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https://www.readbyqxmd.com/read/28502515/lysosomal-acid-lipase-deficiency-in-all-siblings-of-the-same-parents
#1
James J Maciejko, Premchand Anne, Saleem Raza, Hernando J Lyons
We present 4 normal-weight sibling children with lysosomal acid lipase deficiency (LAL-D). LAL-D was considered in the differential diagnosis based on the absence of secondary causes and primary inherited traits for their marked hyperlipidemia, together with unexplained hepatic transaminase elevation. Residual lysosomal acid lipase activity confirmed the diagnosis. DNA sequencing of LIPA indicated that the siblings were compound heterozygotes (c.894G>A and c.428+1G>A). This case describes the unusual occurrence of all offspring from the same nonconsanguineous mother and father inheriting compound heterozygosity of a recessive trait and the identification of an apparently unique LIPA mutation (c...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28476236/genetics-of-lipodystrophy
#2
REVIEW
Marissa Lightbourne, Rebecca J Brown
Lipodystrophy disorders are characterized by selective loss of fat tissue with metabolic complications including insulin resistance, hypertriglyceridemia, and nonalcoholic liver disease. These complications can be life-threatening, affect quality of life, and result in increased health care costs. Genetic discoveries have been particularly helpful in understanding the pathophysiology of these diseases, and have shown that mutations affect pathways involved in adipocyte differentiation and survival, lipid droplet formation, and lipid synthesis...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28470179/autoimmune-channelopathies-as-a-novel-mechanism-in-cardiac-arrhythmias
#3
REVIEW
Pietro Enea Lazzerini, Pier Leopoldo Capecchi, Franco Laghi-Pasini, Mohamed Boutjdir
Cardiac arrhythmias confer a considerable burden of morbidity and mortality in industrialized countries. Although coronary artery disease and heart failure are the prevalent causes of cardiac arrest, in 5-15% of patients, structural abnormalities at autopsy are absent. In a proportion of these patients, mutations in genes encoding cardiac ion channels are documented (inherited channelopathies), but, to date, the molecular autopsy is negative in nearly 70% of patients. Emerging evidence indicates that autoimmunity is involved in the pathogenesis of cardiac arrhythmias...
May 4, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28447886/drug-induced-hyperlactatemia
#4
Eike Blohm, Jeffrey Lai, Mark Neavyn
BACKGROUND: Hyperlactatemia is common in critically ill patients and has a variety of etiologies. Medication toxicity remains an uncommon cause that providers often fail to recognize. In this article, we review several medications that cause hyperlactatemia in either therapeutic or supratherapeutic dosing. When known, the incidence, mortality, pathophysiology, and treatment options are discussed. METHODS: We performed a literature search using PUBMED and Google Scholar for English language articles published after 1980 regarding medication induced hyperlactatemia and its management...
April 27, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28444167/electrical-cardiac-injuries-current-concepts-and-management
#5
Victor Waldmann, Kumar Narayanan, Nicolas Combes, Daniel Jost, Xavier Jouven, Eloi Marijon
Electrical injuries are a commonly encountered hazard in both the home and workplace. However, clinicians are often uncomfortable when faced with the patient who presents with an electric shock due to sparse literature and lack of systematic recommendations on this topic. Electrical injuries can range from minor skin burns to life threatening internal organ damage. A thorough clinical assessment to ascertain the path of current through the body and possible internal injury is essential. The main concern in an apparently stable individual after an electric shock is the potential for delayed occurrence of cardiac arrhythmias which will require monitoring in the intensive care setting...
April 20, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28438477/apnea-in-the-term-infant
#6
REVIEW
Mary Elaine Patrinos, Richard J Martin
Whereas apnea of prematurity has been well defined and its pathophysiology extensively studied, apnea in the term infant remains a greater challenge. Unfortunately, clear diagnostic criteria are lacking and pathogenesis and management vary widely. In this review we have arbitrarily organized the discussion chronologically into earlier and later postnatal periods. In the first days of life, presumed apnea may reflect physiologic events such as positional or feeding etiologies, or may be a manifestation of serious pathophysiology, such as a seizure disorder...
April 21, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28427001/emergency-room-thoracotomy-for-acute-traumatic-cardiac-tamponade-caused-by-a-blunt-cardiac-injury-a-case-report
#7
Kenichiro Ishida, Yoshihiro Kinoshita, Nobutaka Iwasa, Masaro Nakae, Masayuki Sakaki, Yohei Ieki, Kyosuke Takahashi, Yumiko Shimahara, Taku Sogabe, Keiichiro Shimono, Mitsuhiro Noborio, Daikai Sadamitsu
INTRODUCTION: Traumatic blunt cardiac injuries have a high mortality rate, and prompt diagnosis and treatment can be lifesaving in cardiac tamponade. PRESENTATION OF CASE: A 62-year-old man was transferred to the emergency department after a motor vehicle accident. He was hemodynamically unstable. A focused assessment with sonography in trauma (FAST) showed pericardial fluid with right ventricular collapse consistent with cardiac tamponade in the subxiphoid view...
April 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28421408/pharmacological-and-non-pharmacological-treatment-for-decompensated-heart-failure-what-is-new
#8
REVIEW
Parin Shah, Pierpaolo Pellicori, Joseph Cuthbert, Andrew L Clark
PURPOSE OF THE REVIEW: Acute heart failure (AHF) is a life-threatening clinical condition that requires prompt medical attention. The aim of the current review is to summarise the results of recent clinical trials conducted in patients with AHF. RECENT FINDINGS: Several novel compounds have apparently beneficial acute effects on cardiovascular haemodynamics and patients' symptoms, but their administration has not yet translated into improved survival and has been deleterious in some cases...
April 18, 2017: Current Heart Failure Reports
https://www.readbyqxmd.com/read/28419986/hypodysfibrinogenemia-with-a-heterozygous-mutation-of-%C3%AE-cys326ser-by-the-novel-transversion-of-tgt-to-tct-in-a-patient-with-pulmonary-thromboembolism-and-right-ventricular-thrombus
#9
Akiko Ushijima, Taichi Komai, Atsuko Masukawa, Keiko Oikawa, Norishige Morita, Satomi Asai, Saki Mukai, Nobuo Okumura, Yoshinori Kobayashi, Hayato Miyachi
We encountered a 45-year-old Japanese man who suffered from pulmonary thromboembolism and huge right ventricular thrombus after inferior vena cava (IVC) filter implantation without apparent thrombus in either the deep veins or inside the IVC filter. The biochemical data showed a discrepancy in the level of fibrinogen between the immunological and thrombin time methods, suggesting hypodysfibrinogenemia. The sequencing of the fibrinogen γ-chain gene (FGG) revealed a novel heterozygous missense mutation in exon 8 - a TGT to TCT transversion in codon 326 - resulting in an amino acid substitution of serine for cysteine (γCys326Ser)...
April 19, 2017: Cardiology
https://www.readbyqxmd.com/read/28406584/thick-corpus-callosum-in-children
#10
Aviv Schupper, Osnat Konen, Ayelet Halevy, Rony Cohen, Sharon Aharoni, Avinoam Shuper
BACKGROUND AND PURPOSE: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different. METHODS: The corpus callosum (CC) was defined as thick based on observations and impressions. We reviewed cases of children who were diagnosed as TCC based on brain magnetic resonance imaging (MRI) studies. The pertinent clinical data of these children were collected, and their CCs were measured...
April 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28389847/a-pilot-study-of-salivary-n-glycome-in-hbv-induced-chronic-hepatitis-cirrhosis-and-hepatocellular-carcinoma
#11
Yannan Qin, Yaogang Zhong, Tianran Ma, Jiaxu Zhang, Ganglong Yang, Feng Guan, Zheng Li, Baozhen Li
Hepatitis B is a potentially life-threatening liver infection caused by the hepatitis B virus (HBV), which can lead to chronic liver disease and put people at high risk of death from cirrhosis of the liver and liver cancer. However, little is known about the correlation of salivary N-linked glycans related to HBV-infected liver diseases. Here we investigated N-linked glycome in saliva from 200 subjects (50 healthy volunteers (HV), 40 HBV-infected patients (HB), 50 cirrhosis patients (HC), and 60 hepatocellular carcinoma patients (HCC) using MALDI-TOF/TOF-MS...
April 8, 2017: Glycoconjugate Journal
https://www.readbyqxmd.com/read/28385426/posterior-tracheopexy-for-severe-tracheomalacia
#12
Hester F Shieh, C Jason Smithers, Thomas E Hamilton, David Zurakowski, Lawrence M Rhein, Michael A Manfredi, Christopher W Baird, Russell W Jennings
PURPOSE: In severe tracheomalacia, aortopexy addresses anterior vascular compression, but does not directly address posterior membranous tracheal intrusion. We review patient outcomes of posterior tracheopexy for tracheomalacia with posterior intrusion to determine if there were resolution of clinical symptoms and bronchoscopic evidence of improvement in airway collapse. METHODS: All patients who underwent posterior tracheopexy from October 2012 to March 2016 were retrospectively reviewed...
March 18, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28380402/the-role-of-thrombocytapheresis-in-the-contemporary-management-of-hyperthrombocytosis-in-myeloproliferative-neoplasms-a-case-based-review
#13
REVIEW
Prajwal Boddu, Lorenzo Falchi, Chitra Hosing, Kate Newberry, Prithviraj Bose, Srdan Verstovsek
Extreme thrombocytosis induces an acquired thrombotic-hemorrhagic diathesis, and left uncontrolled is a harbinger of potentially fatal vascular complications. Currently, cytoreduction with medical therapy remains the mainstay of hyperthrombocytosis management. However, it offers a less-than-ideal option in situations where a rapid reduction in platelets is urgently needed, as in the presence of vital end-organ ischemia or to ameliorate of life-threatening hemorrhage. The role of thrombocytapheresis, or plateletpheresis, in hyperthrombocytosis has become increasingly obsolete given the proactive titration of cytoreductive therapies and early identification and correction of reversible causes of reactive thrombocytosis...
March 22, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28372859/the-wedge-sign-an-imaging-sign-for-aggressive-lacrimal-gland-disease
#14
Daniele Lorenzano, Geoffrey E Rose
PURPOSE: Lacrimal gland carcinoma can form a triangle of tissue back to the orbital apex, intraconal spread apparently being prevented by the intermuscular septum. The "wedge sign" frequency is assessed in lacrimal carcinoma, lacrimal lymphoma, or dacryoadenitis. DESIGN: Retrospective masked review of images from patients with biopsy-proven lacrimal gland pathology. METHODS: For each patient, the presence of a triangle of tissue between the lateral rectus and lateral orbital wall and the superior rectus and the orbital roof was assessed by masked review of computed tomography or magnetic resonance imaging...
March 31, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28348774/latent-infection-of-human-bocavirus-accompanied-by-flare-of-chronic-cough-fatigue-and-episodes-of-viral-replication-in-an-immunocompetent-adult-patient-cologne-germany
#15
Wolfram Windisch, Monika Pieper, Inga Ziemele, Jürgen Rockstroh, Michael Brockmann, Oliver Schildgen, Verena Schildgen
INTRODUCTION: The human bocavirus (HBoV) is a parvovirus and is associated with mild to life-threatening acute or persisting respiratory infections, frequently accompanied by further pathogens. So far, there is limited knowledge on the mechanisms of persistence, and no reports on chronic infections or latency have been published so far. CASE PRESENTATION: An immunocompetent male patient suffers from a chronic HBoV1 infection, i.e. viral DNA was detected in both serum and bronchoalveolar lavage (BAL) for >5 months without co-infections and with respiratory symptoms resolved spontaneously while receiving symptomatic treatment with montelukast and corticosteroids...
August 2016: JMM Case Reports
https://www.readbyqxmd.com/read/28320097/asiatic-acid-ameliorates-pulmonary-fibrosis-induced-by-bleomycin-blm-via-suppressing-pro-fibrotic-and-inflammatory-signaling-pathways
#16
Shu-Hong Dong, Yan-Wei Liu, Feng Wei, Hui-Zhen Tan, Zhi-Dong Han
Idiopathic pulmonary fibrosis is known as a life-threatening disease with high mortality and limited therapeutic strategies. In addition, the molecular mechanism by which pulmonary fibrosis developed is not fully understood. Asiatic acid (AA) is a triterpenoid, isolated from Centella asiatica, exhibiting efficient anti-inflammatory and anti-oxidative activities. In our study, we attempted to explore the effect of Asiatic acid on bleomycin (BLM)-induced pulmonary fibrosis in mice. The findings indicated that pre-treatment with Asiatic acid inhibited BLM-induced lung injury and fibrosis progression in mice...
May 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28302076/uropathogenic-escherichia-coli-pathogenicity-islands-and-other-expec-virulence-genes-may-contribute-to-the-genome-variability-of-enteroinvasive-e-coli
#17
Laís Cristina da Silva, Ana Carolina de Mello Santos, Rosa Maria Silva
BACKGROUND: Enteroinvasive Escherichia coli (EIEC) may be the causative agent of part of those million cases of diarrhea illness reported worldwide every year and attributable to Shigella. That is because both enteropathogens have many common characteristics that difficult their identification either by traditional microbiological methods or by molecular tools used in the clinical laboratory settings. While Shigella has been extensively studied, EIEC remains barely characterized at the molecular level...
March 16, 2017: BMC Microbiology
https://www.readbyqxmd.com/read/28299719/the-non-coding-transcriptome-of-prostate-cancer-implications-for-clinical-practice
#18
REVIEW
Irene V Bijnsdorp, Martin E van Royen, Gerald W Verhaegh, Elena S Martens-Uzunova
Prostate cancer (PCa) is the most common type of cancer and the second leading cause of cancer-related death in men. Despite extensive research, the molecular mechanisms underlying PCa initiation and progression remain unclear, and there is increasing need of better biomarkers that can distinguish indolent from aggressive and life-threatening disease. With the advent of advanced genomic technologies in the last decade, it became apparent that the human genome encodes tens of thousands non-protein-coding RNAs (ncRNAs) with yet to be discovered function...
March 15, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28298791/amyloidosis-and-anesthesia
#19
Zara Wani, Dev Kumar Harkawat, Meenaxi Sharma
AIM: The aim of this article is to provide a view of amyloidosis and discuss implications for the anesthetic management of patients with this condition. MATERIAL AND METHOD: Urine samples from patients with plasma cell dyscrasias were obtained from a urine bank that gathers urine samples from patients who gave research use consent for specimens that would otherwise be considered waste. RESULTS: Patients with amyloidosis may present to the anesthesiologist for procedures relating to diagnosis, surgery relating to the underlying condition (e...
January 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/28279077/translesion-dna-polymerases-in-eukaryotes-what-makes-them-tick
#20
Alexandra Vaisman, Roger Woodgate
Life as we know it, simply would not exist without DNA replication. All living organisms utilize a complex machinery to duplicate their genomes and the central role in this machinery belongs to replicative DNA polymerases, enzymes that are specifically designed to copy DNA. "Hassle-free" DNA duplication exists only in an ideal world, while in real life, it is constantly threatened by a myriad of diverse challenges. Among the most pressing obstacles that replicative polymerases often cannot overcome by themselves are lesions that distort the structure of DNA...
March 9, 2017: Critical Reviews in Biochemistry and Molecular Biology
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