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https://www.readbyqxmd.com/read/28926334/family-phenotypic-heterogeneity-caused-by-mitochondrial-dna-mutation-a3243g
#1
Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge...
August 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28925362/generation-of-a-klf15-homozygous-knockout-human-embryonic-stem-cell-line-using-paired-crispr-cas9n-and-human-cardiomyocytes-derivation
#2
Claudia Noack, Luis Peter Haupt, Wolfram-Hubertus Zimmermann, Katrin Streckfuss-Bömeke, Laura Cecilia Zelarayán
Krueppel-like factor 15 (KLF15) is abundantly expressed in liver, kidney, and muscle, including myocardium. In the adult heart KLF15 is important to maintain homeostasis and to repress hypertrophic remodeling. We generated a homozygous hESC KLF15 knockout (KO) line using paired CRISPR/Cas9n. KLF15-KO cells maintained full pluripotency and differentiation potential as well as genomic integrity. We demonstrated that KLF15-KO cells can be differentiated into morphologically normal cardiomyocytes turning them into a valuable tool for studying human KLF15-mediated mechanisms resulting in human cardiac dysfunction...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28924949/anatomic-ligament-consolidation-of-the-superior-acromioclavicular-ligament-and-the-coracoclavicular-ligament-complex-after-acute-arthroscopically-assisted-double-coracoclavicular-bundle-stabilization
#3
S Jobmann, J Buckup, C Colcuc, P P Roessler, E Zimmermann, K F Schüttler, R Hoffmann, F Welsch, T Stein
PURPOSE: The consolidation of the acromioclavicular (AC) and coracoclavicular (CC) ligament complex after arthroscopically assisted stabilization of acute acromioclavicular joint (ACJ) separation is still under consideration. METHODS: Fifty-five consecutive patients after arthroscopically assisted double-CC-bundle stabilization within 14 days after acute high-grade ACJ separation were studied prospectively. All patients were clinically analysed preoperatively (FU0) and post-operatively (FU1 = 6 months; FU2 = 12 months)...
September 18, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/28924076/third-and-fourth-heart-sounds-and-myocardial-fibrosis-in-hypertrophic-cardiomyopathy
#4
Yoshimi Sato, Tatsuya Kawasaki, Sakiko Honda, Kuniyasu Harimoto, Shigeyuki Miki, Tadaaki Kamitani, Hirokazu Shiraishi, Satoaki Matoba
BACKGROUND: The 4th heart sound (S4) is commonly heard in patients with hypertrophic cardiomyopathy (HCM). The 3rd heart sound (S3) is also audible in HCM patients regardless of the presence or absence of heart failure. These extra heart sounds may be associated with myocardial fibrosis because myocardial fibrosis has been suggested to affect left ventricular compliance.Methods and Results:The present retrospective study evaluated 53 consecutive HCM patients with sinus rhythm who had no symptoms of heart failure and underwent an initial assessment including phonocardiography, echocardiography, and late gadolinium enhancement (LGE) magnetic resonance imaging (MRI)...
September 16, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28923663/modulation-of-the-picosecond-dynamics-of-troponin-by-the-cardiomyopathy-causing-mutation-k247r-of-troponin-t-observed-by-quasielastic-neutron-scattering
#5
Tatsuhito Matsuo, Taiki Tominaga, Fumiaki Kono, Kaoru Shibata, Satoru Fujiwara
Troponin (Tn), consisting of three subunits (TnC, TnI, and TnT), regulates cardiac muscle contraction in a Ca(2+)-dependent manner. Various point mutations of human cardiac Tn are known to cause familial hypertrophic cardiomyopathy due to aberration of the regulatory function. In this study, we investigated the effects of one of these mutations, K247R of TnT, on the picosecond dynamics of the Tn core domain (Tn-CD), consisting of TnC, TnI and TnT2 (183-288 residues of TnT), by carrying out the quasielastic neutron scattering measurements on the reconstituted Tn-CD containing either the wild-type TnT2 (wtTn-CD) or the mutant TnT2 (K247R-Tn-CD) in the absence and presence of Ca(2+)...
September 15, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28923351/functionally-redundant-control-of-cardiac-hypertrophic-signaling-by-inositol-1-4-5-trisphosphate-receptors
#6
M Iveth Garcia, Anja Karlstaedt, Jessica J Chen, Javier Amione-Guerra, Keith A Youker, Heinrich Taegtmeyer, Darren Boehning
Calcium plays an integral role to many cellular processes including contraction, energy metabolism, gene expression, and cell death. The inositol 1, 4, 5-trisphosphate receptor (IP3R) is a calcium channel expressed in cardiac tissue. There are three IP3R isoforms encoded by separate genes. In the heart, the IP3R-2 isoform is reported to being most predominant with regards to expression levels and functional significance. The functional roles of IP3R-1 and IP3R-3 in the heart are essentially unexplored despite measureable expression levels...
September 15, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28923317/calcified-cartilage-or-bone-collagens-in-the-tessellated-endoskeletons-of-cartilaginous-fish-sharks-and-rays
#7
Ronald Seidel, Michael Blumer, Elisabeth-Judith Pechriggl, Kady Lyons, Brian K Hall, Peter Fratzl, James C Weaver, Mason N Dean
The primary skeletal tissue in elasmobranchs -sharks, rays and relatives- is cartilage, forming both embryonic and adult endoskeletons. Only the skeletal surface calcifies, exhibiting mineralized tiles (tesserae) sandwiched between a cartilage core and overlying fibrous perichondrium. These two tissues are based on different collagens (Coll II and I, respectively), fueling a long-standing debate as to whether tesserae are more like bone (Coll 1-based) or calcified cartilage in their matrix composition. We demonstrate that stingray (Urobatis halleri) tesserae are bipartite, having an upper Coll I-based "cap" that merges into a lower Coll II-based "body" zone, although tesserae are surrounded by cartilage...
September 15, 2017: Journal of Structural Biology
https://www.readbyqxmd.com/read/28922972/perioperative-anesthetic-management-of-patients-having-liver-transplantation-for-uncommon-conditions
#8
Anthony Bonavia, Justin Pachuski, Dmitri Bezinover
This review focuses on the perioperative anesthetic management of patients having liver transplantation (LT) performed for several uncommon indications or in combination with rare pathology. Conditions discussed in the article include Alagille syndrome, hypertrophic cardiomyopathy, Gilbert's syndrome, porphyria, Wilson's disease, and Budd-Chiari syndrome. In comparison to other indications, LT in these settings is infrequent because of the low incidence of these pathologies. Most of these conditions (with the exception of Gilbert syndrome) are associated with a high probability of significant perioperative complications and increased mortality and morbidity...
September 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28921420/causes-of-an-increased-pressure-gradient-through-the-left-ventricular-outflow-tract-a-west-coast-experience
#9
Sayuki Kobayashi, Yoshihiko Sakai, Isao Taguchi, Hiroto Utsunomiya, Takahiro Shiota
BACKGROUND: Left ventricular outflow tract obstruction (LVOTO) occurs from not only obstructive hypertrophic cardiomyopathy but also other conditions such as sigmoid septum or post mitral valve repair. However, the changes of the LVOT pressure gradient (LVOT PG) in LVOTO with various conditions remain unclear. METHODS: The clinical characteristics and echocardiographic parameters of 73 patients with LVOT PG ≥50 mmHg at rest on Doppler ultrasound were retrospectively investigated...
September 18, 2017: Journal of Echocardiography
https://www.readbyqxmd.com/read/28920921/increased-intracellular-proteolysis-reduces-disease-severity-in-an-er-stress-associated-dwarfism
#10
Lorna A Mullan, Ewa J Mularczyk, Louise H Kung, Mitra Forouhan, Jordan Ma Wragg, Royston Goodacre, John F Bateman, Eileithyia Swanton, Michael D Briggs, Raymond P Boot-Handford
The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutations in type X collagen, which increase ER stress by inducing misfolding of the mutant protein and subsequently disrupting hypertrophic chondrocyte differentiation. Here, we show that carbamazepine (CBZ), an autophagy-stimulating drug that is clinically approved for the treatment of seizures and bipolar disease, reduced the ER stress induced by 4 different MCDS-causing mutant forms of collagen X in human cell culture...
September 18, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28919186/non-surgical-treatment-of-delayed-onset-brachial-plexopathy-due-to-hypertrophic-clavicular-callus-a-case-report
#11
REVIEW
Benjamin M Carpenter, David R Pettersson, Adam J Mirarchi, Drew Groshong, Hans L Carlson
Clavicular fractures are common injuries which are traditionally managed non-surgically without clinically significant sequelae. However, they may develop hypertrophic callus formation that compresses the brachial plexus. These cases may present months to years after initial injury with varying degrees of pain, paresthesia and weakness on the affected side, and are usually treated by surgical resection of the hypertrophic callus. We present a case of brachial plexopathy due to hypertrophic clavicular callus causing weakness and paresthesia...
September 12, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28919046/fgf23-activates-injury-primed-renal-fibroblasts-via-fgfr4-dependent-signalling-and-enhancement-of-tgf-%C3%AE-autoinduction
#12
Edward R Smith, Stephen G Holt, Tim D Hewitson
Bone-derived fibroblast growth factor 23 (FGF23) is an important endocrine regulator of mineral homeostasis with effects transduced by cognate FGF receptor (FGFR)1-α-Klotho complexes. Circulating FGF23 levels rise precipitously in patients with kidney disease and portend to worse renal and cardiovascular outcomes. De novo expression of FGF23 has been found in the heart and kidney following injury but its significance remains unclear. Studies showing that exposure to chronically high FGF23 concentrations activates hypertrophic gene programmes in the cardiomyocyte, has spawned intense interest in other pathological off-target effects of FGF23 excess...
September 14, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28917552/crispr-correction-of-the-prkag2-gene-mutation-in-the-patient-s-ipsc-derived-cardiomyocytes-eliminates-the-electrophysiological-and-structural-abnormalities
#13
Ronen Ben Jehuda, Binyamin Eisen, Yuval Shemer, Lucy N Mekies, Agnes Szantai, Irina Reiter, Huanhuan Cui, Kaomei Guan, Shiraz Haron-Khun, Dov Freimark, Silke R Sperling, Mihaela Gherghiceanu, Michael Arad, Ofer Binah
BACKGROUND: Mutations in the PRKAG2 gene encoding the γ-subunit of adenosine monophosphate-kinase (AMPK) cause hypertrophic cardiomyopathy (HCM) and familial-Wolff-Parkinson-White syndrome (WPW). Patients carrying the R302Q mutation in PRKAG2 present sinus bradycardia, escape rhythms, ventricular pre-excitation, supraventricular tachycardia and atrioventricular block. This mutation affects AMPK activity and increases glycogen storage in cardiomyocytes. The link between glycogen storage, WPW, HCM and arrhythmias remains unknown...
September 13, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28916721/loss-of-cardiac-carnitine-palmitoyltransferase-2-results-in-rapamycin-resistant-acetylation-independent-hypertrophy
#14
Andrea S Pereyra, Like Y Hasek, Kate L Harris, Alycia G Berman, Frederick W Damen, Craig J Goergen, Jessica M Ellis
Cardiac hypertrophy is closely linked to impaired fatty acid oxidation, but the molecular basis of this link is unclear. Here, we investigated the loss of an obligate enzyme in mitochondrial long-chain fatty acid oxidation, carnitine palmitoyltransferase 2 (CPT2), on muscle and heart structure, function, and molecular signatures in a muscle- and heart-specific CPT2-deficient mouse (Cpt2M-/-) model. CPT2 loss in heart and muscle reduced complete oxidation of long-chain fatty acids by 87% and 69%, respectively, without altering body weight, energy expenditure, respiratory quotient, or adiposity...
September 15, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28916640/clinical-profile-and-consequences-of-atrial-fibrillation-in-hypertrophic-cardiomyopathy
#15
Ethan J Rowin, Anais Hausvater, Mark S Link, Patrick Abt, William Gionfriddo, Wendy Wang, Hassan Rastegar, N A Mark Estes, Martin S Maron, Barry J Maron
Background -Atrial fibrillation (AF), the most common sustained arrhythmia in hypertrophic cardiomyopathy (HCM), is capable of producing symptoms that impact quality of life and is associated with risk for embolic stroke. However, the influence of AF on clinical course and outcome in HCM remains incompletely resolved. Methods -Records were accessed of 1558 consecutive patients followed at the Tufts Medical Center Hypertrophic Cardiomyopathy Institute for 4.8 ± 3.4 years, from 2004 to 2014. Results -Of the 1558 HCM patients, 304 (20%) had episodes of AF, of which 226 (74%) were confined to symptomatic paroxysmal AF (PAF; average 5 ± 5; range 1 to > 20), while 78 (26%) developed permanent AF, preceded by 7 ± 6 PAF episodes...
September 15, 2017: Circulation
https://www.readbyqxmd.com/read/28916354/abnormal-sodium-channel-mrna-splicing-in-hypertrophic-cardiomyopathy
#16
Adam M Noyes, Anyu Zhou, Ge Gao, Lianzhi Gu, Sharlene Day, J Andrew Wasserstrom, Samuel C Dudley
BACKGROUND: Our previous studies showed that in ischemic and nonischemic heart failure (HF), the voltage-gated cardiac Na(+) channel α subunit (SCN5A) mRNA is abnormally spliced to produce two truncated transcript variants (E28C and D) that activate the unfolded protein response (UPR). We tested whether SCN5A post-transcriptional regulation was abnormal in hypertrophic cardiomyopathy (HCM). MATERIAL AND METHODS: Human heart tissue was obtained from HCM patients...
September 7, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28915562/detecting-the-genetic-link-between-alzheimer-s-disease-and-obesity-using-bioinformatics-analysis-of-gwas-data
#17
Qi-Shuai Zhuang, Hao Zheng, Xiao-Dan Gu, Liang Shen, Hong-Fang Ji
Alzheimer's disease (AD) represents the major form of dementia in the elderly. In recent years, accumulating evidence indicate that obesity may act as a risk factor for AD, while the genetic link between the two conditions remains unclear. This bioinformatics analysis aimed to detect the genetic link between AD and obesity on single nucleotide polymorphisms (SNPs), gene, and pathway levels based on genome-wide association studies data. A total of 31 SNPs were found to be shared by AD and obesity, which were linked to 7 genes...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28914997/synergistic-effect-of-l-ascorbic-acid-and-hyaluronic-acid-on-the-expressions-of-matrix-metalloproteinase-3-and-9-in-human-chondrocytes
#18
Teng-Le Huang, Che-Hua Yang, Goichi Yanai, Jo-Yu Liao, Shoichiro Sumi, Kai-Chiang Yang
Proinflammatory cytokines and reactive oxygen species (ROS) are known to be involved in the initiation and progression of osteoarthritis (OA). New evidence clarifying the correlation between ROS and inflammation has indicated that oxidative stress can up-regulate inflammatory cytokines. l-Ascorbic acid (AA), an antioxidant, has been shown to have anti-inflammatory effects and improve matrix deposition in chondrocytes. The purpose of this study was to examine the effects of hyaluronic acid (HA; 100 μg/mL) supplemented with AA (50 μg/mL) on human normal and interleukin-1 beta-stimulated (IL-1β, 10 ng/mL) chondrocytes...
September 15, 2017: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
https://www.readbyqxmd.com/read/28914426/resistance-training-status-modifies-inflammatory-response-to-explosive-and-hypertrophic-resistance-exercise-bouts
#19
Johanna K Ihalainen, Juha P Ahtiainen, Simon Walker, Gøran Paulsen, Harri Selänne, Mari Hämäläinen, Eeva Moilanen, Heikki Peltonen, Antti A Mero
The purpose of the present study was to examine the immediate and prolonged immune response in circulating cytokine and adipocytokine concentrations after two different resistance exercise bouts: hypertrophic (HYP1, 5 × 10, 80% of 1RM) and maximal explosive (POW1, 10 × 5, 60% of 1RM) resistance exercise bouts and how 12 weeks of resistance training (RT) modifies these responses (HYP2, POW2). Eight men completed the study. RE-induced interleukin-6 (IL-6), interleukin-1β (IL-1β), interleukin-1 receptor antagonist (IL-1ra), monocyte-chemoattractant protein-1 (MCP-1), leptin, resistin, and adiponectin were measured before (PRE) and immediately (POST0), 24 (POST24) and 48 (POST48) hours after RE bouts before and after RT...
September 15, 2017: Journal of Physiology and Biochemistry
https://www.readbyqxmd.com/read/28913168/feasibility-of-photoacoustic-ultrasound-imaging-of-synovitis-in-finger-joints-using-a-point-of-care-system
#20
Pim J van den Berg, Khalid Daoudi, Hein J Bernelot Moens, Wiendelt Steenbergen
We evaluate a portable ultrasound and photoacoustic imaging (PAI) system for the feasibility of a point-of-care assessment of clinically evident synovitis. Inflamed and non-inflamed proximal interphalangeal joints of 10 patients were examined and compared with joints from 7 healthy volunteers. PAI scans, ultrasound power Doppler (US-PD), and clinical examination were performed. We quantified the amount of photoacoustic (PA) signal using a region of interest (ROI) drawn over the hypertrophic joint space. PAI response was increased 4 to 10 fold when comparing inflamed with contralateral non-inflamed joints and with joints from healthy volunteers (p < 0...
December 2017: Photoacoustics
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