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https://www.readbyqxmd.com/read/28440863/fewdon-mnd-syndrome-finger-extension-weakness-and-downbeat-nystagmus-a-novel-motor-neuron-disorder
#1
Aline Delva, Nimish Thakore, Erik Pioro, Koen Poesen, Rachel Saunders-Pullman, Inge A Meijer, Janet C Rucker, John T Kissel, Philip Van Damme
Introduction Disturbances of eye movements are infrequently encountered in motor neuron diseases or motor neuropathies, and there is no known syndrome that combines progressive muscle weakness with downbeat nystagmus. Methods To describe the core clinical features of a syndrome of motor neuron disease associated with downbeat nystagmus, clinical features were collected from 6 patients. Results All patients had slowly progressive muscle weakness and wasting, in combination with downbeat nystagmus, which was clinically most obvious in downward and lateral gaze...
April 25, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28433659/carbonic-anhydrase-xii-functions-in-health-and-disease
#2
REVIEW
Abdul Waheed, William S Sly
Human CAXII was initially identified as a cancer marker in different cancers and tumors. Expression of CAXII is regulated by hypoxia and estrogen receptors. CAXII expression has been also detected in several tissues, whereas in cancer and tumor tissues its expression is several fold higher. In brain tumors, an alternatively spliced form of CAXII is expressed. Higher expression of CAXII in breast cancer is indicative of lower grade disease. CAXII plays a key role in several physiological functions. Mutation in the CAXII gene causes cystic fibrosis-like syndrome and salt wasting disease...
April 19, 2017: Gene
https://www.readbyqxmd.com/read/28424790/development-of-isothermal-recombinase-polymerase-amplification-assay-for-rapid-detection-of-porcine-circovirus-type-2
#3
Yang Yang, Xiaodong Qin, Yingjun Sun, Guozheng Cong, Yanmin Li, Zhidong Zhang
Porcine circovirus virus type II (PCV2) is the etiology of postweaning multisystemic wasting syndrome (PMWS), porcine dermatitis, nephropathy syndrome (PDNS), and necrotizing pneumonia. Rapid diagnosis tool for detection of PCV2 plays an important role in the disease control and eradication program. Recombinase polymerase amplification (RPA) assays using a real-time fluorescent detection (PCV2 real-time RPA assay) and RPA combined with lateral flow dipstick (PCV2 RPA LFD assay) were developed targeting the PCV2 ORF2 gene...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28411356/mitochondrial-neurogastrointestinal-encephalomyopathy-syndrome-treated-with-stem-cell-transplant-a-case-series-and-literature-review
#4
Amr Hanbali, Walid Rasheed, Musthafa Chalikandy Peedikayil, Saeed Boholega, Hazza A Alzahrani
Mitochondrial neurogastrointestinal encephalomyopathy syndrome is a rare autosomal recessive multisystem disorder caused by nuclear TYMP gene mutations, which leads to deficiency in thymidine phosphorylase enzyme. This deficiency then leads to mitochondrial dysfunction, which causes the features characteristic of this syndrome, including severe muscle wasting, gastrointestinal dysmotility, leukoencephalopathy, peripheral neuropathy, and ophthalmoplegia. Here, we present a case series of 3 patients with mitochondrial neurogastrointestinal encephalomyopathy from Saudi Arabia who underwent allogeneic stem cell transplant at King Faisal Specialist Hospital (Riyadh, Saudi Arabia)...
April 14, 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28396056/connecting-the-metabolic-and-immune-responses-to-cancer
#5
REVIEW
Thomas R Flint, Douglas T Fearon, Tobias Janowitz
Separate research fields have advanced our understanding of, on the one hand, cancer immunology and, on the other hand, cachexia, the fatal tumor-induced wasting syndrome. A link between the host's immune and metabolic responses to cancer remained unexplored. Emerging work in preclinical models of colorectal and pancreatic cancer has unveiled tumor-induced reprogramming of liver metabolism in cachexia that leads to suppression of antitumor immunity and failure of immunotherapy. As research efforts in metabolism and immunology in cancer are rapidly expanding, it is timely to discuss the metabolic and immunological determinants of the cancer-host interaction...
April 7, 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/28393593/a-study-of-hyponatremia-in-acute-encephalitis-syndrome-a-prospective-study-from-a-tertiary-care-center-in-india
#6
Usha Kant Misra, Jayantee Kalita, Rajesh Kumar Singh, Sanjeev Kumar Bhoi
PURPOSE: To evaluate the frequency and causes of hyponatremia in acute encephalitis syndrome (AES) and its effect on outcome. PATIENTS AND METHODS: Consecutive patients with AES were subjected to neurological evaluation including Glasgow Coma Scale, focal weakness, movement disorder, and reflex changes. The etiology of AES was based on blood and cerebrospinal fluid enzyme-linked immunosorbent assay and polymerase chain reaction. We have categorized patients into neurological or systemic AES...
January 1, 2017: Journal of Intensive Care Medicine
https://www.readbyqxmd.com/read/28393216/cancer-induced-cardiac-cachexia-pathogenesis-and-impact-of-physical-activity-review
#7
Yassine Belloum, Françoise Rannou-Bekono, François B Favier
Cachexia is a wasting syndrome observed in many patients suffering from several chronic diseases including cancer. In addition to the progressive loss of skeletal muscle mass, cancer cachexia results in cardiac function impairment. During the severe stage of the disease, patients as well as animals bearing cancer cells display cardiac atrophy. Cardiac energy metabolism is also impeded with disruption of mitochondrial homeostasis and reduced oxidative capacity, although the available data remain equivocal. The release of inflammatory cytokines by tumor is a key mechanism in the initiation of heart failure...
May 2017: Oncology Reports
https://www.readbyqxmd.com/read/28386278/global-status-of-porcine-circovirus-type-2-and-its-associated-diseases-in-sub-saharan-africa
#8
REVIEW
Kayode O Afolabi, Benson C Iweriebor, Anthony I Okoh, Larry C Obi
Globally, Porcine circovirus type 2 (PCV2) is a recognized viral pathogen of great economic value in pig farming. It is the major cause of ravaging postweaning multisystemic wasting syndrome (PMWS) and many other disease syndromes generally regarded as Porcine circovirus associated diseases (PCVAD) in Europe. PCV2 infections, specifically PMWS, had impacted huge economic loss on swine production at different regions of the world. It has been studied and reported at different parts of the globe including: North and South America, Europe, Asia, Oceania, Middle East, and the Caribbean...
2017: Advances in Virology
https://www.readbyqxmd.com/read/28382380/ungulate-copiparvovirus-2-in-healthy-and-postweaning-multisystemic-wasting-syndrome-affected-pigs
#9
Samuel P Cibulski, Thais F Teixeira, Ana Paula M Varela, Camila M Scheffer, Helton F Santos, Francisco E S Lima, Paulo M Roehe
A SYBR Green-based real-time polymerase chain reaction (qPCR) was designed to detect Ungulate copiparvovirus 2, also known as porcine parvovirus 4 (PPV4). The test was applied to search for PPV4 DNAemia in sera from 1- to 4-month-old pigs displaying signs of postweaning multisystemic wasting syndrome (PMWS), as well as in sera from healthy swine at equivalent age and in sera from older healthy animals (>6 months old). High levels of PPV4 DNA were detected in PMWS-affected pigs. The mean viral DNA load in PMWS-affected pigs was 5...
April 5, 2017: Tropical Animal Health and Production
https://www.readbyqxmd.com/read/28380045/haste-makes-waste-decision-making-in-patients-with-restless-legs-syndrome-with-and-without-augmentation
#10
Beatrice Heim, Marie-Theres Pertl, Ambra Stefani, Margarete Delazer, Anna Heidbreder, Laura Zamarian, Elisabeth Brandauer, Klaus Seppi, Birgit Högl, Werner Poewe, Atbin Djamshidian
OBJECTIVES: To investigate decision making in patients with primary restless legs syndrome (RLS) with and without augmentation treated with dopaminergic medication. METHODS: A total of 64 non-demented RLS patients treated with dopaminergic medication with and without augmentation were included in this study. We used an information sampling task to assess how much evidence participants gather before making a decision. Performance was compared to the results of 21 healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28377801/current-best-practice-in-the-management-of-patients-after-pituitary-surgery
#11
REVIEW
Alessandro Prete, Salvatore Maria Corsello, Roberto Salvatori
Sellar and parasellar masses are a common finding, and most of them are treated surgically via transsphenoidal approach. This type of surgery has revolutionized the approach to several hypothalamic-pituitary diseases and is usually effective, and well-tolerated by the patient. However, given the complex anatomy and high density of glandular, neurological and vascular structures in a confined space, transsphenoidal surgery harbors a substantial risk of complications. Hypopituitarism is one of the most frequent sequelae, with central adrenal insufficiency being the deficit that requires a timely diagnosis and treatment...
March 2017: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28377333/prenatal-diagnosis-of-bartter-syndrome-amniotic-fluid-aldosterone
#12
Myriam Rachid, Sophie Dreux, Gauthier Pean de Ponfilly, Rosa Vargas-Poussou, Isabelle Czerkiewicz, Didier Chevenne, Jean-François Oury, Georges Deschênes, Françoise Muller
Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of postnatally diagnosed Bartter syndrome and 144 controls matched for gestational age...
April 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28367954/bioenergetic-impairment-in-congenital-muscular-dystrophy-type-1a-and-leigh-syndrome-muscle-cells
#13
Cibely C Fontes-Oliveira, Maarten Steinz, Peter Schneiderat, Hindrik Mulder, Madeleine Durbeej
Skeletal muscle has high energy requirement and alterations in metabolism are associated with pathological conditions causing muscle wasting and impaired regeneration. Congenital muscular dystrophy type 1A (MDC1A) is a severe muscle disorder caused by mutations in the LAMA2 gene. Leigh syndrome (LS) is a neurometabolic disease caused by mutations in genes related to mitochondrial function. Skeletal muscle is severely affected in both diseases and a common feature is muscle weakness that leads to hypotonia and respiratory problems...
April 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28357683/targeting-frailty-in-heart-failure
#14
REVIEW
Susan M Joseph, Michael W Rich
Frailty is a systemic syndrome characterized by impaired physiologic reserve, slowness, weakness, and wasting. It is associated with, but distinct from, aging, disability, and multimorbidity. Frailty is extremely common in patients with heart failure and portends a worse prognosis. The two syndromes worsen one another via complex molecular and cellular mechanisms which are not fully understood but include increased levels of stress hormones and cytokines. In this article, we discuss the mechanisms of frailty and review common frailty metrics...
April 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28347910/acute-lung-injury-complicating-acute-kidney-injury-a-model-of-endogenous-%C3%AE-klotho-deficiency-and-distant-organ-dysfunction
#15
REVIEW
Connie C W Hsia, Priya Ravikumar, Jianfeng Ye
The lung interfaces with atmospheric oxygen via a large surface area and is perfused by the entire venous return bearing waste products collected from the entire body. It is logical that the lung is endowed with generous anti-oxidative capacity derived both locally and from the circulation. The single-pass pleiotropic alpha-Klotho (αKlotho) protein was discovered when its genetic disruption led to premature multi-organ degeneration and early death. The extracellular domain of αKlotho is cleaved by secretases and released into circulation as endocrine soluble αKlotho protein and exerting wide-ranging cytoprotective effects including anti-oxidation on distant organs especially the lung, which exhibits high sensitivity to circulating αKlotho insufficiency...
March 24, 2017: Bone
https://www.readbyqxmd.com/read/28333214/-forever-young-%C3%A2-testosterone-replacement-therapy-a-blockbuster-drug-despite-flabby-evidence-and-broken-promises
#16
Andrea Busnelli, Edgardo Somigliana, Paolo Vercellini
In the last decade, testosterone replacement therapy (TRT) has been increasingly prescribed to treat a controversial condition known as 'late-onset hypogonadism (LOH)'. This syndrome is diagnosed in men who, for no discernible reason other than older age, obesity or ill health have serum testosterone concentrations below the normal range for healthy young men and report one or more of the following symptoms: muscle weakness or wasting, mood, behaviour and cognition-related symptoms and sexual function or libido impairment...
April 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28330812/molecular-evidence-for-differential-long-term-outcomes-of-early-life-severe-acute-malnutrition
#17
Allan Sheppard, Sherry Ngo, Xiaoling Li, Michael Boyne, Debbie Thompson, Anthony Pleasants, Peter Gluckman, Terrence Forrester
BACKGROUND: Severe acute malnutrition (SAM) in infants may present as one of two distinct syndromic forms: non-edematous (marasmus), with severe wasting and no nutritional edema; or edematous (kwashiorkor) with moderately severe wasting. These differences may be related to developmental changes prior to the exposure to SAM and phenotypic changes appear to persist into adulthood with differences between the two groups. We examined whether the different response to SAM and subsequent trajectories may be explained by developmentally-induced epigenetic differences...
March 8, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28321069/cerebral-salt-wasting-syndrome-and-inappropriate-antidiuretic-hormone-syndrome-after-subarachnoid-hemorrhaging
#18
Hanako Nakajima, Hiroshi Okada, Kazuki Hirose, Toru Murakami, Yayoi Shiotsu, Mayuko Kadono, Mamoru Inoue, Goji Hasegawa
Hyponatremia is a common finding after subarachnoid hemorrhaging (SAH) and can be caused by either cerebral salt-wasting syndrome (CSWS) or syndrome of inappropriate antidiuretic hormone (SIADH). Distinguishing between these two entities can be difficult because they have similar manifestations, including hyponatremia, serum hypo-osmolality, and high urine osmolality. We herein report the case of a 60-year-old man who suffered from SAH complicated by hyponatremia. During his initial hospitalization, he was diagnosed with CSWS...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28318518/-returning-to-work-after-an-acute-coronary-syndrome-when-waiting-is-wasting
#19
F Latil, M C Iliou, C Boileau, J X Pietri, C Lechien, P Ha-Vinh, C Guimond
BACKGROUND: Return to work (RTW) after acute coronary syndrome (ACS) is an important issue for the patient's future. AIMS: The study aim was to determine whether RTW practice complies with guidelines or is delayed by failure in patient management. We analysed the factors influencing RTW beyond the 90-day period recommended by guidelines. METHODS: We conducted a survey of 216 self-employed workers admitted to the hospital for ACS using self-report questionnaires and medical examination...
April 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/28316939/application-of-established-pathophysiologic-processes-brings-greater-clarity-to-diagnosis-and-treatment-of-hyponatremia
#20
EDITORIAL
John K Maesaka, Louis J Imbriano, Nobuyuki Miyawaki
Hyponatremia, serum sodium < 135 mEq/L, is the most common electrolyte abnormality and is in a state of flux. Hyponatremic patients are symptomatic and should be treated but our inability to consistently determine the causes of hyponatremia has hampered the delivery of appropriate therapy. This is especially applicable to differentiating syndrome of inappropriate antidiuresis (SIAD) from cerebral salt wasting (CSW) or more appropriately, renal salt wasting (RSW), because of divergent therapeutic goals, to water-restrict in SIAD and administer salt and water in RSW...
March 6, 2017: World Journal of Nephrology
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