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Williams syndrome

Camila V Ventura, Maria Paula Fernandez, Ivan A Gonzalez, Delia M Rivera-Hernandez, Roberto Lopez-Alberola, Maria Peinado, Angelica A Floren, Patricia A Rodriguez, Basil K Williams, Gabriela de la Vega Muns, Ana J Rodriguez, Catherin Negron, Brenda Fallas, Audina M Berrocal
A 6-day-old female baby with known diagnosis of congenital Zika infection was referred for ophthalmologic examination. The mother (37 years old) was referred for a pruritic rash, conjunctival hyperemia, and malaise at 12 weeks of gestation while still living in Venezuela. Upon arrival to Miami, Zika virus (ZIKV) exposure was confirmed during prenatal screening. At birth, due to the known exposure, a complete congenital ZIKV workup was performed, including brain ultrasound and MRI, which disclosed calcifications in the frontal lobe...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Andrew J Irvine, William D Chey, Alexander C Ford
OBJECTIVES: Celiac disease (CD) and irritable bowel syndrome (IBS) share similar symptoms, leading to confusion between the two and diagnostic delay. International guidelines recommend screening individuals with IBS for CD, via serological testing. However, studies published recently have cast doubt on the utility of this. We updated a previous meta-analysis examining this issue. METHODS: MEDLINE, EMBASE, and EMBASE Classic were searched through to May 2016. Eligible studies recruited adults with IBS according to symptom-based criteria, physician's opinion, or questionnaire data...
October 18, 2016: American Journal of Gastroenterology
William R Fox, Deborah B Diercks
Troponins are proteins commonly found in cardiac tissue that are released during myocardial ischemia or necrosis. These troponins can be detected by assays that can then be used to guide clinical decision-making and disposition, especially if the suspected insult is related to acute coronary syndrome. Timing of troponin measurement can be important as elevations may not be detectible immediately after an insult. New assays have been designed to detect troponin con-centrations previously too low to be detected by conventional assays...
March 2016: Clin Exp Emerg Med
James M Bjork, Thomas K Burroughs, Laura M Franke, Treven C Pickett, Sade E Johns, F Gerard Moeller, William C Walker
In military populations, traumatic brain injury (TBI) also holds potential to increase impulsivity and impair mood regulation due to blast injury effects on ventral frontal cortex - to put military personnel at risk for suicide or substance abuse. We assessed a linkage between depression and impaired behavioral inhibition in 117 blast-exposed service members (SM) and veterans with post-concussion syndrome (PCS), where PCS was defined using a Rivermead Postconcussive Symptom Questionnaire (RPQ) modified to clarify whether each symptom worsened compared to pre-blast...
October 7, 2016: Psychiatry Research
Jacob T Gutsche, Mark E Mikkelsen, Fenton H McCarthy, Todd A Miano, William J Vernick, Harish Ramakrishna, Prakash A Patel, Yianni Augoustides, Wilson Y Szeto, Nimesh D Desai, Meghan B Lane-Fall, Matthew L Williams
When clinicians consider extracorporeal life support (ECLS) for acute respiratory distress syndrome (ARDS) patients with hemodynamic instability, both veno-arterial (VA) and veno-venous (VV) ECLS are therapeutic possibilities. We analyzed 17 patients with ARDS on inotropic or vasopressor support requiring ECLS for refractory hypoxemia. After implementing VV ECLS, pressor requirements (based on norepinephrine equivalents) were significantly lower in all patients (P = .0001 for overall comparison across time points)...
October 4, 2016: Anesthesia and Analgesia
William B Karper
This research examined whether a long-term, multi-component program positively affected physical fitness, pain and fatigue in seven women with fibromyalgia syndrome. These women lived independently in the community. They attended a university-based program 3 days per week, 1 hour per session, year-around for many years. They were evaluated periodically with a fitness test and rating scale regarding pain and fatigue. Results from when they began the program versus most recently are provided. All of these women showed various positive results from participation in the program...
2016: Journal of Women & Aging
John Rathbone, Richard Franklin, Clinton Gibbs, David Williams
Signs of Irukandji syndrome (IS) suggest an underlying catecholamine storm with research demonstrating that Carukia barnesi venom causes a significant rise in adrenaline/noradrenaline serum levels. A systematic review was undertaken to ascertain the current evidence in treating IS with magnesium salts. A literature search was conducted using Scopus, Medline and ScienceDirect. Further articles were discarded via title description and/or abstract details. The remaining were read in full, and those identified as not having sufficient information regarding magnesium and patient outcomes were removed...
October 17, 2016: Emergency Medicine Australasia: EMA
Michelle K Haas, Kristen Dalton, Bryan C Knepper, Sarah A Stella, Lilia Cervantes, Connie S Price, William J Burman, Philip S Mehler, Timothy C Jenkins
Background.  Syndrome-specific interventions are a recommended approach to antibiotic stewardship, but additional data are needed to understand their potential impact. We implemented an intervention to improve the management of inpatient community-acquired pneumonia (CAP) and evaluated its effects on antibiotic and resource utilization. Methods.  A stakeholder group developed and implemented a clinical practice guideline and order set for inpatient, non-intensive care unit CAP recommending a short course (5 days) of a fluoroquinolone-sparing antibiotic regimen in uncomplicated cases...
October 2016: Open Forum Infectious Diseases
Mark Doyle, Gerald M Pohost, C Noel Bairey Merz, Leslee J Shaw, George Sopko, William J Rogers, Barry L Sharaf, Carl J Pepine, Diane V Thompson, Geetha Rayarao, Lindsey Tauxe, Sheryl F Kelsey, Robert W W Biederman
BACKGROUND: We introduce an algorithmic approach to optimize diagnostic and prognostic value of gated cardiac single photon emission computed tomography (SPECT) and magnetic resonance (MR) myocardial perfusion imaging (MPI) modalities in women with suspected myocardial ischemia. The novel approach: bio-informatics assessment schema (BIAS) forms a mathematical model utilizing MPI data and cardiac metrics generated by one modality to predict the MPI status of another modality. The model identifies cardiac features that either enhance or mask the image-based evidence of ischemia...
October 2016: Cardiovascular Diagnosis and Therapy
Annie Elong Ngono, Hui-Wen Chen, William W Tang, Yunichel Joo, Kevin King, Daniela Weiskopf, John Sidney, Alessandro Sette, Sujan Shresta
Infection with one of the four dengue virus serotypes (DENV1-4) presumably leads to lifelong immunity against the infecting serotype but not against heterotypic reinfection, resulting in a greater risk of developing Dengue Hemorrhagic Fever/Dengue Shock Syndrome (DHF/DSS) during secondary infection. Both antibodies and T cell responses have been implicated in DHF/DSS pathogenesis. According to the T cell-based hypothesis termed "original antigenic sin," secondary DENV infection is dominated by non-protective, cross-reactive T cells that elicit an aberrant immune response...
October 7, 2016: EBioMedicine
Jacob Taylor, William S Anderson, Jason Brandt, Zoltan Mari, Gregory M Pontone
Although Parkinson disease (PD) is defined clinically by its motor symptoms, it is increasingly recognized that much of the disability and worsened quality of life experienced by patients with PD is attributable to psychiatric symptoms. The authors describe a model of multidisciplinary care that enables these symptoms to be effectively managed. They describe neuropsychiatric complications of PD itself and pharmacologic and neurostimulation treatments for parkinsonian motor symptoms and discuss the management of these complications...
September 3, 2016: American Journal of Geriatric Psychiatry
Bin Guan, James M Welch, Julie C Sapp, Hua Ling, Yulong Li, Jennifer J Johnston, Electron Kebebew, Leslie G Biesecker, William F Simonds, Stephen J Marx, Sunita K Agarwal
Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands. Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part of a syndrome, such as multiple endocrine neoplasia type 1 or hyperparathyroidism-jaw tumor syndrome. The specific genetic or other cause(s) of FIHP are unknown. We performed exome sequencing on germline DNA of eight index-case individuals from eight unrelated kindreds with FIHP...
October 13, 2016: American Journal of Human Genetics
Hongzheng Dai, Victor Wei Zhang, Ayman W El-Hattab, Can Ficicioglu, Marwan Shinawi, Matthew Lines, Andreas Schulze, Markey McNutt, Garret Gotway, Xia Tian, Stella Chen, Jing Wang, William J Craigen, Lee-Jun Wong
Mutations in FBXL4 have recently been recognized to cause a mitochondrial disorder, with clinical features including early-onset lactic acidosis, hypotonia, and developmental delay. FBXL4 sequence analysis was performed in 808 subjects suspected to have a mitochondrial disorder. In addition, 28 samples from patients with early onset of lactic acidosis, but without identifiable mutations in 192 genes known to cause mitochondrial diseases, were examined for FBXL4 mutations. Definitive diagnosis was made in ten new subjects with a total of seven novel deleterious variants; five null and two missense substitutions...
October 15, 2016: Clinical Genetics
Emma Hitchcock, William T Gibson
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family...
October 14, 2016: Journal of Genetic Counseling
Pierre R Bourque, Gabrielle Bourque, William Miller, John Woulfe, Jodi Warman Chardon
Perineural invasion is a targeted cellular proliferation guided by neurotrophins, rather than a simple diffusion of tumor in a path of least resistance. Invasion of cranial nerves by squamous cell carcinoma can represent an important diagnostic dilemma. It commonly presents as a distinct clinical neurological syndrome of combined isolated trigeminal and facial neuropathies. The focal cancer source may have been overlooked or remain occult. This case series illustrates diverse clinical presentations and neuroimaging challenges in four patients with squamous cell carcinoma of the cranial nerves...
October 11, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Ercan Mıhçı, Banu Güzel Nur, Sibel Berker-Karaüzüm, Aygen Yılmaz, Reha Artan
Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted...
November 2015: Turkish Journal of Pediatrics
Heather M Byers, Margaret P Adam, Amy LaCroix, Sarah E S Leary, Bonnie Cole, William B Dobyns, Heather C Mefford
Atypical teratoid rhabdoid tumors of the central nervous system are rare, highly malignant, embryonal tumors most often occurring in children under age 3 years. Most are due to a somatic change in tumor suppressor gene SMARCB1 followed by a second-hit, typically loss of heterozygosity, best detected on immunohistochemical staining. Despite the noteworthy genetic homogeneity of atypical teratoid rhabdoid tumors, relatively little is known about the oncogenic mechanisms that lead to biallelic inactivation of SMARCB1...
October 12, 2016: American Journal of Medical Genetics. Part A
Manmeet K Mamik, Eugene L Asahchop, Wing F Chan, Yu Zhu, William G Branton, Brienne A McKenzie, Eric A Cohen, Christopher Power
: HIV-1 infection of the brain causes the neurodegenerative syndrome HIV-associated neurocognitive disorders (HAND), for which there is no specific treatment. Herein, we investigated the actions of insulin using ex vivo and in vivo models of HAND. Increased neuroinflammatory gene expression was observed in brains from patients with HIV/AIDS. The insulin receptor was detected on both neurons and glia, but its expression was unaffected by HIV-1 infection. Insulin treatment of HIV-infected primary human microglia suppressed supernatant HIV-1 p24 levels, reduced CXCL10 and IL-6 transcript levels, and induced peroxisome proliferator-activated receptor gamma (PPAR-γ) expression...
October 12, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Jacqueline R Rivas, Sara J Ireland, Rati Chkheidze, William H Rounds, Joseph Lim, Jordan Johnson, Denise M O Ramirez, Ann J Ligocki, Ding Chen, Alyssa A Guzman, Mark Woodhall, Patrick C Wilson, Eric Meffre, Charles White, Benjamin M Greenberg, Patrick Waters, Lindsay G Cowell, Ann M Stowe, Nancy L Monson
Plasmablasts are a highly differentiated, antibody secreting B cell subset whose prevalence correlates with disease activity in Multiple Sclerosis (MS). For most patients experiencing partial transverse myelitis (PTM), plasmablasts are elevated in the blood at the first clinical presentation of disease (known as a clinically isolated syndrome or CIS). In this study we found that many of these peripheral plasmablasts are autoreactive and recognize primarily gray matter targets in brain tissue. These plasmablasts express antibodies that over-utilize immunoglobulin heavy chain V-region subgroup 4 (VH4) genes, and the highly mutated VH4+ plasmablast antibodies recognize intracellular antigens of neurons and astrocytes...
October 11, 2016: Acta Neuropathologica
Thiago Almeida Pereira, Wing-Kin Syn, Fausto E L Pereira, José Roberto Lambertucci, William Evan Secor, Anna Mae Diehl
Schistosomiasis is a major cause of fibrosis and portal hypertension. The reason 4-10% of infected subjects develops hepatosplenic schistosomiasis remains unclear. Chronically infected male CBA/J mice reproduce the dichotomic forms of human schistosomiasis. Most mice (80%) develop moderate splenomegaly syndrome (similar to hepatointestinal disease in humans) and 20% present severe hypersplenomegaly syndrome (analogous to human hepatosplenic disease). We demonstrated that the profibrogenic molecule osteopontin discriminates between mice with severe and mild disease and could be a novel morbidity biomarker in murine and human schistosomiasis...
October 10, 2016: International Journal for Parasitology
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