Amyloid Cardiomyopathy : Establishing a Patient Referral Center in Brazil
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ABSTRACT:
SUBMITTER: Szor R
PROVIDER: S-EPMC8543090 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:PurposeCOVID-19 is associated with high morbidity and mortality in patients undergoing surgery. Contrary to elective procedures, emergency operations should not be postponed. We aim to evaluate the profile and outcomes of COVID-19 patients who underwent emergency abdominal surgery.MethodsWe performed a retrospective analysis of perioperative data of COVID-19 patients undergoing emergency surgery from April 2020 to August 2020.ResultsEighty-two patients were evaluated due to abdominal complaints, yielding 22 emergency surgeries. The mean APACHE II and SAPS were 18.7 and 68, respectively. Six patients had a PaO2/FiO2 lower than 200 and more than 50% of parenchymal compromise on chest tomography. The most common indications for emergency surgery were hernias (6; 27.2%). The median length of stay was 30 days, and only two patients required reoperation. Postoperatively, 10 (43.3%) patients needed mechanical ventilation for a mean of 6 days. The overall mortality rate was 31.8%.ConclusionBoth postoperative morbidity and mortality are high in COVID-19 patients with respiratory compromise and abdominal emergencies.
| S-EPMC7903871 | biostudies-literature
Project description:IntroductionEpilepsy affects about 50 million people worldwide, 80% of whom live in low- and middle-income countries. In Brazil, epidemiological studies are outdated and restricted to specific regions, mostly due to the continental size of country.ObjectiveWe aimed to present the first evidence-based study on the epidemiological aspects of individuals with epilepsy, mapping the characteristics of this disease in a referral center in a region of Southeast Brazil.MethodsA retrospective study was carried out from January 2010 to March 2021. Patients were selected according to the International League Against Epilepsy Criteria.ResultsFrom a total of 618 selected patients, 317 (51.3%) were men and 301 (48.7%) were women with an average age of 34.03 ± 20.66 years. The average age at the first seizure was 15.16 ± 17.61 years. The prevalence ratio was 1.30 cases/1,000 habitants. Childhood febrile seizure was present in 44 patients (7.9%) and family history of epilepsy in 231 (37.4%) patients. The predominant type of seizure was focal in 401 (64.9%) patients. The most frequent etiologies were structural in 254 (41.1%) patients and unknown in 238 (38.5%) patients. Most of the patients' treatments were based on anti-seizure drugs in monotherapy [389 (62.9%)] with 398 (64.4%) drug-responsive patients.ConclusionsOur epilepsy prevalence rate was lower than other studies in the Southeast Region of Brazil. In addition, the structural epilepsy type was predominant in our study compared with unknown causes, which is more frequent in other Brazilian regions and worldwide studies. The differences may be attributed to our region, which presents a high prevalence of neuroinfection, specially neurocysticercosis, and a referral center for traumatic brain injury. Moreover, the contrasting results reinforce the need for an adequate epidemiological assessment of epilepsy incidence in a region of Southeast Brazil.
| S-EPMC9128524 | biostudies-literature
Project description:BackgroundHereditary transthyretin amyloid cardiomyopathy (ATTR-CM) is a genotypically heterogeneous disorder with a poor prognosis. There is limited literature describing the variants responsible for ATTRv in areas outside the United State, the United Kingdom and Europe. This study was performed to describe the clinical characteristics and genotypic profiles of this disease in South China.MethodsThis was a single-center retrospective study that evaluated 29 patients with a confirmed diagnosis of hereditary transthyretin amyloid cardiomyopathy enrolled from January 2016 to November 2021.Results93.1% patients were male and the median age of symptom onset was 53 (46, 62.5) years old. The initial manifestations of ATTR-CM were cardiovascular symptoms (55.2%), neuropathy (41.4%) and vitreous opacity (3.4%). Phenotypes at diagnosis were mixed (82.8%), predominant cardiac (6.9%), neurological (6.9%) and ophthalmic (3.4%). Poor R-wave progression (41%), pseudo-infarct (31%) and low-voltage (31%) patterns were common findings on electrocardiogram. Unexplained increased wall thickness was observed in all 29 patients, with mean septal and posterior wall thicknesses of 14.25 ± 6.26 mm and 15.34 ± 2.84 mm, respectively. Diastolic dysfunction was also seen in all 29 patients, and 17 (58%) had a restrictive fill pattern at diagnosis. Nine different missense mutations of the TTR gene were found in 29 patients from 23 families, with c.349G>T (p.Ala117Ser) the most common mutation. The median survival time after diagnosis was 47.6 (95% CI 37.9-57.4) months, with 1, 3 and 5-year survival rates of 91.2%, 74% and 38% respectively. Patients with advanced heart failure (National Amyloidosis Staging stage II/III) had worse survival than stage I [Breslow (Generalized Wilcoxon), χ2 = 4.693, P = 0.03)].ConclusionsATTR amyloidosis genotypes and phenotypes are highly heterogeneous. Advanced heart failure predicts a poor prognosis. Understanding the different clinical profiles of ATTR cardiac amyloidosis with different genotype is important to its early recognition.
| S-EPMC9271707 | biostudies-literature
Project description:Wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM) has received increased attention because of its novel treatment options. Carpal tunnel syndrome (CTS) is known as early symptoms in transthyretin amyloidosis (ATTR) preceding cardiac involvement and one of the "red flags" for ATTR-CM. A 64-year-old man underwent carpal tunnel release for carpal tunnel syndrome at 62 years. He was diagnosed with wild-type ATTR due to deposition of transthyretin (TTR) amyloid in flexor tenosynovium specimens and no TTR gene mutation. Examination for detection of cardiac involvement was performed after the operation, and there were no definitive findings of ATTR-CM; however, an early stage of ATTR-CM remained a possibility. Serial image evaluation and biomarker analysis revealed positive findings for ATTR-CM, and we performed an endomyocardial biopsy, resulting in the detection of amyloid deposition. He was diagnosed with ATTRwt-CM 2 years after the operation, and even then, he had no heart failure symptoms. Early diagnosis and treatment are important for the improvement of clinical outcomes in patients with ATTRwt-CM. TTR deposition in the ligaments or tendons is often observed in patients with CTS and should be considered at high risk of future ATTR-CM. Serial follow-up of these patients may enable the diagnosis of preclinical ATTR-CM. <Learning objective: Bilateral carpal tunnel syndrome (CTS) patients with transthyretin deposition in surgically-excised specimens are considered to be at high risk of future transthyretin amyloid cardiomyopathy (ATTR-CM). Serial evaluation of imaging results and cardiac biomarkers are useful for the diagnosis of preclinical ATTR-CM.>.
| S-EPMC8617475 | biostudies-literature
Project description:Transthyretin amyloid cardiomyopathy (ATTR-CM) continues to be an easily overlooked, life-threatening, yet treatable cause of heart failure. Furthermore, its elusive diagnosis leads to late or misdiagnosis. As therapeutic advancements such as tafamidis usher in a promising new era in the management of ATTR-CM, the need for disease awareness and efficient diagnostic evaluation is crucial. With newer inexpensive imaging modalities and techniques, such as longitudinal strain imaging, T1 mapping on cardiac magnetic resonance imaging, and cardiac scintigraphy, the diagnosis of ATTR-CM no longer requires invasive evaluation with tissue biopsy. Here, the authors review current diagnostic tools to help clinicians diagnose ATTR-CM.
| S-EPMC7237598 | biostudies-literature
Project description:OBJECTIVE:To describe our experience with office removal of nonpalpable contraceptive implants at our referral center. METHODS:We performed a retrospective cohort study by reviewing the charts of patients referred to our family planning specialty center for nonpalpable or complex contraceptive implant removal from January 2015 through December 2018. We localized nonpalpable implants using high-frequency ultrasonography and skin mapping in radiology, followed by attempted removal in the office using local anesthesia and a modified vasectomy clamp. We abstracted information on demographics, implant location, and outcomes. RESULTS:Of 61 referrals, 55 patients attended their scheduled appointments. Seven patients had palpable implants; six elected removal. The other 48 patients had ultrasound localization, which identified 47 (98%) of the implants; the remaining patient had successful localization with computed tomography imaging. Nonpalpable implants were suprafascial (n=22), subfascial (n=25) and intrafascial (n=1); four of these patients opted to delay removal. Of 50 attempted office removals, all palpable (n=6), all nonpalpable suprafascial (n=21 [100%, 95% CI 83-100%]), and 19 out of 23 (83%, 95% CI 67-98%) subfascial implants were successful. Three of the four patients with failed subfascial implant office removal had successful operating room removal with a collaborative orthopedic surgeon; the other patient sought removal elsewhere. Transient postprocedure neuropathic complaints were noted in 7 out of 23 (30%, 95% CI 12-49%) subfascial and 1 out of 21 (5%, 95% CI 0-13%) suprafascial removals (P=.048). Nonpalpable implants were more likely to be subfascial in nonobese patients (24/34, 71%) as compared with obese (1/13, 8%) patients (P<.001). Seven (28%) of the 25 subfascially located implants had been inserted during a removal-reinsertion procedure through the same incision. CONCLUSION:Most nonpalpable contraceptive implants can be removed in the office by an experienced subspecialty health care provider after ultrasound localization. Some patients may experience transient postprocedure neuropathic pain. Nonpalpable implants in thinner women are more likely to be in a subfascial location.
| S-EPMC6768758 | biostudies-literature
Project description:AimsAlthough systemic embolism is a potential complication in transthyretin amyloid cardiomyopathy (ATTR-CM), data about its incidence and prevalence are scarce. We studied the incidence, prevalence and factors associated with embolic events in ATTR-CM. Additionally, we evaluated embolic events according to the type of oral anticoagulation (OAC) and the performance of the CHA2 DS2 -VASc score in this setting.Methods and resultsClinical characteristics, history of atrial fibrillation (AF) and embolic events were retrospectively collected from ATTR-CM patients evaluated at four international amyloid centres. Overall, 1191 ATTR-CM patients (87% men, median age 77.1 years [interquartile range-IQR 71.4-82], 83% ATTRwt) were studied. A total of 162 (13.6%) have had an embolic event before initial evaluation. Over a median follow-up of 19.9 months (IQR 9.9-35.5), 41 additional patients (3.44%) had an embolic event. Incidence rate (per 100 patient-years) was 0 among patients in sinus rhythm with OAC, 1.3 in sinus rhythm without OAC, 1.7 in AF with OAC, and 4.8 in AF without OAC. CHA2 DS2 -VASc did not predict embolic events in patients in sinus rhythm whereas in patients with AF without OAC, only those with a score ≥4 had embolic events. There was no difference in the incidence rate of embolism between patients with AF treated with vitamin K antagonists (VKAs) (n = 322) and those treated with direct oral anticoagulants (DOACs) (n = 239) (p = 0.66).ConclusionsEmbolic events were a frequent complication in ATTR-CM. OAC reduced the risk of systemic embolism. Embolic rates did not differ with VKAs and DOACs. The CHA2 DS2 -VASc score did not correlate well with clinical outcome in ATTR-CM and should not be used to assess thromboembolic risk in this population.
| S-EPMC9542906 | biostudies-literature
Project description:Takotsubo cardiomyopathy (TCM) is a condition characterized by transient left ventricular dysfunction and apical ballooning, best seen on an echocardiogram or left ventriculogram. It mimics acute myocardial infarction but without evidence of coronary artery disease on an angiogram. Hypertrophic cardiomyopathy (HCM) is an autosomal dominant heart muscle disease that is significant with hypertrophy of the left ventricle with various morphologies. We hereby report a case of TCM in a male patient with a known history of HCM. The patient's hemodynamic findings were challenging because the TCM produced an increased left ventricular outflow tract (LVOT) gradient that was previously not seen on his prior echocardiogram or cardiac catheterizations. Assessment and continuous monitoring are warranted in such a rare case. Supportive care afterward with beta blockers, along with echocardiogram surveillance, are the mainstay of management of such a patient.
| S-EPMC6333265 | biostudies-other
Project description:BackgroundCOVID-19 is the first global pandemic in more than 100 years, and at its onset, the effects were largely unknown. Immunocompromised patients, including IBD, were presumed to have higher risk.AimsWe hypothesized patients with IBD would have higher-than-baseline anxiety, high perceived vulnerability and significant lifestyle impacts as a result of the pandemic. We sought to assess the impact of these changes on disease and management.MethodsA cross-sectional study of patients with Crohn's disease, ulcerative colitis and IBD-unspecified was conducted. Patients were invited to participate by email in an IRB-approved brief, voluntary survey. Survey questions focused on disease characteristics, healthcare access and self-reported psychological well-being.ResultsResponses from 492 (CD = 337, UC = 141,IC = 14) patients were included in the analysis. The majority of patients with IBD had increased anxiety since the pandemic, which correlated with an increase in GI symptoms. This risk of symptoms was mitigated by communication with their provider. Many patients had lifestyle changes including requesting time off work due to perceived vulnerability and changes in eating habits.ConclusionsOur findings support an increase in illness-associated anxiety and perceived vulnerability among patients with IBD during the COVID-19 pandemic. Open communication with providers is important to maintain adequate control of disease and reduce symptoms of flares triggered by ongoing stress.
| S-EPMC8193011 | biostudies-literature
Project description:We retrospectively reviewed 488 fetuses who diagnosed with FGR and without structural malformation during a 10-year period. A total of 19 (3.9%) cases of chromosomal anomalies were detected, including 11 cases of numerical abnormalities, 5 of structural abnormalities, and 3 of mosaicism. We classified the cohort into cases diagnosed at ≤24, 25-28, 29-32, and > 32 weeks of gestation according to the onset gestations; isolated FGR, FGR with soft markers, and FGR with nonstructural anomalies according to different ultrasound findings; high and low-risk maternal serum screening (MSS) groups based on the MSS results. The results suggested that abnormal karyotypes were more frequently detected in cases diagnosed at ≤24 weeks (7.2%), cases with soft markers (5.2%), and cases with high-risk MSS (7.5%) than in other groups within each classification. Among cases with normal karyotype, additional 4.2% of clinically relevant aberrations were detected by SNP array. The incremental yields in cases diagnosed at ≤24 weeks (6.5%), cases with soft markers (9.5%), and cases with high-risk MSS (12.0%) were higher than those in other groups within each classification. We concluded that fetal chromosomal aberration is an important etiology for FGR without structural malformation, and plays an important role in pregnancies decision-making. SNP array improves the detection of genetic anomalies especially in fetuses diagnosed at ≤24 weeks, fetuses with soft makers, and fetuses with high risk of MSS.
2022-09-20 | GSE211577 | GEO