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Diseases (Basel)

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https://www.readbyqxmd.com/read/29789451/zebrafish-models-of-rare-hereditary-pediatric-diseases
#1
REVIEW
Máté Varga, Dorottya Ralbovszki, Eszter Balogh, Renáta Hamar, Magdolna Keszthelyi, Kálmán Tory
Recent advances in sequencing technologies have made it significantly easier to find the genetic roots of rare hereditary pediatric diseases. These novel methods are not panaceas, however, and they often give ambiguous results, highlighting multiple possible causative mutations in affected patients. Furthermore, even when the mapping results are unambiguous, the affected gene might be of unknown function. In these cases, understanding how a particular genotype can result in a phenotype also needs carefully designed experimental work...
May 22, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29783736/revisiting-cd28-superagonist-tgn1412-as-potential-therapeutic-for-pediatric-b-cell-leukemia-a-review
#2
REVIEW
Katelyn E Brown
Pediatric acute lymphoblastic leukemia (ALL) represents the most common pediatric cancer diagnosis, with numbers rising gradually every year. This paper proposes a novel therapeutic agent for pediatric ALL on the basis of a failed clinical drug trial in 2006. TGN1412 was a promising therapeutic agent that yielded outstanding results in both in vitro studies and animal trials. It is a CD28 superagonist monoclonal antibody that activates T regulatory (TReg ) cells in the absence of costimulation of the T cell receptor (TCR) by an antigen-presenting cell...
May 19, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29783726/case-report-of-isoniazid-related-acute-liver-failure-requiring-liver-transplantation
#3
Andrew A Li, Pratima Dibba, George Cholankeril, Donghee Kim, Aijaz Ahmed
The prevalence of latent tuberculosis infection (LTBI) in the United States in 2011 and 2012 was estimated at 4.4⁻4.8%. As of 2015, 12.4 million people still possessed LTBI. Isoniazid, or isonicotinic acid hydrazine (INH), is the most commonly used medication among varying regimens that exist in the treatment of tuberculosis and LTBI. INH-related hepatotoxicity is a well-known adverse effect of its use, often causing asymptomatic elevations in serum aminotransferase levels. These elevations are typically transient and reversible, but can cause acute, clinically-significant liver injury in rare cases...
May 19, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29783682/heat-shock-gene-inactivation-and-protein-aggregation-with-links-to-chronic-diseases
#4
Ian James Martins
The heat shock response involved in protein misfolding is linked to the formation of toxic immunogenic proteins with heat shock proteins (HSP) as regulators of amyloid beta aggregation. The defective amyloid beta trafficking between different intracellular compartments is now relevant to HSPs and autoimmunity. Overnutrition, temperature dysregulation, and stress repress the heat shock gene Sirtuin 1 with the induction of HSP regulated amyloid beta aggregation involved in the autoimmune response. Defective circadian rhythm alterations are connected to inactivation of the peripheral sink amyloid beta clearance pathway and related to insulin resistance, protein aggregation, and autoimmune disease in non-alcoholic fatty liver disease (NAFLD) and various neurodegenerative diseases such as Alzheimer's disease...
May 18, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29772649/pulmonary-arterial-hypertension-pathophysiology-and-treatment
#5
REVIEW
Norris S H Lan, Benjamin D Massam, Sandeep S Kulkarni, Chim C Lang
Pulmonary arterial hypertension (PAH), the first category of pulmonary hypertension, is a chronic and progressive disorder characterised by angioproliferative vasculopathy in the pulmonary arterioles, leading to endothelial and smooth muscle proliferation and dysfunction, inflammation and thrombosis. These changes increase pulmonary vascular resistance and subsequent pulmonary arterial pressure, causing right ventricular failure which leads to eventual death if untreated. The management of PAH has advanced rapidly in recent years due to improved understanding of the condition's pathophysiology, specifically the nitric oxide, prostacyclin-thromboxane and endothelin-1 pathways...
May 16, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29762473/zika-virus-and-the-risk-for-renter-households
#6
Amanda Scarbrough, Heranga Rathnasekara, Melinda Holt, Jack Hill, Ram Kafle
Recent research on family income indicates that a lack of economic stability can affect healthy housing. Those with limited resources experience higher rates of inadequate and unstable housing many times forcing them to live in undesirable communities in which there can be several community-level health-related issues. One community-level health-related factor of concern has been the reemergence of Zika virus. Some research has indicated that a higher risk of catching Zika virus may exist in neighborhoods and areas with unhealthy housing...
May 15, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29738438/proctitis-caused-by-mycobacterium-avium-intracellulare-in-an-hiv-infected-patient
#7
Jose Armando Gonzales Zamora, Clara Milikowski
Infectious proctitis is usually associated with sexually transmitted diseases, especially in HIV-infected individuals. Limited information is found about the role of Mycobacterium avium-intracellulare as a causative agent for this condition. Here, we report the case of an HIV-infected patient with a CD4 count of 304 cells/uL and undetectable HIV viral load, who presented with constipation and painful defecation. Endoscopic evaluation was significant for shallow rectal ulcerations. Histopathology revealed poorly formed granulomas...
May 8, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29751499/survival-and-prognostic-factors-in-mixed-cryoglobulinemia-data-from-246-cases
#8
Cesare Mazzaro, Luigino Dal Maso, Endri Mauro, Valter Gattei, Michela Ghersetti, Pietro Bulian, Giulia Moratelli, Gabriele Grassi, Francesca Zorat, Gabriele Pozzato
INTRODUCTION: The clinical and therapeutic management of mixed cryoglobulinemia (MC) remains a subject of controversy. In addition, most studies have not recorded the long-term follow-up and the outcome of these cases. MATERIAL AND METHODS: We enrolled 246 patients affected by MC who were consecutively admitted to our Department from January 1993 to February 2013. Clinical and biological data had been recorded until June 2014. RESULTS: The median age (at diagnosis) was 60 years (range 26⁻83)...
May 3, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29751497/epigenetic-regulation-of-atp-binding-cassette-protein-a1-abca1-gene-expression-a-new-era-to-alleviate-atherosclerotic-cardiovascular-disease
#9
Mohamed Zaiou, Ahmed Bakillah
The most important function of high density lipoprotein (HDL) is its ability to remove cholesterol from cells and tissues involved in the early stages of atherosclerosis back to the liver for excretion. The ATP-binding cassette transporters ABCA1 and ABCG1 are responsible for the major part of cholesterol efflux to HDL in macrophage foam cells. Thus, promoting the process of reverse cholesterol transport (RCT) by upregulating mainly ABCA1 remains one of the potential targets for the development of new therapeutic agents against atherosclerosis...
May 3, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29723983/comparison-of-brain-natriuretic-peptide-levels-to-simultaneously-obtained-right-heart-hemodynamics-in-stable-outpatients-with-pulmonary-arterial-hypertension
#10
Scott A Helgeson, J Saadi Imam, John E Moss, David O Hodge, Charles D Burger
Pulmonary arterial hypertension (PAH) is a progressive disease that requires validated biomarkers of disease severity. While PAH is defined hemodynamically by right heart catheterization (RHC), brain natriuretic peptide (BNP) is recommended by guidelines to assess disease status. Retrospectively collected data in 138 group 1 PAH patients were examined for the correlation of BNP levels to simultaneously obtained right heart catheterization (RHC). Patients were mostly Caucasian women, with functional class III symptoms, mean BNP of 406 ± 443 pg/mL, and an average right atrial pressure (RAP) of 9...
May 1, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29702565/self-medication-with-antibiotics-attitude-and-knowledge-of-antibiotic-resistance-among-community-residents-and-undergraduate-students-in-northwest-nigeria
#11
Olumide Ajibola, Olusola Akintoye Omisakin, Anthonius Anayochukwu Eze, Semeeh Akinwale Omoleke
This study set out to evaluate self-medicated antibiotics and knowledge of antibiotic resistance among undergraduate students and community members in northern Nigeria. Antibiotic consumption pattern, source of prescription, illnesses commonly treated, attitude towards antibiotics, and knowledge of antibiotic resistance were explored using a structured questionnaire. Responses were analyzed and summarized using descriptive statistics. Of the 1230 respondents from undergraduate students and community members, prescription of antibiotics by a physician was 33% and 57%, respectively, amongst undergraduate students and community members...
April 27, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29702563/hepatitis-c-in-pregnancy
#12
Pratima Dibba, Rosann Cholankeril, Andrew A Li, Meera Patel, Mariam Fayek, Christy Dibble, Nnenna Okpara, Autumn Hines, Aijaz Ahmed
The prevalence of hepatitis C in pregnancy is as high as 3.6% in large cohorts. The prevalence of hepatitis C acquired by vertical transmission is 0.2% to 0.4% in the United States and Europe. Although screening is not recommended in the absence of certain risk factors, the importance of understanding hepatitis C in pregnancy lies in its association with adverse maternal and neonatal outcomes. There is potential for those infants infected by vertical transmission to develop chronic hepatitis C, cirrhosis or hepatocellular carcinoma...
April 27, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29695061/use-of-leukocyte-platelet-l-prf-rich-fibrin-in-diabetic-foot-ulcer-with-osteomyelitis-three-clinical-cases-report
#13
Alessandro Crisci, Giuseppe Marotta, Anna Licito, Edda Serra, Giulio Benincasa, Michela Crisci
In this study, the use of fibrin rich in leukocytes and platelets (L-PRF) was explored to heal osteomyelitis ulcers in a diabetic foot. The goal was to standardize the utilization of L-PRF in patients with osteomyelitis to direct it for healing. L-PRF was obtained autologously from the peripheral blood of the diabetic patients ( n = 3) having osteomyelitis and skin lesions for at least six months. The L-PRF and supernatant serum were inserted into the skin lesion to the bone after a surgical debridement. The evolution of lesions over time was analyzed...
April 24, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29690499/levels-of-soluble-endothelium-adhesion-molecules-and-complications-among-sickle-cell-disease-patients-in-ghana
#14
Charles Antwi-Boasiako, Eric S Donkor, Fredericka Sey, Bartholomew Dzudzor, Gifty B Dankwah, Kate H Otu, Alfred Doku, Campbell A Dale, Ivy Ekem
BACKGROUND: Soluble adhesion molecules are involved in the gathering and joining of inflammatory cells to vascular endothelium. Therefore, they serve as potential markers of endothelial dysfunction in vascular diseases including sickle cell disease (SCD). In Ghana, there are scarcely any report on the levels of adhesion molecules among SCD patients. The current study aimed to determine plasma levels of ICAM-1, VCAM-1 and E-Selectin as markers of endothelial dysfunction in SCD patients in steady state, complications and controls...
April 21, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29677102/implications-of-pi3k-akt-pten-signaling-on-superoxide-dismutases-expression-and-in-the-pathogenesis-of-alzheimer-s-disease
#15
REVIEW
Satoru Matsuda, Yukie Nakagawa, Ai Tsuji, Yasuko Kitagishi, Atsuko Nakanishi, Toshiyuki Murai
Alzheimer’s disease is a neurodegenerative sickness, where the speed of personal disease progression differs prominently due to genetic and environmental factors such as life style. Alzheimer’s disease is described by the construction of neuronal plaques and neurofibrillary tangles composed of phosphorylated tau protein. Mitochondrial dysfunction may be a noticeable feature of Alzheimer’s disease and increased production of reactive oxygen species has long been described. Superoxide dismutases (SODs) protect from excess reactive oxygen species to form less reactive hydrogen peroxide...
April 20, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29677098/update-treatment-for-hbv-infection-and-persistent-risk-for-hepatocellular-carcinoma-prospect-for-an-hbv-cure
#16
REVIEW
Joseph Yoo, Hie-Won Hann, Robert Coben, Mitchell Conn, Anthony J DiMarino
Since the discovery of the hepatitis B virus (HBV) by Blumberg et al. in 1965, its genome, sequence, epidemiology, and hepatocarcinogenesis have been elucidated. Globally, hepatitis B virus (HBV) is still responsible for the majority of hepatocellular carcinoma (HCC). HCC is the sixth-most common cancer in the world and the second-most common cancer death. The ultimate goal of treating HBV infection is the prevention of HCC. Fortunately, anti-HBV treatment with nucleos(t)ide analogues (NAs), which began with lamivudine in 1998, has resulted in remarkable improvements in the survival of patients with chronic hepatitis B and a reduced incidence of HCC...
April 20, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29652794/the-voice-of-the-heart-vowel-like-sound-in-pulmonary-artery-hypertension
#17
Mohamed Elgendi, Prashant Bobhate, Shreepal Jain, Long Guo, Jennifer Rutledge, Yashu Coe, Roger Zemp, Dale Schuurmans, Ian Adatia
Increased blood pressure in the pulmonary artery is referred to as pulmonary hypertension and often is linked to loud pulmonic valve closures. For the purpose of this paper, it was hypothesized that pulmonary circulation vibrations will create sounds similar to sounds created by vocal cords during speech and that subjects with pulmonary artery hypertension (PAH) could have unique sound signatures across four auscultatory sites. Using a digital stethoscope, heart sounds were recorded at the cardiac apex, 2nd left intercostal space (2LICS), 2nd right intercostal space (2RICS), and 4th left intercostal space (4LICS) undergoing simultaneous cardiac catheterization...
April 13, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29642647/erbb1-and-erbb2-positive-medullary-thyroid-carcinoma-a-case-report
#18
Michele Minuto, Emanuela Varaldo, Gianluca Marcocci, Amleto de Santanna, Ermanno Ciccone, Katia Cortese
Medullary thyroid carcinomas (MTCs) are rare thyroid tumors occurring in both sporadic and hereditary forms, whose pathogenesis is related to RET proto-oncogene alterations. MTCs originate from parafollicular cells, which produce calcitonin that represents the biochemical activity of MTC. Total thyroidectomy is the main treatment for MTC and often cures patients with confined diseases. In the presence of metastasis, the therapeutic approach depends on the rate of disease progression. We report a case of a 54-year-old female with a single, incidentally discovered, thyroid nodule of 1 cm, classified as suspicious MTC after a stimulation test with intravenous (iv) calcium...
April 10, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29614023/genomic-influence-in-the-prevention-of-cardiovascular-diseases-with-a-sterol-based-treatment
#19
Ismael San Mauro Martín, Javier Andrés Blumenfeld Olivares, Eva Pérez Arruche, Esperanza Arce Delgado, María José Ciudad Cabañas, Elena Garicano Vilar, Luis Collado Yurrita
Raised serum cholesterol concentration is a well-established risk factor in cardiovascular disease. In addition, genetic load may have an indirect influence on cardiovascular risk. Plant-based sterol-supplemented foods are recommended to help reduce the serum low-density lipoprotein cholesterol level. The objective was to analyse the influence of different polymorphisms in hypercholesterolemia patients following a dietary treatment with plant sterols. A randomised double-blind cross-over controlled clinical trial was carried out in 45 people (25 women)...
April 3, 2018: Diseases (Basel)
https://www.readbyqxmd.com/read/29614774/the-brain-intestinal-mucosa-appendix-microbiome-brain-loop
#20
Luis Vitetta, Gemma Vitetta, Sean Hall
The brain and the gut are connected from early fetal life. The mother's exposure to microbial molecules is thought to exert in utero developmental effects on the fetus. These effects could importantly underpin the groundwork for subsequent pathophysiological mechanisms for achieving immunological tolerance and metabolic equilibrium post birth, events that continue through to 3-4 years of age. Furthermore, it is understood that the microbiome promotes cues that instruct the neonate's mucosal tissues and skin in the language of molecular and cellular biology...
April 1, 2018: Diseases (Basel)
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