Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations

Naturally Occurring Endocrine Disorders in Non-Human Primates: A Comprehensive Review

Literature concerning veterinary medicine of non-human primates is continuously updated, yet endocrine disorders remain underreported. While case or survey reports of individual endocrinopathies are available, a comprehensive review is not. An exhaustive literature search on this subject via widely used academic search systems, (e.g., Google Scholar, PubMed, BioOne complete and Web of Science), and peer-reviewed publications, proceedings, and newsletters was performed. Selected major endocrine entities will be described with emphasis on clinical signs, morphologic appearances, concomitant diseases, as well as available treatment options. Mostly, no clinical signs were noted and on gross pathology, the endocrine organs were unremarkable. An endocrine-related diagnosis was frequently made as an incidental finding after standard histopathological examination. During the review, the pancreas represented the most affected endocrine organ and diabetes mellitus represented the most clinically significant disorder. Currently, no standard procedure for diagnosing, monitoring, or treating endocrine disorders in non-human primates exists

Perspectives on SARS-CoV-2 Cases in Zoological Institutions

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections in a zoological institution were initially reported in March 2020. Since then, at least 94 peer-reviewed cases have been reported in zoos worldwide. Among the affected animals, nonhuman primates, carnivores, and artiodactyls appear to be most susceptible to infection, with the Felidae family accounting for the largest number of reported cases. Clinical symptoms tend to be mild across taxa; although, certain species exhibit increased susceptibility to disease. A variety of diagnostic tools are available, allowing for initial diagnostics and for the monitoring of infectious risk. Whilst supportive therapy proves sufficient in most cases, monoclonal antibody therapy has emerged as a promising additional treatment option. Effective transmission of SARS-CoV-2 in some species raises concerns over potential spillover and the formation of reservoirs. The occurrence of SARS-CoV-2 in a variety of animal species may contribute to the emergence of variants of concern due to altered viral evolutionary constraints. Consequently, this review emphasizes the need for effective biosecurity measures and surveillance strategies to prevent and control SARS-CoV-2 infections in zoological institutions

Inguinal Hernia in Nonhuman Primates: From Asymptomatic to Life-Threatening Events

In this study, a review of available data and literature on the epidemiology and anamnesis of inguinal hernias in nonhuman primates, as well as on their clinical evaluation and surgical management, was conducted. Inguinal hernias are assumed to be relatively common in male nonhuman primates. Clinical signs are usually limited to a visible or palpable mass in the groin region without pain or systemic illness. Most hernias contain omentum. Careful monitoring is an acceptable treatment option for those animals. Size, the danger of incarceration, and the presence of strangulation are important factors when considering surgical repair. A strangulated inguinal hernia is an emergency, requiring prompt surgery to avoid tissue necrosis and death. Imaging techniques, as well as computed tomography (CT), ultrasonography, and magnetic resonance imaging (MRI), provide information about the anatomical characteristics of the suspected region, allowing for a diagnosis and treatment. An inguinal hernia repair can be performed with either open surgery or laparoscopic surgery. The hernia repair can be achieved by mesh or suture. Decisions regarding which repair technique to use depend on the surgeon′s skill level and preference. Complication and recurrence rates are generally low. The most common postsurgical complication is a recurrence of the hernia. Contraceptive measures are not indicated in breeders, as there is no known hereditary component, and the presence of hernia does not appear to affect fertility, nor does it predispose to occurrence, recurrence, or incarceration

Common Marmosets (Callithrix jacchus) as a Nonhuman Primate Model To Assess the Virulence of Eastern Equine Encephalitis Virus Strains▿

Eastern equine encephalitis virus (EEEV) produces the most severe human arboviral disease in North America (NA) and is a potential biological weapon. However, genetically and antigenically distinct strains from South America (SA) have seldom been associated with human disease or mortality despite serological evidence of infection. Because mice and other small rodents do not respond differently to the NA versus SA viruses like humans, we tested common marmosets (Callithrix jacchus) by using intranasal infection and monitoring for weight loss, fever, anorexia, depression, and neurologic signs. The NA EEEV-infected animals either died or were euthanized on day 4 or 5 after infection due to anorexia and neurologic signs, but the SA EEEV-infected animals remained healthy and survived. The SA EEEV-infected animals developed peak viremia titers of 2.8 to 3.1 log10 PFU/ml on day 2 or 4 after infection, but there was no detectable viremia in the NA EEEV-infected animals. In contrast, virus was detected in the brain, liver, and muscle of the NA EEEV-infected animals at the time of euthanasia or death. Similar to the brain lesions described for human EEE, the NA EEEV-infected animals developed meningoencephalitis in the cerebral cortex with some perivascular hemorrhages. The findings of this study identify the common marmoset as a useful model of human EEE for testing antiviral drugs and vaccine candidates and highlight their potential for corroborating epidemiological evidence that some, if not all, SA EEEV strains are attenuated for humans

A Non-Human Primate Model of Severe Pneumococcal Pneumonia.

RATIONALE:Streptococcus pneumoniae is the leading cause of community-acquired pneumonia and infectious death in adults worldwide. A non-human primate model is needed to study the molecular mechanisms that underlie the development of severe pneumonia, identify diagnostic tools, explore potential therapeutic targets, and test clinical interventions during pneumococcal pneumonia. OBJECTIVE:To develop a non-human primate model of pneumococcal pneumonia. METHODS:Seven adult baboons (Papio cynocephalus) were surgically tethered to a continuous monitoring system that recorded heart rate, temperature, and electrocardiography. Animals were inoculated with 109 colony-forming units of S. pneumoniae using bronchoscopy. Three baboons were rescued with intravenous ampicillin therapy. Pneumonia was diagnosed using lung ultrasonography and ex vivo confirmation by histopathology and immunodetection of pneumococcal capsule. Organ failure, using serum biomarkers and quantification of bacteremia, was assessed daily. RESULTS:Challenged animals developed signs and symptoms of pneumonia 4 days after infection. Infection was characterized by the presence of cough, tachypnea, dyspnea, tachycardia and fever. All animals developed leukocytosis and bacteremia 24 hours after infection. A severe inflammatory reaction was detected by elevation of serum cytokines, including Interleukin (IL)1Ra, IL-6, and IL-8, after infection. Lung ultrasonography precisely detected the lobes with pneumonia that were later confirmed by pathological analysis. Lung pathology positively correlated with disease severity. Antimicrobial therapy rapidly reversed symptomology and reduced serum cytokines. CONCLUSIONS:We have developed a novel animal model for severe pneumococcal pneumonia that mimics the clinical presentation, inflammatory response, and infection kinetics seen in humans. This is a novel model to test vaccines and treatments, measure biomarkers to diagnose pneumonia, and predict outcomes

Mobilizing the Latino Youth Vote: Some Experimental Results

The objectives of this article are to test whether Latino canvassers are more effective than non-Latino canvassers at increasing voter turnout among young Latinos, and to test whether young Latinos are more receptive to a mobilization message that stresses ethnic group solidarity or one that emphasizes civic duty. Copyright (c) 2006 Southwestern Social Science Association.