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https://www.readbyqxmd.com/read/28898547/hlx-is-a-candidate-gene-for-a-pattern-of-anomalies-associated-with-congenital-diaphragmatic-hernia-short-bowel-and-asplenia
#1
Sandra A Farrell, Sandi Sodhi, Christian R Marshall, Andrea Guerin, Anne Slavotinek, Tara Paton, Karen Chong, Wilma L Sirkin, Stephen W Scherer, Félix-Antoine Bérubé-Simard, Nicolas Pilon
Isolated congenital diaphragmatic hernia is often a sporadic event with a low recurrence risk. However, underlying genetic etiologies, such as chromosome anomalies or single gene disorders, are identified in a small number of individuals. We describe two fetuses with a unique pattern of multiple congenital anomalies, including diaphragmatic hernia, short bowel and asplenia, born to first-cousin parents. Whole exome sequencing showed that both were homozygous for a missense variant, c.950A>C, predicting p...
September 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28866290/immunogenicity-safety-and-reactogenicity-of-the-pneumococcal-non-typeable-haemophilus-influenzae-protein-d-conjugate-vaccine-phid-cv-in-2-17-year-old-children-with-asplenia-or-splenic-dysfunction-a-phase-3-study
#2
L Szenborn, I V Osipova, H Czajka, S M Kharit, T Jackowska, N François, M A Habib, D Borys
BACKGROUND: Immunization with pneumococcal vaccines is an important prophylactic strategy for children with asplenia or splenic dysfunction, who are at high risk of bacterial infections (including S. pneumoniae). This study aimed to assess immunogenicity and safety of pneumococcal non-typeable Haemophilus influenzae protein D conjugate vaccine (PHiD-CV, GSK) in this at-risk population. METHODS: This phase III, multi-centre, open-label, controlled study, in which at-risk children with asplenia or splenic dysfunction were enrolled (age strata: 2-4, 5-10 and 11-17years), was conducted in Poland and the Russian Federation...
September 25, 2017: Vaccine
https://www.readbyqxmd.com/read/28858039/fulminant-haemophilus-influenzae-type-a-infection-in-a-4-year-old-with-previously-undiagnosed-asplenic-heterotaxy
#3
Andrew Headrick, Erinn O Schmit, David W Kimberlin
The post Hib-vaccine era has resulted in increased cases of invasive, non-Hib, Haemophilus influenzae infections. One of the encapsulated species, type a, displays the most similarity in virulence to type b. Our patient, a fully-vaccinated four-year-old female, with newly diagnosed asplenia in the setting of heterotaxy, had a prolonged hospital course with disseminated Haemophilus influenzae type a infection.
August 26, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28840769/a-rare-case-of-isolated-congenital-asplenia-presenting-in-septic-shock-howell-jolly-bodies-a-clue-to-early-diagnosis
#4
Pradeep Bangalore Prakash, Sook-Kyung C Kwon, Aditya Badheka, Veerajalandhar Allareddy
No abstract text is available yet for this article.
August 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28809063/color-and-power-doppler-combined-with-fetal-intelligent-navigation-echocardiography-fine-to-evaluate-the-fetal-heart
#5
L Yeo, R Romero
OBJECTIVE: To evaluate the performance of color and bidirectional power Doppler ultrasound combined with Fetal Intelligent Navigation Echocardiography (FINE) in examining the fetal heart. METHODS: A prospective cohort study was conducted of fetuses in the second and third trimesters with a normal heart or with congenital heart disease (CHD). One or more spatiotemporal image correlation (STIC) volume datasets, combined with color or bidirectional power Doppler (S-flow) imaging, were acquired in the apical four-chamber view...
August 14, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28741863/development-of-quality-metrics-for-ambulatory-pediatric-cardiology-infection-prevention
#6
Jonathan N Johnson, Cindy S Barrett, Wayne H Franklin, Eric M Graham, Nancy J Halnon, Brandy A Hattendorf, Catherine D Krawczeski, James J McGovern, Matthew J O'Connor, Amy H Schultz, Jeffrey M Vinocur, Devyani Chowdhury, Jeffrey B Anderson
INTRODUCTION: In 2012, the American College of Cardiology's (ACC) Adult Congenital and Pediatric Cardiology Council established a program to develop quality metrics to guide ambulatory practices for pediatric cardiology. The council chose five areas on which to focus their efforts; chest pain, Kawasaki Disease, tetralogy of Fallot, transposition of the great arteries after arterial switch, and infection prevention. Here, we sought to describe the process, evaluation, and results of the Infection Prevention Committee's metric design process...
July 25, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28722598/risk-factors-for-severe-infection-hospitalization-and-prolonged-antimicrobial-therapy-in-patients-with-babesiosis
#7
Neeharik Mareedu, Anna M Schotthoefer, Jason Tompkins, Matthew C Hall, Thomas R Fritsche, Holly M Frost
Babesiosis is an emerging tick-borne disease transmitted by the hard tick Ixodes scapularis, which also transmits Lyme disease. Better gradation of prognostic indicators are needed to determine which patients may develop serious complications requiring hospitalization, and to provide early guidance on appropriate therapy. In this study, we evaluated 128 patients with smear or real time polymerase chain reaction-confirmed Babesia microti infections over a period of 16 years. Patients with asplenia or immunocompromising conditions were more likely to have severe infection (P < 0...
July 10, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28722321/postsplenectomy-vaccination-guideline-adherence-opportunities-for-improvement
#8
Ruth M Carrico, Linda Goss, Jodi Wojcik, Kimberly Broughton-Miller, Karina Pentecost, Michelle Frisbie, Stanley Kotey, Deborah Niyongabo, Matthew Benns, Anupama Raghuram, M Cynthia Logsdon
BACKGROUND AND PURPOSE: Patients undergoing splenectomy for trauma are at life-long risk for rapidly progressive septicemia. The purpose of this study was to investigate long-term patient understanding and follow-up with recommendations regarding their asplenia. METHODS: Patients undergoing splenectomy for trauma January 2010-December 2014 were analyzed. Medical records were reviewed and telephone follow-up interviews were conducted in October-December 2015. Patients were asked a standard set of questions that included hospitalizations, awareness of infectious risks associated with asplenia, need for revaccination, and vaccines they had received since their index hospitalization...
July 19, 2017: Journal of the American Association of Nurse Practitioners
https://www.readbyqxmd.com/read/28682152/natural-igm-antibodies-in-the-immune-defence-against-neoehrlichiosis
#9
Christine Wennerås, David Goldblatt, Marta Zancolli, Mattias Mattsson, Linda Wass, Sohvi Hörkkö, Anders Rosén
BACKGROUND: Neoehrlichiosis is an infectious disease caused by the tick-borne bacterium "Candidatus Neoehrlichia mikurensis". Splenectomy and rituximab therapies are risk factors for severe neoehrlichiosis. Our aim was to examine if neoehrlichiosis patients had low levels of natural IgM antibodies and/or were hypogammaglobulinemic, and if such deficiencies were associated with asplenia and vascular complications. METHODS: Neoehrlichiosis patients (n = 9) and control subjects (n = 10) were investigated for serum levels of IgG, IgA, and IgM, and for levels of natural IgM antibodies to pneumococcal polysaccharides (6B, 14), and to the malondialdehyde acetaldehyde epitope of oxidized LDL...
July 6, 2017: Infectious Diseases
https://www.readbyqxmd.com/read/28662648/prevalence-of-high-medium-and-low-risk-medical-conditions-for-pneumococcal-vaccination-in-catalonian-middle-aged-and-older-adults-a-population-based-study
#10
O Ochoa-Gondar, I Hospital, A Vila-Corcoles, M Aragon, M Jariod, C de Diego, E Satue
BACKGROUND: Updated population-based data on the frequency and distribution of risk factors for pneumococcal disease is scarce. This study investigated the prevalence of distinct comorbidities and underlying risk conditions related to an increasing risk of pneumococcal disease among Catalonian middle-aged and older adults. METHODS: Cross-sectional population-based study including 2,033,465 individuals aged 50 years or older registered at 01/01/2015 in the Catalonian Health Institute (Catalonia, Spain)...
June 29, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28659372/fever-and-asplenia-a-dangerous-association
#11
Halil Yildiz, Jean Cyr Yombi
No abstract text is available yet for this article.
June 28, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28631052/anatomic-variations-of-the-spleen-current-state-of-terminology-classification-and-embryological-background
#12
REVIEW
Ivan Varga, Jozef Babala, David Kachlik
A thorough understanding of the anatomy, physiology, and development of the spleen is essential for determining the pathophysiological mechanisms underpinning splenic diseases and congenital variations. The aim of this review is to briefly summarize current knowledge regarding the normal development of the spleen, and to provide an overview of clinically relevant congenital splenic variations. These include such variations as asplenia, polysplenia, hyposplenia, lobulation of spleen, accessory spleens, accessory splenic nodules, wandering spleen, splenogonadal and splenopancreatic fusion, splenic cysts, and cavernous haemangioma of the spleen...
June 19, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28624464/complex-phenotypes-associated-with-stim1-mutations-in-both-coiled-coil-and-ef-hand-domains
#13
Elizabeth Harris, Umar Burki, Chiara Marini-Bettolo, Marcella Neri, Chiara Scotton, Judith Hudson, Marta Bertoli, Teresinha Evangelista, Bas Vroling, Tuomo Polvikoski, Mark Roberts, Ana Töpf, Kate Bushby, Daniel McArthur, Hanns Lochmüller, Alessandra Ferlini, Volker Straub, Rita Barresi
Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York platelet syndrome. Previous reports have suggested a genotype-phenotype correlation with mutations in the N-terminal EF-hand domain associated with tubular aggregate myopathy, and a common mutation at p.R304W in a coiled coil domain associated with Stormorken syndrome...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28473921/incidentally-detected-asplenia-in-a-healthy-64-year-old-female-live-kidney-donor
#14
Leoniek D Wolff, Mijntje N Nijboer, Jacqueline Vd Wetering, Frank J M F Dor
Heterotaxia syndromes are rare birth defects which can result in developmental malformations. A 64-year-old woman presented to the hospital for preoperative screening for kidney donation; during which she was found to have no gallbladder and no spleen, without any signs of surgical removal. This could be a new description of a heterotaxia syndrome.
April 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28422834/feasibility-and-safety-of-emergency-laparoscopic-partial-splenectomy-a-retrospective-analysis
#15
Hongyu Li, Yonggang Wei, Bing Peng, Bo Li, Fei Liu
The increased awareness of asplenia-related life-threatening complications has led to the development of parenchyma sparing splenic resections in past few years. The aim of this study is to retrospectively analyze the feasibility and safety of laparoscopic partial splenectomy (LPS) in selected emergency patients.From January 2013 to December 2015, there were 46 emergency patients, diagnosed with splenic rupture, admitted in our department. Selection criteria for LPS: (1) Preoperative CT scan revealed single pole rupture without spleen pedicle injury; (2) BP>90/60 mm Hg and heart rates <120 bpm; (3) No sigh of multiple organ injury...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28410813/post-hoc-analysis-of-a-randomized-controlled-trial-diabetes-mellitus-modifies-the-efficacy-of-the-13-valent-pneumococcal-conjugate-vaccine-in-elderly
#16
Susanne M Huijts, Cornelis H van Werkhoven, Marieke Bolkenbaas, Diederick E Grobbee, Marc J M Bonten
BACKGROUND: The 13-valent pneumococcal conjugate-vaccine (PCV13) was effective in preventing vaccine-type Community-Acquired Pneumonia (VT-CAP) and Invasive Pneumococcal Disease (VT-IPD) in elderly subjects, but vaccine efficacy (VE) in patients with comorbidities at time of vaccination is unknown. METHODS: This is a post hoc analysis of the CAPiTA study, a double blind, randomized controlled trial with 84,496 immunocompetent participants aged ⩾65years, receiving PCV13 or placebo vaccination...
April 12, 2017: Vaccine
https://www.readbyqxmd.com/read/28329282/possible-transfusion-transmitted-babesia-divergens-like-mo-1-infection-in-an-arkansas-patient
#17
Mary J Burgess, Eric R Rosenbaum, Bobbi S Pritt, Dirk T Haselow, Katie M Ferren, Bashar N Alzghoul, Juan Carlos Rico, Lynne M Sloan, Poornima Ramanan, Raghunandan Purushothaman, Robert W Bradsher
A patient with asplenia and multiple red blood cell transfusions acquired babesiosis infection with Babesia divergens-like/MO-1 organisms and not Babesia microti, the common United States species. He had no known tick exposure. This is believed to be the first transfusion-transmitted case and the fifth documented case of B. divergens-like/MO-1 infection.
June 1, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28213046/splenectomy-as-a-destination-improving-quality-of-care-among-asplenic-veterans-through-a-travel-clinic
#18
Aaron P Mitchell, Joel C Boggan, Karen Lau, David L Simel
BACKGROUND: Asplenic patients are at risk for severe infections, but adherence to recommended preventive education and vaccination is poor. The goal of this study was to demonstrate that a targeted intervention can improve vaccination rates in a population of asplenic veterans. METHODS: Surgically asplenic patients actively receiving care in our health care system were identified via a database search. Patients were contacted via mailed letters and encouraged to attend an existing travel clinic with a new process designed for asplenic patients...
July 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28069783/secondary-asplenia-as-a-complication-of-severe-meningococcal-sepsis
#19
Lourdes Castillo-Campos, Luis Bachiller-Carnicero, María José Megía-Sevilla, María Isabel González-Tomé
We report the case of an 11-month-old infant who had a medical history of meningococcal septicaemia 6 months prior to this admission and presented to hospital with an episode of fever due to Streptococcus pneumoniae bacteraemia. During this second admission, an abdominal ultrasound scan revealed secondary asplenia.
January 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28032338/sf1-and-spleen-development-new-heterozygous-mutation-literature-review-and-consequences-for-nr5a1-mutated-patient-s-management
#20
C Colson, E Aubry, M Cartigny, A-A Rémy, H Franquet, X Leroy, G Kéchid, C Lefèvre, R Besson, M Cools, A F Spinoit, C Sultan, S Manouvrier, P Philibert, J Ghoumid
Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous non-sense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia...
December 29, 2016: Clinical Genetics
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