Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period.
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ABSTRACT:
SUBMITTER: Beddok A
PROVIDER: S-EPMC8105326 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND:This study summarizes the results of prenatal diagnosis due to a history of de novo mutation in a previous pregnancy, in a tertiary center in Israel, over a 10-year period. METHODS:We sorted all cases of de novo mutations from a pool of 2,260 pregnancies for which prenatal molecular diagnosis was applied, between the years 2008 and 2017. We identified 122 molecular prenatal diagnosis performed for de novo mutations, in 90 women. RESULTS:While the total number of yearly prenatal diagnoses stayed stable, a linear increase was detected in the number of cases for which the procedure was done due to a previous de novo mutation: from 3 cases in 2008 to 24 cases in 2017. The most common diseases were Rett syndrome (19), neurofibromatosis Type-1 (12) and Tuberous sclerosis (5). Recurrence occurred in 3 of the 90 women (3.3%) and hotspot mutations were identified in two genes accounting for 11 cases. We did not find a difference in paternal age at first occurrence of the de novo mutation between the study group and the control group. CONCLUSION:The large increase in the annual number of prenatal diagnoses performed due to a previous pregnancy with a de novo mutation reflects the growing understanding regarding the role of these mutations in the pathogenesis of genetic diseases.
| S-EPMC6465671 | biostudies-literature
Project description:ImportanceUnreported clinical trial results represent a violation of human rights. Oncology trials account for nearly 30% of interventional biopharmaceutical clinical studies registered on ClinicalTrials.gov and are the most numerous among all disciplines.ObjectiveTo analyze the reporting of results among all interventional oncology trials registered on ClinicalTrials.gov from 2007 through 2017.Design, setting, and participantsThis cohort study analyzed all clinical studies registered between June 1, 2007, and May 8, 2017, on ClinicalTrials.gov, the largest public clinical trial registry in the world. Trials with a recruitment status of completed or terminated and a primary completion date of on or before September 30, 2017, were selected. Data were analyzed between February 20, 2021, and February 26, 2021.Main outcomes and measuresThe main outcome was the percentage of trials that reported results either on ClinicalTrials.gov or in journal publications within 24 months of the primary completion date. Journal publication was ascertained by searching ClinicalTrials.gov for a link to the publication, PubMed using national clinical trial number, and Embase using national clinical trial number and filters.ResultsOf the 12 240 clinical trials registered in ClinicalTrials.gov, 7425 trials (60.7%; 95% CI, 60.0%-61.5%) reported results, with a 34.0% (95% CI, 30.3%-37.7%) increase in 24-month reporting rate from 2007 to 2017. Multivariable analyses confirmed that more recent trials (adjusted hazard ratio [HR], 1.11 per year increase; 95% CI, 1.10-1.13) and trials with larger sample sizes (51-100 patients: adjusted HR, 1.17 [95% CI, 1.09-1.24]; >100 patients: adjusted HR, 1.43 [95% CI, 1.33-1.54]) were more likely to report results. Terminated trials were less likely to report results compared with completed trials (adjusted HR, 0.88; 95% CI, 0.83-0.93). Compared with trials funded by industry, those funded by the National Institutes of Health were more likely to report results (adjusted HR, 1.39; 95% CI, 1.29-1.49), whereas those funded by other academic or nonprofit organizations were less likely to report results (adjusted HR, 0.66; 95% CI, 0.62-0.70). Among all 7425 trials, the results of 2807 trials (37.8%; 95% CI, 36.7%-38.9%) were posted only on ClinicalTrials.gov. These trials tended to be terminated early and to have small sample sizes (≤50 patients) compared with trials that published results in journals.Conclusions and relevanceThis study found a gradual improvement in results reporting among oncology trials over a 10-year period. Trial registries could serve as a results reporting platform for unpublished trials and as a data source of trial outcomes for future studies.
| S-EPMC8144925 | biostudies-literature
Project description:BackgroundProcedural competency is expected of all emergency medicine (EM) residents upon graduation. The ACGME requires a minimum number of essential procedures to successfully complete training. However, data are limited on the actual number of procedures residents perform and prior studies are limited to single institutions over short time periods. This study sought to assess the number of Key Index Procedures completed during EM residency training and evaluate trends over time.MethodsWe conducted a retrospective review of graduating EM resident procedure logs across eight ACGME accredited residency programs over the last 10 years (2013-2022). Sites were selected to ensure diversity of program length, program type, and geography. All data from EM residents graduating in 2013-2022 were eligible for inclusion. Data from residents from combined training programs, those who did not complete their full training at that institution (i.e., transferred in/out), or those who did not have data available were excluded. We determined the list of procedures based upon the ACGME Key Index Procedures list. Sites obtained totals for each of the identified procedures for each resident upon graduation. We calculated the mean and 95% CI for each procedure.ResultsWe collected data from a total of 914 residents, with 881 (96.4%) meeting inclusion criteria. The most common procedures were point-of-care ultrasound, adult medical resuscitation, adult trauma resuscitation, and intubation. The least frequent procedures included pericardiocentesis, cricothyroidotomy, cardiac pacing, vaginal delivery, and chest tubes. Most procedures were stable over time with the exception of lumbar punctures (decreased) and point-of-care ultrasound (increased).ConclusionsIn a national sample of EM programs, procedural numbers remained stable except for lumbar puncture and ultrasound. This information can inform residency training curricula and accreditation requirements.
| S-EPMC9899625 | biostudies-literature
Project description:IntroductionAcross all specialties, economic pressure is driving increased utilization of outpatient surgery when feasible.AimsOur aims were to analyze national trends of penile prosthesis (PP) surgery and to examine patient and hospital characteristics, and perioperative complications in the inpatient setting.MethodsWe analyzed data from National Inpatient Sample. Patients in NIS who underwent PP insertion between 2000 and 2010 were included.Main outcome measuresOur main outcomes were the number of inpatient PP procedures, type of prosthesis, patient demographics, comorbidities, hospital characteristics, and immediate perioperative complications.ResultsThere was a progressive and dramatic decline by nearly half in the number of both inflatable (IPP) and noninflatable (NIPP) inpatient insertions performed from 2000 to 2010 (P = 0.0001). The overall rate of inpatient complications for PP insertion was 13.5%. Patients with three or more comorbidities were found to have a higher risk of complications than patients with no comorbidities (OR = 1.45, 95% CI = 1.18-1.78) (P = 0.0001). Surgeries performed in high-volume hospitals (10 or more PP cases per year) were associated with reduced risk of complications (OR = 0.6) (P < 0.0001). There was a dramatic decrease in inpatient setting for PP placement in high-volume hospitals (32% in 2000 compared with 6% in 2010; P < 0.0001), and when compared with lower volume hospitals. NIPP was more likely performed in younger patients and in community hospitals, and less likely in white patients. Medicaid health insurance was associated with much higher rate of NIPP insertion than other types of insurance.ConclusionsThe number of PP procedures performed in the inpatient setting declined between 2000 and 2010, likely reflecting a shift toward increasing outpatient procedures. Our data also suggest a better outcome for patients having the procedure done at a high-volume center in terms of inpatient complications. Alwaal A, Harris CR, Hussein AA, Sanford TH, McCulloch CE, Shindel AW, and Breyer BN. The decline of inpatient penile prosthesis over the 10-year period, 2000-2010. Sex Med 2015;3:280-286.
| S-EPMC4721026 | biostudies-literature
Project description:ImportanceIndividuals with cancer often have an elevated platelet count at the time of diagnosis. The extent to which an elevated platelet count is an indicator of cancer is unclear.ObjectiveTo evaluate the association of an elevated platelet count with a cancer diagnosis.Design, setting, and participantsThis nested case-control study included Ontario residents enrolled in the provincial health insurance plan who had 1 or more routine complete blood count (CBC) tests performed between January 1, 2007, and December 31, 2017, with follow-up through December 31, 2018. Case patients were individuals with a new cancer diagnosis during the observation period. Eligible control individuals were cancer free before the date of diagnosis for a case patient to whom they were matched. One case patient was matched to 3 controls based on sex, age, and health care use patterns. Data were analyzed from September 24, 2020, to July 13, 2021.ExposuresCase patients and controls were assigned to 1 of 5 exposure groups based on age- and sex-specific platelet count distributions in the control population: very low (≤10th percentile), low (>10th to 25th percentile), medium (>25th to <75th percentile), high (75th to <90th percentile), and very high (≥90th percentile).Main outcomes and measuresOdds ratios (ORs) were estimated for specific cancer sites for each category of platelet count at intervals up to 10 years after a blood test.ResultsOf the 8 917 187 eligible Ontario residents with a routine CBC record available, 4 971 578 (55.8%) were women; the median age at the first CBC was 46.4 years (IQR, 32.5-59.5 years). Among individuals with a routine CBC record available, 495 341 (5.6%) received a diagnosis of first primary cancer during the 10-year observation period. The OR for a solid tumor diagnosis associated with a very high platelet count vs a medium platelet count in the 6-month period before the diagnosis was 2.32 (95% CI, 2.28-2.35). A very high platelet count was associated with colon (OR, 4.38; 95% CI, 4.22-4.54), lung (OR, 4.37; 95% CI, 4.22-4.53), ovarian (OR, 4.62; 95% CI, 4.19-5.09), and stomach (OR, 4.27; 95% CI, 3.91-4.66) cancers. Odds ratios attenuated with increasing time from CBC test to cancer diagnosis.Conclusions and relevanceIn this nested case-control study, an elevated platelet count was associated with increased risk of cancer at several sites. Our findings suggest that an elevated platelet count could potentially serve as a marker for the presence of some cancer types.
| S-EPMC8753503 | biostudies-literature
Project description:ObjectiveTo review the claims, claims basis, and frequency of lawsuits over lost or damaged frozen embryos and to estimate their frequency over a 10-year interval.DesignRetrospective analysis of case law.SettingPrivate in vitro fertilization clinic and school of law.PatientsNone.InterventionsCase law identified using Bloomberg Law, Westlaw, and Lexis Nexis databases for coverage of court dockets regarding allegations and claims.Main outcome measuresLawsuits brought and settled in state and federal court, with data extracted included claims basis and location in federal or state courts.ResultsWe reviewed case law from January 1, 2009, to April 22, 2019, using the terms frozen, discarded, lost, and damaged embryo/s, and calculated clinical cases using frozen embryos from Centers for Disease Control and Prevention data. We identified 133 cases: 122 and 11 lawsuits in the state and federal court dockets, respectively. Of these, 87 cases involved alleged freezer tank failure in California and Ohio in 2018-2019. In the remaining 44 cases, the majority (37 cases) were brought for personal injury, breach of contract or warranty, product liability, professional negligence, unfair business practices, and miscellaneous tort. A minority (7 cases) were brought for medical malpractice. During this interval, a total of 398,256 embryo-thaw procedures were reported nationally.ConclusionsAllegations range from business practices to product liability and are seldom for medical malpractice. Our results suggest that best practices in storage of frozen embryos should include not only improvements in hardware and monitoring of storage conditions of specimens but also setting standards for communications among patients, providers, and embryology laboratories regarding disposition of embryos.
| S-EPMC8244326 | biostudies-literature
Project description:BackgroundChildhood abuse is linked to experiencing multiple chronic health problems in midlife adults. Research has seldom examined whether childhood abuse is associated with a greater number of chronic physical health issues over time. The current study was to examine the contributions of childhood abuse on the development of chronic health conditions over a 10-year period.Participants and settingData were taken from the study of Midlife Development in the United States. Using three waves of data, 661 married adults were included in the analysis.ResultsUsing hierarchical regression, we found that childhood abuse was uniquely associated with the development of a greater number of chronic physical health conditions over a 10-year period. Post-hoc analysis found that neither gender nor age moderated the associations.ConclusionsFindings of the study indicate that childhood abuse was uniquely associated with a greater number of chronic physical health conditions over a 10-year period. These findings suggest that abuse in childhood may speed up biological aging and erode adult's health over time leaving adults vulnerable to chronic health conditions. Prevention efforts should assess adults for childhood abuse and the impact of childhood abuse on adult health over time may be preventable or more manageable.
| S-EPMC10273366 | biostudies-literature
Project description:Background and aimThe Helping Babies Breathe program gave major reductions in perinatal mortality in Tanzania from 2009 to 2012. We aimed to study whether this effect was sustained, and whether resuscitation skills changed with continued frequent training.MethodsWe analysed prospective data covering all births (n = 19,571) at Haydom Lutheran Hospital in Tanzania from July 2013 -June 2018. Resuscitation training was continued during this period. All deliveries were monitored by an observer recording the timing of events and resuscitation interventions. Heart rate was recorded by dry-electrode ECG and bag-mask-ventilation by sensors attached to the resuscitator device. We analyzed changes over time in outcomes, use of resuscitation interventions and performance of resuscitation using binary regression models with the log-link function to obtain adjusted relative risks.ResultsWith introduction of user fees for deliveries since 2014, the number of deliveries decreased by 30% from start to the end of the five-year period. An increase in low heart rate at birth and need for bag-mask-ventilation indicate a gradual selection of more vulnerable newborns delivered in the hospital over time. Despite this selection, newborn deaths <24 hours did not change significantly and was maintained at an average of 8.8/1000 live births. The annual reductions in relative risk for perinatal death adjusted for vulnerability factors was 0.84 (95%CI 0.76-0.94). During the five-year period, longer duration of bag-mask ventilation sequences without interruption was observed. Delivered tidal volumes were increased and mask leak was decreased during ventilation. The time to initiation or total duration of ventilation did not change significantly.ConclusionThe reduction in 24-hour newborn mortality after introduction of Helping Babies Breathe was maintained, and a further decrease over the five-year period was evident when analyses were adjusted for vulnerability of the newborns. Perinatal survival and performance of ventilation were significantly improved.
| S-EPMC7549771 | biostudies-literature
Project description:Staphylococci can cause wound infections and community- and nosocomial-acquired pneumonia, among a range of illnesses. Staphylococcus aureus and methicillin-resistant S. aureus (MRSA) have been rapidly increasing as a cause of infections worldwide in recent decades. Numerous reports indicate that S. aureus and MRSA are becoming resistant to many antibiotics, which makes them very dangerous. Therefore, this study retrospectively investigated the resistance to antimicrobial agents in all hospitalized patients suffering from community- or nosocomial-acquired pneumonia due to S. aureus and MRSA.Information from the study groups suffering from either community- or nosocomial-acquired pneumonia caused by S. aureus or MRSA was gathered by searching records from 2004 to 2014 at the HELIOS Clinic Wuppertal, Witten/Herdecke University, Germany. The findings of antibiotic resistance were analyzed after the evaluation of susceptibility testing for S. aureus and MRSA.Total of 147 patients (63.9%, 95% CI 57.5%-69.8%), mean age 67.9 ± 18.5 years, with pneumonia triggered by S. aureus, and 83 patients (36.1%, 95% CI 30.2%-42.5%), mean age 72.3 ± 13.8 years, with pneumonia due to MRSA. S. aureus and MRSA developed no resistance to vancomycin (P = 0.019 vs. < 0.0001, respectively) or linezolid (P = 0.342 vs. < 0.0001, respectively). MRSA (95.3%) and S. aureus (56.3%) showed a high resistance to penicillin. MRSA (87.7%) was also found to have a high antibiotic resistance against ß-lactam antibiotics, compared to S. aureus (9.6%). Furthermore, MRSA compared to S. aureus, respectively, had increased antibiotic resistance to ciprofloxacin (90.1% vs. 17.0%), cefazolin (89.7% vs. 10.2%), cefuroxime (89.0% vs. 9.1%), levofloxacin (88.2% vs. 18.4%), clindamycin (78.0% vs. 14.7%), and erythromycin (76.5% vs. 20.8%).No development of resistance was found to vancomycin and linezolid in patients with pneumonia caused by S. aureus and MRSA.
| S-EPMC4580637 | biostudies-other
Project description:BackgroundMaintaining cognitive function protects older adults from developing functional decline. This study aims to identify the neuroimaging correlates of maintenance of higher global cognition as measured by the Modified Mini Mental State Test (3 MS) score.MethodsRepeated 3 MS measures from 1997-98 through 2006-07 and magnetic resonance imaging with diffusion tensor in 2006-07 were obtained in a biracial cohort of 258 adults free from dementia (mean age 82.9 years, 56% women, 42% blacks). Participants were classified as having shown either maintenance (3 MS slope>0) or decline (3 MS slope<1 SD below the mean) of cognition using linear mixed models. Measures of interest were white matter hyperintensity volume (WMHv) from total brain, volume of the gray matter (GMv) and microstructure (mean diffusivity, MD) for total brain and for brain areas known to be related to memory and executive control function: medial temporal area (hippocampus, parahippocampus and entorhinal cortex), cingulate cortex, dorsolateral prefrontal and posterior parietal cortex.ResultsDifferences between cognitive maintainers (n=153) and non-maintainers (n=107) were significant for GMv of the medial temporal area (35.8%, p=0.004) and lower MD of the cingulate cortex (37.9%, p=0.008), but not for other neuroimaging markers. In multivariable regression models adjusted for age, race, WMHv and GMV from the total brain and vascular conditions, each standard deviation of GMv of the medial temporal area and each standard deviation of MD of the cingulate cortex were associated with a nearly 4 times greater probability (odds ratio [standard deviation]: 3.80 [1.16, 12.44]) and a 34% lower probability (0.66, [0.46, 0.97]) of maintaining cognitive function, respectively. In these models neither WMHv nor GMv from total brain were significantly associated with probability of maintaining cognitive function.ConclusionsPreserving the volume of the medial temporal area and the microstructure of the cingulate cortex may contribute to maintaining cognitive function late in life.
| S-EPMC3690545 | biostudies-literature