A concise infertility work-up results in fewer pregnancies.
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ABSTRACT:
SUBMITTER: Hamilton JAM
PROVIDER: S-EPMC8452484 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:OBJECTIVE: Dilated cardiomyopathy (DCM) is characterised by left ventricular dilation and dysfunction not caused by coronary disease, valvular disease or hypertension. Owing to the considerable aetiological and prognostic heterogeneity in DCM, an extensive diagnostic work-up is recommended. We aimed to assess the value of diagnostic testing beyond careful physical examination, blood tests, echocardiography and coronary angiography. METHODS: From October 2008 to November 2012, we prospectively recruited 102 patients referred to our tertiary care hospital with a diagnosis of 'idiopathic' DCM based on patient history, physical examination, routine blood tests, echocardiography and coronary angiography. Extended work-up included cardiac MRI, exercise testing, right-sided catheterisation with biopsies, 24?h ECG and genetic testing. RESULTS: In 15 patients (15%), a diagnosis other than 'idiopathic' DCM was made based on additional tests. In 10 patients (10%), a possibly disease-causing mutation was detected. 2 patients were found to have non-compaction cardiomyopathy based on MRI findings; 2 patients had systemic inflammatory disease with cardiac involvement; and in 1 patient, cardiac amyloidosis was diagnosed by endomyocardial biopsy. Only in 5 cases did the results of the extended work-up have direct therapeutic consequences. CONCLUSIONS: In patients with DCM, in whom patient history and routine work-up carry no clues to the aetiology, the diagnostic and therapeutic yield of extensive additional testing is modest.
| S-EPMC4600247 | biostudies-literature
Project description:ImportanceDespite the increased perinatal risks associated with pregnancies conceived with infertility treatment, there are no recommendations for timing of delivery among this at-risk population.ObjectiveTo identify the gestational age at which the ongoing risks of stillbirth are optimally balanced with the risks of neonatal comorbidities and infant deaths in term singleton pregnancies conceived with infertility treatment.Design, setting, and participantsThis cohort study used birth and death data from January 1, 2014, to December 31, 2018, in the US obtained from the National Center for Health Statistics. Singleton pregnancies conceived with infertility treatment delivered at term (37-42 weeks' gestation) were eligible for inclusion. The exclusion criteria were deliveries at less than 37 weeks' or at least 43 weeks' gestation and pregnancies with unknown history of infertility treatment, congenital anomalies, pregestational diabetes, pregestational hypertension, gestational hypertension, and preeclampsia. Data were analyzed from July 22, 2022, to June 24, 2023.ExposureGestational age at delivery between 37 and 42 weeks.Main outcomes and measuresThe primary outcome was optimal timing of delivery. To ascertain this timing, the risk of delivery (rate of neonatal morbidity and infant death) at a given gestational week was compared with the risk of delivery in the subsequent week of gestation for an additional week (rate of stillbirth during the given week per 10 000 ongoing pregnancies plus rate of neonatal morbidity and infant death in the subsequent week of gestation per 10 000 deliveries). The rates of stillbirth, neonatal morbidity, and infant death (within 1 year of life) were compared at each week. Neonatal morbidity included an Apgar score of 3 or lower at 5 minutes, requirement of ventilation for 6 hours or more, neonatal intensive care unit admission, and seizures.ResultsOf the 178 448 singleton term pregnancies conceived with infertility treatment (maternal mean [SD] age, 34.2 [5.2] years; mean [SD] gestational age, 39.2 [1.2] weeks; 130 786 [73.5%] were non-Hispanic White patients). The risk of delivery in the subsequent week of gestation was lower than the risk of delivery at both 37 weeks (628 [95% CI, 601-656] vs 1005 [95% CI, 961-1050] per 10 000 live births) and 38 weeks (483 [95% CI, 467-500 vs 625 [95% CI, 598-652] per 10 000 live births). The risks of delivery in subsequent week of gestation significantly exceeded the risk of delivery at 39 weeks (599 [95% CI, 576-622] vs 479 [95% CI, 463-495] per 10 000 live births) and were not significant at 40 weeks (639 [95% CI, 605-675] vs 594 [95% CI, 572-617] per 10 000 live births) and 41 weeks (701 [95% CI, 628-781] vs 633 [95% CI, 599-669] per 10 000 live births).Conclusions and relevanceResults of this study suggest that, in pregnancies conceived with infertility treatment, delivery at 39 weeks provided the lowest perinatal risk when comparing risk of delivery at this week of gestation vs the subsequent week of gestation.
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| S-EPMC2845687 | biostudies-literature
Project description:Focal segmental glomerulosclerosis is a histologic lesion, rather than a clinical disease. FSGS is common cause of nephrotic syndrome in both adults and children worldwide. In the United States it is the most common primary glomerular disease resulting in end-stage renal disease and recent reports have suggested that its incidence might be on the rise. Currently the incidence is estimated to be 7 per million. The podocyte is the cellular target cell in FSGS and in recent years substantial insight in the pathogenesis and genetics of FSGS have accumulated. Furthermore the discovery of potential novel biomarkers to diagnose FSGS and monitor disease activity has renewed interest in this disease. In this review article we will focus on the clinical presentation and diagnosis of FSGS.
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Project description:BackgroundThis study was conducted to evaluate the clinical applicability of integrated PET/MRI for staging and monitoring the effectiveness of neoadjuvant chemotherapy in Ewing sarcoma patients.MethodsA total of 11 juvenile patients with confirmed Ewing sarcoma, scheduled for induction polychemotherapy, were prospectively enrolled for a PET/MR examination before, during and after the end of treatment. Two experienced physicians analysed the imaging datasets. They were asked to perform a whole-body staging in all three examinations and to define treatment response according to the RECIST1.1 and PERCIST criteria for each patient.ResultsIn eight patients lymph node and/or distant metastases were detected at initial diagnosis. According to the reference standard, three patients achieved complete response, six patients partial response, and one patient showed stable disease while another patient showed progressive disease. RECIST1.1 categorized the response to treatment in 5/11 patients correctly and showed a tendency to underestimate the response to treatment in the remaining six patients. PERCIST defined response to treatment in 9/11 patients correctly and misclassified two patients with a PR as CR.ConclusionPET/MRI may serve as a valuable imaging tool for primary staging and response assessment of juvenile patients with Ewing sarcoma to induction chemotherapy, accompanied by a reasonable radiation dose for the patient.
| S-EPMC9600118 | biostudies-literature
Project description:Background and aimsNo recommendations exist regarding optimal follow-up schedule in patients with eosinophilic esophagitis (EoE) under maintenance treatment.MethodsWe retrospectively evaluated a long-term surveillance concept at the Swiss EoE clinic, where clinical, endoscopic and histological disease activity is assessed annually regardless of EoE symptoms. Data on 159 adult patients under maintenance steroid treatment with available follow-up were analyzed. Patients were classified as having close (duration between visits <18 months) or non-close follow-up (≥18 months).ResultsWe analyzed a total of 309 follow-up visits of 159 patients (123 males, age at diagnosis 38.9 ± 15.4 years). 157 (51%) visits were within a close follow-up schedule (median duration between visits of 1.0 years (interquartile range (IQR) 0.9-1.2)), while 152 visits (49%) were not (median duration between visits 2.9 years (IQR 2.0-4.1)). There was no difference regarding ongoing clinical, endoscopic, and histological disease activity, and adherence to prescribed steroid treatment between the two groups. However, stricture formation was significantly less frequently observed at visits within a close follow-up schedule (22.9 vs. 33.6%, p = 0.038). Absence of close follow-up was a significant risk factor for stricture development in a multivariate regression model. Patients who achieved histological remission and were followed within a close-follow-up schedule had significantly earlier detection of histological relapse compared to patients not within such close follow-up.ConclusionClose follow-up is associated with fewer stricture formation and appears to result in earlier detection of histological relapse in patients with eosinophilic esophagitis. We advocate for regular assessment of disease activity (every 12-18 months) in order to detect relapsing disease as early as possible, and therefore potentially minimize the risk for EoE complications.
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Project description:Despite overall good survivorship and clinical outcomes in the short term after total hip arthroplasty (THA) with use of alumina ceramic-on-highly cross-linked polyethylene (HXLPE) in patients younger than 30 years of age, there is a paucity of long-term data to evaluate the fixation of the components and the prevalence of osteolysis. We reviewed the records of 45 patients (54 hips) who had been included in a previous report to evaluate the long-term functional outcomes as well as radiographic and computed tomographic scan findings (particularly with regard to component fixation and osteolysis) after a mean duration of follow-up of 17.8 years. One femoral stem was revised because of aseptic loosening, and 2 acetabular components were revised because of recurrent dislocation. The survival rate at 17.8 years was 98% for the femoral component and 96% for the acetabular component. LEVEL OF EVIDENCE:: Therapeutic Level IV. See Instructions for Authors for a complete description of level of evidence.
| S-EPMC7431153 | biostudies-literature
Project description:Over 8% of couples worldwide are affected by infertility and nearly half of these cases are due to male-specific issues where the underlying cause is often unknown. Therefore, discovery of new genetic factors contributing to male-specific infertility in model organisms can enhance our understanding of the etiology of this disorder. Here we show that murine ATP10A, a phospholipid flippase, is highly expressed in male reproductive organs, specifically the testes and vas deferens. Therefore, we tested the influence of ATP10A on reproduction by examining fertility of Atp10A knockout mice. Our findings reveal that Atp10A deficiency leads to male-specific infertility, but does not perturb fertility in the females. The Atp10A deficient male mice exhibit smaller testes, reduced sperm count (oligozoospermia) and lower sperm motility (asthenozoospermia). Additionally, Atp10A deficient mice display testes and vas deferens histopathological abnormalities, as well as altered total and relative amounts of hormones associated with the hypothalamic-pituitary-gonadal axis. Surprisingly, circulating testosterone is elevated 2-fold in the Atp10A knockout mice while luteinizing hormone, follicle stimulating hormone, and inhibin B levels were not significantly different from WT littermates. The knockout mice also exhibit elevated levels of gonadotropin receptors and alterations to ERK, p38 MAPK, Akt, and cPLA2-dependent signaling in the testes. Atp10A was knocked out in the C57BL/6J background, which also carries an inactivating nonsense mutation in the closely related lipid flippase, Atp10D. We have corrected the Atp10D nonsense mutation using CRISPR/Cas9 and determined that loss of Atp10A alone is sufficient to cause infertility in male mice. Collectively, these findings highlight the critical role of ATP10A in male fertility in mice and provide valuable insights into the underlying molecular mechanisms.
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Project description:To assess the relations of infertility causes and treatment to cancer risk, we will conduct a retrospective cohort study of approximately 12,000 women evaluated for infertility between 1965-1988. These women will be ascertained from several large infertility clinics and private practices in various geographic locations in the United States: Boston, Chicago, Detroit, New York, and Palo Alto. These practices were selected on the basis of their having large number of patients who received ovulation stimulating drugs many years in the distant past. Abstractors reviewed clinic medical records to identify eligible study participants and abstract data needed to classify causes of infertility and document therapies employed. Using a variety of tracing sources (including the National Death Index, credit bureaus, and postmasters), the vital status and location of the study subjects were determined. Subjects who were traced and identified as alive are being sent a detailed questionnaire that requests information on their health status as well as on a number of lifestyle practices. For subjects who report a cancer, medical verification is being sought from the diagnosing physicians and/or facilities. Death certificates are being sought for deceased subjects.
| 2030151 | ecrin-mdr-crc
Project description:Our aim was to assess the validity of the ICD-10 code for splenomegaly in the Danish National Registry of Patients (DNRP), as well as to investigate which underlying diseases explained the observed splenomegaly.Splenomegaly is a common finding in patients referred to an internal medical department and can be caused by a large spectrum of diseases, including haematological diseases and liver cirrhosis. However, some patients remain without a causal diagnosis, despite extensive medical work-up.We identified 129 patients through the DNRP, that had been given the ICD-10 splenomegaly diagnosis code in 1994-2013 at Odense University Hospital, Denmark, excluding patients with prior splenomegaly, malignant haematological neoplasia or liver cirrhosis. Medical records were reviewed for validity of the splenomegaly diagnosis, diagnostic work-up, and the underlying disease was determined. The positive predictive value (PPV) with 95% confidence interval (CI) was calculated for the splenomegaly diagnosis code. Patients with idiopathic splenomegaly in on-going follow-up were also invited to be investigated for Gaucher disease.The overall PPV was 92% (95% CI: 85, 96). Haematological diseases were the underlying causal diagnosis in 39%; hepatic diseases in 18%, infectious disease in 10% and other diseases in 8%. 25% of patients with splenomegaly remained without a causal diagnosis. Lymphoma was the most common haematological causal diagnosis and liver cirrhosis the most common hepatic causal diagnosis. None of the investigated patients with idiopathic splenomegaly had Gaucher disease.Our findings show that the splenomegaly diagnosis in the DNRP is valid and can be used in registry-based studies. However, because of suspected significant under-coding, it should be considered if supplementary data sources should be used in addition, in order to attain a more representative population. Haematological diseases were the most common cause, however in a large fraction of patients no causal diagnosis was found.
| S-EPMC5685614 | biostudies-literature