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https://www.readbyqxmd.com/read/29673582/in-silico-prediction-of-the-pathogenic-effect-of-a-novel-variant-of-bckdha-leading-to-classical-maple-syrup-urine-disease-identified-using-clinical-exome-sequencing
#1
Cynthia Fernández-Lainez, Carmen Aláez-Verson, Isabel Ibarra-González, Sergio Enríquez-Flores, Karol Carrillo-Sanchez, Leonardo Flores-Lagunes, Sara Guillén-López, Leticia Belmont-Martínez, Marcela Vela-Amieva
Maple syrup urine disease (MSUD) is a metabolic disorder caused by mutations in three of the branched-chain α-keto acid dehydrogenase complex (BCKDC) genes. Classical MSUD symptom can be observed immediately after birth and include ketoacidosis, irritability, lethargy, and coma, which can lead to death or irreversible neurodevelopmental delay in survivors. The molecular diagnosis of MSUD can be time-consuming and difficult to establish using conventional Sanger sequencing because it could be due to pathogenic variants of any of the BCKDC genes...
April 16, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29669120/neuronal-lethargy-neurons-slow-down-with-extended-wakefulness
#2
Bornali Kundu, John D Rolston
No abstract text is available yet for this article.
May 1, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29667726/interventions-for-infantile-haemangiomas-of-the-skin
#3
REVIEW
Monica Novoa, Eulalia Baselga, Sandra Beltran, Lucia Giraldo, Ali Shahbaz, Hector Pardo-Hernandez, Ingrid Arevalo-Rodriguez
BACKGROUND: Infantile haemangiomas (previously known as strawberry birthmarks) are soft, raised swellings of the skin that occur in 3% to 10% of infants. These benign vascular tumours are usually uncomplicated and tend to regress spontaneously. However, when haemangiomas occur in high-risk areas, such as near the eyes, throat, or nose, impairing their function, or when complications develop, intervention may be necessary. This is an update of a Cochrane Review first published in 2011...
April 18, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29666081/mantle-cell-lymphoma-presenting-as-bilateral-adrenal-huge-masses
#4
Abtin Doroudinia, Mehrdad Bakhshayesh Karam, Mostafa Ranjbar, Arash Nikmanesh, Payam Mehrian
We present a middle-aged woman complaining of weakness, lethargy and weight loss for 6 months. Positron emission tomography (PET)/CT scan revealed huge bilateral adrenal masses with intense 18F-fluorodeoxyglucose avidity. Biopsy and immunohistochemical staining were compatible with mantle cell lymphoma (MCL). The patient received six cycles of rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone (R-CHOP) followed by four cycles of intrathechal methotrexate chemotherapy. Bone marrow aspiration biopsy was performed for initial staging and also before bone marrow transplantation...
April 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29662726/chronic-debilitating-headache-in-adults-caused-by-craniocerebral-disproportion-treatment-by-cranial-vault-expansion
#5
Ken R Winston, Brooke French, Jason Bunn
Craniocerebral disproportion is rarely considered as a cause for chronic, debilitating headache in adults. Children reported with this disorder typically suffer from headaches and lethargy for many years and have multisutural synostosis. The terms craniocerebral disproportion, craniostenosis, and slit-ventricle syndrome are used inconsistently as diagnostic designations. Three adults with craniocerebral disproportion who had been treated in infancy for two different pathologies are reported. All benefited greatly from cranial vault expansion...
February 13, 2018: Curēus
https://www.readbyqxmd.com/read/29659460/clozapine-titration-for-people-in-early-psychosis-a-chart-review-and-treatment-guideline
#6
Jacob S Ballon, Hera Ashfaq, Douglas L Noordsy
PURPOSE/BACKGROUND: The use of clozapine, particularly in young people, is often limited by early treatment-emergent adverse effects including drowsiness and lethargy. Concerns about adverse effects, medication adherence, and the need for blood monitoring often impede the use of clozapine in this population, leading to repeated trials of less effective medications. Current clozapine dosing recommendations are based on people further in the course of their illness and thus reflect different responsiveness and sensitivities to antipsychotic medication...
June 2018: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/29657007/update-on-flea-and-tick-associated-diseases-of-cats
#7
Michael R Lappin
There are multiple vector-borne diseases in cats, the most prominent being those transmitted by mosquitos, sand flies, fleas, and ticks. Many of the agents vectored by fleas or ticks have been grown or amplified from blood or have induced antibodies in the serum of normal cats or those with clinical signs like fever and will be the focus of this manuscript. As high as 80% of fleas collected from cats contain at least one organism that could induce illness in cats or people. Anaplasma phagocytophilum, Bartonella spp...
April 30, 2018: Veterinary Parasitology
https://www.readbyqxmd.com/read/29655685/polygonum-aviculare-l-extract-reduces-fatigue-by-inhibiting-neuroinflammation-in-restraint-stressed-mice
#8
Sun Haeng Park, Seol Jang, Eunjung Son, Si Woo Lee, Sun Dong Park, Yoon-Young Sung, Ho Kyoung Kim
BACKGROUND: Chronic fatigue patients experience various neuropsychological symptoms, including fatigue behaviors, chronic pain, and depression. They also display immune system dysregulation. Polygonum aviculare L. extract (PAE) is a traditional herbal medicine used to treat inflammatory diseases by reportedly decreasing pro-inflammatory cytokine production. HYPOTHESIS/PURPOSE: We hypothesized that the anti-inflammatory properties of PAE would attenuate fatigue symptoms in a mouse model of restraint stress...
March 15, 2018: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/29626656/equine-granulocytic-anaplasmosis-28-years-later
#9
REVIEW
Sehrish Saleem, Muhammad Ijaz, Shahid Hussain Farooqi, Awais Ghaffar, Ahmad Ali, Kashif Iqbal, Khalid Mehmood, Hui Zhang
Equine granulocytic anaplasmosis (EGA) is an important tick borne disease of equines that is caused by Anaplasma phagocytophilum (A. phagocytophilum). The etiological agent has veterinary as well as public health importance because of its zoonotic nature. A. phagocytophilum causes an acute illness in equines with loss of appetite, lethargy, hemorrhages and lameness. Clinically, EGA is diagnosed upon examination of morulae within neutrophils especially granulocytes in the blood. The best diagnostic tool for the detection of EGA is Polymerase chain reaction (PCR)...
April 4, 2018: Microbial Pathogenesis
https://www.readbyqxmd.com/read/29606731/estrogen-induced-myelotoxicity-in-a-4-year-old-golden-retriever-dog-due-to-a-sertoli-cell-tumor
#10
Hayden Marshall
A 4-year-old, unilateral cryptorchid golden retriever dog was presented to the Ontario Veterinary College Health Sciences Centre with gynecomastia, dribbling urine, lethargy, neutropenia, and thrombocytopenia. A Sertoli cell tumor was diagnosed in a cryptorchid testicle with estrogen-induced myelotoxicity. The tumor was removed and bone marrow regenerated within 4 months.
April 2018: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
https://www.readbyqxmd.com/read/29599561/concomitant-feline-immunodeficiency-virus-fiv-and-mycoplasma-haemofelis-in-a-barn-cat
#11
Alejandra Ceballos-Vasquez
A 5-year-old male barn cat was presented with lethargy and excessive bleeding following castration. The patient developed hemolytic anemia and diagnostic tests revealed infection with feline immunodeficiency virus and Mycoplasma haemofelis. This case serves as a reminder of the importance of testing for infectious diseases and educating owners on feline infectious disease prevention and management.
March 2018: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
https://www.readbyqxmd.com/read/29597274/human-mitochondrial-hmg-coa-synthase-deficiency-role-of-enzyme-dimerization-surface-and-characterization-of-three-new-patients
#12
Beatriz Puisac, Iñigo Marcos-Alcalde, María Hernández-Marcos, Pilar Tobajas Morlana, Alina Levtova, Bernd C Schwahn, Corinne DeLaet, Baiba Lace, Paulino Gómez-Puertas, Juan Pié
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (mitochondrial HMG-CoA synthase deficiency or mHS deficiency, OMIM #605911) is an inborn error of metabolism that affects ketone body synthesis. Acute episodes include vomiting, lethargy, hepatomegaly, hypoglycemia and dicarboxylic aciduria. The diagnosis is difficult due to the relatively unspecific clinical and biochemical presentation, and fewer than 30 patients have been described. This work describes three new patients with mHS deficiency and two missense mutations c...
March 28, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29595398/outcome-of-elective-cholecystectomy-for-the-treatment-of-gallbladder-disease-in-dogs
#13
Gabina Youn, Michelle J Waschak, Kevin A R Kunkel, Patrick D Gerard
OBJECTIVE To determine mortality rates for dogs undergoing cholecystectomy and variables associated with failure to survive to hospital discharge. DESIGN Retrospective cohort study. ANIMALS 70 dogs that underwent cholecystectomy for biliary tract disease at a companion animal referral hospital from 2009 through 2015. PROCEDURES Medical records of dogs were reviewed and data collected; dogs with biliary diversion surgery were excluded. Included dogs were grouped by whether cholecystectomy had been elective (ie, dogs with no or mild clinical signs, with no indication of biliary obstruction, or that initially underwent surgery for a different procedure) or nonelective (ie, dogs with icterus and questionable patency of the biliary system)...
April 15, 2018: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/29588906/complications-of-extended-endoscopic-endonasal-surgery-in-elderly-patients
#14
Tyler J Kenning, Carlos D Pinheiro-Neto
Extended endoscopic endonasal procedures are not unique among surgical interventions in carrying increased risk in the elderly population. There are, however, components of the procedure, namely high-flow cerebrospinal fluid leaks, that do result in the potential for increased perioperative morbidity for these patients. We present the case of a 77-year-old male with a large invasive pituitary macroadenoma resected through a transplanum-transtuberculum-transsellar endonasal approach. A gross total resection was obtained with resolution of the patient's preoperative ophthalmologic deficits...
April 2018: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/29587842/experimental-infection-of-pigs-with-h1-and-h3-influenza-a-viruses-of-swine-by-using-intranasal-nebulization
#15
Nobuhiro Takemae, Ryota Tsunekuni, Yuko Uchida, Toshihiro Ito, Takehiko Saito
BACKGROUND: Experimental infection of pigs via direct intranasal or intratracheal inoculation has been mainly used to study the infectious process of influenza A viruses of swine (IAVs-S). Nebulization is known to be an alternative method for inoculating pigs with IAVs-S, because larger quantities of virus potentially can be delivered throughout the respiratory tract. However, there is very little data on the experimental infection of pigs by inhalation using nebulizer. In the current study, we used intranasal nebulization to inoculate pigs with 9 different IAVs-S-3 H1N1, 2 H1N2, and 4 H3N2 strains...
March 27, 2018: BMC Veterinary Research
https://www.readbyqxmd.com/read/29575136/diagnosis-of-pneumocystis-pneumonia-in-a-2-year-old-king-charles-cavalier-spaniel-using-the-polymerase-chain-reaction
#16
Ayeley A K Okine, Seth Chapman, Roger A Hostutler, Robert Livingston
A 2-year-old, female spayed, King Charles Cavalier Spaniel was presented for evaluation of dyspnea, inappetence, and lethargy. Thoracic radiographs revealed a moderate diffuse interstitial lung pattern affecting the perihilar and caudodorsal lung fields, and an echocardiogram revealed severe pulmonary hypertension. A bronchoalveolar lavage (BAL) was performed, and cytology revealed mixed inflammation with cysts and trophozoites consistent with Pneumocystis. Pneumocystis infection was later confirmed with PCR...
March 2018: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/29572123/clinical-and-electrocardiographic-presentations-of-transient-trifascicular-block-in-three-cats
#17
Eva M Oxford, Flavia B Giacomazzi, N Sydney Moïse, Roberto A Santilli
This report describes transient trifascicular block in three cats presented with lethargy and inappetence, and elevated cardiac troponin I concentrations. The electrocardiogram (ECG) of cat 1 showed a sinus rhythm with pronounced first-degree atrioventricular (AV) block, right bundle branch block, and left anterior fascicular block. The ECG of cat 2 showed truncular left bundle branch block alternating with left anterior fascicular block coupled with prolonged PR intervals, second-degree heart block, and paroxysmal third-degree AV block...
March 20, 2018: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/29568539/low-level-of-knowledge-about-neonatal-danger-signs-and-its-associated-factors-among-postnatal-mothers-attending-at-woldia-general-hospital-ethiopia
#18
Mekdes Mengesha Jemberia, Elsa Tesfa Berhe, Hawi Bersisa Mirkena, Destaw Molla Gishen, Abera Endale Tegegne, Melese Abate Reta
Background: Neonatal mortality has persisted high in Ethiopia in spite of many efforts being applied to decrease this adverse trend. Early detection of neonatal illness is an important step towards improving newborn survival. Toward this end, there is a need for the mothers to be able to identify signs in neonates that signify severe illnesses. The aim of this study was to assess knowledge about neonatal danger signs and its associated factors among postnatal mothers attending at Woldia general hospital, Ethiopian...
2018: Maternal Health, Neonatology and Perinatology
https://www.readbyqxmd.com/read/29564278/thrombocytopenia-in-hiv-patients-coinfected-with-tuberculosis
#19
A S Sandhya, Brijesh Prajapat
Thrombocytopenia is one of the most common hematological manifestations seen in HIV patients with approximately 40% of the patients developing thrombocytopenia during their course of illness. Opportunistic infection like tuberculosis is a rare but curative cause of thrombocytopenia in these patients. Clinically, it is a challenge to determine the exact cause and decide the treatment of thrombocytopenia in these patients as both infections can lead to significant thrombocytopenia by varied mechanisms. The treatment options are limited by drug antitubercular treatment highly active antiretroviral therapy (ATT and HAART)-induced thrombocytopenia...
October 2017: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/29564192/herpes-simplex-virus-encephalitis-atypical-presentation-as-a-right-middle-cerebral-artery-stroke
#20
Maria Shoaib, Jacqueline J Kraus, Muhammad T Khan
Herpes simplex virus encephalitis (HSVE) is a medical emergency associated with high mortality and morbidity. Definitive diagnosis is established by history, clinical examination, neuroimaging studies, supportive electroencephalogram (EEG) findings, and cerebrospinal fluid (CSF) analysis. We report a case of HSVE presenting as a stroke mimic in a 76-year-old female with a history of atrial fibrillation on warfarin. She was admitted to our medical intensive care unit with intermittent fever, lethargy, and new onset left-sided hemiparesis...
January 15, 2018: Curēus
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