keyword
MENU ▼
Read by QxMD icon Read
search

adult congenital

keyword
https://www.readbyqxmd.com/read/29911091/high-congenital-hip-dislocation-in-adults-arthroplasty-and-functional-results
#1
Diogo Lino Moura, António Figueiredo
Objective: Retrospective case-control study on the authors' experience regarding arthroplasty in high congenital dislocations of the hip in adults. Methods: Sample with 11 high congenital hip dislocations (Hartofilakidis type C) that occurred in seven patients, who were submitted to hip arthroplasty by the same surgeon and with the same surgical technique. Mean follow-up period was 4.32 ± 2.67 years (minimum one year) and all patients were evaluated by the same examiner...
March 2018: Revista Brasileira de Ortopedia
https://www.readbyqxmd.com/read/29911014/biventricular-noncompaction-cardiomyopathy-accompanied-by-severe-pulmonary-valvular-stenosis-and-patent-foramen-ovale
#2
Kurtulus Karauzum, Irem Yilmaz Karauzum, Tayfun Sahin, Teoman Kilic
Myocardial non-compaction (NC) is a rare genetic cardiomyopathy commonly believed to develop an intrauterine arrest of endomyocardial morphogenesis. NC is characterized by markedly hypertrabeculations in left ventricle or both ventricles with deep intertrabecular recesses. NC is usually seen isolated, but sometimes other congenital heart abnormalities may accompany to the myocardial NC. In this article we have presented an adult patient with biventricular myocardial NC cardiomyopathy accompanied by severe valvular pulmonary stenosis and patent foramen ovale...
April 2018: Journal of Cardiovascular Echography
https://www.readbyqxmd.com/read/29909741/long-term-follow-up-of-a-female-patient-with-non-classical-11%C3%AE-hydroxylase-deficiency-and-two-novel-mutations-in-cyp11b1
#3
Sabina Zacharieva, Ralitsa Robeva, Silvia Andonova, Radoslava Vazharova, Lubomir Balabanski, Maya Atanasoska, Draga Toncheva, Atanaska Elenkova, Alexey Savov
11β-Hydroxylase deficiency is the second most common enzyme disorder after 21-hydroxylase deficiency causing congenital adrenal hyperplasia (CAH11β ). In females, the clinical phenotype of CAH11β classic forms is associated with ambiguous genitalia, virilization and hypertension, while most common complaints in milder non-classic forms include hirsutism, acne, menstrual disturbances, and infertility. Herein, we present clinical and genetic characteristics of an adult woman with 11β-hydroxylase deficiency, hypertension and infertility; she has been followed up from her first pregnancy to her early menopause...
June 17, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29906457/enhanced-perception-of-pitch-changes-in-speech-and-music-in-early-blind-adults
#4
Laureline Arnaud, Vincent Gracco, Lucie Ménard
It is well known that congenitally blind adults have enhanced auditory processing for some tasks. For instance, they show supra-normal capacity to perceive accelerated speech. However, only a few studies have investigated basic auditory processing in this population. In this study, we investigated if pitch processing enhancement in the blind is a domain-general or domain-specific phenomenon, and if pitch processing shares the same properties as in the sighted regarding how scores from different domains are associated...
June 12, 2018: Neuropsychologia
https://www.readbyqxmd.com/read/29904499/pituitary-stalk-interruption-syndrome-presenting-in-a-euthyroid-adult-with-short-stature
#5
Atif Nawaz, Muhammad Azeemuddin, Jehanzeb Shahid
Pituitary stalk interruption syndrome (PSIS) is a distinct and rare clinical entity responsible for congenital hypopituitarism resulting in deficiency of pituitary hormones with deficiency of the growth hormone (100%) and gonadotropins (97.2%) being its most common presentation at the time of hospital encounter (Wang et al., 2015). Isolated sparing of thyroid-stimulating hormone (TSH) with deficiency of the remaining anterior pituitary hormones may be present in PSIS, as is true in our case. Therefore, it should be kept in mind at the time of examination in suspected cases of PSIS...
April 2018: Radiology case reports
https://www.readbyqxmd.com/read/29903417/did-zika-virus-mutate-to-cause-severe-outbreaks
#6
REVIEW
Shannan L Rossi, Gregory D Ebel, Chao Shan, Pei-Yong Shi, Nikos Vasilakis
Zika virus (ZIKV) has challenged the assumed knowledge regarding the pathobiology of flaviviruses. Despite causing sporadic and mild disease in the 50 years since its discovery, Zika virus has now caused multiple outbreaks in dozens of countries worldwide. Moreover, the disease severity in recent outbreaks, with neurological disease in adult and devastating congenital malformations in fetuses, was not previously seen. One hypothesis is that the virus has acquired mutations that have increased its virulence...
June 11, 2018: Trends in Microbiology
https://www.readbyqxmd.com/read/29902465/national-benchmarks-of-proportions-of-patients-receiving-transfusions-during-pediatric-heart-surgery
#7
Vyas M Kartha, Mohamed Rehman, Jeffrey P Jacobs, Marshall L Jacobs, David Vener, Kevin D Hill, James M Meza, Sean M O'Brien, Liqi Feng, Karen Chiswell, Neil A Goldenberg, Sara K Pasquali, Pirooz Eghtesady, Vinay Badhwar
BACKGROUND: To determine national benchmarks and assess variability across centers, the STS Congenital Heart Surgery Database (CHSD) was analyzed to document proportions of patients receiving intraoperative blood transfusion during open heart surgery. METHODS: Index CPB operations reported in the STS CHSD (2014-2015) were potentially eligible for inclusion. Data from centers with > 15% missing data for packed red blood cell (PRBC) transfusion were excluded, as were individual records missing information about PRBC transfusion...
June 11, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29902283/botulinum-toxin-chemodenervation-for-childhood-strabismus-in-england-national-and-local-patterns-of-practice
#8
Ameenat Lola Solebo, Anne-Marie Austin, Maria Theodorou, Chris Timms, Joanne Hancox, Gillian G W Adams
BACKGROUND: Botulinum toxin injection chemodenervation is a well-established intervention for adult strabismus, and has also been recognised as an effective alternative to routine incisional surgery for paediatric disease. We aimed to investigate the temporal patterns of practice, indications and outcomes of chemodenervation for paediatric strabismus at national and tertiary centre level. METHODS: Retrospective study using routinely collected patient data: Hospital Episode Statistics (HES) data were used to identify children undergoing non-incisional strabismus procedures in England from 2007 to 2016...
2018: PloS One
https://www.readbyqxmd.com/read/29900496/zika-virus-envelope-protein-and-antibody-complexes
#9
Lianpan Dai, Qihui Wang, Hao Song, George Fu Gao
Zika virus (ZIKV) is a re-emerged human pathogen, belonging to a super serogroup with dengue virus. Infection of ZIKV can lead to severe congenital symptoms, such as microcephaly, in newborns and Guillain-Barré syndrome in adults. To date, no prophylactics and therapeutics are available. Flavivirus envelope (E) protein represents the major target for neutralizing antibodies, while antibody response is the key correlate of protection against ZIKV infection. A panel of monoclonal antibodies (MAbs) were found to neutralize ZIKV infection and some of them exhibited strong potential as antivirals...
2018: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/29900034/-intramedullary-neuroenteric-cyst-case-report-and-review-of-the-literature
#10
REVIEW
Leopoldo Luciano Luque, Maximo Marchetti, Daniel Seclen, Ariel Sainz, Marcelo Platas, Jorge Lambre
Neurenteric cysts (NC) are rare, benign, congenital lesions, caused by abnormal or persistent communications between neuroectodermal structures, the notochord and endodermal tissue. They present mainly in the pediatric population or young adults, coexisting with spinal, gastrointestinal or respiratory malformations. They are typically intradural extramedullary tumors, with intramedullary lesions the exception. The objective of this paper is to report the case of a cervical intramedullary neuroenteric cyst in a young adult, without coexisting malformations...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29899714/the-role-of-clinical-psychology-and-peer-to-peer-support-in-the-management-of-chronic-medical-conditions-a-practical-example-with-adults-with-congenital-heart-disease
#11
Edward Callus, Gabriella Pravettoni
Clinical psychology services and peer to peer support can both contribute in increasing the psychological wellbeing of patients with chronic medical conditions. In this perspective paper, indications are given about the provision these services for the specific case of adults with congenital heart disease. These patients are at an increased risk of psychological distress, neurocognitive deficits, and social challenges. The psychosocial characteristics and mental health treatment preferences of these patients are briefly described, followed by guidelines and indications for the implementation of clinical psychology services...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29899647/causes-of-permanent-severe-visual-impairment-and-blindness-among-jordanian-population
#12
Basel Turki Baarah, Raed Ali Shatnawi, Ahmed Essa Khatatbeh
PURPOSE: To report the causes of permanent severe visual impairment and blindness among Jordanian blind people. MATERIALS AND METHODS: This study was conducted on 1422 legally blind or worse vision people of all ages who attended the ophthalmic division of a medical committee for evaluation of disabled persons from July 2013 through November 2014. They were divided into two age groups: adult group (998 cases) and childhood group (<16 years, 424 cases). Patients presented reports from their ophthalmologists detailing their eye examination including best-corrected visual acuity, slit-lamp examinations, and if applicable, intraocular pressure, dilated ophthalmoscopy, and visual field and the primary cause of visual impairment...
January 2018: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/29898956/congenital-macrothrombocytopenia-with-focal-myelofibrosis-due-to-mutations-in-human-g6b-b-is-rescued-in-humanized-mice
#13
Inga Hofmann, Mitchell J Geer, Timo Vögtle, Andrew Crispin, Dean R Campagna, Alastair Barr, Monica L Calicchio, Silke Heising, Johanna P van Geffen, Marijke J E Kuijpers, Johan W M Heemskerk, Johannes A Eble, Klaus Schmitz-Abe, Esther A Obeng, Michael Douglas, Kathleen Freson, Corinne Pondarré, Rémi Favier, Gavin E Jarvis, Kyriacos Markianos, Ernest Turro, Willem H Ouwehand, Alexandra Mazharian, Mark D Fleming, Yotis A Senis
Unlike primary myelofibrosis (PMF) in adults, myelofibrosis in children is rare. Congenital (inherited) forms of myelofibrosis (cMF) have been described, but the underlying genetic mechanisms remain elusive. Here we describe 4 families with autosomal recessive inherited macrothrombocytopenia with focal myelofibrosis due to germline loss-of-function mutations in the megakaryocyte-specific immunoreceptor tyrosine-based inhibitory motif (ITIM)-containing receptor G6b-B (G6b, C6orf25 or MPIG6B). Patients presented with a mild-to-moderate bleeding diathesis, macrothrombocytopenia, anemia, leukocytosis and atypical megakaryocytes associated with a distinctive, focal, perimegakaryocytic pattern of bone marrow fibrosis...
June 13, 2018: Blood
https://www.readbyqxmd.com/read/29897831/zika-virus-vaccines-and-antiviral-strategies
#14
Sophie Masmejan, David Baud, Didier Musso, Alice Panchaud
Zika virus (ZIKV) recently emerged as a global public health emergency of international concern. ZIKV is responsible for severe neurological complications in adults and infection during pregnancy can lead to congenital Zika syndrome. There is no licensed vaccine or drug to prevent or treat ZIKV infection. Areas covered: The aim of this article is to provide an overview and update of the progress of research on anti-ZIKV vaccine and medications until the end of 2017, with a special emphasis on drugs that can be used during pregnancy...
June 13, 2018: Expert Review of Anti-infective Therapy
https://www.readbyqxmd.com/read/29897329/point-of-care-diagnostic-assay-for-the-detection-of-zika-virus-using-the-recombinase-polymerase-amplification-method
#15
Nadina I Vasileva Wand, Laura C Bonney, Robert J Watson, Victoria Graham, Roger Hewson
The sudden and explosive expansion of Zika virus (ZIKV) from the African continent through Oceania and culminating in the outbreak in South America has highlighted the importance of new rapid point-of-care diagnostic tools for the control and prevention of transmission. ZIKV infection has devastating consequences, such as neurological congenital malformations in infants born to infected mothers and Guillain-Barré syndrome in adults. Additionally, its potential for transmission through vector bites, as well as from person to person through blood transfusions and sexual contact, are important considerations for prompt diagnosis...
June 13, 2018: Journal of General Virology
https://www.readbyqxmd.com/read/29896405/optic-neuropathy-and-congenital-glaucoma-associated-with-probable-zika-virus-infection-in-venezuelan-patients
#16
C Gustavo De Moraes, Michele Pettito, Juan B Yepez, Anavaj Sakuntabhai, Etienne Simon-Loriere, Mussaret B Zaidi, Matthieu Prot, Claude Ruffie, Susan S Kim, Rando Allikmets, Joseph D Terwilliger, Joseph H Lee, Gladys E Maestre
Introduction: Although the current Zika virus (ZIKV) epidemic is a major public health concern, most reports have focused on congenital ZIKV syndrome, its most devastating manifestation. Severe ocular complications associated with ZIKV infections and possible pathogenetic factors are rarely described. Here, we describe three Venezuelan patients who developed severe ocular manifestations following ZIKV infections. We also analyse their serological response to ZIKV and dengue virus (DENV)...
May 2018: JMM Case Reports
https://www.readbyqxmd.com/read/29894351/positional-oxygenation-changes-in-an-adult-patient-with-scimitar-syndrome-a-case-report
#17
Demet Sergin, Burçak Tanattı, Sezgin Ulukaya
Scimitar syndrome is a rare complex of congenital anomalies of the cardiopulmonary system. In patients with scimitar syndrome, the right pulmonary vein abnormally drains into the inferior vena cava, right atrium, coronary sinus, azygos vein, portal vein, or hepatic vein. The syndrome gets its name from the Turkish sword-like image that appears on chest x-ray. Some patients with scimitar syndrome survive in adulthood undiagnosed. Herein, we discuss positional oxygenation and hemodynamic changes associated with scimitar syndrome, especially in the left lateral decubitus position, detected during preoperative anesthetic examination in an adult patient who underwent general anesthesia for left mastectomy...
June 11, 2018: A&A practice
https://www.readbyqxmd.com/read/29893456/dramatic-bone-remodeling-following-larotrectinib-administration-for-bone-metastasis-in-a-patient-with-trk-fusion-congenital-mesoblastic-nephroma
#18
Hadeel Halalsheh, Mary Beth McCarville, Michael Neel, Mark Reynolds, Michael C Cox, Alberto S Pappo
Mesoblastic nephroma is the most frequent renal tumor in newborns and young infants, and the cellular type is characterized by an ETV6-NTRK fusion, which constitutively activates the tropomyosin-related kinase (TRK) signaling pathway. Larotrectinib is a highly selective TRK inhibitor with activity in adult and pediatric patients who have TRK fusions. We present a rare case of a patient with mesoblastic nephroma metastatic to bone who had a dramatic response to larotrectinib.
June 12, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29892259/abnormalities-in-skeletal-muscle-myogenesis-growth-and-regeneration-in-myotonic-dystrophy
#19
REVIEW
Laurène M André, C Rosanne M Ausems, Derick G Wansink, Bé Wieringa
Myotonic dystrophy type 1 (DM1) and 2 (DM2) are autosomal dominant degenerative neuromuscular disorders characterized by progressive skeletal muscle weakness, atrophy, and myotonia with progeroid features. Although both DM1 and DM2 are characterized by skeletal muscle dysfunction and also share other clinical features, the diseases differ in the muscle groups that are affected. In DM1, distal muscles are mainly affected, whereas in DM2 problems are mostly found in proximal muscles. In addition, manifestation in DM1 is generally more severe, with possible congenital or childhood-onset of disease and prominent CNS involvement...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29891239/prevalence-and-prognostic-significance-of-pulmonary-artery-aneurysms-in-adults-with-congenital-heart-disease
#20
Pastora Gallego, María José Rodríguez-Puras, Pilar Serrano Gotarredona, Israel Valverde, Begoña Manso, Antonio González-Calle, Alejandro Adsuar, Jose M Cubero, Luis Díaz de la Llera, Antonio Ordoñez, Amir-Reza Hosseinpour
BACKGROUND: Prevalence and prognostic significance of pulmonary artery (PA) dilatation in congenital heart disease (CHD) have never been studied systematically. METHODS: Chest X-rays of 1192 consecutive adults with CHD were reviewed. Major diameter of the PA was determined by imaging techniques in those with PA dilatation. A value >29 mm was considered abnormal. Data on anatomy, hemodynamics, residual lesions and outcomes were retrospectively collected. RESULTS: Overall prevalence of PA dilatation was 18%...
June 2, 2018: International Journal of Cardiology
keyword
keyword
981
1
2
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"