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https://www.readbyqxmd.com/read/29334914/-crying-without-tears-as-an-early-diagnostic-sign-post-of-triple-a-allgrove-syndrome-two-case-reports
#1
Daniel Tibussek, Sujal Ghosh, Angela Huebner, Joerg Schaper, Ertan Mayatepek, Katrin Koehler
BACKGROUND: Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However, the clinical picture as well as genetic testing may be complex since symptomatology is variable and mutations cannot be identified in all clinically diagnosed patients. We present two unrelated patients with triple-A syndrome illustrating the importance of alacrima as an early clinical sign...
January 15, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29243257/differential-impact-of-tongue-exercise-on-intrinsic-lingual-muscles
#2
Miranda J Cullins, Brittany N Krekeler, Nadine P Connor
OBJECTIVES/HYPOTHESIS: Aging is associated with muscle fiber hypotrophy and decreased percentages of rapidly contracting myosin heavy chain (MyHC) type IIb muscle fibers. Tongue exercise programs used to treat dysphagia target age-related decline in tongue muscle function, but the impact of exercise on the intrinsic tongue muscles is unknown. We hypothesized that exercise would induce muscle fiber hypertrophy and increase the percentage of MyHC IIa fibers in the intrinsic tongue. STUDY DESIGN: Animal model...
December 15, 2017: Laryngoscope
https://www.readbyqxmd.com/read/29233587/combined-capillary-venous-lymphatic-malformations-without-overgrowth-in-patients-with-klippel-tr%C3%A3-naunay-syndrome
#3
Elisa Brandigi, Giovanni Torino, Mario Messina, Francesco Molinaro, Oscar Mazzei, Tommaso Matucci, Juan Carlos López Gutiérrez
OBJECTIVE: Klippel-Trénaunay syndrome (KTS) is described in the literature as a complex syndrome characterized by various combinations of capillary, venous, and lymphatic malformations associated with limb overgrowth. In the first description by Maurice Klippel and Paul Trénaunay, tridimensional bone hypertrophy was believed to be the cause of limb enlargement. The purpose of this study was primarily to assess the presence of real bone hypertrophy as a cause of enlargement of the limb and to underline the rare presence of undergrowth of the affected limb in patients with KTS...
December 7, 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/29211452/promoted-chondrogenesis-of-co-cultured-chondrocytes-and-mesenchymal-stem-cells-under-hypoxia-using-in-situ-forming-degradable-hydrogel-scaffolds
#4
Xiaobin Huang, Yong Hou, Leilei Zhong, Dechun Huang, Hongliang Qian, Marcel Karperien, Wei Chen
We investigated the effects of different oxygen tension (21% and 2.5% O2) on the chondrogenesis of different cell systems cultured in pH-degradable PVA hydrogels including human articular chondrocytes (hACs), human mesenchymal stem cells (hMSCs) and their co-cultures with a hAC/hMSC ratio of 20/80. These hydrogels were prepared with vinyl ether acrylate-functionalized PVA (PVA-VEA) and thiolated PVA-VEA (PVA-VEA-SH) via Michael-type addition reaction. The rheology tests determined the gelation of the hydrogels was controlled within 2-7 min dependent on the polymer concentrations...
December 6, 2017: Biomacromolecules
https://www.readbyqxmd.com/read/29204738/the-association-between-myocardial-fibrosis-and-depressed-capillary-density-in-rat-model-of-left-ventricular-hypertrophy
#5
Ying Xiao, Yinjie Liu, Jiaming Liu, Y James Kang
Myocardial fibrogenesis is initiated once the coordination between oxygen supply and demand is disrupted in pressure overload-induced cardiac hypertrophy. Clinical observations showed that myocardial fibrosis did not evenly occur in the hypertrophic myocardium. The present study was undertaken to specifically address differential vulnerabilities to fibrogenesis of different regions in the myocardium subjected to pressure overload-induced hypertrophy. SD rats were divided into two groups, sham-operated control and ascending artery constriction-induced cardiac hypotrophy...
December 4, 2017: Cardiovascular Toxicology
https://www.readbyqxmd.com/read/29196222/volvulus-of-the-sigmoid-colon-is-associated-with-hypotrophy-of-the-left-lateral-segment-of-the-liver-and-the-absence-of-sigmoid-diverticulum
#6
M Barral, L Lassalle, R Dautry, C Eveno, J De Laveaucoupet, S Maitre, A Dohan, M Pocard, P Soyer
PURPOSE: To investigate the possible relationships between sigmoid diverticula, the volume of the left lateral segment of the liver and sigmoid colon volvulus. MATERIAL AND METHODS: The presence of sigmoid diverticula was analyzed in 36 patients (24 men, 12 women; mean age, 70.77±19.86 [SD] years) with sigmoid volvulus (group 1). The volumes of left lateral segment of the liver (i.e., segments 2 and 3 and further referred to as liver 1), liver 2 (i.e., segments 1, 4, 5, 6, 7 and 8), total liver volume and liver volume ratio (LVR) (i...
November 28, 2017: Diagnostic and Interventional Imaging
https://www.readbyqxmd.com/read/29178646/novel-autosomal-dominant-tnnt1-mutation-causing-nemaline-myopathy
#7
Chamindra G Konersman, Fernande Freyermuth, Thomas L Winder, Michael W Lawlor, Clotilde Lagier-Tourenne, Shailendra B Patel
BACKGROUND: Nemaline myopathy (NEM) is one of the three major forms of congenital myopathy and is characterized by diffuse muscle weakness, hypotonia, respiratory insufficiency, and the presence of nemaline rod structures on muscle biopsy. Mutations in troponin T1 (TNNT1) is 1 of 10 genes known to cause NEM. To date, only homozygous nonsense mutations or compound heterozygous truncating or internal deletion mutations in TNNT1 gene have been identified in NEM. This extended family is of historical importance as some members were reported in the 1960s as initial evidence that NEM is a hereditary disorder...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29157047/neurological-development-of-children-born-to-mothers-after-kidney-transplantation
#8
Joanna Schreiber-Zamora, Szpotańska-Sikorska Monika, Agnieszka Drozdowska-Szymczak, Natalia Czaplińska, Bronisława Pietrzak, Mirosław Wielgos, Bożena Kociszewska-Najman
BACKGROUND: Pregnancies after kidney transplantation are at high risk of complications such as preterm birth and foetal growth restriction. Until now, the impact of these factors on neurological development of children born to transplant mothers has not been established. AIMS: A comparison of neurological examinations performed in 36 children of kidney transplant women (study group) and 36 children born to healthy mothers (control group). The children from both groups were born at a similar gestational age and in the similar time period from 12/1996 to 09/2012...
November 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29123487/hypertrophy-stimulation-at-the-onset-of-type-i-diabetes-maintains-the-soleus-but-not-the-edl-muscle-mass-in-wistar-rats
#9
Marco A S Fortes, Maria V M Scervino, Gabriel N Marzuca-Nassr, Kaio F Vitzel, Carlos H da Justa Pinheiro, Rui Curi
Diabetes mellitus induces a reduction in skeletal muscle mass and strength. Strength training is prescribed as part of treatment since it improves glycemic control and promotes increase of skeletal muscle mass. The mechanisms involved in overload-induced muscle hypertrophy elicited at the establishment of the type I diabetic state was investigated in Wistar rats. The purpose was to examine whether the overload-induced hypertrophy can counteract the hypotrophy associated to the diabetic state. The experiments were performed in oxidative (soleus) or glycolytic (EDL) muscles...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29109381/epileptogenic-brain-malformations-and-mutations-in-tubulin-genes-a-case-report-and-review-of-the-literature
#10
Annalisa Mencarelli, Paolo Prontera, Gabriela Stangoni, Elisabetta Mencaroni, Nicola Principi, Susanna Esposito
Malformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Neurological disorders caused by abnormal neuronal migration have been observed to occur with mutations in tubulin genes. The α- and β-tubulin genes encode cytoskeletal proteins, which play a role in the developing brain. TUBA1A mutations are associated with a wide spectrum of neurological problems, which are characterized by peculiar clinical details and neuroradiologic patterns. This manuscript describes the case of a nine-year-old girl with microcephaly, mild facial dysmorphisms, epileptic seizures, and severe developmental delay, with a de novo heterozygous c...
October 29, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29099099/skeletal-muscle-from-birth-to-old-age-routes-to-mechanical-and-metabolic-failure
#11
Sofía Gitler, Ibrahim Rámirez, Ricardo Ramírez, Joel Medina, Pavel Vázquez, Alicia Ortega
Skeletal muscle (SM) is the most abundant tissue and the largest reservoir of protein in the body. It transports glucose in an insulin dependent manner by the glucose transporter type 4 (GLUT4) and contributes in the maintenance of serum amino acids concentration. By its mass and energetic requirements, it is fundamental for the systemic metabolic balance. In the present work, we present the effect of gestational undernourishment (GU) on the mechanical and metabolic properties of SM at birth and in old age in an animal model...
2017: Gaceta Médica de México
https://www.readbyqxmd.com/read/29021400/human-parvovirus-infection-of-human-airway-epithelia-induces-pyroptotic-cell-death-via-inhibiting-apoptosis
#12
Xuefeng Deng, Wei Zou, Min Xiong, Zekun Wang, John F Engelhardt, Shui Qing Ye, Ziying Yan, Jianming Qiu
Human bocavirus 1 (HBoV1) is a human parvovirus that causes acute respiratory tract infections in young children. In this study, we confirmed that, when polarized/well-differentiated human airway epithelia are infected with HBoV1 in vitro, they develop damage characterized by barrier function disruption and cell hypotrophy. Cell death mechanism analyses indicated that the infection induced pyroptotic cell death characterized by caspase-1 activation. Unlike infections with other parvoviruses, HBoV1 infection did not activate the apoptotic or necroptotic cell death pathway...
October 11, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28986396/ace-modulated-adiposity-is-related-to-higher-energy-expenditure-and-independent-of-lipolysis-and-glucose-incorporation-into-lipids-in-adipocytes
#13
Miriam Helena Fonseca-Alaniz, Talita Sayuri Higa, Tarcila Beatriz Ferraz-de-Campos, Julie Takada, Francisco L Torres-Leal, Fabiana Sant'Anna Evangelista, Fabio B Lima, José Eduardo Krieger
Emerging evidence suggests that both systemic and white adipose tissue (WAT)-renin-angiotensin system components influence body weight control. We previously demonstrated that higher angiotensin-converting enzyme (ACE) gene expression is associated with lower body adiposity in a rodent model. In this study, we tested the hypothesis that a higher ACE gene dosage reduces fat accumulation by increasing energy expenditure and modulating lipolysis and glucose incorporation into lipids in adipocytes. After a 12-week follow-up period, transgenic mice harboring 3 ACE (3ACE) gene copies, displayed diminished WAT mass, lipid content in their carcasses, adipocyte hypotrophy, and higher resting oxygen uptake (VO2) in comparison with animals with 1 ACE gene copy (1ACE) after long fasting (12-hour)...
October 6, 2017: Physiological Genomics
https://www.readbyqxmd.com/read/28974734/knockout-of-the-epilepsy-gene-depdc5-in-mice-causes-severe-embryonic-dysmorphology-with-hyperactivity-of-mtorc1-signalling
#14
James Hughes, Ruby Dawson, Melinda Tea, Dale McAninch, Sandra Piltz, Dominique Jackson, Laura Stewart, Michael G Ricos, Leanne M Dibbens, Natasha L Harvey, Paul Thomas
DEPDC5 mutations have recently been shown to cause epilepsy in humans. Evidence from in vitro studies has implicated DEPDC5 as a negative regulator of mTORC1 during amino acid insufficiency as part of the GATOR1 complex. To investigate the role of DEPDC5 in vivo we generated a null mouse model using targeted CRISPR mutagenesis. Depdc5 homozygotes display severe phenotypic defects between 12.5-15.5 dpc, including hypotrophy, anaemia, oedema, and cranial dysmorphology as well as blood and lymphatic vascular defects...
October 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28970945/intermittent-fasting-could-ameliorate-cognitive-function-against-distress-by-regulation-of-inflammatory-response-pathway
#15
Marjan Shojaie, Farzane Ghanbari, Nasrin Shojaie
Undesirable and desirable effects of stressors on the body are assigned to distress and eustress, respectively. Immune system and brain are the most susceptible parts to stressful conditions, whereas long-lasting alterations in putative immune proteins involved in tension such as corticosterone (CORT), interleukin 6 (IL-6), and tumor necrosis factor-alpha (TNF-α) can impact learning and memory. Intermittent fasting (IF) is a repeated regular cycle of dietary restriction with well-known beneficial properties on the body...
November 2017: Journal of Advanced Research
https://www.readbyqxmd.com/read/28967429/the-effects-of-knee-immobilization-on-marrow-adipocyte-hyperplasia-and-hypertrophy-at-the-proximal-rat-tibia-epiphysis
#16
Guy Trudel, Hans K Uhthoff, Sanjay Solanki, Odette Laneuville
Marrow adipose deposition is observed during aging and in association with extended periods of immobility. The objective of this study was to determine the contribution of adipocyte hypertrophy and hyperplasia to bone marrow fat deposition induced by immobilization of the rat knee joint for 2, 4, 16 or 32 weeks. Histomorphometric analyses compared immobilized to sham-operated proximal tibia from age and gender matched rats to assess the contribution of aging and duration of immobilization on the number and size of marrow adipocytes...
September 26, 2017: Acta Histochemica
https://www.readbyqxmd.com/read/28937235/heart-rate-variability-in-newborns
#17
K Javorka, Z Lehotska, M Kozar, Z Uhrikova, B Kolarovszki, M Javorka, M Zibolen
Heart rate (HR) and heart rate variability (HRV) in newborns is influenced by genetic determinants, gestational and postnatal age, and other variables. Premature infants have a reduced HRV. In neonatal HRV evaluated by spectral analysis, a dominant activity can be found in low frequency (LF) band (combined parasympathetic and sympathetic component). During the first postnatal days the activity in the high frequency (HF) band (parasympathetic component) rises, together with an increase in LF band and total HRV...
September 22, 2017: Physiological Research
https://www.readbyqxmd.com/read/28861292/update-on-the-novel-management-and-future-paternity-situation-in-adolescents-with-varicocele
#18
REVIEW
Selahittin Çayan, Murat Bozlu, Erdem Akbay
Varicocele is a progressive disease, and the incidence of varicocele and varicocele related testicular hypotrophy increases with puberty. This review updates novel management and future paternity potential in adolescents with varicocele. Main goal of treatment of the adolescent varicoceles is preservation of fertility. Current recommendations for adolescent varicocele repair are testicular hypotrophy (>2 mL or >20%) on the affected side and/or impaired spermatogenesis in the post-pubertal period. The best treatment modality for adolescent varicocele should include elimination of the varicocele with lower complication rates...
September 2017: Turkish Journal of Urology
https://www.readbyqxmd.com/read/28756311/neurogenesis-impairment-an-early-developmental-defect-in-down-syndrome
#19
REVIEW
Fiorenza Stagni, Andrea Giacomini, Marco Emili, Sandra Guidi, Renata Bartesaghi
Down syndrome (DS) is characterized by brain hypotrophy and intellectual disability starting from early life stages. Accumulating evidence shows that the phenotypic features of the DS brain can be traced back to the fetal period since the DS brain exhibits proliferation potency reduction starting from the critical time window of fetal neurogenesis. This defect is worsened by the fact that neural progenitor cells exhibit reduced acquisition of a neuronal phenotype and an increase in the acquisition of an astrocytic phenotype...
July 26, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28744779/congenital-fiber-type-disproportion-in-an-ambulatory-rehabilitation-setting-a%C3%A2-case-report
#20
Stefano Palma, Mohammad Keilani, Tim Hasenoehrl, Clemens Ambrozy, Sara Dana, Thomas Sycha, Richard Crevenna
Congenital fiber-type disproportion is a rare condition, histologically characterized by a relative type 1 fiber hypotrophy. The main clinical feature is mild-to-severe muscle weakness. In this report, we present the case of a 21-year-old patient with congenital fiber-type disproportion in an outpatient rehabilitative setting to evaluate the feasibility and results of an assessment battery, including bioimpedance analysis (BIA), dynamometry, 3D gait analysis, 6‑min walk test (6MWT), and the timed up and go test (TUG)...
July 25, 2017: Wiener Medizinische Wochenschrift
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