The Prognostic Significance of the BMI-1 and BAALC Genes in Adult Patients with Acute Myeloid Leukemia
AbstractThe aim of this work is to investigate the different expression patterns of B cell-specifics moloney murine Leukemia virus integration site-1 (BMI-1) and brain and acute leukemia, cytoplasmic (BAALC) genes, their prognostic and clinical significance in newly diagnosed cytogenetically heterogenous adult acute myeloid leukemia patients. BMI-1 and BAALC expression was detected in the bone marrow of patients using quantitative real-time reverse transcription polymerase chain reaction with cut off value set at 50th percentile for both genes. BMI-1 and BAALC overexpression was detected in 50% of cases which suggest their...
Source: Indian Journal of Hematology and Blood Transfusion - March 30, 2020 Category: Hematology Source Type: research

High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified.
Abstract Gaucher disease (GD) is a common lysosomal storage disorder caused by deficiency of glucocerebrosidase (GCase) due to the pathogenic variants in the GBA gene. The aim of this study was to evaluate the performance of high risk screening program for GD by measuring the enzyme activities of GCase and chitotriosidease in dried blood spots of patients with splenomegaly and/or thrombocytopenia. A total of 787 subjects (364 females and 423 males) with unexplained splenomegaly and/or thrombocytopenia were enrolled in this study from May 2016 to Aug 2019. The cutoff value of GCase activity was set as less than 3.0...
Source: International Journal of Clinical Chemistry - March 9, 2020 Category: Chemistry Authors: Huang Y, Jia X, Tang C, Liu S, Sheng H, Zhao X, Zeng C, Liu L Tags: Clin Chim Acta Source Type: research

Clonal evolution after allogeneic stem cell transplantation: the case of myelofibrosis
Myelofibrosis (MF) is a clonal myeloproliferative neoplasm (MPN) that occurs in a primary form (PMF), or develops during progression of essential thrombocythemia (ET, post-ET MF) or polycythemia vera (PV, post-PV MF). MF results in insufficient hematopoiesis, bone marrow fibrosis, and extramedullary hematopoiesis. It can be accompanied by splenomegaly, hepatomegaly, pulmonary fibrosis, and constitutional symptoms. Circulating blasts are observed. Although the clinical course is heterogeneous, the prognosis of MF is poor with a high rate of transformation into blast phase. (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - March 5, 2020 Category: Hematology Authors: Maximilian Christopeit, Anita Badbaran, Malik Alawi, Johanna Flach, Boris Fehse, Nicolaus Kr öger Source Type: research

What is the relevance of an ambulatory quick diagnosis unit or inpatient admission for the diagnosis of pancreatic cancer? A retrospective study of 1004 patients
Quick diagnosis units (QDU) have become an alternative hospital-based ambulatory medicine strategy to inpatient hospitalization for potentially serious illnesses in Spain. Whether diagnosis of pancreatic cancer is better accomplished by an ambulatory or inpatient approach is unknown. The main objective of this retrospective study was to examine and compare the diagnostic effectiveness of a QDU or inpatient setting in patients with pancreatic cancer. Patients with a diagnosis of pancreatic adenocarcinoma who had been referred to a university, tertiary hospital-based QDU or hospitalized between 2005 and 2018 were eligible. ...
Source: Medicine - March 1, 2020 Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research

Unilateral pulmonary venous atresia: A rare cause of recurrent hemoptysis
We report a 3-year-old boy with recurrent hemoptysis for 2 years. The child had tachycardia, tachypnea, tender hepatomegaly, and left-sided decreased air entry with crepitations. Coagulation and Koch's workup was negative. X-ray of the chest showed a small left hemithorax. Computed tomography with angiography showed left unilateral PVA with pulmonary artery hypoplasia and dysplastic left lung. The child has been posted for left pneumonectomy. Although uncommon, PVA should be diagnosed early to prevent life-threatening complications such as hemoptysis and pulmonary hypertension. The patient can be managed conservatively...
Source: Lung India - February 27, 2020 Category: Respiratory Medicine Authors: Shagun Jyotin Shah Chandrahas T Deshmukh Jane J E David Moushmi M Hosalkar Source Type: research

Distribution of BCR –ABL1 Transcript Variants in Nigerians with Chronic Myeloid Leukemia
AbstractThe distribution ofBCR –ABL1 transcript variants e13a2 ( “b2a2”) and e14a2 (“b3a2”) in Nigerians with chronic myeloid leukemia (CML) had not been previously studied. In addition, there is paucity of data on the impact ofBCR –ABL1 transcript variants on clinical presentation and survival in CML patients in Nigeria. TheBCR –ABL1 transcript variants were analyzed in 230 Imatinib-treated CML patients at diagnosis. Patients with incomplete data (n  = 28), e19a2 (n = 3) and e1a2 (n = 1) were excluded from analysis of transcript variant on...
Source: Indian Journal of Hematology and Blood Transfusion - February 25, 2020 Category: Hematology Source Type: research

NRF2 Activates Growth Factor Genes and Downstream AKT Signaling to Induce Mouse and Human Hepatomegaly
This study identified the oxidative stress response transcription factor NRF2 as a common mediator of hepatomegaly. NRF2 activation results in elevated expression of several growth factors that belong to the Platelet-derived growth factor (PDGF) and epidermal growth factor (EGF) families. These growth factors are made by hepatocytes and activate their receptors in an autocrine fashion to stimulate the accumulation of glycogen and lipid that lead to hepatocytes and liver enlargement. The protein kinase AKT plays a key role in this process and its inhibition leads to reversal of hepatomegaly. (Source: Journal of Hepatology)
Source: Journal of Hepatology - February 24, 2020 Category: Gastroenterology Authors: Feng He, Laura Antonucci, Shinichiro Yamachika, Zechuan Zhang, Koji Taniguchi, Atsushi Umemura, Georgia Hatzivassiliou, Merone Roose-Girma, Miguel Reina-Campos, Angeles Duran Molina, Maria T. Diaz-Meco, Jorge Moscat, Beicheng Sun, Michael Karin Source Type: research

Acromegaly with congenital generalized lipodystrophy – two rare insulin resistance conditions in one patient: a case report
AbstractBackgroundLipodystrophies are a group of diseases which are characterized by abnormal adipose tissue deposition and are frequently associated with metabolic changes. Congenital generalized lipodystrophy is an autosomal recessive syndrome, with a prevalence
Source: Journal of Medical Case Reports - February 21, 2020 Category: General Medicine Source Type: research

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia
This study aimed ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 11, 2020 Category: Internal Medicine Authors: Yoo-Mi Kim, Jin-Ho Choi, Beom-Hee Lee, Gu-Hwan Kim, Kyung-Mo Kim and Han-Wook Yoo Tags: Research Source Type: research

Ayurvedic approach for management of Wilson's disease: A case report
Publication date: Available online 7 February 2020Source: Journal of Ayurveda and Integrative MedicineAuthor(s): Tarun Kumar, Anup ThakarAbstractWilson's disease betides due to mutation in ATP-7B that leads to snagging in copper transport by the hepatic lysosomes resulted in the deposition of copper in the brain, liver, kidney or skeletal system. The symptoms are jaundice, edema in legs, ascites, Kayser-Fleischer rings, dysarthria, dysphagia, ataxia, dyskinesia, and muscle spasticity. Current therapeutic modalities for the management of Wilson's disease include zinc, trientine, penicillamine and ammonium tetrathiomolybdate...
Source: Journal of Ayurveda and Integrative Medicine - February 8, 2020 Category: Complementary Medicine Source Type: research

Acute Myocarditis in Children: An Overview of Treatment and Recent Patents.
CONCLUSIONS: This article reviews the current literature regarding etiology, clinical manifestations, diagnosis, and management of acute myocarditis in children. PMID: 32013855 [PubMed - as supplied by publisher] (Source: Recent Patents on Inflammation and Allergy Drug Discovery)
Source: Recent Patents on Inflammation and Allergy Drug Discovery - February 6, 2020 Category: Allergy & Immunology Tags: Recent Pat Inflamm Allergy Drug Discov Source Type: research

Ultrasound evaluation of schistosomiasis-related morbidity among the Xakriabá people in the state of Minas Gerais, Brazil
Abstract Objective: To use ultrasound to investigate the morbidity related to schistosomiasis in the Xakriab á indigenous population. Materials and Methods: This was a field-based census study conducted in the territory of the Xakriabá people. A total of 166 individuals were invited, and 148 ( ≤ 77 years of age) agreed to participate. Most participants underwent abdominal ultrasound, physical examination, and stool examination. Mann-Whitney U and chi-square tests were used for comparisons. We determined risk by calculating odds ratio (OR) and performed logistic regression analysis. Results: Schistosoma man...
Source: Radiologia Brasileira - February 3, 2020 Category: Radiology Source Type: research

[Evaluation of  the Follow-Up and State of Adolescents with Sickle-Cell Disease in Brazzaville (Congo)].
The objective of this study was to describe the state of health and to assess the quality of follow-up and to identify the determinants of poor monitoring of adolescent sickle-cell followed in Brazzaville for an average of 12 ± 9.6 years, starting from a cross-sectional study carried out at the Brazzaville University Hospital from March to September 2016. It is based on a questionnaire composed of elements of assessment of the state of health and the quality of the follow-up. The vaccination coverage of adolescents was low, 81.3% for DTCP, 66.5% for Typhim Vi, 50.2% for viral hepatitis B, 76.4% for pneumoco...
Source: Bulletin de la Societe de Pathologie Exotique - February 1, 2020 Category: Tropical Medicine Tags: Bull Soc Pathol Exot Source Type: research

Postpartum histoplasmosis in an HIV-negative woman: a case report and phylogenetic characterization by internal transcribed spacer region analysis
Abstract The present report describes the first case of postpartum disseminated histoplasmosis in a 24-year-old HIV-negative woman. On the tenth day after vaginal delivery, the patient presented with dyspnea, fever, hypotension, tachycardia, and painful hepatomegaly. Yeast-like Histoplasma capsulatum features were isolated in the buffy coat. The phylogenetic analysis demonstrated that the fungal isolate was similar to other H. capsulatum isolates identified in HIV patients from Cear á and Latin America. Thus, histoplasmosis development in individuals with transitory immunosuppression or during the period of immunolo...
Source: Revista da Sociedade Brasileira de Medicina Tropical - January 28, 2020 Category: Tropical Medicine Source Type: research

Lipoatrophy ‐Associated Insulin Resistance and Hepatic Steatosis are Attenuated by Intake of Diet Rich in Omega 3 Fatty Acids
ConclusionDiet enrichment with n ‐3 fatty acids improves glucose homeostasis and reduces liver steatosis and inflammation without affecting hepatomegaly in severe lipoatrophic mice.This article is protected by copyright. All rights reserved (Source: Molecular Nutrition and Food Research)
Source: Molecular Nutrition and Food Research - January 24, 2020 Category: Food Science Authors: Rafael J. Moreira, Érique Castro, Tiago E. Oliveira, Thiago Belchior, Albert S. Peixoto, Adriano B. Chaves‐Filho, Mayara F. Moreno, Janayna D. Lima, Marcos Yoshinaga, Sayuri Miyamoto, Mychel R.P.T. Morais, Telma M.T. Zorn, Bruno Cogliati, L Tags: Research Article Source Type: research

Pathological roles of MRP14 in anemia and splenomegaly during experimental visceral leishmaniasis
In this study, to examine the pathological involvement of MRP14 during cutaneous and visceral leishmaniasis, wild-type (WT) and MRP14 knockout (MRP14KO) mice were infected withLeishmania major andL.donovani. Increase in the number of MRP14+ cells at the infection sites in wild-type mice was commonly found in the skin duringL.major infection as well as the spleen and liver duringL.donovani infection. In contrast, the influence of MRP14 to the pathology seemed different between the two infections. MRP14 depletion exacerbated the lesion development and ulcer formation inL.major infection. On the other hand, the depletion impr...
Source: PLoS Neglected Tropical Diseases - January 21, 2020 Category: Tropical Medicine Authors: Kanna Ishizuka Source Type: research

Liver involvement in patients with Gaucher disease types I and III
ConclusionsGD is a heterogeneous disease that causes different patterns of liver damage even during treatment. Although treatment improves the hepatocellular damage, it is associated with an increased rate of steatosis. This study highlights the importance of a follow-up of liver integrity in these patients. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 8, 2020 Category: Genetics & Stem Cells Source Type: research

Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen ‐de Vries syndrome
ConclusionThis is the first published case of Jansen ‐de Vries syndrome in Chinese population, which will help us to enrich the clinical spectrum of this syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 8, 2020 Category: Genetics & Stem Cells Authors: Zhuoguang Li, Caiqi Du, Cai Zhang, Mini Zhang, Yanqin Ying, Yan Liang, Xiaoping Luo Tags: CLINICAL REPORT Source Type: research

Intra-hospital prognosis of pericardial diseases in tropical area: Single-Center Study in Central Africa
Publication date: January 2020Source: Archives of Cardiovascular Diseases Supplements, Volume 12, Issue 1Author(s): B. Ellenga Mbolla, C.Y. Datsé, R. Atipo Galloye, S.F. Mongo Ngamami, I. Ondze Kafata, S.G. Kimbally KakyBackgroundPericardial diseases (PD) are varied in tropical area, and the major causes are infections.PurposeTo determine the frequency and the main diseases of pericardium.MethodsThis cross-sectional study was conducted from January 2008 to December 2017 in the department of cardiology at University Hospital of Brazzaville. We had included, the patients admitted for PD.ResultsA total of 113 patients,...
Source: Archives of Cardiovascular Diseases Supplements - January 7, 2020 Category: Cardiology Source Type: research

Addition of trans-fat and alcohol has divergent effects on atherogenic diet-induced liver injury in rodent models of steatohepatitis.
Conclusion The addition of trans-fat reduced the HFC-induced inflammation but augmented steatosis and dyslipidemia. Inclusion of alcohol induced a more inflammatory and fibrogenic phenotype. PMID: 31905026 [PubMed - as supplied by publisher] (Source: American Journal of Physiology. Gastrointestinal and Liver Physiology)
Source: American Journal of Physiology. Gastrointestinal and Liver Physiology - January 6, 2020 Category: Physiology Authors: Daniels SJ, Leeming DJ, Detlefsen S, Bruun MF, Hjuler ST, Henriksen K, Hein P, Krag A, Karsdal MA, Nielsen MJ, Brockbank S, Cruwys S Tags: Am J Physiol Gastrointest Liver Physiol Source Type: research

Induction of AP-1 by YAP/TAZ contributes to cell proliferation and organ growth [Research Papers]
Yes-associated protein (YAP) and its homolog transcriptional coactivator with PDZ-binding motif (TAZ) are key effectors of the Hippo pathway to control cell growth and organ size, of which dysregulation yields to tumorigenesis or hypertrophy. Upon activation, YAP/TAZ translocate into the nucleus and bind to TEAD transcription factors to promote transcriptional programs for proliferation or cell specification. Immediate early genes, represented by AP-1 complex, are rapidly induced and control later-phase transcriptional program to play key roles in tumorigenesis and organ maintenance. Here, we report that YAP/TAZ directly p...
Source: Genes and Development - January 2, 2020 Category: Genetics & Stem Cells Authors: Koo, J. H., Plouffe, S. W., Meng, Z., Lee, D.-H., Yang, D., Lim, D.-S., Wang, C.-Y., Guan, K.-L. Tags: Research Papers Source Type: research

Hepatic Infiltration with Malignant T-cells Manifesting as Impending Acute Liver failure in Mycosis Fungoides with Large Cell Transformation
Here we described a patient with a history of mycosis fungoides who developed large cell transformation manifesting with generalized erythroderma, lymphocytosis, lymphadenopathy and impending acute liver failure (ALF). Three-phase computed tomography of the liver showed neither mass nor hepatomegaly. Liver biopsy confirmed infiltration with malignant CD4+ clonal T-cells. Combination chemotherapy with gemcitabine, dexamethasone, and cisplatin (GDP) resulted in the recovery of liver function and resolution of skin involvement. In Foundation Medicine Hematology Gene Panel, 31 genetic alterations with 11 clinically relevant mu...
Source: Mediterranean Journal of Hematology and Infectious Diseases - December 31, 2019 Category: Hematology Source Type: research

Prior Gemtuzumab Ozogamicin Exposure in Adults With Acute Myeloid Leukemia Does Not Increase Hepatic Veno-occlusive Disease Risk After Allogeneic Hematopoietic Cell Transplantation: A CIBMTR Analysis
Hepatic veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS) is a potentially life-threatening complication that occurs primarily after hematopoietic cell transplantation (HCT) [1]. VOD/SOS is characterized by fluid retention, painful hepatomegaly, weight gain, and hyperbilirubinemia and results from injury to the sinusoidal endothelial cells due, at least in part, to the conditioning regimen [1,2]. The rate of VOD/SOS following HCT in historical cohorts ranges from 0 to 62.3%, with a mean of 13.7%, and is higher with allogeneic HCT (alloHCT) compared with autologous HCT [3]. (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - December 28, 2019 Category: Hematology Authors: Vincent T. Ho, Andrew St. Martin, Waleska S. P érez, Patricia Steinert, Mei-Jie Zhang, Deborah Chirnomas, Caroline J. Hoang, Fausto R. Loberiza, Wael Saber Source Type: research

Morbidity associated with Schistosoma mekongi and concurrent helminth infection in Lao People's Democratic Republic.
Abstract In 2006, some 7 years after the halt of a multi-year schistosomiasis control programme, a study was conducted in the southern part of Lao People's Democratic Republic to determine the morbidity associated with Schistosoma mekongi and concurrent helminth infection. In two S. mekongi-endemic districts, Khong and Mounlapamok, 640 individuals aged 9-40 years were randomly selected. Two stool samples were obtained from each participant and subjected to the Kato-Katz technique for helminth diagnosis. Morbidity was assessed by clinical examination and abdominal ultrasonography. Multiple logistic regression ...
Source: Acta Tropica - December 28, 2019 Category: Infectious Diseases Authors: Sayasone S, Kling K, Southisavath P, Utzinger J, Oroth R, Odermatt P Tags: Acta Trop Source Type: research

Polyneuropathy, organomegaly, endocrinopathy, monoclonal band, and skin (POEMS) changes syndrome presenting with a pseudosensory level: a case report
ConclusionsPolyneuropathy in polyneuropathy, organomegaly, endocrinopathy, monoclonal band, and skin changes syndrome can present as a pseudosensory level. (Source: Journal of Medical Case Reports)
Source: Journal of Medical Case Reports - December 27, 2019 Category: General Medicine Source Type: research

ATM-Mutated Pancreatic Cancer: Clinical and Molecular Response to Gemcitabine/Nab-Paclitaxel After Genome-Based Therapy Resistance
We present the case of a 44-year-old woman with ATM-mutated PC who achieved stable disease as the best response to first-line fluorouracil, leucovorin, irinotecan, and oxaliplatin, followed by progression on a PARP inhibitor. In the setting of jaundice, painful hepatomegaly, and a declining performance status, she experienced rapid disease regression with the nonplatinum regimen, gemcitabine plus nab-paclitaxel. Both physical stigmata and abnormal laboratory values resolved, imaging studies showed a reduction in metastases and her performance status returned to normal. Measurement of circulating tumor DNA for KRAS G12R by ...
Source: Pancreas - December 20, 2019 Category: Gastroenterology Tags: Case Report Source Type: research

Massive splenomegaly in scrub typhus: a rare presentation
We present a diagnostic conundrum of a 22 year old male presenting with fever, hepatomegaly, massive splenomegaly and lymphadenopathy. Tests for malarial parasite, visceral leishmaniasis, enteric fever were negative. Bone marrow aspiration showed normal hemopoeisis. IgM Scrub tested positive. High grade of clinical suspicion and awareness is required among treating physicians for early diagnosis of scrub since delay in treatment initiation may lead to a dismal clinical outcome. (Source: IDCases)
Source: IDCases - December 19, 2019 Category: Infectious Diseases Source Type: research

[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome].
Abstract Within 4 years (2014-2017), we genetically diagnosed 2 newborns with Kagami-Ogata syndrome (OMIM #608149). As fetuses they exhibited prenatal polyhydramnios and in 1 case hepatomegaly. After birth, the newborns suffered from respiratory distress. Typical phenotypic features, such as muscular hypotonia, a protruding philtrum, full cheeks and a depressed nasal bridge, were present. Chest X-rays revealed coat-hanger ribs and a bell-shaped thorax, suggestive of the entity. Kagami-Ogata syndrome is caused by an aberrant gene expression of chromosome 14 and was first described in 1991. Possible causes are pater...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - December 18, 2019 Category: Perinatology & Neonatology Authors: Westeppe S, Dionysopoulou A, Kidszun A, Schmeh I, Bartsch O, Mildenberger E, Winter J Tags: Z Geburtshilfe Neonatol Source Type: research

Clinico-Bacteriological Profile of Typhoid Fever in a Private Sector Hospital in New Delhi.
CONCLUSIONS: We observed a high isolation rate of salmonella in blood culture, despite prior use of antibiotics. Most salmonella isolates were susceptible in vitro to standard drugs, except nalidixic acid. PMID: 31884434 [PubMed - in process] (Source: Indian Pediatrics)
Source: Indian Pediatrics - December 15, 2019 Category: Pediatrics Authors: Chitkara AJ, Chitkara S, Narang PS, Sundharam M, Goyal M Tags: Indian Pediatr Source Type: research

Schisandrin B and Schisandrol B induce mouse CYP2b10 associated with CAR not PXR
Publication date: February 2020Source: Phytochemistry Letters, Volume 35Author(s): Minzhu Xie, Jiao Lin, Jinyu Kang, Xiuting Zheng, Kailu Fang, Yishuang Luo, Aiming Liu, Julin YangAbstractSchisandrin B (SinB) and Schisandrol B (SolB) are two abundant compounds with similar structures in Schisandra sphenanthera widely used for hepatic diseases in Asian countries. They are also pharmacologically active components in many other traditional Chinese medicines. However, induction features of cytochrome P450 (CYP) by SinB and SolB were not well established. The present study aimed to investigate the CYP profile induced by SinB an...
Source: Phytochemistry Letters - December 11, 2019 Category: Chemistry Source Type: research

Diagnosis, grading, and treatment recommendations for children, adolescents, and young adults with sinusoidal obstructive syndrome: an international expert position statement
Publication date: Available online 7 December 2019Source: The Lancet HaematologyAuthor(s): Kris M Mahadeo, Rajinder Bajwa, Hisham Abdel-Azim, Leslie E Lehmann, Christine Duncan, Nicole Zantek, Jennifer Vittorio, Joseph Angelo, Jennifer McArthur, Keri Schadler, Sherwin Chan, Priti Tewari, Sajad Khazal, Jeffery J Auletta, Sung Won Choi, Basirat Shoberu, Krzysztof Kalwak, Avis Harden, Partow Kebriaei, Jun-ichi AbeSummarySinusoidal obstructive syndrome, also known as hepatic veno-occlusive disease, is a potentially life-threatening complication that occurs in children undergoing haemopoietic stem-cell transplantation (HSCT). D...
Source: The Lancet Haematology - December 8, 2019 Category: Hematology Source Type: research

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.
We present the clinical characteristics of a eighth such patient. This 4 year-old boy with narrow thorax, short limbs, severe respiratory and feeding difficulties from birth on had a history of hypotonia and developmental delay. On skeletal survey, short tubular bones (height - 5,5 SD) and a trident appearance of the pelvis were seen. Brain MRI showed cervical canal stenosis. Renal function was normal and moderate hepatomegaly was noted. A homozygous c.943C > T mutation in KIAA0753 was identified on whole exome sequencing, resulting in Gln315Ter premature termination of the corresponding protein. This case provides ...
Source: European Journal of Medical Genetics - December 6, 2019 Category: Genetics & Stem Cells Authors: Faudi E, Brischoux-Boucher E, Huber C, Dabudyk T, Lenoir M, Baujat G, Michot C, Van Maldergem L, Cormier-Daire V, Piard J Tags: Eur J Med Genet Source Type: research

Infant Death Following Home Birth: A Case Report of Fatal Neonatal Hypoglycemia.
Abstract Infants born to diabetic mothers are at increased risk for symptomatic hypoglycemia and death after birth. A 36-year-old G4P3 mother with a history of gestational diabetes and newly diagnosed type II insulin-dependent diabetes gave birth at home, in the care of a midwife, to a macrosomic infant girl (10 lbs.). Several hours after birth, the infant became lethargic and was found to be hypoglycemic (blood sugar: 28 mg/dL). Glucose and sugar water were administered by the midwife; however, the infant continued to decompensate. Emergency medical services were called, and the infant was transported to the...
Source: Journal of Forensic Sciences - December 4, 2019 Category: Forensic Medicine Authors: Schuppener LM, Corliss RF Tags: J Forensic Sci Source Type: research

Increased proliferation of hepatic periportal ductal progenitor cells contributes to persistent hypermetabolism after trauma.
Abstract Prolonged and persistent hypermetabolism and excessive inflammatory response after severe trauma is detrimental and associated with poor outcome. The predisposing pathology or signals mediating this complex response are essentially unknown. As the liver is the central organ mediating the systemic metabolic responses and considering that adult hepatic stem cells are on top of the hierarchy of cell differentiation and may pass epigenetic information to their progeny, we asked whether liver progenitor cells are activated, signal hypermetabolism upon post-traumatic cellular stress responses, and pass this to ...
Source: J Cell Mol Med - December 3, 2019 Category: Molecular Biology Authors: Diao L, Yousuf Y, Amini-Nik S, Jeschke MG Tags: J Cell Mol Med Source Type: research

Combined adenocarcinoma with yolk sac tumor of the rectum metastasizing as a germ cell neoplasm: Case report
We reported a case of 18 years-old female patient admitted to Mansoura oncology center with severe abdominal pain. Physical examination revealed a distended abdomen with hepatomegaly with no abdominal mass. Computed tomographic (CT) scan of the abdomen revealed markedly enlarged liver with multiple innumerable variable sized hyper-echoic non-enhanced focal lesions. The patient underwent an ultrasound- guided biopsy of the liver that showed metastatic yolk sac tumor. Colonoscopy confirmed a large polypoidal ulcerating mass that was 15 cm from anal verge. Biopsy from the mass revealed conventional colonic adenocarcinoma merg...
Source: Current Medicine Research and Practice - December 2, 2019 Category: General Medicine Source Type: research

Exaggerated startle and dark thalami: Important clues at the bedside
A 2-year-old-boy presented with delayed development since early infancy, followed by recurrent seizures and abnormal startle response to loud sounds noted in the second year of life. He was born to non-consanguineous parents and had an uneventful perinatal period. On examination, he had macrocephaly (head circumference 51 cm, at +2.69 z), coarse facies, abnormal, exaggerated, repetitive startle response without habituation (Video 1), central hypotonia, brisk muscle stretch reflexes, hepatomegaly and bilateral macular cherry-red spot. (Source: Pediatric Neurology)
Source: Pediatric Neurology - November 29, 2019 Category: Neurology Authors: Bhanudeep Singanamalla, Arushi Gahlot Saini, Naveen Sankhyan Tags: Visual Diagnosis Source Type: research

Exaggerated Startle and Cherry-Red Spots: Important Bedside Clues
This two-year-old-boy presented with delayed development since early infancy, followed by recurrent seizures and an abnormal startle response to loud sounds starting in the second year of life. He was born to nonconsanguineous parents and had an uneventful perinatal course. On examination, he had macrocephaly (head circumference 51  cm, at +2.69 z); coarse facies; abnormal, exaggerated, repetitive startle response without habituation (Video); central hypotonia; brisk muscle stretch reflexes; hepatomegaly; and bilateral macular cherry-red spots. (Source: Pediatric Neurology)
Source: Pediatric Neurology - November 29, 2019 Category: Neurology Authors: Bhanudeep Singanamalla, Arushi Gahlot Saini, Naveen Sankhyan Tags: Visual Diagnosis Source Type: research

Retrospective quantitative assessment of liver size by measurement of radiographic liver area in small-breed dogs.
CONCLUSIONS AND CLINICAL RELEVANCE: Findings indicated that RLA measurement in small-breed dogs with or without liver disease was useful and accurate for estimation of liver size, compared with CT measurement, and might be particularly useful for monitoring of changes in liver size. PMID: 31763938 [PubMed - in process] (Source: American Journal of Veterinary Research)
Source: American Journal of Veterinary Research - November 27, 2019 Category: Veterinary Research Authors: Lee S, Yoon H, Eom K Tags: Am J Vet Res Source Type: research

Pacemaker lead as an iatrogenic cause of right heart failure: Case report
We present the case of a 74-year-old woman with a history of hypertensive heart disease with preserved systolic function, atrial fibrillation and dyslipidemia. She had a DDDR pacemaker implanted in 2005 due to symptomatic complete atrioventricular block.The patient reported progressive fatigue, weakness, ascites with abdominal discomfort, and lower limb edema, accompanied by non-specific hepatic cholestasis on biochemical testing. Abdominal ultrasound revealed homogeneous hepatomegaly and dilatation of the inferior vena cava and upper hepatic veins, suggestive of congestive hepatopathy.Echocardiography revealed tricuspid r...
Source: Revista Portuguesa de Cardiologia - November 26, 2019 Category: Cardiology Source Type: research

Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.
In conclusion, these findings indicate that CGL4 patients should also be carefully followed up for gastrointestinal and cardiac manifestations. PMID: 31778856 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - November 25, 2019 Category: Genetics & Stem Cells Authors: Nilay Güneş, Kutlu T, Tekant GT, Eroğlu AG, Üstündağ NÇ, Öztürk B, Onay H, Tüysüz B Tags: Eur J Med Genet Source Type: research

Leukemic phase of ALK-negative anaplastic large cell lymphoma in a patient who is on androgenic steroids: A case report
Conclusion: Leukemic phase ALK-negative ALCL often carries a complex karyotype and requires early intensive polychemotherapy. Use of anabolic steroids depletes the ability of defending lymphocytes to remove tumour producing cells. (Source: Annals of Medicine and Surgery)
Source: Annals of Medicine and Surgery - November 22, 2019 Category: General Medicine Source Type: research

Refractory Thrombocytopenia is a Valid Early Diagnostic Criteria for Hepatic Veno-Occlusive Disease in Children
Hepatic veno-occlusive disease (VOD) is a potentially fatal complication of hematopoietic stem cell transplantation (HSCT) seen in approximately 7 –27% of the children [1]. As specific pediatric criteria have been lacking so far, the modified Seattle criteria or the Baltimore criteria have been used for the diagnosis of VOD in children, too [2,3]. According to the Baltimore criteria, VOD can be diagnosed if a patient has hyperbilirubinemia o f>2 mg/dl and any two of the following: weight gain of>5% from baseline, hepatomegaly, or ascites. (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - November 19, 2019 Category: Hematology Authors: Mostafa M. Embaby, Hemalatha G. Rangarajan, Rolla Abu-Arja, Jeffery J. Auletta, Joseph Stanek, Vinita Pai, Kathleen K. Nicol, Rajinder S. Bajwa Source Type: research

Phage Therapy as an Approach to Control Salmonella enterica serotype Enteritidis Infection in Mice
CONCLUSIONS The results of this study suggest that phage SE20 is a promising candidate for controlling salmonellosis caused by Salmonella Enteritidis. (Source: Revista da Sociedade Brasileira de Medicina Tropical)
Source: Revista da Sociedade Brasileira de Medicina Tropical - November 15, 2019 Category: Tropical Medicine Source Type: research

Changes in Morbidity, Physical Fitness, and Perceived Quality of Life among Schoolchildren following Four Years of Different Mass Drug Administration Strategies against Schistosoma mansoni Infection in Mwanza Region, Northwestern Tanzania.
This study aimed to compare morbidity markers between two cohorts of Tanzanian schoolchildren with initial high prevalence of S. mansoni infection. One cohort (N = 254 at baseline) received annual MDA for 4 years using community-wide treatment (CWT). The second cohort (N = 318 at baseline) received school-based treatment (SBT) every other year for 4 years. At year 5, the CWT cohort and the SBT cohort were reduced to 153 and 221 children, respectively. The characteristics of the 198 children lost to follow-up did not differ at baseline from those who were examined in year 5. Schistosoma mansoni infection, hemoglobin (Hb) an...
Source: The American Journal of Tropical Medicine and Hygiene - November 11, 2019 Category: Tropical Medicine Authors: Olsen A, Kinung'hi S, Kaatano G, Magnussen P Tags: Am J Trop Med Hyg Source Type: research

Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities
Publication date: Available online 6 November 2019Source: Molecular Genetics and MetabolismAuthor(s): Susana Peralta, Adrián González-Quintana, Marta Ybarra, Aitor Delmiro, Rafael Pérez-Pérez, Jorge Docampo, Joaquín Arenas, Alberto Blázquez, Cristina Ugalde, Miguel A. MartínAbstractLethal neonatal encephalopathies are heterogeneous congenital disorders that can be caused by mitochondrial dysfunction. Biallelic large deletions in the contiguous ATAD3B and ATAD3A genes, encoding mitochondrial inner membrane ATPases of unknown function, as well as compound heterozygous nonsense...
Source: Molecular Genetics and Metabolism - November 7, 2019 Category: Genetics & Stem Cells Source Type: research

A new therapy in Epstein-Barr virus-associated lymphoproliferative disease: a case report and a revision of the literature
We report a case of chronic active Epstein-Barr virus infection in a 5-year-old Chinese boy with intestinal, vascular, and neurological involvement. At age of 2  years and 7 months old, he had hepatomegaly and been diagnosed with Epstein-Barr virus infection. After treatment, he showed some clinical improvement. At age of 3 years and 3 months old, he presented with recurrent fever and diarrhea. Then he received methylprednisolone for 1 year and his symptoms ameliorated. At the age of 5 years, his symptoms recurred and had gastrointestinal hemorrhage and developed polyuria, frequent c...
Source: Italian Journal of Pediatrics - November 4, 2019 Category: Pediatrics Source Type: research

Treatment of multicentric Castleman disease through combination of tocilizumab, lenalidomide and glucocorticoids: Case report
We reported a case with multicentric Castleman's disease (MCD) which acquired quite good remission after combination treatment with tocilizumab, lenalidomide, and glucocorticoids. Our report provided powerful evidence for displaying the efficiency and safety of target therapy against unicentric Castleman disease. (Source: Medicine)
Source: Medicine - November 1, 2019 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

M275 evaluation and treatment of pediatric atypical hemolytic uremic syndrome
A six-year-old male presented with one day of jaundice, hematuria. and vomiting. Patient denied fever, diarrhea, travel, new medications or foods. Physical exam demonstrated elevated blood pressure, petechiae, and hepatomegaly. He had no significant past medical history or pertinent family history. (Source: Annals of Allergy, Asthma and Immunology)
Source: Annals of Allergy, Asthma and Immunology - November 1, 2019 Category: Allergy & Immunology Authors: D. Urschel Source Type: research

Incidence, predictors, and outcomes of veno-occlusive disease/sinusoidal obstruction syndrome after reduced intensity allogeneic hematopoietic cell transplantation
Veno-occlusive disease (VOD) of the liver, also known as sinusoidal obstructive syndrome (SOS), is a serious complication of hematopoietic stem cell transplantation that is marked by fluid retention, painful hepatomegaly, and hyperbilirubinemia [1]. In severe cases, this can progress to multi-organ failure (MOF) and death [2]. This disorder in HCT setting is believed to be caused, in large part, by cytotoxic conditioning therapy-induced sinusoid endothelial cell damage leading to downstream hepatocyte injury [3]. (Source: Biology of Blood and Marrow Transplantation)
Source: Biology of Blood and Marrow Transplantation - October 31, 2019 Category: Hematology Authors: Clinton Lewis, Haesook T Kim, Lindsey E. Roeker, Corey Cutler, John Koreth, Sarah Nikiforow, Philippe Armand, Mahasweta Gootpu, Rizwan Romee, Brett Glotzbecker, Prashant Nageshwar, Joseph H. Antin, Edwin P. Alyea, Paul Richardson, Robert J. Soiffer, Vince Source Type: research

Prevalence of hepatitis b, hepatitis c and hiv in multiply transfused sickle cell disease patients from oman
Conclusion: This study provides the first comprehensive data on the prevalence of HBV and HCV infections among Omani SCD patients exposed to blood transfusions. Reassuringly, no case with HIV was observed. Keywords: Prevalence; Hepatitis; HBV; HCV; HIV; infection  (Source: Mediterranean Journal of Hematology and Infectious Diseases)
Source: Mediterranean Journal of Hematology and Infectious Diseases - October 30, 2019 Category: Hematology Source Type: research