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At least 19 recordsLinked to original sources
PubMed2025

Costs and cost-effectiveness of returning secondary findings from genomic sequencing based on the return of additional findings in the 100,000 Genomes Project.

PURPOSE: To assess costs and cost-effectiveness of returning additional findings from genome sequencing using data from the 100,000 Genomes Project (100kGP). METHODS: A model-based cost-utility analysis combining yield, consent rates, and cost data from the 100kGP with published estimates of downstream costs and quality-adjusted life years expected to accrue over a lifetime, after the identification of a pathogenic variant. RESULTS: The cost of returning additional findings to participants in the 100kGP was £7.1m or £81 per participant, with a yield of 0.85% for consented participants. The estimated lifetime incremental cost per participant was £125 and quality-adjusted life years 0.004, giving an incremental cost-effectiveness ratio of £28,830. Implementing a policy of returning additional findings is unlikely to be cost-effective (ie, 13%) at a willingness-to-pay threshold of £20,000. A short-term cost of returning findings of £43 per participant or lower (compared with the base case of £81) would result in an incremental cost-effectiveness ratio of less than £20,000. Alternatively, cost-effectiveness may be improved by returning additional findings to younger patient populations. CONCLUSION: Return of additional findings following genome sequencing for this group of conditions may not be a cost-effective use of health care system resources. Our cost-effectiveness outcomes rely on published estimates and should be validated through long-term follow-up data.

Humans↗
PubMed2025

Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.

PURPOSE: The 100,000 Genomes Project participants could consent to receive additional findings (AFs) for variants associated with susceptibility to cancer and familial hypercholesterolemia. Here, we evaluate stakeholder experiences to inform clinical practice. METHODS: Mixed-methods study conducted at 18 sites across England that comprised a cross-sectional survey and interviews with participants who received a positive AF (PAF) and interviews with participants who had no AFs (NAF). RESULTS: There were 146 surveys followed by 35 interviews with PAF participants and 29 interviews with NAF participants. Surveys found that PAF results were seen as useful and would influence health management (82%). Most (90%) had shared their result with family members. Experiences differed by PAF type; cancer PAF participants were often initially shocked and anxious and found telling family members challenging compared with participants with a familial hypercholesterolemia PAF. Although most experiences of NAF results were positive, some misunderstandings were identified. Participants supported returning AFs when offering genome sequencing. CONCLUSION: Patient experiences of receiving AFs were primarily positive, and there is support for offering AFs routinely. Considerations for offering AFs in clinical practice include adapting approaches tailored to individual conditions and greater support for people with a NAF result.

Humans↗
PubMed1976

The cracked tooth syndrome: additional findings.

The results of this study add to the previous findings on the cracked tooth syndrome. Treatment to prevent further cracking is a must. Dentists should be aware of the syndrome and, after making the diagnosis, initiate necessary treatment.

Adolescent↗
PubMedDate not supplied

[Additional findings on the distribution and prevalence of Tetrapetalonema (Esslingeria) streptocerca (Macfie and Corson, 1922) in West Africa (author's transl)].

Human streptocerciasis has been found in the Accra district (Ghana), in southern Ivory Coast, and in Upper Volta in migrants. During a survey in the forest part of the Volta Region (Eastern Ghana), 119 cases were discovered in ten villages between 6 degrees 50' N., and 7 degrees 50' N., indicating local transmission of the parasite. The parasitic load has always been low. In the area, the presence of T. streptocerca cannot modify the results of a direct diagnosis of onchocerciasis based on the emergence of microfilariae from skin snips in distilled water or normal saline solution. The parasite has not been found in surveys undertaken north of the 8 degrees N., neither in Ghana, nor in Togo or Ivory Coast. The presence of T. streptocerca in villages located on the Togolese border confirm that this filaria exists in Togo too, although no mention is made in the literature.

Animals↗
PubMedDate not supplied

The water factor and mortality from ischemic heart disease: a review and possible explanations for inconsistent findings with additional data from Manitoba.

The question of the relationship between water hardness and mortality from cardiovascular diseases is far from being settled. Marked discrepancies in the results of various studies in this area exist and there is a great need for closer examination of the reliability of measuring water hardness and other water characteristics. There is also a need for standardizing these measurements and for accounting for certain important questions in designing studies of this nature. This article reviews the results of various studies on the "water factor," points out their discrepancies, presents additional evidence from the Province of Manitoba against the "water factor;" and explains possible sources for discrepancies in the findings of various studies. Based on the evidence so far available, it is too early to universally accept the "water story" and to make recommendations for discouraging the softening of hard water as a measure for preventing cardiovascular disease mortality.

Calcium↗
PubMed1977

[Relationships between the value of combined PAH-inulin clearance, the kidney-cortex index as well as between additional radiographic findings in chronic pyelonephritis].

In 85 patients with ascertained chronic pyelonephritis the relations between the measured values of the combined PAH-inulin-clearance, the index of the adrenal cortex and other radiological findings were investigated. Here the determination of the cortex of the adrenal cortex resulted in a better correlation with the sizes clarification values than the calculation of the size of the kidney. By variance analysis (F-test) significant differences between the individual function groups became clear.

Aminohippuric Acids↗
PubMed1977

Histopathology of Goldmann-Favre syndrome obtained by full-thickness eye-wall biopsy.

The first histopathologic specimen form the eye of a patient with Goldmann-Favre syndrome was obtained by full-thickness eye-wall biopsy. Diagnosis was established by an early history of night blindness, characteristic clinical features including atypical pigmentary retinopathy, peripheral retinoschisis, opaque "sclerotic-appearing" peripheral retinal vessels, vitreous changes including liquefaction and condensed vitreous bands and a non-detectable electroretinogram (ERG). Histopathologic changes from a 4 mm peripheral area included diffuse degenerative changes involving predominantly the sensory retinal layers with a relatively normal pigment epithelium and choroid. Vascular changes included thickened retinal vessel basement membranes and areas of vascular occlusion. These findings are compatible with a primary photoreceptor involvement in addition to a vascular component. A thick preretinal membrane of glial tissue was an additional finding.

Adult↗
PubMedDate not supplied

Diagnosis and successful management of septal myocardial abscess: a complication of bacterial endocarditis.

A case of acute enterococcal aortic valve endocarditis is presented in which the complication of a septal myocardial abscess was diagnosed clinically and successfully treated surgically. This represents the first instant, to our knowledge, in which the preoperative diagnosis of a myocardial abscess served as the indication for emergency cardiac surgical intervention in active endocarditis with successful outcome. The diagnostic parameters permitting clinical recognition of a myocardial abscess include the development of advancing degrees of atrioventricular and bundle branch block, and the finding of pericarditis or pericardial effusion in aortic valvular infections. Two additional findings were noted in the present case: echocardiographic evidence of septal thickening, and loss of septal Q waves on the electrocardiogram. Since myocardial abscesses do not respond to medical therapy, continuous electrocardiographic monitoring and frequent echocardiographic determinations are recommended in cases of active aortic valve endocarditis to permit early diagnosis and surgical management of this complication.

Abscess↗
PubMed1979

Electrolyte abnormalities in lymphosarcoma after chemotherapy.

A 12-year-old female with lymphosarcoma responding to treatment including vincristine and cyclophosphamide developed clinical and laboratory findings compatible with the syndrome of inappropriate secretion of antidiuretic hormone. Some additional findings were observed, i.e. uremia, hypopotassemia and alkalosis, that have not so far been recorded in that syndrome. All abnormalities were corrected upon water restriction. A similar episode occurred after a 2nd drug course. It too was corrected upon water restriction. The patient was clinically free from her malignancy in both episodes. It is suggested that our child had probably an expanded form of the syndrome of inappropriate secretion of antidiuretic hormone.

Child↗
PubMed2026

Performance of Photon-counting CT for Assessing Pretreatment Breast Cancer: Comparison with Mammography, MRI, and 18F-FDG PET/CT.

Background Photon-counting CT (PCCT) offers improved spatial resolution, contrast to noise ratio, and dose efficiency, but its clinical utility remains incompletely defined for breast cancer. Purpose To evaluate the feasibility of PCCT for pretreatment breast cancer assessment through comparisons with MRI, full-field digital mammography (FFDM), and fluorine 18 (18F) fluorodeoxyglucose (FDG) PET/CT. Materials and Methods In this prospective study (March-May 2025), female participants with breast lesions categorized as Breast Imaging Reporting and Data System 4C or higher at US or FFDM underwent breast MRI and multiphasic contrast-enhanced PCCT. 18F-FDG PET/CT was performed in a subset with locally advanced disease. Four radiologists independently evaluated lesion morphologic characteristics, additional findings, and clinical TNM stage. Agreement was analyzed using intraclass correlation coefficients (ICCs) and κ statistics. The diagnostic performance for additional lesions and nodal metastasis was compared with the reference standard (pathologic examination). Results Among 126 participants (mean age, 58.1 years ± 12.3 [SD]), interreader agreement across PCCT, MRI, and FFDM was good to excellent. PCCT agreed with MRI for lesion characterization (κ = 0.57-0.96) and clinical T categorization (κ = 0.86-0.88), with highest agreement with pathologic size (ICC, 0.70-0.81). For 46 pathologically confirmed additional lesions, PCCT was more sensitive than FFDM (difference, 44% [95% CI: 19, 66]) and similar to MRI (difference, 7% [95% CI: -5, 21]). Additionally, 44% (95% CI: 27, 52) of microcalcifications were missed at PCCT versus FFDM. For pathologically confirmed nodal metastasis, PCCT was more sensitive (difference, 10% [95% CI: 1, 20]) and accurate (difference, 6% [95% CI: 1, 11]) than MRI. For clinical N category, PCCT agreed with PET/CT (κ = 0.82 [95% CI: 0.62, 0.96]; n = 19). Two distant metastases identified at PCCT were consistent with 18F-FDG PET/CT and pathologic findings. Conclusion PCCT demonstrated similar performance to MRI for lesion characterization and detection of additional lesions, with better performance for nodal metastasis evaluation; however, detection of microcalcifications was limited. © RSNA, 2026 Supplemental material is available for this article.

Humans↗
PubMed1979

Neonatal lupus erythematosus.

The infant of a mother with systemic lupus erythematosus (SLE) developed an extensive cutaneous eruption at 5 weeks of age. Biopsy findings were consistent with cutaneous lupus erythematosus (LE). Splenomegaly, anemia, neutropenia, and depressed total hemolytic complemtnt levels were additional findings. The course was benign, and all manifestations disappeared by 4 months of age. Fifty-two previously reported infants with cutaneous lesions, congenital atrioventricular heart block, or hematologic manifestations of neonatal LE are reviewed.

Female↗
PubMed1979

Placebo response, placebo effect, and two attributes.

Two putative predictors of placebo response were studied in three samples of psychiatric outpatients. Two groups, 73 university medical center patients and 56 college health service patients, underwent 1 week of placebo treatment. A quasi-control group of 112 patients receiving no medication waited about 1 week before beginning psychotherapy. One attribute, acquiescence or traditionalism, predicted placebo response, thereby replicating prior findings. Acquiescence was unrelated to change in controls indicating that it may represent a correlate of true placebo effect under some conditions. Additional findings suggested qualifications as to the generality of the relationship. The second attribute, autonomic awareness, was associated with change in all three samples. It appeared to predict nonspecific improvement unrelated to placebo probably due to its relationship to intensity of somatization.

Adult↗
PubMed1979

Distal slowing of motor nerve conduction velocity in diabetic polyneuropathy.

Using the latencies of M response and F wave, motor nerve conduction was assessed along the entire course of the nerve from the spinal cord to the muscle in 102 diabetics and 74 control patients. In diabetics, latencies were increased and conduction velocity decreased over both proximal and distal segments. However, the latency ratio of the proximal to distal segment (F ratio) was slightly but significantly smaller in diabetics (mean +/- SD:0.93 +/- 0.14, 1.35 +/- 0.20, 1.09 +/- 0.19 and 1.02 +/- 0.19 for median, ulnar, tibial and peroneal nerves, respectively) than in control patients (1.05 +/- 0.09, 1.41 +/- 0.12, 1.17 +/- 0.13 and 1.08 +/- 0.12). These findings suggest that motor conduction abnormalities in diabetic polyneuropathy are diffuse over the total length of the nerve, but more intense in the distal than proximal segment. An additional finding in diabetics was that both proximal and distal segments were more frequently affected in the lower than in the upper extremities.

Adult↗
PubMed1977

Serum antibodies before and after immunisation in haemodialysed children.

Serum antibodies (AB) have been measured before and after vaccination in haemodialysed children. The main finding was a normal increase in AB titres following adsorbed vaccines (diphtheria, tetanus, pertussis and poliomyelitis) demonstrating a normal humoral immune ability. By contrast, a poor response to live attenuated viruses (poliomyelitis and measles) was observed. Two additional findings were an inhibitor effect of tetanus toxoid in mice by uraemic serum, and a constant negative Schick test indicative of suppressed non-specific skin reactivity.

Adolescent↗
PubMed1979

Bullous retinal detachment associated with renal failure: case report.

A case of bilateral bullous retinal detachment in a patient with long-standing disseminated lupus erythematosus is presented. Although several authors have reported the presence of bullous retinal detachment in association with chronic renal disease, in no other case have the ocular findings preceded the onset of frank renal failure. The etiology of nonrhegmatogenous detachment and uveal effusion in association with chronic renal disease was discussed and the possible contributory role of hypertension, electrolyte imbalance, and renal glomerular malfunction was investigated. The additional finding of late onset bilateral keratoconus is, in all probability, unrelated to the patient's retinal findings, though it is a major factor in her present visual morbidity. The purpose of this paper is twofold. First-ly, to alert the ophthalmologist to the possible development of bullous retinal detachment in patients with chronic renal disease, and secondly, to alert the internist to the possibility of impending renal failure in patients with such bilateral nonrhegmatogenous detachments.

Adult↗
PubMed1975

Hypertrophic non-obstructive cardiomyopathy caused by disorder of the myofiber texture.

A case of hypertrophic non-obstructive cardiomyopathy caused by a disorder of the myofiber texture was observed in a 10 year old boy. The heart weighed 390 g and showed concentric hypertrophy of the left and right ventricles as well as of the ventricular septum. Additional findings consisted in an abnormal septum membranaceum and a accessory tricuspid valve leaflet. Severe cardiac hypertrophy was associated with prominent interstitial and subendocardial fibrosis, and pronounced intimal fibrosis of the intramural arteries. Electron microscopy revealed various degrees and stages of hypertrophy of the myocardial cells combined with severe degenerative changes. Additional changes of the sinus node and conduction system were responsible for a tachycardia-bradycardia syndrome, complete left bundle branch block and final total AV-block.

Autopsy↗