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Procalcitonin is gaining momentum in the study of protozoal sepsis, but its utility as a biomarker has yet to be fully discovered in human babesiosis. A total of 33 cases of acute babesiosis dating between 2012 and 2019 were retrospectively collected from Stony Brook University Hospital (SBUH) and Stony Brook South Hampton Hospital (SHH), both of which are located on Long Island, NY. Cases were cross-referenced for the need for ICU admission, and the procalcitonin levels were measured by the use of BRAHMS Elecsys assay at SBUH and BRAHMS Architect assay at SHH. Our study demonstrated that the log-transformed procalcitonin levels had a linear correlation with log-transformed maximum parasitemia, which suggests that procalcitonin directly correlates with parasitemia values. Furthermore, when comparing values that predict ICU admission, our ROC analysis of procalcitonin demonstrated similar AUC values to the percentage of parasitemia, suggesting that procalcitonin may assist in determining the severity of disease. We demonstrate that procalcitonin may directly correlate with the parasitemia percentage and have prognostic capabilities, which suggests that procalcitonin may have biomarker potential in human babesiosis.
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Childhood adversity is associated with the development or expression of many neuropsychiatric disorders, including those with strong genetic underpinnings. Despite reported associations between perceived stress and tic severity, the relationship between potentially traumatic events in childhood and Tourette Syndrome (TS), a highly heritable neuropsychiatric disorder, is unknown. This study aimed to assess whether exposure to eight categories of adverse childhood experiences (ACEs) is associated with TS severity and impairment, and whether TS genetic risk modifies this association. Online survey data were collected from 351 adult males with TS who previously participated in genetic studies. Participants completed the ACE questionnaire and a lifetime version of the Yale Global Tic Severity Scale (YGTSS). Demographic and relevant health data were assessed; polygenic risk scores (PRS) measuring aggregated TS genetic risk were derived using genome-wide association data. Univariable and multivariable linear regressions examined the relationships between childhood adversity and retrospectively recalled worst-ever tic severity and impairment, adjusting for covariates. Potential gene-by-environment (GxE) interactions between ACE and PRS were estimated. After covariate adjustment, there was a significant graded dose-response relationship between ACE Scores and increases in lifetime worst-ever tic severity and impairment. There was some evidence that TS genetic risk moderated the relationship between ACE Score and tic impairment, but not tic severity, particularly for individuals with higher TS polygenic risk. We provide evidence that childhood adversity is associated with higher lifetime TS severity and impairment, although future longitudinal studies with genetically-sensitive designs are needed to determine whether these relationships are causal and/or directional.
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Experiências Adversas da Infância , Tiques , Síndrome de Tourette , Adulto , Estudo de Associação Genômica Ampla , Humanos , Masculino , Estudos Retrospectivos , Índice de Gravidade de Doença , Síndrome de Tourette/diagnósticoRESUMO
BACKGROUND Pheochromocytomas are catecholamine-secreting tumors that develop within the chromaffin cells of the adrenal glands. They most commonly present with hypertension, and the classic triad of symptoms is headaches, palpitations, and diaphoresis. Electrical storm (ES) is defined as at least 3 sustained episodes of ventricular tachycardia (VT), ventricular fibrillation (VF), or appropriate shocks from an implanted cardioverter-defibrillator (ICD) within 24 h. We discuss the case of a 63-year-old man with known bilateral pheochromocytomas who presented with ES prompting multiple ICD shocks, possibly exacerbated by catecholamine surge from his adrenal tumors. CASE REPORT The patient was a 63-year-old man with an extensive medical history including ischemic cardiomyopathy and congestive heart failure with reduced ejection fraction presented with multiple syncopal episodes secondary to persistent monomorphic ventricular tachycardia (MMVT), polymorphic ventricular tachycardia (PMVT), and VF requiring ICD shocks. He had known bilateral pheochromocytomas. ES was attributed to catecholamine excess in the setting of these tumors, so VT ablation was deferred pending tumor removal. Alpha blockade was initiated preoperatively, and the patient subsequently underwent bilateral adrenalectomy; however, he continued to sustain tachyarrhythmias and eventually died despite resuscitative efforts. CONCLUSIONS Bilateral pheochromocytomas are rare adrenal tumors. In even more infrequent situations, they can cause ES secondary to adrenergic stimulation from catecholamine surges. It is worth considering pheochromocytoma in patients with refractory ES, as treating these tumors could potentially reduce the frequency of this dangerous arrhythmia.
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Neoplasias das Glândulas Suprarrenais , Desfibriladores Implantáveis , Feocromocitoma , Taquicardia Ventricular , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Feocromocitoma/complicações , Feocromocitoma/terapia , Taquicardia Ventricular/etiologia , Taquicardia Ventricular/terapia , Fibrilação Ventricular/etiologia , Fibrilação Ventricular/terapiaRESUMO
INTRODUCTION: Large bowel obstruction (LBO) warrants prompt evaluation and management. Although causes of LBO are most commonly intrinsic to the colon (e.g. malignancy, diverticular stricture, intussusception or volvulus), rare extrinsic etiologies exist. An extremely rare extrinsic etiology of LBO described only once, is compressive splenic hematoma. PRESENTATION OF CASE: A 64-year-old female presented to the emergency department complaining of two days of diffuse abdominal pain and distension, watery diarrhea and nausea subsequent to a mechanical fall to her left side. Computed tomography demonstrated a grade 3 splenic hematoma with active extravasation, causing extrinsic compression and obstruction of the colon. Embolization of the splenic artery was performed, and non-operative LBO management resulted in resumption of normal bowel function after six days. DISCUSSION: To our knowledge, the only other case of colonic compression by splenic hematoma (a case report in the radiology literature from 1994) describes a 62-year-old male whose symptoms similarly spontaneously resolved. Increasing frequency of non-operative management of splenic trauma may result in increased frequency of splenic hematoma complications. Physicians and surgeons who treat LBO should be aware of this rare etiology and its potential for non-operative management. CONCLUSION: Our case demonstrates the importance of considering splenic hematoma as an etiology of LBO, particularly in the setting of trauma and that management of this entity can be successfully non-operatively.
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Ectopic pregnancy is a life-threatening condition affecting up to 2% of gestations. Implantation in the fallopian tube is most common, with symptoms typically presenting earlier for gestations in the ampulla and isthmus compared with the cornua and non-tubal sites. In this paper, the cases are described of two patients with advanced ectopic pregnancies that ruptured. One woman aged 36â¯years presented at 17 1/7â¯weeks' gestation with a ruptured cornual ectopic pregnancy. The other woman, aged 35â¯years, presented at 11 1/7' weeks gestation with a ruptured ectopic pregnancy in the left tubal ampulla. To our knowledge, there are no other reported cases of a tubal ampulla pregnancy presenting at such an advanced gestation with no prior symptoms.
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Trichotillomania/hair pulling disorder (HPD) and excoriation/skin picking disorder (SPD) are childhood-onset, body-focused repetitive behaviors that are thought to share genetic susceptibility and underlying pathophysiology with obsessive-compulsive disorder (OCD) and Tourette syndrome (TS). We sought to determine the prevalence of DSM-5 HPD and SPD in TS patients, and to identify clinical factors most associated with their co-morbidity with TS. Participants included 811 TS patients recruited from TS specialty clinics for a multi-center genetic study. Patients were assessed using standardized, validated semi-structured interviews. HPD and SPD diagnoses were determined using a validated self-report questionnaire. HPD/SPD prevalence rates were calculated, and clinical predictors were evaluated using regression modeling. 3.8 and 13.0% of TS patients met DSM-5 criteria for HPD and SPD, respectively. In univariable analyses, female sex, OCD, and both tic and obsessive-compulsive symptom severity were among those associated with HPD and/or SPD. In multivariable analyses, only lifetime worst-ever motor tic severity remained significantly associated with HPD. Female sex, co-occurring OCD, ADHD, and motor tic severity remained independently associated with SPD. This is the first study to examine HPD and SPD prevalence in a TS sample using semi-structured diagnostic instruments. The prevalence of HPD and SPD in TS patients, and their association with increased tic severity and co-occurring OCD, suggests that clinicians should screen children with TS and related disorders for HPD/SPD, particularly in females and in those with co-occurring OCD. This study also helps set a foundation for subsequent research regarding HPD/SPD risk factors, pathophysiology, and treatment models.
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Transtorno Obsessivo-Compulsivo/etiologia , Comportamento Autodestrutivo/etiologia , Síndrome de Tourette/diagnóstico , Tricotilomania/etiologia , Criança , Comorbidade , Feminino , Humanos , Masculino , Prevalência , Inquéritos e Questionários , Síndrome de Tourette/patologiaRESUMO
Collecting phenotypic data necessary for genetic analyses of neuropsychiatric disorders is time consuming and costly. Development of web-based phenotype assessments would greatly improve the efficiency and cost-effectiveness of genetic research. However, evaluating the reliability of this approach compared to standard, in-depth clinical interviews is essential. The current study replicates and extends a preliminary report on the utility of a web-based screen for Tourette Syndrome (TS) and common comorbid diagnoses (obsessive compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD)). A subset of individuals who completed a web-based phenotyping assessment for a TS genetic study was invited to participate in semi-structured diagnostic clinical interviews. The data from these interviews were used to determine participants' diagnostic status for TS, OCD, and ADHD using best estimate procedures, which then served as the gold standard to compare diagnoses assigned using web-based screen data. The results show high rates of agreement for TS. Kappas for OCD and ADHD diagnoses were also high and together demonstrate the utility of this self-report data in comparison previous diagnoses from clinicians and dimensional assessment methods.
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Internet , Programas de Rastreamento , Fenótipo , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/genética , Adolescente , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Criança , Comorbidade , Feminino , Testes Genéticos , Humanos , Entrevista Psicológica , Masculino , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtorno Obsessivo-Compulsivo/genética , Transtorno Obsessivo-Compulsivo/psicologia , Reprodutibilidade dos Testes , Síndrome de Tourette/psicologia , Adulto JovemRESUMO
The aim of this study was to refine the population prevalence estimate of Tourette Syndrome (TS) in children and to investigate potential sources of heterogeneity in previously published studies. A systematic review was conducted and all qualifying published studies of TS prevalence were examined. Extracted data were subjected to a random-effects meta-analysis weighted by sample size; meta-regressions were performed to examine covariates that have previously been proposed as potential sources of heterogeneity. Twenty-six articles met study inclusion criteria. Studies derived from clinically referred cases had prevalence estimates that were significantly lower than those derived from population-based samples (P = 0.004). Among the 21 population-based prevalence studies, the pooled TS population prevalence estimate was 0.52% (95% confidence interval CI: 0.32-0.85). In univariable meta-regression analysis, study sample size (P = 0.002) and study date (P = 0.03) were significant predictors of TS prevalence. In the final multivariable model including sample size, study date, age, and diagnostic criteria, only sample size (P < 0.001) and diagnostic criteria (omnibus P = 0.003; Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision [DSM-IV-TR]: P = 0.005) were independently associated with variation in TS population prevalence across studies. This study refines the population prevalence estimate of TS in children to be 0.3% to 0.9%. Study sample size, which is likely a proxy for case assessment method, and the use of DSM-IV-TR diagnostic criteria are the major sources of heterogeneity across studies. The true TS population prevalence rate is likely at the higher end of these estimates, given the methodological limitations of most studies. Further studies in large, well-characterized samples will be helpful to determine the burden of disease in the general population.