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BBA Clinical

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https://www.readbyqxmd.com/read/27904835/a-novel-dominant-d109a-cryab-mutation-in-a-family-with-myofibrillar-myopathy-affects-%C3%AE-b-crystallin-structure
#1
Jakub P Fichna, Anna Potulska-Chromik, Przemysław Miszta, Maria Jolanta Redowicz, Anna M Kaminska, Cezary Zekanowski, Sławomir Filipek
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins, including αB-crystallin (CRYAB), a small heat shock protein (also called HSPB5). Here, we report a case study of a 63-year-old Polish female with a progressive lower limb weakness and muscle biopsy suggesting a myofibrillar myopathy, and extra-muscular multisystemic involvement, including cataract and cardiomiopathy...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/27896137/lymph-node-or-perineural-invasion-is-associated-with-low-mir-15a-mir-34c-and-mir-199b-levels-in-head-and-neck-squamous-cell-carcinoma
#2
Lucas O Sousa, Lays M Sobral, Camila S Matsumoto, Fabiano P Saggioro, Rossana V M López, Rodrigo A Panepucci, Carlos Curti, Wilson A Silva, Lewis J Greene, Andréia M Leopoldino
BACKGROUND: MicroRNAs (miRNAs or miRs) are post-transcriptional regulators of eukaryotic cells and knowledge of differences in miR levels may provide new approaches to diagnosis and therapy. METHODS: The present study measured the levels of nine miRs in head and neck squamous cell carcinomas (HNSCC) and determined whether clinical pathological features are associated with differences in miR levels. SET (I2PP2A) and PTEN protein levels were also measured, since their levels can be regulated by miR-199b and miR-21, respectively...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27896136/attention-deficit-hyperactivity-disorder-suffers-from-mitochondrial-dysfunction
#3
Poonam Verma, Alpana Singh, Dominic Ngima Nthenge-Ngumbau, Usha Rajamma, Swagata Sinha, Kanchan Mukhopadhyay, Kochupurackal P Mohanakumar
BACKGROUND: Pathophysiology of attention-deficit hyperactivity disorder (ADHD) is not known, and therefore the present study investigated mitochondrial defects, if any in cybrids created from patients and control population. METHODS: To investigate mitochondrial pathology in ADHD, cybrids cell lines were created from ADHD probands and controls by fusing their platelets with ρ(0)-cells prepared from SH-SY5Y neuroblastoma cell line. Cellular respiration, oxidative stress, mitochondrial membrane potential and morphology were evaluated employing oxygraph, mitochondria-specific fluorescence staining and evaluation by FACS, and immunocytochemistry...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27882303/ovarian-like-differentiation-in-eutopic-and-ectopic-endometrioses-with-aberrant-fsh-receptor-insl3-and-gata4-6-expression
#4
Baptiste Fouquet, Pietro Santulli, Jean-Christophe Noel, Micheline Misrahi
Endometriosis, the hormone-dependent extrauterine dissemination of endometrial tissue outside the uterus, affects 5-15% of women of reproductive age. Pathogenesis remains poorly understood as well as the estrogen production by endometriotic tissue yielding autocrine growth. Estrogens (E2) are normally produced by the ovaries. We investigated whether aberrant "ovarian-like" differentiation occurred in endometriosis. 69 women, with (n = 38) and without (n = 31) histologically proven endometriosis were recruited...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27785418/clinical-significance-of-serum-omentin-1-levels-in-patients-with-pancreatic-adenocarcinoma
#5
Senem Karabulut, Cigdem Usul Afsar, Mehmet Karabulut, Halil Alis, Mehmet Abdussamet Bozkurt, Fatma Aydogan, Murat Serilmez, Faruk Tas
BACKGROUND: Omentin is related with metabolic syndrome and obesity. Pancreatic adenocarcinoma (PA) is a lethal and obesity-linked malignancy. This study was conducted to investigate the serum levels of omentin in patients with PA and the relationship with tumor progression and known prognostic parameters. MATERIAL AND METHODS: Serum samples were obtained from thirty-three patients on first admission before any treatment. Age, sex and body mass index (BMI) matched 30 healthy controls were included in the analysis...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27785417/metabolic-response-to-glatiramer-acetate-therapy-in-multiple-sclerosis-patients
#6
Lidia De Riccardis, Alessandra Ferramosca, Antonio Danieli, Giorgio Trianni, Vincenzo Zara, Francesca De Robertis, Michele Maffia
Glatiramer acetate (GA; Copaxone) is a random copolymer of glutamic acid, lysine, alanine, and tyrosine used for the treatment of patients with multiple sclerosis (MS). Its mechanism of action has not been already fully elucidated, but it seems that GA has an immune-modulatory effect and neuro-protective properties. Lymphocyte mitochondrial dysfunction underlines the onset of several autoimmune disorders. In MS first diagnosis patients, CD4(+), the main T cell subset involved in the pathogenesis of MS, undergo a metabolic reprogramming that consist in the up-regulation of glycolysis and in the down-regulation of oxidative phosphorylation...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27761414/controversies-and-evidence-of-hepatic-resection-for-hepatocellular-carcinoma
#7
Jian-Hong Zhong, Guido Torzilli, Hao Xing, Chao Li, Jun Han, Lei Liang, Han Zhang, Shu-Yang Dai, Le-Qun Li, Feng Shen, Tian Yang
Symptoms of early hepatocellular carcinoma (HCC) often go unnoticed, so more than half of patients with primary HCC are diagnosed after their disease has already reached an intermediate or advanced stage, or after portal hypertension has appeared. While hepatic resection is widely recognized as a first-line therapy to treat very early or early HCC, its use in treating intermediate or advanced HCC or HCC involving portal hypertension remains controversial. Here we review PubMed-indexed literature covering the use of hepatic resection for such patients...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27752476/shining-light-on-the-head-photobiomodulation-for-brain-disorders
#8
Michael R Hamblin
Photobiomodulation (PBM) describes the use of red or near-infrared light to stimulate, heal, regenerate, and protect tissue that has either been injured, is degenerating, or else is at risk of dying. One of the organ systems of the human body that is most necessary to life, and whose optimum functioning is most worried about by humankind in general, is the brain. The brain suffers from many different disorders that can be classified into three broad groupings: traumatic events (stroke, traumatic brain injury, and global ischemia), degenerative diseases (dementia, Alzheimer's and Parkinson's), and psychiatric disorders (depression, anxiety, post traumatic stress disorder)...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27635386/st-elevation-myocardial-infarction-risk-in-the-very-elderly
#9
Alessandra M Campos, Andrea Placido-Sposito, Wladimir M Freitas, Filipe A Moura, Maria Elena Guariento, Wilson Nadruz, Emilio H Moriguchi, Andrei C Sposito
BACKGROUND: Despite the high incidence and mortality of ST-segment elevation myocardial infarction (STEMI) among the very elderly, risk markers for this condition remain poorly defined. This study was designed to identify independent markers of STEMI among individuals carefully selected for being healthy or manifesting STEMI in < 24 h. METHODS: We enrolled participants aged 80 years or older of whom 50 were STEMI patients and 207 had never manifested cardiovascular diseases...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27617228/treatment-with-recombinant-human-bone-morphogenetic-protein-7-leads-to-a-transient-induction-of-neutralizing-autoantibodies-in-a-subset-of-patients
#10
Andrea Schuette, Arash Moghaddam, Petra Seemann, Georg N Duda, Gerhard Schmidmaier, Lutz Schomburg
BACKGROUND: Recombinant human bone morphogenetic protein 7 (rhBMP7) is applied for treatment of bone fractures, especially tibial non-unions. Its application may induce autoantibodies (aAB) affecting the targeted and endogenous signaling pathways and in turn negatively impact treatment efficacy. METHODS: Novel and sensitive assays for the quantification of BMP7-aAB and BMP2-aAB were established and used to analyze serum samples from healthy controls (n = 100 men, n = 100 women) and patients with long bone fracture (n = 265) treated or not with rhBMP7...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27556014/the-broken-off-switch-in-cancer-signaling-pp2a-as-a-regulator-of-tumorigenesis-drug-resistance-and-immune-surveillance
#11
REVIEW
Peter P Ruvolo
Aberrant activation of signal transduction pathways can transform a normal cell to a malignant one and can impart survival properties that render cancer cells resistant to therapy. A diverse set of cascades have been implicated in various cancers including those mediated by serine/threonine kinases such RAS, PI3K/AKT, and PKC. Signal transduction is a dynamic process involving both "On" and "Off" switches. Activating mutations of RAS or PI3K can be viewed as the switch being stuck in the "On" position resulting in continued signaling by a survival and/or proliferation pathway...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27453822/induction-of-differentiation-in-psoriatic-keratinocytes-by-propylthiouracil-and-fructose
#12
Santhosh Arul, Haripriya Dayalan, Muhilan Jegadeesan, Prabhavathy Damodharan
Psoriasis is characterized by uncontrolled proliferation and poor differentiation. Sirtuin1 (SIRT1) a class III deacetylase, crucial for differentiation in normal keratinocytes, is reduced in psoriasis. Down regulated SIRT1 levels may contribute to poor differentiation in psoriasis. In addition, the levels of early differentiation factors Keratin1 (K1) and Keratin10 (K10) are depleted in psoriasis. We attempted to study a possible effect of fructose, a SIRT1 upregulator and Propylthiouracil (PTU) to augment differentiation in psoriatic keratinocytes...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27453821/lipid-profile-of-platelets-and-platelet-derived-microparticles-in-ovarian-cancer
#13
Qianghua Hu, Miao Wang, Min Soon Cho, Chunyan Wang, Alpa M Nick, Perumal Thiagarajan, Fleur M Aung, Xianlin Han, Anil K Sood, Vahid Afshar-Kharghan
BACKGROUND: Ovarian cancer patients have a high risk of developing venous thrombosis. The membrane lipid bilayer of platelets and platelet-derived microparticles (PMP) provides a platform for assembly of coagulation proteins and generation of blood clots. METHODS: We compared the lipid composition of platelets and PMPs in patients with ovarian cancer to those in healthy subjects. We used shotgun lipidomics to quantify 12 classes and 177 species of lipids. RESULTS: We found a significant change in 2 classes of lipids in platelets and PMPs isolated from ovarian cancer patients: higher phosphatidylinositol and lower lyso-phosphatidylcholine...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27413695/heart-failure-in-chemotherapy-related-cardiomyopathy-can-exercise-make-a-difference
#14
REVIEW
Nandini Nair, Enrique Gongora
Medical therapies in oncology have resulted in better survival resulting in a large population who are at risk of early and late cardiac complications of chemotherapy. Cardiotoxicity related to chemotherapy can manifest decades after treatment with a threefold higher mortality rate as compared to idiopathic dilated cardiomyopathy. The leading cause of death in cancer survivors seems to be cardiac. Early detection and intervention could prevent progression of heart failure to end stage disease requiring advanced therapies such as implantation of ventricular assist devices or cardiac transplantation...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27413694/generation-of-reactive-oxygen-species-in-the-anterior-eye-segment-synergistic-codrugs-of-n-acetylcarnosine-lubricant-eye-drops-and-mitochondria-targeted-antioxidant-act-as-a-powerful-therapeutic-platform-for-the-treatment-of-cataracts-and-primary-open-angle
#15
REVIEW
Mark A Babizhayev
Senile cataract is a clouding of the lens in the aging eye leading to a decrease in vision. Symptoms may include faded colors, blurry vision, halos around light, trouble with bright lights, and trouble seeing at night. This may result in trouble driving, reading, or recognizing faces. Cataracts are the cause of half of blindness and 33% of visual impairment worldwide. Cataracts result from the deposition of aggregated proteins in the eye lens and lens fiber cells plasma membrane damage which causes clouding of the lens, light scattering, and obstruction of vision...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27335804/analysis-of-glutathione-levels-in-the-brain-tissue-samples-from-hiv-1-positive-individuals-and-subject-with-alzheimer-s-disease-and-its-implication-in-the-pathophysiology-of-the-disease-process
#16
Tommy Saing, Minette Lagman, Jeffery Castrillon, Eutiquio Gutierrez, Frederick T Guilford, Vishwanath Venketaraman
HIV-1 positive individuals are at high risk for susceptibility to both pulmonary tuberculosis (TB) and extra-pulmonary TB, including TB meningitis (TBM) which is an extreme form of TB. The goals of this study are to determine the mechanisms responsible for compromised levels of glutathione (GSH) in the brain tissue samples derived from HIV-1-infected individuals and individuals with Alzheimer's disease (AD), investigate the possible underlying mechanisms responsible for GSH deficiency in these pathological conditions, and establish a link between GSH levels and pathophysiology of the disease processes...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27335803/epigenetics-in-heart-failure-phenotypes
#17
REVIEW
Alexander Berezin
Chronic heart failure (HF) is a leading clinical and public problem posing a higher risk of morbidity and mortality in different populations. HF appears to be in both phenotypic forms: HF with reduced left ventricular ejection fraction (HFrEF) and HF with preserved left ventricular ejection fraction (HFpEF). Although both HF phenotypes can be distinguished through clinical features, co-morbidity status, prediction score, and treatment, the clinical outcomes in patients with HFrEF and HFpEF are similar. In this context, investigation of various molecular and cellular mechanisms leading to the development and progression of both HF phenotypes is very important...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27335802/apoptotic-and-stress-signaling-markers-are-augmented-in-preeclamptic-placenta-and-umbilical-cord
#18
Syeda H Afroze, Ram R Kalagiri, Michelle Reyes, Jacqueline D Zimmerman, Madhava R Beeram, Nathan Drever, David C Zawieja, Thomas J Kuehl, Mohammad N Uddin
OBJECTIVE: Preeclampsia (preE) has a significant link to alterations of placental function leading to stress and apoptotic signaling, which pass the placental barrier and leave persistent defect in the circulation of the offspring. We assessed apoptotic signaling in placentas and umbilical cords from patients with and without preE. METHODS: We collected placental and cord tissues from 27 normal pregnant (NP) women and 20 preE consenting patients after delivery in an IRB approved prospective study...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27331024/three-families-with-de-novo-m-3243a%C3%A2-%C3%A2-g-mutation
#19
Paul de Laat, Mirian C H Janssen, Charlotte L Alston, Robert W Taylor, Richard J T Rodenburg, Jan A M Smeitink
The m.3243A > G mutation is the most prevalent, disease-causing mitochondrial DNA (mtDNA) mutation. In a national cohort study of 48 families harbouring the m.3243A > G mutation, we identified three families in which the mutation appeared to occur sporadically within these families. In this report we describe these three families. Based on detailed mtDNA analysis of three different tissues using two different quantitative pyrosequencing assays with sensitivity to a level of 1% mutated mtDNA, we conclude that the m...
December 2016: BBA Clinical
https://www.readbyqxmd.com/read/27331023/autoimmune-manifestations-in-patients-with-multiple-myeloma-and-monoclonal-gammopathy-of-undetermined-significance
#20
REVIEW
Alexei Shimanovsky, Juliana Alvarez Argote, Shruti Murali, Constantin A Dasanu
BACKGROUND: Multiple myeloma (MM) and its precursor, monoclonal gammopathy of undetermined significance (MGUS), have been linked with several autoimmune conditions in the medical literature. Yet, significance of these associations is not well understood. METHODS: Herein, we provide a comprehensive literature review on autoimmune disorders identified in patients with MM and MGUS. Most relevant papers were identified via searching the PubMed/Medline and EMBASE databases for articles published from inception until May 1, 2016...
December 2016: BBA Clinical
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