Medical Center Laboratory Research Articles

Pediatric urinary tract infections caused by poultry-associated Escherichia coli.

Escherichia coli is the leading cause of urinary tract infections (UTIs) in children and adults. The gastrointestinal tract is the primary reservoir of uropathogenic E. coli, which can be acquired from a variety of environmental exposures, including retail meat. In the current study, we used a novel statistical-genomic approach to estimate the proportion of pediatric UTIs caused by foodborne zoonotic E. coli strains. E. coli urine isolates were collected from DC residents aged 2 months to 17 years from the Children's National Medical Center Laboratory, 2013-2014. During the same period, E. coli isolates were collected from retail poultry products purchased from 15 sites throughout DC. A total of 52 urine and 56 poultry isolates underwent whole-genome sequencing, core genome phylogenetic analysis, and host-origin prediction by a Bayesian latent class model that incorporated data on the presence of mobile genetic elements (MGEs) among E. coli isolates from multiple vertebrate hosts. A total of 56 multilocus sequence types were identified among the isolates. Five sequence types-ST10, ST38, ST69, ST117, and ST131-were observed among both urine and poultry isolates. Using the Bayesian latent class model, we estimated that 19% (10/52) of the clinical E. coli isolates in our population were foodborne zoonotic strains. These data suggest that a substantial portion of pediatric UTIs in the Washington DC region may be caused by E. coli strains originating in food animals and likely transmitted via contaminated poultry meat.IMPORTANCEEscherichia coli UTIs are a heavy public health burden and can have long-term negative health consequences for pediatric patients. E. coli has an extremely broad host range, including humans, chickens, turkeys, pigs, and cattle. E. coli derived from food animals is a frequent contaminant of retail meat products, but little is known about the risk these strains pose to pediatric populations. Quantifying the proportion of pediatric UTIs caused by food-animal-derived E. coli, characterizing the highest-risk strains, and identifying their primary reservoir species could inform novel intervention strategies to reduce UTI burden in this vulnerable population. Our results suggest that retail poultry meat may be an important vehicle for pediatric exposure to zoonotic E. coli strains capable of causing UTIs. Vaccinating poultry against the highest-risk strains could potentially reduce poultry colonization, poultry meat contamination, and downstream pediatric infections.

Assemblage characterization of Giardia duodenalis in South Khorasan province, eastern Iran, using HRM real-time PCR method.

Giardia duodenalis is a common parasitic protozoan causing gastrointestinal illness in humans worldwide. The genetic diversity of G. duodenalis is reflected through the identification of different assemblages. In this study, we aimed to determine the assemblages of G. duodenalis in eastern Iran using nested-PCR and high-resolution melting (HRM) real-time PCR methods. A total of 58 positive G. duodenalis, which were isolated from 1800 subjects, referred to medical center laboratories in South Khorasan province, eastern Iran, from April 2020 to March 2022, were included in this study. DNA was extracted and HRM real-time PCR was performed for assemblage characterization. HRM real-time PCR successfully characterized all samples. Accordingly, out of 58 positive samples, 53 (91.36%) and 5 (8.62%) were identified as assemblage A and B, respectively. Our findings showed that HRM real-time PCR was able to characterize the assemblages of G. duodenalis. In addition, our results suggest high prevalence of assemblage A in eastern region of Iran.

Study of Genetic Drifts in Some Fat Mass and Obesity Associated Gene Variatiants in Type 2 Diabetics in Some Ethinic Groups Residing in Delta State, Nigeria

Aim: Detailing and distribution of some predominant FTO genes among subjects with diabetes mellitus selected from Igbo, Ika, Ijaw and Isoko tribes of Delta state, Nigeria.
 Study Design: Case-control, observational study.
 Place and Duration of Study: Federal Medical Center, Asaba, Delta State and Safety Molecular Pathology Laboratory Enugu, Nigeria, between March 2020 and Febuary 2022.
 Methodology:100 subjects (20 diabetic and 5 non diabetic from each of the four tribes; age range; 28-74 years) Venous blood was collected for the assay of FBS, Hb1ac and molecular assay of four variants of FTO (Fat Mass and Obesity Associated) gene. Results obtained were statistically analysed.
 Result: The genotypes identified in the subjects were AA, GA, GG, AC, CC, TT, and AT. AA (Ijaw 17, Urhobo 18, Ika 18, Igbo 19) and GG (Ijaw 17, Urhobo 18, Ika 19, Igbo 18) had highest level of occurrence in all tribes. Recombinant genotype and recessive allele had higher number of subjects as compared to the originating genotypes. Hardy- Weinberg statistics demonstrated significant genetic deviations in rs2388405(AA -0.12 x2 =0.0002, GA 0.12 x2=0.002) rs201041270(GG-0.12 x2 =0.0002, GA 2.12 x2=0.002), and rs8050136 (CC -0.34 x2 =0.001, AC 2.32, x2=0.05) proving a chance of finding new SNP in the studied population with a probability of 2.25 as seen in the odd ratio of T allele in Igbo tribe.
 Conclusion: Statistically significant genetic drifts exist in the studied population.

A-135 Improving Cell Count Turnaround Times With the GloCyte® Automated Cell Counter for CSF: A Retrospective Study at MercyOne Des Moines Medical Center

Abstract Background Accurate, STAT cerebrospinal fluid (CSF) cell counts are critical in the diagnosis of meningitis, malignancy, demyelinating disease, and hemorrhage. Due to historical limitations with the linearity of automated analyzers, CSF cell counts have traditionally been performed manually with a hemocytometer and the aid of a brightfield optical microscope. Manual cell counting is time-consuming, subjective due to reliance on human interpretation, and requires a high degree of skill. This poses significant challenges for clinical laboratories of all sizes facing unprecedented med tech shortages. The purpose of this study was to evaluate the impact of implementing the GloCyte Automated Cell Counter for CSF, an FDA-cleared device with linearity down to 0 cells/µL, on result turnaround times. Methods Result turnaround time data for CSF specimens processed in the hematology lab at MercyOne Des Moines Medical Center, a 600-bed hospital in Des Moines, Iowa, was analyzed in a retrospective study of two cell counting methods- (1) manual cell counting using a Neubauer-Improved hemocytometer and (2) GloCyte, a benchtop cell counting device that uses fluorescence technology and highly specific reagents to automate RBC and TNC cell counts in less than 5 min. Turnaround times for 227 CSF specimens counted manually during an approximately six-month period prior to the implementation of GloCyte (January 2, 2017 to June 29, 2017) were compared to those for 133 specimens analyzed on GloCyte over a similar duration (January 4, 2021 to June 30, 2021). In this study, turnaround times were defined as the time between specimen arrival in the lab and result verification. Correlation between the methods was previously established in the MercyOne Des Moines Medical Center laboratory. Results The data demonstrated a significant, 16–30-minute improvement in turnaround times with GloCyte compared to the manual hemocytometer method. Median turnaround times, analyzed to adjust for add-ons that resulted in longer turnaround times pre- and post-GloCyte implementation, were 1:38h for specimens counted manually vs 1:08 h for specimens analyzed on GloCyte. The average turnaround time for the 227 CSF specimens counted manually was 2:03 h compared to 1:46 h for the 133 samples analyzed on GloCyte. The MercyOne Des Moines Medical Center laboratory processed 456 CSF cell counts in 2022, equating to a reduction in turnaround time of 122–228 h annually with the implementation of GloCyte. Conclusion This study demonstrates that GloCyte can be implemented to significantly improve turnaround times for CSF cell counts. The MercyOne Des Moines Medical Center laboratory realized several benefits from the reduction in turnaround times- GloCyte has (1) freed up significant tech time for other tasks, (2) standardized CSF cell counting to mitigate tech to tech variability, (3) increased lab staff satisfaction and decreased stress levels, and (3) increased physician satisfaction. For MercyOne Des Moines Medical Center’s sister site, MercyOne West Des Moines Medical Center, a 146-bed hospital that infrequently performs CSF cell counts, GloCyte has provided peace of mind in performing cell counts accurately with techs of all skill levels.

In vitro activity of ceftaroline, ceftazidime-avibactam, and comparators against Gram-positive and -negative organisms in China: the 2018 results from the ATLAS program

BackgroundData on antibiotic resistance is essential to adapt treatment strategies against the rapidly changing reality of antimicrobial resistance.ObjectiveTo study the in vitro activity of ceftaroline, ceftazidime-avibactam, and comparators against Gram-positive and Gram-negative bacteria collected from China in the year 2018.MethodsA total of 2301 clinical isolates were collected from 17 medical center laboratories in China, which participated in the ATLAS program in 2018. Antimicrobial susceptibilities were determined by the broth microdilution method at a central laboratory. Clinical and Laboratory Standards Institute (CLSI) breakpoints were used to interpret the results except for tigecycline, for which the US Food and Drug Administration (FDA) breakpoint were used.ResultsThe susceptibility rates of methicillin-resistant Staphylococcus aureus (MRSA), penicillin-resistant Streptococcus pneumoniae (PRSP), and β-hemolytic streptococcus to ceftaroline were 83.9%, 100%, and 100%, respectively. Escherichia coli, imipenem-susceptible (IMP-S) Escherichia coli, Klebsiella pneumoniae, Enterobacter cloacae, IMP-S Enterobacter cloacae, Proteus mirabilis, Morganella morganii, Serratia marcescens and Pseudomonas aeruginosa had high susceptibility rates to ceftazidime-avibactam (95.8%, 100%, 97.7%, 94.5%, 100%, 90.2%, 96.0%, 97.5% and 90.7%, respectively). However, imipenem-resistant Escherichia coli and imipenem-resistant Pseudomonas aeruginosa demonstrated low susceptibility to ceftazidime-avibactam (33.3% and 75.8%, respectively). Against MRSA, methicillin-susceptible Staphylococcus aureus (MSSA), S. pneumoniae and β-hemolytic streptococci, the susceptibility rates of tigecycline were 93.5%, 99.2%, 100% and 100%, respectively. Levofloxacin also showed high in vitro activity against S. pneumoniae and β-hemolytic streptococci with a susceptibility rate of 100% and 98.4%. The susceptibility rate of E. faecalis to ampicillin was 100%. Among Gram-negative isolates, tigecycline and colistin showed good activity against E. coli, K. pneumoniae, imipenem-resistant E. cloacae, C. freundii and A. baumannii (susceptibility rates and intermediate susceptibility rates of 99.3% and 96.8%, 95.4% and 94.5%, 100% and 87.5%, 96.4% and 89.3%, MIC90 of 2 mg/L and 97.4%, respectively). E. coli and E. cloacae had high susceptibility rates to imipenem and meropenem (93.0% and 92.8%, 89.8% and 92.1%, respectively). M. morganii and P. mirabilis demonstrated meropenem and piperacillin-tazobactam susceptibility rates of 96.0% and 94.0%, 94.1% and 92.2%, respectively.ConclusionCeftaroline showed good activity among tested antimicrobial agents against Gram-positive species, while ceftazidime-avibactam had good activity against Escherichia coli, Klebsiella pneumoniae, Enterobacter cloacae, Proteus mirabilis, Morganella morganii, Serratia marcescens and Pseudomonas aeruginosa excluding carbapenem-resistant isolates.

Encoding laboratory testing data: case studies of the national implementation of HHS requirements and related standards in five laboratories.

ObjectiveAssess the effectiveness of providing Logical Observation Identifiers Names and Codes (LOINC®)-to-In Vitro Diagnostic (LIVD) coding specification, required by the United States Department of Health and Human Services for SARS-CoV-2 reporting, in medical center laboratories and utilize findings to inform future United States Food and Drug Administration policy on the use of real-world evidence in regulatory decisions.Materials and MethodsWe compared gaps and similarities between diagnostic test manufacturers’ recommended LOINC® codes and the LOINC® codes used in medical center laboratories for the same tests.ResultsFive medical centers and three test manufacturers extracted data from laboratory information systems (LIS) for prioritized tests of interest. The data submission ranged from 74 to 532 LOINC® codes per site. Three test manufacturers submitted 15 LIVD catalogs representing 26 distinct devices, 6956 tests, and 686 LOINC® codes. We identified mismatches in how medical centers use LOINC® to encode laboratory tests compared to how test manufacturers encode the same laboratory tests. Of 331 tests available in the LIVD files, 136 (41%) were represented by a mismatched LOINC® code by the medical centers (chi-square 45.0, 4 df, P < .0001).DiscussionThe five medical centers and three test manufacturers vary in how they organize, categorize, and store LIS catalog information. This variation impacts data quality and interoperability.ConclusionThe results of the study indicate that providing the LIVD mappings was not sufficient to support laboratory data interoperability. National implementation of LIVD and further efforts to promote laboratory interoperability will require a more comprehensive effort and continuing evaluation and quality control.

Serologic Monitoring of the Toxoplasmosis in Pregnant Women in Brazzaville, Congo

Objectives: The objective of this work was to determine the immune status by researching antitoxoplasmic IgG and IgM. Methods: this is a prospective study from November 4, 2013 to April 4, 2014 carried out at the Exau Kenn medical center laboratory located opposite the Makelekele Base Hospital (I Brazzaville district). A toxoplasmic serology was taken from all pregnant women (first trimester) admitted to the Laboratory as part of a medical follow-up of their pregnancies. Serodiagnosis was performed by the agglutination technique associated with the indirect solid phase immunoenzymatic technique (EIA). Results: Of 139 pregnant women included in our study, 56.12% were immunized and 43.88% unimmunized. The seroprevalence was 69.04%. The percentage of women aged under 20 was 22.22%; and those between 20 and 39 years old was 46.77%; then 31.01% among those over 39 years of age. The risk factors incriminated in toxoplasmic infection for our study were: contact with soil, consumption of raw vegetables, level of hygiene and contact with cats. Conclusion: toxoplasmosis in pregnant women in Brazzaville is a real problem that must be regularly revealed in order to put in place an action plan to identify and evade it.

INCIDENCE OF INFLUENZA VIRUS PNEUMONIA DURING THE TIME OF CORONOVIRUS-2019 PANDEMIC

TOPIC: Chest Infections TYPE: Original Investigations PURPOSE: Since the beginning of coronarvirus-2019 pandemic, prevention has been the core measure to mitigate the spread of the virus. Prevention measures included universal masking, frequent hand sanitization, and social distancing are among the measures that proved to be effective. However, these measures are also known to be effective against transmission of influenza virus. We hypothesize that during the times of Covid-19 pandemic, the incidence of influenza pneumonias will also decrease. METHODS: We utilized the Jersey Shore University Medical Center Laboratory database to identify the number of influenza tests sent before and during the pandemic. We extracted the data over the last six months in 2019 to represent the pre-pandemic period and compared them to the data of the last six months in the year of 2020 to represent the during-pandemic period. In addition, we compared the rate of decrease in monthly incidences of Influenza cases between Feb-April 2020 in our hospital (when preventive measures were applied state wide in NJ) to Feb-April of 2017 in the Mid-Atalatnic District (obtained from the Healthcare Cost and Utilization Project National Inpatient Sample 2017) to better elicit the effect of preventive measures as opposed to the natural course. RESULTS: During the last six months of 2019, there was a total of 10,304 flu tests sent inpatient. Of them, 674 tests were positive (6.5%). In comparison, there was a total of 5,406 total tests of influenza A and B sent during the last six months of year 2020; among them, only 1 case was positive (0.02%). Relative risk was 0.003. By examining the Mid-atalantic district trend of monthly incidences of influenza, it appears that influenza cases in all hospitalizations decreased from 2.5% in Feburary 2017 to 1.2% in March 2017 to 0.7% in April 2017 (Monthly decrease of 40-50%); while the incidence in our hospital decreased from 9.6% in Feburary 2020 to 2.7% in March 2020 to 0.7% (Monthly decrease of 70-75%). CONCLUSIONS: The incidence of influenza virus pneumonia has decreased significantly during the time of Covid-19 pandemic, likely due to widely encouraged preventive measures. CLINICAL IMPLICATIONS: Masking, frequent hand sanitization and social distancing proved to be very effective in reducing the incidence of influenza pneumonia. Preventive measures may be adopted in patients with high risk of mortality from influenza pneumonia, even if Covid-19 pandemic resolves. DISCLOSURES: No relevant relationships by Abbas Alshami, source=Web Response No relevant relationships by Steven Douedi, source=Web Response No relevant relationships by Ali Nadhim, source=Web Response No relevant relationships by Swapnil Patel, source=Web Response No relevant relationships by Daniel Shenouda, source=Web Response No relevant relationships by Joseph Varon, source=Web Response

The Effect of Long-Term High Protein, Low Carbohydrate, and Low Fat Diet in CKMB Enzymes and Troponin T in Male Wistar Rats

Obesity is one of the diseases caused by unhealthy eating patterns and diets. An unhealthy diet can increase cholesterol levels in the blood which will then accumulate on the inner walls of blood vessels, causing atherosclerosis. This study aims to determine the effect of long-term high-protein, low-carbohydrate and low-fat diet on heart function by examining male CKMB &amp; Troponin T levels of Rattus Norvegicus. This research was conducted experimentally in a laboratory with a Post-Test Control Design Group research design. The number of samples was 20 male wistar rats and divided into two groups (standard feed group) and the TPRKRL diet (high protein, low carbohydrate, low fat diet group). Blood was examined in the Hasanuddin University medical research center laboratory using the ELIZA method. The analysis used to determine the difference between the two groups was the Maan-Whitney test. The results showed that the macronutrient composition of the high-protein diet had significantly higher protein content and percentage and lower carbohydrates (protein 78.25% vs. 15.25%; CHO 10.5% vs. 52.2%) compared to the standard feed composition. Meanwhile, post-intervention blood and organ Troponin T levels in the treatment group were 25.45 ± 1.80 and 1022.52 ± 447.89 pg/ml, respectively. And post-intervention blood and organ Troponin T levels in the control group were 23.99 ± 1.24 and 1117.56 ± 324.44 pg/ml. The TPRLLK diet was able to significantly reduce body weight compared to the standard diet and the TPRLLK diet did not increase the enzyme markers of heart damage.

The Essential Oil Content of Salvia Offıcınalıs in Konya Grown

Sage has been used for centuries as a sacred herb in Roman rituals to extend life, especially in china. The positive effects of the plant on health have been described frequently from the ancient Roman period until the middle ages. It is used for the treatment of bronchial infections, colds and cough. It is also traditionally used to relieve gastraintestinal symptoms such as dyspepsia, gas, indigestion, bloating. In the treatment of excessive sweating in menopause. It has been shown to be effective. Its effectiveness is used as a mouthwash in the irritation of the oral mucosa as well as in pharyngitis, tonsillitis, gingivitis, glossitis infections. These teas used in treatment are prepared as infusion, decoction and cold maceration. S. officinalis plant grown in July Organic Farm in Akyokuş region in Konya province was used. The analyzes were carried out in the Western Mediterranean Agricultural Research Institute Directorate Medical and Aromatic Plants Center Laboratory in 2017. Approximately 20 g of dried plant material prepared for analysis. The sample is weighed. The weighed sample is placed in the glass clevenger flask. Approximately 10 times (200 ml) of pure water is added to the sample. It is subjected to hydrodistilation process for about 2 hours. Then the reading of the essential oil sample, which accumulates in the graduated part and creates a phase difference with water, is taken and the result is recorded in ml. Then, based on the weight, the amount of essential oil is calculated as a percentage. In our study, α-tujone 24.48%, camphor 16.45.1.8% cineol 12.38%, while viridiflorol was found as 6.5%. We think that the differences may be due to differences in geographical regions and precipitation. Ventilatory oil ratios have been shown in course studies that ontogenetic factors can also be affected by many factors.

Reduction in Sporadic Norovirus Infections Following the Start of the COVID-19 Pandemic, 2019-2020, Philadelphia.

IntroductionNorovirus infections are common in the USA and worldwide. Detection of norovirus in fecal samples is now common in routine tests for enteric pathogens using molecular methods. We observed a change in positivity rates for norovirus after the beginning of the coronavirus disease 2019 (COVID-19) pandemic in our laboratory and performed a more detailed analysis of testing results.MethodsWe reviewed the positivity rates for detection of common enteric pathogens from stool samples submitted to an academic medical center laboratory pre (2016–2019) and post the start of the COVID-19 pandemic (2020).ResultsIn contrast to other enteric pathogens, norovirus positivity rates dropped dramatically from a yearly average of 3.9% in 2016–2019 to 0.76% from March 2020 through the end of 2020.ConclusionA sustained reduction in norovirus positivity rates was temporally associated with COVID-19 mitigation processes in the Philadelphia area, while positivity rates for other common enteric pathogens were only intermittently reduced.

The Israel National Sera Bank: Methods, Representativeness, and Challenges.

The Israel National Sera Bank (INSB) was established in 1997 in the Israel Center for Disease Control. The purpose of the INSB was to provide policymakers with data on the immunity status of the Israeli population against vaccine-preventable diseases, and on the extent and characteristics of exposure to emerging and re-emerging infectious diseases. The aim of this paper is to describe the methods, representativeness, and challenges in maintaining the INSB. The INSB comprises residual sera collected in six laboratories. By the end of 2019, 138,898 samples had been deposited in the INSB. These include samples from four community laboratories: 30.7% from the National Blood Service, 22.2% from Haifa and the Western Galilee, 21.7% from Soroka, and 0.7% from Jerusalem; and from two medical center laboratories: 18.6% from Schneider and 6.1% from Mayanei Hayeshua. The demographic characteristics of the sample at the end of 2019 closely resembled those of the general population. The main challenges addressed in maintaining the INSB relate to its representativeness, the possibility of repeated donors, costs, stability of antibody levels after long-term storage, ethical aspects, and the data available for each sample. The INSB is a unique, powerful, and necessary tool for assessing population immunity levels, based on serum samples collected over a long period of time.

Evaluation of Patients Referred to Children's Medical Center Laboratory for Diagnosis of Mucopolysaccharidoses: Eight Years' Experience from Iran

AbstractMucopolysaccharidoses (MPSs) are rare lysosomal storage diseases, resulting from deficiencies of enzymes responsible for Glycosaminoglycans (GAGs) degradation. This leads to accumulation of GAGs in tissues and their excretion in urine, with a wide variety of manifestations. Early diagnosis of MPSs is strictly recommended due to available therapy that can slow down disease progression during the early ages. This study aimed to evaluate patients with suspected MPS referred to Children's Medical Center laboratory over eight years. We also evaluated the usefulness of urine GAG as a screening test for identification of such patients. A total of 1414 patients (40% female, 60% male, with mean age 3.1 ± 4.1years) have participated in this study. The urinary GAG analysis (uGAG) was performed by 1, 9-dimethyl-methylene blue (DMMB) and Berry spot test (BST). All patients with positive and mild positive results or with disease-related symptoms were evaluated in terms of definitive diagnosis, received treatments, morbidity, and mortality rate. In 407 (36.5%) patients uGAG were positive or mild positive, of which 26.3% suffered from one of the types of MPSs, 28.5% suffered from other diseases, 32.9% were undiagnosed, 12.3% were apparently healthy, and 19 died. The negative predictive value of uGAG test in our study was 100%. About 21% of MPSs patients received enzyme replacement therapy, while four patients underwent stem cell transplants. The rest received supportive care. We concluded that a combination of DMMB and BST methods has acceptable sensitivity for screening suspicious MPS patients.

All Hands-On Deck and All Decks on Hand: Surmounting Supply Chain Limitations During the COVID-19 Pandemic

Testing during the COVID-19 pandemic has been crucial to public health surveillance and clinical care. Supply chain constraints—spanning limitations in testing kits, reagents, pipet tips, and swabs availability—have challenged the ability to scale COVID-19 testing. During the early months, sample collection kits shortages constrained planned testing expansions. In response, the University of Vermont Medical Center, University of Vermont College of Medicine, Vermont Department of Health Laboratory, Aspenti Health, and providers across Vermont including 16 area hospitals partnered to surmount these barriers. The primary objectives were to increase supply availability and manage utilization. Within the first month of Vermont’s stay-at-home order, the University of Vermont Medical Center laboratory partnered with College of Medicine to create in-house collection kits, producing 5000 per week. University of Vermont Medical Center reassigned 4 phlebotomists, laboratory educators, and other laboratory staff, who had reduced workloads, to participate (requiring a total of 5.3-7.6 full-time equivalent (FTE) during the period of study). By August, automation at a local commercial laboratory produced 22,000 vials of media in one week (reducing the required personnel by 1.2 FTE). A multisite, cross-institutional approach was used to manage specimen collection kit utilization across Vermont. Hospital laboratory directors, managers, and providers agreed to order only as needed to avoid supply stockpiles and supported operational constraints through ongoing validations and kit assembly. Throughout this pandemic, Vermont has ranked highly in number of tests per million people, demonstrating the value of local collaboration to surmount obstacles during disease outbreaks and the importance of creative allocation of resources to address statewide needs.

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy.

The MT-TL1 gene codes for the mitochondrial leucine transfer RNA (tRNALeu(UUR) ) necessary for mitochondrial translation. Pathogenic variants in the MT-TL1 gene result in mitochondriopathy in humans. The m.3250T>C variant in the MT-TL1 gene has been previously associated with exercise intolerance and mitochondrial myopathy, yet disease classification for this variant has not been consistently reported. Molecular studies suggest the m.3250T>C variant does not alter tRNALeu(UUR) structure but may have a modest impact on aminoacylation capacity. However, functional studies are limited. Our study aimed to further define the clinical presentation, inheritance pattern, and molecular pathology of the m.3250T>C variant. Families with the m.3250T>C variant were recruited from the Mitochondrial Disease Clinic at Cincinnati Children's Hospital Medical Center and GeneDx laboratory database. Affected individuals most frequently presented with cardiac findings, exercise intolerance, and muscle weakness. Hypertrophic cardiomyopathy was the most frequent cardiac finding. Many asymptomatic individuals had homoplasmic or near homoplasmic levels of the m.3250T>C variant, suggesting the penetrance is incomplete. Patient-derived fibroblasts demonstrated lowered ATP production and increased levels of reactive oxygen species. Our results demonstrate that the m.3250T>C variant exhibits incomplete penetrance and may be a possible cause of cardiomyopathy by impacting cellular respiration in mitochondria.

3q29 microduplication syndrome: Clinical and molecular description of eleven new cases

Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort.

Effect of High Atmospheric Carbon Dioxide Concentrations on the Serum Total Carbon Dioxide Measurement

Background: Serum total carbon dioxide (TCO₂) measurements are easily affected by numerous factors. Whether an irregularly high atmospheric CO₂ concentration affects the TCO₂ measurement remains unclear. Materials and Methods: In Somdech Phra Debaratana Medical Center laboratory (SDMC) and the main building laboratory (Building 1) located within Ramathibodi Hospital, Mahidol University, Bangkok, Thailand, the repeated TCO₂ measurements using an enzymatic assay in three levels of human based control material were performed every two hours, over a one-day period. TCO₂ in a total of 150 patient sera were measured. Simultaneously, atmospheric CO₂ levels were determined. Results: Atmospheric CO₂ levels in SDMC and Building 1, ranged from 763 to 1,560 ppm and 602 to 787 ppm, respectively. Repeated TCO₂ measurements for SDMC, the measured TCO₂ concentrations of all control materials clearly increased between 10:00 a.m. and 4:00 p.m., with the peak at 2:00 p.m., which was related to an increase in the atmospheric CO₂ concentration. By contrast, in Building 1, the measurements were considerably stable. Moreover, considering patient data (n=12,042), the estimate median TCO₂ concentration in SDMC was likely to increase between 10:00 a.m. to 4:00 p.m. as well. The association between the bias (y), difference TCO₂ concentration obtained between the SDMC and the Building 1, and the increasing atmospheric CO₂ (x) was y = 0.0038x – 0.016, R²=0.6813. Using regression equations, TCO₂ level increased by approximately 0.4 mmol/L for every 100 ppm of CO₂ increase in atmosphere. Conclusion: High atmospheric CO₂ concentrations can result in falsely high TCO₂ values, which may lead to markedly wrong interpretations, especially in patients with a tendency to have low TCO₂ concentrations. Keywords: Serum total carbon dioxide, Atmospheric carbon dioxide, Acid-base disorder

High-Risk Lower-Extremity Biomechanics Evaluated in Simulated Soccer-Specific Virtual Environments.

Laboratory-based biomechanical analyses of sport-relevant movements such as landing and cutting have classically been used to quantify kinematic and kinetic factors in the context of injury risk, which are then used to inform targeted interventions designed to improve risky movement patterns during sport. However, the noncontextual nature of standard assessments presents challenges for assessing sport-relevant skill transfer. To examine injury-risk biomechanical differences exhibited by athletes during a jump-landing task performed as part of both a standard biomechanical assessment and a simulated, sport-specific virtual reality (VR)-based assessment. Observational study. Medical center laboratory. Twenty-two female adolescent soccer athletes (age = 16.0 [1.4]y, height = 165.6 [4.9]cm, and weight = 60.2 [11.4]kg). The landing performance was analyzed for a drop vertical jump task and a VR-based, soccer-specific corner-kick scenario in which the athletes were required to jump to head a virtual soccer ball and land. Hip, knee, and ankle joint kinematic differences in the frontal and sagittal planes. Athletes exhibited reduced hip and ankle flexion, hip abduction, and frontal plane ankle excursion during landing in realistic sport scenario compared with the standard drop vertical jump task. VR-based assessments can provide a sport-specific context in which to assess biomechanical deficits that predispose athletes for lower-extremity injury and offer a promising approach to better evaluate skill transfer to sport that can guide future injury prevention efforts.

Dissemination of the Methicillin-resistant Staphylococcus aureus Pediatric Clone (ST5-T002-IV-PVL+) as a Major Cause of Community-associated Staphylococcal Infections in Bedouin Children, Southern Israel.

Pediatric community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) infections are emerging worldwide. High CA-MRSA carriage rates were previously described in healthy Bedouin children. We assessed demographic, clinical and molecular characteristics of pediatric MRSA infections in southern Israel. The Soroka University Medical Center laboratory serves the entire population of southern Israel, divided into 2 ethnic groups, Bedouins and Jews. All in-hospital MRSA clinical isolates from children 0 to 18 years old obtained in 2016 were included. Health care-associated and community-associated infections were defined according to the Centers for Disease Control and Prevention case definition. All isolates were evaluated for staphylococcal cassette chromosome, Panton-Valentine leukocidin, S. aureus protein A type, pulsed field gel electrophoresis and antimicrobial susceptibility testing. Overall, 95 MRSA isolates (18% of all S. aureus), with 25 different MRSA strains, were identified. Twenty-eight isolates (29.5% of MRSA) belonged to the pediatric clone, rarely observed in Israel, staphylococcal cassette chromosome IV, Panton-Valentine leukocidin positive, S. aureus protein A type 002. All isolates demonstrated identical pulsed-field-gel-electrophoresis fingerprints. Eighty-two percent of infections caused by this clone were community-acquired, mainly observed in young Bedouin children, causing skin and soft-tissue infections. The new clone infection characteristics were similar to those of other CA-MRSA. All isolates of the pediatric clone were susceptible to trimethoprim/sulfamethoxazole, ciprofloxacin, gentamicin, tetracycline, rifampicin and vancomycin; 17.8% were nonsusceptible to erythromycin and clindamycin. The pediatric CA-MRSA clone, previously described only in sporadic cases in Israel, is emerging among healthy, young Bedouin children, typically causing skin and soft-tissue infections. Isolates are susceptible to a variety of non-beta-lactam antibiotics.

666. Human Granulocytic Anaplasmosis and Ehrlichiosis Presenting to an Upstate New York Emergency Department

BackgroundHuman granulocytic anaplasmosis (HGA) is an increasingly common tickborne infection in the North-East United States. Statewide incidence of human cases of anaplasmosis in New York (excluding New York City) increased 407% from 2010–2017, with a corresponding increase in Anaplasma phagocytophilum prevalence in ticks. While previous observational studies have described the clinical features of HGA, there has been little documentation of HGA diagnosed in the emergency department (ED) setting.MethodsDemographic and clinical data were extracted from electronic records of cases with a positive polymerase chain reaction (PCR) for HGA or the closely related clinical entity ehrlichiosis from 2016 to 2017. HGA and ehrlichiosis PCR were performed by the Albany Medical Center laboratory on patients treated in the ED. Basic descriptive analyses were performed.ResultsDuring the 2-year period, there were 37 cases of PCR-positive HGA and four cases of PCR-positive ehrlichiosis treated in the ED. Electronic data were available for extraction for 40 of these cases. Mean age was 54 years old (range 7–94 years). Thirty-four (85%) patients presented with fever, and 9 (23%) reported a tick bite or tick exposure. Twenty-two (55%) patients had leukopenia; 32 (80%) thrombocytopenia; 26 (65%) hyponatremia; 24 (60%) elevated transaminases; 38 (95%) at least one of these laboratory abnormality; and 13 (33%) all four laboratory abnormalities. Twenty-four patients (60%) were given the empiric diagnosis of a tickborne illness upon disposition from the ED, with 19 (48%) patients admitted to the hospital.ConclusionTo our knowledge, this study represents the first description of patients diagnosed with HGA (and ehrlichiosis) in the ED setting. Because of the inherent testing bias, further study is needed to establish the true ED prevalence of HGA in highly endemic regions. Notably, only 23% reported either a tick bite or tick exposure, highlighting the need to consider this for diagnosis in patients presenting to the ED with consistent symptoms and laboratory findings in endemic areas. Further study might explore whether there exists a collection of laboratory findings that could accurately identify HGA in ED patients.Disclosures All authors: No reported disclosures.