Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report
ConclusionsMetreleptin may be used to control metabolic disturbances and may lead to better seizure control in children with PELD. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - October 24, 2020 Category: Pediatrics Source Type: research

Lipid status and linear relationship between total cholesterol and triglycerides in glycogen storage disease type I.
Authors: Zhang ZJ, Yuan YH, Ma MS, Hong YH, Sun ZX, Xu YW, Wei M, Qiu ZQ Abstract OBJECTIVE: Glycogen storage disease type Ia (GSDIa) is a glucose metabolic disorder. GSDIa patients are characterized by hypoglycemia, hepatomegaly, hyperlipidemia, and hyperlactacidemia. This retrospective study aimed to review the lipid status, explore lipid treatment targets, and assess preferable lipid-lowering drugs. PATIENTS AND METHODS: Clinical data on GSDIa patients' characteristics were collected. Most patients were followed-up once a year. Diet control and raw cornstarch treatment were used to maintain normal blood gluc...
Source: European Review for Medical and Pharmacological Sciences - October 23, 2020 Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research

Late-onset severe hepatic sinusoidal obstruction syndrome in an allogeneic stem cell transplant recipient: A case report
Rationale: Hepatic sinusoidal obstruction syndrome (SOS) is a rare and potentially fatal complications after hematopoietic stem cell transplantation (HSCT). Most severe SOS result in multi-organ dysfunction and are associated with a high mortality rate (>80%). Patient concerns: A 31-year-old man was diagnosed with chronic myeloid leukemia blast crisis. He presented with severe thrombocytopenia on day 42 post-HSCT (on days +42), gradually developed with painful hepatomegaly, ascites, and weight gain. Diagnoses: The abdominal computerized tomography showed hepatomegaly, hepatic congestion, periportal edema, narrow...
Source: Medicine - October 23, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

WHO 2009 Warning Signs as Predictors of Time Taken for Progression to Severe Dengue in Children.
Abstract OBJECTIVES: To identify WHO 2009 warning signs that can predict time taken for progression to severe dengue in a pediatric population. DESIGN: Prospective analytical study over 1 year and 2 months. SETTING: Tertiary care center. RESULTS: PARTICIPANTS: 350 children aged 1 mo-12 y with serologically confirmed dengue without co-morbidities/co-infections; conse-cutive sampling. PROCEDURE: At admission, clinical and laboratory details were noted. Disease progression, time of onset of each warning sign, hematocrit, and platelet counts were recorded daily till discharge/ death. If progre...
Source: Indian Pediatrics - October 15, 2020 Category: Pediatrics Authors: Sreenivasan P, Geetha S, Kumar AS Tags: Indian Pediatr Source Type: research

Bone marrow biopsy diagnostic yield in internal medicine.
CONCLUSION: Cytopenia(s), blood cythemias and monoclonal gammopathy are indications with the highest diagnostic yield. Concomitant BMA and IHC analysis should be systematically performed to increase BMB diagnostic yield in internal medicine. PMID: 33040667 [PubMed - as supplied by publisher] (Source: Postgraduate Medicine)
Source: Postgraduate Medicine - October 13, 2020 Category: Internal Medicine Tags: Postgrad Med Source Type: research

Early molecular response in East African Philadelphia chromosome-positive chronic myeloid leukaemia patients treated with Imatinib and barriers to access treatment.
Conclusion: Patients are younger, and early MR rates are lower compared to other studies. The finding of hepatomegaly as a risk factor for unfavourable early MR was described previously in West Africa. Adherence to therapy is high in the first months of treatment. Furthermore, research is needed to understand the poor MR and the common presentation of hepatomegaly. Outreach clinics might be a solution to reduce impediments to treatment. PMID: 33014131 [PubMed] (Source: Ecancermedicalscience)
Source: Ecancermedicalscience - October 6, 2020 Category: Cancer & Oncology Tags: Ecancermedicalscience Source Type: research

Giant Hepatomegaly with Spleno-testicular Enlargement in a Patient with Apolipoprotein A-I Amyloidosis: An Uncommon Type of Amyloidosis in Japan.
Authors: Yoshinaga T, Katoh N, Yazaki M, Sato M, Kametani F, Yasuda H, Watanabe K, Kawata K, Nakagawa M, Sekijima Y Abstract Hereditary systemic amyloidosis aside from transthyretin-related familial amyloid polyneuropathy is quite uncommon in Japan. We herein report a sporadic case of hereditary apolipoprotein AI (apoAI) amyloidosis. The patient was a 43-year-old Japanese man who exhibited marked hepatomegaly with spleno-testicular enlargement. While he was initially thought to have primary AL amyloidosis, a proteomics analysis revealed that the amyloid was composed of variant apoAI with an E34K variant. To date, o...
Source: Internal Medicine - October 3, 2020 Category: Internal Medicine Tags: Intern Med Source Type: research

High-Grade Epstein-Barr Virus-Negative Biphenotypic Lymphoma with Expression of B- and T-Cell Markers and Leukemia Presentation: Case Report and Literature Review
We describe a 63-year-old female who was presented with obstructive jaundice and epigastric pain of 10 days. Initial CBC revealed 43x103/ μL white blood cells, 11.2 g/dL hemoglobin, and 88x103/ μL platelets. CT abdomen revealed hepatomegaly and suspected pancreatic mass with large retroperitoneal lymph nodal mass. Peripheral smear showed 56% lymphoid cells with blast morphology. The bone marrow (BM) aspirate smear was infiltrated by 83% immature-looking cells. BM biopsy showed interstitia l to diffuse extensive infiltration by primitive-looking cells, positive for pan-B-cell antigens CD20, CD79, and PAX5 as well as t...
Source: Case Reports in Oncology - September 30, 2020 Category: Cancer & Oncology Source Type: research

Supramesocolic Approach to Roux-en-Y Gastric Bypass when Standard Inframesocolic Approach Is Not Feasible
ConclusionThe supramesocolic approach to a Roux-en-Y Gastric Bypass is a safe and effective technique when an inframesocolic approach proves difficult. (Source: Obesity Surgery)
Source: Obesity Surgery - September 29, 2020 Category: Surgery Source Type: research

Primary hepatic lymphoma in a patient with cirrhosis: a case report
ConclusionsIn this article, we report a rare presentation of non-Hodgkin lymphoma and review the current literature on clinical features, diagnosis, and management. (Source: Journal of Medical Case Reports)
Source: Journal of Medical Case Reports - September 25, 2020 Category: General Medicine Source Type: research

Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations.
In conclusion, the present study identified five novel variants of HMGCS2 that were indicated to be pathogenic in four patients affected by HMGCS2 deficiency. PMID: 32952630 [PubMed] (Source: Experimental and Therapeutic Medicine)
Source: Experimental and Therapeutic Medicine - September 23, 2020 Category: General Medicine Tags: Exp Ther Med Source Type: research

False Positivity of rK39 Test in Five Chronic Myeloid Leukemia Cases from Bihar, India: A Possible Challenge to Leishmaniasis Diagnosis.
In this study, the rK39 RDT's false positivity was observed in CML cases. It could have important implications for the differential diagnosis of VL with CML. The rK39 positive test result in CML cases was a serendipitous occurrence; this should be validated further to determine the utility of the rK39 test in the differential diagnosis of VL with CML. PMID: 32975180 [PubMed - as supplied by publisher] (Source: The American Journal of Tropical Medicine and Hygiene)
Source: The American Journal of Tropical Medicine and Hygiene - September 20, 2020 Category: Tropical Medicine Authors: Topno RK, Madhukar M, Pandey K, Kumar R, Rabidas VN, Kumar M, Agrawal K, Verma N, Yadav DP, Bimal S, Siddiqui NA, Das P Tags: Am J Trop Med Hyg Source Type: research

A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI
The PYGL gene is the only established gene known to cause glycogen storage disease type VI (GSD6), which is a rare autosomal recessive disorder associated with hepatomegaly, elevated levels of hepatic transaminases, and hypoglycemia. Extended bioinformatics analysis was performed on the exome sequencing data of 5 patients who were clinically diagnosed as having or highly suspected of having GSD, and a single heterozygous pathogenic or likely pathogenic or rare variant of uncertain significance single-nucleotide variant was identified on the PYGL gene. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - September 19, 2020 Category: Pathology Authors: Bo Liu, Bingbing Wu, Yi Lu, Ping Zhang, Feifan Xiao, Gang Li, Huijun Wang, Xinran Dong, Renchao Liu, Yuchuan Li, Xinbao Xie, Wenhao Zhou, Jianshe Wang, Yulan Lu Tags: Regular article Source Type: research

A novel recurrent 3.6-kb deletion in the PYGL gene contributes to glycogen storage disease type VI
The PYGL gene is the only established gene known to cause glycogen storage disease type VI (GSD6), which is a rare autosomal recessive disorder associated with hepatomegaly, elevated hepatic transaminases, and hypoglycemia. We performed extended bioinformatics analysis on the exome sequencing data of five patients who were clinically diagnosed as/highly-suspected of GSD and identified a single heterozygous pathogenic/likely-pathogenic (P/LP) or rare variant of uncertain significance (VUS) single nucleotide variant (SNV) on the PYGL gene. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - September 18, 2020 Category: Pathology Authors: Bo Liu, Bingbing Wu, Yi Lu, Ping Zhang, Feifan Xiao, Gang Li, Huijun Wang, Xinran Dong, Renchao Liu, Yuchuan Li, Xinbao Xie, Wenhao Zhou, Jianshe Wang, Yulan Lu Tags: Regular Article Source Type: research

Lupus hepatitis, more than just elevated liver enzymes.
Abstract Systemic lupus erythematosus (SLE), a multisystem autoimmune inflammatory disease, may involve any organs, including the liver. Liver involvement in SLE is not part of the American College of Rheumatology criteria and is relatively rare. Liver disease is usually mild, manifesting as subtle elevation of liver enzymes. Jaundice and hepatomegaly can be seen in some patients; advanced liver disease with cirrhosis is extremely rare. Precise pathology remains obscure. SLE may cause non-specific changes, including hepatocellular, cholestatic, or vascular changes. Alcohol, drugs, viral infections, metabolic disor...
Source: Scandinavian Journal of Rheumatology - September 17, 2020 Category: Rheumatology Authors: Afzal W, Haghi M, Hasni SA, Newman KA Tags: Scand J Rheumatol Source Type: research

Elevated Levels of G-CSF in Patients with Active Phase of Adult-onset Still's Disease.
Authors: Liu Y, Zhang S, Xia C, Chen J, Fan C Abstract OBJECTIVE: Neutrophilia is a hallmark of adult-onset Still's disease (AoSD). We aimed to investigate the levels of granulocyte colony-stimulating factor (G-CSF), an essential regulator of neutrophil production and function, in the pathogenesis of AoSD. METHODS: Sera were collected from 70 patients with AoSD and 20 healthy controls (HCs). The levels of G-CSF were determined by ELISA. Low-density granulocytes (LDGs) were quantified by flow cytometry. Correlations between G-CSF levels and disease activity, laboratory parameters, or LDGs levels in patients with...
Source: Journal of Rheumatology - September 17, 2020 Category: Rheumatology Tags: J Rheumatol Source Type: research

Case Report: Severe Visceral Leishmaniasis in a Patient with HIV Coinfection Undergoing Treatment for Erythema Nodosum Leprosum.
We report a case of visceral leishmaniasis (VL)/HIV coinfection in a patient undergoing regular antiretroviral therapy and treatment with thalidomide for erythema nodosum leprosum. He presented at a health service with high fever, chills, asthenia, pale skin, lower limb edema, hepatomegaly, and splenomegaly. Visceral leishmaniasis was confirmed by direct examination, and serological and molecular tests. Serum levels of Th1/Th2 cytokines were measured. The patient began treatment with liposomal amphotericin B, with good clinical response; however, VL recurred 6 months later. Treatment was reinitiated, maintaining secondary ...
Source: The American Journal of Tropical Medicine and Hygiene - September 7, 2020 Category: Tropical Medicine Authors: Aquino SR, Diniz LFB, Queiroz IT, Cunha MA, Justo AM, Silva ED, Pereira VRA, Medeiros ZM, Carmo RF Tags: Am J Trop Med Hyg Source Type: research

A Novel Predictive Model for Idiopathic Multicentric Castleman Disease: The International Castleman Disease Consortium Study.
Abstract BACKGROUND: Patients with multicentric Castleman disease (MCD) who are negative for human immunodeficiency virus and human herpesvirus 8 are considered to have idiopathic MCD (iMCD). The clinical presentation of iMCD varies from mild constitutional symptoms to life-threatening symptoms or death. The treatment strategy varies from "watchful waiting" to high-dose chemotherapy. This diverse clinical presentation calls for a classification stratification system that takes into account the severity of the disease. SUBJECTS, MATERIALS, AND METHODS: We analyzed the clinical, laboratory, and pathol...
Source: The Oncologist - August 26, 2020 Category: Cancer & Oncology Authors: Yu L, Shi M, Cai QQ, Strati P, Hagemeister F, Zhai QL, Li L, Fan X, Li J, Sun R, Zhang S, Yang H, Wang Z, Qian W, Iwaki N, Sato Y, Zhang L, Li J, Oksenhendler E, Xu-Monette ZY, Young KH Tags: Oncologist Source Type: research

Therapeutic effect of diminazene aceturate on parasitic blood fluke Schistosoma mansoni infection.
In this study, we evaluated the antiparasitic properties of diminazene against S. mansoni ex vivo and in mice harboring either chronic or early S. mansoni infection. In vitro, we monitored phenotypic and tegumental changes as well as the effects of the drug on pairing and egg production. In a mouse infected with either adult (chronic infection) or immature (early infection) worms, diminazene was administered intraperitoneally (10-100 mg/kg) or by oral gavage (100-400 mg/kg), and we studied the influence of drug on worm burden and egg production. Liver and spleen pathologies and serum aminotransferase levels were also analy...
Source: Antimicrobial Agents and Chemotherapy - August 16, 2020 Category: Microbiology Authors: de Brito MG, Mengarda AC, Oliveira GL, Cirino ME, Silva TC, de Oliveira RN, Allegretti SM, de Moraes J Tags: Antimicrob Agents Chemother Source Type: research

A patient with atypical presentation of chronic hepatosteatosis and developmental delay harboring a novel variant in the CPT1A gene.
We present an atypical case of an 8-year-old male with CPT1A deficiency, developmental delay, autistic spectrum disorder and liver cirrhosis. His newborn screening test suggested CPT1A deficiency but confirmatory biochemical testing was not conclusive. The patient never experienced a metabolic crisis. At age six, hepatomegaly was detected. Further investigations showed transaminitis, hepatosteatosis and cirrhosis. Repeat acylcarnitine profile and total/free carnitine were consistent with CPT1A deficiency. The CPTI enzyme activity was 18% of normal on fibroblast enzyme assay. A novel homozygous variant in the CPT1A gene, c....
Source: European Journal of Medical Genetics - August 7, 2020 Category: Genetics & Stem Cells Authors: Boonsimma P, Crosby K, Mohan P, Puscasiu E, Tanpaiboon P Tags: Eur J Med Genet Source Type: research

Case Report: Autochthonous Case of Human Visceral Leishmaniasis in the West Bank, Palestine.
In conclusion, early detection of VL infection followed by appropriate treatment protocols is essential to saving the patient. PMID: 32720633 [PubMed - as supplied by publisher] (Source: The American Journal of Tropical Medicine and Hygiene)
Source: The American Journal of Tropical Medicine and Hygiene - July 26, 2020 Category: Tropical Medicine Authors: Al-Jawabreh A, Ereqat S, Dumaidi K, Nasereddin A, Sawalha S, Al-Jawabreh H, Al-Jawabreh A Tags: Am J Trop Med Hyg Source Type: research

Eicosapentaenoic acid-containing polar lipids from seaweed Susabinori (Pyropia yezoensis) alleviate hepatic steatosis in obese db/db mice.
In this study, we tested whether feeding SNL to db/db mice protects them from developing obesity-induced hepatic steatosis. After four weeks of feeding, hepatomegaly, hepatic steatosis, and hepatic injury were markedly alleviated in SNL-fed db/db mice. These effects were partly attributable to the suppression of activities and mRNA expressions of lipogenic enzymes and enhanced levels of adiponectin due to the SNL diet. Additionally, mRNA expression of monocyte chemoattractant protein-1, an inflammatory chemokine, was markedly suppressed, and the mRNA levels of PPARδ, the anti-inflammatory transcription factor, were s...
Source: Archives of Biochemistry and Biophysics - July 21, 2020 Category: Biochemistry Authors: Yanagita T, Tsuge K, Koga M, Inoue N, Nagao K Tags: Arch Biochem Biophys Source Type: research

Prospective evalution of pregnant women with suspected acute toxoplasmosis treated in a reference prenatal care clinic at a university teaching hospital in Southern Brazil.
This study was conducted in a high-risk prenatal care outpatient clinic of a university teaching hospital. Pregnant women screened for specific IgM and IgG anti -T. gondii, attended from January 2009 to August 2018 were included. From 530 suspected patients, 218 were followed up and they presented positive IgM and IgG anti- T. gondii. From these patients, 83 (38.0%) had low IgG avidity, 39 (18%) seroconverted in the second or third trimester of pregnancy, 19 (8.7%) had no avidity test, 69 (31.6%) had high IgG avidity after 16 weeks of gestation, five had recurrent chorioretinitis (2.2%) and three (1.3%) were seropositive t...
Source: Revista do Instituto de Medicina Tropical de Sao Paulo - July 17, 2020 Category: Tropical Medicine Authors: Evangelista FF, Mantelo FM, Lima KK, Marchioro AA, Beletini LF, Souza AH, Santana PL, Riedo CO, Higa LT, Guilherme ALF Tags: Rev Inst Med Trop Sao Paulo Source Type: research

Repeatedly heated mix vegetable oils-induced atherosclerosis and effects of Murraya koenigii
Statins are considered as standard drugs to control cholesterol levels, but their use is also associated with renal hypertrophy, hemorrhagic stroke, hepatomegaly, and myopathy. Murraya koenigii is an herb that is... (Source: BMC Complementary and Alternative Medicine)
Source: BMC Complementary and Alternative Medicine - July 14, 2020 Category: Complementary Medicine Authors: Gul Ambreen, Afshan Siddiq, Kashif Hussain, Abdul Saboor Hussain and Zara Naz Tags: Research article Source Type: research

Berardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association.
We report a 30-year-old female patient with diabetes who has acromegaloid features, prominent umbilicus, prominent muscles, prominent subcutaneous veins, and gross hepatomegaly. Near-total loss of subcutaneous fat was confirmed by whole-body magnetic resonance imaging and laboratory data revealed significant hypertriglyceridemia, uncontrolled diabetes mellitus, and heavy proteinuria with stage IIIa chronic kidney disease. Her blood film revealed thrombocytosis that on further evaluation by bone marrow biopsy was confirmed to be a myeloproliferative neoplasm (MPN); essential thrombocytosis (ET). She also had skin lesions th...
Source: Oman Medical Journal - July 12, 2020 Category: Middle East Health Tags: Oman Med J Source Type: research

Co-Inheritance of alpha-thalassemia and sickle cell disease in a cohort of Angolan pediatric patients.
Abstract The aim of this study was to explore the association between alpha-thalassemia, fetal hemoglobin, hematological indices, and clinical adverse events in Angolan sickle cell disease pediatric patients. A total of 200 sickle cell disease (SCD) children were sampled in Luanda and Caxito. A venous blood sample was collected and used for hematological analyses, fetal hemoglobin quantification, and genotyping of 3.7 kb alpha-thalassemia deletion by GAP-PCR. The frequency of the 3.7 kb alpha-thalassemia deletion in homozygosity was 12.5% and in heterozygosity was 55.0%. An increase in alpha-thalassemia frequency ...
Source: Molecular Biology Reports - July 5, 2020 Category: Molecular Biology Authors: Santos B, Delgadinho M, Ferreira J, Germano I, Miranda A, Arez AP, Faustino P, Brito M Tags: Mol Biol Rep Source Type: research

Disseminated Leishmaniasis Due to Using Immunosuppression Drugs: A Case Report.
In this report, we will present the symptoms and manifestations of this disease to reduce late detection and exacerbating factors. The patient was a three-year-old girl from Tehran, Iran who had ascites and hepatomegaly. When she was 9 month-old, she was diagnosed as autoimmune hepatitis after liver biopsy and she was treated with immunosuppressive drugs (Azathioprine, prednisolone, and cyclosporine) for 22 months, but later she suffered from fever, pancytopenia, and hepatosplenomegaly. Then a bone marrow biopsy was done for her. There was a large amount of Leishman body in her bone marrow and treatment for Kala-azar was s...
Source: Iranian Journal of Parasitology - July 1, 2020 Category: Parasitology Tags: Iran J Parasitol Source Type: research

A novel SCN1A mutation: A case report
Conclusion: Variant mutations of DS should be kept in mind and diagnostic genetic testing should be done in patients with neuromotor developmental retardation starting with afebrile seizures. In DS, hepatomegaly is not an expected condition. Maybe this new mutation might have caused hepatomegaly. (Source: Journal of Pediatric Neurosciences)
Source: Journal of Pediatric Neurosciences - June 29, 2020 Category: Neuroscience Authors: Mahmut Aslan Bilge Ozgor Serkan Kirik Serdal Gungor Source Type: research

Aflatoxicosis in cattle: clinical findings and biochemical alterations.
This study elucidates the critical and constructive measurements needed for the prevention of the AFs hazardous effects to livestock for the future control of AF outbreaks. Conducting series of diagnostic assays reflect the marked health condition alterations in the biochemical and antioxidant status of the AF-intoxicated cattle. PMID: 32594430 [PubMed - as supplied by publisher] (Source: Environmental Science and Pollution Research International)
Source: Environmental Science and Pollution Research International - June 26, 2020 Category: Environmental Health Authors: Elgioushy MM, Elgaml SA, El-Adl MM, Hegazy AM, Hashish EA Tags: Environ Sci Pollut Res Int Source Type: research

Hemophagocytic Lymphohistiocytosis in Children: Clinical Profile and Outcome
Conclusions: Infections were the most common triggers for HLH of which tropical infectious agents constituted the majority. Treatment with steroids alone or regimens without cytotoxic drugs may result in resolution of secondary HLH with mild to moderate disease activity. Without stem cell transplant, primary HLH has a high mortality rate. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - June 24, 2020 Category: Hematology Tags: Online Articles: Original Articles Source Type: research

Infantile hepatic hemangioendothelioma associated with pulmonary artery hypertension and cardiac insufficiency successfully treated with transcatheter arterial embolization and propranolol: A case report
Conclusion: Transcatheter arterial embolization combined with propranolol is an effective treatment for life-threatening infantile hepatic hemangioendothelioma. (Source: Medicine)
Source: Medicine - June 12, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Regulation of Hox and ParaHox Genes by Perfluorochemicals in Mouse Liver.
In conclusion, PFCs induced mRNA expression of several Hox genes such as Hoxb7, c5 and d10, mostly through the activation of PPARα and/or Nrf2 signaling. PMID: 32534105 [PubMed - as supplied by publisher] (Source: Toxicology)
Source: Toxicology - June 9, 2020 Category: Toxicology Authors: Zhang Y, Le Y, Bu P, Cheng X Tags: Toxicology Source Type: research

Toll-like receptor 7-driven lupus autoimmunity induces hypertension and vascular alterations in mice
Conclusion: Our results demonstrate that TLR7 activation induces the development of hypertension and vascular damage in BALB/c mice, and further underscore the increased vascular inflammation and oxidative stress, mediated in part by IL-17, as key factors contributing to cardiovascular complications in this TLR7-driven lupus autoimmunity model. (Source: Journal of Hypertension)
Source: Journal of Hypertension - June 7, 2020 Category: Cardiology Tags: ORIGINAL PAPERS: Organ damage Source Type: research

Commentary: Pick's Disease picks the chicken. Or the egg?
It's the chicken. It's always been the chicken. Or the egg? The egg comes first. In constrictive pericarditis (CP), a condition in which chronic fibrous thickening of the pericardium impairs diastolic filling of the heart, tricuspid valve (TV) disease is often present and harbinger of underlying right heart dysfunction. The symptoms may progress to ascites and hepatomegaly and the eponym “Pick's disease” was attributed in 1896.1 The trouble with Pick's disease is that it remains relatively uncommon and it's true prevalence unknown. (Source: Seminars in Thoracic and Cardiovascular Surgery)
Source: Seminars in Thoracic and Cardiovascular Surgery - May 24, 2020 Category: Cardiovascular & Thoracic Surgery Authors: Matthew L. Goodwin, Nahush A. Mokadam Tags: ADULT – Commentary Source Type: research

Hepatotoxic pyrrolizidine alkaloids induce DNA damage response in rat liver in a 28-day feeding study.
In conclusion, 1,2-unsaturated hepatotoxic PA induced cell cycle regulation processes associated with DNA damage response. Similar effects were observed for all hepatotoxic PA. Effects were observed in a dose range inducing no histopathological alterations and no increase in liver enzymes. Therefore, transcriptomics studies identified changes in expression of genes known to be involved in response to genotoxic compounds at PA doses relevant to humans under worst case exposure scenarios. PMID: 32419051 [PubMed - as supplied by publisher] (Source: Archives of Toxicology)
Source: Archives of Toxicology - May 16, 2020 Category: Toxicology Authors: Ebmeyer J, Rasinger JD, Hengstler JG, Schaudien D, Creutzenberg O, Lampen A, Braeuning A, Hessel-Pras S Tags: Arch Toxicol Source Type: research

Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
We report a five-year-old male patient who presented a severe episode of acute liver failure (ALF). Exome sequencing identified compound heterozygous pathogenic/likely pathogenic variants in the NGLY1 gene: NM_018297.3:c.1891del, p.(Gln631Serfs*7) in exon 12 and NM_018297.3:c.531dup, p.(Asn178Glnfs*9) in exon 4. Serology for the most frequent viral hepatitis infections, autoimmune panel, and investigations for metabolic or toxic causes were also normal or negative. Hepatic disease resolved favorably after 46 days. Liver function tests and elastography remains normal after a 2-year follow-up. This is the first report of a r...
Source: European Journal of Medical Genetics - May 14, 2020 Category: Genetics & Stem Cells Authors: Rios-Flores IM, Bonal-Pérez MÁ, Castellanos-González A, Velez-Gómez E, Bertoli-Avella AM, Bobadilla-Morales L, Peña-Padilla C, Appendini-Andrade V, Corona-Rivera A, Romero-Valenzuela I, Corona-Rivera JR Tags: Eur J Med Genet Source Type: research

Schistosoma mansoni granulomas in the skeletal striated muscles in the murine model of neuroschistosomiasis: histological findings.
We describe here, for the first time in the literature, injuries in the skeletal musculature due to Schistosoma mansoni nfection. PMID: 32401896 [PubMed - as supplied by publisher] (Source: Memorias do Instituto Oswaldo Cruz)
Source: Memorias do Instituto Oswaldo Cruz - May 14, 2020 Category: Infectious Diseases Authors: Fidelis TAA, Brasileiro-Filho G, Parreiras PM, Coelho PMZ, Araujo N, Chaud MV, Baldo DA, Dos Santos NB, Lambertucci JR Tags: Mem Inst Oswaldo Cruz Source Type: research

Massive Hepatomegaly Secondary to Amyloidosis with Normal Liver Chemistries
We report a case of a 50-year-old male who presented to our gastroenterology clinic with marked hepatomegaly secondary to hepatic amyloidosis, in concert with bone marrow involvement and nephrotic syndrome. Biopsies in conjunction with Congo red staining demonstrated 95% replacement of hepatic structure and 80% replacement of bone marrow with amyloid deposition. Despite these findings, liver chemistries, renal function, and blood count were normal. Our case presents not only the rare finding of primary hepatic amyloidosis but also an atypical presentation of this disorder. Although rare, AL amyloidosis should be in a diffe...
Source: Case Reports in Gastroenterology - May 13, 2020 Category: Gastroenterology Source Type: research

Congenital Hepatic Fibrosis in Children and Adults: Clinical Manifestations, Management, and Outcome-Case Series and Literature Review.
Conclusions: Serious complications of portal hypertension developed in children requiring liver transplantation, while adults often had mild-to-moderate liver injuries upon onset. Adults with CHF varied a lot in clinical manifestations. Multiorgan involvement and unusual course are helpful to make a diagnosis. Timely histological assessment by liver biopsy and multidisciplinary cooperation are crucial for definitive diagnosis and early intervention. PMID: 32382272 [PubMed] (Source: Gastroenterology Research and Practice)
Source: Gastroenterology Research and Practice - May 10, 2020 Category: Gastroenterology Tags: Gastroenterol Res Pract Source Type: research

Symptom relief and quality of life after combined partial hepatectomy and cyst fenestration in highly symptomatic polycystic liver disease
Polycystic liver disease can cause severe symptomatic hepatomegaly. Combined partial hepatectomy and cyst fenestration can be performed to reduce liver volume and symptom burden. We aimed to assess change in symptom relief and quality of life 6 months after partial hepatectomy and cyst fenestration in polycystic liver disease patients. (Source: Surgery)
Source: Surgery - May 9, 2020 Category: Surgery Authors: Lucas H.P. Bernts, Myrte K. Neijenhuis, Marie E. Edwards, Jeff A. Sloan, Jenna Fischer, Rory L. Smoot, David M. Nagorney, Joost P.H. Drenth, Marie C. Hogan Source Type: research

FDG Hepatic Superscan Due to Metastatic Infiltration of Prostate Cancer
A 69-year-old man with prostate cancer presented to the hospital with 2 weeks’ history of fever, abdominal distension, and fatigue. Laboratory findings showed signs of acute liver failure, and marked elevation of lactate dehydrogenase and tumor marker levels. Abdominal CT showed hepatomegaly with multiple hypodense lesions in both lobes, suggesting metastases. FDG PET/CT scan shows hypermetabolism unusually in the liver with significantly suppressed heart and brain activity, reminiscent of an FDG hepatic superscan. The hypermetabolic lesions confirmed with Tru-Cut needle biopsy of the liver as metastasis of prostate ...
Source: Clinical Nuclear Medicine - May 8, 2020 Category: Nuclear Medicine Tags: Interesting Images Source Type: research

In vitro effects of Pueraria extract on ethanol-exposed microglia and neurons.
Abstract Predominant health impacts from alcoholism are chronic neurologic deficits and hepatic dysfunction. Pueraria extract (PE) is a solution obtained from the dried root of Pueraria lobate and can reverse alcohol-induced hepatic damage. The present study aimed to elucidate the effects of PE on ethanol-induced injury in microglia and neurons. To confirm the reliability of the experimental approach, an in vivo demonstration of PE activity was used to verify its impact on hepatic damage in mice exposed to ethanol (ETOH). Subsequently, an in vitro assay was used to verify the effects of PE on ETOH-exposed microgli...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - May 3, 2020 Category: Drugs & Pharmacology Authors: Jiang B, Yang W, Chen L, Wang S, Chen S, Bao Y, Chen Q, Wang Q, Asakawa T Tags: Biomed Pharmacother Source Type: research

Si-Wei-Qing-Gan-Tang Improves Non-Alcoholic Steatohepatitis by Modulating the Nuclear Factor- κB Signal Pathway and Autophagy in Methionine and Choline Deficient Diet-Fed Rats
This study aimed to explore the effect and mechanisms of SWQGT against NASH. A network pharmacology approach was used to predict the potential mechanisms of SWQGT against NASH. Then a rat model of NASH established by feeding the methionine and choline deficient (MCD) diet was used to verify the effect and mechanisms of SWQGT on NASH in vivo. SWQGT (1 g/kg/d and 3 g/kg/d) were given by intragastric administration. Body weight, liver weight, serum biochemical indicators, liver triglyceride and total cholesterol were all measured. Tumor necrosis factor-α (TNF-α), Interleukin (IL)-1β, IL-6 levels in the livers...
Source: Frontiers in Pharmacology - April 30, 2020 Category: Drugs & Pharmacology Source Type: research

DnaJ-PKAc fusion induces liver inflammation in a zebrafish model of fibrolamellar carcinoma [RESEARCH ARTICLE]
This article has an associated First Person interview with the first author of the paper. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - April 29, 2020 Category: Biomedical Science Authors: de Oliveira, S., Houseright, R. A., Korte, B. G., Huttenlocher, A. Tags: Rare diseases, Zebrafish as a Disease Model RESEARCH ARTICLE Source Type: research

Pediatric chronic myeloid leukemia: A single-center experience
Conclusion: Pediatric CML in India is comparable with Western countries regarding epidemiological characteristic, clinical presentations, and tolerance of imatinib. As there is a paucity of universal literature regarding pediatric CML (especially data from Southeast Asian region), this article may fill up that space. (Source: Journal of Cancer Research and Therapeutics)
Source: Journal of Cancer Research and Therapeutics - April 28, 2020 Category: Cancer & Oncology Authors: Irappa Madabhavi Apurva Patel Gaurang Modi Asha Anand Harsha Panchal Sonia Parikh Source Type: research

The Efficacy of Cladribine (2-CdA) in Advanced Systemic Mastocytosis
AbstractSystemic mastocytosis (SM) is a rare clonal disorder with multi-organ involvements and shortened life expectancy. To date, no curative treatment for SM exists. Cladribine (2-CdA) is a purine analogue showing activity against neoplastic mast cells and its use was found to be effective in some patients with SM. Nine patients (six males and three females) with advanced SM at median age of 63  years (range 33–67) who received at least one course of 2-CdA were included in a retrospective analysis. Study patients were classified as having aggressive SM (ASM;n = 7) and SM with an associated hemato...
Source: Indian Journal of Hematology and Blood Transfusion - April 14, 2020 Category: Hematology Source Type: research

An Infant with Severe Anemia and Hypoalbuminemia.
Abstract We discuss the case of a two-month-old girl admitted with complaints of progressive pallor, generalized body swelling and pale colored stool since the neonatal period. On examination, severe pallor, chubby cheeks and moderate hepatomegaly were noted. Investigations revealed isolated anemia, transaminitis, conjugated hyperbilirubinemia, prolonged prothrombin time and hyperlipidemia. She died due to severe sepsis, shock, and pulmonary hemorrhage. An autopsy revealed characteristic histopathology findings of cystic fibrosis in the liver, lungs, and pancreas. Genetic analysis performed on autopsy tissue was p...
Source: Indian Pediatrics - April 14, 2020 Category: Pediatrics Authors: Kumar J, Chatterjee D, Lal SB, Kumar P Tags: Indian Pediatr Source Type: research

Single-Center Experience With Epigenetic Treatment for Juvenile Myelomonocytic Leukemia
Conclusion: Our data show that AZA monotherapy is safe and effective in controlling disease both in upfront and relapsed patients in order to proceed to HSCT. (Source: Frontiers in Oncology)
Source: Frontiers in Oncology - April 8, 2020 Category: Cancer & Oncology Source Type: research

Giant liver fibrous tumours metastatic from atypical recurrent meningeal neoplasia
A 71-year-old woman presented to the emergency room of an academic hospital for biliary vomit of one week duration. Her past medical history was remarkable for a recurrent atypical meningeal neoplasia, diagnosed ten years earlier, treated with surgical excision and radiotherapy in 2008, then only with radiotherapy in2013, 2015, 2017. Blood tests revealed increased serum gamma-glutamyltransferase and alkaline phosphatase. At physical examination, hepatomegaly was noted; abdominal ultrasound revealed multiple inhomogeneous hypo-echoic hepatic lesions (the largest 11  cm in diameter). (Source: Digestive and Liver Disease)
Source: Digestive and Liver Disease - April 4, 2020 Category: Gastroenterology Authors: Cristina Rigamonti, Micol Giulia Cittone, Mattia Bellan, Renzo Boldorini Tags: Image of the Month Source Type: research