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https://www.readbyqxmd.com/read/28101478/focal-epileptogenic-lesions-in-adult-patients-with-epilepsy-and-generalized-epileptiform-discharges
#1
Dong Wook Kim, Seo-Young Lee, Sang Kun Lee
BACKGROUND AND PURPOSE: There are reports of successful resective epilepsy surgery for pediatric patients with epilepsy and generalized epileptiform discharges when they had focal epileptogenic lesions identified by MRI. However, there is limited information regarding adult patients with epilepsy who have both generalized epileptiform discharges and focal epileptogenic lesions. METHODS: To investigate the incidence and characteristics of adult patients who have both generalized epileptiform discharges and potentially epileptogenic lesions, we retrospectively analyzed data of clinical features and results of EEG and MRI of all patients with adult-onset epilepsy in a tertiary referral hospital...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28100569/multiple-pregnancy-in-a-primigravida-with-uncorrected-pentalogy-of-fallot
#2
Pamela Partana, Jarrod Kah Hwee Tan, Ju Le Tan, Lay Kok Tan
Pentalogy of Fallot is a cyanotic congenital heart disease that has guarded prognosis without surgical intervention in infancy. Women with uncorrected defects rarely survive into childbearing age and pregnancy in this group is associated with a high rate of perinatal loss. Physiological cardiovascular changes in pregnancy can lead to maternal haemodynamic instability with subsequent adverse cardiac sequelae with or without fetal decompensation. Optimum management and pregnancy outcomes in mother with uncorrected Pentalogy of Fallot and twin pregnancy have not been described in the literature...
January 18, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28099057/a-provisional-experience-with-robot-assisted-soave-procedure-for-older-children-with-hirschsprung-disease-back-to-the-future
#3
Girolamo Mattioli, Luca Pio, Lorenzo Leonelli, Barbara Razore, Nicola Disma, Giovanni Montobbio, Vincenzo Jasonni, Paolo Petralia, Alessio Pini Prato
Hirschsprung disease is a congenital disease characterized by intestinal aganglionosis of various extents. Most patients are younger than 1 year of age. Though, a minority of cases can be older or even adult. Older the patient the more difficult and prolonged is the endorectal dissection required for the pull-through procedure. Longer surgery leads to longer anal dilatation and trauma with subsequent higher likelihood of continence impairment. The article aims at describing the first case series of robot-assisted Soave procedure, which was adopted as an alternative minimally invasive approach to older patients with Hirschsprung disease...
January 18, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/28097469/laparoscopic-assisted-percutaneous-endoscopic-cecostomy-lapec-in-children-and-young-adults
#4
Shifra Koyfman, Kristen Swartz, Allan M Goldstein, Kyle Staller
OBJECTIVE: We evaluated the safety and efficacy of the laparoscopic-assisted percutaneous endoscopic cecostomy (LAPEC) procedure both in children and young adults, along with review of their pre-operative motility profiles, antegrade continence enema (ACE) regimen, and postoperative complications. METHODS: This retrospective review investigated 38 patients (32 children and 6 young adults) that underwent the LAPEC procedure. Primary outcomes evaluated were success versus failure of the procedure and post-operative complications...
January 17, 2017: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/28097194/the-mystery-of-the-z-score
#5
REVIEW
Alexander E Curtis, Tanya A Smith, Bulat A Ziganshin, John A Elefteriades
Reliable methods for measuring the thoracic aorta are critical for determining treatment strategies in aneurysmal disease. Z-scores are a pragmatic alternative to raw diameter sizes commonly used in adult medicine. They are particularly valuable in the pediatric population, who undergo rapid changes in physical development. The advantage of the Z-score is its inclusion of body surface area (BSA) in determining whether an aorta is within normal size limits. Therefore, Z-scores allow us to determine whether true pathology exists, which can be challenging in growing children...
August 2016: Aorta (Stamford, Conn.)
https://www.readbyqxmd.com/read/28096324/totally-laparoscopic-liver-resection-for-colorectal-metastasis-located-in-segment-7-in-a-patient-with-situs-inversus-totalis
#6
Antonio Giuliani, Paolo Bianco, Germano Guerra, Aldo Rocca, Fulvio Calise
Situs inversus totalis (SIT) is a congenital condition consisting of a mirror image of transposition of the abdominal and thoracic organs occurring in about 1:5000 to 1:10 000 adults. We report on a 60-year-old male with a single colorectal liver metastasis in the Segment 7. The patients underwent a totally laparoscopic sub-segmentectomy. Intraoperative approach on a reverse posterior segment was difficult because of left-sided position of the liver. Postoperative course was uneventful and the patient was discharged after 5 days...
January 17, 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28096041/advance-care-planning-in-adults-with-congenital-heart-disease-a-patient-priority
#7
Lisa X Deng, Lacey P Gleason, Abigail M Khan, David Drajpuch, Stephanie Fuller, Leah A Goldberg, Christopher E Mascio, Sara L Partington, Lynda Tobin, Yuli Y Kim, Adrienne H Kovacs
BACKGROUND: Adult congenital heart disease (ACHD) patients with moderate or great defect complexity are at risk for premature death. Although early engagement in advance care planning (ACP) is recommended, previous research suggests that it seldom occurs. METHODS: This study investigated ACHD patient preferences for ACP and factors that impact preferences. ACHD patients completed an ACP preferences questionnaire, the Hospital Anxiety and Depression Scale and a measure of attachment styles...
January 4, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28095847/the-biomedical-piglet-establishing-reference-intervals-for-haematology-and-clinical-chemistry-parameters-of-two-age-groups-with-and-without-iron-supplementation
#8
Domenico Ventrella, Francesco Dondi, Francesca Barone, Federica Serafini, Alberto Elmi, Massimo Giunti, Noemi Romagnoli, Monica Forni, Maria L Bacci
BACKGROUND: The similarities between swine and humans in physiological and genomic patterns, and the great correlation in size and anatomy, make pigs extremely useful in preclinical studies. New-born piglets can represent a model for congenital and genetic diseases in new-born children. It is known that piglets may have significant differences in clinicopathological results compared to adult pigs. Therefore, adult laboratory reference intervals cannot be applied to piglets. The aim of this study was to compare haematological and chemical variables in piglets of two ages and determinate age-related reference intervals for commercial hybrid young pigs...
January 17, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28095299/african-and-asian-zika-virus-strains-differentially-induce-early-antiviral-responses-in-primary-human-astrocytes
#9
Rodolphe Hamel, Pauline Ferraris, Sineewanlaya Wichit, Fodé Diop, Loïc Talignani, Julien Pompon, Déborah Garcia, Florian Liegeois, Amadou A Sall, Hans Yssel, Dorothée Missé
ZIKA virus (ZIKV) is a newly emerging arbovirus. Since its discovery 60years ago in Uganda, it has spread throughout the Pacific, Latin America and the Caribbean, emphasizing the capacity of ZIKV to spread to non-endemic regions worldwide. Although infection with ZIKV often leads to mild disease, its recent emergence in the Americas has coincided with an increase in adults developing Guillain-Barré syndrome and neurological complications in new-borns, such as congenital microcephaly. Many questions remain unanswered regarding the complications caused by different primary isolates of ZIKV...
January 14, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28093105/comparison-of-submaximal-exercise-test-results-and-severity-of-brachycephalic-obstructive-airway-syndrome-in-english-bulldogs
#10
Liisa Lilja-Maula, Anu K Lappalainen, Heli K Hyytiäinen, Erja Kuusela, Mirja Kaimio, Kirsti Schildt, Sari Mölsä, Mikael Morelius, Minna M Rajamäki
Canine brachycephalic obstructive airway syndrome (BOAS) is a complex respiratory disease related to congenitally flattened facial and skull anatomy. BOAS causes respiratory distress, heat and exercise intolerance, and gastrointestinal signs. English bulldogs (EB) have a high prevalence of BOAS. Currently, the severity of BOAS signs in veterinary practice is assessed subjectively. To reduce BOAS in brachycephalic breeds, an objective and easy-to-use tool could help breeders select healthier animals. Exercise tests, such as the 6 min walk test (distance walked measured) or the 1000 m walk test (duration measured), could be used to assess the severity of BOAS, as exercise intolerance and impaired recovery are key features of BOAS...
January 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28092429/residents-understanding-of-adult-congenital-heart-disease
#11
Paul Cooper, Morgan Hindes, Timothy M Maul, Stephen C Cook
OBJECTIVE: Medical residents are exposed to increasing numbers of adults with congenital heart disease (ACHD). While inadequate ACHD knowledge may lead to inappropriate practice, this educational deficit has not been investigated. Our aim was to analyze residents' attitudes, perceived ability, and knowledge of ACHD medicine. DESIGN, METHODS, OUTCOME MEASURES: A single center, multiprogram cross-sectional study was conducted in 2015 using an electronic survey to assess 472 medical residents' perceived knowledge and self-assessed skills related to ACHD medicine...
January 16, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28092064/critical-congenital-heart-disease-newborn-screening-implementation-lessons-learned
#12
Monica R McClain, John S Hokanson, Regina Grazel, Kim Naarden Van Braun, Lorraine F Garg, Michelle R Morris, Kathleen Moline, Keri Urquhart, Amy Nance, Harper Randall, Marci K Sontag
Introduction The purpose of this article is to present the collective experiences of six federally-funded critical congenital heart disease (CCHD) newborn screening implementation projects to assist federal and state policy makers and public health to implement CCHD screening. Methods A qualitative assessment and summary from six demonstration project grantees and other state representatives involved in the implementation of CCHD screening programs are presented in the following areas: legislation, provider and family education, screening algorithms and interpretation, data collection and quality improvement, telemedicine, home and rural births, and neonatal intensive care unit populations...
January 16, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28091832/utility-and-safety-of-the-safesept%C3%A2-transseptal-guidewire-for-electrophysiology-studies-with-catheter-ablation-in-pediatric-and-congenital-heart-disease
#13
Joseph J Knadler, Jeffrey B Anderson, Ahmad S Chaouki, Richard J Czosek, Chad Connor, Timothy K Knilans, David S Spar
PURPOSE: The atrial transseptal procedure is used in catheter ablation of left-sided arrhythmias. Studies in adult patients have shown the SafeSept™ transseptal guidewire (SSTG) to be effective in atrial transseptal procedures. We analyzed our 5-year experience with SSTG use in pediatric and congenital heart disease patients undergoing catheter ablation. METHODS: This is a single-center retrospective analysis of patients undergoing catheter ablation from 2009 to 2014...
January 14, 2017: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/28091794/the-impact-of-liver-disorders-on-perioperative-management-of-reoperative-cardiac-surgery-a-retrospective-study-in-adult-congenital-heart-disease-patients
#14
Koko Adachi, Hiroaki Toyama, Yu Kaiho, Osamu Adachi, Hiroto Hudeta, Masanori Yamauchi
PURPOSE: We evaluated the preoperative prevalence of risk factors for liver disorders and the relationship between the liver disorders and perioperative outcomes in adult congenital heart disease (ACHD) patients. METHODS: This retrospective study included 32 ACHD patients who underwent reoperative cardiac surgery. RESULTS: Preoperatively, 38% of the study patients had risk factors, including congestive liver (CL) due to right heart failure (31%), chronic hepatitis C (HC) (22%), and both CL and HC (16%)...
January 16, 2017: Journal of Anesthesia
https://www.readbyqxmd.com/read/28087231/psychosocial-outcome-in-adult-men-born-with-hypospadias
#15
L Örtqvist, M Andersson, A Strandqvist, A Nordenström, L Frisén, G Holmdahl, A Nordenskjöld
INTRODUCTION: Hypospadias, which is a surgically treated congenital malformation of the male urethra, may have a negative impact on quality of life. This aspect has previously been subject to limited research. This study examined the long-term psychosocial outcome of a large cohort of adult males born with hypospadias. OBJECTIVE: The purpose of this case-control study was to assess a possible negative influence on the psychosocial outcome in adult males with hypospadias...
September 9, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28087052/contraceptive-practices-of-women-with-complex-congenital-heart-disease
#16
Pamela D Miner, Mary M Canobbio, Dorothy D Pearson, Mary Schlater, Yvonne Balon, Kathryn J Junge, Ami Bhatt, Deena Barber, Michelle J Nickolaus, Adrienne H Kovacs, Philip Moons, Kate Shaw, Susan M Fernandes
Understanding the contraceptive practices of women with complex congenital heart disease (CHD) and providing them individualized contraception counseling may prevent adverse events and unplanned high-risk pregnancies. Given this, we sought to examine the contraceptive practices in women with CHD, describe adverse events associated with contraceptive use, and describe the provision of contraception counseling. Women >18 years were recruited from 2011 to 2014 from 9 adult CHD (ACHD) centers throughout North America...
December 18, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/28079055/intestinal-microbiota-as-a-tetrahydrobiopterin-exogenous-source-in-hph-1-mice
#17
Jaques Belik, Yulia Shifrin, Erland Arning, Teodoro Bottiglieri, Jingyi Pan, Michelle C Daigneault, Emma Allen-Vercoe
Tetrahydrobiopterin (BH4) is a cofactor of a number of regulatory enzymes. Although there are no known BH4 exogenous sources, the tissue content of this biopterin increases with age in GTP cyclohydrolase 1-deficient hyperphenylalaninemia-1 (hph-1) mice. Since certain bacteria are known to generate BH4, we hypothesize that generation of this biopterin by the intestinal microbiota contributes to its tissue increase in hph-1 adult mice. The goal of this study was to comparatively evaluate hph-1 mice and wild-type C57Bl/6 controls for the presence of intestinal BH4-producing bacteria...
January 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28077706/connexin-mediated-signaling-in-nonsensory-cells-is-crucial-for-the-development-of-sensory-inner-hair-cells-in-the-mouse-cochlea
#18
Stuart L Johnson, Federico Ceriani, Oliver Houston, Roman Polishchuk, Elena Polishchuk, Giulia Crispino, Veronica Zorzi, Fabio Mammano, Walter Marcotti
: Mutations in the genes encoding for gap junction proteins connexin 26 (Cx26) and connexin 30 (Cx30) have been linked to syndromic and nonsyndromic hearing loss in mice and humans. The release of ATP from connexin hemichannels in cochlear nonsensory cells has been proposed to be the main trigger for action potential activity in immature sensory inner hair cells (IHCs), which is crucial for the refinement of the developing auditory circuitry. Using connexin knock-out mice, we show that IHCs fire spontaneous action potentials even in the absence of ATP-dependent intercellular Ca(2+) signaling in the nonsensory cells...
January 11, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28077471/individual-risk-stratification-in-adult-congenital-heart-disease-the-way-to-go
#19
EDITORIAL
Werner Budts
No abstract text is available yet for this article.
January 10, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28077469/risk-factors-for-excess-mortality-in-adults-with-congenital-heart-diseases
#20
Jose Maria Oliver, Pastora Gallego, Ana Elvira Gonzalez, Diego Garcia-Hamilton, Pablo Avila, Raquel Yotti, Ignacio Ferreira, Francisco Fernandez-Aviles
AIMS: To examine factors related to excess mortality in a cohort of adults with congenital heart disease (CHD). METHODS AND RESULTS: We conducted a survival analysis using prospective data of 3311 adults with CHD [50.5% males, median age at entry 22.5 years (IQR 18-39), median follow-up time 10.5 years (IQR: 4.4-18)]. Survival status of each patient was further verified by cross checking with the Spanish National Death Index. During a total follow-up of 37608 person-years, 336 (10%) patients died...
January 10, 2017: European Heart Journal
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