RESUMEN

Arterial thrombosis occurs when there is endothelial damage in the setting of hypercoagulability and arterial blood stasis. COVID-19 has been theorized to cause both endothelial damage and promote hypercoagulability by causing an imbalance of clotting factors. In many studies, there have been a large proportion of COVID-19 patients that suffered a thromboembolic event, in both the venous and arterial systems. Our patient, who did not have a significant past medical history, presented with a recurrent brachial artery occlusion despite medical and surgical management, and subsequently tested positive for COVID-19 late in his admission. In conclusion, there is high suspicion that there is a relationship between COVID-19 infection and recurrent arterial thrombosis.

RESUMEN

Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment. We presented the follow up of the only two Slovenian patients diagnosed with HT1. Metabolic control was monitored by measuring tyrosine, phenylalanine and succinylacetone from dried blood spots (DBSs). Retrograde screening of HT1 was performed from DBSs taken at birth using tandem mass spectrometry. First patient was diagnosed at the age of 6 months in the asymptomatic phase due to an abnormal liver echogenicity, the other presented at 2.5 months with an acute liver failure and needed a liver transplantation. The first was a compound heterozygote for a novel FAH intronic variant c.607-21A>G and c.192G>T whereas the second was homozygous for c.192G>T. At the non-transplanted patient, 66% of tyrosine and 79% of phenylalanine measurements were in strict reference ranges of 200-400 µmol/L and >30 µmol/L, respectively, which resulted in a favorable cognitive outcome at 3.6 years. On retrograde screening, both patients had elevated SA levels; on the other hand, tyrosine was elevated only at one. We showed that non-coding regions should be analyzed when clinical and biochemical markers are characteristic of HT1. DBSs represent a convenient sample type for frequent amino acid monitoring. Retrograde diagnosis of HT1 was possible after more than three years of birth with SA as a primary marker, complemented by tyrosine.

RESUMEN

Surgical pulmonary embolectomy is a procedure that is often used to rescue patients with massive pulmonary embolism (PE) and circulatory collapse that have failed or may not be ideal candidates for other systemic and endovascular treatment modalities. This procedure typically involves a sternotomy and the use of cardiopulmonary bypass (CPB), which requires full systemic anticoagulation. Here, we report the case of a surgical pulmonary embolectomy performed on venoarterial extracorporeal membrane oxygenation (VA-ECMO) rather than CPB to minimize systemic anticoagulation. The patient had suffered a cardiac arrest due to a saddle PE and required VA-ECMO which was complicated by a concomitant intracranial hemorrhage. The patient tolerated the surgical pulmonary embolectomy performed on VA-ECMO without procedure-related complications, and the ECMO support did not substantially complicate the technical performance of the procedure. In contrast to surgical pulmonary embolectomy performed on CPB, greater attention must be paid to volume status when performing the procedure on VA-ECMO since there is no blood reservoir. This case suggests cardiopulmonary support on ECMO as a viable strategy for surgical embolectomy in patients with unstable PEs in whom thrombolysis or full systemic anticoagulation are contraindicated.

RESUMEN

BACKGROUND & AIMS: Fontan-associated liver disease (FALD) has emerged as an important morbidity following surgical palliation of single ventricle congenital heart disease. In this study, non-invasive biomarkers that may be associated with severity of FALD were explored. METHODS: A retrospective cohort of paediatric patients post-Fontan who underwent liver biopsy at a high volume at a paediatric congenital heart disease centre was reviewed. RESULTS: Among 106 patients, 66% were male and 69% were Hispanic. The mean age was 14.4 ± 3.5 years, and biopsy was performed 10.8 ± 3.6 years post-Fontan. The mean BMI was 20.8 ± 5 kg/m2, with 27.4% meeting obesity criteria. Bridging fibrosis was observed in 35% of patients, and 10.4% of all patients had superimposed steatosis. Bridging fibrosis was associated with lower platelet counts (168.3 ± 58.4 vs. 203.9 ± 65.8 K/µl for congestive hepatic fibrosis score [CHFS] 0-2b, p = 0.009), higher bilirubin (1.7 ± 2.2 vs. 0.9 ± 0.7 mg/dl, p = 0.0090), higher aspartate aminotransferase-to-platelet ratio index [APRI] and fibrosis-4 [FIB-4] scores (APRI: 0.5 ± 0.3 vs. 0.4 ± 0.1, p <0.01 [AUC: 0.69] and FIB-4: 0.6 ± 0.4 vs. 0.4 ± 0.2, p <0.01 [AUC: 0.69]), and worse overall survival (median 2 years follow-up post-biopsy, p = 0.027). Regression modelling of temporal changes in platelet counts before and after biopsy correlated with fibrosis severity (p = 0.005). CONCLUSIONS: In this large, relatively homogeneous adolescent population in terms of age, ethnicity, and Fontan duration, bridging fibrosis was observed in 35% of patients within the first decade post-Fontan. Bridging fibrosis was associated with worse survival. Changes in platelet counts, even years before biopsy, and APRI/FIB-4 scores had modest discriminatory power in identifying patients with advanced fibrosis. Steatosis may represent an additional risk factor for disease progression in obese patients. Further prospective studies are necessary to develop strategies to screen for FALD in the adolescent population. LAY SUMMARY: In this study, the prevalence of Fontan-associated liver disease (FALD) in the young adult population and clinical variables that may be predictive of fibrosis severity or adverse outcomes were explored. Several lab-based, non-invasive markers of bridging fibrosis in FALD were identified, suggesting that these values may be followed as a prognostic biomarker for FALD progression in the adolescent population.

RESUMEN

INTRODUCTION: Cisplatin (CDDP) nephrotoxicity is one of the most significant complications limiting its use in cancer therapy. OBJECTIVES: This study investigated the pivotal role played by thrombin in CDDP-mediated nephrotoxicity. This work also aimed to clarify the possible preventive effect of Dabigatran (Dab), a direct thrombin inhibitor, on CDDP nephrotoxicity. METHODS: Animals were grouped as follow; normal control group, CDDP nephrotoxicity group, CDDP + Dab 15, and CDDP + Dab 25 groups. Four days following CDDP administration, blood and urine samples were collected to evaluate renal function. Moreover, tissue samples were collected from the kidney to determine apoptosis markers, oxidative stress and histopathological evaluation. An immunofluorescence analysis of tissue factor (TF), thrombin, protease-activated receptor-2 (PAR2), fibrin, pERK1/2 and P53 proteins expression was also performed. RESULTS: Thrombin, pERK, cleaved caspase-3, and oxidative stress markers were significantly elevated in CDDP-treated group. However, pretreatment of animals with either low or high doses of Dab significantly improved kidney function and decreased oxidative stress and apoptotic markers. CONCLUSION: We conclude that thrombin is an important factor in the pathogenesis of CDDP kidney toxicity via activation of ERK1/2, P53 and caspase-3 pathway, which can be effectively blocked by Dab.

Asunto(s)

Antitrombinas/farmacología , Cisplatino/efectos adversos , Dabigatrán/farmacología , Enfermedades Renales/tratamiento farmacológico , Trombina/metabolismo , Animales , Apoptosis/efectos de los fármacos , Nitrógeno de la Urea Sanguínea , Caspasa 3/metabolismo , Cisplatino/uso terapéutico , Regulación hacia Abajo/efectos de los fármacos , Riñón/patología , Enfermedades Renales/inducido químicamente , Enfermedades Renales/metabolismo , Sistema de Señalización de MAP Quinasas/efectos de los fármacos , Masculino , Neoplasias/tratamiento farmacológico , Estrés Oxidativo/efectos de los fármacos , Ratas , Proteína p53 Supresora de Tumor/metabolismo

RESUMEN

Multisystem inflammatory syndrome of children (MIS-C) continues to be a highly concerning diagnosis in those recently infected with SARS-CoV-2. The diagnosis of MIS-C cases will likely become even more challenging as vaccine uptake and natural immunity in previously infected persons leads to lower circulating rates of SARS-CoV-2 infection and will make cases sporadic. Febrile children presenting with cardiac dysfunction, symptoms overlapping Kawasaki disease or significant gastrointestinal complaints warrant a thorough screen in emergency departments, urgent care centers, and outpatient pediatric or family medicine practices. An increased index of suspicion and discussion regarding higher level of care (transferring to pediatric tertiary care centers or to intensive care) continues to be recommended. Herein we outline a broad approach with a multidisciplinary team for those meeting the case definition and believe such an approach is crucial for successful outcomes.

RESUMEN

OBJECTIVE: To develop predictive models for in-hospital mortality and length of stay (LOS) for coronavirus disease 2019 (COVID-19)-positive patients. PATIENTS AND METHODS: We performed a multicenter retrospective cohort study of hospitalized COVID-19-positive patients. A total of 764 patients admitted to 14 different hospitals within the Cleveland Clinic from March 9, 2020, to May 20, 2020, who had reverse transcriptase-polymerase chain reaction-proven coronavirus infection were included. We used LightGBM, a machine learning algorithm, to predict in-hospital mortality at different time points (after 7, 14, and 30 days of hospitalization) and in-hospital LOS. Our final cohort was composed of 764 patients admitted to 14 different hospitals within our system. RESULTS: The median LOS was 5 (range, 1-44) days for patients admitted to the regular nursing floor and 10 (range, 1-38) days for patients admitted to the intensive care unit. Patients who died during hospitalization were older, initially admitted to the intensive care unit, and more likely to be white and have worse organ dysfunction compared with patients who survived their hospitalization. Using the 10 most important variables only, the final model's area under the receiver operating characteristics curve was 0.86 for 7-day, 0.88 for 14-day, and 0.85 for 30-day mortality in the validation cohort. CONCLUSION: We developed a decision tool that can provide explainable and patient-specific prediction of in-hospital mortality and LOS for COVID-19-positive patients. The model can aid health care systems in bed allocation and distribution of vital resources.

RESUMEN

OBJECTIVES: Systemic to pulmonary shunt (commonly known as Modified Blalock-Taussig shunt) is a palliative procedure in cyanotic heart diseases to overcome inadequate blood flow to the lungs. Based on the most recent risk stratification score, the mortality and morbidity of this procedure is still high especially in neonates and over-shunting patients. We developed and implemented protocol-based management in March 2013 to better standardize the management of these patients. The aim of this study is to evaluate the effects of applying this protocol-based management in our center. METHODS: We conducted a retrospective cohort study through chart review analysis.We included all children who underwent MBTS from January 2000 till December 2015. We compared the early postoperative outcome of patients operated after the protocol-based management implementation (March 2013 till December 2015) (protocol group) with patients operated before implementing the MBTS protocoled management (control group). RESULTS: 197 patients underwent MBTS from January 2000 till December 2015. Of the 197 patients, 25 patients were in the protocol group and 172 patients were in the control group. There was a significant improvement in the postoperative course and less morbidity after protocoled management implementation as reflected in ventilation time, reintubation rate, inotropic support duration, intensive care unit ICU stay and significantly lower postoperative complications in the protocol group. Mortality of the control group versus protocol group (19.3% VS 8%) with Standardized Mortality Ratio (SMR) dropped from 2.27 before protocoled management to 0.94 after protocoled management (protocol group). CONCLUSION: The study suggests that protocoled management of patients with MBTS can improve the postoperative course and early outcome.

RESUMEN

Elevated serum ferritin level is a common finding in iron overload syndrome, autoimmune and viral hepatitis, alcoholic and nonalcoholic fatty liver diseases. High transferrin saturation is not a common finding in above diseases except for iron overload syndrome. We encountered a challenging case of 73-year-old female who presented with yellowish discoloration of skin, dark color urine and dull abdominal pain. Initial laboratory tests reported mild anemia; elevated bilirubin, liver enzymes, and transferrin saturation. We came to the final diagnosis of autoimmune hepatitis after extensive workups. Autoimmune hepatitis is a rare disease, and the diagnosis can be further complicated by a similar presentation of iron overload syndrome. Markedly elevated transferrin saturation can simulate iron overload syndrome, but a liver biopsy can guide physicians to navigate the diagnosis.

RESUMEN

In the last twenty years, the field of bronchoscopy has become increasingly more complex and invasive. It is now widely used in the management of pulmonary diseases and has the benefit of low mortality and complication rates. Overall incidence of complications and mortality reported ranges around 1% and 0.02% respectively. Common complications of bronchoscopy include pulmonary haemorrhage, desaturation, pneumothorax, and pulmonary oedema. However, facial and neck petechiae associated with subcutaneous hemorrhage post-bronchoscopy has not been reported before in the literature. We hereby report two novel cases of facial/neck petechiae post-bronchoscopy as a complication to be recognized by bronchoscopists. It is essential that bronchoscopists recognise such phenomenon as the clinical presentation is visually alarming to both the patient and clinician. It is usually self-resolving. However such presentation after bronchoscopy may trigger extensive and unnecessary investigations from the physician.

RESUMEN

Hemophagocytic lymphohistiocytosis (HLH) is a rare acute hyperinflammatory condition presenting with high fever, pancytopenia, splenomegaly with the pathologic finding of hemophagocytic lymphohistiocytosis in bone marrow and other tissues. Predominant hepatic manifestations at presentation are rare. We report a series of three cases which showcase the spectrum of liver disease as presentation in hemophagocytic lymphohistiocytosis.

RESUMEN

Surgery is often needed in patients with concurrent liver disease. The multiple physiological roles of the liver places these patients at an increased risk of morbidity and mortality. Diseases necessitating surgery like gallstones and hernia are more common in patients with cirrhosis. Assessment of severity of liver dysfunction before surgery is important and the risk benefit of the procedure needs to be carefully assessed. The disease severity may vary from mild transaminase rise to decompensated cirrhosis. Surgery should be avoided if possible in the emergency setting, in the setting of acute and alcoholic hepatitis, in a patient of cirrhosis who is child class C or has a MELD score more than 15 or any patient with significant extrahepatic organ dysfunction. In this subset of patients, all possible means to manage these patients conservatively should be attempted. Modified Child-Pugh scores and model for end-stage liver disease (MELD) scores can predict mortality after surgery fairly reliably including nonhepatic abdominal surgery. Pre-operative optimization would include control of ascites, correction of electrolyte imbalance, improving renal dysfunction, cardiorespiratory assessment, and correction of coagulation. Tests of global hemostasis like thromboelastography and thrombin generation time may be more predictive of the risk of bleeding compared with the conventional tests of coagulation in patients with cirrhosis. Correction of international normalized ratio with fresh frozen plasma does not necessarily mean reduction of bleeding risk and may increase the risk of volume overload and lung injury. International normalized ratio liver may better reflect the coagulation status. Recombinant factor VIIa in patients with cirrhosis needing surgery needs further study. Intra-operatively, safe anesthetic agents like isoflurane and propofol with avoidance of hypotension are advised. In general, nonsteroidal anti-inflammatory drug (NSAIDs) and benzodiazepines should not be used. Intra-abdominal surgery in a patient with cirrhosis becomes more challenging in the presence of ascites, portal hypertension, and hepatomegaly. Uncontrolled hemorrhage due to coagulopathy and portal hypertension, sepsis, renal dysfunction, and worsening of liver failure contribute to the morbidity and mortality in these patients. Steps to reduce ascitic leaks and infections need to be taken. Any patient with cirrhosis undergoing major surgery should be referred to a specialist center with experience in managing liver disease.