Lysosomal Acid Lipase Deficiency Leading to Liver Cirrhosis: a Case Report of a Rare Variant Mutation.

We describe the case of a 53-year-old Brazilian man who was referred to our center due to the diagnosis of liver cirrhosis of unknown etiology. He was asymptomatic and had normal body mass index. He had dyslipidemia, and family history of myocardial infarction and stroke. Abdominal imaging tests showed liver cirrhosis features and the presence of intrahepatic calcifications. Initial investigation of the etiology of the liver disease was not elucidated, but liver biopsy showed microgoticular steatosis and cholesterol esters deposits in Kuppfer cells. The dosage of serum lysosomal acid lipase was undetectable and we found the presence of a rare homozygous mutation in the gene associated with the lysosomal acid lipase deficiency, (allele c.386A> G homozygous p.H129R). PMID: 31113597 [PubMed - in process]
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research

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Authors: Medeiros CSP, Pacheco TBF, Cavalcanti FADC, Cacho RO, Bezerra AMDS Abstract Primary Objective: To compare the level of motor, sensory and functional impairment of individuals hospitalized in a stroke unit in Brazil at the time of admission and the profile observed at hospital discharge. Design: Observational and longitudinal outcome study. Methods and Procedure: We assessed 41 patients with ischemic stroke at admission and hospital discharge by using the National Institute of Health Stroke Scale (NIHSS), Fugl-Meyer Physical Performance Scale (FM), Functional Independence Measure (FIM) and Modified Rankin S...
Source: Brain Injury - Category: Neurology Tags: Brain Inj Source Type: research
ConclusionThese cases are reported because of their rare location and presentation since few cases of bilateral cholesterol granuloma have been reported in the literature.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
Publication date: Available online 19 July 2019Source: European Journal of RadiologyAuthor(s): Claire Boudinaud, Armand Abergel, Juliette Joubert-Zakeyh, Mikael Fontarensky, Bruno Pereira, Benoit Chauveau, Jean Marc Garcier, Pascal Chabrot, Louis Boyer, Benoît MagninAbstractPurposeGiven the growing prevalence of obesity and metabolic syndrome, the management of hepatic steatosis, especially its quantification, is a major issue. We assessed the quantification of liver steatosis using four different MR methods, in order to determine the one that is best correlated with the reference method which consists of histologica...
Source: European Journal of Radiology - Category: Radiology Source Type: research
Publication date: August 2019Source: Nutrition, Metabolism and Cardiovascular Diseases, Volume 29, Issue 8Author(s): Marialaura Bonaccio, Augusto Di Castelnuovo, Simona Costanzo, Mariarosaria Persichillo, Amalia De Curtis, Chiara Cerletti, Maria Benedetta Donati, Giovanni De Gaetano, Licia Iacoviello
Source: Nutrition, Metabolism and Cardiovascular Diseases - Category: Nutrition Source Type: research
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Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
Record-breaking temperatures are expected in at least 14 different states by this weekend
Source: Health News: CBSNews.com - Category: Consumer Health News Source Type: news
CONCLUSIONS: This pilot trial established the feasibility of a randomized controlled trial comparing mirror-aided cross-education with cross-education alone for poststroke upper limb recovery. Mirror therapy did not augment cross-education when training isometrically. However, results indicate that the combination of interventions should be investigated further applying an altered training protocol. PMID: 31318745 [PubMed - in process]
Source: Health Physics - Category: Physics Authors: Tags: Am J Phys Med Rehabil Source Type: research
Aspirin is best known as an over-the-counter painkiller. But acetylsalicylic acid, as it’s called chemically, has many other health benefits, as well as side effects, in the body that have only become clear in recent years. Here’s what the latest science says about the health benefits and side effects of aspirin, as well as which conditions it may treat and those it doesn’t appear to improve. (If you are taking aspirin for any reason other than for periodic pain relief, it’s best to consult with your doctor to confirm whether the benefits outweigh the risks in your particular case.) How aspirin affe...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Drugs healthytime Source Type: news
Composite risk scores have been used for decades to identify disease risk and health status in the general population. However, current approaches often fail to identify people who would benefit from intervention or recommend unnecessary intervention. Machine learning promises to improve accuracy, ensuring targeted treatment for patients that need it and reducing unnecessary intervention. Framingham Risk Score, the gold standard for predicting the likelihood of heart disease, predicts hospitalizations with about 56% accuracy. It uses factors such as age, gender, smoking, cholesterol levels, and systolic blood pre...
Source: MDDI - Category: Medical Devices Authors: Tags: R & D Source Type: news
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