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https://www.readbyqxmd.com/read/28727166/hepatocytes-contribute-to-residual-glucose-production-in-a-mouse-model-for-glycogen-storage-disease-type-ia
#1
Brenda S Hijmans, Andreas Boss, Theo H van Dijk, Maud Soty, Henk Wolters, Elodie Mutel, Albert K Groen, Terry G J Derks, Gilles Mithieux, Arend Heerschap, Dirk-Jan Reijngoud, Fabienne Rajas, Maaike H Oosterveer
It is a longstanding enigma how glycogen storage disease (GSD) type I patients retain a limited capacity for endogenous glucose production (EGP) despite the loss of glucose-6-phosphatase (G6Pase) activity. Insight into the source of residual EGP is of clinical importance given the risk of sudden death in these patients, but so far contradictory mechanisms have been proposed. We investigated G6Pase-independent EGP in hepatocytes isolated from a liver-specific GSD Ia mouse model (L-G6pc(-/-) mice), and performed real-time analysis of hepatic glucose fluxes and glycogen metabolism in L-G6pc(-/-) mice using state-of-the-art stable isotope methodologies...
July 20, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28717668/different-renal-phenotypes-in-related-adult-males-with-fabry-disease-with-the-same-classic-genotype
#2
Renzo Mignani, Mariarita Moschella, Giovanna Cenacchi, Ilaria Donati, Marta Flachi, Daniela Grimaldi, Davide Cerretani, Paola De Giovanni, Marcello Montevecchi, Angelo Rigotti, Alessandro Ravasio
BACKGROUND: Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. METHODS: A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia. RESULTS: The DBS revealed absent leukocyte α-Gal A enzyme activity while DNA analysis identified the I354K mutation. Serum creatinine and e-GFR were in normal range and also albuminuria and proteinuria were absent...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28701321/pituitary-adenylate-cyclase-activating-polypeptide-pacap-drives-cardiorespiratory-responses-to-heat-stress-in-neonatal-mice
#3
Karlene T Barrett, John Andrew Daubenspeck, Richard J A Wilson
The neuropeptide, pituitary adenylate cyclase-activating polypeptide (PACAP), has emerged as a principal and rate-limiting regulator of physiological stress responses in adult rodents and has been implicated in SIDS (Sudden Infant Death Syndrome). Recent studies show that PACAP plays a role in neonatal cardiorespiratory responses to hypoxia, hypercapnia and hypothermia, but not hyperthermia, which is often associated with SIDS. Here we tested the hypothesis that, consistent with a role in SIDS, PACAP is involved in regulating the neonatal cardiorespiratory responses to severe heat...
July 12, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/28701309/arhgap18-protects-against-thoracic-aortic-aneurysm-formation-by-mitigating-the-synthetic-and-pro-inflammatory-smooth-muscle-cell-phenotype
#4
Renjing Liu, Lisa Lo, Angelina J Lay, Yang Zhao, Ka Ka Ting, Elizabeth N Robertson, Andrew G Sherrah, Sorour R Jarrah, Haibo Li, Zhaoxiong Zhou, Brett D Hambly, David R Richmond, Richmond W Jeremy, Paul G Bannon, Matthew A Vadas, Jennifer Gamble
Rationale: Thoracic aortic aneurysm (TAA) is a potentially lethal condition which can affect individuals of all ages. TAA may be complicated by the sudden onset of life threatening dissection or rupture. The underlying mechanisms leading to TAA formation, particularly in the non-syndromal idiopathic group of patients, are not well understood. Thus, identification of new genes and targets that are involved in TAA pathogenesis are required to help prevent and/or reverse the disease phenotype. Objective: Here we explore the role of ARHGAP18, a novel Rho GAP expressed by smooth muscle cells (SMC), in the pathogenesis of TAA...
July 12, 2017: Circulation Research
https://www.readbyqxmd.com/read/28682904/sudden-bilateral-vision-loss-as-the-sole-manifestation-of-posterior-reversible-encephalopathy-syndrome-from-acute-uremia-clinical-case-report
#5
Hye-Young Shin, So Hee Kim, Mee Yon Lee, Sun Ae Yoon, Su Young Kim, Young Chun Lee
RATIONALE: Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological entity associated with vasogenic edema. Symptoms may include headache, seizures, altered mental status, and visual impairment. Patients with PRES generally present with neurological deficits. PATIENT CONCERNS: Here, we report an unusual case of a 42-year-old man who presented with sudden bilateral vision loss without any other neurologic symptoms. DIAGNOSES: He was diagnosed with PRES secondary to acute uremia...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28665178/xanthogranulomatous-colloid-cyst-of-the-third-ventricle-alter-your-surgical-strategy
#6
Ganesh Swaminathan, Gandham E Jonathan, Bimal Patel, Krishna Prabhu
Colloid cysts are the most common benign neoplasms of the anterior third ventricle, mostly located at the level of the foramen of Monro and can often manifest as sudden onset headache or loss of consciousness. These cysts often have a well-defined cyst wall, mucinous or watery intracystic fluid and have a fairly good plane with the surrounding parenchyma. Occasionally, intracystic haemorrhage can lead to xanthogranulomatous inflammatory changes within the cyst resulting in focal thickening of the cyst wall and adhesion to the surrounding structures...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28593511/de-novo-exonic-duplication-of-atp1a2-in-italian-patient-with-hemiplegic-migraine-a-case-report
#7
Stella Gagliardi, Gaetano Salvatore Grieco, Francesca Gualandi, Luisa Maria Caniatti, Elisabetta Groppo, Marialuisa Valente, Giuseppe Nappi, Marcella Neri, Cristina Cereda
BACKGROUND: Sporadic Hemiplegic Migraine is a rare form of migraine headache. Mutations in three different genes, two ion-channel genes and one encoding an ATP exchanger, CACNA1A, ATP1A2 and SCN1A are all responsible for the FHM phenotype, thus indicating a genetic heterogeneity for this disorder. Here, we described a de novo exonic duplication of ATP1A2 in an Italian patient with Hemiplegic Migraine. CASE PRESENTATION: We describe the case of a young woman (33 year old) who suffered from the age of 8 years of episodic weakness of the limbs, associated to other subjective and objective features...
December 2017: Journal of Headache and Pain
https://www.readbyqxmd.com/read/28578424/aminophylline-restores-glucocorticoid-sensitivity-in-a-guinea-pig-model-of-sudden-sensorineural-hearing-loss-induced-by-lipopolysaccharide
#8
Qiong-Qiong Zhou, Yan-Hong Dai, Xiao-Ping Du, Jie Hou, Hui Qi, Wan-Dong She
Glucocorticoids have been used to treat hearing loss and vestibular dysfunction for many years. However, some reports have indicated that a subset of patients with these disorders exhibit glucocorticoid insensitivity or resistance. A reduction in histone deacetylase 2 (HDAC2) activity and expression has been reported to play a critical role in glucocorticoid resistance. Here, we investigated the protective effects of aminophylline on HDAC2 expression and glucocorticoid sensitivity in lipopolysaccharide (LPS)-induced sudden sensorineural hearing loss in guinea pigs...
June 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28571193/recurrent-longitudinally-extensive-myelitis-and-aquaporin-4-seronegativity-the-expanding-spectrum-of-neuromyelitis-optica
#9
Ravi Anadure, Coimbatore Sivasubramanian Narayanan, Govindaraj Varadraj
Neuromyelitis Optica Spectrum Disorder (NMOSD) is a recently proposed unifying term for Neuromyelitis Optica (NMO), also known as Devic's disease and related syndromes. It is a relapsing inflammatory demyelinating disease that most commonly affects optic nerves and the spinal cord, leading to sudden vision loss or weakness in one or both eyes, and loss of sensation and bladder function. Though inflammation may also involve the brain, the lesions seen in NMO are different from Multiple Sclerosis (MS) which has a similar clinical course...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28492255/asia-s-glaciers-are-a-regionally-important-buffer-against-drought
#10
Hamish D Pritchard
The high mountains of Asia-encompassing the Himalayas, the Hindu Kush, Karakoram, Pamir Alai, Kunlun Shan, and Tian Shan mountains-have the highest concentration of glaciers globally, and 800 million people depend in part on meltwater from them. Water stress makes this region vulnerable economically and socially to drought, but glaciers are a uniquely drought-resilient source of water. Here I show that these glaciers provide summer meltwater to rivers and aquifers that is sufficient for the basic needs of 136 million people, or most of the annual municipal and industrial needs of Pakistan, Tajikistan, Turkmenistan, Uzbekistan and Kyrgyzstan...
May 10, 2017: Nature
https://www.readbyqxmd.com/read/28405476/bilateral-retinitis-following-typhoid-fever
#11
M Prabhushanker, Tasneem T Topiwalla, Geetha Ganesan, Sripal Appandaraj
BACKGROUND: Post typhoid fever immune related reactions affecting the eye is a rare finding which can have various presentations in which typhoid retinopathy is not a well recognized sequelae. CASE PRESENTATION: Here we present a case of 59 year old male who presented with right eye sudden painless loss of vision 4 weeks after typhoid fever which was diagnosed and treated successfully. His BCVA was 2/60 in right eye and 6/6 in left eye. Fundus examination showed retinitis along with macular serous detachment in right eye and retinitis in left eye...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/28351997/mitochondrial-protein-fus1-tusc2-in-premature-aging-and-age-related-pathologies-critical-roles-of-calcium-and-energy-homeostasis
#12
Roman Uzhachenko, Kelli Boyd, Danyvid Olivares-Villagomez, Yueming Zhu, J Shawn Goodwin, Tanu Rana, Anil Shanker, Winston J T Tan, Tanya Bondar, Ruslan Medzhitov, Alla V Ivanova
Decreased energy production and increased oxidative stress are considered to be major contributors to aging and aging-associated pathologies. The role of mitochondrial calcium homeostasis has also been highlighted as an important factor affecting different pathological conditions. Here, we present evidence that loss of a small mitochondrial protein Fus1 that maintains mitochondrial homeostasis results in premature aging, aging-associated pathologies, and decreased survival. We showed that Fus1KO mice develop multiple early aging signs including lordokyphosis, lack of vigor, inability to accumulate fat, reduced ability to tolerate stress, and premature death...
March 26, 2017: Aging
https://www.readbyqxmd.com/read/28290797/-the-brugada-syndrome-in-a-teenager
#13
I M Miklashevich, E V Kuleshova, S A Termosesov, M A Shkolnikova
The Brugada syndrome (BS) belongs to the group of hereditary channelopathies associated with elevated risk of sudden death (SD) in the absence of structural heart diseases. The disorder phenotypically manifests by specific electrocardiographic pattern, associated with ventricular tachycardia (VT). VT can be accompanied by loss of conscience, and after transformation to ventricular fibrillation result in SD. BS is extremely rare among children and adolescents. We present here a clinical case of teenager (age 17 years) with BS manifested by syncopal state at the background of fever...
February 2017: Kardiologiia
https://www.readbyqxmd.com/read/28277038/has-growth-mixture-modeling-improved-our-understanding-of-how-early-change-predicts-psychotherapy-outcome
#14
Andrew Koffmann
OBJECTIVE: Early change in psychotherapy predicts outcome. Seven studies have used growth mixture modeling [GMM; Muthén, B. (2001). Second-generation structural equation modeling with a combination of categorical and continuous latent variables: New opportunities for latent class-latent growth modeling. In L. M. Collins & A. G. Sawyers (Eds.), New methods for the analysis of change (pp. 291-322). Washington, DC: American Psychological Association] to identify patient classes based on early change but have yielded conflicting results...
March 2, 2017: Psychotherapy Research: Journal of the Society for Psychotherapy Research
https://www.readbyqxmd.com/read/28272467/meta-analysis-identifies-novel-risk-loci-and-yields-systematic-insights-into-the-biology-of-male-pattern-baldness
#15
Stefanie Heilmann-Heimbach, Christine Herold, Lara M Hochfeld, Axel M Hillmer, Dale R Nyholt, Julian Hecker, Asif Javed, Elaine G Y Chew, Sonali Pechlivanis, Dmitriy Drichel, Xiu Ting Heng, Ricardo C-H Del Rosario, Heide L Fier, Ralf Paus, Rico Rueedi, Tessel E Galesloot, Susanne Moebus, Thomas Anhalt, Shyam Prabhakar, Rui Li, Stavroula Kanoni, George Papanikolaou, Zoltán Kutalik, Panos Deloukas, Michael P Philpott, Gérard Waeber, Tim D Spector, Peter Vollenweider, Lambertus A L M Kiemeney, George Dedoussis, J Brent Richards, Michael Nothnagel, Nicholas G Martin, Tim Becker, David A Hinds, Markus M Nöthen
Male-pattern baldness (MPB) is a common and highly heritable trait characterized by androgen-dependent, progressive hair loss from the scalp. Here, we carry out the largest GWAS meta-analysis of MPB to date, comprising 10,846 early-onset cases and 11,672 controls from eight independent cohorts. We identify 63 MPB-associated loci (P<5 × 10(-8), METAL) of which 23 have not been reported previously. The 63 loci explain ∼39% of the phenotypic variance in MPB and highlight several plausible candidate genes (FGF5, IRF4, DKK2) and pathways (melatonin signalling, adipogenesis) that are likely to be implicated in the key-pathophysiological features of MPB and may represent promising targets for the development of novel therapeutic options...
March 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/28097232/vps34-regulates-myofibril-proteostasis-to-prevent-hypertrophic-cardiomyopathy
#16
Hirotaka Kimura, Satoshi Eguchi, Junko Sasaki, Keiji Kuba, Hiroki Nakanishi, Shunsuke Takasuga, Masakazu Yamazaki, Akiteru Goto, Hiroyuki Watanabe, Hiroshi Itoh, Yumiko Imai, Akira Suzuki, Noboru Mizushima, Takehiko Sasaki
Hypertrophic cardiomyopathy (HCM) is a common heart disease with a prevalence of 1 in 500 in the general population. Several mutations in genes encoding cardiac proteins have been found in HCM patients, but these changes do not predict occurrence or prognosis and the molecular mechanisms underlying HCM remain largely elusive. Here we show that cardiac expression of vacuolar protein sorting 34 (Vps34) is reduced in a subset of HCM patients. In a mouse model, muscle-specific loss of Vps34 led to HCM-like manifestations and sudden death...
January 12, 2017: JCI Insight
https://www.readbyqxmd.com/read/28051127/population-cycles-and-species-diversity-in-dynamic-kill-the-winner-model-of-microbial-ecosystems
#17
Sergei Maslov, Kim Sneppen
Determinants of species diversity in microbial ecosystems remain poorly understood. Bacteriophages are believed to increase the diversity by the virtue of Kill-the-Winner infection bias preventing the fastest growing organism from taking over the community. Phage-bacterial ecosystems are traditionally described in terms of the static equilibrium state of Lotka-Volterra equations in which bacterial growth is exactly balanced by losses due to phage predation. Here we consider a more dynamic scenario in which phage infections give rise to abrupt and severe collapses of bacterial populations whenever they become sufficiently large...
January 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28024876/neuronal-ceroid-lipofuscinosis-ncl-is-caused-by-the-entire-deletion-of-cln8-in-the-alpenl%C3%A3-ndische-dachsbracke-dog
#18
M Hirz, M Drögemüller, A Schänzer, V Jagannathan, E Dietschi, H H Goebel, W Hecht, S Laubner, M J Schmidt, F Steffen, M Hilbe, K Köhler, C Drögemüller, C Herden
Neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage diseases that have been described in a variety of dog breeds, where they are caused by different mutations in different genes. However, the causative gene defect in the breed Alpenländische Dachsbracke remained unknown so far. Here we present two confirmed cases of NCL in Alpenländische Dachsbracke dogs from different litters of the same sire with a different dam harboring the same underlying novel mutation in the CLN8 gene. Case 1, a 2-year-old male Alpenländische Dachsbracke was presented with neurological signs including disorientation, character changes including anxiety states and aggressiveness, sudden blindness and reduction of food intake...
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27976566/ceftriaxone-induced-hemolytic-anemia-in-a-child-successfully-managed-with-intravenous-immunoglobulin
#19
Aysel Vehapoğlu, Nilüfer Göknar, Rümeysa Tuna, Fatma Betül Çakır
Drug-induced hemolytic anemia is an immune-mediated phenomenon that leads to the destruction of red blood cells. Here, we present a case of life-threatening ceftriaxone-induced hemolytic anemia (CIHA) in a previously healthy 3-year-old girl. We also reviewed the literature to summarize the clinical features and treatment of hemolytic anemia. Acute hemolysis is a rare side effect of ceftriaxone therapy associated with high mortality. Our patient had a sudden loss of consciousness with macroscopic hematuria and her hemoglobin dropped from 10...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27911776/evaluating-early-warning-indicators-of-critical-transitions-in-natural-aquatic-ecosystems
#20
Alena Sonia Gsell, Ulrike Scharfenberger, Deniz Özkundakci, Annika Walters, Lars-Anders Hansson, Annette B G Janssen, Peeter Nõges, Philip C Reid, Daniel E Schindler, Ellen Van Donk, Vasilis Dakos, Rita Adrian
Ecosystems can show sudden and persistent changes in state despite only incremental changes in drivers. Such critical transitions are difficult to predict, because the state of the system often shows little change before the transition. Early-warning indicators (EWIs) are hypothesized to signal the loss of system resilience and have been shown to precede critical transitions in theoretical models, paleo-climate time series, and in laboratory as well as whole lake experiments. The generalizability of EWIs for detecting critical transitions in empirical time series of natural aquatic ecosystems remains largely untested, however...
December 13, 2016: Proceedings of the National Academy of Sciences of the United States of America
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