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PURPOSE: To prospectively evaluate comfort and image quality of prostate MRI using two different endorectal (ER) coils. MATERIALS AND METHODS: Thirty consecutive patients were prospectively randomized to receive prostate MRI using either a prostate endocoil (PEC) or colorectal endocoil (CEC). Patients and operators were surveyed with regard to endocoil placement. Four Body MRI trained radiologists rated image quality for each examination and additional selected blinded coronal T2 weighted images. RESULTS: Average patient discomfort (on a 0-10 pain scale) was greater with the PEC (5.0 for PEC and 2.7 for CEC) with a statistically significant difference (P < 0.03). Ability to identify the neurovascular bundle (NVB) was 5.8 times more likely to be rated excellent with the CEC compared with the PEC (P < 0.003). Image quality with CEC was 3.5 times more highly rated (P < 0.04). In particular, signal-to-noise ratio (SNR) with the CEC was 3.0 times more highly rated than with the PEC (P < 0.05). CONCLUSION: The smaller CEC was better tolerated by patients than the traditional PEC, and resulted in at least equivalent, and in some instances improved image quality. This may result in fewer aborted cases and lead to decreased procedural intolerance to endorectal coil MRI.
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Imageamento por Ressonância Magnética/efeitos adversos , Imageamento por Ressonância Magnética/instrumentação , Dor/etiologia , Satisfação do Paciente , Neoplasias da Próstata/patologia , Transdutores/efeitos adversos , Adulto , Desenho de Equipamento , Análise de Falha de Equipamento , Humanos , Masculino , Pessoa de Meia-Idade , Dor/prevenção & controle , Medição da Dor , Neoplasias da Próstata/complicações , Reto , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
Importance: Nonsyndromic bicuspid aortic valve (nsBAV) is the most common congenital heart valve malformation. BAV has a heritable component, yet only a few causative genes have been identified; understanding BAV genetics is a key point in developing personalized medicine. Objective: To identify a new gene for nsBAV. Design, Setting, and Participants: This was a comprehensive, multicenter, genetic association study based on candidate gene prioritization in a familial cohort followed by rare and common association studies in replication cohorts. Further validation was done using in vivo mice models. Study data were analyzed from October 2019 to October 2022. Three cohorts of patients with BAV were included in the study: (1) the discovery cohort was a large cohort of inherited cases from 29 pedigrees of French and Israeli origin; (2) the replication cohort 1 for rare variants included unrelated sporadic cases from various European ancestries; and (3) replication cohort 2 was a second validation cohort for common variants in unrelated sporadic cases from Europe and the US. Main Outcomes and Measures: To identify a candidate gene for nsBAV through analysis of familial cases exome sequencing and gene prioritization tools. Replication cohort 1 was searched for rare and predicted deleterious variants and genetic association. Replication cohort 2 was used to investigate the association of common variants with BAV. Results: A total of 938 patients with BAV were included in this study: 69 (7.4%) in the discovery cohort, 417 (44.5%) in replication cohort 1, and 452 (48.2%) in replication cohort 2. A novel human nsBAV gene, MINDBOMB1 homologue MIB1, was identified. MINDBOMB1 homologue (MIB1) is an E3-ubiquitin ligase essential for NOTCH-signal activation during heart development. In approximately 2% of nsBAV index cases from the discovery and replication 1 cohorts, rare MIB1 variants were detected, predicted to be damaging, and were significantly enriched compared with population-based controls (2% cases vs 0.9% controls; P = .03). In replication cohort 2, MIB1 risk haplotypes significantly associated with nsBAV were identified (permutation test, 1000 repeats; P = .02). Two genetically modified mice models carrying Mib1 variants identified in our cohort showed BAV on a NOTCH1-sensitized genetic background. Conclusions and Relevance: This genetic association study identified the MIB1 gene as associated with nsBAV. This underscores the crucial role of the NOTCH pathway in the pathophysiology of BAV and its potential as a target for future diagnostic and therapeutic intervention.
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Doença da Válvula Aórtica Bicúspide , Transdução de Sinais , Ubiquitina-Proteína Ligases , Receptores Notch/metabolismo , Ubiquitina-Proteína Ligases/genética , Ubiquitina-Proteína Ligases/metabolismo , Estudos de Associação Genética , HumanosRESUMO
Bicuspid aortic valve (BAV) is a common congenital heart disease, with a 10-fold higher prevalence in first-degree relatives. BAV has different phenotypes based on the morphology of cusp fusion. These phenotypes are associated with different clinical courses and prognoses. Currently, the determinants of the valve phenotype are unknown. In this study we evaluated the role of genetics using familial cohorts. Patients with BAV and their first-degree relatives were evaluated by echocardiography. The concordance in BAV phenotype between pairs of family members was calculated and compared with the concordance expected by chance. We then performed a systematic literature review to identify additional reports and calculated the overall concordance rate. During the study period, 70 cases from 31 families and 327 sporadic cases were identified. BAV was diagnosed in 14% of the screened relatives. The proportions of the morphologies identified was: 12.3% for type 0, 66.2% for type 1-LR, 15.4% for type 1-RN, 4.6% for type 1-NL, and 1.5% for type 2. For the assessment of morphologic concordance, we included 120 pairs of first-degree relatives with BAV from our original cohort and the literature review. Concordance was found only in 62% of the pairs which was not significantly higher than expected by chance. In conclusion, our finding demonstrates intrafamilial variability in BAV morphology, suggesting that morphology is determined by factors other than Mendelian genetics. As prognosis differs by morphology, our findings may suggest that clinical outcomes may vary even between first-degree relatives.
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Doença da Válvula Aórtica Bicúspide/diagnóstico por imagem , Doença da Válvula Aórtica Bicúspide/genética , Adulto , Idoso , Doença da Válvula Aórtica Bicúspide/classificação , Ecocardiografia , Família , Feminino , Humanos , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , FenótipoRESUMO
Gallbladder volvulus is a rarely reported and diagnosed condition. We present a case of an elderly female with right lower quadrant pain mimicking acute appendicitis without conclusive imaging; however, due to worsening serological laboratory findings and sepsis picture, an exploratory laparotomy was performed. A necrotic gallbladder was removed, diagnosing gallbladder volvulus. A systemic literature review showed the difficulty in making a diagnosis and the uniqueness of our patient presentation. A high level of clinical suspicion for gallbladder volvulus must be maintained and should be included in the differential diagnosis in elderly women with an acute abdomen, as complications can be severe.
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OBJECTIVE: The purpose of this pictorial essay is to familiarize radiologists with the clinical functioning, proper anatomic positioning, appearance on radiographs and CT scans, potential complications, and MRI safety issues of several implantable noncardiac pacemaker and stimulator devices. CONCLUSIONS: The use of noncardiac pacemakers and stimulators is rapidly increasing because of the utility of these devices in the management of surgically and medically refractory conditions. Unlike cardiac pacemakers, electrical stimulators are MRI compatible under certain circumstances.
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Estimulação Elétrica/efeitos adversos , Estimulação Elétrica/instrumentação , Imageamento por Ressonância Magnética , Próteses e Implantes/efeitos adversos , Radiografia , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , MasculinoRESUMO
BACKGROUND: Left ventricular outflow gradient is associated with increased morbidity and mortality in hypertrophic cardiomyopathy. Alcohol septal ablation is the alternative to surgery in cases refractory to drug therapy. The implication of LVOG measured 1 week post-ASA for prediction of outcome is unknown. OBJECTIVE: To observe the pattern of LVOG course and prediction of long-term clinical and hemodynamic outcome of ASA. METHODS: Baseline clinical and echocardiographic parameters were prospectively recorded in 14 consecutive patients with a first ASA, at the time of ASA, 3 and 7 days after ASA (in-hospital), and 3 and > or = 12 months after ASA (last follow-up). RESULTS: There was improvement in NYHA class, exercise parameters and LVOG in 11 of 14 patients (P < 0.005 in all). Maximal creatine kinase level was lower than 500 U/L in those without such improvement and 850 U/L or higher in successful cases. LVOG dropped from 79 +/- 30 to 19 +/- 6 mmHg after the ASA. LVOG was 50 +/- 21 mmHg on day 3, 39 +/- 26 on day 7, 32 +/- 26 at 3 months and 24 +/- 20 mmHg at last follow-up. LVOG identified 27% sustained procedural successes on day 3 and 73% on day 7. The overall predictive accuracy of the test for sustained success and failure was 36% on day 3 and 71% on day 7. Combination of maximal CK and LVOG on day 7 showed four distinct outcome patterns: "early success" with low LVOG and high CK (73% of successful cases), "late success" with high LVOG and high CK, and "early failure" and "late failure" with both low CK and high or low LVOG, respectively. CONCLUSION: LVOG measurement 7 days post-ASA combined with maximal CK levels predicts late procedural outcome in the majority of patients.
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Cardiomiopatia Hipertrófica/fisiopatologia , Cardiomiopatia Hipertrófica/terapia , Etanol/uso terapêutico , Septos Cardíacos/efeitos dos fármacos , Pacientes Internados , Função Ventricular Esquerda/fisiologia , Pressão Ventricular/fisiologia , Adulto , Idoso , Cateterismo Cardíaco , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Ecocardiografia Doppler , Feminino , Seguimentos , Septos Cardíacos/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Soluções Esclerosantes/uso terapêutico , Índice de Gravidade de Doença , Fatores de Tempo , Resultado do TratamentoRESUMO
The gallbladder can be situated in a variety of anomalous positions. An intrahepatic gallbladder - the second most common ectopic location of the gallbladder - is one that is completely embedded within the liver parenchyma. Described in the literature as early as 1935, intrahepatic gallbladders predominantly result from a developmental anomaly but in some instances have been reported to be secondary to chronic inflammation. The significance of an intrahepatic gallbladder lies in the fact that 60% of the cases are associated with gallstones and may present a challenge for the general surgeon during cholecystectomy and other biliary operations in addition to causing misdiagnosis on imaging. Intrahepatic gallbladders are unusual, but the incidence of an intrahepatic gallbladder with a cholecystogastric fistula is rare. Cholecystogastric fistulas commonly are a complication of long-term cholelithiasis or chronic cholecystitis with subsequent gallstone ileus. Herein, we present the case of an 80-year-old man who presented with 2 months of progressive weakness, fatigue, decreased appetite, and intermittent right-sided abdominal pain, and was found to have a markedly distended and irregular intrahepatic gallbladder measuring 12.2 × 11.5 × 13.4 cm on CT, as well as a cholecystogastric fistula on esophagogastroduodenoscopy. During esophagogastroduodenoscopy, the gallbladder was entered directly via the fistulous tract. The patient was on i.v. antibiotics with tube feeds via a nasojejunal tube initially, followed by p.o. which he tolerated. He was eventually discharged with referral for surgical evaluation. Given the potential for cholelithiasis and fistulation, physicians should have a high index of suspicion and recommend timely endoscopic and/or surgical management to avoid future complications.