contest identified a range of local hepatitis testing approaches that can be used to inform the development of testing strategies in different settings and populations. Further implementation and evaluation of different testing approaches is needed.15.
Purpose
Many studies have shown that hospital volume is significantly associated with short- and long-term outcomes in various diseases, including cancer. However, there have been no reports discussing the relationship between hospital volume and familial adenomatous polyposis (FAP). This study aimed to clarify whether hospital volume affects short- and long-term outcomes in FAP patients.Methods
We established a retrospectively collected database of FAP patients who underwent initial surgical treatment at 23 Japanese institutions during 2000–2012. Factors associated with short- and long-term outcomes were analyzed.Results
The study cohort included 303 FAP patients. These patients were classified into tertile categories according to hospital volume: low (n = 31), middle (n = 72), and high volume (n = 200). The proportion of only adenoma/stage 0 was comparable among tertile categories. The adoption of operative procedure significantly differed among tertile categories; specifically, high-volume institutions preferred handsewn ileal pouch-anal anastomosis without diverting ileostomy (P < 0.001 and < 0.001, respectively). Nevertheless, the frequency of complications with Clavien-Dindo classification grade ≥ 3 was not significantly different among tertile categories. Functional results were acceptable in every category. Wexner scores were significantly lower in high-volume compared to low-volume institutions (P = 0.02). Multivariate analyses showed that UICC stage and hospital volume were significantly associated with overall survival (P = 0.04 and 0.03, respectively).Conclusions
Hospital volume was significantly associated with short- and long-term outcomes in FAP patients.16.
Alice Kuster Jean-Baptiste Arnoux Magalie Barth Delphine Lamireau Nada Houcinat Cyril Goizet Bérénice Doray Stéphanie Gobin Manuel Schiff Aline Cano Daniel Amsallem Christine Barnerias Boris Chaumette Marion Plaze Abdelhamid Slama Christine Ioos Isabelle Desguerre Anne-Sophie Lebre Pascale de Lonlay Laurence Christa Individual contributors who contributed to this work 《Journal of inherited metabolic disease》2018,41(1):129-139
Background and aim
To improve the diagnostic work-up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns.Methods
Neurotransmitter determinations in CSF from 1200 patients revealed abnormal values in 228 (19%) cases. In 54/228 (24%) patients, a final diagnosis was identified.Results
We have reported primary (30/54, 56%) and secondary (24/54, 44%) monoamine neurotransmitter disorders. For primary deficiencies, the most frequently mutated gene was DDC (n = 9), and the others included PAH with neuropsychiatric features (n = 4), PTS (n = 5), QDPR (n = 3), SR (n = 1), and TH (n = 1). We have also identified mutations in SLC6A3, FOXG1 (n = 1 of each), MTHFR (n = 3), FOLR1, and MTHFD (n = 1 of each), for dopamine transporter, neuronal development, and folate metabolism disorders, respectively. For secondary deficiencies, we have identified POLG (n = 3), ACSF3 (n = 1), NFU1, and SDHD (n = 1 of each), playing a role in mitochondrial function. Other mutated genes included: ADAR, RNASEH2B, RNASET2, SLC7A2-IT1 A/B lncRNA, and EXOSC3 involved in nuclear and cytoplasmic metabolism; RanBP2 and CASK implicated in post-traductional and scaffolding modifications; SLC6A19 regulating amino acid transport; MTM1, KCNQ2 (n = 2), and ATP1A3 playing a role in nerve cell electrophysiological state. Chromosome abnormalities, del(8)(p23)/dup(12) (p23) (n = 1), del(6)(q21) (n = 1), dup(17)(p13.3) (n = 1), and non-genetic etiologies (n = 3) were also identified.Conclusion
We have classified the final 54 diagnoses in 11 distinctive biochemical profiles and described them through 20 clinical features. To identify the specific molecular cause of abnormal NT profiles, (targeted) genomics might be used, to improve diagnosis and allow early treatment of complex and rare neurological genetic diseases.17.
A. d’Alessandro N. Kari A. Alameh N. Pasquier A. Tarhini B. Vinson Bonnet R. Noun E. Chouillard 《Techniques in coloproctology》2018,22(4):301-304
Background
The umbilicus, an embryological natural orifice, is increasingly used as the only access route during single-incision laparoscopic surgery (SILS) for colorectal disease. As a part of some of these procedures, a temporary, diverting ostomy could be exteriorized through the umbilicus itself. Theoretical advantages include better preservation of the abdominal wall and potentially superior cosmetic results. The aim of the present study was to evaluate our preliminary experience in SILS colorectal resection with umbilical stoma (u-stoma).Methods
We retrospectively reviewed all colorectal patients operated using SILS for benign or malignant disease at Paris Poissy Medical Center. Patients were selected for consideration of u-stoma with our stoma therapists.Results
Between January 2010 and December 2016, 234 patients underwent colorectal SILS procedures. In 74 patients (31.6%), an ileostomy (n = 41) or a colostomy (n = 33) was fashioned. Of these, 20 (27% of all ostomies) were umbilical stomas. The 20 u-stoma patients, 10 men and 10 women, received either a loop ileostomy (n = 14) or an end (n = 4) or loop (n = 2) colostomy. The mean age was 52 years (range 29–81 years). There was no mortality. Operative stoma-related morbidity occurred in only 5% of patients (n = 1: ileal torsion volvulus). Median follow-up after stoma formation was 30 months (range 12–59 months). Adjustment to the stoma and quality of life were satisfactory as estimated by both the patient and the stoma therapist. All stomas were reversed. At a median follow-up of 27.5 months (range 7–55 months) after stoma reversal, two patients had reoperation for incisional hernia.Conclusion
This preliminary experience showed that u-stoma is a feasible and safe alternative to more conventional ostomy after SILS.18.
Purpose
The aim of medical treatment of severe acute colitis (SAC) complicating inflammatory bowel disease (IBD) is to avoid surgery, but in 20 to 50% of the cases, colectomy remains necessary. This study aimed to determine the impact of the different lines of medical therapy (i.e., steroids, anti-TNF, or ciclosporin) on postoperative course after laparoscopic subtotal colectomy for SAC complicating IBD.Methods
All the patients who underwent laparoscopic subtotal colectomy for SAC were included and divided into two groups: those who presented with postoperative morbidity (group A) and those with an uneventful postoperative course (group B). Preoperative physical, endoscopic and radiological data, and medical treatments were compared between groups.Results
From 2006 to 2015, 65 consecutive patients (32 males, median age = 35 [17–87] years) operated for SAC were included. Postoperative morbidity occurred in 19 patients (29%, group A) and was mainly represented by surgical morbidity (n = 15), including ileus (n = 9), stoma-related complications (n = 5), and intra-abdominal abscess (n = 4). Lichtiger score, endoscopic and radiological evaluations were similar between groups. Patients with morbidity had more frequently presented two previous episodes of SAC (26%) than those without (7%, p = 0.04). Duration of anti-TNF treatment was more frequently longer than 2 months in group A (67%) than that in group B (14%, p = 0.04). No significant differences between groups were noted regarding other preoperative medical treatments and number of lines therapy.Conclusion
This study suggests that postoperative course after laparoscopic subtotal colectomy for SAC is affected by prolonged preoperative anti-TNF therapy, and in the case of recurrent SAC.19.
Prabin Sharma Siddhartha Yadav Christine Marie Needham Paul Feuerstadt 《Clinical journal of gastroenterology》2017,10(2):103-111
Introduction
Sclerosing mesenteritis includes a spectrum of inflammatory disorders involving the adipose tissue of the bowel mesentery.Aim
To perform a systematic review of previously reported cases of sclerosing mesenteritis (SM) to determine the epidemiology, risk factors, methods of diagnosis, treatment patterns and outcomes for this disease.Methods
Medline, PubMed, Google Scholar and Cochrane database were searched using keywords mesenteric panniculitis, retractile mesenteritis, mesenteric lipodystrophy and sclerosing mesenteritis. Data was collated into a single excel database, transferred into SPSS (Version 21.0) and analyzed.Results
Patients diagnosed with SM were between ages of 3 and 88 with a mean age of 55 ± 19.2 years. SM was more common in Caucasians (n = 28, 60.8% of those reporting ethnicity) and men (n = 133, 69.3%) with a male to female ratio of 2.3:1. 28.6% (n = 55) of patients reported a prior abdominal surgery or abdominal trauma, 8.9% (n = 17) had a history of malignancy, and 5.7% (n = 11) of autoimmune disease. 85.4% (n = 164) underwent surgical abdominal exploration (open or laparoscopic); 41.7% (n = 80) had surgery with resection of the involved bowel and mesentery. 34.9% (n = 67) of patients received medical treatment with the majority of them receiving steroids (n = 56, 83.5%). Symptom duration of more than a month (66.7% vs 40.4%, p < 0.05), underlying autoimmune disorder (14.3% vs 4.0%, p < 0.05) or low protein (14.3% vs 4.0%, p < 0.05) at presentation were seen more frequently in those with poor treatment response whereas patients with tender abdomen (45.0% vs 19.0%, p < 0.05) or leukocytosis (20.5% vs 0.0%, p < 0.05) at presentation were likely to have good response to therapy. The most common complications included bowel obstruction/ileus/ischemia (n = 10, 23.8%) and obstructive uropathy/renal failure (n = 10, 23.8%). There were a total of 14 deaths, 12 (85.7%) of which were secondary to SM related complications.Conclusion
SM is a poorly understood chronic inflammatory disease. Our study is the first systematic review of the published cases of SM. Future work is required to better understand this disease and its optimal therapy.20.