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Roxann Diez Gross, Ronit Gisser, Gregory Cherpes, Katie Hartman, Rishi Maheshwary
Prader-Willi Syndrome (PWS) is caused by a genetic imprinting abnormality resulting from the lack of expression of the paternal genes at 15q11-q13. Intellectual disability, low muscle tone, and life-threatening hyperphagia are hallmarks of the phenotype. The need for the Heimlich maneuver, death from choking, and pulmonary infection occur in a disproportionally high number of persons with PWS. The widely held belief is that eating behaviors are responsible for choking and aspiration; yet, no investigation had sought to determine if swallowing impairments were present in persons with PWS...
October 19, 2016: American Journal of Medical Genetics. Part A
Felipe P Andrade, Roberto Montoro, Renan Oliveira, Gabriela Loures, Luana Flessak, Roberta Gross, Camille Donnabella, Andrea Puchnick, Lisa Suzuki, Rodrigo Regacini
OBJECTIVES: 1) To verify clinical signs correlated with appropriate cranial computed tomography scan indications and changes in the therapeutic approach in pediatric minor head trauma scenarios. 2) To estimate the radiation exposure of computed tomography scans with low dose protocols in the context of trauma and the additional associated risk. METHODS: Investigators reviewed the medical records of all children with minor head trauma, which was defined as a Glasgow coma scale ≥13 at the time of admission to the emergency room, who underwent computed tomography scans during the years of 2013 and 2014...
October 1, 2016: Clinics
Roberto Hegg, André Mattar, João Nunes de Matos-Neto, José Luiz Pedrini, Sabina Bandeira Aleixo, Roberto Odebrecht Rocha, Renato Peixoto Cramer-Junior, Sylvie van-Eyll-Rocha
OBJECTIVES: To compare the efficacy and safety of two filgrastim formulations for controlling chemotherapy-induced neutropenia and to evaluate the non-inferiority of the test drug relative to the originator. METHODS: This phase III non-inferiority study had a randomized, multicenter, and open-label design. The patients were randomized at a ratio of 1:1 with a follow-up period of 6 weeks for each patient. In both study arms, filgrastim was administered subcutaneously at a daily dose of 5 mg/kg body weight...
October 1, 2016: Clinics
Marina Parca Cavelagna Teixeira, Tatiana Peloso Reis Queiroga, Maria Dos Anjos Mesquita
Objective: To determine the frequency and risk factors of small-for-gestational-age newborns in a high-risk maternity. Methods: This is an observational, cross-sectional, and case-control study, conducted in a public tertiary care maternity hospital. Data from 998 newborns and their mothers were collected through interviews and review of medical records and prenatal care cards. Some placentas underwent histopathological analysis. The variables of small-for-gestational-age and non-small-for-gestational-age newborns and of their mothers were statistically compared by means of Student's t test, Fisher's exact test, and odds ratio...
July 2016: Einstein
Flavia Westphal, Suzete Maria Fustinoni, Vânia Lopes Pinto, Patrícia de Souza Melo, Anelise Riedel Abrahão
Objective: To identify the profile of women seen in a Fetal Medicine unit, diagnosed with fetal abnormality incompatible with neonatal survival in their current pregnancy, and to check the association of gestational age upon diagnosis with the option of pregnancy termination. Methods: This is a retrospective cohort study carried out in the Fetal Medicine Outpatients Clinic of a university hospital, in the city of São Paulo (SP), Brazil, using medical records of pregnant women with fetus presenting abnormalities incompatible with neonatal survival...
July 2016: Einstein
Mehran Peyvasteh, Shahnam Askarpour, Nasrollah Ostadian, Mohammad-Reza Moghimi, Hazhir Javaherizadeh
Background: Hirschsprung's disease is the most common cause of pediatric intestinal obstruction. Contrast enema is used for evaluation of the patients with its diagnosis. Aim: To evaluate sensitivity, specificity, positive predictive value, and negative predictive value of radiologic findings for diagnosis of Hirschsprung in patients underwent barium enema. Methods: This cross sectional study was carried out in Imam Khomeini Hospital for one year starting from 2012, April...
July 2016: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
Hamilton C Tsang, Susan Mathew, Cynthia M Magro
Diffuse large cell B-cell lymphoma of the skin is most commonly represented by diffuse large cell variants of primary cutaneous follicle center lymphoma and the leg-type lymphoma. In a minority of cases, the infiltrates are an expression of stage 4 disease of established extracutaneous B-cell lymphoma. We describe 1 female patient 85 years of age with an aggressive form of primary cutaneous B-cell lymphoma manifesting in multiple firm erythematous indurated solid nodules 1-2 cm each symmetrically on the face periorbitally and on the upper extremities bilaterally...
October 18, 2016: American Journal of Dermatopathology
Cheal Wung Huh, Sung Ill Jang, Beom Jin Lim, Hee Wook Kim, Jae Keun Kim, Jun Sung Park, Ja Kyung Kim, Se Joon Lee, Dong Ki Lee
Common bile duct (CBD) stones are generally associated with greater elevations of alkaline phosphatase and gamma-glutamyl transpeptidase levels than aspartate aminotransferase and alanine aminotransferase levels. However, some patients with CBD stones show markedly increased aminotransferase levels, sometimes leading to the misdiagnosis of liver disease. Therefore, the aim of this study was to investigate the clinicopathologic features of patients with CBD stones and high aminotransferase levels.This prospective cohort study included 882 patients diagnosed with CBD stones using endoscopic retrograde cholangiopancreatography (ERCP)...
October 2016: Medicine (Baltimore)
Grzegorz Jedrzejewski, Magdalena M Wozniak, Agata Pawelec, Albert Matera, Magdalena Kunach, Tomasz Madej, Andrzej P Wieczorek, Katarzyna Nowakowska
The aim of the ultrasound (US) screening program was to detect neoplastic lesions in children, together with other pathologies of the developmental age in the area of the neck, abdomen, female pelvis, and scrotum in boys.US screening scans, including cervical, abdominal, pelvical, and scrotal US, were performed in the population of asymptomatic children aged from 9 months to 6 years. The children were scanned in Mobile Pediatric US Unit, consisting of 2 independent consulting rooms.The scans of 14,324 children were analyzed, 7247 boys and 7077 girls...
October 2016: Medicine (Baltimore)
Richard F Spaide
PURPOSE: To investigate the structural optical coherence tomography and related microvascular flow characteristics in eyes with retinal vasculitis. METHODS: Regions involved with perivascular infiltration in eyes with retinal vasculitis, but no evidence of large vessel occlusion were evaluated with optical coherence tomography (OCT), OCT angiography, and fluorescein angiography. RESULTS: Ten eyes of 5 patients with a variety of etiologies of retinal vasculitis were evaluated...
October 18, 2016: Retina
Aswini Sivasankaran, Kanakavalli Murthy, Venkata P Oruganti, Anuradha Deenadayalu, Chandra R Samuel, Lakshmi R Kandukuri
Partial trisomy of the short arm of chromosome 6 is a rare and clinically distinct syndrome. The breakpoints have been found to be variable ranging from bands 6p11 to 6p25. This study reports partial trisomy for 6p22.3→pter in a 2-year-old boy referred with a complaint of developmental delay and facial dysmorphism. Conventional cytogenetic analysis showed the presence of an abnormal chromosome 5 resulting from an unbalanced translocation in the proband. Array comparative genomic hybridization revealed trisomy of distal 6p which was confirmed by fluorescence in situ hybridization using subtelomeric probes for chromosomes 5 and 6...
October 18, 2016: Clinical Dysmorphology
Afshin Shirkani, Mohammad Shahrooei, Gholamreza Azizi, Hassan Rokni-Zadeh, Hassan Abolhassani, Shokrollah Farrokhi, Glynis Frans, Xavier Bossuyt, Asghar Aghamohammadi
ZAP-70 deficiency is a rare autosomal recessive form of combined immunodeficiency (CID) characterized by selective absence of circulating CD8 T cells with low, normal, or increased CD4 T cells in peripheral blood. Up to now, 14 unique mutations in the ZAP70 gene have been identified in patients with ZAP-70-related CID. We present a 3-year-old boy with a history of recurrent bacterial infections and autoimmunity. Initial laboratory findings showed a normal total lymphocyte count, but low levels of CD8 and CD4 T cells and an abnormal lymphocyte proliferation response...
October 19, 2016: Immunological Investigations
Y Krylova, V Polyakova, I Kvetnoy, I Kogan, L Dzhemlikhanova, D Niauri, A Gzgzyan, E Ailamazyan
: Abstracts Background: Implantation failure of in vitro fertilization (IVF) cycles is recognized as one of key problems in contemporary reproductive medicine. Implantation itself is a multifactorial process and one can hardly expect to find a single criterion for the endometrium receptivity. Endometrium biopsy still remains the most applicable technique to diagnose abnormalities causing decrease or complete loss of endometrial receptivity. MATERIALS AND METHODS: We have studied 95 endometrial biopsy samples from 45 patient with I/II stage endometriosis and 40 controls from October 2014 to December 2015...
October 2016: Gynecological Endocrinology
M R Orazov, E N Nosenko, V E Radzinsky, M B Khamoshina, M G Lebedeva, M A Sounov
AIM: The study of peculiarities of expression of vascular endothelial growth factor (VEGF) in the tissues of the endometrium and myometrium in patients with adenomyosis, associated with chronic pelvic pain syndrome. MATERIALS AND METHODS: Uterus macro-preparations obtained after hysterectomy in 60 patients with pelvic pain on a background of diffuse adenomyosis II-III degree were used for morphological examination, and macro-preparations received from 30 women with adenomyosis without pain syndrome...
October 2016: Gynecological Endocrinology
A M Kurmanova, G M Kurmanova, V N Lokshin
The viral hepatitis abnormalities in the female reproductive system are due to hepatic and extrahepatic damage. On the background of HBV- and HCV-infections, menstrual disorders prevail in the structure of reproductive system pathology; disorders of reproductive function in the form of pregnancy loss and infertility are detected in each second case. Depression of T-cell immunity in the immune status is observed in the patients with intact reproductive function. When miscarriage was in past medical history then divergent changes subpopulations of lymphocytes are found...
October 2016: Gynecological Endocrinology
N Aleksandrova, E Shubina, A Ekimov, T Kodyleva, I Mukosey, N Makarova, E Kulakova, L Levkov, D Trofimov, G Sukhikh
Chromosomal aneuploidies are known for being the main cause of abnormal development of embryos with normal morphology, their implantation failure and early reproductive losses in IVF treatments. Preimplantation genetic screening (PGS) allows selecting embryos with normal chromosomal content and increases IVF treatment efficiency due to higher implantation rates and less frequent early pregnancy losses. New technologies used for PGS allow making genome-wide analysis of the presence of all chromosomes in embryos...
October 2016: Gynecological Endocrinology
V Muller, M Makhmadalieva, I Kogan, I Fedorova, E Lesik, E Komarova, L Dzhemlikhanova, D Niauri, A Gzgzyan, E Ailamazyan
BACKGROUND: Ectopic pregnancy (EP) has been reported to occur in 1.4-5.4% of all clinical pregnancies resulting from in vitro fertilization (IVF) and embryo transfer (ET). Data on factors associated with abnormal embryo implantation following assisted conception are limited. MATERIALS AND METHODS: A systematic review and meta-analysis was performed to determine whether there is an association between the day (cleavage-stage, D3, versus blastocyst, D5) or the type (fresh versus frozen/thawed) of ET and EP rate...
October 2016: Gynecological Endocrinology
R Crippa, M Paglia, F Ferrante, A Ottonello, F Angiero
: BACKGROUND Often breastfeeding problems experienced by mothers and their babies may be attributed to the abnormal attachment of the infant's tongue (ankyloglossia) and/or maxillary lip-tie. Proper breastfeeding depends upon an infant's ability to correctly latch onto its mother's breast. If born with oral soft tissue abnormalities such as tongue-tie or lip-tie, it may be almost impossible for the infant to breastfeed. During the oral evaluation of an infant presenting with breastfeeding problems, one factor that is often overlooked and undiagnosed - and thus untreated - is the attachment of the upper lip to the maxillary gingival tissue...
September 2016: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
Oruganti Sai Satish, K Sashikanth Srivastav
Till recently, ST segment elevation in the absence of conduction abnormalities or chest pain occurring particularly in young bradycardia individuals has been considered a normal variant called early repolarisation (ER). However, recent studies suggest a more worrisome picture as patients with history of idiopathic ventricular fibrillation showed increased prevalence of ER in ECG. ER is an ECG pattern characterised by elevation of the QRS-ST junction (J point) ≥ 2 mv from baseline in the inferior (II, III, aVF) or lateral (I, aVL, V4-V6) leads manifested as QRS slurring or notching...
July 2016: Journal of the Association of Physicians of India
Mohit Arora, Rekha S Patil
AIM AND OBJECTIVE: To study the cardiac manifestations of the dengue fever. METHODS: This one year descriptive study was undertaken at KLES Dr. Prabhakar Kore Hospital and Medical Research Centre, Belgaum under the Department of Medicine. A total of 120 patients with either dengue IgM or IgM and IgG were studied. The assessment of cardiac manifestations was done based on electrocardiogram, 2D echocardiography and cardiac enzymes. RESULTS: Of the 120 patients, 85 (70...
July 2016: Journal of the Association of Physicians of India
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