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111.
Matthew P. Giannetti Emily Weller Concetta Bormans Peter Novak Matthew J. Hamilton Mariana Castells 《Annals of allergy, asthma & immunology》2021,126(6):655-660
BackgroundHereditary alpha-tryptasemia (HαT) is an autosomal dominant genetic trait characterized by multiple copies of the alpha-tryptase gene at the TPSAB1 locus. Previously described symptomatology involves multiple organ systems and anaphylaxis. The spectrum of mast cell activation symptoms is unknown, as is its association with specific genotypes.ObjectiveTo describe clinical, laboratory, and genetic characteristics of patients referred for the evaluation of mast cell activation–related symptoms and genotype-confirmed HαT.MethodsWe retrospectively describe clinical characteristics, baseline tryptase, and tryptase genotype in 101 patients. Patients were referred for mast cell activation–related symptoms and underwent genotyping to confirm diagnosis of HαT.ResultsOf 101 patients, 80% were female with average tryptase of 17.2 ng/mL. Tryptase was less than 11.4 ng/mL in 8.9% and greater than 20 ng/mL in 22.3% (range 6.2-51.3 ng/mL). KIT D816V mutation was negative in all subjects tested. 2α:3β was the most common genotype but did not correlate with tryptase levels. Unprovoked anaphylaxis was noted in 57% of the subjects with heterogeneous genotypes. Most common symptoms include gastrointestinal, cutaneous, psychiatric, pulmonary, cardiovascular, and neurologic. A total of 85% of patients were taking H1- or H2-antihistamines with partial symptom relief. Omalizumab was effective at suppressing anaphylaxis or urticaria in 94% of the patients.ConclusionHαT encompasses a broad range of baseline tryptase and should be considered in patients with symptoms of mast cell activation and tryptase levels greater than 6.2 ng/mL. Patients may present with complex symptomatology including cutaneous, gastrointestinal, neurologic, and psychiatric symptoms and anaphylaxis, some of which respond to omalizumab. 相似文献
112.
Multicenter Evaluation of the BACTEC MGIT 960 System for Recovery of Mycobacteria 总被引:12,自引:14,他引:12 下载免费PDF全文
Bruce A. Hanna Adeleh Ebrahimzadeh L. Bruce Elliott Margie A. Morgan Susan M. Novak Sabine Rusch-Gerdes Millie Acio Denise F. Dunbar T. Michele Holmes Charles H. Rexer Chiminyan Savthyakumar Ann M. Vannier 《Journal of clinical microbiology》1999,37(3):748-752
We evaluated the BACTEC MGIT 960 system, which is a fully automated, noninvasive system for the growth and detection of mycobacteria with a capacity to incubate and continuously monitor 960 7-ml culture tubes. We studied 3,330 specimens, 2,210 respiratory and 1,120 nonrespiratory specimens, collected from 2,346 patients treated at six sites. Processed specimens were inoculated into the BACTEC MGIT 960 and BACTEC 460 TB systems, as well as onto Lowenstein-Jensen slants and Middlebrook 7H11/7H11 selective plates. From all culture systems, a total of 362 isolates of mycobacteria were recovered; these were recovered from 353 specimens collected from 247 patients. The greatest number of isolates of mycobacteria (289, or 80% of the 362 isolates) was recovered with the BACTEC MGIT 960, followed by the BACTEC 460 TB (271, or 75%) and solid media (250, or 69%). From all culture systems a total of 132 isolates of Mycobacterium tuberculosis complex were recovered. The greatest number of isolates of M. tuberculosis complex was recovered when liquid medium was combined with conventional solid media; the number recovered with BACTEC 460 TB plus solid media was 128 (97%), that recovered with BACTEC MGIT 960 plus solid media was 121 (92%), that recovered with BACTEC 460 TB was 119 (90%) and that recovered with all solid media combined was 105 (79%). The recovery with BACTEC MGIT 960 alone was 102 (77%). The mean times to detection (TTD) for M. tuberculosis complex were 14.4 days for BACTEC MGIT, 15.2 days for BACTEC 460 TB, and 24.1 days for solid media. The numbers of isolates of Mycobacterium avium complex (MAC) recovered were 172 (100%) for all systems, 147 (85%) for BACTEC MGIT 960, 123 (72%) for BACTEC 460 TB, and 106 (62%) for all solid media combined. The TTD for MAC in each system were 10.0 days for BACTEC MGIT 960, 10.4 days for BACTEC 460 TB, and 25.9 days for solid media. Breakthrough contamination rates (percentages of isolates) for each of the systems were 8.1% for BACTEC MGIT 960, 4.9% for BACTEC 460 TB, and 21.1% for all solid media combined. 相似文献
113.
Response of monocytes exposed to phagocytosable particles and discs of comparable surface roughness 总被引:2,自引:0,他引:2
This in vitro study characterized the temporal cytokine expression profile from human monocytes exposed to phagocytosable Ti particles (0.78+/-0.12 microm) and to Ti discs of comparable surface roughness. Human THP-1 monocytes were cultured in six well tissue culture polystyrene (TCPS) plates. Each well was either bare, contained Ti particles (the particles were clearly engulfed by the monocytes), or contained a Ti disc. Half of the wells were treated with 1 microg/mL lipopolysaccharide (LPS), while the other half were left unstimulated. Unstimulated and LPS-stimulated cells in bare wells were the negative and positive controls, respectively. Supernatant was sampled from each well at 1, 6, 24, 48, and 72 h and assayed for the expression of nine different cytokines using a Luminex system. Three cytokines (IL-1beta, GM-CSF and IL-13) gave little to no response under all conditions, while six cytokines (TNF-alpha, IL-6, MIP-1alpha, MCP-1, VEGF, and IL-1ra) were clearly detectable. Expression levels generally increased with culture time, particle concentration, and LPS stimulation. Most significantly, it was found that cells treated by Ti discs produced in many instances a higher cytokine expression than did particles. 相似文献
114.
Landon Wark David Novak Nelly Sabbaghian Lilian Amrein Jaganmohan R. Jangamreddy Mary Cheang Carly Pouchet Raquel Aloyz William D. Foulkes Sabine Mai Marc Tischkowitz 《Genes, chromosomes & cancer》2013,52(5):480-494
PALB2/FANCN is a BRCA1‐ and BRCA2‐interacting Fanconi Anemia (FA) protein crucial for key BRCA2 genome caretaker functions. Heterozygous germline mutations in PALB2 predispose to breast cancer and biallelic mutations cause FA. FA proteins play a critical role in the telomere maintenance pathway, with telomeric shortening observed in FA cells. Less is known about telomere maintenance in the heterozygous state. Here, we investigate the roles of PALB2 heterozygous mutations in genomic instability, an important carcinogenesis precursor. Patient‐derived lymphoblastoid (LCL) and fibroblast (FCL) cell lines with monoallelic truncating PALB2 mutations were investigated using a combination of molecular imaging techniques including centromeric FISH, telomeric Q‐FISH and spectral karyotyping (SKY). Mitomycin C and Cisplatin sensitivity was assayed via cellular metabolism of WST‐1. The PALB2 c.229delT FCL showed increases in telomere counts associated with increased mean intensity compared with two wild‐type FCLs generated from first‐degree relatives (P =1.04E‐10 and P =9.68E‐15) and it showed evidence of chromosomal rearrangements. Significant differences in centromere distribution were observed in one of three PALB2 heterozygous FCLs analyzed when compared with PALB2 wild‐type, BRCA1 and BRCA2 heterozygous FCLs. No significant consistently increased sensitivity to Mitomycin C or Cisplatin was observed in LCLs. Our results are suggestive of an altered centromere distribution profile and a telomere instability phenotype. Together, these may indicate critical nuclear organization defects associated with the predisposition to transformation and early stage development of PALB2‐related cancers. © 2013 Wiley Periodicals, Inc. 相似文献
115.
tefan Grosek Rok Ku
an Jon Groelj Miha Oraem Urh Groelj Vanja Er
ulj Jaro Lajovic Bla Ivanc Milivoje Novak Larisa Prpi Massari Suzana Mimica Matanovi Vesna erfalvi Julije Metrovi Ana Borove
ki 《Croatian medical journal》2021,62(2):120
AimTo assess the differences in the way how Slovenian and Croatian health care professionals (HCPs) confront ethical dilemmas and perceive the role of hospital ethics committees (HECs).MethodsThis cross-sectional, survey-based study involved HCPs from three Slovenian and five Croatian university medical centers (UMC). The final sample sizes were 308 (244 or 79.2% women) for Slovenia and 485 (398 or 82.1% women) for Croatia.ResultsCompared with Croatian physicians, Slovenian physicians reported a higher share of ethical dilemmas regarding waiting periods for diagnostics or treatment, suboptimal working conditions due to interpersonal relationships in the ward, and end-of-life treatment withdrawal, and a lower share regarding access to palliative care and patient information protection. Compared with Croatian nurses, Slovenian nurses reported a lower share of ethical dilemmas regarding the distribution of limited resources, recognizing the patient’s best interests, and access to palliative care. Compared with Croatian other HCPs, Slovenian other HCPs reported a lower burden of ethical dilemmas regarding waiting periods for diagnostics or treatment, distribution of limited resources, and access to palliative care. When encountering an ethical dilemma, all HCPs in both countries would first consult their colleagues. Slovenian and Croatian HCPs recognized the importance of the HECs to a similar extent, but viewed their role differently.ConclusionCroatian and Slovenian HCPs are confronted with different ethical dilemmas and perceive the role of HECs differently.An ethical dilemma arises when we are confronted with a situation with two morally justifiable solutions, none of which is entirely satisfactory (1). In the course of their daily work, health care professionals (HCPs) encounter a broad range of ethical dilemmas (2-4), which often result in a moral distress for HCPs (5,6). A critical requirement for a successful response to an ethical dilemma is a strong foundation in medical professionalism cultivated during medical training and consolidated during professional work experience and career development (7-9).Slovenia and Croatia, previously the westernmost republics of the former Yugoslavia and now European Union members, share the same historical, geopolitical, economic, and religious background. A recent survey in the largest Slovenian tertiary hospital, the University Medical Center Ljubljana, found that the most important contexts that give rise to ethical dilemmas among HCPs were waiting periods for diagnostics and treatment, suboptimal working conditions due to poor interpersonal relationships, and preserving patients'' dignity, while the least important contexts were biomedical research, organ transplantation, and vaccine hesitancy (10). A study at the University Medical Center Rijeka found similar main ethical dilemmas in Croatian nurses and physicians, which included limiting life-sustaining therapy, euthanasia, and physician-assisted suicide (11).Except these two studies, little to nothing is known about the ethical dilemmas of HCPs in Slovenia and Croatia. In response to this limited evidence, we conducted a prospective survey with a primary objective to assess the differences in the share of ethical dilemmas among different categories of HCPs (physicians, nurses, and other HCPs) in Slovenian and Croatian tertiary hospitals (university medical centers, UMCs). The UMCs were purposively selected because in this kind of hospitals, one encounters complicated cases usually referred from other health care institutions for complex diagnostic and therapeutic procedures, which can often raise ethical issues. The secondary objectives of our survey were to study differences in the opinion on the existence of standard procedures when HCPs are facing an ethical dilemma; to determine whom HCPs consult when facing an ethical dilemma; and to identify the opinion on the importance of hospital ethics committees (HECs) and their role in Slovenia and Croatia. 相似文献
116.
Matija Bako Toni Mati Filip Rubi Slobodan Gali Miran Cvitkovi Sandro Dessardo Darko Ani Draen Belina Milivoj Novak 《Croatian medical journal》2021,62(2):146
AimTo investigate the risk factors and the outcomes of extracorporeal membrane oxygenation (ECMO) in pediatric patients treated at the University Hospital Center Zagreb, the largest center in Croatia providing pediatric ECMO.MethodsThis retrospective study enrolled all the pediatric patients who required E-CPR from 2011 to 2019. Demographic data, cardiac anatomy, ECMO indications, ECMO complications, and neurodevelopmental status at hospital discharge were analyzed.ResultsIn the investigated period, E-CPR was used in 16 children, and the overall survival rate was 37.5%. Six patients were in the neonatal age group, 5 in the infant group, and 5 in the “older” group. There was no significant difference between the sexes. Four patients had an out-of-hospital arrest and 12 had an in-hospital arrest. Twelve out of 16 patients experienced renal failure and needed hemodialysis, with 4 out of 6 patients in the survivor group and 8 out of 10 in the non-survivor group. Survivors and non-survivors did not differ in E-CPR duration time, lactate levels before ECMO, time for lactate normalization, and pH levels before and after the start of ECMO.ConclusionThe similarity of our results to those obtained by other studies indicates that the ECMO program in our hospital should be maintained and improved.The use of extracorporeal cardiopulmonary resuscitation (E-CPR) is increasing (1). E-CPR is defined as an initiation of extracorporeal membrane oxygenation (ECMO) during active chest compressions. Its main goal is to provide immediate cardiovascular support to patients who do not react to CPR (2) and to lead to survival and a better neurological outcome (3). After administering CPR for more than 30 minutes, survival with conventional CPR measures ranges between 0%-5% (4,5).The most recent systematic review by the International Liaison Committee on Resuscitation from 2015 recommended that E-CPR should be considered for children with underlying cardiac conditions who have an in-hospital cardiac arrest when appropriate protocols, expertise, and equipment are available (6). According to the Extracorporeal Life Support Organization (ELSO) registry from 2017 (7), more than 60 000 people received extracorporeal life support (ECLS), between 2009 and 2015, with an overall survival rate of 61% (7). Pediatric ECMO experience in Slovenia shows that ECMO programs may be incorporated in smaller hospitals in the region (8-10). The ELSO database includes data on all reported pediatric ECMO runs, including those conducted with E-CPR, and in patients with congenital heart surgery and neonates with diaphragmatic hernia or meconium aspiration syndrome, etc. During the 6-year period, 3005 E-CPR runs were reported, with an overall survival to hospital discharge of 43% (7). A survival rate of 31% was reported by Ergűn et al (11) and in E-CPR patients with severe burn injury (12). The longer the CPR duration time, the lower was the survival to discharge rate. Matos et al reported an E-CPR survival-to-discharge rate of 33% after >35 min of chest compressions (13). Other studies reported that the overall survival rate of pediatric E-CPR cases was growing, with better neurological outcomes than among the patients in the CPR group only (14). Pilar et al found that in 73 pediatric cardiac patients requiring cardiopulmonary resuscitation for >30 min (15), the survival to hospital discharge was 43.8%, with 3/4 of the patients having normal neurological function or mild neurological disability (15). Based on ELSO registry, approximately 10% of all ECMO patients meet brain death criteria (7). One of the biggest single-center studies, involving 184 pediatric ECPR patients (16), showed a successful ECMO weaning in 63% of the patients and the overall survival rate to hospital discharge of 43%. In the same study, the risk factors linked to increased mortality were presupport pH<7.1, mechanical complications, and neurological complications (16). The E-CPR use can involve many complications, not necessarily linked to factors preceding cardiac arrest, such as low cardiac output syndrome or irreversible respiratory failure (17). Furthermore, common complications of ECMO treatment are fluid overload and acute kidney injury (18). Many studies showed renal replacement therapy (RRT) to be negatively associated with survival (15,16,18,19).This study assessed the risk factors and the outcomes of ECMO in the largest Croatian center providing pediatric E-CPR experience over nine years and compared the survivor and the non-survivor group. 相似文献
117.
Stephen M. Ansell Anne J. Novak Steven Ziesmer Tammy Price‐Troska Betsy LaPlant Stacey R. Dillon Thomas E. Witzig 《American journal of hematology》2009,84(2):71-73
Serum B‐lymphocyte stimulator (BLyS) levels are elevated in a subset of non‐Hodgkin lymphoma (NHL) patients, particularly those with a family history of B‐cell malignancies or a polymorphism in the BLyS gene. BLyS promotes growth of malignant B‐cells and increased serum BLyS levels are associated with a poor clinical outcome. In this study, BLyS levels were measured before and after 4 weekly doses of rituximab in 30 patients with previously untreated follicular Grade 1 NHL. A significant increase was seen in the serum levels of BLyS (P = 0.0001) after rituximab therapy. The increase was independent of genetic variability in the BLyS gene. Am. J. Hematol., 2009. © 2008 Wiley‐Liss, Inc. 相似文献
118.
119.
120.
Ephantus J. Muturi Joseph M. Mwangangi Benjamin G. Jacob Josephat I. Shililu Charles M. Mbogo John I. Githure Robert J. Novak 《Parasitology research》2009,104(4):851-859
An ecological study was conducted at three study sites in Mwea Rice Scheme, Kenya to identify the diverse aquatic habitats
in which culicine mosquitoes thrived and to explore the best strategies for mosquito control in the area. During the 11-month
study period, ten habitat categories and 11 culicine species mainly dominated by Culex quinquefasciatus (72.0%) and Culex annulioris (17.9%) were identified from pupae and late instars larval samples. Two of the 11 culicine species, Ficalbia (Mimomyia) plumosa and Uranotaenia spp., have not been reported previously in the study area. Rurumi had more habitat types than either of the other study sites
but the least number of mosquito species. In contrast, Karima had the least number of habitat types but significantly higher
density of early instars than the other study sites. The relative abundance of late instars and pupae did not vary significantly
among study sites. The contribution of different habitat types to larval production varied markedly between seasons and among
study sites. Paddies and canals were perennial contributors of culicine mosquito larvae while the other habitat types were
important mainly during the wet season. Some habitat types such as ditches, seeps, marshes, and fishpond were absent in some
study sites but of great significance in other study sites. C. quinquefasciatus was positively associated with turbidity at all study sites and also negatively associated with emergent vegetation and distance
to the nearest homestead in Karima, emergent vegetation in Kiuria, and other aquatic invertebrates in Rurumi. C. annulioris was positively associated with emergent vegetation at all study sites and also with depth in Kiuria. These findings indicate
that besides rice fields and associated habitats, a diversity of other aquatic habitats contribute to culicine adult mosquito
production in the study area and that environmental factors that determine the occurrence of a particular mosquito species
may vary significantly even among areas of similar land use. This information is critical when designing and implementing
mosquito larval control programs. 相似文献