Specific Clinical Criteria Research Articles

CHARGE syndrome: genetic aspects and dental challenges, a review and case presentation

BackgroundCHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the CHD7 gene (OMIM 608892) at chromosome locus 8q12.Case presentationA South African female of mixed ancestry heritage, aged 4 years, was referred for dental assessment to the Faculty of Dentistry, University of the Western Cape, in 2018. She had a diagnosis of CHARGE syndrome confirmed by a Medical Geneticist from the Division of Molecular Biology and Human Genetics at the University of Stellenbosch.The patient had a long prior history of health and developmental problems, with the correct diagnosis becoming apparent over time. She presented with many oral and craniofacial features warranting consideration by the dentist including micrognathia, hypoplastic nasal bones, cranial nerve dysfunction, bruxism, craniofacial anomalies and compromised sensory perception. The treatment was mainly preventive and, although she fed through a percutaneous endoscopic gastrostomy tube (PEG), maintenance of her oral hygiene was necessitated.Conclusion: CS is a multisystem condition and the optimal care for an individual is with a specialist multidisciplinary team. The numerous systemic problems affecting these individuals take precedence in their care, and often there is neglect of their dental concerns. Given the abnormalities frequently present in the oral and craniofacial region, the authors recommend that a team of dental and other medical specialists be involved in the management of individuals with CS.

Hepatitis B virus seroepidemiology data for Africa: Modelling intervention strategies based on a systematic review and meta-analysis.

International Sustainable Development Goals (SDGs) for elimination of hepatitis B virus (HBV) infection set ambitious targets for 2030. In African populations, infant immunisation has been fundamental to reducing incident infections in children, but overall population prevalence of chronic hepatitis B (CHB) infection remains high. In high-prevalence populations, adult catch-up vaccination has sometimes been deployed, but an alternative Test and Treat (T&T) approach could be used as an intervention to interrupt transmission. Universal T&T has not been previously evaluated as a population intervention for HBV infection, despite high-profile data supporting its success with human immunodeficiency virus (HIV). We set out to investigate the relationship between prevalence of HBV infection and exposure in Africa, undertaking a systematic literature review in November 2019. We identified published seroepidemiology data representing the period 1995-2019 from PubMed and Web of Science, including studies of adults that reported prevalence of both hepatitis B surface antigen (HBsAg; prevalence of HBV infection) and antibody to hepatitis B core antigen (anti-HBc; prevalence of HBV exposure). We identified 96 studies representing 39 African countries, with a median cohort size of 370 participants and a median participant age of 34 years. Using weighted linear regression analysis, we found a strong relationship between the prevalence of infection (HBsAg) and exposure (anti-HBc) (R2 = 0.45, p < 0.001). Region-specific differences were present, with estimated CHB prevalence in Northern Africa typically 30% to 40% lower (p = 0.007) than in Southern Africa for statistically similar exposure rates, demonstrating the need for intervention strategies to be tailored to individual settings. We applied a previously published mathematical model to investigate the effect of interventions in a high-prevalence setting. The most marked and sustained impact was projected with a T&T strategy, with a predicted reduction of 33% prevalence by 20 years (95% CI 30%-37%) and 62% at 50 years (95% CI 57%-68%), followed by routine neonatal vaccination and prevention of mother to child transmission (PMTCT; at 100% coverage). In contrast, the impact of catch-up vaccination in adults had a negligible and transient effect on population prevalence. The study is constrained by gaps in the published data, such that we could not model the impact of antiviral therapy based on stratification by specific clinical criteria and our model framework does not include explicit age-specific or risk-group assumptions regarding force of transmission. The unique data set collected in this study highlights how regional epidemiology data for HBV can provide insights into patterns of transmission, and it provides an evidence base for future quantitative research into the most effective local interventions. In combination with robust neonatal immunisation programmes, ongoing PMTCT efforts, and the vaccination of high-risk groups, diagnosing and treating HBV infection is likely to be of most impact in driving advances towards elimination targets at a population level.

Between intensive care and palliative care at the time of CoViD-19.

The pandemic infection caused by the virus SARS-CoV-2 has determined a severe imbalance between demand and actual supply of intensive care. The shortage of intensive care units (ICU) beds and ventilators for the treatment of patients with severe respiratory failure produced angst in the clinicians/intensivists who have to decide which patients admit to ICU and in which patients to implement palliative care. They have to apply specific clinical and ethical criteria, in emergency conditions. Proportionality and appropriateness criteria should be integrated with equity, equality, utility criteria, widening the distributive justice concept from the right of the patient to receive all available therapies to a right resources allocation during shortage, guided by public health ethic. The clinical criteria should include the disease severity, the number and severity of comorbidities, frailty, the organ failures and their stage, the patient's age, the functional autonomy and cognitive status. Consequently the first come-first served rule to ICU admission should not be applied. The patients not admitted to ICU due to clinical reasons and advanced stage diseases should receive a high quality palliative care, to obtain a good symptoms control (mainly dyspnea, anxiety and delirium) and to implement palliative sedation at the end of life. Finally particular attention should be paid to the bereavement management of the family/caregivers and in the right approach of psychological problems and Post-Traumatic Stress Disorder of health workers involved in the pandemia.

PD45-11 UPDATED OUTCOMES FOR UNIVERSAL ACTIVE SURVEILLANCE OF SMALL RENAL MASS PATIENTS

You have accessJournal of UrologyKidney Cancer: Epidemiology & Evaluation/Staging/Surveillance II (PD45)1 Apr 2020PD45-11 UPDATED OUTCOMES FOR UNIVERSAL ACTIVE SURVEILLANCE OF SMALL RENAL MASS PATIENTS Arun Menon*, Ahmed Abouelenin, Tashionna White, Gaybrielle James, Kristopher Attwood, and Eric Kauffman Arun Menon*Arun Menon* More articles by this author , Ahmed AboueleninAhmed Abouelenin More articles by this author , Tashionna WhiteTashionna White More articles by this author , Gaybrielle JamesGaybrielle James More articles by this author , Kristopher AttwoodKristopher Attwood More articles by this author , and Eric KauffmanEric Kauffman More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000000932.011AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Metastatic risk for small renal mass (SRM) patients on active surveillance (AS) is low and often outweighed by treatment morbidity. Rates of treatment conversion in unselected SRM patients based on specific radiographic/histologic progression criteria are unknown. We report our updated experience with “universal AS” management, which uses defined clinical progression criteria for triggering treatment, and recommends AS to all SRM patients who lack these criteria METHODS: All non-end stage renal disease patients with SRM tumors presenting from January 2013 to September 2017 to a single urologic oncologist at a National Comprehensive Cancer Network institute were recommended AS if specific radiographic/histologic progression criteria for triggering treatment were absent at presentation. Progression criteria included any of the following in the absence of benign tumor biopsy histology: longest tumor diameter (LTD) >4 cm, growth rate >5 mm/year, LTD >3 cm + growth rate ≥3 mm/year, high risk biopsy histology, >cT3a stage, or symptoms. Biopsy was performed for LTD >2 cm. Outcome measures included progression-free survival (PFS) and metastasis-free survival (MFS). RESULTS: Of 127 SRM patients (143 tumors) with no prior RCC history and >3 months follow up, 4 met progression criteria at presentation and were recommended treatment. All remaining 123 SRM patients (median LTD 2.2, range 0.9-3.9 cm) were managed with AS. Over a median follow up was 31 (range 6-68) months, 36 (29%) AS patients met >/=1 progression criterion, leading to treatment conversion in most cases (28 resection, 1 ablation). 3-year PFS and MFS rates were 70% and 100%, respectively; lower PFS rates were associated with initial LTD (84% for <2 cm, 75% for 2.1-3 cm, 49% for >3cm) and clear cell RCC biopsy histology (43%) (Figure). Resected tumors were enriched for adverse pathology (64% high grade and/or pT3a) and malignant histology (100% RCC). Only 1 (1%) non-progressing patient converted to treatment (anxiety). CONCLUSIONS: Universal AS using specific clinical progression criteria allows treatment avoidance for many SRM patients (particularly if LTD <3 cm), and improves identification of more aggressive tumors for treatment selection. Longer follow up is needed to assess the durability and oncologic safety of universal AS for SRM patients. Source of Funding: None © 2020 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 203Issue Supplement 4April 2020Page: e917-e918 Advertisement Copyright & Permissions© 2020 by American Urological Association Education and Research, Inc.MetricsAuthor Information Arun Menon* More articles by this author Ahmed Abouelenin More articles by this author Tashionna White More articles by this author Gaybrielle James More articles by this author Kristopher Attwood More articles by this author Eric Kauffman More articles by this author Expand All Advertisement PDF downloadLoading ...

Chronic traumatic encephalopathy: understanding the facts and debate.

Chronic traumatic encephalopathy (CTE) is hypothesized to be a progressive neurodegenerative disease leading to dementia after repetitive head impacts. This review summarizes the recent evidence on CTE to highlight the facts currently known and the areas that remain poorly understood. Increasing evidence suggests that many of the prior assertions about CTE in relation to repetitive head trauma are premature. First, CTE lesions have been observed in individuals with no history of head trauma/impacts. In addition, attempts to characterize possible clinical markers of CTE have had several shortcomings, notably an absence of detailed clinical assessments during life, vague/nonspecific symptom reports, and crude methodology. Moreover, recent studies demonstrate that current CTE pathological criteria have limitations and are in need of refinement/validation. CTE is still in the early stages of research as a neuropathological condition and no specific clinical criteria exist. Claims about CTE being a progressive disease entity and caused exclusively by head trauma/impacts are not well supported at present. Such assertions may have impeded our understanding of the frequency and significance of this disorder. Refining diagnostic criteria to reduce ambiguity in classifying cases will be essential before risk factors and/or possible clinical markers may be identified.

Saving the Breast Saves the Lives of Breast Cancer Patients

Introduction. Surgery has been known as the procedure of choice for breast cancer management since 1700 years before Christ. Nowadays, breast-conserving surgery and mastectomy are performed in selected cases with specific clinical criteria. Here, we compare these two procedures for breast cancer patients with variable features in Cancer Research Center, Tehran, as a single institution experience. Methods In this 25-year follow-up retrospective cohort study, we identified breast cancer patients who had undergone breast-conserving therapy or mastectomy. Disease-free survival and overall survival were evaluated using Kaplan–Meier survival analysis and the log-rank test between the two groups. A p value less than 0.05 was considered statistically significant. Results A total of 3358 breast cancer patients, including 61% breast-conserving therapy and 39% mastectomy cases were identified, with a mean follow-up time of 94 months. The overall survival and disease-free survival of all cases were significantly better in breast-conserved patients, particularly in early-stage breast cancer with favorable clinical, pathological, and biological features. Ten-year disease-free survival and overall survival in breast-conserving therapy and mastectomy cases were 74%, 88% and 58%, 80%, respectively. Conclusion Breast-conserving surgery and radiation therapy prove to be an appropriate treatment option for breast cancer patients in terms of overall survival and disease-free survival when indicated.

Bridging the Collaboration Gap: Real-time Identification of Clinical Specimens for Biomedical Research

Introduction: Biomedical and translational research often relies on the evaluation of patients or specimens that meet specific clinical or laboratory criteria. The typical approach used to identify biospecimens is a manual, retrospective process that exists outside the clinical workflow. This often makes biospecimen collection cost prohibitive and prevents the collection of analytes with short stability times. Emerging data architectures offer novel approaches to enhance specimen-identification practices. To this end, we present a new tool that can be deployed in a real-time environment to automate the identification and notification of available biospecimens for biomedical research. Methods: Real-time clinical and laboratory data from Cloverleaf (Infor, NY, NY) were acquired within our computational health platform, which is built on open-source applications. Study-specific filters were developed in NiFi (Apache Software Foundation, Wakefield, MA, USA) to identify the study-appropriate specimens in real time. Specimen metadata were stored in Elasticsearch (Elastic N. V., Mountain View, CA, USA) for visualization and automated alerting. Results: Between June 2018 and December 2018, we identified 2992 unique specimens belonging to 2815 unique patients, split between two different use cases. Based on laboratory policy for specimen retention and study-specific stability requirements, secure E-mail notifications were sent to investigators to automatically notify of availability. The assessment of throughput on commodity hardware demonstrates the ability to scale to approximately 2000 results per second. Conclusion: This work demonstrates that real-world clinical data can be analyzed in real time to increase the efficiency of biospecimen identification with minimal overhead for the clinical laboratory. Future work will integrate additional data types, including the analysis of unstructured data, to enable more complex cases and biospecimen identification.

Диагностические критерии астенической формы аккомодационной астенопии у пациентов с компьютерным зрительным синдромом

Aim: to assess the prevalence and clinical functional features of asthenic accommodative asthenopia in patients with computer vision syndrome.Patients and Methods: 86 men (172 eyes) aged 24–36 years (mean age 28.6±1.4 years) were examined. Major inclusion criteria were occupational daily activities (at least 2 years) regarded as a visually intensive work related to electronic chart displays (at least 8 hours daily) with a high level of responsibility for a final result; complaints which are typical of accommodative asthenopia and evident of its subcompensation or decompensation; low myopia (SE &lt;3.0 diopters) or emmetropia; no ocular disorders (excepting refractive errors).Results: the analysis of basic diagnostic criteria demonstrated that habitually excessive accommodation strain (HEAS) was diagnosed in 51 patients (59.3%) and asthenic accommodative asthenopia in 19 patients (22.1%). In 16 patients (18.6%), the parameters did not meet the criteria of the investigated types of asthenopia. The most typical accommodative disorders in asthenic accommodative asthenopia are the significant reduction of accomodogram growth parameters and the high-frequency component of accommodative microfluctuations. The reasons for these phenomena are asthenization and weak ciliary muscle. Additionally, patients with asthenic accommodative asthenopia were characterized by the lowest score of the quality of visual life and subjective psychophysiological status compared to HEAS patients and controls. Conclusion: asthenic accommodative asthenopia is characterized by specific clinical functional and diagnostic criteria identified by both conventional and modern methods of the examination of visual accommodative system. These criteria can be recommended to assess the efficacy of preventive and therapeutic measures.Keywords: asthenopia, computer vision syndrome, accommodation, objective accommodography.For citation: Ovechkin I.G., Gadzhiev I.S., Kozhukhov A.A., Belikova E.I. Diagnostic criteria for asthenic accommodative asthenopia in patients with computer vision syndrome. Russian Journal of Clinical Ophthalmology. 2020;20(4):169–174. DOI: 10.32364/2311-7729-2020-20-4-169-174.

WAYS OF OPTIMIZING THE DIAGNOSTICS OF FOOD ALLERGIES IN CHILDREN BASED ON THE CLINICAL AND IMMUNOLOGICAL CRITERIA

The aim of the research was to investigate the spectrum of food sensitization, followed by the determination of the main clinical criteria and immunological markers of food allergy in children with gastroduodenal pathology and atopic dermatitis. Materials and methods: We conducted a comprehensive clinical and immunological examination of 120 children aged from 6 to 15 years with gastroduodenal pathology (group 1; n = 64) and atopic dermatitis (group 2; n = 56), who had a history of adverse allergic reactions to food. The control group consisted of 22 apparently healthy children. Results: In the group of children with gastroduodenal pathology, the spectrum of the most common significant food allergens was represented by legumes, the reaction to which was observed in 25 (39.1%) subjects, eggs (25.0%) and fish (23.4%), which were found in every fourth child. Among patients with atopic dermatitis, the leading positions were occupied by fruits, which were registered in 20 (35.7%) children, nuts - in 15 (26.8%), honey and vegetables - in 11 (19.6%) children, respectively. The study of immunological status in comparison with the control group revealed reliable increases in pro-inflammatory T-helper-2 cytokines - interleukin-4 and chemokine TARC/CCL-17 and a simultaneous decrease in anti-inflammatory interleukin-10 in children of the 1st and 2nd groups who had gastrointestinal and skin manifestations of allergic reactions when eating food products. Conclusions: The study of peculiarities of adverse reactions to food in the examined children allowed us to identify specific clinical criteria and immunological markers of food allergy, which had certain features depending on the skin or gastrointestinal manifestations.

A 24-month randomized clinical study of flowable bulk-fill resin composites in Class III restorations.

The 24-month clinical performance of 3 commercially available flowable bulk-fill resin composites in Class III restorations was evaluated. Forty-two patients, 27 females (64.3%) and 15 (35.7%) males, received at least 3 Class III restorations that never exceeded 4 mm depth and width. One hundred thirty-eight teeth, divided up into three groups (n=46), were randomly restored with Admira Fusion x-base (AFB), Estelite Bulk Fill Flow (EBF) and SDR flow+ (SDR) in one single increment. A 2-step self-etch adhesive system Clearfil SE Bond (C-SE) with selective enamel etching was used for all restorations. The restorations were clinically evaluated using a slightly modified USPHS criteria at the baseline and every 6 months for 24 months. Success rates of each material between the baseline and at 24 months were compared with the McNemar test. At each timepoint, the comparison of the clinical performance among materials in terms of the ratings of the considered criteria was analyzed by using the Friedman and Cochran's Q tests. At the end of the 24-month follow-up, the overall clinical success rate was 100% for each tested material. However, significant differences among the composites were highlighted for several criteria involving the marginal adaptation, marginal discoloration, surface texture, surface staining and color match. The flowable bulk-fill resin composites tested showed an overall good effectiveness for Class III restorations after the 24 months, although significant rating differences among the materials emerged for some specific clinical criteria. Key words:Bulk-fill, Class III restoration, flowable composite, clinical study, self-etching adhesive.

The incidence and outcome of sepsis and septic shock at intensive care unit of first central hospital of Mongolia

Introduction: Sepsis represents a significant socioeconomic burden worldwide. Information about sepsis in Mongolia remains rare and insufficient. Objectives: The purpose of this study was to determine the incidence and outcome for sepsis by admissions to the mixed intensive care unit (ICU) of First Central Hospital of Mongolia (FCHM), as well as independent predictors of mortality. Methods: We performed a 6 month, closed, retrospective, observational cohort study in the ICU of FCHM. All admissions into the mixed intensive care unit (MICU), from September 2017 to March 2018 were screened and patients with sepsis or septic shock were included. Cases with an incomplete record, death or discharge from ICU earlier than 24h and documentation of do not resuscitate orders within 24h of admission were excluded from the study. In case of readmission, only the first admission was considered. All statistical analyses were performed with the software Stata-12. Results: A total of 114 patients, 34.6% of ICU admissions were diagnosed with sepsis (n = 50) or septic shock (n = 64) according to specific clinical criteria and were included into this study. Patients admitted to the ICU were predominantly female (53.5%), average age was 48.3±18.4 years. The most frequent sites of infection were soft tissue infection and urinary-tract infection. The overall intensive care unit mortality was 32.87% but the mortality from the sepsis-group was 55.2% compared to 22.3% for the non-sepsis group. Through a logistic regression, the presence of lung infection (OR, 2.8; 95%CI, 1.0–7.7) had a significant association with mortality whereas the presence of soft tissue infection had a low associated with mortality. Conclusion: The incidence of sepsis and septic shock were common in our ICU with high mortality and can be of help to know more about sepsis and septic shock in Mongolia.

Molecular and clinical patterns of local progression in the pancreatic remnant following resection of pancreatic intraductal papillary mucinous neoplasm (IPMN)

Intraductal papillary mucinous neoplasms (IPMN) are pancreatic cystic lesions that can progress to invasive carcinoma. Consensus guidelines indicate surgery for IPMN at high risk of malignant progression, as assessed by specific radiological and clinical criteria, whereas an active radiological surveillance is recommended for IPMN at low risk of malignancy. The management of IPMN is further complicated by the risk of developing a distinct new cyst or a ductal adenocarcinoma in the remnant pancreas, either synchronously or metachronously. Several studies therefore investigated local progression in the remnant pancreas following partial pancreatic resection for IPMN and whether an unstable epithelium at risk for malignant degeneration may exist. Understanding the biological mechanisms behind progression of IPMN will help in identifying patients that would benefit from the resection of the entire pancreas.

Correlation of histological and microbiological findings in septic and aseptic knee implant failure

IntroductionThe Musculoskeletal Infection Society (MSIS) has defined specific clinical and laboratory criteria for the diagnosis of periprosthetic joint infection (PJI). In this study we assessed the diagnostic utility of MSIS microbiological and histological criteria for PJI in 138 cases of septic and aseptic knee implant failure.Materials and methodsIntra-operative samples from 60 cases of knee septic implant failure (SIF) and 78 cases of aseptic implant failure (AIF), defined on the basis of clinical, laboratory and operative findings/surgical management, were analysed microbiologically and histologically. Findings were correlated with the final clinical diagnosis and the specificity, sensitivity, accuracy, positive and negative predictive value of MSIS microbiological and histological criteria for knee PJI were assessed.Results80% of SIF cases showed culture of the same organism from two or more samples (ie MSIS microbiological criteria for definite PJI); 8.3% grew an organism from one sample, and 11.7% showed no growth from any sample. 23.1% of AIF cases grew an organism from one sample and 76.9% showed no growth from any sample. MSIS histological criteria for PJI identified 96.7% of SIF cases. The sensitivity, specificity, accuracy and positive and negative predictive value of MSIS histological criteria for PJI were 96.7%, 100%, 98.6%, 100% and 97.5%, respectively. MSIS microbiological and histological criteria identified all AIF cases.ConclusionsKnee PJI is more often identified by current MSIS histological than microbiological criteria. A significant proportion of SIF cases show either no growth or growth of an organism from only one sample. AIF is identified by both MSIS microbiological and histological criteria. Correlation of clinical, radiological and laboratory findings is required for the diagnosis of knee PJI.

The Neurologic Assessment in Neuro-Oncology (NANO) Scale as an Assessment Tool for Survival in Patients With Primary Glioblastoma.

The Neurologic Assessment in Neuro-Oncology (NANO) scale is a standardized objective metric designed to measure neurological function in neuro-oncology. Current neuroradiological evaluation guidelines fail to use specific clinical criteria for progression. To determine if the NANO scale was a reliable assessment tool in glioblastoma (GBM) patients and whether it correlated to survival. Our group performed a retrospective review of all patients with newly diagnosed GBM from January 1, 2010, through December 31, 2012, at our institution. We applied the NANO scale, Karnofsky performance score (KPS), Eastern Cooperative Oncology Group (ECOG) scale, Macdonald criteria, and the Response Assessment in Neuro-Oncology (RANO) criteria to patients at the time of diagnosis as well as at 3, 6, and 12 mo. Initial NANO score was correlated with overall survival at time of presentation. NANO progression was correlated with decreased survival in patients at 6 and 12 mo. A decrease in KPS was associated with survival at 3 and 6 mo, an increase in ECOG score was associated only at 3 mo, and radiological evaluation (RANO and Macdonald) was correlated at 3 and 6 mo. Only the NANO scale was associated with patient survival at 1 yr. NANO progression was the only metric that was linked to decreased overall survival when compared to RANO and Macdonald at 6 and 12 mo. The NANO scale is specific to neuro-oncology and can be used to assess patients with glioma. This retrospective analysis demonstrates the usefulness of the NANO scale in glioblastoma.

Abstract 16918: Non-Invasive Diagnosis of Pulmonary Vascular Disease Using Inhaled 129-XenonMRI

Introduction: Pulmonary arterial hypertension (PAH) carries significant morbidity and mortality. Its diagnosis requires meeting specific hemodynamic and clinical criteria and can be particularly challenging in patients with concomitant heart or lung disease. Hyperpolarized 129 Xenon ( 129 Xe) magnetic resonance imaging and dynamic spectroscopy may overcome these challenges, providing a non-invasive new tool to diagnose and monitor PAH. This is based on its unique cardiogenic oscillations reflected in the 129 Xe spectrum as it transfers to red blood cells (RBCs, Figure). Hypothesis: We hypothesized that changes in the RBC 129 Xe spectroscopic parameters will discriminate PAH from healthy volunteers, patients with left heart failure, idiopathic pulmonary fibrosis (IPF) or chronic obstructive pulmonary disease (COPD). Methods: 129 Xe spectra were dynamically acquired every 20 milliseconds in all subjects. At each time point, the amplitude, chemical shift, linewidth, and phase of the 129 Xe-RBC resonance was calculated. Cardiogenic oscillations in these spectral parameters were compared using the Kruskal-Wallis test, followed by pairwise comparisons with the Wilcoxon rank sum test. Results: A total of 14 healthy volunteers, 10 subjects with PAH, 5 subjects with left heart failure, 9 subjects with IPF, and 7 subjects with COPD underwent 129 Xe spectroscopy. In patients with PAH, RBC amplitude oscillations were significantly reduced compared to those with IPF (p &lt; 0.001) or healthy subjects (p = 0.0064, Figure). Oscillations in chemical shift and phase were only observed in IPF patients. Conclusions: 129 Xenon dynamic spectroscopy produces different RBC signatures in patients with PAH, IPF, and healthy volunteers. 129 Xe uniquely probes the alveolar-capillary interface and can thus detect the effect of arterial lesions on capillary blood volume oscillations.

Neonatal necrotizing enterocolitis - diagnostic problems

Necrotizing enterocolitis (NEC) is a life-threatening intestinal disease characterized by severe intestinal inflammation and necrosis.It is mostly seen in premature infants (≤32 weeks of gestation). Despite the efforts of recent years toward garnering a better understanding of this disease as well as its eradication, but it has persisted and nowis one of the leading causes of mortality and morbidity in neonatal intensive care units.In the last decades the reported incidence of preterm necrotizing enterocolitis (NEC) has been declining in large part due to implementing comprehensive NEC prevention initiatives, including breast milk feeding, standardized feeding protocols, transfusion guidelines, and antibiotic stewardship and improving the rigor with which non-NEC cases are excluded.For improvements in therapies to allow preterm infants to survive, it is crucial to ensure accurate reporting of the diagnosis and gain improved insight into the true incidence of this very challenging disease.There are several reasons for this lack of progress in understanding of this disease. There is a lack of a common, comprehensive definition of NEC. There is a poor definition of what actually constitutes “NEC.” In fact, this entity probably represents several different diseases with different pathophysiologic pathways.The purpose of this review is to consider a current definition of NEC, and define adequate biomarkers which may be used to help guide clinical decision-making. Diagnostic criteria should include specific, sensitive, and accurate clinical and laboratory criteria that aid the clinician in recognizing the most classic form of this disease and differentiating it from entities such as spontaneous intestinal perforation, primary intestinal ischemia, sepsis, food protein intolerance and others

Optimizing the use of trimethoprim-sulfamethoxazole for prevention of PCP and opportunistic infections in allogeneic hematopoietic cell transplant recipients.

138 Background: Trimethoprim-sulfamethoxazole (TMP-SMX) is preferred for prevention of Pneumocystis pneumonia (PCP), toxoplasmosis and other opportunistic infections after allogeneic hematopoietic cell transplantation (HCT), but it is often withheld due to potential adverse events (AE). From July 2016-June 2017 we observed that 31% of allogeneic HCT recipients at our hospital were prescribed TMP-SMX throughout the high risk period (day +30-180). Therefore, we developed an intervention to explore reasons for such a low prescription rate and to optimize TMP-SMX use. Methods: Our institution’s HCT practice guidelines were revised to include indications for TMP-SMX and alternative agents for PCP and Toxoplasma prophylaxis and specific clinical and laboratory criteria for withholding TMP-SMX. Education on the guidelines was provided to transplant clinicians. Outpatient encounters were prospectively audited from January to April 2018. Providers received real-time feedback with recommendations in accordance with our guidelines prior to patients’ visits. Results: We reviewed 321 outpatient encounters among 112 patients. Seventy-six (68%) patients were on TMP-SMX prophylaxis at the first reviewed encounter. Cytopenias were the most common reason for withholding TMP-SMX, occurring in 50 (57%) encounters, followed by elevated liver function tests (LFTs) (13.6%), hyperkalemia (3.4%), elevated creatinine (3.4%), rash or hypersensitivity (3.4%), and unknown/other (22%) . In 73 encounters in which patients received alternative or no PCP prophylaxis, we recommended changing to TMP-SMX. This intervention was accepted in 15 patients, 11(73%) of whom tolerated TMP-SMX well. In the remaining four patients, TMP-SMX was subsequently discontinued due to unrelated AE (N = 3) and possible TMP-SMX-associated elevated LFTs (N = 1). Conclusions: Provider education and real-time feedback led to increased utilization of TMP-SMX for prevention of PCP and other opportunistic infections in HCT recipients without an increase in TMP-SMX-related adverse effects. Further study is needed to understand the low clinician acceptance rate of the intervention.

Detection of familial chylomicronemia syndrome in a cohort of patients with severe hypertriglyceridemia through a next generation sequencing approach

Aim: Familial Chylomicronemia syndrome (FCS) is a rare recessive disease caused by mutations in LPL, APOC2, APOA5, LMF1 and GPIHBP1 genes. It is characterized by very severe hypertriglyceridemia (HTG) with or without episodes of abdominal pain and recurrent acute pancreatitis. FCS diagnosis is often difficult due to its phenotypic similarity with other forms of severe hypertriglyceridemia. The aim of our study was to detect pathogenic mutations in candidate genes in patients with suspected FCS based on specific clinical criteria and evaluate clinical differences between genotypes.

Wednesday, September 26, 2018 10:35 AM – 12:00 PM Understanding Lumbar Stenosis/Spondylolisthesis: 14. Stability-preserving multilevel versus single-level decompression-only surgery for lumbar spinal stenosis: demographic patterns and outcomes

BACKGROUND CONTEXT There has been debate on the stability, and thus clinical outcomes, of multilevel lumbar decompression-only surgeries compared to those undergoing a single-level procedure. In patients with single-level stenosis, laminectomy has long been considered the standard of surgical care, with generally favorable outcomes. However, there has been considerable debate regarding the optimal surgical approach for patients with multi-level spinal stenosis. While the addition of a posterior lumbar fusion has been supported for a number of patient populations (degenerative spondylolisthesis, degenerative scoliosis, pars defects with disc disease, symptomatic baseline instability), the merits of fusion in patients with only multi-level stenosis is still debated. PURPOSE The goal of this study was to compare patient outcomes following a multi-level versus a single-level stability-preserving decompression-only surgery for lumbar spinal stenosis. STUDY DESIGN/SETTING Retrospective cohort series. PATIENT SAMPLE We performed a retrospective cohort analysis of patients who underwent a primary lumbar laminectomy between 2009 and 2015 by one of two senior orthopedic spine surgeons for lumbar spinal stenosis. Patients were excluded from analysis if they had any previous lumbar surgery, an unstable spondylolisthesis, were under 18 years of age at the time of surgery, or had postoperative follow-up less than 3 months. Patients were divided into three groups based on the number of decompression levels: single-level, two-level, or three or more levels. OUTCOME MEASURES Patient reported outcomes were obtained in the form of Oswestry Disability Index (ODI) scores, Visual Analog Scales (VAS) scores for the back and leg, 12-Item Short Form Mental and Physical Survey (SF-12) scores, and the Veterans Rand 12-Item Health Mental and Physical Survey (VR-12) scores. METHODS Baseline patient characteristics were compared using chi-squared analysis and independent sample t tests for categorical and continuous data, respectively. Bivariate and multivariate regressions were subsequently used to compare clinical outcomes between procedure groups. Multivariate analyses controlled for differences in baseline patient characteristics. RESULTS Overall, 212 consecutive patients who fulfilled our inclusion criteria were assessed. Average follow-up was 24.14 months (range 3-78 months). There were 106 patients who underwent a single-level, 74 patients underwent a two-level, and 32 patients underwent a three- or more level laminectomy. The multi-level decompression patients were significantly older (3+ levels 67.9±8.7 years, 2-level 56.4±14.7 years, single-level 48.7±16.4 years; p CONCLUSIONS Patients undergoing decompression of three or more levels present with similar postoperative outcomes to those who undergo a single-level decompression for lumbar spinal stenosis. Despite concerns for instability following a multi-level decompression, re-operation rates are low and not significantly different when comparing the number of levels that underwent a stability-preserving lumbar decompression. Under specific clinical and radiographic criteria, a multi-level decompression of three or more levels appears to be a safe and effective procedure with acceptable outcomes at 2 years after surgery. FDA DEVICE/DRUG STATUS This abstract does not discuss or include any applicable devices or drugs.

Human Epidermal Growth Factor Receptor 2 Testing in Breast Cancer: American Society of Clinical Oncology/College of American Pathologists Clinical Practice Guideline Focused Update.

To update key recommendations of the American Society of Clinical Oncology (ASCO)/College of American Pathologists (CAP) human epidermal growth factor receptor 2 (HER2) testing in breast cancer guideline. Based on the signals approach, an Expert Panel reviewed published literature and research survey results on the observed frequency of less common in situ hybridization (ISH) patterns to update the recommendations. Two recommendations addressed via correspondence in 2015 are included. First, immunohistochemistry (IHC) 2+ is defined as invasive breast cancer with weak to moderate complete membrane staining observed in >10% of tumor cells. Second, if the initial HER2 test result in a core needle biopsy specimen of a primary breast cancer is negative, a new HER2 test may (not "must") be ordered on the excision specimen based on specific clinical criteria. The HER2 testing algorithm for breast cancer is updated to address the recommended workup for less common clinical scenarios (approximately 5% of cases) observed when using a dual-probe ISH assay. These scenarios are described as ISH group 2 ( HER2/chromosome enumeration probe 17 [CEP17] ratio ≥2.0; average HER2 copy number <4.0 signals per cell), ISH group 3 ( HER2/CEP17 ratio <2.0; average HER2 copy number ≥6.0 signals per cell), and ISH group 4 ( HER2/CEP17 ratio <2.0; average HER2 copy number ≥4.0 and <6.0 signals per cell). The diagnostic approach includes more rigorous interpretation criteria for ISH and requires concomitant IHC review for dual-probe ISH groups 2 to 4 to arrive at the most accurate HER2 status designation (positive or negative) based on combined interpretation of the ISH and IHC assays. The Expert Panel recommends that laboratories using single-probe ISH assays include concomitant IHC review as part of the interpretation of all single-probe ISH assay results.