bluuebunny/crossref_metadata_2025_split huggingface dataset:
Verification of Access GI Monitor (CA 19-9) Assay on Beckman Coulter Unicel DXI 800
Authors: Ollila Eric , Cao Liyun , Wei Qing , Youssef Mariam 
Published: September 2019

Abstract
CA 19-9 antigen has been identified in patients with colorectal, pancreatic, bile duct, hepatocellular, stomach, and esophageal cancers. Noncancerous conditions that may elevate CA 19-9 levels include cirrhosis, cholangitis, hepatitis, pancreatitis, and nonmalignant gastrointestinal diseases. CA 19-9 antigen levels may be used as an aid in monitoring response to therapy or disease progression in cancer patients. The objective of this study was to assess the analytical performance of the Access GI Monitor assay on Beckman Coulter UniCel DXI 800. CA 19-9 was quantitatively determined on the Beckman Coulter UniCel DXI 800 following CLSI guidelines. The performance was evaluated for linearity, sensitivity, reference range, and precision. The within-run and between-run precisions were assessed by analyzing QC material at low and high levels of concentrations. Accuracy was assessed by comparison with the previously established Siemens ADVIA Centaur XP. Antigen level values were classified as positive or negative based on the upper limit of the reference range to assess concordance between the two analyzers. The accuracy of each analyzer was also assessed by correlating the discordant antigen values with the patients’ clinical history. For the Beckman Coulter DXI assay, the analytic measurement range was determined to be linear between 0.8 and 2,000 U/mL with a slope of 1.018 and intercept of 4.13. The limit of blank was determined as 0.09 U/mL. The reference range was verified as 0 to 35 U/mL. The within-run CVs for CA 19-9 were 3.7% at both the low level of 23.54 U/mL and high level of 262.56 U/mL. The between-run CVs at low and high levels were 4.34% and 6.36%, respectively. A total of 327 patient samples were analyzed in the comparison of CA 19-9 levels on Beckman Coulter DXI and Siemens ADVIA Centaur XP. On Deming regression, the slope was 0.665 with an intercept of 136.4 and correlation coefficient of 0.8964; there was wide scatter between the two methods. The mean bias between the two analyzers was –291.1 (–22.8%). The correlation coefficient was 0.8931, and the bias was –770.7 (–26.1%) when both were positive. The correlation coefficient was 0.7949, and the bias was –0.8 (–6.1%) when both were negative. The agreement of the two methods was 91% (n = 298) and disagreement was 9% (n = 29). After clinical analysis of 18 discordant values, six data points correlated better with the Siemens Centaur XP and the remaining 12 correlated better with the Beckman Coulter DXI. Our data demonstrate that CA 19-9 on Beckman Coulter DXI has good linearity and precision. There is poor to fair correlation between the two methods. Agreement based on clinical classification of positive and negative results is good. The Beckman Coulter DXI correlates with the patient clinical history better than the Siemens Centaur XP when comparing discordant values between the analyzers.
Exome Sequencing Identifies Glycosylation Defects as a Probable Cause of Immune-Mediated Thrombotic Thrombocytopenic Purpura
Authors: Basu Malay Kumar , Staley Elizabeth , Halkidis Konstantine , Sui Jingrui (Jean) , Kocher Nicole K , Gong Han , Williams Lawrence A , Marques Marisa B , Cao Wenjing , Zheng X Long 
Published: September 2019

Abstract

Background
Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a potentially fatal syndrome, resulting from autoantibodies against ADAMTS13. However, the mechanism underlying autoantibody formation is not known. Neither is known about the other genetic abnormality in the setting of severe deficiency of plasma ADAMTS13 activity.

Methods
Whole-exome sequencing (WES) was performed in 40 patients with iTTP who had plasma ADAMTS13 activity <10% and a positive inhibitor or elevated anti-ADAMTS13 IgG. Fifteen age- and ethnicity-matched subjects who never had iTTP were recruited as healthy controls.

Results
WES identified mutations in the genes involved in glycosylation, including O-linked glycosylation to be the major pathway affected in patients with iTTP. Mass spectrometry confirmed the changes in plasma levels of various glycoproteins in patients with acute iTTP when compared with those in the healthy controls. The altered glycosylation in glycoproteins may be responsible for the development of autoantibodies, susceptibility of von Willebrand factor to proteolysis by ADAMTS13, and the clearance of platelets in iTTP patients. Moreover, candidate gene analysis revealed that various genes involving in hemostasis, complement activation, platelet number and function, and inflammation were all affected in patients with iTTP, which may contribute to the onset, progress, severity, and long-term outcome of iTTP.

Conclusions
Our findings provide novel insight into a pathogenic mechanism underlying autoantibody production and the potential contribution of other genetic abnormalities in pathogenesis of iTTP in the individuals with severe deficiency of plasma ADAMTS13 activity.

Future Direction
Further studies are warranted to determine the specific glycosylation patterns of various plasma and cellular proteins in patients with iTTP and to determine the synergistic role of various gene mutations and severe ADAMTS13 deficiency in the pathogenesis of iTTP.
Adopting an Evidence-Based Approach for Folate Testing in a Tertiary Care Center
Authors: Rais Rehan , Szymanski Jeffrey , Jackups Ronald 
Published: September 2019

Abstract
Plasma folate is a very commonly ordered test, despite evidence that folate deficiency is extremely rare following universal fortification of grains mandated in the United States in 1998. The objective of our study was to adopt an evidence-based approach for plasma folate testing and identify in what clinical and hospital settings folate may be an informative test. We performed a retrospective laboratory information system/patient chart review between 10/31/17 and 10/31/18 and identified folate-deficient patients. Folate testing data were collected over a 1-year period from a tertiary care hospital and associated allied centers. Data included total tests ordered, age and gender of patient, location of where testing was performed, plasma folate, vitamin B12, hemoglobin, and mean corpuscular volume (MCV). In addition, we looked at association in folate-deficient patients with history of alcohol use, immigrant status, gastric surgery, birth defects, and if any presented with neurological symptoms. Associated patient comorbidities and therapeutic interventions to treat folate deficiency were also noted. Our results show that 14,542 total tests were ordered during this time period, from which 408 patients (2%) had folate below the reference range of 5 ng/mL, with only 92 (0.6%) patients having results below 3 ng/mL (true folate deficiency). Five ICU patients were folate deficient, none of whom was below 3 ng/mL. The average age of folate-deficient patients was 58.3 (age range: 7-97), with a female predominance of 251 patients (61.5%). Hemoglobin results showed only 21 (5%) patients with values less than 7 g/dL, with 231 (56%) patients showing normal and 142 (34.8%) patients showing elevated MCV values (mean MCV: 93.1 fL, SD: 10.2). No clinically relevant association between concurrent folate deficiency and comorbid conditions was identified. Concurrent vitamin B12 testing performed in these patients showed normal levels in 299 (73.2%), while 27 (6%) and 70 (17%) patients showed B12 deficiency and elevation, respectively. Interestingly, only 176 (43%) of patients subsequently received folate supplementation. Our study highlights that folate testing following mandatory grain fortification is almost nonexistent. In addition, the vast majority of folate tests ordered provided no additional clinical information, particularly in the inpatient setting. In addition, our data suggest that elevated MCV values should not be used as a marker to suspect a diagnosis of folate deficiency. Folate testing should therefore be reserved for severely anemic patients without a clear etiology for anemia; however, even in this patient population, supplementation rather than testing may be a more effective option.
Esthesioneuroblastoma With Probable Paraneoplastic Hypertension: A Case Report
Authors: Haque Monira , Marbut Stephen 
Published: September 2019

Abstract

Objectives
Esthesioneuroblastoma or olfactory neuroblastoma (ONB) is a rare malignant neuroectodermal tumor accounting for 2% of all intranasal tumors with a reported incidence of 0.4 per million. We report an interesting case of ONB associated with hypertension, suspicious for paraneoplastic syndrome.

Methods
A 41-year-old male with clinical symptoms of chronic sinusitis presented with gradually worsening unilateral nasal obstruction. Computerized tomography demonstrated a 2.1-cm expansile mass in left ethmoid sinus. Examination revealed a swollen, erythematous middle turbinate. A left ethmoidectomy was performed.

Results
Histologic examination of the specimen revealed lobular nests of monomorphic small cells with round nuclei, salt and pepper chromatin, and indistinct cytoplasm embedded in a fibrillary stroma with abundant neuropil. Mitosis, necrosis, and nuclear pleomorphism were absent. Immunohistochemically, the neoplastic cells were positive for synaptophysin, chromogranin, CD56, and neuron-specific enolase and negative for pancytokeratin AE1/AE3, CAM 5.2, and CD45. S-100 focally highlighted the sustentacular cells. A diagnosis of ONB, Hyams grade 1 was made. Of note, the patient had a history of hypertension and the original surgery had been cancelled due to hypertensive urgency. With the suspicion of a paraneoplastic hypertension, his catecholamines were ordered; however, he failed to follow up for his scheduled testing. Five weeks postoperative, he was seen in the emergency department and found to be normotensive without antihypertensive medication. The clinical findings are strongly suggestive of paraneoplastic hypertension associated with ONB.

Conclusion
ONB is a rare tumor associated with a high recurrence rate due to its anatomical location. Survival rates are best with surgical resection followed by radiotherapy. ONB may rarely be associated with paraneoplastic syndromes. Review of available literature reveals only five reported cases of ONB with paraneoplastic hypertension. The rarity of this tumor and the clinical presentation highly suspicious for paraneoplastic hypertension make this case uniquely interesting.
A Rare Case of Desmoplastic Mesothelioma With Good Survival Despite Lymph Node Metastasis
Authors: Basu Atreyee , Pass Harvey , Zhou Fang , Narula Navneet , Moreira Andre 
Published: September 2019

Abstract

Introduction
Desmoplastic mesothelioma (DMM), a rare histological subtype of malignant pleural mesothelioma (MPM), is lethal and has very poor prognosis. Metastasis is commonly reported in DMM compared to other histological subtypes. Here we report a case of DMM with good survival (>1 year) despite lymph node metastasis.

Case Report
A 62-year-old female with a history of smoking and possible asbestos exposure presented with cough and wheeze in 2012. Computed tomography (CT) revealed left-sided pleural plaques and multiple ground-glass pulmonary nodules. In 2017, repeat CT showed increased diffuse left nodular pleural thickening. Positron emission tomography revealed hypermetabolic, nodular pleural thickening in the hemithorax, compatible with neoplasia. Needle biopsy in January 2018 showed pleural tissue with haphazard, nodular growth of spindled mesothelial cells, suspicious for desmoplastic mesothelioma. Definitive diagnosis was not possible due to lack of fat invasion and absence of supportive evidence by immunohistochemical stains. The patient underwent pleurectomy in February 2018. On histopathology, the majority of the tumor showed a desmoplastic pattern, composed of malignant spindled cells arranged haphazardly in a dense hyalinized stroma with chronic inflammatory infiltrate. AE1/AE3, calretinin, and D2-40 immunohistochemical stains highlighted the infiltrating neoplastic cells, which were negative for WT-1. BAP-1 was retained. The pattern of immunoreactivity supported the diagnosis of DMM. The tumor also involved visceral pleura, pulmonary parenchyma, and pericardium. It invaded into fat and displayed lymphovascular invasion. A metastatic focus of DMM was present in a lymph node. The tumor was staged as pT3N1. On recent examination, the patient only had complaints of mild breathlessness and stable hydro-pneumothorax, without any other comorbidities.

Conclusion
Our finding is unusual, since among the mesothelioma subtypes, DMM has the shortest survival, usually not more than 6 months. We report an extremely rare case of DMM with survival of >1 year despite invasion of lung parenchyma and lymph node metastasis.
Endometriosis in an Indigenous African Women Population
Authors: Ohayi Samuel 
Published: September 2019

Abstract

Introduction
Endometriosis is a condition in which endometrial tissue exists outside the endometrial cavity. It has a high prevalence in women living in developed countries and is reportedly the third most common cause of gynecologic hospitalization in the United States. It is believed to be rare among indigenous African women, although studies on its prevalence in this population are few. This study aims to determine the prevalence and clinical presentation of the condition in an indigenous African population.

Methods
This is a retrospective study of gynecological specimens received in the Histopathology Laboratory of Enugu State University Teaching Hospital from January 1, 2014, to December 31, 2018. Laboratory request forms and histopathology reports archived in the laboratory were retrieved and relevant information about patients diagnosed with endometriosis was extracted and analyzed by simple statistical methods.

Results
There were 25 diagnosed cases of endometriosis representing 0.9% of gynecological specimens received in the period. Patients’ average age was 38.4 ± 8.4 years while the peak age range was 31 to 40 years (n = 10; 40%). Myometrium was the most common site (n = 16; 64%), followed by the ovary (n = 5; 20%). The umbilicus, round ligament, broad ligament, and suprapubic region constituted 1 (4%), respectively. The most common symptoms were pelvic pain (36%) and abnormal uterine bleeding (32%) while recurrent ascites occurred in 1 (4%). There was associated primary and secondary infertility in 20% and 16% of cases, respectively. Recurrent abortion occurred in 4 (8%) of cases. The umbilical and suprapubic masses had symptoms, bleeding, and tender swelling, respectively, that synchronized with the patient’s menstrual cycle.

Conclusion
Endometriosis has a low prevalence in our population but occurs in rare sites. Women presenting with chronic pelvic pain and infertility and menstrual disorders should be evaluated for endometriosis. Population-based study is required to properly determine the actual prevalence of the condition in this population.
Hemorrhagic Necrotizing Pneumonia Caused by Trichosporon asahii Suspected by Distinctive Histology in Tissue
Authors: Afsari Ali , Zhou Jiemin , Hassan Muhammad , Naab Tammey 
Published: September 2019

Abstract
Trichosporon spp. are yeast-like organisms most often responsible for superficial skin infections (white piedra) and may transiently colonize the respiratory tract. Trichosporon asahii can be an opportunistic pathogen, causing invasive disease and sometimes disseminated infections, usually in immunocompromised patients. They are the third most commonly isolated yeast species in clinical settings. They cause hemorrhagic and necrotizing bronchopneumonia due to vascular invasion; mycotic emboli are identified within hemorrhagic infarcts. Distinctive pleomorphic budding yeasts, true hyphae, and arthroconidia stain weakly with silver stain in tissue. A 53-year-old HIV-negative male with PMH of schizophrenia and intravenous drug abuse presented with shortness of breath and chest pain. Patient was admitted to the MICU for acute respiratory distress likely secondary to pneumonia. Chest CT scan revealed multiple ill-defined opacities in the lung periphery. The patient had neutrophilic leukocytosis and positive blood culture for methicillin-resistant Staphylococcus aureus and Candida glabrata. Broad-spectrum antibiotics and antifungal drugs (fluconazole, voriconazole, amphotericin B, micafungin) were started. Two weeks later, wedge lung biopsy revealed necrotizing pneumonia with abscess formation and pleomorphic budding yeast-like cells, measuring 3 to 6 microns in diameter; septated hyphae; and arthroconidia. Culture of a bronchial washing was confirmed to be T asahii by matrix-assisted laser desorption/ionization time of flight (MALDI-TOF). Unfortunately, the patient died and partial autopsy of his lungs showed the same pathogen. Invasive respiratory infections caused by T asahii have increased in frequency over the last two decades. Distinctive histology in tissue (pleomorphic yeasts, septated hyphae, and arthroconidia) can suggest the diagnosis, confirmed with MALDI-TOF. Risk factors for invasion include prior antibiotic therapy, central catheterization, malignancy (often hematologic), and intensive care unit admission. Thirty-day all-cause mortality has been reported to be 42% and has been linked to resistance to amphotericin B and echinocandins.
Rad-Path Correlate: Concordance and Discordance Rates in Danbury Hospital Patient Population
Authors: Olayinka Oluwaseyi , Kaur Gagandeep , Rebelo Ana , Chacho Mary , Vidhun Ramapriya 
Published: September 2019

Abstract

Objectives
Imaging-guided needle biopsy is a reliable alternative to surgical biopsy in the diagnosis of breast pathologies. However, false-positive results are common. Rad-Path correlation is crucial in identifying such results, thus allowing appropriate diagnosis and follow-up. We report our experience of Rad-Path correlation results in a community teaching hospital.

Methods
The tumor board data at Danbury Hospital were searched for Rad-Path conferences held from 2013 to 2018. Benign breast biopsies obtained from SNOMED, a monthly pathology list of imaging-guided needle biopsies performed at Danbury Hospital, were presented at these conferences. Data from the list were used for this research. Fibroadenoma cases were excluded in the analysis. The total number of cases presented and proportion of concordant and discordant cases were reviewed. Data on discordant cases were further reviewed to determine the reasons for discordance and follow-up outcomes.

Results
In the last 6 years, 64 Rad-Path meetings were held. A total of 393 benign breast biopsies were presented. Of the 393 cases, 24 (6.1%) were discordant. The radiologic findings for the discordant cases were as follows: mass/nodule, 15; calcifications, 7; linear nonmass enhancement, 1; and duct debris, 1. All the suspicious radiologic findings received a benign pathologic diagnosis. These discrepancies in Rad-Path findings were discussed in detail during the multidisciplinary tumor board. Out of 24 discordant cases, 5 (20.8%) were reviewed by the sign-out radiologist and their BI-RADS updated accordingly, another 5 (20.8%) cases had excisional biopsies, 9 (37.5%) cases were recommended for 6- or 12-month radiology follow-up, and the remaining 5 (20.8%) cases were lost to follow-up.

Conclusion
Rad-Path correlation is a key component of imaging-guided breast biopsy reporting. It facilitates detection of discordant radiologic and pathologic findings, and it prevents misdiagnosis and unnecessary repeat interventional procedures. This practice ultimately results in improved patient management.
Cancrum Oris(Noma): An Early Sign of Acute Lymphoblastic Leukemia Relapse
Authors: Madabhavi Irappa , Modi Mitul , Sarkar Malay , K S Sandeep , Shah Mansi , Mallikarjuna Vinay Sakaleshpura 
Published: September 2019

Abstract
Cancrum oris is an infectious disease, which involves the orofacial tissues and adjacent neighboring structures in its fulminant course. Cancrum oris can occur rarely in chemotherapy-induced neutropenic patients with acute lymphoblastic leukemia. This rare case report reveals that cancrum oris can be a sign of acute lymphoblastic leukemia relapse. It is characterized by gangrenous lesions on skin with fine-needle aspiration cytology smear from the lesion showing infiltration of lymphoblasts. Cancrum oris can occur rarely in chemotherapy-induced neutropenic patients with acute lymphoblastic leukemia, but the presentation as an early sign of extramedullary disease relapse has not been documented in literature. Here we report a case of cancrum oris in a 27-year-old woman who presented with redness and swelling of the upper lip and infranasal area. She had a known case of acute lymphoblastic leukemia diagnosed 6 months back and was on regular multiagent chemotherapy for the same. Clinical examination revealed gangrenous lesions on infranasal, intranasal, and area involving the upper lip. Complete blood count, bone marrow aspiration, and cytology did not show any lymphoblasts. Blood culture and swab culture from the gangrenous area were sterile. Patient did not get better even after 7 days of broad-spectrum antibiotic treatment. With a high degree of clinical suspicion of isolated extramedullary relapse, fine-needle aspiration cytology from marginal and gangrenous area was taken and revealed infiltration of soft tissues by lymphoblasts. After receiving four cycles of multiple chemotherapy drugs, the skin lesions resolved. Treatment of cancrum oris involves the correction of the underlying immune status, antibiotics, and surgical reconstruction. The rare possibility of relapse of acute lymphoblastic leukemia presenting as cancrum oris should be kept in mind in patients with acute lymphoblastic leukemia on chemotherapy with skin manifestations.
Metastatic Pulmonary Calcification With Coexisting Nonspecific Interstitial Pneumonia: A Case Report
Authors: Inamdar Arati , Pulinthanathu Rajiv 
Published: September 2019

Abstract
Patients with underlying chronic kidney disease (CKD) often have elevated serum calcium and parathyroid hormones due to compromised kidney function. We present a case of a 63-year-old female nonsmoker with surgical history of three renal transplants (at age 47, 51, and 58) along with thyroidectomy and parathyroidectomy who came to the emergency department with complaint of persistent dry cough and shortness of breath for the last 2 months. The patient had been on immunosuppressive drugs, tacrolimus, prednisolone, and mycophenolic acid since her first renal transplant as well as on cinacalcet after parathyroidectomy (at age 54). Initial computed tomography (CT) scan demonstrated ground-glass opacities in bilateral upper lobes while bronchoscopy revealed few inflammatory cells without any fungi or bacteria. Repeat CT scan performed 5 days later due to rapid progression of her clinical symptoms showed worsening of ground-glass opacities in bilateral upper lobes and new nodules in right middle and lower lung lobes. The wedge lung biopsy revealed metastatic pulmonary calcification (MPC) in the right upper lobe while nonspecific interstitial pneumonia (NISP) in the right lower lobe confirmed the coexistence of two different pathological processes most likely complicating the patient’s clinical symptoms. Despite comprehensive medical therapy, patient’s symptoms have been progressively worsening and she is currently undergoing evaluation for both renal and lung transplants. Our case report not only presents a rare case of MPC coexisting with NSIP but also sheds light on the associated morbidity due to pulmonary diseases in CKD patients.