Initial Presentation Of Patients Research Articles

ST segment elevation myocardial infarction as a presenting feature of thrombotic thrombocytopenic purpura

Myocardial infarction with ST segment elevation (STE) on electrocardiography (ECG) is a common presentation in emergency rooms across the world. Myocardial injury and necrosis are infrequently the initial presentation in patients with thrombotic thrombocytopenic purpura (TTP). A 48-year-old woman presented with STE myocardial infarction from outside hospital for primary percutaneous coronary intervention. However, her clinical picture was not consistent. Rapid evaluation revealed symptoms associated with microangiopathic hemolytic anemia, thrombocytopenia, acute kidney injury with waxing and waning mental status. A diagnosis of TTP was made with low ADAMST-13 activity. Plasmapheresis was initiated along with intravenous steroid therapy. The patient had a full recovery and went home after full recovery of left ventricular ejection fraction and normal myocardial perfusion studies. Rapid evaluation is needed to identify infrequent causes of STE myocardial infarction. As swift protocols are activated in the emergency room and catheterization laboratories to ensure quality control, it is equally important to integrate all aspects of the patient's clinical and objective data to detect unusual disease entities.

Utility of ultrasound for evaluating the appendix during the second and third trimester of pregnancy

This study aims to retrospectively evaluate the right lower quadrant ultrasounds in women presenting during the second or third trimester of pregnancy for the frequency of appendix visualization and accuracy in diagnosing appendicitis. Institutional Review Board approval was obtained for this Health Insurance Portability and Accountability Act-compliant study. We reviewed imaging records from 99 consecutive pregnant women from 2001 to 2011 who presented during the second (≥14 weeks gestation) or third trimester for right lower quadrant ultrasound to evaluate the appendix. Visualization of the appendix as well as the size and compressibility, if identified, were recorded. The medical records and labs related to the initial patient presentation, subsequent management, and follow-up were reviewed for surgical and clinical outcomes. Pathology records were reviewed to determine if appendicitis was present when appendectomy was performed. Patients who underwent appendectomy were considered to have appendicitis based on pathology results, and patients managed non-operatively with symptom improvement and those with a normal appendix at pathology were considered to not have appendicitis. During the study period, 99 women meeting inclusion criteria presented to our institution for right lower quadrant ultrasound to evaluate the appendix during the second or third trimester of pregnancy. The mean gestational age at presentation was 23 weeks (±7 weeks). The mean maternal age was 28 years (±6.6 years). The appendix was not visualized in 97% (96/99) of right lower quadrant ultrasound examinations. Of the three studies in which the appendix was visualized, two were considered positive for appendicitis and one was considered negative. Eight patients in this group ultimately underwent appendectomy, including the two patients with positive right lower quadrant ultrasounds, and appendicitis confirmed at pathology in seven of these cases (87.5%). Right lower quadrant ultrasound successfully demonstrated an abnormal appendix in 28.7% (two of seven) of surgically confirmed cases; however, this technique did not detect appendicitis in 71% (five of seven) of patients with surgically proven disease due to nonvisualization of the appendix. Retrospective review of right lower quadrant ultrasounds performed during the second and third trimester of pregnancy suggests that this modality has limited utility for diagnosing appendicitis due to infrequent visualization of the appendix.

Epileptic seizures at initial presentation in patients with brain arteriovenous malformation

Brain arteriovenous malformations (AVMs) often present with epileptic seizures, but prospective data on the risk of seizures with respect to morphologic AVM characteristics are scarce. We studied 155 consecutive patients with AVMs from a prospective, single-center database using demographic and morphologic factors based on prospectively coded MRI and digital subtraction angiography (DSA) data. Univariate analysis and multivariate logistic regression models were used to test the effect of demographic (age and sex) and morphologic characteristics (AVM size, anatomic and arterial location, and venous drainage pattern) on seizures as initial presentation in patients with unruptured brain AVMs. Overall, 45 patients with AVMs initially presented with seizures (29%). By univariate comparison, male sex (p = 0.02), increasing AVM size (p < 0,006), frontal lobe localization (p < 0.0001), arterial borderzone location (p < 0.0006), superficial venous drainage (p = 0.0002), and presence of venous ectasia (p = 0.003) were statistically associated with seizures. The multivariate analysis confirmed an independent effect of male sex, frontal lobe AVMs, and arterial borderzone location on seizure occurrence. All patients with seizures showed the presence of a superficial venous drainage component. Our study suggests that seizures mainly occur in AVMs with superficial drainage. Other predisposing factors include male sex, increasing AVM size, and frontal lobe and arterial borderzone location. Whether or not interventional treatment has an effect on the long-term risk of epilepsy remains to be determined.

Parotidectomy: A 17-Year Institutional Experience at a Rural Academic Medical Center

We describe the parotidectomy experience at a single rural institution over 17 years. We retrieved the records of all patients who underwent parotidectomy for any nontrauma indication (current procedural terminology codes 42410, 42415, 42420, 42425, and 42426) from January 1990 to June 2007 at Dartmouth-Hitchcock Medical Center, a rural medical center that provides both primary and tertiary care to a local population of 14,000, with a catchment area of 600,000 people. Information was collected on initial patient presentation, use of fine-needle aspiration, extent of surgery, final pathologic diagnosis, and complications. We performed 341 parotidectomy procedures in 334 patients. The largest number of malignancies came from metastatic tumors; squamous cell carcinoma was the most common (37% of malignancies). The most common presenting complaint overall was a painless mass. The most common complication was facial weakness in 17% (57 of 341); 36 of the 57 cases of facial weakness (63%) were associated with surgery for malignancy. The most common benign tumor was pleomorphic adenoma (114 of 186; 61%). Mucoepidermoid carcinoma was the most common primary parotid malignancy (12%). In this 17-year rural case series of all parotidectomy procedures done for nontrauma indications, the largest number of malignancies came from metastatic tumors. Although facial nerve paralysis is not a common complication, it occurs most often when surgery is performed for either primary or metastatic malignancy. Surgeons will benefit from this information as they counsel patients who are considering parotidectomy.

Pathological and molecular biological approaches to early mesothelioma

Malignant mesothelioma is an asbestos-related malignancy that arises primarily from mesothelial cells on the serosal surfaces of the pleural, peritoneal, and pericardial cavities. Malignant pleural mesothelioma (MPM) is most common, and its incidence is dramatically increasing worldwide as a result of widespread use of asbestos. Morphological discrimination between MPM and reactive mesothelial hyperplasia is difficult, and the most reliable pathological criterion for malignancy is mesothelial proliferation invading deeply into subpleural adipose tissues. To establish radical cure of MPM, it is crucial to find early-stage MPM of epithelial type, in which mesothelial proliferation is localized on the serosal surface of parietal pleura or limited within the submesothelial fibrous tissues of parietal pleura. The initial clinical presentation for patients with MPM is frequently dyspnea and/or chest pain due to large pleural effusion, and cytological analysis of pleural effusions is valuable to find patients with early-stage MPM of epithelial type. Recently, cytological features of MPM in pleural effusion, molecular markers for MPM, and genetic alternations of MPM have been reported. In this review, we discuss major issues on pathological and molecular biological approaches for diagnosis of early-stage MPM of epithelial type.

Disparities in the Initial Presentation of Differentiated Thyroid Cancer in a Large Public Hospital and Adjoining University Teaching Hospital

Healthcare disparities associated with insurance and socioeconomic status have been well characterized for several malignancies, such as lung cancer. To assess whether there are healthcare disparities in thyroid cancer, this study evaluated the stage on initial presentation of patients with differentiated thyroid cancer (DTC) in a public versus university teaching hospital. A retrospective chart review was performed to identify patients with a new diagnosis of DTC from January 1, 2007, to January 1, 2010, in a large public and adjoining university teaching hospital at a single academic medical center. Medical records were reviewed for demographics, pathology, and American Joint Committee on Cancer tumor-node-metastasis stage at initial presentation. There were 49 cases of well-DTC (96% papillary and 4% Hürthle) in the public hospital and 370 cases (95% papillary, 2% Hürthle, and 3% follicular) in the university teaching hospital. Median age (years) at presentation was 50 in the public versus 48 in the university teaching hospital (p=0.39). Ninety-six percent of public hospital patients were from ethnic minorities compared with 16% of university teaching hospital patients (p<0.0001). Only 1 (2%) public hospital patient had private insurance compared with 85% of university teaching hospital patients. Tumor status (p=0.002) and stage (p=0.03) were more advanced and extrathyroidal extension (p=0.02) was more prevalent among public hospital patients compared with university teaching hospital patients. In a multivariable analysis, public hospital, male gender, increasing age, advanced tumor status, and the presence of lymphovascular invasion were the best predictors of more advanced disease stage. Public hospital patients were 3.4 times more likely to present with advanced DTC than university teaching hospital patients of the same age, gender, tumor status, and lymphovascular invasion status (95% confidence interval 1.29-8.95). In a public hospital, where the patient population is defined primarily by insurance status, patients were more likely to present with advanced-stage DTC than patients presenting to an adjacent university teaching hospital. These results suggest a disparity in the stage on initial presentation of DTC, possibly resulting in a delayed diagnosis of cancer.

New Onset Psychosis and Limbic Encephalitis

Back to table of contents Previous article Next article LettersFull AccessNew Onset Psychosis and Limbic EncephalitisAlmari Ginory, Indira Horst, Mitali Patnaik, Leticia Delgado, and Joseph HenryAlmari GinorySearch for more papers by this author, Indira HorstSearch for more papers by this author, Mitali PatnaikSearch for more papers by this author, Leticia DelgadoSearch for more papers by this author, and Joseph HenrySearch for more papers by this authorPublished Online:1 Apr 2012https://doi.org/10.1176/appi.neuropsych.11030069AboutSectionsPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack Citations ShareShare onFacebookTwitterLinked InEmail To the Editor: Limbic encephalitis is characterized as a syndrome of acute to subacute onset with neuropsychiatric symptoms and medial temporal lobe abnormalities on MRI and/or EEG.1, 2 Symptoms include sleep changes, confusion, irritability, hallucinations, depression, personality changes, and cognitive impairment.1 Most common causes are infectious, autoimmune, and paraneoplastic.2 Herein, we present a case of limbic encephalitis with an initial presentation of psychosis which was previously misdiagnosed as medication induced psychosis and bipolar disorder.Case ReportA 48 year old married Hispanic female presents with a one month history of intermittent psychotic symptoms which began after starting treatment for bronchitis. Prior to this, she had no psychiatric history and had a high level job as editor of a local newspaper. She was started on a 7 day course of Fluticasone/Salmeterol and Montelukast by her pulmonologist, and soon after, began having auditory hallucinations and religious delusions. She was admitted to a local psychiatric hospital and was diagnosed as having had an adverse reaction to Montelukast. The medications were discontinued and she was discharged with no psychotropic medications. After discharge, she continued to have psychotic symptoms and was admitted to a second local hospital. Basic labs and CT head were normal. On MRI, she was found to have a 6mm enhancing lesion in the right posterior lentiform nucleus and on EEG was found to have right temporal sharp waves. She showed improvement in psychotic symptoms and was allowed to sign out AMA prior to completion of the work-up. One week later, the psychotic symptoms persisted and she was brought to the Mental Health Crisis at Jackson Memorial Hospital involuntarily by police. On initial presentation, she was grossly psychotic with auditory hallucinations and religious delusions. She had discrete episodes of agitation, religiosity, and aggression toward self and others with no subsequent recollection of the events. She was started on Olanzapine 10mg daily and Divalproex 500mg bid. Due to the abnormal presentation of her symptoms, hospital records were obtained and the neurology service was consulted. Upon review of the records and neurological evaluation, she was diagnosed with limbic encephalitis and immediately transferred to the neurology service for further evaluation and initiation of IV acyclovir therapy.DiscussionThis case illustrates that psychiatric symptoms, such as psychosis, can be part of the initial presentation in patients with limbic encephalitis. It is vital to exclude neurological diseases in patients with no known history of psychiatric illness, presenting with acute onset psychosis and personality changes.3 A prodomal period resembling viral illness should further heighten the degree of suspicion of an organic etiology.4 Diagnostic testing should be ordered on patients presenting with such neuropsychiatric symptoms including CSF analysis, MRI, EEG, and laboratory studies. MRI findings in limbic encephalitis are varied and in a majority of patients, no abnormalities are detected. EEG may show sharp epileptiform activity, and CSF analysis is helpful in determining underlying viral pathophysiology.3 Further work-up to rule out auto-immune (anti-NMDAR, anti-VGKC, anti-Hu antibodies) or a paraneoplastic cause (ovarian teratoma, small cell lung cancer, breast cancer) should also be conducted.4University of Miami Department of Psychiatry, Miami, Fla., and Kasturba Medical College, Mangalore, IndiaReferences1 Kayser MS, Kohler CG, Dalmau J: Psychiatric manifestations of paraneoplastic disorders. Am J Psychiatry 2010; 167:1039–1050Crossref, Medline, Google Scholar2 Schott JM: Limbic Encephalitis: a clinician’s guide. Pract Neurol 2006; 6:143–153Crossref, Google Scholar3 Braakman HMH, Moers VMP, Arts BMG, et al.: Pearls & Oysters: Electroconvulsive therapy in anti-NMDA receptor encephalitis. Neurology 2010; 75:44–46Crossref, Medline, Google Scholar4 Day GS, High SM, Cot B, et al.: Anti-NMDA-receptor encephalitis: case report and literature review of an under-recognized condition. J Gen Intern Med 2011; 26:811–816 published online February 12 2011.Crossref, Medline, Google Scholar FiguresReferencesCited byDetailsCited byChild and Adolescent Psychiatric Clinics of North America, Vol. 22, No. 4General Hospital Psychiatry, Vol. 35, No. 6 Volume 24Issue 2 Spring 2012Pages E25-E25 Metrics PDF download History Published online 1 April 2012 Published in print 1 April 2012

Sistemik Lupus Eritematozusta Aktif Nefritle Birlikte İlk Bulgu Olarak Pulmoner Hemoraji

Pulmonary hemorrhage is the most devastating pulmonary complication of systemic lupus erythematosus. It has rarely been reported to occur as the initial presentation in lupus patients. We report a 50-year-old male who presented with pulmonary hemorrhage and nephritis as the initial manifestation of systemic lupus erythematosus. He presented with dyspnea, hemoptysis and pretibial edema. He responded to early intravenous pulse methylprednisolone therapy and cyclophosphamide therapy, but his pulmonary hemorrhage relapsed 20 days later. He was given intravenous methylprednisolone, intravenous cyclophosphamide and 5 sessions of plasmapheresis, resulting in temporal stabilization of his condition. Pulmonary hemorrhage in this connective tissue disease is an uncommon but serious complication with high mortality rates in spite of intensive treatment.

Gene Mutations in Paired Initial Presentation and Relapse Samples From Acute Myeloid Leukemia Patients,

Abstract 3592 Introductions:Gene mutationswere found in acute myeloid leukemia (AML) and their importance has been noted. Flt3, NPM1 and CEBPA were detected in “intermediate cytogenetic risk” group, and are becoming possible to distinguish subsets of patients with different outcomes. Moreover, several groups have reported that these mutations would be useful for not only predictive markers, but also minimal residual disease (MRD) markers in AML. Several recent studiesprovided compelling evidence that mutations in epigenetics modifying genes contribute to AML pathogenesis. DNMT3a mutations were common (about 20% frequency) in de novo AML and associated with poor prognosis. Furthermore, mutations of IDH1/2 and TET2 that also seem to be collaborating on DNA methylation modifying are detected, too.To clarify the importance and dynamics of these mutations in clinical course, we examined Flt3, NPM1, CEBPA, DNMT3a and IDH1/2 gene mutations in paired samples at initial presentation and relapse of AML patients. Materials and Methods:We analyzed the samples from adultpatients with de novo AML diagnosed at Nippon Medical School Hospital from 2000 to 2010. Mutation analyses were performed for Flt3 ITD by PCR amplification, Flt3 TKD by PCR-RFLP, and NPM1, CEBPA, IDH1/2 and DNMT3a mutations by direct sequence. Results:The 31 AML patients were enrolled. In chromosomal analysis at initial presentation, 19 with normal karyotype (NK-) AML, 2 with trisomy8, 4 with 11q23 associated, 1 with monosomy7, 2 with complex karyotypes and 3 with non-specific aberrations were observed. 15 cases were comparable for paired samples at diagnosis and relapse. 13 of them (86.7%) showed additional chromosomal aberrations at relapse.Gene mutations were detected more frequently in cytogenetic intermediate risk group (83.3%) than poor risk group (0%). There were 11 patients with Flt3 ITD at initial presentation, but 3 of them had no detectable mutation at relapse. Flt3 TKD were found in 3 patients at initial presentation, but all of them were lost at relapse. Among 12 patients with NPM1 mutation at initial presentation, 3 of them lost their mutation at relapse. CEBPA mutation was detected in only one paired sample at diagnosis and relapse. DNMT3a mutations were detected in 8 patients both at initial presentation and relapse. IDH2 mutations were detected in two patients at initial presentation, but 1 of them was lost at relapse. In summary, of the 37 gene mutations at initial presentation, 10 gene mutations were lost at relapse, and only 1 acquired gene mutation was detected at relapse. Flt3 ITD, NPM1, DNMT3a and IDH2 mutations frequently coexisted with another mutation. Discussion:This study is the first report of consecutive analyses on the major gene mutations in AML. Newly acquired gene mutations at relapse are rare compared to frequent additional chromosomal aberrations at relapse.Flt3 ITD mutations at initial presentation were detected also at relapse. This finding indicates that Flt3 ITD are responsible for relapse and refractoriness. On the other hand, all 3 cases with Flt3 TKD lost the mutation at relapse, suggesting that Flt3 TKD mutation does not contribute to their relapse.Some of Flt3 ITD, Flt3 TKD and NPM1 mutations could not be detected at relapse, indicating that these mutations should be used carefully for MRD marker. DNMT3a mutations were detected both at diagnosis and relapse in all 8 cases. This finding suggests that DNMT3a mutations might be a useful MRD marker. Disclosures:No relevant conflicts of interest to declare.

Assessing Fear-Avoidance Beliefs in Patients With Whiplash-associated Disorders

To examine the development of fear avoidance behaviours following whiplash injury using two different measures of fear avoidance, the Pictorial Fear of Activities Scale-Cervical (PFActS-C), and the Tampa Scale of Kinesiophobia (TSK-17). Secondarily we assessed the capacity of these measures to predict recovery status at long term follow up and initial cervical range of movement (ROM). Ninety-eight patients with acute WAD were recruited and completed measures of pain and disability (NDI), fear avoidance beliefs and cervical ROM at baseline (<4 weeks), 3 and 6 months post injury. Participants were grouped based on NDI scores at 6 months follow up as either recovered (NDI <10), mild (NDI 10-28) or moderate/severe (NDI ≤ 30). Repeated measures, linear mixed model analysis showed a significant main effect for time and group for both TSK-17 and PFActS-C scores (P ≤ 0.001). On both measures the moderate/severe group scored significantly higher than the mild and recovered groups. TSK-17 scores, age and initial pain intensity at baseline significantly predicted NDI scores at 6 months (P = 0.002). PFActS-C scores, age and initial pain intensity at baseline significantly predicted initial cervical extension and rotation ROM (P = 0.001). Fear avoidance beliefs and behaviours develop quickly following whiplash injury and influence both the initial physical presentation and long term outcome of patients with WAD. The PFActS-C may provide a measure of fear of movement which is more specific to the cervical spine in patients with WAD in comparison to the TSK-17.

National Trends in the Incidence and Stage of Disease at Initial Presentation for Patients With Pancreatic Adenocarcinoma

National Trends in the Incidence and Stage of Disease at Initial Presentation for Patients With Pancreatic Adenocarcinoma

Serum procalcitonin as a diagnostic marker for neonatal sepsis: a systematic review and meta-analysis

To assess the value of serum procalcitonin (PCT) for the differentiation between patients with and without neonatal sepsis. We systematically searched PubMed, Scopus, and the Cochrane Library for studies evaluating PCT in neonatal sepsis. PCT had to be measured in neonatal blood samples, at the initial presentation of patients with suspected sepsis, before the administration of antibiotics. We performed a bivariate meta-analysis of sensitivity and specificity, and constructed a hierarchical summary receiver-operating characteristic (HSROC) curve. Overall, 29 studies eligible for inclusion were identified. We analyzed the 16 studies (involving 1,959 neonates) that evaluated PCT in neonates with culture-proven or clinically diagnosed sepsis in comparison with ill neonates with other conditions. The pooled (95% confidence interval) sensitivity and specificity were 81% (74-87%) and 79% (69-87%), respectively. The area under the HSROC curve (AUC) was 0.87. The diagnostic accuracy of PCT seemed higher for neonates with late-onset sepsis (>72h of life) than for those with early onset sepsis; the AUC for these analyses was 0.95 and 0.78, respectively. However, fewer data were available for late-onset sepsis. High statistical heterogeneity was observed for all analyses. Our findings suggest that serum PCT at presentation has very good diagnostic accuracy (AUC=0.87) for the diagnosis of neonatal sepsis. However, in view of the marked observed statistical heterogeneity, along with the lack of a uniform definition for neonatal sepsis, the interpretation of these findings should be done with appropriate caution.

IBD and related diagnostically difficult entities of the colon

This lecture (review) summarises current diagnostic problems and advances with regard to patterns of inflammation and dysplasia in inflammatory bowel disease (IBD), particularly ulcerative colitis and Crohn’s disease. In a small percentage of cases, a definite diagnosis of ulcerative colitis or Crohn’s disease cannot be established in which the term ‘indeterminate colitis’ has been used. Most cases of indeterminate colitis are related to fulminant colitis, a condition in which the classic features of ulcerative colitis or Crohn’s disease may be obscured by severe ulceration with early fissuring ulceration, transmural inflammation, and relative rectal sparing. Several studies suggest that ileal/anal pouch anastomosis procedure is safe and effective in patients with indeterminate (fulminant) colitis. In biopsy studies, there are a number of exceptions to the classic principles in IBD pathology that may lead to diagnostic confusion and simulate Crohn’s-like tissue reactions in patients with ulcerative colitis. For instance, skip lesions may occur in patients with ulcerative colitis in the follow settings: long-term oral or topical therapy, and on initial presentation in paediatric patients. Patients with IBD are at increased risk for the development of dysplasia and carcinoma. Dysplasia in IBD is classified as flat or elevated, and then microscopically as negative, indefinite, low or high grade. In addition to the conventional (intestinal) type of dysplasia, other less common and more diagnostically difficult types of dysplasia, such as serrated dysplasia and mucinous hypervillous epithelium, may occur in some patients with IBD. There is recent evidence to suggest that patients with flat low grade dysplasia should also be considered strongly for colectomy. Elevated lesions in IBD (DALM) are subdivided into adenoma-like and non-adenoma-like based on their endoscopic appearance. Regardless of the grade of dysplasia, adenoma-like lesions may be treated adequately by polypectomy if there are no other areas of flat dysplasia in the patient. The surveillance and treatment options for patients with flat and elevated dysplasia in IBD will be reviewed in detail.

Gastric cryptococcal infection as an initial presentation of AIDS: a rare case report

Cryptococcus neoformans has been recognized as a human pathogen over centuries. This has achieved new prominence in the recent years as it is an opportunistic fungi causing fatal, deep mycotic infections in immunocompromised states. Although cryptococcus is principally a pathogen of central nervous system, wide variety of other organs may also be involved. Gastrointestinal cryptococcosis is rarely reported either as an isolated finding or in a disseminated disease. However, even with the strikingly increased incidence of the disease, occurrence of obvious gastrointestinal symptoms directly attributable to cryptococcosis is outstandingly rare. We report a case of gastric cryptococcal infection with esophageal herpes as an initial presentation in an AIDS patient.

P59 Hypokalemic paralysis as initial presentation in female patients with primary Sjogren's syndrome—a case series

Seven (Nod+Fix−) mutants of pea cv. Frisson were isolated following ethylmethane sulphonate mutagenesis. Histological, fluorescence and molecular approaches have been used to characterized symbiotic phenotypes and to classify the mutants. In all cases, Rhizobium infection occurred via root hairs and resulting nodules had a typical indeterminate structure. However, mutants could be broadly classified into two group on the basis of nodule development and the level of nodule-specific gene transcripts. In the first groups, comprising P12, P58, P61 and P63 lines, nodule development was approximately normal but was followed by premature senescence. In the second group comprising P59, P60 and P62, mutant lines showed an early arrest of nodule development. Developmentally-defective root hairs were also observed on roots of mutant P62.

Si fiebre, ¿hemocultivos?

Blood cultures are the main diagnostic tool for bacteremia. Bacteremia is a frequent medical problem and it is associated to a significant mobility and mortality. There is a great deal of information about this topic. Nevertheless, guidelines that focus this problem in the emergency department are scarce. It is common practice to obtain blood cultures during the initial presentation of patients who may harbor an infection. Despite the frequency of this practice, there is sparse evidence relating to when it is appropriate to order a blood culture. There are several studies that identify independent predictors of bacteremia, to derive and validate a clinical decision rule to assess risk of bacteremia, and to identify a low-risk population of patients for whom blood cultures may be safely eliminated. The ability to accurately assess a patient's risk for bacteremia and selectively order blood cultures would be clinically useful.

P28-11 Brachial plexopathy as the initial presentation in patient with hereditary neuropathy with liability to pressure palsies (HNPP)

P28-11 Brachial plexopathy as the initial presentation in patient with hereditary neuropathy with liability to pressure palsies (HNPP)

Misdiagnosis of Niemann‐Pick disease type C as Gaucher disease

Niemann-Pick disease type C (NPC) is a model for inborn errors of metabolism whose gene product mediates molecular trafficking rather than catabolizing macromolecules, as in classic lipidoses. We report the case of an infant who presented with hepatosplenomegaly without neurological abnormalities. Decreased activity of acid β-glucosidase and elevated serum chitotriosidase and tartrate-resistant acid phosphatase on repeated measurements led to initial diagnosis of Gaucher disease (GD). Failure to respond to enzyme replacement therapy after one year, however, put the diagnosis in question. Cholesterol esterification assays in cultured skin fibroblasts and NPC gene analysis led to the correct diagnosis of NPC. The patient had markedly reduced cholesterol esterification and was a compound heterozygote for a known and a novel mutation in the NPC gene (395delC and 2068insTCCC), which are both predicted to lead to protein truncation. Although the full phenotype of NPC involves hepatosplenomegaly and neurodegenerative disease, the initial presentation in a pediatric patient may be restricted to visceral disease. Of interest, this patient had decreased activity of leukocyte acid β-glucosidase activity and elevated serum chitotriosidase to levels often seen in GD. Although acid β-glucosidase activity in leukocytes was low, it was in the normal range in skin fibroblasts. Therefore, diagnostic delay may occur in NPC due to false positive testing for GD. Diagnosis of NPC requires a high index of suspicion and should be considered in a patient with hepatosplenomegaly even in the absence of neurodevelopmental signs. Prompt diagnosis will become increasingly important as effective therapies are developed for NPC.

Is Gender Related to the Stage of Colorectal Cancer at Initial Presentation in Young Patients?

The incidence of colorectal cancer (CRC) in young adults is rising, and young age is a predictor of poor survival. The purpose of this study was to examine factors leading to increased mortality in patients ≤ 50 years of age, and to examine this population for characteristics that could lead to benefit from CRC screening. Charts of patients 50 years of age and under, diagnosed with CRC from 1998 through 2007, at our community teaching hospital, were reviewed retrospectively. Demographics, social and family history, staging, treatment and death were evaluated. Mann Whitney, Fisher Exact, and χ(2) tests were used with P <0.05 considered statistically significant. Forty-five young patients with CRC were identified. Twenty-five patients were female and 20 male; the mean age was 43.6 y. Most patients presented with rectal bleeding. Right-sided cancers had a higher presenting stage (P < 0.05). Men had both a higher presenting stage (P = 0.35) and a higher incidence of smoking compared with women (P = 0.001). Female patients were more likely to have left-sided CRC (65%) compared with men (35%). Ninety-six percent of patients underwent surgical resection; 14 patients died. CRC in young adults is not common, but is often advanced when discovered. Diagnostic efforts should be aggressive in young patients who have rectal bleeding, especially young male smokers. Sigmoidoscopy is not adequate for comprehensive diagnosis of CRC in young patients, as the majority have right-sided colon cancers, which often result in subsequent presentation of the disease at a higher stage, risk, and mortality rate.

Predictive Utility of Type and Duration of Symptoms at Initial Presentation in Patients with Mild Cognitive Impairment

Background/Aims: To assess (1) the duration and symptoms present in participants with mild cognitive impairment (MCI) and (2) the impact of these variables on predicting conversion to Alzheimer’s disease (AD). Methods: Participants with MCI (n = 148) were assessed and followed systematically. Results: Decline in memory was reported as the first symptom in 118 of the cases. Converters had more symptoms (e.g. language decline, depression), and the combination of decline in memory and in performance of high-order social/cognitive activities as well as disorientation more often than nonconverters (p = 0.036). In an age-stratified Cox model, predictors of conversion to AD were shorter time since onset of memory decline and lower baseline MMSE score. Conclusions: Recent onset of memory decline with older age, decreased MMSE score, change in performance and disorientation indicate a greater likelihood of short-term conversion to AD.