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At least 19 recordsLinked to original sources
PubMedDate not supplied

Psycho-social variables of female rapees not reporting and reporting the first incidence of rape.

Rape statistics are difficult to assess due to differential definitions of the crime, the ratio of arrests resulting from reported complaints, and the extent of the numbers of unreported rapes, especially those regarding the first incidence of the crime. The present research was conducted to determine: 1. specific psycho-social variables associated with female rapees not reporting and reporting the first incidence of rape, and 2. a comparison of the similarities and/or differences of each, as well as 3. their influences on the women leading them to develop not reporting and reporting positions. Results suggested sixteen different variables important to female rapees not reporting and reporting the first incidence of rape. There were significant differences regarding which of these tended to be associated with either the women not reporting or reporting the rape act.

Attitude↗
PubMed2026

A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.

Pathogenic variants in AMMECR1 have been associated with a rare multisystem disorder characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN). To date, most reported cases involve copy number variants or presumed loss-of-function alterations, with only a single prior report describing a missense variant supported by functional studies. Here, we report a patient with a heterozygous de novo AMMECR1 missense variant, NM_015365.3:c.649G>A p.(Val217Met) presenting with clinical features consistent with MFHIEN, including midface hypoplasia, partial hearing impairment, nephrocalcinosis, and elliptocytosis identified on peripheral blood smear. Comparative review of the literature highlights that while previously reported missense variants in AMMECR1 demonstrated altered intranuclear protein distribution and reduced expression in functional assays, clinical evidence supporting pathogenicity of non-truncating variants remains limited. The phenotypic overlap between our patient and prior report strengthens the association between missense variations and the MFHIEN phenotype. Our findings support the pathogenic relevance of missense variation in AMMECR1 and emphasize the importance of integrating detailed phenotyping, including hematologic evaluation, with genomic data in the diagnosis of rare multisystem disorders. Additional cases and functional studies are needed to clarify genotype-phenotype correlations and underlying disease mechanisms.

Humans↗
PubMed1977

Computerized radiographic reporting in a community hospital: a consumer's report.

This report analyzes a 30 month experience with a commerically available mark sense form-based automated radiographic reporting system (RAPORT) in the diagnostic radiology department of a 400 bed general hospital. By using the system, five radiologists were able to completely formulate readable diagnostic radiology reports in 65% of all cases, thereby bypassing a transcriptionist and decreasing report turnaround time dramatically without sacrificing reporting time. Moreover, billing and statistical capabilities provided by the system were found to capture enough lost charges to pay for its entire cost. Trade-offs for these efficiencies included learning of a new code by the radiologist, certain changes in his reading habits, and acceptance of a limited, repetitive, and somewhat stilted jargon both by the radiologist and the referring physician.

Attitude of Health Personnel↗
PubMed2026

Impact of Annual School Fitness Reports on Students' Cardiorespiratory Fitness: A Cluster-Randomized Controlled Trial of Parental Reporting.

BACKGROUND: School-based physical fitness testing is an important population health monitoring tool and has the potential to improve student fitness performance. However, few studies exist on the impact of reporting student fitness to parents. METHODS: Using data from the Fit Study (2014-2017) from 12 California public schools, we used mixed-effects models to compare changes in cardiorespiratory fitness (estimated peak oxygen consumption, calculated from the 1-mile run) and strength (curl-ups and push-ups) over 1 and 2 years between students randomized to having their parents receive an annual fitness report (intervention, n = 1638 students) and control (n = 2070) in grades 5 to 8 (ages 10-15 y). The student sample was 47.9% female, 55.9% Hispanic, and 24.1% Asian. RESULTS: After 1 year, intervention students did not demonstrate differential change compared with control students in estimated peak oxygen consumption (between-group change: -0.03 mL/kg/min; 95% CI, -.367 to 0.302), curl-ups (between-group change: 1.2 curl-ups; 95% CI, -0.306 to 2.660), or push-ups (between-group change: 0.1 push-ups; 95% CI, -0.672 to 0.787). Similarly, no differences were seen after 2 years. CONCLUSION: Sending a 2-page, once-a-year school-based fitness report home to parents-in the absence of environmental changes and/or behavioral coaching and support-does not impact student fitness performance after either 1 or 2 years of reporting.

fitness reporting↗
PubMed1977

Computer-assisted radiology reporting: quality of reports.

Automated medical communication systems for patient care usually enhance timeliness and retrievability. The effect of automated systems on communication quality has not been sufficiently measured. The radiology reports produced with the automated radiology reporting system at the Johns Hopkins Hospital were evalueate for quality and compared to reports produced by dictation. No differences in quality between computer-generated and dictated reports were detected by three consultant radiologists using a specially designed quality rating system.

Computers↗
PubMed2026

Biliary Cirrhosis in Myhre Syndrome: The First Case Report of Liver Transplantation and a Review of Reported Hepatic Findings.

Myhre syndrome is a rare autosomal-dominant disorder caused by gain-of-function pathogenic variants in SMAD4 and is now recognized as a progressive multisystem fibrotic disease. Although transforming growth factor-β (TGF-β) signaling plays a central role in hepatic fibrogenesis, hepatobiliary involvement in Myhre syndrome has not been systematically evaluated. We report the first case of Myhre syndrome complicated by rapidly progressive biliary cirrhosis requiring liver transplantation in a 15-year-old male with a confirmed SMAD4 p.Ile500Val variant. Following an infectious episode, the patient developed severe cholestasis with imaging and histopathologic findings consistent with fibro-obliterative cholangiopathy, ultimately necessitating living donor liver transplantation. A systematic review of 55 published reports comprising 217 patients with Myhre syndrome revealed that hepatic evaluation was rarely performed and that previously reported liver abnormalities were mild and secondary, most commonly related to right heart dysfunction or metabolic disease, with no prior cases of progressive biliary fibrosis. This case suggests that dysregulated SMAD4-TGF-β signaling may predispose selected organs to fibro-obliterative injury and that infection-driven inflammation may act as a critical trigger for hepatic fibrosis in Myhre syndrome, expanding the recognized spectrum of organ involvement in this disorder.

Humans↗
PubMed2026

First report of MUTYH-associated polyposis with c.1353_1355del and c.452A>G mutations in Tolima Grande region from Colombia: a case report.

INTRODUCTION: The MUTYH gene encodes a protein involved in DNA repair and is known for MUTYH-associated polyposis (MAP), a rare autosomal recessive condition that predisposes individuals to colorectal cancer (CRC), colorectal polyps and familial colorectal cancer syndrome. CASE REPORT: We describe the first Tolima Grande region from a Colombian report of individuals carrying pathogenic MUTYH variants c.452A>G and c.1353_1355del associated with polyposis phenotypes. Three main cases with detailed histopathological findings and family history are presented. Additionally, independent findings from Clinaltec identified three further individuals carrying c.452A>G and one heterozygous carrier of c.1353_1355del detected during predictive multigene panel testing. DISCUSSION: These cases highlight the diagnostic and clinical challenges of distinguishing biallelic pathogenic MUTYH variants, which define MAP and confer high CRC risk, from monoallelic carriers, whose cancer risk is substantially lower. Misclassification may result in inappropriate surveillance strategies and missed opportunities for early detection. From a public health perspective, these findings emphasize persistent gaps in hereditary CRC prevention in underrepresented populations, including fragmented cancer registries and limited incorporation of genetic and family history data into clinical decision-making. CONCLUSION: This report provides evidence in Colombia of polyposis-associated pathogenic MUTYH variants c.452A>G and c.1353_1355del, underscoring the importance of expanding genetic evaluation for hereditary CRC in Latin American populations.

Colombian population↗
PubMed2026

igv-reports: embedding interactive genomic visualizations in HTML reports to aid variant review.

SUMMARY: We present igv-reports, a command-line tool to create standalone HTML pages embedding interactive genomic visualizations of read alignments and associated annotations to support variant inspection workflows. The reports contain all data and code required for visualization of the variant sites, with no dependencies on the input data files. AVAILABILITY AND IMPLEMENTATION: igv-reports is a command-line application written in Python. It is freely available at https://github.com/igvteam/igv-reports under an MIT license.

Software↗
PubMed2021

RP-REP Ribosomal Profiling Reports: an open-source cloud-enabled framework for reproducible ribosomal profiling data processing, analysis, and result reporting.

Ribosomal profiling is an emerging experimental technology to measure protein synthesis by sequencing short mRNA fragments undergoing translation in ribosomes. Applied on the genome wide scale, this is a powerful tool to profile global protein synthesis within cell populations of interest. Such information can be utilized for biomarker discovery and detection of treatment-responsive genes. However, analysis of ribosomal profiling data requires careful preprocessing to reduce the impact of artifacts and dedicated statistical methods for visualizing and modeling the high-dimensional discrete read count data. Here we present Ribosomal Profiling Reports (RP-REP), a new open-source cloud-enabled software that allows users to execute start-to-end gene-level ribosomal profiling and RNA-Seq analysis on a pre-configured Amazon Virtual Machine Image (AMI) hosted on AWS or on the user's own Ubuntu Linux server. The software works with FASTQ files stored locally, on AWS S3, or at the Sequence Read Archive (SRA). RP-REP automatically executes a series of customizable steps including filtering of contaminant RNA, enrichment of true ribosomal footprints, reference alignment and gene translation quantification, gene body coverage, CRAM compression, reference alignment QC, data normalization, multivariate data visualization, identification of differentially translated genes, and generation of heatmaps, co-translated gene clusters, enriched pathways, and other custom visualizations. RP-REP provides functionality to contrast RNA-SEQ and ribosomal profiling results, and calculates translational efficiency per gene. The software outputs a PDF report and publication-ready table and figure files. As a use case, we provide RP-REP results for a dengue virus study that tested cytosol and endoplasmic reticulum cellular fractions of human Huh7 cells pre-infection and at 6 h, 12 h, 24 h, and 40 h post-infection. Case study results, Ubuntu installation scripts, and the most recent RP-REP source code are accessible at GitHub. The cloud-ready AMI is available at AWS (AMI ID: RPREP RSEQREP (Ribosome Profiling and RNA-Seq Reports) v2.1 (ami-00b92f52d763145d3)).

AMI↗
PubMed1977

Surgical closure of left coronary artery-left ventricular fistula: the second case reported in the literature and a review of the five previously reported cases of coronary artery fistula terminating in the left ventricle.

Surgical closure of a left coronary artery-left ventricular fistula in a 44-year-old black man is reported. The fistula was discovered by coronary arteriography after the patient was admitted to the hospital complaining of recurrent chest pain. The fistula was closed with cardiopulmonary bypass, ischemic arrest, and hypothermia, and there was an uneventful postoperative recovery. The previously reported five cases of fistulas terminating in the left ventricle that were closed surgically are reviewed. Four of these cases originated in the right coronary artery and one in the left coronary artery. Three of the six patients were symptomatic at the time of discovery of the lesion. Cardiopulmonary bypass was necessary in five of the six cases. One patient died in the postoperative period from intractable hemorrhage. It is recommended that coronary artery fistulas by closed upon establishment of the diagnosis because of the sequelae if they are allowed to remain open; these include premature atherosclerosis, aneurysmal dilatation of the coronary artery, and congestive heart failure.

Adult↗
PubMed1975

Werner's syndrome: autopsy report of one case, with a review of pathologic findings reported in the literature.

The autopsy findings in a 29-year-old male with Werner's syndrome are presented, with a review of similar data on 17 autopsy cases reported in the literature. The pathologic findings in this new case were scleroderma-like skin atrophy, arteriosclerosis, and atrophy of the endocrine glands (including the genital organs). In the reported cases of Werner's syndrome, as in the present example, the authors were unable to identify any responsible organ or system. However, they suggest that connective tissue, widely distributed throughout the entire body, may play an important role. The possible abnormal metabolism of connective tissue in Werner's syndrome deserves further study.

Adult↗
PubMed1978

Diagnostic, treatment, and reporting criteria for non-specific genital infection in sexually transmitted disease clinics in England and Wales. 2: Treatment and reporting criteria.

The current methods of treating and reporting non-specific genital infection (NSGI) are described. The most commonly used drug was tetracycline in one or other form. Epidemiological treatment was widely used, particularly for female sexual contacts. There was considerable variation in the reporting criteria for the quarterly returns. The establishment of acceptable and uniform criteria for notification of NSGI is discussed.

Alcohol Drinking↗
PubMed1976

Hemangiosarcoma of the spleen: report of a case and review of previously reported cases.

Splenic hamangiosarcomas are rare tumors, usually discovered at autopsy. In a few instances the diagnosis was made premortem, at the time of splenectomy for spontaneous rupture. The tumors usually present with abdominal pain, left upper guadrant mass and tenderness, and occasionally with a microangiopathic type of anemia. The histogenesis of the tumor is in dispute. Some authors feel that they are degenerations of hemangiomas. Others feel that they arise de novo in the spleen. There is not proven association of thorotrast administration or vinyl chloride exposure to the development of hemangiosarcomas in the spleen. The prognosis of the tumor is uniformly poor and most of the patients surviving laparotomy have followed a uniformly fatal clinical course. In a few cases treated with chemotherapy there has been no evidence of clinical benefit. The case report in this article presented with essentially all the features enumerated above.

Anemia↗
PubMed1977

Budd-chiari syndrome after taking oral contraceptives. A case report and review of 14 reported cases.

A case of Budd-Chiari syndrome in a young woman taking oral contraceptives is described. Her main complaints were abdominal pain and ascites without hepatosplenomegaly and the subsequent development of shock. Diagnosis was established by selective hepatic arteriogram and vena cavagram. She was treated with supportive measures, anticoagulants and neomycin. At the time of this report, the patient is slowly convalescing, taking coumadin, diuretics and Aldactone, as well as supplementary vitamins. Reviewed are 14 cases of Budd-Chiari syndrome occurring while patients were taking oral contraceptives.

Adult↗
PubMedDate not supplied

Case report. Cardiobacterium hominis: review of prior infections and report of endocarditis on a fascia lata prosthetic heart valve.

The clinical spectrum of disease caused by Cardiobacterium hominis, a small, gram-negative coccobacillus, is little known to physicians. From analysis of a new case of C hominis endocarditis on a fascia lata aortic valve, and from review of all previous reports of infection due to this microorganism, a remarkably consistent clinical picture emerged. C hominis only causes endocarditis, affects middle-aged individuals with structurally abnormal, left-sided cardiac valves, and follows a subacute course associated with the frequent occurrence of mycotic aneurysms and embolic phenomena. The methodology and therapeutic importance of identifying this organism and separating it from the closely related Actinobacillus actinomycetemcomitans, Eikenella corrodens, and Haemophilus aphrophilus is emphasized. Either penicillin alone or penicillin plus an aminoglycoside is recommended for therapy.

Aortic Valve↗
PubMed1978

Diagnostic treatment and reporting criteria for gonorrhoea in sexually transmitted disease clinics in England and Wales. 2: treatment and reporting criteria.

The current methods of treatment and reporting are described. The most common form of treatment for gonorrhoea in men and women was a single dose of oral ampicillin, usually 2 g. In proportionately more of the clinics treating women, treatment was given over several days. The wide use of ampicillin represents a marked change in treatment practice during the last decade. Procaine penicillin was the most commonly used parenteral preparation. The two dosages used most often for men were 1.2 and 2.4 megaunits. In women the commonest regimen was 2.4 megaunits and again there was a tendency for treatment to be given over several days. Epidemiology treatment was used widely and in one-third of clinics this occurred without confirmation that the patient was a true contact. Consultants used varying diagnoses on the quarterly returns for patients treated epidemiologically in whom the smears and/or cultures were negative. Most clinics classified these cases as 'other conditions requiring treatment' (D2) but as many as 19% of clinics designated these cases as being 'true' gonorrhoea. It is suggested that this results in an overestimate of the number of cases of 'real' gonorrhoea treated in England and Wales.

Alcohol Drinking↗
PubMed1978

Neuropathic form of arthrogryposis multiplex congenita. Report of 3 cases with complete necropsy, including the first reported case of agenesis of muscle spindles.

In 3 infants with arthrogryposis multiplex congenital (AMC) complete necropsy, including removal of the entire spinal cord, was performed. Histologically, spinal type (neurogenic) atrophy of skeletal muscles in conjunction with spinal motor neurone depletion, unaccompanied by noticeable gliosis, were the most preminent features common to all cases. In addition to these, one infant (Case 1) showed total absence of muscle spindles as evident from the examination of several hundred step-serial paraffin sections covering 11 different levels in 36 samples taken from a wide range of skeletal muscles of both upper and lower extremities. This is believed to be the first published case of agenesis of muscle spindles.

Arthrogryposis↗