Bleeding and Thrombosis in Patients With Out-of-Hospital Ventricular Tachycardia/Ventricular Fibrillation Arrest Treated With Extracorporeal Cardiopulmonary Resuscitation.

BACKGROUND: Extracorporeal cardiopulmonary resuscitation improves outcomes after out-of-hospital cardiac arrest. However, bleeding and thrombosis are common complications. We aimed to describe the incidence and predictors of bleeding and thrombosis and their association with in-hospital mortality. METHODS AND RESULTS: Consecutive patients presenting with refractory ventricular tachycardia/ventricular fibrillation out-of-hospital cardiac arrest between December 2015 and March 2022 who met the criteria for extracorporeal cardiopulmonary resuscitation initiation at our center were included. Major bleeding was defined by the Extracorporeal Life Support Organization's criteria. Adjusted analyses were done to seek out risk factors for bleeding and thrombosis and evaluate their association with mortality. Major bleeding occurred in 135 of 200 patients (67.5%), with traumatic bleeding from cardiopulmonary resuscitation in 73 (36.5%). Baseline demographics and arrest characteristics were similar between groups. In multivariable analysis, decreasing levels of fibrinogen were independently associated with bleeding (adjusted hazard ratio [aHR], 0.98 per every 10 mg/dL rise [95% CI, 0.96-0.99]). Patients who died had a higher rate of bleeds per day (0.21 versus 0.03, P<0.001) though bleeding was not significantly associated with in-hospital death (aHR, 0.81 [95% CI. 0.55-1.19]). A thrombotic event occurred in 23.5% (47/200) of patients. Venous thromboembolism occurred in 11% (22/200) and arterial thrombi in 15.5% (31/200). Clinical characteristics were comparable between groups. In adjusted analyses, no risk factors for thrombosis were identified. Thrombosis was not associated with in-hospital death (aHR, 0.65 [95% CI, 0.42-1.03]). CONCLUSIONS: Bleeding is a frequent complication of extracorporeal cardiopulmonary resuscitation that is associated with decreased fibrinogen levels on admission whereas thrombosis is less common. Neither bleeding nor thrombosis was significantly associated with in-hospital mortality.

Genome sequencing as a generic diagnostic strategy for rare disease.

BACKGROUND: To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing. A single generic high-throughput workflow would greatly increase efficiency. We assessed whether genome sequencing (GS) can replace these existing workflows aimed at germline genetic diagnosis for rare disease. METHODS: We performed short-read GS (NovaSeq™6000; 150 bp paired-end reads, 37 × mean coverage) on 1000 cases with 1271 known clinically relevant variants, identified across different workflows, representative of our tertiary diagnostic centers. Variants were categorized into small variants (single nucleotide variants and indels < 50 bp), large variants (copy number variants and short tandem repeats) and other variants (structural variants and aneuploidies). Variant calling format files were queried per variant, from which workflow-specific true positive rates (TPRs) for detection were determined. A TPR of ≥ 98% was considered the threshold for transition to GS. A GS-first scenario was generated for our laboratory, using diagnostic efficacy and predicted false negative as primary outcome measures. As input, we modeled the diagnostic path for all 24,570 individuals referred in 2022, combining the clinical referral, the transition of the underlying workflow(s) to GS, and the variant type(s) to be detected. RESULTS: Overall, 95% (1206/1271) of variants were detected. Detection rates differed per variant category: small variants in 96% (826/860), large variants in 93% (341/366), and other variants in 87% (39/45). TPRs varied between workflows (79-100%), with 7/10 being replaceable by GS. Models for our laboratory indicate that a GS-first strategy would be feasible for 84.9% of clinical referrals (750/883), translating to 71% of all individuals (17,444/24,570) receiving GS as their primary test. An estimated false negative rate of 0.3% could be expected. CONCLUSIONS: GS can capture clinically relevant germline variants in a 'GS-first strategy' for the majority of clinical indications in a genetics diagnostic lab.

The Kidney Not Taken: Single-Kidney Use in Deceased Donors.

BACKGROUND: The nonuse rate for kidneys recovered from deceased donors is increasing, rising to 27% in 2023. In 10% of these cases, 1 kidney is transplanted but the mate kidney is not. STUDY DESIGN: We conducted a retrospective, single-center cohort study from December 2001 to May 2023 comparing single kidneys transplanted at our center (where the contralateral kidney was not used) to kidneys where both were transplanted separately, at least 1 of which was at our center. RESULTS: We performed 395 single deceased-donor kidney transplants in which the mate kidney was not transplanted. Primary reasons for mate kidney nonuse were as follows: no recipient located or list exhausted (33.4%), kidney trauma or injury or anatomic abnormalities (18.7%), biopsy findings (16.7%), and poor renal function (13.7%). Mean donor and recipient ages were 51.5 ± 14.2 and 60 ± 12.6 years, respectively. Mean kidney donor profile index was 73% ± 22%, and 104 donors (26.3%) had kidney donor profile index >85%. Mean cold ischemia was 25.6 ± 7.4 hours, and 280 kidneys (70.7%) were imported. Compared with 2,303 concurrent control transplants performed at our center, primary nonfunction or thrombosis (5.1% single vs 2.8% control) and delayed graft function (35.4% single vs 30.1% control) were greater with single-kidney use (both p < 0.05). Median patient and death-censored graft survival were shorter in the single group (11.6 vs 13.5 years, p = 0.03 and 11.6 vs 19 years, p = 0.003), although the former was at least double median survival on the waiting list. In patients with functioning grafts in the single-kidney group, 1-year mean serum creatinine was 1.77 ± 0.8 mg/dL and estimated glomerular filtration rate was 44.8 ± 20 mL/min/1.73 m 2 . CONCLUSIONS: These findings suggest that many mate kidneys are being inappropriately rejected, given the acceptable outcomes that can be achieved by transplanting the single kidney in appropriately selected recipients.

Effects of Soy Protein Isolate on Fragile X Phenotypes in Mice.

Obesity is a pediatric epidemic that is more prevalent in children with developmental disabilities. We hypothesize that soy protein-based diets increase weight gain and alter neurobehavioral outcomes. Our objective herein was to test matched casein- and soy protein-based purified ingredient diets in a mouse model of fragile X syndrome, Fmr1KO mice. The experimental methods included assessment of growth; 24-7 activity levels; motor coordination; learning and memory; blood-based amino acid, phytoestrogen and glucose levels; and organ weights. The primary outcome measure was body weight. We find increased body weight in male Fmr1KO from postnatal day 6 (P6) to P224, male wild type (WT) from P32-P39, female Fmr1KO from P6-P18 and P168-P224, and female Fmr1HET from P9-P18 as a function of soy. Activity at the beginning of the light and dark cycles increased in female Fmr1HET and Fmr1KO mice fed soy. We did not find significant differences in rotarod or passive avoidance behavior as a function of genotype or diet. Several blood-based amino acids and phytoestrogens were significantly altered in response to soy. Liver weight was increased in WT and adipose tissue in Fmr1KO mice fed soy. Activity levels at the beginning of the light cycle and testes weight were greater in Fmr1KO versus WT males irrespective of diet. DEXA analysis at 8-months-old indicated increased fat mass and total body area in Fmr1KO females and lean mass and bone mineral density in Fmr1KO males fed soy. Overall, dietary consumption of soy protein isolate by C57BL/6J mice caused increased growth, which could be attributed to increased lean mass in males and fat mass in females. There were sex-specific differences with more pronounced effects in Fmr1KO versus WT and in males versus females.

On-Tissue Spatial Proteomics Integrating MALDI-MS Imaging with Shotgun Proteomics Reveals Soy Consumption-Induced Protein Changes in a Fragile X Syndrome Mouse Model.

Fragile X syndrome (FXS), the leading cause of inherited intellectual disability and autism, is caused by the transcriptional silencing of the FMR1 gene, which encodes the fragile X messenger ribonucleoprotein (FMRP). FMRP interacts with numerous brain mRNAs that are involved in synaptic plasticity and implicated in autism spectrum disorders. Our published studies indicate that single-source, soy-based diets are associated with increased seizures and autism. Thus, there is an acute need for an unbiased protein marker identification in FXS in response to soy consumption. Herein, we present a spatial proteomics approach integrating mass spectrometry imaging with label-free proteomics in the FXS mouse model to map the spatial distribution and quantify levels of proteins in the hippocampus and hypothalamus brain regions. In total, 1250 unique peptides were spatially resolved, demonstrating the diverse array of peptidomes present in the tissue slices and the broad coverage of the strategy. A group of proteins that are known to be involved in glycolysis, synaptic transmission, and coexpression network analysis suggest a significant association between soy proteins and metabolic and synaptic processes in the Fmr1KO brain. Ultimately, this spatial proteomics work represents a crucial step toward identifying potential candidate protein markers and novel therapeutic targets for FXS.

Species Discrimination within the Metarhizium PARB Clade: Ribosomal Intergenic Spacer (rIGS)-Based Diagnostic PCR and Single Marker Taxonomy.

(1) Background: The entomopathogenic fungus Metarhizium anisopliae sensu lato forms a species complex, comprising a tight cluster made up of four species, namely M. anisopliae sensu stricto, M. pinghaense, M. robertsii and M. brunneum. Unambiguous species delineation within this "PARB clade" that enables both the taxonomic assignment of new isolates and the identification of potentially new species is highly solicited. (2) Methods: Species-discriminating primer pairs targeting the ribosomal intergenic spacer (rIGS) sequence were designed and a diagnostic PCR protocol established. A partial rIGS sequence, referred to as rIGS-ID800, was introduced as a molecular taxonomic marker for PARB species delineation. (3) Results: PARB species from a validation strain set not implied in primer design were clearly discriminated using the diagnostic PCR protocol developed. Using rIGS-ID800 as a single sequence taxonomic marker gave rise to a higher resolution and statistically better supported delineation of PARB clade species. (4) Conclusions: Reliable species discrimination within the Metarhizium PARB clade is possible through both sequencing-independent diagnostic PCR and sequencing-dependent single marker comparison, both based on the rIGS marker.

2023 HRS/APHRS/LAHRS guideline on cardiac physiologic pacing for the avoidance and mitigation of heart failure.

Cardiac physiologic pacing (CPP), encompassing cardiac resynchronization therapy (CRT) and conduction system pacing (CSP), has emerged as a pacing therapy strategy that may mitigate or prevent the development of heart failure (HF) in patients with ventricular dyssynchrony or pacing-induced cardiomyopathy. This clinical practice guideline is intended to provide guidance on indications for CRT for HF therapy and CPP in patients with pacemaker indications or HF, patient selection, pre-procedure evaluation and preparation, implant procedure management, follow-up evaluation and optimization of CPP response, and use in pediatric populations. Gaps in knowledge, pointing to new directions for future research, are also identified.

Single center experience and literature review of kidney transplantation from non-ideal donors with acute kidney injury: Risk and reward.

INTRODUCTION: There is limited experience transplanting kidneys from either expanded criteria donors (ECD) or donation after circulatory death (DCD) deceased donors with terminal acute kidney injury (AKI). METHODS: AKI kidneys were defined by a donor terminal serum creatinine level >2.0 mg/dL whereas non-ideal deceased donor (NIDD) kidneys were defined as AKI/DCD or AKI/ECDs. RESULTS: From February 2007 to March 2023, we transplanted 266 single AKI donor kidneys including 29 from ECDs, 29 from DCDs (n = 58 NIDDs), and 208 from brain-dead standard criteria donors (SCDs). Mean donor age (43.7 NIDD vs. 33.5 years SCD), KDPI (66% NIDD vs. 45% SCD), and recipient age (57 NIDD vs. 51 years SCD) were higher in the NIDD group (all p < .01). Mean waiting times (17.8 NIDD vs. 24.2 months SCD) and dialysis duration (34 NIDD vs. 47 months SCD) were shorter in the NIDD group (p < .05). Delayed graft function (DGF, 48%) and 1-year graft survival (92.7% NIDD vs. 95.9% SCD) was similar in both groups. Five-year patient and kidney graft survival rates were 82.1% versus 89.9% and 82.1% versus 75.2% (both p = NS) in the NIDD versus SCD groups, respectively. CONCLUSIONS: The use of kidneys from AKI donors can be safely liberalized to include selected ECD and DCD donors.

2023 HRS/APHRS/LAHRS guideline on cardiac physiologic pacing for the avoidance and mitigation of heart failure.

Cardiac physiologic pacing (CPP), encompassing cardiac resynchronization therapy (CRT) and conduction system pacing (CSP), has emerged as a pacing therapy strategy that may mitigate or prevent the development of heart failure (HF) in patients with ventricular dyssynchrony or pacing-induced cardiomyopathy. This clinical practice guideline is intended to provide guidance on indications for CRT for HF therapy and CPP in patients with pacemaker indications or HF, patient selection, pre-procedure evaluation and preparation, implant procedure management, follow-up evaluation and optimization of CPP response, and use in pediatric populations. Gaps in knowledge, pointing to new directions for future research, are also identified.

The impact of BMI on arrest characteristics and survival of patients with out-of-hospital cardiac arrest treated with extracorporeal cardiopulmonary resuscitation.

AIM: To assess the impact of body mass index (BMI) on survival to hospital discharge of patients presenting with refractory ventricular fibrillation treated with extracorporeal cardiopulmonary resuscitation. We hypothesize that due to limitations in pre-hospital care delivery, people with high BMI have worse survival after prolonged resuscitation and ECPR. METHODS: This study is a retrospective single-centre study that included patients suffering refractory VT/VF OHCA from December 2015 to October 2021 and had a BMI calculated at hospital admission. We compared the baseline characteristics and survival between patients with obesity (>30 kg/m2) and those without (≤30 kg/m2). RESULTS: Two-hundred eighty-three patients were included in this study, and two-hundred twenty-four required mechanical support with veno-arterial extracorporeal cardiopulmonary membrane oxygenation (VA ECMO). Patients with BMI > 30 (n = 133) had significantly prolonged CPR duration compared to their peers with BMI ≤ 30 kg/m2 (n = 150) and were significantly more likely to require support with VA ECMO (85.7% vs 73.3%, p = 0.015). Survival to hospital discharge was significantly higher in patients with BMI ≤ 30 kg/m2 (48% vs. 29.3%, p < 0.001). BMI was an independent predictor of mortality in a multivariable logistic regression analysis. The four-year mortality rate was low and not significantly different between the two groups (p = 0.32). CONCLUSION: ECPR yields clinically meaningful long-term survival in patients with BMI > 30 kg/m2. However, the resuscitation time is significantly prolonged, and the overall survival significantly lower compared to patients with BMI ≤ 30 kg/m2. ECPR should, therefore, not be withheld for this population, but faster transport to an ECMO capable centre is mandated to improve survival to hospital discharge.

Does dialysis modality or duration influence outcomes in simultaneous pancreas-kidney transplant recipients? Single center experience and review of the literature.

AIM: The influence of dialysis modality and duration on outcomes following simultaneous pancreas-kidney transplantation (SPKT) remains uncertain. METHODS: We performed a single-center retrospective review in 255 SPKT recipients according to dialysis modality (55 preemptive/no dialysis-ND, 70 peritoneal dialysis-PD, 130 hemodialysis-HD) and duration (55 none, 137 < 2 years, 41 2-4 years, 22 > 4 years). RESULTS: Mean follow-up was 9.4 years (median 9.2 years). Early (3-month) relaparotomy rate (20% ND vs. 36% PD/HD, p = .03) was lower in ND patients. There were no differences in early graft loss, patient survival, overall or death-censored kidney or pancreas graft survival rates (GSR) at 1 or 10 years follow-up. When analyzing dialysis duration, there were no differences in rates of pancreas thrombosis or early pancreas graft loss. Kidney delayed graft function (DGF) was lower in the ND/short dialysis groups combined (1.0%), compared to the intermediate/long dialysis groups combined (9.5%, p = .003). Early relaparotomy rates were higher with longer duration of dialysis (p = .045 between ND and >4 years of dialysis). Patient survival in the long dialysis group was 50% compared to 69.5% in the other three groups combined (p = .09). However, both overall and death-censored kidney and pancreas GSR were comparable. CONCLUSIONS: Preemptively transplanted patients had a lower incidence of kidney DGF and relaparotomy whereas patient survival was slightly lower with longer dialysis vintage prior to SPKT. Dialysis modality and duration did not influence either overall or death-censored pancreas or kidney GSR in patients with short waiting times, low KDPI donor organs, and dialysis duration up to 4 years.

Expression of placental glycans and its role in regulating peripheral blood NK cells during preeclampsia: a perspective.

Preeclampsia is a pregnancy-related multisystem disorder characterized by altered trophoblast invasion, oxidative stress, exacerbation of systemic inflammatory response, and endothelial damage. The pathogenesis includes hypertension and mild-to-severe microangiopathy in the kidney, liver, placenta, and brain. The main mechanisms involved in its pathogenesis have been proposed to limit trophoblast invasion and increase the release of extracellular vesicles from the syncytiotrophoblast into the maternal circulation, exacerbating the systemic inflammatory response. The placenta expresses glycans as part of its development and maternal immune tolerance during gestation. The expression profile of glycans at the maternal-fetal interface may play a fundamental role in physiological pregnancy changes and disorders such as preeclampsia. It is unclear whether glycans and their lectin-like receptors are involved in the mechanisms of maternal-fetal recognition by immune cells during pregnancy homeostasis. The expression profile of glycans appears to be altered in hypertensive disorders of pregnancy, which could lead to alterations in the placental microenvironment and vascular endothelium in pregnancy conditions such as preeclampsia. Glycans with immunomodulatory properties at the maternal-fetal interface are altered in early-onset severe preeclampsia, implying that innate immune system components, such as NK cells, exacerbate the systemic inflammatory response observed in preeclampsia. In this article, we discuss the evidence for the role of glycans in gestational physiology and the perspective of glycobiology on the pathophysiology of hypertensive disorders in gestation.

Scope and Consistency of Cancer Outcomes Reported in Randomized Trials in Kidney Transplant Recipients.

Introduction: Cancer is an important outcome in kidney transplantation, but the scope and consistency of how cancer is defined and reported in trials involving kidney transplant recipients has not been evaluated. This study aimed to assess the range and variability of cancer outcomes in trials involving kidney transplant recipients. Methods: The ClinicalTrials.gov database was searched from February 2000 to July 2021 to identify all randomized controlled trials (RCTs) in adult kidney transplant recipients, and which included cancer as a specified outcome. The definition of cancer, types of cancer (if any), timepoint(s) of measurement and method of aggregation were extracted for each cancer outcome. Results: Of the 819 trials in kidney transplantation, only 84 (10%) included 1 or more cancer outcomes. Of these, 72 of 84 (86%) trials included cancer as a secondary outcome and 12 of 84 (14%) considered cancer as a primary outcome. The most frequent description of cancer was "malignancy" (n = 44, 43%), without reference to diagnostic criteria, histology, grade, or stage. The 2 most common cancer types were posttransplant lymphoproliferative disorder (PTLD) (n = 20, 20%) and nonmelanoma skin cancer (n = 10, 10%). Several methods of aggregation were identified, including incidence or rate (n = 47, 46%), frequency or proportion (n = 30, 29%), and time to event (n = 5, 5%). Approximately half the cancer outcomes were measured at a single time point (n = 44, 52%). Conclusion: Cancer is an infrequently reported outcome and is inconsistently defined in trials of kidney transplant recipients. Consistent reporting of cancer outcomes using standardized definitions would provide important information on the impact of cancer in patients after kidney transplantation.

Long-term outcomes of kidney transplantation from deceased donors with terminal acute kidney injury: Single center experience and literature review.

INTRODUCTION: Long-term outcomes of kidney transplantation from deceased donors (DDKTs) with terminal acute kidney injury (AKI) are not well defined. METHODS: Single center retrospective review of DDKTs from 1/31/07-12/31/19. AKI kidneys were defined by a doubling of the donor's admission serum creatinine (SCr) level AND a terminal SCr ≥2.0 mg/dl. RESULTS: A total of 188 AKI DDKTs were performed, including 154 from brain-dead standard criteria donors (SCD). Mean donor age was 36 years and mean Kidney Donor Profile Index was 50%; mean admission and terminal SCr levels were 1.3 and 3.1 mg/dl, respectively. With a mean follow-up of 94 months (median 89 months), overall patient (both 71.3%) and graft survival (54% AKI vs. 57% non-AKI) rates were comparable to concurrent DDKTs from brain-dead non-AKI SCDs (n = 769). Delayed graft function (DGF) was higher in AKI kidney recipients (47% vs. 20% non-AKI DDKTs, p < .0001). DGF was associated with lower graft survival in recipients of both AKI and non-AKI SCD kidneys but the impact was earlier and more pronounced in non-AKI recipients. CONCLUSIONS: Despite having more than twice the incidence of DGF, kidneys from deceased donors with terminal AKI have long-term outcomes comparable to non-AKI SCD kidneys and represent a safe and effective method to expand the donor pool.

Acute lung injury and recovery in patients with refractory VT/VF cardiac arrest treated with prolonged CPR and veno-arterial extracorporeal membrane oxygenation.

AIM: Describe the lung injury patterns among patients presenting with refractory ventricular tachycardia/ventricular fibrillation out-of-hospital cardiac arrest (VT/VF OHCA) supported with veno-arterial extracorporeal membrane oxygenation (VA-ECMO) facilitated resuscitation. METHODS: In this retrospective single-center cohort study including VT/VF OHCA patients supported with VA ECMO, we compared OHCA characteristics, post-arrest computed tomography (CT) scans, ventilator parameters, and other lung-related pathology between survivors, patients who developed brain death, and those with other causes of death. RESULTS: Among 138 patients, 48/138 (34.8%) survived, 31/138 (22.4%) developed brain death, and 59/138 (42.7%) died of other causes. Successful extubation was achieved in 39/138 (28%) with a median time to extubation of 8.0 days (6.0, 11.0) in those who survived. Tracheostomy was required in 15/48 (31.3%) survivors. Chest CT obtained on all patients showed lung injury in at least one lung area in 124/135 (91.8%) patients, predominantly in the dependent posterior areas. There was no association between the number of affected areas and survival. Lung compliance was low on admission [26 (19,33) ml/cmH20], improved throughout hospitalization (p = 0.03), and recovered faster in survivors compared to those who died (p < 0.001). VA-ECMO allowed the use of lung-protective ventilation while maintaining normalized PaO2 and PaCO2. Patients treated with V-A ECMO and either IABP or Impella had lower pulmonary compliance and more affected areas on their CT compared to those treated with V-A ECMO alone. CONCLUSIONS: Lung injury is common among patients with refractory VT/VF OHCA requiring V-A ECMO, but imaging severity is not associated with survival. Reductions in lung compliance accompany post-arrest lung injury while compliance recovery is associated with survival.

Influence of donor and recipient sex on outcomes following simultaneous pancreas-kidney transplantation in the new millennium: Single-center experience and review of the literature.

INTRODUCTION: The influence of sex on outcomes following simultaneous pancreas-kidney transplantation (SPKT) in the modern era is uncertain. METHODS: We retrospectively studied 255 patients undergoing SPKT from 11/2001 to 8/2020. Cases were stratified according to donor (D) sex, recipient (R) sex, 4 D/R sex categories, and D/R sex-matched versus mismatched. RESULTS: D-male was associated with slightly higher patient (p = .08) and kidney (p = .002) but not pancreas (p = .23) graft survival rates (GSR) compared to D-female. There were no differences in recipient outcomes other than slightly higher pancreas thrombosis (8% R-female vs. 4.2% R-male, p = .28) and early relaparotomy rates in female recipients (38% R-female vs. 29% R-male, p = .14). When analyzing the 4 D/R sex categories, the two D-male groups had higher kidney GSRs compared to the two D-female groups (p = .01) whereas early relaparotomy and pancreas thrombosis rates were numerically higher in the D-female/R-female group compared to the other three groups. Finally, there were no significant differences in outcomes between sex-matched and sex-mismatched groups although overall survival outcomes were lower with female donors irrespective of recipient sex. CONCLUSIONS: The influence of D/R sex following SPKT is subject to multiple confounding issues but survival rates appear to be higher in D-male/R-male and lower in D-female/R-male categories.

Prevalencia de patologías fetales que pueden beneficiarse de intervenciones intrauterinas en un hospital de tercer nivel del Occidente de México / Prevalence of fetal pathologies that can benefit from intrauterine interventions in a third level hospital in western Mexico

Resumen OBJETIVO: Determinar la prevalencia de afecciones susceptibles de ser tratadas mediante un procedimiento intrauterino en una unidad de Medicina Materno Fetal de un hospital de tercer nivel del Occidente de México, en un periodo de nueve años. MATERIALES Y MÉTODOS: Estudio transversal y descriptivo, con revisión de los reportes de ultrasonidos obstétricos practicados en la Unidad de Medicina Materno Fetal del Hospital Civil de Guadalajara Dr. Juan I. Menchaca del 2013 al 2021, con selección de los casos de pacientes con diagnóstico de alguna afectación susceptible de ser intervenida de manera intrauterina. RESULTADOS: Durante el periodo de estudio se practicaron y registraron 103,721 ultrasonidos obstétricos, de éstos se integraron al estudio aquí publicado 257 pacientes con diagnóstico de alguna afectación susceptible de ser intervenida in útero. La prevalencia de afectaciones con posibilidad de ser intervenidas por vía intrauterina fue del 0.47% de la totalidad de pacientes valoradas. La media de edad de las pacientes fue de 24.6 años; 162 (63%) multigestas y 95 (37%) primigestas. Embarazos únicos 193 (75%) y 64 (25%) múltiples. Las semanas promedio de gestación al diagnóstico de la afectación fueron 25.6. CONCLUSIONES: En este ensayo se estimó una prevalencia de 0.47 padecimientos que pueden ser intervenidos in útero, dejando de lado muchas otros en los que los estudios no han demostrado beneficio de una cirugía fetal, ni los beneficios superan los riesgos, si se practica la cirugía de manera prenatal o posnatal.

Abstract OBJECTIVE: To determine the prevalence of conditions amenable to treatment by an intrauterine procedure in a Maternal-Fetal Medicine unit of a tertiary hospital in western Mexico over a nine-year period. MATERIALS AND METHODS: Cross-sectional and descriptive study, with review of obstetric ultrasound reports performed in the Maternal-Fetal Medicine Unit of the Civil Hospital of Guadalajara Dr. Juan I. Menchaca from 2013 to 2021, with selection of cases of patients diagnosed with any condition susceptible to intrauterine intervention. RESULTS: During the study period 103,721 obstetric ultrasounds were performed and recorded, of which 257 patients were included in the study published here with a diagnosis of a condition that could be treated in utero. The prevalence of conditions that could be treated in utero was 0.47% of all patients assessed. The mean age of the patients was 24.6 years; 162 (63%) were multigestational and 95 (37%) primigravid. Singleton pregnancies 193 (75%) and 64 (25%) multiple pregnancies. Mean weeks of gestation at diagnosis of involvement was 25.6. CONCLUSIONS: This trial estimated a prevalence of 0.47% of conditions that can be intervened in utero, leaving aside many others where studies have not demonstrated benefit of fetal surgery, nor do the benefits outweigh the risks, whether surgery is performed prenatally or postnatally.

Behavior of the Genetic Markers at Screening during the First Trimester of Pregnancy in Euploid Fetuses / Comportamento dos marcadores genéticos na triagem durante o primeiro trimestre de gravidez em fetos euploides

Abstract Objective This study aims to describe the behavior of chromosomopathy screenings in euploid fetuses. Methods This is a prospective descriptive study with 566 patients at 11 to 14 weeks of gestation. The associations between ultrasound scans and serological variables were studied. For the quantitative variables we used the Spearman test; for the qualitative with quantitative variables the of Mann-Whitney U-test; and for qualitative variables, the X2 test was applied. Significance was set at p ≤ 0.05. Results We have found that gestational age has correlation with ductus venosus, nuchal translucency, free fraction of β subunit of human chorionic gonadotropin, pregnancy-associated plasma protein-A and placental growth factor; there is also a correlation between history of miscarriages and nasal bone. Furthermore, we correlated body mass index with nuchal translucency, free fraction of β subunit of human chorionic gonadotropin, and pregnancy-associated plasma protein-A. Maternal age was associated with free fraction of β subunit of human chorionic gonadotropin and pregnancy-associated plasma protein-A. Conclusion Our study demonstrates for the first time the behavior of the biochemical and ultrasonographic markers of chromosomopathy screenings during the first trimester in euploid fetuses in Colombia. Our information is consistent with international reference values. Moreover, we have shown the correlation of different variables with maternal characteristics to determine the variables that could help with development of a screening process during the first trimester with high detection rates.

Resumo Objetivo Este estudo tem como objetivo descrever o comportamento do rastreamento de cromossomopatias em fetos euploides. Métodos Trata-se de um estudo prospectivo descritivo com 566 pacientes, entre 11 e 14 semanas de gestação. A associação entre a ultrassonografia e as variáveis sorológicas foi estudada. Para as variáveis quantitativas foi utilizado o teste de Spearman; para as qualitativas com variáveis quantitativas foi utilizado o teste U de Mann-Whitney e para as variáveis qualitativas foi aplicado o teste X2. A significância foi fixada em p ≤ 0,05. Resultados Constatou-se que a idade gestacional tem correlação com o ducto venoso, translucência nucal, fração livre da subunidade β da gonadotrofina coriônica humana, proteína plasmática A associada à gravidez e fator de crescimento placentário; há também correlação entre a história de abortos e o osso nasal. Além disso, correlacionamos o índice de massa corporal com translucência nucal, fração livre da subunidade β da gonadotrofina coriônica humana e proteína plasmática A associada à gravidez. A idade materna foi relacionada com fração livre da subunidade β da gonadotrofina coriônica humana e proteína plasmática A associada à gravidez. Conclusão Nosso estudo demonstra pela primeira vez o comportamento dos marcadores bioquímicos e ultrassonográficos de triagem de cromossomas durante o primeiro trimestre em fetos euploides na Colômbia. Nossa informação é consistente com a referência de valores internacionais. Além disso, mostram-se as relações das diferentes variáveis com as características maternas para determinar as variáveis capazes de ajudar no desenvolvimento de um processo de rastreamento durante o primeiro trimestre com alta taxa de detecção.

Behavior of the Genetic Markers at Screening during the First Trimester of Pregnancy in Euploid Fetuses.

OBJECTIVE: This study aims to describe the behavior of chromosomopathy screenings in euploid fetuses. METHODS: This is a prospective descriptive study with 566 patients at 11 to 14 weeks of gestation. The associations between ultrasound scans and serological variables were studied. For the quantitative variables we used the Spearman test; for the qualitative with quantitative variables the of Mann-Whitney U-test; and for qualitative variables, the X2 test was applied. Significance was set at p ≤ 0.05. RESULTS: We have found that gestational age has correlation with ductus venosus, nuchal translucency, free fraction of ß subunit of human chorionic gonadotropin, pregnancy-associated plasma protein-A and placental growth factor; there is also a correlation between history of miscarriages and nasal bone. Furthermore, we correlated body mass index with nuchal translucency, free fraction of ß subunit of human chorionic gonadotropin, and pregnancy-associated plasma protein-A. Maternal age was associated with free fraction of ß subunit of human chorionic gonadotropin and pregnancy-associated plasma protein-A. CONCLUSION: Our study demonstrates for the first time the behavior of the biochemical and ultrasonographic markers of chromosomopathy screenings during the first trimester in euploid fetuses in Colombia. Our information is consistent with international reference values. Moreover, we have shown the correlation of different variables with maternal characteristics to determine the variables that could help with development of a screening process during the first trimester with high detection rates.

OBJETIVO: Este estudo tem como objetivo descrever o comportamento do rastreamento de cromossomopatias em fetos euploides. MéTODOS: Trata-se de um estudo prospectivo descritivo com 566 pacientes, entre 11 e 14 semanas de gestação. A associação entre a ultrassonografia e as variáveis sorológicas foi estudada. Para as variáveis quantitativas foi utilizado o teste de Spearman; para as qualitativas com variáveis quantitativas foi utilizado o teste U de Mann-Whitney e para as variáveis qualitativas foi aplicado o teste X2. A significância foi fixada em p ≤ 0,05. RESULTADOS: Constatou-se que a idade gestacional tem correlação com o ducto venoso, translucência nucal, fração livre da subunidade ß da gonadotrofina coriônica humana, proteína plasmática A associada à gravidez e fator de crescimento placentário; há também correlação entre a história de abortos e o osso nasal. Além disso, correlacionamos o índice de massa corporal com translucência nucal, fração livre da subunidade ß da gonadotrofina coriônica humana e proteína plasmática A associada à gravidez. A idade materna foi relacionada com fração livre da subunidade ß da gonadotrofina coriônica humana e proteína plasmática A associada à gravidez. CONCLUSãO: Nosso estudo demonstra pela primeira vez o comportamento dos marcadores bioquímicos e ultrassonográficos de triagem de cromossomas durante o primeiro trimestre em fetos euploides na Colômbia. Nossa informação é consistente com a referência de valores internacionais. Além disso, mostram-se as relações das diferentes variáveis com as características maternas para determinar as variáveis capazes de ajudar no desenvolvimento de um processo de rastreamento durante o primeiro trimestre com alta taxa de detecção.

Validación de un puntaje pronóstico para malaria complicada / Validation of a prognostic score for complicated malaria

Introducción: El reconocimiento temprano de los sujetos con malaria que pueden desarrollar complicaciones es fundamental para orientar el tratamiento. Se requiere un instrumento de predicción basado en características clínicas para predecir las complicaciones. Objetivo: Desarrollar y validar una herramienta de predicción clínica y paraclínica para predecir malaria complicada. Métodos: Se reclutaron de manera secuencial sujetos con diagnóstico de malaria complicada según criterios de la Organización Mundial de la Salud. Las características clínicas que se asociaron a malaria complicada fueron identificadas e incorporadas en un modelo de predicción logístico binario en una cohorte inicial de derivación y posteriormente validadas en una cohorte diferente de sujetos con la infección. Resultados: Se analizaron 584 sujetos en la cohorte de derivación y 898 en la cohorte de validación. La incidencia de malaria complicada fue de 21,2 por ciento y 10,9 por ciento, respectivamente. Las variables asociadas con malaria complicada fueron la disnea, fiebre por más de 72 horas, hemoglobina < 13 mg/dL, bilirrubina total > 6 mg/dL, nitrógeno ureico > 20 mg/dL, y Plasmodium vivax. El área bajo la curva de características operativas del receptor para el puntaje construido con estas variables en la cohorte de derivación fue de 0,70 y en la cohorte de validación fue de 0,69. Conclusión: Un puntaje pronóstico en pacientes con malaria que evalúe la presencia de disnea, fiebre persistente, nivel de hemoglobina, bilirrubina total, nitrógeno ureico e infección por P. vivax puede ser útil para clasificar de manera oportuna y objetiva a los sujetos que pueden desarrollar complicaciones(AU)

Introduction: Early identification of subjects with malaria who may develop complications is critical to guide treatment. A predictive tool based on the clinical characteristics of the disease is required to predict complications. Objective: To develop and validate a clinical and paraclinical tool to predict complicated malaria. Methods: Subjects with a diagnosis of complicated malaria according to the World Health Organization criteria were sequentially recruited. Clinical characteristics associated with complicated malaria were identified and incorporated into a binary logistic prediction model in an initial derivation cohort and, subsequently, validated in a different cohort of subjects with the infection. Results: 584 subjects were analyzed in the derivation cohort and 898 in the validation cohort. The incidence of complicated malaria was 21.2 percent and 10.9 percent, respectively. Variables associated with complicated malaria were dyspnea, fever for more than 72 hours, hemoglobin < 13 mg/dL, total bilirubin > 6 mg/dL, urea nitrogen > 20 mg/dL and Plasmodium vivax. The area under the receiver operating characteristics curve for the score constructed with these variables in the derivation cohort was 0.70 and in the validation cohort, it was 0.69. Conclusion: A prognostic score that evaluates the presence of dyspnea, persistent fever, hemoglobin level, total bilirubin, urea nitrogen and P. vivax infection in patients with malaria may be useful to classify in a timely and objective manner subjects who may develop complications(AU)