Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges.

Brazil is a middle-income country with approximately 210 million inhabitants, with around 2,900,000 births annually. Besides its extensive territorial area, the country is characterized by huge heterogeneity in many aspects, notably in socioeconomic status, education, access to healthcare, geographic mobility, different biomes, agricultural practices and diverse ethnic ancestry. These characteristics directly impact the frequency and distribution of genetic disorders and Congenital Anomalies (CA), which are the second leading cause of death in the first year of life.

Advancements in opportunistic intracranial aneurysm screening: The impact of a deep learning algorithm on radiologists' analysis of T2-weighted cranial MRI.

(1) Background: Unruptured Intracranial Aneurysms (UIAs) are common blood vessel malformations, occurring in up to 3 % of healthy adults. Magnetic Resonance Angiography (MRA) is frequently used for the screening of UIAs due to its high resolution in vascular anatomy. However, T2-Weighted Magnetic Resonance Imaging (T2WI) is a standard sequence utilized for the majority of outpatient head scans.

A systematic review of deep learning-based spinal bone lesion detection in medical images.

Spinal bone lesions encompass a wide array of pathologies, spanning from benign abnormalities to aggressive malignancies, such as diffusely localized metastases. Early detection and accurate differentiation of the underlying diseases is crucial for every patient's clinical treatment and outcome, with radiological imaging being a core element in the diagnostic pathway. Across numerous pathologies and imaging techniques, deep learning (DL) models are progressively considered a valuable resource in the clinical setting.

Silent Destruction: Fulminant Hepatitis and the Hidden Danger of Weight Loss Drugs.

Introduction: The use of natural products for therapeutic purposes is a common practice throughout the world, in part, due to the global obesity epidemic and the search for products with appetite suppression and weight loss properties, which include nutritional supplements, vitamins and minerals to herbal products. It is known that such products may be associated with various adverse health effects. Thus, the objective of this study is to report a series of cases of patients, who presented fulminant liver failure (HFI) requiring liver transplantation (LT), related to the consumption of products used for weight loss.

Liver Transplantation After Previous Vena Cava Resection: Case Report.

In some specific cases, the surgical technique involved in liver transplantation can be challenging, as, for example, in cases of Budd-Chiari syndrome. This case describes a case of liver transplantation in a patient diagnosed with Budd-Chiari syndrome due to a previous surgery that required retrohepatic vena cava resection. During the liver transplantation procedure, a cavo-atrial anastomosis was performed through transdiaphragmatic access, with a good postoperative result, showing that, although challenging, this technique is a feasible option in specific cases.

Giant hepatic hemangioma in a patient with cirrhosis: challenging to manage.

Giant hepatic hemangiomas are occasional in patients with cirrhosis. It remains a challenge to decide on the need for treatment and choose the most appropriate intervention. A 62-year-old woman was recently diagnosed with cirrhosis and complained of upper abdominal fullness, reduction in oral food intake, and weight loss of 6 kg over the last three years.

Clinicopathological Aspects and Inflammation-Immune Markers in Alcohol and/or Hepatitis C Virus-Induced Hepatocellular Carcinoma Patients Treated With Sorafenib.

Background: Tyrosine kinase inhibitors have been used to treat hepatocellular carcinoma (HCC), but the outcomes of patients under treatment vary. Since the roles of clinicopathological aspects and markers of chronic inflammation/immune homeostasis in the outcome of HCC patients treated with sorafenib are still unclear, these were the aims of this study.

Methods: Patients with alcohol-induced and/or hepatitis C virus (HCV)-induced HCC (n = 182) uniformly treated with sorafenib were included in the study.

Understanding the Elevated Lethality of COVID-19 in Liver Transplant Recipients: Does Immunosuppression Management Matter? Results from a Brazilian Multicentric Historical Cohort.

Background: Infections by SARS-CoV-2 in liver transplant recipients (LT) patients are of particular concern, notably due to perceived added risks related to immunosuppression and comorbidity burden. Current literature on this topic often relies on small, non-standardized, and geographically limited studies. This manuscript describes COVID-19 presentations and causes for elevated mortality in a large cohort of LT recipients.

Hepatobiliary phases in magnetic resonance imaging using liver-specific contrast for focal lesions in clinical practice.

Background: Challenging lesions, difficult to diagnose through non-invasive methods, constitute an important emotional burden for each patient regarding a still uncertain diagnosis (malignant x benign). In addition, from a therapeutic and prognostic point of view, delay in a definitive diagnosis can lead to worse outcomes. One of the main innovative trends currently is the use of molecular and functional methods to diagnosis.

15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report.

Rationale: Lysosomal acid lipase deficiency (LAL-D) is a poorly diagnosed genetic disorder characterized by the accumulation of cholesteryl esters and triglycerides in many tissues, leading to dyslipidemia and cardiovascular complications. In the liver, deposits are found within hepatocytes and Kupffer cells, generating microvesicular steatosis, progressive fibrosis, and cirrhosis. Sebelipase alfa is the target therapy which can improve laboratory changes and reduce the progression of liver damage, but this is not yet widely available.

Incidence and Impact of COVID-19 Cases in Brazilian Liver Transplant Recipients: An Academic, Single-center Experience.

Background: Current literature reports diverge on the impact of COVID-19 in liver transplant (LT) recipients. Literature findings often report conflicting results, relying on small sample sizes, limited ethnic variability, and nonstandardized methodologies. Notably, there are no studies on this topic regarding Latin American populations.

Refinement of the Milan Criteria: Role of α-Fetoprotein In Liver Transplantation for Hepatocellular Carcinoma.

Hepatocellular carcinoma (HCC) is the most common primary neoplasm of the liver, mainly secondary to cirrhosis caused by hepatitis C virus. Liver transplant (LT) is considered the best treatment because, in addition to removing the tumor, it also removes the underlying cirrhotic liver. The Milan criteria for LT have limitations because they do not consider the biological characteristics of the tumor.

Validation of Metroticket Score in the Preoperative Period of Liver Transplantation for Hepatocellular Carcinoma.

Hepatocellular carcinoma (HCC) is the sixth leading cause of cancer in the world, and liver transplant (LT) is a good therapeutic option in selected cases because it treats the neoplasm and the underlying disease. Recurrence after LT is usually aggressive and has low survival; thus, an adequate selection of recipients is ideal. The new models aim to assess the individual risk of HCC recurrence in patients undergoing LT and to improve post-LT survival.

Clinical impact of the Model for End Liver Disease (MELD) score on the presence of microvascular invasion and on the postoperative outcome in patients undergoing liver transplantation.

Objective: to correlate clinical and epidemiological data with the pathological analysis of liver explants from patients undergoing liver transplantation for hetapocarcinoma in the UNICAMP HC and to verify whether the MELD and MELD-Na scores are reliable factors to predict a worse post-transplant prognosis.

Methods: we studied liver transplants carried out between May 2010 and November 2017. After excluding 38 patients, we included 87, analyzing clinical and laboratory data for correlation with the outcome Microvascular Invasion (MVI).

Association of acidosis with coagulopathy and transfusion requirements in liver transplantation.

The relationship between acidosis and coagulopathy has long been described in vitro and in trauma patients, but not yet in orthotopic liver transplantation (OLT). The association of metabolic acidosis with coagulopathy and with transfusion requirements was evaluated in patients submitted to OLT. Changes in acid-base and coagulation parameters were analyzed by repeated measures.

Cryptococcal peritonitis in patients on the liver transplant waitlist: Reporting two cases with opposite outcomes.

Cryptococcus neoformans is rarely associated with peritonitis in cirrhotic patients; nevertheless, it has a high mortality rate. Early diagnosis and prompt treatment may be the determining prognostic factors. This is a report of two patients awaiting a liver transplant who had opposite outcomes after the diagnosis of spontaneous cryptococcal peritonitis.

Liver transplantation for hepatocellular carcinoma: impact of expansion criteria in a multicenter cohort study from a high waitlist mortality region.

This study aimed to compare liver transplantation (LT) outcomes and evaluate the potential rise in numbers of LT candidates with hepatocellular carcinoma (HCC) of different allocation policies in a high waitlist mortality region. Three policies were applied in two Latin American cohorts (1085 HCC transplanted patients and 917 listed patients for HCC): (i) Milan criteria with expansion according to UCSF downstaging (UCSF-DS), (ii) the AFP score, and (iii) restrictive policy or Double Eligibility Criteria (DEC; within Milan + AFP score ≤2). Increase in HCC patient numbers was evaluated in an Argentinian prospective validation set (INCUCAI; NCT03775863).

The value of morphofunctional magnetic resonance imaging with hepatospecific contrast agent in the characterization of hepatocellular carcinoma in a non-cirrhotic patient with hepatitis C.

Hepatocellular carcinoma in patients with hepatitis C in the absence of cirrhosis is uncommon. We demonstrate the importance of morphofunctional magnetic resonance imaging (MRI) with a hepatospecific contrast agent by describing an asymptomatic female patient with HCV, who presented with a nodule detected on ultrasound. She underwent inconclusive computed tomography, presenting no signs of chronic liver disease.

Diarrhea: a missed D in the 4D glucagonoma syndrome.

Glucagonoma is a rare and slow-growing pancreatic tumor that usually manifests as glucagonoma syndrome. It is mainly characterized by a typical Dermatosis named necrolytic migratory erythema (NME), Diabetes and glucagon oversecretion. Deep vein thrombosis and Depression complete this set.

Microvascular invasion in hepatocellular carcinoma: is it predictable with quantitative computed tomography parameters?

Objective: To investigate whether quantitative computed tomography (CT) measurements can predict microvascular invasion (MVI) in hepatocellular carcinoma (HCC).

Materials And Methods: This was a retrospective analysis of 200 cases of surgically proven HCCs in 125 consecutive patients evaluated between March 2010 and November 2017. We quantitatively measured regions of interest in lesions and adjacent areas of the liver on unenhanced CT scans, as well as in the arterial, portal venous, and equilibrium phases on contrast-enhanced CT scans.