Read by QxMD icon Read


Bengt Zöller, Xinjun Li, Henrik Ohlsson, Jianguang Ji, Ashfaque A Memon, Peter J Svensson, Karolina Palmér, Björn Dahlbäck, Jan Sundquist, Kristina Sundquist
Familial aggregation (clustering) of venous thromboembolism (VTE) is the clustering of VTE within a family. Though several genes, such as antithrombin, protein C, protein S, factor V, and prothrombin are associated with the familial clustering of VTE, these loci only partially explain the familial aggregation of VTE. The epidemiology of the familial aggregation of VTE exhibits typical characteristics of complex traits. The family history of VTE in first-degree relatives is associated with a two to three times increased familial relative risk (FRR)...
October 20, 2016: Seminars in Thrombosis and Hemostasis
Kari Branham, Hiroko Matsui, Pooja Biswas, Aditya A Guru, Michael Hicks, John J Suk, He Li, David Jakubosky, Tao Long, Amalio Telenti, Naoki Narai, John R Heckenlively, Kelly A Frazar, Paul A Sieving, Radha Ayyagari
While more than 250 genes are known to cause inherited retinal degenerations (IRD), nearly 40-50% of families have the genetic basis for their disease unknown. In this study we sought to identify the underlying cause of inherited retinal degeneration (IRD) in a family by whole genome sequence (WGS) analysis. Clinical characterization including standard ophthalmic examination, fundus photography, visual field testing, electroretinography, and review of medical and family history was performed. WGS was performed on affected and unaffected family members using Illumina HiSeq X10...
October 7, 2016: Physiological Genomics
Mohammad Zarei, Arvin Najafi, Pejman Mansouri, Sadaf Sadeghi-Yazdankhah, Houshang Saberi, Mehran Moradi, Mahmoud Farzan
OBJECTIVES: Despite the progress in understanding acute pain physiology during recent decade, eighty percent of patients still suffer from post-operative discomfort. Pregabalin is an anticonvulsant agent that is approved for painful neuropathies in diabetic patients and post herpetic neuralgia. The main objective of the present study was to compare the improvement in post-operative pain management and patient lifestyle in 3 groups, as first group received placebo, second who received Pregabalin for one day and the last group those who received it for 14 days...
October 17, 2016: Clinical Neurology and Neurosurgery
J Soler, P Ferentinos, C Prats, S Miret, M Giralt, V Peralta, L Fañanás, M Fatjó-Vilas
INTRODUCTION: This study explored schizotypy as a familial liability marker for schizophrenia-spectrum disorders (SSD) by examining: 1) the aggregation of schizotypy in families with a SSD patient, 2) whether familial resemblance of schizotypy is associated with ridge dissociations (RD), another SSD liability marker, 3) whether schizotypy aggregation patterns influence patients' psychopathology. METHODS: The sample comprised 30 SSD patients and 82 healthy first-degree relatives...
September 29, 2016: Journal of Psychiatric Research
Courtney Boen
Research links Black-White health disparities to racial differences in socioeconomic status (SES), but understanding of the role of SES in racial health gaps has been restricted by reliance on static measures of health and socioeconomic well-being that mask the dynamic quality of these processes and ignore the racialized nature of the SES-health connection. Utilizing twenty-three years of longitudinal data from the Panel Study of Income Dynamics (1984-2007), this study uses multilevel growth curve models to examine how multiple dimensions of socioeconomic well-being-including long-term economic history and differential returns to SES-contribute to the life course patterning of Black-White health disparities across two critical markers of well-being: body mass index (N = 9057) and self-rated health (N = 11,329)...
October 11, 2016: Social Science & Medicine
C Dolfus, J-P Simon, G Landemore, F Leroy, F Chapon
INTRODUCTION: The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care. The aim of our study was to investigate the presence of rimmed vacuoles and acid phosphatase positivity in muscle biopsies of patients with late-onset Pompe disease. MATERIAL AND METHODS: We retrospectively studied muscle biopsies of all cases of the adult form of Pompe disease diagnosed at the University Hospital of Caen...
2016: Folia Neuropathologica
Motoko Tanaka, Kazuki Yoshida, Shingo Fukuma, Kazuko Ito, Kazutaka Matsushita, Masafumi Fukagawa, Shunichi Fukuhara, Tadao Akizawa
OBJECTIVES: Anemia is an important prognostic factor in hemodialysis patients. It has been reported that parathyroidectomy ameliorates anemia and reduces the requirement of postoperative erythropoiesis-stimulating agents. The objective of this study was to assess the effect of cinacalcet, which is considered as a pharmacological parathyroidectomy, on anemia in hemodialysis patients. METHODS: We used data from a prospective cohort of Japanese hemodialysis patients with secondary hyperparathyroidism; the criteria were: intact parathyroid hormone concentrations ≥ 180 pg/mL or use of an intravenous or oral vitamin D receptor activator...
2016: PloS One
Noor-Ul-Huda Ghori, Atif Shafique, Muhammad Qasim Hayat, Sadia Anjum
Hepatitis C Virus (HCV) is the most prevalent human pathogen in Pakistan and is the major cause of liver cirrhosis and hepatocellular carcinoma in infected patients. It has shifted from being hypo-endemic to being hyper-endemic. There was no information about the origin and evolution of the local variants. Here we use newly developed phyloinformatic methods of sequence analysis to conduct the first comprehensive investigation of the evolutionary and biogeographic history in unprecedented detail and breadth...
2016: PloS One
Panagiotis Ferentinos, Dimitrios Margaritis, Athanasios Douzenis
Lower urinary tract outflow dysfunction is frequent in older men and a potential cause of serious complications such as acute urinary retention (AUR). Drug-induced AUR has only rarely been reported with selective serotonin reuptake inhibitors including escitalopram; reported cases had no history of urinary outflow dysfunction. We herein report the development of AUR after the introduction of escitalopram at a standard dose in 3 male patients with previously diagnosed or unknown/latent and nonsymptomatic benign prostatic hyperplasia...
October 18, 2016: Clinical Neuropharmacology
Kostas Delaunay, Florence Le Jeune, Etienne Garin, Anne Devillers, Xavier Palard-Novello
A 75-year-old man with a history of prostate cancer was referred to our department to perform F-choline (FCH) PET/CT. FCH PET/CT showed a markedly increased uptake in the right temporoparietal junction brain. Three weeks earlier, acute ischemic stroke was diagnosed in the right temporoparietal junction brain on diffusion-weighted sequence and thrombosis in a distal branch of the right middle cerebral artery on MR angiography. Choline precursors promote repair and growth of cell membranes in neurologic diseases, so FCH PET/CT uptake could be explained by repair processes during early outcome of acute ischemic stroke...
October 18, 2016: Clinical Nuclear Medicine
Lianne M Tomfohr-Madsen, Hamideh Bayrampour, Suzanne Tough
OBJECTIVES: Exposure to child abuse (CA) is associated with an increased risk of developing asthma and allergies; it is unknown if that risk is present across generations. This study investigated if 2-year-old children born to mothers with a history of CA were at an increased risk of receiving a diagnosis of asthma or allergies. METHODS: Data from 1,551 participants were collected as part of the All Our Babies (AOB) study, a prospective pregnancy cohort. During pregnancy, each woman provided information about her own history of CA, and at 24 months postpartum, she provided information about her child's medical diagnoses...
October 19, 2016: Psychosomatic Medicine
Rebecca C Thurston, Yuefang Chang, Emma Barinas-Mitchell, Roland von Känel, J Richard Jennings, Nanette Santoro, Doug P Landsittel, Karen A Matthews
OBJECTIVES: A childhood history of abuse or neglect may be associated with elevated adult cardiovascular disease (CVD) risk. No studies have examined associations between child abuse/neglect and subclinical CVD using a validated measure of abuse and neglect. We hypothesized that midlife women with a history of childhood abuse or neglect would have increased subclinical CVD beyond standard CVD risk factors. We tested moderation of associations by sleep, hot flashes, and race/ethnicity...
October 19, 2016: Psychosomatic Medicine
Kun Hwang
The aim of this paper was to review the origins and history of deltopectoral flaps and the pectoralis major myocutaneous flap.The first published paper on the deltopectoral flap was written by Aymard in 1917. He described raising a medially based fasciocutaneous flap from the shoulder skin, which was then tubed and used for staged nasal reconstruction. Conley introduced the laterally based deltopectoral flap, which was supplied by the lateral thoracic and thoracocranial branches. Bakamjian used a medially based deltopectoral flap for pharyngoesophageal reconstruction; this was an axial flap based medially on the intercostal perforating vessels of the internal mammary artery...
October 2016: Journal of Craniofacial Surgery
Cori Rogers, Petros Konofaos, Robert D Wallace
A retrospective chart review comparing pre and postoperative speech in 19 patients who underwent pharyngeal flap surgery for the diagnosis of velopharyngeal insufficiency. Eighteen of the patients had a history of cleft palate. Patients were assigned a speech grade between 1 and 5 based on the objective and subjective quality of their speech. Comparison of pre and postoperative speech showed significant improvement in speech quality from a mean grade of 3.37 to 2.00 (P < 0.001). This study demonstrates that a wide, superiorly based pharyngeal flap did lead to significant improvement in speech outcomes in this group of patients independent of gender or age...
October 2016: Journal of Craniofacial Surgery
Ji Yeoun Yoo, Lara V Marcuse, Madeline C Fields, Jillian Rosengard, Maria Vittoria Traversa, Nicolas Gaspard, Lawrence J Hirsch
INTRODUCTION: Brief potentially ictal rhythmic discharges (B(I)RDs) have been described in neonates and critically ill adults, and their association with seizures has been demonstrated. Their significance in non-critically ill adults remains unclear. We aimed to investigate their prevalence, electrographic characteristics and clinical significance. METHODS: We identified adult patients with B(I)RDs who received long term EEG recordings either in the epilepsy monitoring unit or in the ambulatory setting...
October 19, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
Seok-Youl Choi, Jong Woong Park, Dong Hwee Kim
Ultrasonographic study is useful for decision making of treatment for focal neuropathy with unusual electrodiagnostic findings. We present a patient with severe acute radial neuropathy with sensory sparing around the distal arm secondary to twisting of the radial nerve following blunt trauma. A 24-year-old man with a 2-week history of left wrist drop and severe pain around the left elbow presented after hitting the left distal arm on the doorknob. The left wrist and finger extensions were grade 0, but elbow extension could not be tested because of severe pain during this action...
November 2016: American Journal of Physical Medicine & Rehabilitation
Giuseppe Santarpino, Lazlo Gazdag, Joachim Sirch, Ferdinand Vogt, Miroslaw Ledwon, Theodor Fischlein, Steffen Pfeiffer
Bilateral internal thoracic artery (BITA) grafting may be associated with a higher risk of postoperative deep sternal wound infection than monolateral internal thoracic artery grafting due to a limited blood supply to the thoracic chest wall. Because preliminary studies suggest negative pressure wound therapy (NPWT) may reduce the risk of infection, a retrospective chart review of 129 patients who underwent BITA between February 2003 and October 2014 was conducted. Of those, 21 patients received NPWT for 5 days immediately following surgery and the incisions of 108 patients were covered with a conventional gauze dressing...
December 2015: Ostomy/wound Management
Lukasz Krokowicz, Adam Bobkiewicz, Maciej Borejsza-Wysocki, Barbara Kuczynska, Aleksandra Lisowska, Urszula Skowronska-Piekarska, Jacek Paszkowski, Jaroslaw Walkowiak, Michal Drews, Tomasz Banasiewicz
The term constipation with regard to patients with a stoma is defined as impaired bowel movements associated with increased stool consistency or long periods without bowel movements that lead to discomfort, flatulence, and abdominal pain. Information about constipation in patients with a stoma is limited. A prospective, descriptive study was conducted among patients attending ostomy and proctology outpatient clinics in Poznan, Poland between January 2011 and December 2014 to assess the role of dietary and pharmacological strategies in the management of constipation in patients with a stoma...
December 2015: Ostomy/wound Management
Jason Gardner
No abstract text is available yet for this article.
August 30, 2016: Human Gene Therapy. Clinical Development
Christine L Madliger, Oliver P Love
The application of physiological measures to conservation monitoring has been gaining momentum and, while a suite of physiological traits are available to ascertain disturbance and condition in wildlife populations, glucocorticoids (i.e., GCs; cortisol and corticosterone) are the most heavily employed. The interpretation of GC levels as sensitive indicators of population change necessitates that GCs and metrics of population persistence are linked. However, the relationship between GCs and fitness may be highly context-dependent, changing direction, or significance, depending on the GC measure, fitness metric, life history stage, or other intrinsic and extrinsic contexts considered...
July 27, 2016: Ecological Applications: a Publication of the Ecological Society of America
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"