Pediatric Hepatitis C Quality Improvement Project Improves Healthcare Access.

OBJECTIVES: Incidence of hepatitis C virus (HCV) infection is increasing in women of reproductive age, leading to increased prevalence of HCV infection in children via vertical transmission. This quality improvement (QI) project aimed to increase referrals to and appointments scheduled with a specialty pediatric gastroenterology HCV clinic and the number of eligible children with HCV who completed treatment. METHODS: From July 2020 to August 2021, the QI team designed a project using the Model for Improvement and completed Plan Do Study Act cycles to test change ideas to improve HCV awareness and education for medical providers and families; standardize the referral process; track patients; increase clinic capacity; and connect families with community resource care coordination. Referrals to the pediatric HCV clinic, appointments scheduled, no shows, and treatment follow-up were tracked during the project period and a comparison timeframe from July 2019 to June 2020. RESULTS: There were improvements in several measures during the project period versus the comparison timeframe, with 80 versus 48 referrals received (66% increase), 115 versus 59 scheduled clinic visits (95% increase), and 7 versus 5 treatment completers (40% increase), along with a small (7%) decline in the proportion of scheduled clinic visits that were no shows. CONCLUSION: Application of QI methodology increased medical provider and caregiver awareness and engagement in accessing HCV healthcare available for at-risk children. More QI efforts should be accelerated to identify best practices amidst a nationwide HCV epidemic.

A method for transforming knowledge discovery metamodel to ArchiMate models.

Enterprise architecture has become an important driver to facilitate digital transformation in companies, since it allows to manage IT and business in a holistic and integrated manner by establishing connections among technology concerns and strategical/motivational ones. Enterprise architecture modelling is critical to accurately represent business and their IT assets in combination. This modelling is important when companies start to manage their enterprise architecture, but also when it is remodelled so that the enterprise architecture is realigned in a changing world. Enterprise architecture is commonly modelled by few experts in a manual way, which is error-prone and time-consuming and makes continuous realignment difficult. In contrast, other enterprise architecture modelling proposal automatically analyses some artefacts like source code, databases, services, etc. Previous automated modelling proposals focus on the analysis of individual artefacts with isolated transformations toward ArchiMate or other enterprise architecture notations and/or frameworks. We propose the usage of Knowledge Discovery Metamodel (KDM) to represent all the intermediate information retrieved from information systems' artefacts, which is then transformed into ArchiMate models. Thus, the core contribution of this paper is the model transformation between KDM and ArchiMate metamodels. The main implication of this proposal is that ArchiMate models are automatically generated from a common knowledge repository. Thereby, the relationships between different-nature artefacts can be exploited to get more complete and accurate enterprise architecture representations.

Dense Geographic and Genomic Sampling Reveals Paraphyly and a Cryptic Lineage in a Classic Sibling Species Complex.

Incomplete or geographically biased sampling poses significant problems for research in phylogeography, population genetics, phylogenetics, and species delimitation. Despite the power of using genome-wide genetic markers in systematics and related fields, approaches such as the multispecies coalescent remain unable to easily account for unsampled lineages. The Empidonax difficilis/Empidonax occidentalis complex of small tyrannid flycatchers (Aves: Tyrannidae) is a classic example of widely distributed species with limited phenotypic geographic variation that was broken into two largely cryptic (or "sibling") lineages following extensive study. Though the group is well-characterized north of the US Mexico border, the evolutionary distinctiveness and phylogenetic relationships of southern populations remain obscure. In this article, we use dense genomic and geographic sampling across the majority of the range of the E. difficilis/E. occidentalis complex to assess whether current taxonomy and species limits reflect underlying evolutionary patterns, or whether they are an artifact of historically biased or incomplete sampling. We find that additional samples from Mexico render the widely recognized species-level lineage E. occidentalis paraphyletic, though it retains support in the best-fit species delimitation model from clustering analyses. We further identify a highly divergent unrecognized lineage in a previously unsampled portion of the group's range, which a cline analysis suggests is more reproductively isolated than the currently recognized species E. difficilis and E. occidentalis. Our phylogeny supports a southern origin of these taxa. Our results highlight the pervasive impacts of biased geographic sampling, even in well-studied vertebrate groups like birds, and illustrate what is a common problem when attempting to define species in the face of recent divergence and reticulate evolution.

Surface Persistence of Trace Level Deposits of Highly Energetic Materials.

In the fields of Security and Defense, explosive traces must be analyzed at the sites of the terrorist events. The persistence on surfaces of these traces depends on the sublimation processes and the interactions with the surfaces. This study presents evidence that the sublimation process of these traces on stainless steel (SS) surfaces is very different than in bulk quantities. The enthalpies of sublimation of traces of four highly energetic materials: triacetone triperoxide (TATP), 2,4-dinitrotoluene (DNT), 2,4,6-trinitrotoluene (TNT), and 1,3,5- trinitrohexahydro-s-triazine (RDX) deposited on SS substrates were determined by optical fiber coupled-grazing angle probe Fourier Transform Infrared (FTIR) Spectroscopy. These were compared with enthalpies of sublimation determined by thermal gravimetric analysis for bulk amounts and differences between them were found. The sublimation enthalpy of RDX was very different for traces than for bulk quantities, attributed to two main factors. First, the beta-RDX phase was present at trace levels, unlike the case of bulk amounts which consisted only of the alpha-RDX phase. Second, an interaction between the RDX and SS was found. This interaction energy was determined using grazing angle FTIR microscopy. In the case of DNT and TNT, bulk and traces enthalpies were statistically similar, but it is evidenced that at the level of traces a metastable phase was observed. Finally, for TATP the enthalpies were statistically identical, but a non-linear behavior and a change of heat capacity values different from zero was found for both trace and bulk phases.

Prenatal treatment of ornithine transcarbamylase deficiency.

PURPOSE OF STUDY: Patients with neonatal urea cycle defects (UCDs) typically experience severe hyperammonemia during the first days of life, which results in serious neurological injury or death. Long-term prognosis despite optimal pharmacological and dietary therapy is still poor. The combination of intravenous sodium phenylacetate and sodium benzoate (Ammonul®) can eliminate nitrogen waste independent of the urea cycle. We report attempts to improve outcomes for males with severe ornithine transcarbamylase deficiency (OTCD), a severe X-linked condition, via prenatal intravenous administration of Ammonul and arginine to heterozygous carrier females of OTCD during labor. METHODS USED: Two heterozygote OTCD mothers carrying male fetuses with a prenatal diagnosis of OTCD received intravenous Ammonul, arginine and dextrose-containing fluids shortly before birth. Maintenance Ammonul and arginine infusions and high-caloric enteral nutrition were started immediately after birth. Ammonul metabolites were measured in umbilical cord blood and the blood of the newborn immediately after delivery. Serial ammonia and biochemical analyses were performed following delivery. SUMMARY OF RESULTS: Therapeutic concentrations of Ammonul metabolites were detected in umbilical cord and neonatal blood samples. Plasma ammonia and glutamine levels in the postnatal period were within the normal range. Peak ammonia levels in the first 24-48h were 53mcmol/l and 62mcmol/l respectively. The boys did not experience neurological sequelae secondary to hyperammonemia and received liver transplantation at ages 3months and 5months. The patients show normal development at ages 7 and 3years. CONCLUSION: Prenatal treatment of mothers who harbor severe OTCD mutations and carry affected male fetuses with intravenous Ammonul and arginine, followed by immediate institution of maintenance infusions after delivery, results in therapeutic levels of benzoate and phenylacetate in the newborn at delivery and, in conjunction with high-caloric enteral nutrition, prevents acute hyperammonemia and neurological decompensation. Following initial medical management, early liver transplantation may improve developmental outcome.

The challenges of closing an ileostomy in patients with total intestinal aganglionosis after small bowel transplant.

We present the case of a 14-year-old male with a history of small bowel transplantation for long segment Hirschsprung's disease who underwent Duhamel ileorectal pull-through procedure. In post-transplant, the patient had no restrictions and was not TPN-dependent. To improve his quality of life, he and his family were interested in closing the ileostomy and undergoing pull-through surgery. The complexity of the case includes the presence of an aganglionic rectal segment-a short root of the mesentery due to the small bowel transplant-and significant immunosuppression. At the moment, he is continent, doing well, and has not had any remarkable complications.

DAQUA-MASS: An ISO 8000-61 Based Data Quality Management Methodology for Sensor Data.

The Internet-of-Things (IoT) introduces several technical and managerial challenges when it comes to the use of data generated and exchanged by and between various Smart, Connected Products (SCPs) that are part of an IoT system (i.e., physical, intelligent devices with sensors and actuators). Added to the volume and the heterogeneous exchange and consumption of data, it is paramount to assure that data quality levels are maintained in every step of the data chain/lifecycle. Otherwise, the system may fail to meet its expected function. While Data Quality (DQ) is a mature field, existing solutions are highly heterogeneous. Therefore, we propose that companies, developers and vendors should align their data quality management mechanisms and artefacts with well-known best practices and standards, as for example, those provided by ISO 8000-61. This standard enables a process-approach to data quality management, overcoming the difficulties of isolated data quality activities. This paper introduces DAQUA-MASS, a methodology based on ISO 8000-61 for data quality management in sensor networks. The methodology consists of four steps according to the Plan-Do-Check-Act cycle by Deming.

Factores asociados con supervivencia a cinco años en niños con astrocitoma cerebral.

INTRODUCCIÓN: La segunda causa de muerte infantil es el cáncer, del cual las leucemias y los tumores del sistema nervioso central son las presentaciones más frecuentes; de los últimos, los astrocitomas representan 40 %. OBJETIVO: Identificar los factores asociados con la supervivencia a cinco años en niños con astrocitoma cerebral. MÉTODO: Estudio de casos y controles anidado en una cohorte retrospectiva en pacientes con diagnóstico de astrocitoma cerebral que recibieron tratamiento de diciembre de 2006 a enero de 2010. Se realizó estadística descriptiva y prueba de chi cuadrado; para evaluar la supervivencia se utilizó el método de Kaplan-Meier. RESULTADOS: Se incluyeron 21 pacientes con diagnóstico de astrocitoma cerebral; la supervivencia fue de 76 % a cinco años, el astrocitoma pilocítico fue el más frecuente (61 %), con una edad media de siete años; predominó el sexo masculino, la edad al fallecimiento osciló entre los ocho y 12 años (p = 0.022); 80 % de los pacientes fallecidos tuvo tumor con localización infratentorial d (RM = 17.3, IC 95 % = 1-622, p = 0.01). No hubo diferencia en la supervivencia atribuible al tratamiento. CONCLUSIÓN: La supervivencia a cinco años fue de 76 %; el factor de riesgo significativo que la limita es la localización infratentorial del tumor. INTRODUCTION: The second cause of children's death is cancer, with leukemia and central nervous system tumors being the most common, among which astrocytomas account for 40%. OBJECTIVE: To find out the factors associated with 5-year survival in children with cerebral astrocytoma. METHOD: Case-control study nested in a retrospective cohort of patients diagnosed with cerebral astrocytoma who received treatment from December 2006 to January 2010. Descriptive statistics and the chi-square test were carried out; the Kaplan-Meier method was used to assess survival. RESULTS: Twenty-one patients diagnosed with cerebral astrocytoma were included; survival was 76% at 5 years; with pilocytic astrocytoma being the most common (61%); mean age was 7 years, and male gender was predominant; age at death ranged from 8 to 12 years (p = 0.022), with 80% of deceased patients having infratentorial localization (OR = 17.3; 95% CI = 1-622; p = 0.01). There was no treatment-attributable survival difference. CONCLUSIONS: Five-year survival was 76%; the limiting risk factor is tumor infratentorial localization.

Mass cytometry reveals a distinct immunoprofile of operational tolerance in pediatric liver transplantation.

Long-term IS in transplant patients has significant morbidity, poorer quality of life, and substantial economic costs. TOL, defined as graft acceptance without functional impairment in the absence of IS, has been achieved in some pediatric LT recipients. Using mass cytometry, peripheral blood immunotyping was performed to characterize differences between tolerant patients and patients who are stable on single-agent IS. Single-cell mass cytometry was performed using blood samples from a single-center pediatric LT population of operationally tolerant patients to comprehensively characterize the immune cell populations in the tolerant state compared with patients on chronic low-dose IS. Specific T-cell populations of interest were confirmed by flow cytometry. This high-dimensional phenotypic analysis revealed distinct immunoprofiles between transplant populations as well as a CD4+ TOT (CD4+ CD5+ CD25+ CD38-/lo CD45RA) that correlates with tolerance in pediatric LT recipients. In TOL patients, the TOT was significantly increased as compared to patients stable on low levels of IS. This TOT cell was confirmed by flow cytometry and is distinct from classic Treg cells. These results demonstrate the power of mass cytometry to discover significant immune cell signatures that have diagnostic potential.

[Clinical presentation of supratentorial and infratentorial intracranial tumors in pediatric patients]. / Presentación clínica de tumores intracraneales supratentoriales (ST) e infratentoriales (IT) en pacientes pediátricos.

BACKGROUND: Brain tumors are the second most common malignancy in childhood and they are also the most common solid tumors in children and the most frequent cause of morbidity and mortality associated with cancer in this age. OBJECTIVE: To determine the clinical presentation of supratentorial and infratentorial intracranial tumors in pediatric patients. MATERIAL AND METHODS: An observational, retrospective, cross-sectional comparative study in which records the clinical manifestations of 51 pediatric patients diagnosed with intracranial tumor, according with its location, supra- or infratentorial. RESULTS: 51 patients were analyzed. Tumor location was infratentorial in 32 patients (62.7%) and supratentorial in 19 (37.3%). Cerebellar syndrome occurred in 21 patients (65.6 %) with infratentorial tumor compared with six (31.5 %) with supratentorial tumor (p = 0.04; OR: 3.2; 95% CI: 1.1-12.8). Nystagmus was significantly more common in patients with infratentorial tumors (p = 0.029). Endocrine manifestations were present in four patients (21%) with supratentorial tumor and none of the infratentorial group (p = 0.03). CONCLUSIONS: Cerebellar syndrome was statistically significantly more common in patients with infratentorial when compared with patients with supratentorial. Nystagmus is one of the most common visual impairments in patients with infratentorial tumor. Endocrine disorders are significantly more frequent in patients with supratentorial tumor. The interval between onset of symptoms and diagnosis of intracranial tumor is significantly longer in children with supratentorial tumor because the symptoms are more insidious in onset and are mistaken for other benign conditions.

Molecular evolution and expression profile of the chemerine encoding gene RARRES2 in baboon and chimpanzee.

BACKGROUND: Chemerin, encoded by the retinoic acid receptor responder 2 (RARRES2) gene is an adipocytesecreted protein with autocrine/paracrine functions in adipose tissue, metabolism and inflammation with a recently described function in vascular tone regulation, liver, steatosis, etc. This molecule is believed to represent a critical endocrine signal linking obesity to diabetes. There are no data available regarding evolution of RARRES2 in non-human primates and great apes. Expression profile and orthology in RARRES2 genes are unknown aspects in the biology of this multigene family in primates. Thus; we attempt to describe expression profile and phylogenetic relationship as complementary knowledge in the function of this gene in primates. To do that, we performed A RT-PCR from different tissues obtained during necropsies. Also we tested the hypotheses of positive evolution, purifying selection, and neutrality. And finally a phylogenetic analysis was made between primates RARRES2 protein. RESULTS: RARRES2 transcripts were present in liver, lung, adipose tissue, ovary, pancreas, heart, hypothalamus and pituitary tissues. Expression in kidney and leukocytes were not detectable in either species. It was determined that the studied genes are orthologous. CONCLUSIONS: RARRES2 evolution fits the hypothesis of purifying selection. Expression profiles of the RARRES2 gene are similar in baboons and chimpanzees and are also phylogenetically related.

Perioperative management of obstructive sleep apnea: a survey of Puerto Rico anesthesia providers.

BACKGROUND: Obstructive sleep apnea (OSA) prevalence has been increasing in the past years adding significant morbidity. Perioperative management is controversial and few studies have addressed this matter. The American Society of Anesthesiology (ASA) and the American Academy of Sleep Medicine (AASM) have developed clinical practice guidelines for the perioperative management of patients with OSA. Existing evidence suggest an increase in early postoperative complications in patients with OSA. Nevertheless, data about perioperative management of OSA is limited. To our knowledge, only two studies that address this matter, none in Puerto Rico. METHODS: A questionnaire was given to participants at the annual meeting of anesthesiology in Puerto Rico. The document was then anonymously deposited into sealed box. RESULTS: The response rate was 80 %. The awareness about written postoperative policy in patients with diagnosed (23 %) and suspected (11 %) OSA was low. If a written policy were available, 46 % of patients would have gone to ICU. The most important factor for final disposition was the degree of OSA, which was decided by surgery and anesthesia (69 %). In the last year, at least one complication related to OSA was observed in 20 % of respondents. The most common preoperative screening tool was the ASA guidelines. Seventy-two percent of respondents suggested a lack of institutional policies as the main reason for disparity. CONCLUSION: There is a significant heterogeneity in the current clinical practice. The main barriers identified to achieve current recommendations were lack of institutional policies, awareness of current guideline, formal training in management of OSA, and access to a sleep specialist.

[Reactivity and evolution of 4022 patch tests in Chilean patients with contact dermatitis]. / Reactividad y evolución de 4.022 tests de parche en dermatitis de contacto realizadas entre 1995 y 2011 en Santiago de Chile.

BACKGROUND: Allergic Contact Dermatitis is a classic delayed hypersensitivity reaction. AIM: To study the reactivity and evolution in Chilean patients by gender, using the standard European patch test. MATERIALS AND METHODS: The results of the European standard patch test applied to 4,022 patients aged 1 to 93 years (64% female) with Allergic Contact Dermatitis, diagnosed between January 1995 and August 2011, were retrospectively analyzed. RESULTS: From a total of 4,022 patients, 2,439 (60.6%) had a positive reaction. Among reactive patients, 1,854 (76.04%) were female and 584 (23.96%) male. The most common positive allergens were nickel (35.3%), cobalt (15.1%), fragrance mix (14%), chromium (8.7%) and balsam of Peru (8.5%). In females, nickel was the most common reactive antigen (34.28%), and in males, fragrance mix (15.7%). During the period 2003-2011, an increased reactivity to nickel (26.6%) and a decreased reactivity to p-phenylenediamine (29.6%) and fragrance (42.8%), was observed. CONCLUSIONS: Fragrance mix is the most common reactive allergen in males and the third for females. Nickel is the leading allergen in the female group and the second of importance for males, making it the most significant allergen for the Chilean population. We also observed that the reactivity of some allergens evolves and varies over time.

Functional synthetic Antennapedia genes and the dual roles of YPWM motif and linker size in transcriptional activation and repression.

Segmental identity along the anteroposterior axis of bilateral animals is specified by Hox genes. These genes encode transcription factors, harboring the conserved homeodomain and, generally, a YPWM motif, which binds Hox cofactors and increases Hox transcriptional specificity in vivo. Here we derive synthetic Drosophila Antennapedia genes, consisting only of the YPWM motif and homeodomain, and investigate their functional role throughout development. Synthetic peptides and full-length Antennapedia proteins cause head-to-thorax transformations in the embryo, as well as antenna-to-tarsus and eye-to-wing transformations in the adult, thus converting the entire head to a mesothorax. This conversion is achieved by repression of genes required for head and antennal development and ectopic activation of genes promoting thoracic and tarsal fates, respectively. Synthetic Antennapedia peptides bind DNA specifically and interact with Extradenticle and Bric-à-brac interacting protein 2 cofactors in vitro and ex vivo. Substitution of the YPWM motif by alanines abolishes Antennapedia homeotic function, whereas substitution of YPWM by the WRPW repressor motif, which binds the transcriptional corepressor Groucho, allows all proteins to act as repressors only. Finally, naturally occurring variations in the size of the linker between the homeodomain and YPWM motif enhance Antennapedia repressive or activating efficiency, emphasizing the importance of linker size, rather than sequence, for specificity. Our results clearly show that synthetic Antennapedia genes are functional in vivo and therefore provide powerful tools for synthetic biology. Moreover, the YPWM motif is necessary--whereas the entire N terminus of the protein is dispensable--for Antennapedia homeotic function, indicating its dual role in transcriptional activation and repression by recruiting either coactivators or corepressors.

Don't Go Vaping My Heart: A Case of Vaping-Associated Cardiomyopathy and Lung Injury.

The potential adverse effects of electronic cigarette (e-cigarette) use or vaping on pulmonary function have been previously well documented, with the diagnosis of e-cigarette- or vaping-use-associated lung injury (EVALI) has become increasingly common. The potential effects in terms of cardiovascular function and vaping is an area that is less well understood. We present a case of acute respiratory distress and newly onset reduced systolic function in a previously healthy young male.

Winter connectivity and leapfrog migration in a migratory passerine.

Technological advances in migratory tracking tools have revealed a remarkable diversity in migratory patterns. One such pattern is leapfrog migration, where individuals that breed further north migrate to locations further south. Here, we analyzed migration patterns in the Painted Bunting (Passerina ciris) using a genetic-based approach. We started by mapping patterns of genetic variation across geographic space (called a genoscape) using 386 individuals from 25 populations across the breeding range. We then genotyped an additional 230 samples from 31 migration stopover locations and 178 samples from 16 wintering locations to map patterns of migratory connectivity. Our analyses of genetic variation across the breeding range show the existence of four genetically distinct groups within the species: Eastern, Southwestern, Louisiana, and Central groups. Subsequent assignment of migrating and wintering birds to genetic groups illustrated that birds from the Central group migrated during the fall via western Mexico or southern Texas, spent the winter from northeastern Mexico to Panama, and migrated north via the Gulf Coast of Mexico. While Louisiana birds overlapped with Central birds on their spring migratory routes along the Gulf Coast, we found that Louisiana birds had a more restricted wintering distribution in the Yucatan Peninsula and Central America. Further estimation of the straight-line distance from the predicted breeding location to the wintering location revealed that individuals sampled at lower winter latitudes traveled to greater distances (i.e., the predicted breeding area was further north; p > .001), confirming that these species exhibit a leapfrog migration pattern. Overall, these results demonstrate the utility of a genoscape-based approach for identifying range-wide patterns of migratory connectivity such as leapfrog migration with a high degree of clarity.

Non-selective Aortic Root Angiographic Contrast Injection in a Case of Anomalous Right Coronary Artery Ostium.

Anomalous origin of the right coronary artery (RCA) is a rare congenital cardiovascular anomaly that can pose significant diagnostic challenges during cardiac evaluation. We present a case of a 54-year-old male patient with chest pain and a syncopal episode and subsequently diagnosed with non-ST-elevated myocardial infarction (NSTEMI). Coronary angiography revealed an anomalous origin of the RCA, making it difficult to precisely locate the artery's point of origin with selective contrast injection. During coronary angiography, the use of aortic root non-selective angiographic contrast injection aided in localizing the RCA ostium. Our case highlights the clinical significance of aortic contrast injection as a valuable and safe adjunctive technique in cases of anomalous coronary artery origins. Early detection and precise localization of such anomalies are essential for effective treatment planning and improved patient outcomes. Further studies may help validate the utility of aortic contrast injection in similar cases, thereby enhancing diagnostic accuracy and patient care in the management of anomalous coronary artery ostium.

Acne characteristics in Latin American patients and the potential role of trifarotene.

BACKGROUND: Individualization of treatment based on acne type and severity, location, disease burden, and patient preference is required to maximize efficacy, safety, and adherence to therapy. Latin American populations have unique attributes that must be considered as part of this process to improve clinical success and achieve patient goals. Acne is more common among patients with darker skin phototypes, in whom it is often associated with postinflammatory hyperpigmentation and scarring-the most important acne sequelae-potentially due to more frequent and more severe underlying inflammatory processes in this population. DISCUSSION: These data argue for an early and proactive approach to managing acne in these patients with agents that target the inflammatory processes that underlie acne and its sequelae. As a class, retinoids offer a spectrum of activity that may be useful in addressing the unique needs of Latin American populations. CONCLUSION: Trifarotene, a novel, selective retinoid, has been evaluated in relevant patient populations.