Rare Genetic Variants of NLRP12 in Admixed Latino-American Children With SARS-CoV-2-Related Multisystem Inflammatory Syndrome.

Multisystem inflammatory syndrome in children (MIS-C) is a rare, potentially fatal complication of SARS-CoV-2 infection. Genetic defects in inflammation-related pathways have been linked to MIS-C, but additional research is needed, especially in diverse ethnic groups. The present study aimed to identify genetic variants underlying MIS-C in Brazilian patients.

Autonomic and Enteric Profiling May Help Predict Response to Diverse Obesity Therapies.

Purpose: Changes in autonomic (ANS) and enteric nervous systems (ENS) may be involved in pathogenesis of obesity. We hypothesized that baseline autonomic and enteric parameters may predict outcomes of diverse obesity therapies.

Material And Methods: We studied ANS and ENS physiology in 37 patients (8 male, 29 female, age 45 years, weight 129.

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder frequently linked to n.72A>G (previously known as n.70A>G and n.

A case report of vaccine-induced immune thrombotic thrombocytopenia (VITT) with genetic analysis.

The emergence of the rare syndrome called vaccine-induced immune thrombocytopenia and thrombosis (VITT) after adenoviral vector vaccines, including ChAdOx1 nCov-19, raises concern about one's predisposing risk factors. Here we report the case of a 56-year-old white man who developed VITT leading to death within 9 days of symptom onset. He presented with superior sagittal sinus thrombosis, right frontal intraparenchymal hematoma, frontoparietal subarachnoid and massive ventricular hemorrhage, and right lower extremity arterial and venous thrombosis.

[S156] Comparing outcomes of per-oral pyloromyotomy and robotic pyloroplasty for the treatment of gastroparesis.

Background: Gastroparesis is characterized by delayed gastric emptying without a significant obstructive pathology and is estimated to effect more than 5 million adults in the United States. Therapies for this condition are divided into two categories: gastric electrical stimulation or pyloric therapies to facilitate gastric emptying. Pyloric procedures include pyloroplasty, a well-documented procedure, and per-oral endoscopic myotomy (POP), a relatively novel endoscopic procedure that disrupts the pyloric muscles endoscopically.

The Inclusion of Voice Assessments to Aid Diagnostic and Surgical Decision Making for Patients With Laryngopharyngeal Reflux.

Objective: Patients with suspected laryngopharyngeal reflux (LPR) present with a variety of symptoms, such as cough, hoarseness, and globus sensation, and often do not have the classic features associated with gastroesophageal reflux disease.

Study Design: To achieve greater clarity in the symptom presentation, response to treatment, and the impact on vocal function among patients presenting with signs and symptoms consistent with LPR, we prospectively evaluated initial assessments and outcomes after medication or surgical management.

Methods: A sample of 109 patients completed self-report measures of reflux symptoms, voice handicap, and underwent diagnostic workup by both laryngologist and foregut surgeon to include laryngoscopy, esophagogastroduodenoscopy, manometry and pH monitoring.

Congenital Zika Syndrome Is Associated With Interferon Alfa Receptor 1.

Host factors that influence Congenital Zika Syndrome (CZS) outcome remain elusive. Interferons have been reported as the main antiviral factor in Zika and other flavivirus infections. Here, we accessed samples from 153 pregnant women (77 without and 76 with CZS) and 143 newborns (77 without and 66 with CZS) exposed to ZIKV conducted a case-control study to verify whether interferon alfa receptor 1 () and interferon lambda 2 and 4 () single nucleotide polymorphisms (SNPs) contribute to CZS outcome, and characterized placenta gene expression profile at term.

Putative pathogen-selected polymorphisms in the PKLR gene are associated with mycobacterial susceptibility in Brazilian and African populations.

Pyruvate kinase (PK), encoded by the PKLR gene, is a key player in glycolysis controlling the integrity of erythrocytes. Due to Plasmodium selection, mutations for PK deficiency, which leads to hemolytic anemia, are associated with resistance to malaria in sub-Saharan Africa and with susceptibility to intracellular pathogens in experimental models. In this case-control study, we enrolled 4,555 individuals and investigated whether PKLR single nucleotide polymorphisms (SNPs) putatively selected for malaria resistance are associated with susceptibility to leprosy across Brazil (Manaus-North; Salvador-Northeast; Rondonópolis-Midwest and Rio de Janeiro-Southeast) and with tuberculosis in Mozambique.

Human-SARS-CoV-2 interactome and human genetic diversity: TMPRSS2-rs2070788, associated with severe influenza, and its population genetics caveats in Native Americans.

For human/SARS-CoV-2 interactome genes ACE2, TMPRSS2 and BSG, there is a convincing evidence of association in Asians with influenza-induced SARS for TMPRSS2-rs2070788, tag-SNP of the eQTL rs383510. This case illustrates the importance of population genetics and of sequencing data in the design of genetic association studies in different human populations: the high linkage disequilibrium (LD) between rs2070788 and rs383510 is Asian-specific. Leveraging on a combination of genotyping and sequencing data for Native Americans (neglected in genetic studies), we show that while their frequencies of the Asian tag-SNP rs2070788 is, surprisingly, the highest worldwide, it is not in LD with the eQTL rs383510, that therefore, should be directly genotyped in genetic association studies of SARS in populations with Native American ancestry.

Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes.

Background/objectives: Admixed populations are a resource to study the global genetic architecture of complex phenotypes, which is critical, considering that non-European populations are severely underrepresented in genomic studies. Here, we study the genetic architecture of BMI in children, young adults, and elderly individuals from the admixed population of Brazil.

Subjects/methods: Leveraging admixture in Brazilians, whose chromosomes are mosaics of fragments of Native American, European, and African origins, we used genome-wide data to perform admixture mapping/fine-mapping of body mass index (BMI) in three Brazilian population-based cohorts from Northeast (Salvador), Southeast (Bambuí), and South (Pelotas).

Outcomes after Laparoscopic Gastropexy as an Alternative for Paraesophageal Hernia Repair.

Background: Outcomes after laparoscopic gastropexy (LG), performed as an alternative to formal paraesophageal hernia (PEH) repair in patients with giant PEH, have been rarely studied. This manuscript evaluates complications and long-term quality-of-life after LG.

Methods: An IRB-approved protocol was used to identify patients who underwent LG to alleviate symptoms of acute or chronic gastric obstruction secondary to a paraesophageal hernia.

How Ancestry Influences the Chances of Finding Unrelated Donors: An Investigation in Admixed Brazilians.

A match of HLA loci between patients and donors is critical for successful hematopoietic stem cell transplantation. However, the extreme polymorphism of HLA loci - an outcome of millions of years of natural selection - reduces the chances that two individuals will carry identical combinations of multilocus HLA genotypes. Further, HLA variability is not homogeneously distributed throughout the world: African populations on average have greater variability than non-Africans, reducing the chances that two unrelated African individuals are HLA identical.

Intraoperative Esophagogastroduodenoscopy During Heller Myotomy: Evaluating Guidelines.

Background: National guidelines suggest routine intraoperative esophagogastroduodenoscopy (EGD) during laparoscopic Heller myotomy (LHM) to assess for mucosal perforation and myotomy adequacy, but the utility of this is unknown. This study aimed to evaluate the effect of intraoperative EGD on outcomes after LHM.

Methods: Patients who underwent LHM in a single center were retrospectively identified.

HLA-DPB1 and HLA-C alleles are associated with leprosy in a Brazilian population.

Despite intense efforts, the number of new cases of leprosy has remained significantly high over the past 20 years. Host genetic background is strongly linked to the pathogenesis of this disease, which is caused by Mycobacterium leprae (M. leprae), and there is a consensus that the most significant genetic association with leprosy is attributed to the major histocompatibility complex (MHC).

An evaluation of emergency general surgery transfers and a call for standardization of practices.

Background: There is an increasing trend toward regionalization of emergency general surgery, which burdens patients. The absence of a standardized, emergency general surgery transfer algorithm creates the potential for unnecessary transfers. The aim of this study was to evaluate clinical reasoning prompting emergency general surgery transfers and to initiate a discussion for optimal emergency general surgery use.

Comparing patterns of care and outcomes after operative management of complications after bariatric surgery at MBSAQIP accredited bariatric centers and non-bariatric facilities.

Background: Many operations for complications after bariatric surgery are performed by surgeons without bariatric expertise at centers without teams who routinely care for bariatric patients. This study sought to evaluate whether bariatric expertise affects patterns of care and perioperative outcomes among patients undergoing operative intervention for complications after bariatric surgery.

Methods: Administrative claims data from the Kentucky Office of Health Policy were queried for inpatients undergoing operative intervention for complications related to bariatric surgery between 2015 and 2018.

The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.

In central Brazil, in the municipality of Faina (state of Goiás), the small and isolated village of Araras comprises a genetic cluster of xeroderma pigmentosum (XP) patients. The high level of consanguinity and the geographical isolation gave rise to a high frequency of XP patients. Recently, two founder events were identified affecting that community, with two independent mutations at the POLH gene, c.

Origins, Admixture Dynamics, and Homogenization of the African Gene Pool in the Americas.

The Transatlantic Slave Trade transported more than 9 million Africans to the Americas between the early 16th and the mid-19th centuries. We performed a genome-wide analysis using 6,267 individuals from 25 populations to infer how different African groups contributed to North-, South-American, and Caribbean populations, in the context of geographic and geopolitical factors, and compared genetic data with demographic history records of the Transatlantic Slave Trade. We observed that West-Central Africa and Western Africa-associated ancestry clusters are more prevalent in northern latitudes of the Americas, whereas the South/East Africa-associated ancestry cluster is more prevalent in southern latitudes of the Americas.

Splenic rupture after elective cardioversion.

Splenic laceration and rupture are common phenomena among patients in a traumatic setting, especially in blunt trauma. Much more unusual, however, is splenic injury without a known insult. Several case reports and studies have been written about spontaneous splenic injury in patients with viral, haematological or malignant processes.

African biogeographical ancestry, atopic and non-atopic asthma and atopy: A study in Latin American children.

Background: Genetic variants underlying African ancestry have been suggested be implicated in the ethnic-racial inequalities reported for asthma and allergies.

Objectives: To investigate the association between individual African ancestry and asthma symptoms, atopic and non-atopic asthma, and atopy in children.

Methods: A cross-sectional study encompassing 1190 individuals was conducted.

Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America.

The genetic architecture of asthma was relatively well explored. However, some work remains in the field to improve our understanding on asthma genetics, especially in non-Caucasian populations and with regards to commonly neglected genetic variants, such as Copy Number Variations (CNVs). In the present study, we investigated the contribution of CNVs on asthma risk among Latin Americans.

Heller Myotomy: To Wrap or Not to Wrap?

Heller myotomy (HM) is widely recognized as the most effective treatment of achalasia. Although effective in improving dysphagia symptoms, HM is associated with reflux. Over a five-year period, 63 laparoscopic HM were performed.