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https://www.readbyqxmd.com/read/29232296/morbid-obesity-does-not-increase-morbidity-or-mortality-in-robotic-cardiac-surgery
#1
Hiroto Kitahara, Brooke Patel, Mackenzie McCrorey, Sarah Nisivaco, Husam H Balkhy
OBJECTIVE: Morbid obesity (body mass index ≥ 35 kg/m) usually confers a higher perioperative risk in cardiac surgery. Robotic cardiac surgery may have many advantages for these high-risk patients. METHODS: We retrospectively reviewed patients undergoing robotic cardiac surgery from July 2013 to April 2017 at our institution. We compared the outcomes of morbidly obese patients versus nonobese patients. RESULTS: A total of 486 patients underwent robotic cardiac surgery (322 men, median age = 65 years)...
December 7, 2017: Innovations: Technology and Techniques in Cardiothoracic and Vascular Surgery
https://www.readbyqxmd.com/read/29230040/congenital-embryonal-rhabdomyosarcoma-caused-by-heterozygous-concomitant-ptch1-and-ptch2-germline-mutations
#2
Julia Taeubner, Triantafyllia Brozou, Nan Qin, Jasmin Bartl, Sebastian Ginzel, Joerg Schaper, Joerg Felsberg, Simone Fulda, Christian Vokuhl, Arndt Borkhardt, Michaela Kuhlen
The sonic hedgehog (SHH) signaling pathway has been shown to play important roles in embryogenesis, cell proliferation as well as in cell differentiation. It is aberrantly activated in various common cancers in adults, but also in pediatric neoplasms, such as rhabdomyosarcoma (RMS) and atypical teratoid/rhabdoid tumors (AT/RTs). Dysregulation and germline mutation in PATCHED1 (PTCH1), a receptor for SHH, is responsible for the Gorlin Syndrome, a familial cancer predisposing syndrome including RMS. Here, we report a newborn diagnosed with congenital embryonal RMS...
December 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29229372/invasive-and-noninvasive-hemodynamic-assessment-in-adults-with-fontan-palliation
#3
Alexander C Egbe, Heidi M Connolly, Nathaniel W Taggart, Mohamad Al-Otaibi, Barry A Borlaug
BACKGROUND/OBJECTIVES: Although echocardiographic-Doppler cardiac index (CI) assessment is widely used to guide heart failure management in patients with biventricular circulation, this application has not been studied in the Fontan population. The objective of this study was to: (1) determine the correlation between Doppler and cardiac catheterization CI calculation; (2) determine the association between Doppler CI and the occurrence of Fontan failure. METHODS: Retrospective review of adult Fontan patients followed at Mayo Clinic Adult Congenital Heart Disease program, 1994-2015...
December 5, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29229171/special-considerations-in-pediatric-kidney-transplantation
#4
REVIEW
Sean A Hebert, Rita D Swinford, David R Hall, Jason K Au, John S Bynon
Universally accepted as the treatment of choice for children needing renal replacement therapy, kidney transplantation affords children the opportunity for an improved quality of life over dialysis therapy. Immunologic and surgical advances over the last 15 years have improved the pediatric patient and kidney graft survival. Unique to pediatrics, congenital genitourinary anomalies are the most common primary diseases leading to kidney failure, many with urological issues. Early urological evaluation for post-transplant bladder dysfunction and emphasis on immunization adherence are the mainstays of pediatric pretransplant and post-transplant evaluations...
November 2017: Advances in Chronic Kidney Disease
https://www.readbyqxmd.com/read/29229166/holding-water-congenital-anomalies-of-the-kidney-and-urinary-tract-ckd-and-the-ongoing-role-of-excellence-in-plumbing
#5
REVIEW
Lars J Cisek
Congenital anomalies of the kidneys and urinary tracts can result in diminished natal kidney function, possibly through common embryologic pathway disruption or as a result of development taking place in the face of disordered 'post-renal' drainage. Impaired conduit and reservoir function present potential for an ongoing assault leading to further deterioration and progression of chronic kidney disease, a risk that extends to adults with these conditions, even after "correction". The drainage and storage aspects of the urinary system that can impact kidney function are reviewed with attention to correctable or manageable problems including: Bladder dysfunction wherein the low pressure storage of urine is compromised requiring the kidney to work against a pressure gradient, the classic post renal failure problem...
November 2017: Advances in Chronic Kidney Disease
https://www.readbyqxmd.com/read/29228023/task-demands-affect-spatial-reference-frame-weighting-during-tactile-localization-in-sighted-and-congenitally-blind-adults
#6
Jonathan T W Schubert, Stephanie Badde, Brigitte Röder, Tobias Heed
Task demands modulate tactile localization in sighted humans, presumably through weight adjustments in the spatial integration of anatomical, skin-based, and external, posture-based information. In contrast, previous studies have suggested that congenitally blind humans, by default, refrain from automatic spatial integration and localize touch using only skin-based information. Here, sighted and congenitally blind participants localized tactile targets on the palm or back of one hand, while ignoring simultaneous tactile distractors at congruent or incongruent locations on the other hand...
2017: PloS One
https://www.readbyqxmd.com/read/29227690/effect-of-the-induction-of-transgenerational-obesity-on-maternal-fetal-parameters
#7
Thaigra Sousa Soares, Ana Paula Andreolla, Carolina Abreu Miranda, Eduardo Klöppel, Luhara Silva Rodrigues, Rafaianne Queiroz Moraes-Souza, Débora Cristina Damasceno, Gustavo Tadeu Volpato, Kleber Eduardo Campos
Maternal obesity can cause complications for both women and their offspring for generations. Therefore, we intended to verify the repercussions of induction of transgenerational obesity on biochemical parameters, reproductive performance, and congenital anomaly frequency in Wistar rats. Female rats were used from successive generations. The female rats of parental generation (F0, n=10) were mated to obtain their offspring (F1 generation). F1 female rats received a monosodium glutamate (MSG) solution to induce obesity (n=07) or vehicle (control, n=06) during the neonatal period...
December 11, 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29227363/psychosocial-factors-and-surgical-outcomes-in-adult-spinal-deformity-do-dementia-patients-have-more-complications
#8
Courtney S Toombs, Justin C Paul, Baron S Lonner
STUDY DESIGN: Retrospective analysis of a prospectively collected, national inpatient hospital database. OBJECTIVE: We aimed to investigate comorbid psychiatric disorders in the ASD population. We hypothesized that a high incidence of comorbid psychiatric disorders in ASD would negatively impact perioperative outcomes. SUMMARY OF BACKGROUND DATA: Adult spinal fusion (ASF) patients suffer from severe back pain and often depression. Psychiatric comorbidities in the adult spinal deformity (ASD) population are not well understood, despite the apparent psychological effects of spinal deformity-related self-image...
December 8, 2017: Spine
https://www.readbyqxmd.com/read/29226042/direct-insertion-of-the-papillary-muscle-into-the-anterior-mitral-leaflet-cadaveric-findings
#9
Sarvenaz Sheikh, Joe Iwanaga, Jocelyn R Gonzales, Tsuyoshi Saga, Marios Loukas, Rod J Oskouian, R Shane Tubbs
Direct insertion of the anterior papillary muscle (DPM) into the mitral valve is uncommon. During the routine dissection of an adult female, a DPM into the mitral valve with abnormal chordae tendinae was observed. This abnormal papillary muscle was measured as 28.0 mm in length from myocardial to insertion, 14.8 mm in width, and 7.0 mm in depth. The embryology, symptoms, associated cardiac diseases, and surgical precautions of this congenital malformation in the heart are reviewed.
October 5, 2017: Curēus
https://www.readbyqxmd.com/read/29224925/incidence-and-clinical-characteristics-of-sudden-cardiac-death-in-adult-congenital-heart-disease
#10
Benjamin Moore, Christopher Yu, Irina Kotchetkova, Rachael Cordina, David S Celermajer
BACKGROUND: The life expectancy of adults with congenital heart disease (CHD) has significantly improved in recent decades, with non-cardiovascular causes of death now competing with traditional cardiovascular causes. The risk of sudden cardiac death (SCD), a devastating event, still remains elevated above that of the general population. METHODS: We reviewed 2935 patients in our adult CHD database (age≥16years, seen at least once in our centre) and documented all cases of SCD between 2000-2015...
December 5, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29224189/acute-loss-of-adipose-tissue-derived-adiponectin-triggers-immediate-metabolic-deterioration-in-mice
#11
Jonathan Y Xia, Kai Sun, Chelsea Hepler, Alexandra L Ghaben, Rana K Gupta, Yu A An, William L Holland, Thomas S Morley, Andrew C Adams, Ruth Gordillo, Christine M Kusminski, Philipp E Scherer
AIM/HYPOTHESIS: Adiponectin (APN), a circulating hormone secreted by mature adipocytes, has been extensively studied because it has beneficial metabolic effects. While many studies have focused on the congenital loss of APN and its effects on systemic body glucose and lipid metabolism, little is known about the effects triggered by acute loss of APN in the adult mouse. We anticipated that genetically induced acute depletion of APN in adult mice would have a more profound effect on systemic metabolic health than congenital deletion of Adipoq, the gene encoding APN, with its associated potential for adaptive responses that may mask the phenotypes...
December 9, 2017: Diabetologia
https://www.readbyqxmd.com/read/29222262/pediatric-leukemia-susceptibility-disorders-manifestations-and-management
#12
REVIEW
Lisa J McReynolds, Sharon A Savage
The clinical manifestations of inherited susceptibility to leukemia encompass a wide phenotypic range, including patients with certain congenital anomalies or early-onset myelodysplastic syndrome (MDS) and some with no obvious medical problems until they develop leukemia. Leukemia susceptibility syndromes occur as a result of autosomal dominant, autosomal recessive, or X-linked recessive inheritance, or de novo occurrence, of germline pathogenic variants in DNA repair, ribosome biogenesis, telomere biology, hematopoietic transcription factors, tumor suppressors, and other critical cellular processes...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222240/old-and-new-tools-in-the-clinical-diagnosis-of-inherited-bone-marrow-failure-syndromes
#13
REVIEW
Allison H West, Jane E Churpek
Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and/or other physical features that are often recognizable early in life. However, increasing application of genomic sequencing and clinical awareness of subtle disease presentations have led to the recognition of IBMFS in pediatric and adult populations more frequently than previously realized, such as those with early onset myelodysplastic syndrome (MDS). Given the well-defined differences in clinical management needs and outcomes for aplastic anemia, acute myeloid leukemia, and MDS in patients with an IBMFS vs those occurring sporadically, as well as nonhematologic comorbidities in patients with IBMFSs, it is critical for hematologists to understand how to approach screening for the currently known IBMFSs...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29221426/enterogenous-cyst-of-the-small-bowel-mesentery-a-case-report-and-review-of-the-literature
#14
Donatas Danys, Raminta Martinaitytė, Jolanta Zacharic, Eligijus Poskus, Edvardas Zurauskas, Tomas Poskus, Kęstutis Strupas
INTRODUCTION: Enterogenous cysts are a very rare congenital abnormality that can be found anywhere within the gastrointestinal tract, most commonly in the small intestine. The incidence is approximately one in 4500-10,000 live births. Diagnosis can be suggested by ultrasound (US), computed tomography (CT) scans or magnetic resonance imaging (MRI) findings, although histological examination confirms the definitive diagnosis. PATIENTS: We present a case of enterogenous cyst in an adult female who underwent a resection of the tumour...
December 8, 2017: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/29219173/parenting-stress-anxiety-and-depression-in-mothers-with-visually-impaired-infants-a-cross-sectional-and-longitudinal-cohort-analysis
#15
Elena Sakkalou, Hanna Sakki, Michelle A O'reilly, Alison T Salt, Naomi J Dale
AIM: This study examined cross-sectional and longitudinal patterns of parenting stress, adult anxiety, and depression in mothers of children with profound or severe visual impairment (PVI or SVI) at 1 year and 2 years of age. METHOD: Mothers of a national longitudinal cohort (OPTIMUM Project) of infants with congenital disorders of the peripheral visual system and PVI (light perception at best) or SVI (basic 'form' vision of non-light reflecting objects) participated...
December 8, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29218291/congenital-bilateral-multiple-trigger-fingers-in-a-5-year-old-child
#16
Neeraj Bhaban, Maksud Devale, Amarnath Munoli
Paediatric bilateral multiple trigger fingers are extremely rare. The underlying etiopathogenesis and hence the surgical principles of management of trigger finger in children are different from those of pediatric trigger thumb and adult trigger finger. In this paper, we report the case of a 5 year old girl with congenital trigger digits involving the middle, ring and little fingers of both hands. She did not have any episode of trauma, viral or bacterial infections or any metabolic disorder. Following lack of any improvement with a physiotherapy and a splintage regime for 6 weeks, we offered surgical management for the affected digits...
September 2017: World Journal of Plastic Surgery
https://www.readbyqxmd.com/read/29217376/safety-tolerability-and-immunogenicity-of-two-zika-virus-dna-vaccine-candidates-in-healthy-adults-randomised-open-label-phase-1-clinical-trials
#17
Martin R Gaudinski, Katherine V Houser, Kaitlyn M Morabito, Zonghui Hu, Galina Yamshchikov, Ro Shauna Rothwell, Nina Berkowitz, Floreliz Mendoza, Jamie G Saunders, Laura Novik, Cynthia S Hendel, LaSonji A Holman, Ingelise J Gordon, Josephine H Cox, Srilatha Edupuganti, Monica A McArthur, Nadine G Rouphael, Kirsten E Lyke, Ginny E Cummings, Sandra Sitar, Robert T Bailer, Bryant M Foreman, Katherine Burgomaster, Rebecca S Pelc, David N Gordon, Christina R DeMaso, Kimberly A Dowd, Carolyn Laurencot, Richard M Schwartz, John R Mascola, Barney S Graham, Theodore C Pierson, Julie E Ledgerwood, Grace L Chen
BACKGROUND: The Zika virus epidemic and associated congenital infections have prompted rapid vaccine development. We assessed two new DNA vaccines expressing premembrane and envelope Zika virus structural proteins. METHODS: We did two phase 1, randomised, open-label trials involving healthy adult volunteers. The VRC 319 trial, done in three centres, assessed plasmid VRC5288 (Zika virus and Japanese encephalitis virus chimera), and the VRC 320, done in one centre, assessed plasmid VRC5283 (wild-type Zika virus)...
December 4, 2017: Lancet
https://www.readbyqxmd.com/read/29213133/plasma-metabolomic-profile-varies-with-glucocorticoid-dose-in-patients-with-congenital-adrenal-hyperplasia
#18
Mohammad A Alwashih, David G Watson, Ruth Andrew, Roland H Stimson, Manal Alossaimi, Gavin Blackburn, Brian R Walker
Glucocorticoid replacement therapy is the mainstay of treatment for congenital adrenal hyperplasia (CAH) but has a narrow therapeutic index and dose optimisation is challenging. Metabolomic profiling was carried out on plasma samples from 117 adults with 21-hydroxylase deficiency receiving their usual glucocorticoid replacement therapy who were part of the CaHASE study. Samples were profiled by using hydrophilic interaction chromatography with high resolution mass spectrometry. The patients were also profiled using nine routine clinical measures...
December 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29210952/survey-of-the-american-neurotology-society-on-cochlear-implantation-part-1-candidacy-assessment-and-expanding-indications
#19
Matthew L Carlson, Douglas P Sladen, Richard K Gurgel, Nicole M Tombers, Christine M Lohse, Colin L Driscoll
OBJECTIVE: To examine practice variance of cochlear implant candidacy assessment and off-label indications across centers in the United States. METHODS: Cross-sectional survey of the American Neurotology Society (ANS). RESULTS: A total of 81 surveys were returned from ANS members who report regular involvement in cochlear implant care. Overall there was a broad distribution in age and clinical experience, with most respondents reporting ACGME accreditation in neurotology and employment at an academic center...
November 28, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29209940/epidemiological-changes-in-rubella-igg-antibody-levels-detected-in-antenatal-women-from-a-retrospective-rubella-seroprevalence-study
#20
Ciara O'Connor, David Le Blanc, Richard J Drew
BACKGROUND: Rubella is caused by the rubella virus, a single-stranded RNA virus of the Togaviridae family. The most severe complications of rubella in adult women occur during pregnancy when infection can lead to miscarriage, stillbirth or congenital rubella syndrome. Antenatal rubella susceptibility screening is no longer performed in England, Scotland or Wales but continues in Northern Ireland. AIM: The aims of this seroprevalence study were to (1) determine amongst women presenting for antenatal care the percentage of women who are rubella susceptible, rubella immune and those with equivocal rubella antibody levels by year of birth and (2) to consider how rubella vaccination resources can best be utilised...
December 5, 2017: Irish Journal of Medical Science
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