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Combined factor VII (FVII) and factor X (FX) deficiency is a rare bleeding disorder that can be easily misdiagnosed as the laboratory findings can mimic congenital FVII deficiency, vitamin K deficiency or disseminated intravascular coagulation. Initial screening FISH results limited to the centromeric region of chromosomes 13, 18, 21, X and Y were normal; however, results from a high-resolution g-banded chromosome analysis were abnormal showing a probable partial duplication of chromosome 13q14-13q33. In this case, the TEG was normal and goes along with both the mild bleeding phenotype in this patient and the mild or asymptomatic phenotype of the patients with combined FVII and FX deficiency reported in the literature. [Extracted from the article]

OBJECTIVE: Project RESPECT's brief risk reduction counseling (BRRC) reduced sexual risk and bacterial STIs among at-risk heterosexuals and has been packaged for use with this population. We assessed BRRC's efficacy with RESPECT participants who used drugs and examined BRRC's applicability to present-day users of heroin, cocaine, speedball, or crack. METHODS: We compared baseline demographic and economic variables, risk behaviors, and prevalence and correlates of bacterial STIs for ever-injectors ([EIs], N=335) and never-injectors ([NIs], N=3963). We assessed changes in risk behaviors and bacterial STIs for EIs and NIs at 12 months. We compared prevalence of HSV-2, hepatitis B core antigen virus (HBV), hepatitis C virus (HCV), and trichomonas among EIs with recently reported rates among drug users. RESULTS: At baseline, 19% of EIs and 29% of NIs had bacterial STIs. Both groups had similar baseline STI correlates. At 12 months, 4% of EIs and 7% of NIs had bacterial STIs. Twelve-month cumulative incidence of bacterial STIs in BRRC was 21% lower among EIs and 18% lower among NIs compared to the informational condition. At 12 months, EIs reported fewer sexual risk behaviors than at baseline. Baseline positivity rates of trichomoniasis in EIs (female: 15%) and in male and female EIs of HSV-2 (39%, 68%), HBV (41%, 37%), and HCV (60%, 58%) were similar to rates in present-day drug users. CONCLUSION: Efficacy of BRRC in reducing sexual risk and bacterial STIs in EIs, and similar profiles for EIs and present-day drug users suggest evaluating BRRC with present-day drug users. [ABSTRACT FROM AUTHOR]

There is little evidence that body size alters exogenous glucose oxidation rates during exercise. This study assessed whether larger people oxidize more exogenous glucose during exercise than smaller people. Fifteen cyclists were allocated into two groups based on body mass (SMALL, <70 kg body mass, n = 9, two females) or (LARGE, >70 kg body mass, n = 6) matched for lactate threshold (SMALL: 2.3 ± 0.4 W/kg, LARGE: 2.3 ± 0.3 W/kg). SMALL completed 120 min of cycling at 95% of lactate threshold1. LARGE completed two trials in a random order, one at 95% of lactate threshold1 (thereby exercising at the same relative intensity [RELATIVE]) and one at an absolute intensity matched to SMALL (ABSOLUTE). In all trials, cyclists ingested 90 g/hr of 13C-enriched glucose. Total exogenous glucose oxidation was (mean ± SD) 33 ± 8 g/hr in SMALL versus 45 ± 13 g/hr in LARGE-RELATIVE (mean difference: 13 g/hr, 95% confidence interval [2, 24] g/hr, p = .03). Large positive correlations were observed for measures of exogenous carbohydrate oxidation versus body size (body mass, height, and body surface area; e.g., body surface area vs. peak exogenous glucose oxidation, r = .85, 95% confidence interval [.51, .95], p < .01). When larger athletes reduced the intensity from RELATIVE to ABSOLUTE, total exogenous glucose oxidation was 39 ± 7 g/hr (p = .43 vs. LARGE-RELATIVE). In conclusion, the capacity for exogenous glucose oxidation is, on average, higher in larger athletes than smaller athletes during exercise. The extent to which this is due to higher absolute exercise intensity requires further research, but body size may be a consideration in tailoring sports nutrition guidelines for carbohydrate intake during exercise.

We report a case of moderately severe acute pancreatitis, hyperglycemia, acidosis, splenic, superior mesenteric, and portal vein thrombosis in relation to multisystem inflammatory syndrome in children (MIS-C). The patient responded well to intravenous immune globulin, corticosteroids, antibiotics, systemic anticoagulation, and drainage of peripancreatic fluid. The case highlights the polymorphic presentation of MIS-C and advises high level of suspicion for unusual, severe cases unresponsive to routine care., Competing Interests: The authors declare no conflict of interest., (© 2024 The Author(s). JPGN Reports Published by Wiley Periodicals LLC. on behalf of the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)

Competing Interests: JD and KH were mentees of the Scrubs & Heels MMP 2022. DS is the founder of and Executive Coach for GutGirlMD, and the professional coach for the Scrubs & Heels MMP. DS is a US Government employee; the contents of this Comment do not represent the views of the US Department of Veterans Affairs or the US Government. AA and AC are co-founders of Scrubs & Heels. The Scrubs & Heels MMP 2022 received funds from Janssen Pharmaceuticals; Janssen Pharmaceuticals had no role in any aspect of the design and execution of the MMP.

Extensive research has demonstrated disparities in health outcomes and survival between non-Hispanic Caucasian (NHC) and non-Caucasian or Hispanic (minority) persons with cystic fibrosis (CF) in the United States (US). However, very little research has been done to explore the disease experiences of racial and ethnic minority persons with CF. Adult subjects with CF were approached for study participation and to characterize their experiential disease perceptions. Survey data were analyzed using Chi-Square tests and Mann-Whitney U -test for basic categorical and continuous variables, and Kruskal-Wallis one-way ANOVA using ranks for Likert scales. Minority persons reported significantly lower scores (more negative experience) when comparing themselves to others with CF (15.18 ± 2.89 vs 18.40 ± 3.18, P  < .01), particularly in the areas of representation in research, experience, and support. We were able to identify the unique experiences of minority persons with CF, including perceived lower disease understanding and poorer representation compared to most others with CF. Further large studies are needed to develop and assess interventions that may be useful for serving these diverse populations., Competing Interests: Declaration of Conflicting Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2022.)

Introduction: Over the past five decades, the diagnosis and management of children with various malignancies have improved tremendously. As a result, an increasing number of children are long-term cancer survivors. With improved survival, however, has come an increased risk of treatment-related cardiovascular complications that can appear decades later., Areas Covered: This review discusses the pathophysiology, epidemiology and effects of treatment-related cardiovascular complications from anthracyclines and radiotherapy in pediatric lymphoma survivors. There is a paucity of evidence-based recommendations for screening for and treatment of cancer therapy-induced cardiovascular complications. We discuss current preventive measures and strategies for their treatment., Expert Opinion: Significant cardiac adverse effects occur due to radiation and chemotherapy received by patients treated for lymphoma. Higher lifetime cumulative doses, female sex, longer follow-up, younger age, and preexisting cardiovascular disease are associated with a higher incidence of cardiotoxicity. With deeper understanding of the mechanisms of these adverse cardiac effects and identification of driver mutations causing these effects, personalized cancer therapy to limit cardiotoxic effects while ensuring an adequate anti-neoplastic effect would be ideal. In the meantime, expanding the use of cardioprotective agents with the best evidence such as dexrazoxane should be encouraged and further studied.

[This corrects the article .]., (Copyright © 2021 Rosa, Marques, DeBoard, Hutchins, Silva, Montague, Yuan, Amaral, Atella, Rosa, Mattos, VanderVen, Lahiri, Sampson, Brennan, Belisle, Pessolani and Berrêdo-Pinho.)

Upon infection, Mycobacterium leprae , an obligate intracellular bacillus, induces accumulation of cholesterol-enriched lipid droplets (LDs) in Schwann cells (SCs). LDs are promptly recruited to M. leprae -containing phagosomes, and inhibition of this process decreases bacterial survival, suggesting that LD recruitment constitutes a mechanism by which host-derived lipids are delivered to intracellular M. leprae . We previously demonstrated that M. leprae has preserved only the capacity to oxidize cholesterol to cholestenone, the first step of the normal cholesterol catabolic pathway. In this study we investigated the biochemical relevance of cholesterol oxidation on bacterial pathogenesis in SCs. Firstly, we showed that M. leprae increases the uptake of LDL-cholesterol by infected SCs. Moreover, fluorescence microscopy analysis revealed a close association between M. leprae and the internalized LDL-cholesterol within the host cell. By using Mycobacterium smegmatis mutant strains complemented with M. leprae genes, we demonstrated that ml1942 coding for 3β-hydroxysteroid dehydrogenase (3β-HSD), but not ml0389 originally annotated as cholesterol oxidase (ChoD), was responsible for the cholesterol oxidation activity detected in M. leprae . The 3β-HSD activity generates the electron donors NADH and NADPH that, respectively, fuel the M. leprae respiratory chain and provide reductive power for the biosynthesis of the dominant bacterial cell wall lipids phthiocerol dimycocerosate (PDIM) and phenolic glycolipid (PGL)-I. Inhibition of M. leprae 3β-HSD activity with the 17β-[N-(2,5-di-t-butylphenyl)carbamoyl]-6-azaandrost-4-en-3one (compound 1), decreased bacterial intracellular survival in SCs. In conclusion, our findings confirm the accumulation of cholesterol in infected SCs and its potential delivery to the intracellular bacterium. Furthermore, we provide strong evidence that cholesterol oxidation is an essential catabolic pathway for M. leprae pathogenicity and point to 3β-HSD as a prime drug target that may be used in combination with current multidrug regimens to shorten leprosy treatment and ameliorate nerve damage., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Rosa, Marques, DeBoard, Hutchins, Silva, Montague, Yuan, Amaral, Atella, Rosa, Mattos, VanderVen, Lahiri, Sampson, Brennan, Belisle, Pessolani and Berrêdo-Pinho.)

Parasitic nematodes in the genus Dracunculus have a complex life cycle that requires more than one host species in both aquatic and terrestrial habitats. The most well-studied species, Dracunculus medinensis , is the causative agent of human Guinea worm disease (dracunculiasis). There are several other Dracunculus species that infect non-human animals, primarily wildlife (reptiles and mammals). The classic route of D. medinensis transmission to humans is through the ingestion of water containing the intermediate host, a cyclopoid copepod, infected with third-stage larvae (L3s). However, many animal hosts (e.g., terrestrial snakes, dogs) of other Dracunculus sp. appear unlikely to ingest a large number of copepods while drinking. Therefore, alternative routes of infection (e.g., paratenic or transport hosts) may facilitate Dracunculus transmission to these species. To better understand the role of paratenic and transport hosts in Dracunculus transmission to animal definitive hosts, we compared copepod ingestion rates for aquatic species (fish, frogs [tadpoles and adults], and newts) which may serve as paratenic or transport hosts. We hypothesized that fish would consume more copepods than amphibians. Our findings confirm that African clawed frogs ( Xenopus laevis ) and fish consume copepods, but that fish ingest, on average, significantly higher numbers (68% [34/50]) than adult African clawed frogs (36% [18/50]) during a 24-h time period. Our results suggest that amphibians and fish may play a role in the transmission of Dracunculus to definitive hosts. Still, additional research is required to determine whether, in the wild, fish or frogs are serving as paratenic or transport hosts. If so, they may facilitate Dracunculus transmission. However, if these animals simply act as dead-end hosts or as means of copepod population control, they may decrease Dracunculus transmission., Competing Interests: None., (© 2021 The Authors.)

The autopsy findings for 3 cases of SARS-(CoV-2) pneumonia-related deaths are reported with pulmonary histology and immunohistochemistry findings. In 2 cases (cases 1 and 2), the time interval from presentation to death was approximately 1 week, whereas for case 3, the time interval from presentation to death was hours. Case 1 and case 2 presented with shortness of breath, cough, and flu-like symptoms. The decedent from case 3 died shortly after presenting to a local emergency room with high fever, chest and abdominal pain, and shortness of breath. All 3 cases had 1 or more comorbidities. The postmortem interval for cases 1 and 2 was 2 weeks as they died at sea and were stored on board within the respective cruise ships' refrigeration units, whereas case 3 was examined within 24 hours of death. The autopsies were conducted at the Miami-Dade County Medical Examiners Department under routine infectious precautions. Salient clinical history and autopsy findings are summarized. Microscopic examination revealed pneumonia with associated atypical endovascular cells.

We report a case of bifacial weakness with paresthesia, a recognized Guillain-Barré syndrome subtype characterized by rapidly progressive facial weakness and paresthesia without ataxia or other cranial neuropathies, which was temporally associated with antecedent coronavirus 2019 (COVID-19). This case highlights a potentially novel but critically important neurologic association of the COVID-19 disease process. Herein, we detail the clinicoradiologic work-up and diagnosis, clinical course, and multidisciplinary medical management of this patient with COVID-19. This case is illustrative of the increasingly recognized but potentially underreported neurologic manifestations of COVID-19, which must be considered and further investigated in this pandemic disease., (© 2020 by American Journal of Neuroradiology.)

Purpose of Review: Moderate hypertriglyceridemia is exceedingly common in diabetes, and there is growing evidence that it contributes to residual cardiovascular risk in statin-optimized patients. Major fibrate trials yielded inconclusive results regarding the cardiovascular benefit of lowering triglycerides, although there was a signal for improvement among patients with high triglycerides and low high-density lipoprotein (HDL)-the "diabetic dyslipidemia" phenotype. Until recently, no trials have examined a priori the impact of triglyceride lowering in patients with diabetic dyslipidemia, who are likely among the highest cardiovascular-risk patients., Recent Findings: In the recent REDUCE IT trial, omega-3 fatty acid icosapent ethyl demonstrated efficacy in lowering cardiovascular events in patients with high triglycerides, low HDL, and statin-optimized low-density lipoprotein (LDL). The ongoing PROMINENT trial is examining the impact of pemafibrate in a similar patient population. Emerging evidence suggests that lowering triglycerides may reduce residual cardiovascular risk, especially in high-risk patients with diabetic dyslipidemia.

Modafinil therapy, a nonamphetamine cognition-enhancing agent, holds the potential to improve recovery from cognitive impairment after intensive care unit (ICU) admission. To date, however, there is a paucity of data on modafinil use in the ICU setting. The purpose of this study was to explore the role of modafinil for improvement in cognition in ICU patients. This retrospective cohort study evaluated a total of 60 ICU patients with any ventilatory support who started on modafinil during their ICU stay from January 1, 2010, to March 19, 2016. The requirements of opioids and sedatives, as well as the lowest and average scores of the Glasgow Coma Scale (GCS) and Riker Sedation-Agitation Scale (SAS), were recorded during 48 hours before and after the start of modafinil therapy in 6-hour periods. The average daily modafinil dose of 170 mg was given for a median duration of 9 days. Modafinil administration was associated with a small, nonsignificant increase in GCS by 0.34 points after controlling for age, baseline severity of illness, and changes in sedation and analgesia over time (95%CI, -0.34 to 0.73 points; P = .0743). No major modafinil-associated adverse effects were observed. Modafinil administration did not significantly improve cognitive function in ICU patients within 48 hours of initiation. However, because of lack of robust evidence, the impact of modafinil on overall patient outcomes in the ICU remains unclear and needs further investigation., (© 2017, The American College of Clinical Pharmacology.)

Background: Cervical intraepithelial neoplasia grade 3+ (CIN3+) and adenocarcinoma in situ incidence will be an important measure of HPV vaccine impact. Integrated healthcare delivery systems, such as Kaiser Permanente, could be used to monitor CIN3+ trends; however, limited evaluations of data from healthcare delivery systems for CIN3+ surveillance exist., Methods: We compared CIN3+ diagnoses by ICD-9 code with CIN3+ diagnoses by pathology results among 121,211 females aged 11 to 30 years who were continuously enrolled from 2000 to 2005 in either Kaiser Permanente Northern California or Kaiser Permanente Northwest. We calculated sensitivity and positive predictive value of diagnosis by ICD-9 codes using pathology CIN3+ diagnosis as the gold standard., Results: There were 1,090 women with at least one CIN3+ diagnosis by ICD-9 code 233.1 and 1,200 women with at least one CIN3+ diagnosis by pathology results. The sensitivity of the ICD-9 code for detecting a woman with at least one pathology diagnosis for CIN3+ was 62% (740/1,200); positive predictive value was 68% (740/1,090). Among women with at least one CIN3+ diagnosis by ICD-9 code, 679 (62%) had more than one visit with this code; whereas, among women with at least one CIN3+ diagnosis by pathology, 466 (39%) had more than one CIN3+ pathology result., Conclusions: ICD-9 codes may underestimate the number of women with at least one CIN3+ diagnosis., Impact: Pathology results, when available, may provide better estimates of CIN3+ incidence.

Background: Ventilator-associated pneumonia (VAP) is a nosocomial pneumonia that develops in patients on mechanical ventilation for >or=48 hours. VAP develops at an estimated rate of 1% to 3% per day of mechanical ventilation., Methods: Quality improvement project. Mechanically ventilated patients received the following oral care every 4 hours: the teeth were brushed with cetylpyridinium chloride (changed to 0.12% chlorhexidine gluconate in 2007) using a suction toothbrush, the oral cavity was cleansed with suction swabs treated with hydrogen peroxide, a mouth moisturizer was applied, deep oropharyngeal suctioning was performed, and suction catheters were used to control secretions. The primary efficacy variable was a diagnosis of VAP in patients mechanically ventilated for >or=48 hours., Results: The historical average rate of VAP in 2004 was 12.6 cases/1000 ventilator-days. After the inception of the quality improvement project, VAP rates decreased to 4.12 (VAP cases/days of ventilation x 1000) for May to December 2005, to 3.57 for 2006, and to 1.3 for 2007., Conclusion: The use of an oral care protocol intervention and ventilator bundle led to an 89.7% reduction in the VAP rate in mechanically ventilated patients from 2004 to 2007.

Purpose: Significant association has recently been reported between pseudoexfoliation glaucoma (XFG) and two single-nucleotide polymorphisms (SNPs), rs3825942, and rs1048661, in the lysyl oxidase-like 1 gene (LOXL1). The purpose of this study was to investigate whether XFG-associated variants of LOXL1 play a significant role in primary open-angle glaucoma in the Caucasian, African-American, and Ghanaian (West-African) populations., Methods: POAG was defined as the presence of glaucomatous optic nerve damage, associated visual field loss, and elevated intraocular pressure (>22 mm Hg in both eyes). Thirteen tagging SNPs were genotyped by allelic discrimination assays in the Caucasian (279 cases and 227 controls), African-American (193 cases and 97 controls), and Ghanaian (170 cases and 138 controls) populations. Allele and genotype frequencies were compared between the cases and controls from each population., Results: None of the SNPs associated with XFG in LOXL1 were significantly associated with POAG in these populations. The risk allele frequencies for rs2165241 and rs3825942 were significantly lower in the African-American and Ghanaian populations, compared with Caucasian individuals., Conclusions: There was no association between SNPs in the LOXL1 gene and POAG. This is the first analysis of the LOXL1 gene in African-American and West-African populations. LOXL1 gene variants do not appear to play a significant role in the pathogenesis of POAG in populations of either Caucasian or West-African ancestry.