The unique case of foot drop secondary to a large ovarian cyst.

PubMed

Ahmad, Maleeha; Kumar, Aditaya; Thomson, Simon

2014-08-01

We describe the unique case of a 58-year-old woman who presented with right leg radiculopathy caused by an ovarian cyst mimicking lumbar pathology. A review of the literature shows that this is a rare case where a histologically confirmed benign ovarian cystadenoma (of indeterminate type) is shown to cause foot drop and radiculopathy.

[Pap smear for mass screening: Results of an African experiment].

PubMed

Somé, O-R; Zongo, N; Ka, S; Wardini, R; Dem, A

2016-06-01

To assess the impact of smear test in the fight against cervix uteri cancer in Senegal. This was a descriptive cross-sectional study of 1836 Pap smears performed in patients over 15 years during several screening campaigns in Senegal conducted between June 2010 and June 2012. We analyzed epidemiological data, pathological smears, and the proposed management. In 69% of cases, the women were less than 45 years old. They were mostly multiparous and did not use contraceptive methods before. The smears were interpreted in 91.4% (n=1661) and were pathological in 5.2% of cases. They revealed mainly atypical squamous cells of undetermined significance, squamous intraepithelial low-grade lesions, and squamous intraepithelial high-grade lesions, respectively in 2.5% (n=46), 1.7% (n=30) and 1% (n=19) of cases. Multiparity, early marriages were the main risk factors. Patients with pathological smars had colposcopy with cryotherapy (23 cases), and colposcopy and biopsy (13 cases). A hysterectomy was performed in 4 cases. The pathological smear rate found in this study confirms the interest to continue cervical cancer screening with this practice. Strengthening of its geographical and financial access through a national prevention program will effectively help to lower cases of cervical cancer. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Does corticobasal degeneration exist? A clinicopathological re-evaluation.

PubMed

Ling, Helen; O'Sullivan, Sean S; Holton, Janice L; Revesz, Tamas; Massey, Luke A; Williams, David R; Paviour, Dominic C; Lees, Andrew J

2010-07-01

The pathological findings of corticobasal degeneration are associated with several distinct clinical syndromes, and the corticobasal syndrome has been linked with a number of diverse pathologies. We have reviewed all the archival cases in the Queen Square Brain Bank for Neurological Disorders over a 20-year period with either a clinical diagnosis of corticobasal syndrome or pathological diagnosis of corticobasal degeneration in an attempt to identify the main diagnostic pitfalls. Of 19 pathologically confirmed corticobasal degeneration cases, only five had been diagnosed correctly in life (sensitivity=26.3%) and four of these had received an alternative earlier diagnosis. All five of these had a unilateral presentation, clumsy useless limb, limb apraxia and myoclonus, four had cortical sensory impairment and focal limb dystonia and three had an alien limb. Eight cases of corticobasal degeneration had been clinically diagnosed as progressive supranuclear palsy, all of whom had vertical supranuclear palsy and seven had falls within the first 2 years. On the other hand, of 21 cases with a clinical diagnosis of corticobasal syndrome, only five had corticobasal degeneration pathology, giving a positive predictive value of 23.8%; six others had progressive supranuclear palsy pathology, five had Alzheimer's disease and the remaining five had other non-tau pathologies. Corticobasal degeneration can present very commonly with a clinical picture closely resembling classical progressive supranuclear palsy or Richardson's syndrome, and we propose the term corticobasal degeneration-Richardson's syndrome for this subgroup. Cases of corticobasal degeneration-Richardson's syndrome have delayed onset of vertical supranuclear gaze palsy (>3 years after onset of first symptom) and the infrequent occurrence of predominant downgaze abnormalities, both of which can be helpful pointers to their underlying corticobasal degeneration pathology. Fourty-two per cent of corticobasal degeneration cases presented clinically with a progressive supranuclear palsy phenotype and 29% of cases with corticobasal syndrome had underlying progressive supranuclear palsy pathology. In contrast, in the Queen Square Brain Bank archival collection, corticobasal syndrome is a rare clinical presentation of progressive supranuclear palsy occurring in only 6 of the 179 pathologically diagnosed progressive supranuclear palsy cases (3%). Despite these diagnostic difficulties we conclude that corticobasal degeneration is a discrete clinicopathological entity but with a broader clinical spectrum than was originally proposed.

[IDENTIFICATION OF CAUSES OF EARLY PREGNANCY LOSSES ACCORDING TO HYSTOMORPHOLOGIC FEATURES].

PubMed

Gotsiridze, K; Kintraia, N; Pailodze, M; Gogia, T; Tsaava, F

2017-01-01

Retrospective analysis of the early spontaneous abortions has been conducted (486 cases). Histomorphologic analysis of the curettage material contents erveledinvolutive-regressive developmental chsnges in 108 (22,28%) cases, in 370 cases (77.78%) pathologic changes, like inflammatory changes of deciduas and chorionic villis in 302 cases (80.2%), pathologic prematurity of chorionic vili in 48 cases (12.6%), hydatidiform mole in 28 cases (7.4%). As most cases of pregnancy loss has been reported at 7-9 weeks /172 cases/, we compared histomorphologic data revealed at 7-8 (71 cases) weeks to 5-6 (135 cases) and 10-12 weeks of gestation. Morphologic research data confimed, that at 7-8 weeks compared to 5-6 weeks leading reason ofpregnancy loss was inflammatory changes (OR-1,584), what can be cause of 110 pregnancy losses at 1000 pregnant women (AR-0.11). Data comparing7-9 weeks to 10-12 weeks pregnancy losses, confirm the priority of pathologic immaturity (OR-1,279) and hydatidiform mole (OR-1,557) and could be the risk of 100 cases of pregnancy termination at 1000 pregnant women (AR-0.10).Existing results are of great importance for the preconceptional preparation of women.

Case Report: SPECT/CT as the New Diagnostic Tool for Specific Wrist Pathology.

PubMed

Linde, Musters; Ten Broek, M; Kraan, G A

2017-01-01

Single photon emission computed tomography has been introduced as a promising new diagnostic tool in orthopaedic pathology since the early 90'. Computed tomography, the combined with SPECT, gives insight in the specific sight of wrist pathology. Literature already supports introduction of SPECT/CT in wrist pathology, but clinical application is lagging. A 40yr old patient reported first in 2004 with persisting pain after a right distal radius fracture. Several diagnostics and operative interventions were performed, all unsuccessful. Because of the persisting pain a SPECT-CT was performed which showed a cyst in the hamate bone, which was successfully enucleated. The patient was finally pain free at recent follow-up. With a QDash-score of 43 and a PRW (H) E-DLV-score of 58/150. In this case report, SPECT/CT proved a very sensitive diagnostic tool for specific pathology of the wrist. It offered precise localisation and thereby the clinically suspected diagnosis was confirmed and the patient successfully treated.

Renal manifestations in children with Alagille syndrome.

PubMed

Di Pinto, Diana; Adragna, Marta

2018-04-01

Alagille syndrome (AS) is a cholestatic disease secondary to scarcity of interlobular bile ducts. It is associated with extrahepatic manifestations, and renal involvement is frequent. To describe the prevalence, type and outcome of renal pathology in children with AS. The presence and outcome of renal pathology was retrospectively studied in 21 children who met AS criteria. Renal pathology was observed in 18 patients (85.7%): (1) ultrasound variations in 7 patients (6 cases of bilateral renal dysplasia and 1 case of renal agenesis); (2) distal renal tubular acidosis in 2 patients; (3) a drop in glomerular filtration and/or proteinuria in 16 patients. The frequency of a drop in glomerular filtration was similar between patients with and without pathological kidney ultrasound findings. Our study confirms a high prevalence of renal involvement, which enhances the importance of diagnosis and renal function follow-up in children with AS. Sociedad Argentina de Pediatría.

Retrospective imaging study on the diagnosis of pathological false positive iodine-131 scans in patients with thyroid cancer.

PubMed

Jia, Qiang; Meng, Zhaowei; Tan, Jian; Zhang, Guizhi; He, Yajing; Sun, Haoran; Yu, Chunshui; Li, Dong; Zheng, Wei; Wang, Renfei; Wang, Shen; Li, Xue; Zhang, Jianping; Hu, Tianpeng; Liu, N A; Upadhyaya, Arun

2015-11-01

Iodine-131 (I-131) therapy and post-therapy I-131 scanning are essential in the management of differentiated thyroid cancer (DTC). However, pathological false positive I-131 scans can lead to misdiagnosis and inappropriate I-131 treatment. This retrospective study aimed to investigate the best imaging modality for the diagnosis of pathological false positive I-131 scans in a DTC patient cohort, and to determine its incidence. DTC patient data archived from January 2008 to January 2010 was retrieved. Post-therapeutic I-131 scans were conducted and interpreted. The imaging modalities of magnetic resonance imaging (MRI), computed tomography and ultrasonography were applied and compared to check all suspected lesions. Biopsy or needle aspiration was conducted for patients who consented to the acquisition of histopathological confirmation. Data for 156 DTC patients were retrieved. Only 6 cases of pathological false-positives were found among these (incidence, 3.85%), which included 3 cases of thymic hyperplasia in the mediastinum, 1 case of pleomorphic adenoma in the parapharyngeal space and 1 case of thyroglossal duct cyst in the neck. MRI was demonstrated as the best imaging modality for diagnosis due to its superior soft tissue resolution. However, no imaging modality was able to identify the abdominal false positive-lesions observed in 2 cases, one of whom also had thymic hyperplasia. In conclusion, pathological false positive I-131 scans occurred with an incidence of 3.85%. MRI was the best imaging modality for diagnosing these pathological false-positives.

[Extrinsic compression of the hepatocholedocus caused by cavernomatosis of the portal vein. Report of a case].

PubMed

Carpani, M; Guma, C I; Casal, M A

1982-01-01

The extrinsic compression of the hepatocholedochus by a cavernomatosis of the portal vein, is an unusual pathology. The present case begun clinically as an obstructive jaundice, assuming that the vascular origin of the compression increased the litiasic biliary disease. The percutaneous transhepatic cholangiography was the diagnostic method that suggested a double illness of the biliary system. The surgery and the pathology certificated the diagnosis. The correct treatment once confirmed the obstructive trial, must be: the extraction of the biliary gallstones and the bile-digestive derivation (preferently the hepatic-jejunum anastomosis in Y of Roux).

[Analysis of misdiagnosis of tuberculosis otitis media and mastoiditis].

PubMed

Li, Zhiyong; Liu, Shixi; Zou, Jian; Huang, Shi

2013-11-01

To investigate the misdiagnosis cause of tuberculosis otitis media and mastoiditis. The clinical data of 9 cases with tubercular otitis media and mastoiditis were analyzed respect. Nine patients, only 1 patient in the preoperative tuberculosis in otitis media and mastoiditis, the remaining eight cases pre-operative misdiagnosed as chronic otitis media the pathologic diagnosis of tuberculous otitis media. The clinical features of tubercular otitis media and mastoiditis was similar easily confused with chronic suppurative otitis media. Clinicians should pay attention to the disease, history of tuberculosis, imaging studies, and pathology, and other special examination to confirm the diagnosis, reduce misdiagnosed.

Down-staging (

PubMed

Beukers, Willemien; Meijer, Titia; Vissers, Cornelis J; Boormans, Joost L; Zwarthoff, Ellen C; van Leenders, Geert J L H

2012-08-01

Urothelial cell carcinoma (UCC) with musculus detrusor (MD) invasion is treated by cystectomy. Subsequent pathologic evaluation of cystectomies does not reveal MD invasion (

Cutaneous remnants of the vitellointestinal duct: a clinico-pathological study of 19 cases

PubMed Central

Heatley, M K; Mirakhur, M

1988-01-01

The presence of cutaneous vitellointestinal duct remnants was confirmed histologically in 19 cases in the period 1970-1984. These lesions occurred mostly in males (16 males, 3 females), and 80% in children under the age of five years. One case was identified in an adult, suggesting that these lesions may in some cases cause little inconvenience, and that their true incidence is underestimated. PMID:3266043

Pathological diagnosis is maybe non-essential for special gastric cancer: case reports and review.

PubMed

Song, Wu; Chen, Chun-Yu; Xu, Jian-Bo; Ye, Jin-Ning; Wang, Liang; Chen, Chuang-Qi; Zhang, Xin-Hua; Cai, Shi-Rong; Zhan, Wen-Hua; He, Yu-Long

2013-06-28

Histopathological results are critical for the diagnosis and surgical decision regarding gastric cancer. However, opposite opinions from radiology and pathology can sometimes affect clinical decisions. The two cases reported in this article were both highly suspected as gastric cancer by clinical manifestations and radiologic findings, although both showed negative results in the first biopsy examination. One was confirmed as gastric cancer by the time of the 6(th) biopsy, while the other was still negative even after 8 biopsies. With a definite pathologic result and the agreement of the patient for the latter case, both of them finally received surgery. Postoperative pathological examination revealed findings that were the same as Borrmann type IV gastric cancer. We believed that duplicate biopsies under radiologic guidance were necessary for highly suspected gastric cancer cases in the absence of a definite pathology result, and patients should be under close follow-up. We propose that, if gastric cancer is highly suspected when typical radiology changes of widely diffuse gastric parietal lesions suffice to exclude lymphoma and other similar situations, and even in absence of a positive biopsy result, a diagnostic laparotomy under laparoscopy and even radical gastrectomy may be reasonably performed by an experienced gastric cancer center with the agreement of the patient after being decided by a multidisciplinary discussion team.

[Identification of human papilloma viruses (HPV) in inflammatory states and ear neoplasms].

PubMed

Rydzewski, Bogdan; Goździcka-Józefiak, Anna; Sokalski, Jerzy; Matusiak, Monika; Durzyński, Lukasz

2007-01-01

Human Papilloma Virus has a strong relation to oropharyngeal mucosa and is considered to be responsible for a wide range of upper respiratory tract pathologies, like laryngeal papilloma. There's a hypothesis, that it plays a significant role in middle ear chronic inflammations and neoplasm's. MATERIAL AND METHODIC. The examination was carried on a group of 53 patients, 39 of which was suffering from granulation tissue chronic otitis media, 7-cholesteatomatous otitis media, 6--middle ear malignant neoplasm, and 1 middle and/or external ear benign neoplasm. The control group consisted of 5 patients operated on: otosclerosis--4 cases and post-traumatic tympanic membrane perforation--1 case. The material was postoperative tissue, like polyps, inflammatory granulation tissue, cholesteatoma masses and malignant neoplasm's tissue. In the whole group of 53 examined cases, HPV DNA was confirmed in 22 cases (41.5%), in that group oncogenic types 16 or 18 in 12 cases (22.6%), and in 14 cases (26.4%) types 6 or 11. In a group of chronic granulomatous otitis media DNA characteristic for Papilloma was identified in 12 cases (25.6%), in it in 9 cases DNA HPV type 6 or 11 was confirmed, and in 7 cases type 16 or 18. Among cholesteatomatous chronic otitis media HPV DNA types 6 or 11 was identified in 70%. In every case of middle ear malignant neoplasm a presence of high-risk DNA Papilloma types 16 or 18 was confirmed. In any case of control group HPV DNA was detected. The results has been compared with other authors examinations and it is claimed that they confirm the observation, that Human Papilloma Viruses may be a factor, that might play an important role in pathology of chronic otitis media and ear neoplasm's. It is concluded, that differences in percentages of HPV presence in chronic inflammations (70%) and ear neoplasm's may be explained by viral co-infection during bacterial c. o. m. Viral infection probably evolves carcinogenesis, which leads to a neoplastic growth.

Lung cancer mimicking lung abscess formation on CT images.

PubMed

Taira, Naohiro; Kawabata, Tsutomu; Gabe, Atsushi; Ichi, Takaharu; Kushi, Kazuaki; Yohena, Tomofumi; Kawasaki, Hidenori; Yamashiro, Toshimitsu; Ishikawa, Kiyoshi

2014-01-01

Male, 64 FINAL DIAGNOSIS: Lung pleomorphic carcinoma Symptoms: Cough • fever - Clinical Procedure: - Specialty: Oncology. Unusual clinical course. The diagnosis of lung cancer is often made based on computed tomography (CT) image findings if it cannot be confirmed on pathological examinations, such as bronchoscopy. However, the CT image findings of cancerous lesions are similar to those of abscesses.We herein report a case of lung cancer that resembled a lung abscess on CT. We herein describe the case of 64-year-old male who was diagnosed with lung cancer using surgery. In this case, it was quite difficult to distinguish between the lung cancer and a lung abscess on CT images, and a lung abscess was initially suspected due to symptoms, such as fever and coughing, contrast-enhanced CT image findings showing a ring-enhancing mass in the right upper lobe and the patient's laboratory test results. However, a pathological diagnosis of lung cancer was confirmed according to the results of a rapid frozen section biopsy of the lesion. This case suggests that physicians should not suspect both a lung abscesses and malignancy in cases involving masses presenting as ring-enhancing lesions on contrast-enhanced CT.

EUS-FNA for suspected malignant biliary strictures after negative endoscopic transpapillary brush cytology and forceps biopsy.

PubMed

Ohshima, Yasuhiro; Yasuda, Ichiro; Kawakami, Hiroshi; Kuwatani, Masaki; Mukai, Tsuyoshi; Iwashita, Takuji; Doi, Shinpei; Nakashima, Masanori; Hirose, Yoshinobu; Asaka, Masahiro; Moriwaki, Hisataka

2011-07-01

Endoscopic transpapillary brush cytology and forceps biopsy are widely used for the pathological diagnosis of suspected malignant biliary strictures (MBS). However, the sensitivity of these methods remains insufficient, and it can be difficult to confirm the diagnosis. We aimed to evaluate the diagnostic ability of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) and the impact of this technique on clinical management in patients with suspected MBS where endoscopic brush cytology and biopsy yielded negative results. This study included 225 consecutive patients with suspected MBS, who underwent endoscopic brush cytology and biopsy at our institutions. Negative results were obtained for these pathological tests in 75 patients, and EUS-FNA was performed in 22 of these patients. We retrospectively compared the EUS-FNA results with the final diagnosis and examined the influence of the EUS-FNA diagnosis on treatment selection. FNA specimens were successfully obtained in all patients, and the pathological results confirmed malignancy in 16 cases and predicted that the other 6 cases were benign. Of the 6 cases that were suspected to be benign, 3 patients were diagnosed with xanthogranulomatous cholecystitis by surgical pathology, and the remaining 3 patients were diagnosed with benign diseases at a follow-up after 12-18 months. Thus, the EUS-FNA-based diagnosis was proven correct for all the patients. In addition, the treatment strategy was altered as a result of the EUS-FNA results in the above 6 patients (27%). EUS-FNA is a sensitive and safe diagnostic modality for patients with suspected MBS and can be an additional option in cases where endoscopic brush cytology and biopsy have produced negative results.

Pathology of Chronic Chagas Cardiomyopathy in the United States:  A Detailed Review of 13 Cardiectomy Cases.

PubMed

Kransdorf, Evan P; Fishbein, Mike C; Czer, Lawrence S C; Patel, Jignesh K; Velleca, Angela; Tazelaar, Henry D; Roy, R Raina; Steidley, D Eric; Kobashigawa, Jon A; Luthringer, Daniel J

2016-08-01

The pathologic features of chronic Chagas cardiomyopathy may not be widely appreciated in the United States. We sought to describe the gross, microscopic, immunohistochemical, and molecular pathology features useful to diagnose chronic Chagas cardiomyopathy. The features from a case series of cardiectomy specimens of patients undergoing heart transplantation (12 patients) or mechanical circulatory support device implantation (one patient) for chronic Chagas cardiomyopathy at three institutions in the United States are reported and analyzed. Gross findings included enlarged and dilated ventricles (100% of cases), mural thrombi (54%), epicardial plaques (42%), and left ventricular aneurysm (36%). Microscopic evaluation revealed myocarditis (100% of cases) characterized by mononuclear cell infiltration, fibrosis (100%), nonnecrotizing granulomas (62%), and giant cells (38%). Two specimens (15%) showed rare intracellular amastigotes. Immunohistochemical assays for Trypanosoma cruzi organisms were negative in all cardiectomy specimens, whereas tissue polymerase chain reaction was positive in six (54%) of 11 cases. The gross and microscopic features of chronic Chagas cardiomyopathy in the United States appear similar to those reported in endemic countries. Importantly, tissue polymerase chain reaction may be useful to confirm the diagnosis. © American Society for Clinical Pathology, 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Synchronous glioblastoma multiforme and chondrosarcoma: A case report and review of the literature.

PubMed

Li, Charles Xin; Goldenberg, Yoni; McLean, Catriona; Savio Gomes, Keith

2018-06-01

This case report describes the rare occurrence of two individually uncommon tumours found in synchronous manner in an otherwise healthy patient with no history of malignancy. We believe this to be the first reported case of synchronous glioblastoma and chondrosarcoma. While primary rib lesions metastasising to brain are rarely reported and primary brain lesions metastasising to rib are even rarer still, there were no previous reports in the literature of synchronous brain and rib dual primary pathology that we could identify. Unrelated dual pathology, while rare, must be considered amongst the list of differential diagnoses in patients who present with multiple lesions, and highlights the importance of separate histological confirmation prior to integrated management. Copyright © 2018 Elsevier Ltd. All rights reserved.

Pathological diagnosis is maybe non-essential for special gastric cancer: Case reports and review

PubMed Central

Song, Wu; Chen, Chun-Yu; Xu, Jian-Bo; Ye, Jin-Ning; Wang, Liang; Chen, Chuang-Qi; Zhang, Xin-Hua; Cai, Shi-Rong; Zhan, Wen-Hua; He, Yu-Long

2013-01-01

Histopathological results are critical for the diagnosis and surgical decision regarding gastric cancer. However, opposite opinions from radiology and pathology can sometimes affect clinical decisions. The two cases reported in this article were both highly suspected as gastric cancer by clinical manifestations and radiologic findings, although both showed negative results in the first biopsy examination. One was confirmed as gastric cancer by the time of the 6th biopsy, while the other was still negative even after 8 biopsies. With a definite pathologic result and the agreement of the patient for the latter case, both of them finally received surgery. Postoperative pathological examination revealed findings that were the same as Borrmann type IV gastric cancer. We believed that duplicate biopsies under radiologic guidance were necessary for highly suspected gastric cancer cases in the absence of a definite pathology result, and patients should be under close follow-up. We propose that, if gastric cancer is highly suspected when typical radiology changes of widely diffuse gastric parietal lesions suffice to exclude lymphoma and other similar situations, and even in absence of a positive biopsy result, a diagnostic laparotomy under laparoscopy and even radical gastrectomy may be reasonably performed by an experienced gastric cancer center with the agreement of the patient after being decided by a multidisciplinary discussion team. PMID:23840133

Percutaneous CT and Fluoroscopy-Guided Screw Fixation of Pathological Fractures in the Shoulder Girdle: Technical Report of 3 Cases.

PubMed

Garnon, Julien; Koch, Guillaume; Ramamurthy, Nitin; Caudrelier, Jean; Rao, Pramod; Tsoumakidou, Georgia; Cazzato, Roberto Luigi; Gangi, Afshin

2016-09-01

To review our initial experience with percutaneous CT and fluoroscopy-guided screw fixation of pathological shoulder-girdle fractures. Between May 2014 and June 2015, three consecutive oncologic patients (mean age 65 years; range 57-75 years) with symptomatic pathological shoulder-girdle fractures unsuitable for surgery and radiotherapy underwent percutaneous image-guided screw fixation. Fractures occurred through metastases (n = 2) or a post-ablation cavity (n = 1). Mechanical properties of osteosynthesis were adjudged superior to stand-alone cementoplasty in each case. Cannulated screws were placed under combined CT and fluoroscopic guidance with complementary radiofrequency ablation or cementoplasty to optimise local palliation and secure screw fixation, respectively, in two cases. Follow-up was undertaken every few weeks until mortality or most recent appointment. Four pathological fractures were treated in three patients (2 acromion, 1 clavicular, 1 coracoid). Mean size of associated lesion was 2.6 cm (range 1-4.5 cm). Technical success was achieved in all cases (100 %), without complications. Good palliation and restoration of mobility were observed in two cases at 2-3 months; one case could not be followed due to early post-procedural oncologic mortality. Percutaneous image-guided shoulder-girdle osteosynthesis appears technically feasible with good short-term efficacy in this complex patient subset. Further studies are warranted to confirm these promising initial results.

Desensitization of triggers and urge reprocessing for pathological gambling: a case series.

PubMed

Bae, Hwallip; Han, Changwoo; Kim, Daeho

2015-03-01

This case series introduces the desensitization of triggers and urge reprocessing (DeTUR), as a promising adjunctive therapy in addition to comprehensive treatment package for pathological gambling. This addiction protocol of eye movement desensitization and reprocessing was delivered to four male inpatients admitted to a 10-week inpatient program for pathological gambling. The therapist gave three 60-min weekly sessions of the DeTUR using bilateral stimulation (horizontal eye movements or alternative tactile stimuli) focusing on the hierarchy of triggering situations and the urge to initiate gambling behaviors. After treatment, self-reported gambling symptoms, depression, anxiety, and impulsiveness were all improved, and all the participants reported satisfaction with the therapy. They were followed up for 6 months and all maintained their abstinence from gambling and their symptomatic improvements. Given the efficiency (i.e., brevity and efficacy) of the treatment, a controlled study to confirm the effects of the DeTUR on pathological gambling would be justified.

Total humerus replacement for osteosarcoma with proximal part of humerus: a case report

PubMed Central

2012-01-01

Incisional biopsy and intramedullary pinning were performed for pathological fracture associated with a malignant bone tumor of the proximal humerus. Osteosarcoma, for which preoperative chemotherapy had been performed, was confirmed by postoperative pathological examination. To achieve wide resection and acquire a safe resected margin, total humerus replacement was performed, and the whole humerus was reconstructed using the Howmedica Modular Reconstruction system. The patient resumed normal activities, although mild contracture of the elbow joint remains 8 years after surgery. PMID:22333118

[Clinical, pathological and imaging features of primary pelvic Ewing's sarcoma].

PubMed

Liu, J; Chen, Y; Ling, X L; Gong, Y; Ding, J P; Zhang, Z K; Wang, Y J

2016-07-19

To explore the clinical, pathological and imaging features of Ewing's sarcoma in pelvis and to improve knowledge and diagnosis of the disease. A retrospective analysis of the clinical, pathological and imaging data of pathologically confirmed 13 cases of Ewing's sarcoma in pelvis was carried out between May 2008 and March 2016 in the Affiliated Hospital of Hangzhou Normal University, the Third Hospital of Hebei Medical University and the Second Hospital of Hebei Medical University. The median age 13 cases of pelvic primary Ewing's sarcoma was 17 years old.The X-ray and CT imagings showed osteolytic and mixed bone destruction, CT showed mixed type in 10 cases, 8 cases of bone tumors as a flocculent, 10 cases of bone expansion failure, 10 cases of periosteal reaction, the layered 5 cases, radial in 5 cases.Thirteen cases showed soft tissue mass, soft tissue mass was equal or slightly lower density.Four cases showed heterogeneous contrast enhancement.The lesions showed low signal in T1WI and mixed high signal in T2WI of magnetic resonance imaging(MRI). The boundary of the lesions were obscure, and 5 cases had patchy necrosis area, and 9 cases had incomplete false capsule, surrounding soft tissue was violated.Four cases showed heterogeneous contrast enhancement after MRI enhancement scan. The age of onset of Ewing's sarcoma of the pelvis is more concentrated in about 15 years.The imaging feaures are mixed bone destruction and more bone is swelling and permeability damage, soft tissue mass is larger, bone tumor is cloudy or acicular, periosteal reaction in a layered and radial, most cases show that the false envelope is not complete.Combined with clinical and imaging examination, the diagnosis of the disease can be made.

Portal venous gas detected on computed tomography in emergency situations: surgery is still necessary.

PubMed

Monneuse, Olivier; Pilleul, Frank; Barth, Xavier; Gruner, Laurent; Allaouchiche, Bernard; Valette, Pierre-Jean; Tissot, E

2007-05-01

Portal venous gas (PVG) has been reported to be associated with lethal surgical diagnosis. Recent studies tend to confirm the clinical significance of gas in the portal vein; however, some patients are managed without surgical treatment. The aim of this study was to assess both the diagnoses and the treatment of patients with PVG in an emergency surgical setting. We performed a retrospective chart review of 15 patients with PVG in the emergency setting detected by computed tomography (CT) between July 1999 and July 2004. Characteristics assessed included age, sex, clinical presentation, first CT diagnosis of both PVG and the underlying pathology, American Society of Anesthesiologists (ASA) score, surgical findings, final clinical diagnosis, duration of hospitalization, and evolution of the illness/mortality. All patients were examined one month after operation. This series of 5 women and 10 men ranged in age from 38 to 90 years at the time they underwent emergency surgical treatment. The mean preoperative ASA score was 4.20. Computed tomography diagnosed the underlying pathology in all cases: bowel obstruction (4 cases), bowel necrosis (9 cases), and diffuse peritonitis (2 cases). The mean length of hospital stay was 12.4 days. The mortality rate was 46.6%; (7 patients). A wide range of pathologies can generate PVG. Computed tomography can detect both the presence of gas and the underlying pathology. In emergency situations, all the diagnosed causal pathologies required a surgical procedure without delay. We report that the prognosis was related to the pathology itself and was not influenced by the presence of PVG.

[Use of the CO2 laser in the treatment of pathologic changes in the vulva, vagina and uterine cervix].

PubMed

Stanimirović, B; Zivanović, Z; Popović-Lazić, J

1990-01-01

In the period from April 1987 to April 1990, 230 patients with pathological changes of the vulva, vagina and cervix uteri were treated with the CO2-laser. The diagnosis and pretreatment stages of the diseases were confirmed by the cytodiagnostic, colposcopic and histopathological results of the biophysics. In most cases, DNA-hybridization of human papilloma viruses confirmed their virus etiology. Twenty patients had peak condyloma of the vulva and vagina, 34 had benign cervical diseases, 65 were at the premalignant and 111 in the first stages of malignant cervical disease. Vaporizations, conical or cylindrical excisions were performed depending on the nature of disease and its localisation. The average age of operated patients was 30.6 years and the average parity 0.69. Operations were performed using analgesia and in rare cases total anesthesia. After the excision treatment, the tissue was checked histo-pathologically according to the principle of series. The complications were very rare. After operation, postoperative control was performed after 3.9 and 15 months, and later once a year. The results have shown that one treatment was sufficient in 80% of patients for curing vulvar and vaginal disease and 20% patients needed repeat because of the condyloma that relapsed. After the first treatment, benign and premalignant cervical diseases were cured in 100% of cases. In 95.4% operated patients at the first stages of cervical malignant diseases, the excisional treatment was final and in 4.6% needed an additional radical therapy because of a higher stage of lesion found by the conular histo-pathological analysis. There were no relapses relating to the cervix.

The molecular mechanisms on glomangiopericytoma invasion

PubMed Central

2013-01-01

Purpose To observed the imaging and pathological features of the glomangiopericytoma. Experimental design In this paper we report a typical case of glomangiopericytoma arising in the skull base area and summarize the clinical manifestations, imaging and pathological features of such diseases. Results Immunohistochemical staining confirmed the tumor cells were strongly positive to Vim, SMA, MSA and negative to CD31, CD34. Partial cells were positive to FVIII. The imaging can’t confirm the diagnosis but indicate the the tumor has intact envelope.The cells in the tumor envelope is positive to Vim and negative SMA and FVIII. These findings were compatible with glomangiopericytoma and the cells in the tumor envelope is not glomangiopericytoma cells. Conclusion In view of the clinical and pathological features of the glomangiopericytoma, we believe that the surgery is the best treatment so far and the tumor can be resected completely. The above results can be preliminary reason to explain the low recurrence of such diseases. PMID:24074285

[Cerebral gliosarcoma: clinico-pathologic study of 8 cases].

PubMed

Ayadi, Lobna; Charfi, Slim; Khabir, Abdemajid; Kalle, Rim; Sellami, Ahmed; Makni, Saloua; Boudawara, Zaher; Sellami-Boudawara, Tahya

2010-03-01

Gliosarcomas are biphasic neoplasms composed of a glioblastoma admixed to a sarcomatous component with different lines of differentiation. Histogenesis of these tumors is still discussed. Our objective is to specify clinical and pathological characteristics of this rare neoplasm and to discuss its histogenesis. Retrospective study of eight cases of gliosarcomas diagnosed between January 1998 and December 2004. Clinical, radiological, therapeutic and follow-up data were reviewed. Histological features and immunohistochemical results were also included in this review. Five patients were male, three women with a median age of 50.7 (range 31-74 years). Symptoms were dominated by intracranial hypertension and paralysis. The most common location was parietal or temporo-parietal (5 cases: 62.5%). Pathological exam including histochemical and immunohistochemical study confirmed the diagnosis of gliosarcoma in all cases. Sarcomatous component had features of fibrosarcoma in 5 cases, osteosarcoma in 2 cases and malignant fibrous histiocytoma in 1 case. All patients were treated by surgical excision (complete in five cases and partial in three cases). Adjuvant radiotherapy was received in three cases. One patient was lost on follow-up. Two patients died from postoperative. complications and the five remaining patients died with a medium follow up of 9 months (extremes: 2-24 months). Clinical, radiological and follow-up features of gliosarcomas share great similarities with glioblastomas. Histopathological, histochemical and immunohistochemical studies are helpful in accuracy diagnosis. Recent cytogenetic and molecular data support a monoclonal origin for these tumors.

Histologic patterns of thymic involvement in Langerhans cell proliferations: a clinicopathologic study and review of the literature.

PubMed

Picarsic, Jennifer; Egeler, R Maarten; Chikwava, Kudakwashe; Patterson, Kathleen; Jaffe, Ronald

2015-01-01

Thymic involvement by Langerhans cell histiocytosis (LCH) has been described mainly in isolated case reports. A description of the histopathologic patterns of LCH proliferations in the thymus, together with therapeutic implications, has not, to our knowledge, been previously addressed. The pathology consultation files at Children's Hospital of Pittsburgh of the University of Pennsylvania Medical Center were reviewed for cases of thymic involvement by LCH. Relevant cases in the literature were also reviewed, and the histopathology and clinical course of those cases were collected. Nine consultation cases of thymic involvement were reviewed, together with 23 cases in the literature, which provided adequate pathologic description and ancillary confirmation (n  =  32), revealing 4 distinct pathologic groups. Group 1 showed microscopic collection of hyperplastic LCH-like cells in incidental thymectomies of patients without LCH disease, requiring no further treatment (n  =  7; 22%). Group 2 showed solitary and/or cystic LCH of the thymus with gland disruption, and at least 3 cases resolved without systemic therapy (n  =  10; 31%). Group 3 showed more variable thymic involvement in multisystemic LCH disease, with either a medullary restricted pattern or more diffuse gland involvement, requiring adjuvant therapy and having a higher mortality rate (n  =  13; 41%). Group 4 showed a mixed histiocytic lesion with a concurrent LCH and juvenile xanthogranuloma-like proliferation (n  =  2; 6%). Thymic involvement in LCH is quite rare. Based on our cases and those in the literature, we propose 4 distinct pathologic groups of thymic involvement in Langerhans cell proliferations with relevance for diagnosis and treatment.

Percutaneous CT and Fluoroscopy-Guided Screw Fixation of Pathological Fractures in the Shoulder Girdle: Technical Report of 3 Cases

DOE Office of Scientific and Technical Information (OSTI.GOV)

Garnon, Julien, E-mail: juliengarnon@gmail.com; Koch, Guillaume, E-mail: Guillaume.koch@gmail.com; Ramamurthy, Nitin, E-mail: Nitin-ramamurthy@hotmail.com

ObjectiveTo review our initial experience with percutaneous CT and fluoroscopy-guided screw fixation of pathological shoulder-girdle fractures.Materials and MethodsBetween May 2014 and June 2015, three consecutive oncologic patients (mean age 65 years; range 57–75 years) with symptomatic pathological shoulder-girdle fractures unsuitable for surgery and radiotherapy underwent percutaneous image-guided screw fixation. Fractures occurred through metastases (n = 2) or a post-ablation cavity (n = 1). Mechanical properties of osteosynthesis were adjudged superior to stand-alone cementoplasty in each case. Cannulated screws were placed under combined CT and fluoroscopic guidance with complementary radiofrequency ablation or cementoplasty to optimise local palliation and secure screw fixation, respectively, in two cases. Follow-up wasmore » undertaken every few weeks until mortality or most recent appointment.ResultsFour pathological fractures were treated in three patients (2 acromion, 1 clavicular, 1 coracoid). Mean size of associated lesion was 2.6 cm (range 1–4.5 cm). Technical success was achieved in all cases (100 %), without complications. Good palliation and restoration of mobility were observed in two cases at 2–3 months; one case could not be followed due to early post-procedural oncologic mortality.ConclusionPercutaneous image-guided shoulder-girdle osteosynthesis appears technically feasible with good short-term efficacy in this complex patient subset. Further studies are warranted to confirm these promising initial results.« less

Spermatocytic seminoma: review of the literature and description of a new case of the anaplastic variant.

PubMed

Lombardi, Mariano; Valli, Mirca; Brisigotti, Massimo; Rosai, Juan

2011-02-01

The aims of this paper were to review the literature of Spermatocytic Seminoma (SS) updating its clinico-pathological features and to present a new case of the exceptionally rare variant of this tumor known as anaplastic which only five cases have been reported. Many studies have confirmed that SS is a distinct neoplasm both clinically and pathologically from classical Seminoma and it differs from the latter especially in regard to behavior, characterized by an almost complete inability to metastasize with only very few convincing examples described with metastatic behavior. There is general agreement that orchidectomy is sufficient therapy for SS and that surveillance following surgery is the preferred management option. Surprisingly, the presence of an anaplastic component does not seem to impact on this excellent prognosis. Very different is the case of sarcomatous transformation, for which further therapy after orchiectomy is advisable.

[Lymphadenopathy caused by Toxoplasma in an intramammary lymph node: role of molecular biology in the diagnosis].

PubMed

Voglino, G; Arisio, R; Novero, D; Marchi, C; Fessia, L

1997-08-01

We describe a case of Toxoplasma gondii lymphoadenopathy in an intramammary lymph node in a 22 year old woman. Clinical evidence and ultrasound were suggestive for fibroadenoma, while cytology on fine needle aspiration suspected a lymphomatous lesion. The pathological examination demonstrated a lymph node with granulomatous foci with epithelioid histiocytes, consistent with Toxoplasma gondii lymphadenopathy. The pathological finding was confirmed by serological tests and by PCR (Polymerase Chain Reaction) using specific primers designed on ribosomal 18s DNA sequence of Toxoplasma gondii. The aim of this work is to emphasize the role of molecular biology techniques as an aid to pathological diagnosis in parasite diseases.

[Clinical analysis of thoracoscopy of 30 coalworker's pneumoconiosiswith pleural effusion cases].

PubMed

Liang, Yandong; Jiang, Ruiling; Yu, Chunxiao; Huang, Cheng

2015-07-01

To investigate the diagnostic value of thoracoscopy on idiopathic coalworker's pneumoconiosis with pleural effusion in general medicine. Routine (general medicine) thoracoscopyof patients suffering from iIdiopathiccoalworker's pneumoconiosis with pleural effusion, pathological examination of lesions obtained (direct vision). Pathological examination revealed grayish-white miliary nodules with multiple protruding nodules, irregular focal pleura thickening, pulmonary congestion, edema, fibrous adhesion. Thorascopy produced a diagnostic rate of 93.3%. Confirmed cases includes 13 cases of tuberculous pleurisy, 11 cases of malignant pleural effusion, 4 cases of cardiac insufficiency with pleural effusion and 2 cases of idiopathic pleural effusion, with no serious complications. Thoracoscopy of idiopathic coalworker's pneumoconiosis with pleural effusion is a safe, accurate diagnostic methodin general medicine, and could benefit the establishment of a treatment method quickly, visual observation of the lesions of patients suffering from coalworker's pneumoconiosis with pleural effusion using thoracoscopy, and at the same time offer preliminary investigationof the correlation between the intensity and compactibilityof coal macule distribution and clinical stages of coalworker's Pneumoconiosis.

[Digital angiography and lipiodol computerized tomography in the anatomopathological framework of hepatocarcinoma].

PubMed

Pozzi-Mucelli, R; Pozzi-Mucelli, R; Pagnan, L; Dalla Palma, L

1994-12-01

The introduction of therapies other than conventional surgery of hepatocellular carcinoma (HCC) requires an accurate pathologic classification, which is important because it is well known that HCC may have multicentric growth. The Liver Cancer Study Group of Japan has proposed a classification dividing HCCs into three macroscopic forms from the pathologic point of view: nodular, massive and infiltrating HCCs. The nodular type is subdivided into four types: single nodular type, single nodular type with surrounding proliferation, multinodular fused type and multinodular type. Forty-six HCC patients were examined with Lipiodol Computed Tomography (LCT) to investigate the agreement between pathologic and imaging findings. LCT proved to be in close agreement with pathologic findings. Sixteen cases were classified as type I (single nodular type), 8 as type II (single nodular type with limited foci), 1 as type III (multinodular fused type), 18 as type IV (multiple nodular type with diffuse foci) and 3 cases as type V (massive form). No cases of infiltrative forms were observed in our series. Based on LCT findings, the capabilities of digital subtraction angiography (DSA) were studied in the pathologic classification of HCCs. DSA exhibited some limitations in the pathologic classification of HCCs in 5 of 16 patients with type I lesions. In these cases DSA suggested false-positive diagnoses because of regenerative nodules in cirrhotic liver in 3 cases and of daughter nodules (not confirmed at LCT) in 2 cases. In 7 of 8 patients with type II HCCs, DSA failed to show the daughter nodules surrounding the main nodule. In the 18 patients with multiple distant nodules (type IV), DSA was less sensitive in defining nodule number and site. In the massive form, the information obtained with LCT and DSA was comparable. In conclusion, LCT should be considered a basic examination in the study of HCC extent. Based on LCT findings, the most appropriate treatment can be selected, be it surgery, alcohol injection, or intraarterial chemoembolization.

Frozen section pathology for decision making in parotid surgery.

PubMed

Olsen, Kerry D; Moore, Eric J; Lewis, Jean E

2013-12-01

For parotid lesions, the high accuracy and utility of intraoperative frozen section (FS) pathology, compared with permanent section pathology, facilitates intraoperative decision making about the extent of surgery required. To demonstrate the accuracy and utility of FS pathology of parotid lesions as one factor in intraoperative decision making. Retrospective review of patients undergoing parotidectomy at a tertiary care center. Evaluation of the accuracy of FS pathology for parotid surgery by comparing FS pathology results with those of permanent section. Documented changes from FS to permanent section in 1339 parotidectomy pathology reports conducted from January 1, 2000, through December 31, 2009, included 693 benign and 268 primary and metastatic malignant tumors. Changes in diagnosis were found from benign to malignant (n = 11) and malignant to benign (n = 2). Sensitivity and specificity of a malignant diagnosis were 98.5% and 99.0%, respectively. Other changes were for lymphoma vs inflammation or lymphoma typing (n = 89) and for confirmation of or change in tumor type for benign (n = 36) or malignant (n = 69) tumors. No case changed from low- to high-grade malignant tumor. Only 4 cases that changed from FS to permanent section would have affected intraoperative decision making. Three patients underwent additional surgery 2 to 3 weeks later. Overall, only 1 patient was overtreated (lymphoma initially deemed carcinoma). Frozen section pathology for parotid lesions has high accuracy and utility in intraoperative decision making, facilitating timely complete procedures.

Characteristics of a Breast Pathology Consultation Practice.

PubMed

East, Ellen G; Zhao, Lili; Pang, Judy C; Jorns, Julie M

2017-04-01

- Intradepartmental consultation is a routine practice commonly used for new diagnoses. Expert interinstitutional case review provides insight into particularly challenging cases. - To investigate the practice of breast pathology consultation at a large tertiary care center. - We reviewed breast pathology cases sent for private consultation and internal cases reviewed by multiple pathologists at a tertiary center. Requisitions and reports were evaluated for diagnostic reason for consultation, rate of multiple pathologist review at the tertiary center, use of immunohistochemistry, and, for private consultation cases, type of sender and concordance with the outside diagnosis. - In the 985 private consultation cases, the most frequent reasons for review were borderline atypia (292 of 878; 33.3%), papillary lesion classification (151 of 878; 17.2%), evaluating invasion (123 of 878; 14%), subtyping carcinoma (75 of 878; 8.5%), and spindle cell (67 of 878; 7.6%) and fibroepithelial (65 of 878; 7.4%) lesion classification. Of 4981 consecutive internal cases, 358 (7.2%) were reviewed, most frequently for borderline atypia (90 of 358; 25.1%), subtyping carcinoma (63 of 358; 17.6%), staging/prognostic features (59 of 358; 16.5%), fibroepithelial lesion classification (45 of 358; 12.6%), evaluating invasion (37 of 358; 10.3%), and papillary (20 of 358; 5.6%) and spindle cell (18 of 358; 5.0%) lesion classification. Of all internal cases, those with a final diagnosis of atypia had a significantly higher rate of review (58 of 241; 24.1%) than those with benign (119 of 2933; 4.1%) or carcinoma (182 of 1807; 10.1%) diagnoses. Immunohistochemistry aided in diagnosis of 39.7% (391 of 985) and 21.2% (76 of 359) of consultation and internally reviewed cases, respectively. - This study confirms areas of breast pathology that represent diagnostic challenge and supports that pathologists are appropriately using expert consultation.

Characteristic clinical features of Aspergillus appendicitis: Case report and literature review.

PubMed

Gjeorgjievski, Mihajlo; Amin, Mitual B; Cappell, Mitchell S

2015-11-28

This work aims to facilitate diagnosing Aspergillus appendicitis, which can be missed clinically due to its rarity, by proposing a clinical pentad for Aspergillus appendicitis based on literature review and one new case. The currently reported case of pathologically-proven Aspergillus appendicitis was identified by computerized search of pathology database at William Beaumont Hospital, 1999-2014. Prior cases were identified by computerized literature search. Among 10980 pathology reports of pathologically-proven appendicitis, one case of Aspergillus appendicitis was identified (rate = 0.01%). A young boy with profound neutropenia, recent chemotherapy, and acute myelogenous leukemia presented with right lower quadrant pain, pyrexia, and generalized malaise. Abdominal computed tomography scan showed a thickened appendiceal wall and periappendiceal inflammation, suggesting appendicitis. Emergent laparotomy showed an inflamed, thickened appendix, which was resected. The patient did poorly postoperatively with low-grade-fevers while receiving antibacterial therapy, but rapidly improved after initiating amphotericin therapy. Microscopic examination of a silver stain of the appendectomy specimen revealed fungi with characteristic Aspergillus morphology, findings confirmed by immunohistochemistry. Primary Aspergillus appendicitis is exceptionally rare, with only 3 previously reported cases. All three cases presented with (1)-neutropenia, (2)-recent chemotherapy, (3)-acute leukemia, and (4)-suspected appendicitis; (5)-the two prior cases initially treated with antibacterial therapy, fared poorly before instituting anti-Aspergillus therapy. The current patient satisfied all these five criteria. Based on these four cases, a clinical pentad is proposed for Aspergillus appendicitis: clinically-suspected appendicitis, neutropenia, recent chemotherapy, acute leukemia, and poor clinical response if treated solely by antibacterial/anti-candidial therapy. Patients presenting with this proposed pentad may benefit from testing for Aspergillus infection by silver-stains/immunohistochemistry and considering empirical anti-Aspergillus therapy pending a tissue diagnosis.

Twinkle artefact in the ultrasound diagnosis of superficial epidermoid cysts

PubMed Central

Clarke, Richard; Suresh, Priya; Thomas, Rose

2016-01-01

Aim The aim of the study was to evaluate whether the twinkle artefact is a valuable feature in the sonographic diagnosis of superficial epidermoid cysts. Materials and methods A retrospective search was undertaken of our institution’s Radiology Information System and pathology database to identify cases of superficial masses showing the twinkle artefact that proceeded to surgical excision. Results Eighteen superficial masses demonstrating the twinkle artefact were identified that were submitted for pathological analysis. Of these, 17 were confirmed to represent epidermoid cysts and only 1 case had an alternative diagnosis (proliferating trichilemmal cyst). Conclusion The presence of the twinkle artefact appears to be a specific and valuable ancillary sonographic feature for the diagnosis of superficial epidermoid cysts. PMID:27867407

Suspected placenta accreta and cesarean hysterectomy: observational cohort utilizing an intraoperative decision strategy.

PubMed

Weiniger, Carolyn F; Kabiri, Doron; Ginosar, Yehuda; Ezra, Yossef; Shachar, BatZion; Lyell, Deirdre J

2016-03-01

Planned cesarean hysterectomy (CH) is recommended to minimize morbidity for suspected placenta accreta (PA), yet this ends fertility. We examined CH frequency and post-operative morbidities for suspected PA cases when an intra-operative decision strategy to perform CH was used. Suspected PA cases were pre-operatively identified in one tertiary care center. Women were assessed intra-operatively, prior to uterine incision, for immediate CH or for attempted placental separation. We compared outcomes among women with versus without PA (surgical and/or pathologic diagnosis), and examined outcomes following immediate CH versus attempted placental separation. Our cohort, from 2002 to 2012, comprised 99 women with suspected PA; 54 (54.5%) had PA diagnosed by surgery/pathology, and 45 (45.5%) did not. Among women diagnoses surgically or pathologically with PA, CH was performed for 46/54 (85%); 8 women with suspected PA had successful placental separation. 27 of the 46 CH were performed immediately following uterine wall examination and 19 were performed following attempted placental separation. We received histological confirmation of the clinical placenta accreta diagnosis for 24/46 (52.2%) cases, and in 22/46 (47.8%) cases the histology did not confirm the clinical diagnosis. Surgery duration, packed cell transfusion requirement and postoperative outcomes were similar among women with PA regardless of immediate CH versus attempted placental separation, except for a higher cystotomy rates following attempted placental separation. Emergency deliveries were performed at significantly earlier gestational ages. Among women with suspected PA, an intra-operative CH decision allows some women to avoid CH. Consideration of attempted placental separation did not increase blood transfusion or post-operative complications, but was associated with a higher rate of cystotomy. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

A case report of ocular toxocariasis.

PubMed

Azira, N M S; Zeehaida, M

2011-04-01

Ocular toxocariasis is prevalent among children. The symptoms and signs may mimic other ocular pathologies such as malignancies and other infectious diseases (such as toxoplasmosis and syphilis). We presented a case of progressive blurring of vision in a single eye of a 9-year-old boy. The presence of anti-toxocara antibody in serum samples helps to confirmation the diagnosis in our patient. Despite of treatment, the boy had lost his vision on the affected eye.

Cingulate Epilepsy

PubMed Central

Alkawadri, Rafeed; So, Norman K.; Van Ness, Paul C.; Alexopoulos, Andreas V.

2016-01-01

IMPORTANCE The literature on cingulate gyrus epilepsy in the magnetic resonance imaging era is limited to case reports and small case series. To our knowledge, this is the largest study of surgically confirmed epilepsy arising from the anterior or posterior cingulate region. OBJECTIVE To characterize the clinical and electrophysiological findings of epilepsies arising from the anterior and posterior cingulate gyrus. DESIGN, SETTING, AND PARTICIPANTS We studied consecutive cingulate gyrus epilepsy cases identified retrospectively from the Cleveland Clinic and University of Texas Southwestern Medical Center epilepsy databases from 1992 to 2009. Participants included 14 consecutive cases of cingulate gyrus epilepsies confirmed by restricted magnetic resonance image lesions and seizure freedom or marked improvement following lesionectomy. MAIN OUTCOMES AND MEASURES The main outcome measure was improvement in seizure frequency following surgery. The clinical, video electroencephalography, neuroimaging, pathology, and surgical outcome data were reviewed. RESULTS All 14 patients had cingulate epilepsy confirmed by restricted magnetic resonance image lesions and seizure freedom or marked improvement following lesionectomy. They were divided into 3 groups based on anatomical location of the lesion and corresponding seizure semiology. In the posterior cingulate group, all 4 patients had electroclinical findings suggestive of temporal origin of the epilepsy. The anterior cingulate cases were divided into a typical (Bancaud) group (6 cases with hypermotor seizures and infrequent generalization with the presence of fear, laughter, or severe interictal personality changes) and an atypical group (4 cases presenting with simple motor seizures and a tendency for more frequent generalization and less-favorable long-term surgical outcome). All atypical cases were associated with an underlying infiltrative astrocytoma. CONCLUSIONS AND RELEVANCE Posterior cingulate gyrus epilepsy may present with electroclinical findings that are suggestive of temporal lobe epilepsy and can be considered as another example of pseudotemporal epilepsies. The electroclinical presentation and surgical outcome of lesional anterior cingulate epilepsy is possibly influenced by the underlying pathology. This study highlights the difficulty in localizing seizures arising from the cingulate gyrus in the absence of a magnetic resonance image lesion. PMID:23753910

Primary Mucosa-associated Lymphoid Tissue Lymphoma Metachronously Involving Esophagus and Stomach.

PubMed

Byun, Seung Joo; Kang, Hyoun Woo; Cha, Joo Kyoung; Ryoo, Soo Ryeong; Lee, Jeong Hyeon; Kim, Do Yeon; Kim, Eo Jin

2016-05-25

Mucosa-associated lymphoid tissue (MALT) lymphoma is found in various organs as extranodal B cell lymphoma. The gastro-intestinal tract is the most commonly involved extranodal site in MALT lymphoma. However, primary esophageal MALT lymphoma is very rare. In addition, few cases with metachronous gastric involvement have been reported. A 55-year-old man was diagnosed with MALT lymphoma by surveillance esop hagogastroduodenoscopy. A 5 cm esophageal submucosal tumor-like lesion was incidentally revealed by screening esophagogastroduodenoscopy two years prior. Esophagogastroduodenoscopy showed a cylin-drically elongated submucosal mass with normal overlying mucosa in the mid esophagus. He underwent surgery to confirm the diagnosis. The pathologic diagnosis was esophageal MALT lymp homa. He was treated with radiation, which achieved complete remission. Esophagogastroduodenoscopy and chest computed tomography were performed every three to six months, with no evidence of recurrence for 18 months. After 21 months, severa l elevated gastric erosions were found on the great curvature and posterior sides of the midbody and confirmed as MALT lymphoma pathologically. Here we report a case with MALT lymphoma metachronously involving the esophagus and stomach.

Remote infarct of the temporal lobe with coexistent hippocampal sclerosis in mesial temporal lobe epilepsy.

PubMed

Gales, Jordan M; Prayson, Richard A

2016-02-01

In patients undergoing surgery for temporal lobe epilepsy, hippocampal sclerosis remains the most commonly observed pathology. In addition to hippocampal sclerosis, 5% to 30% of these resections on magnetic resonance imaging contain a second independently epileptogenic lesion, commonly referred to as dual pathology. A second etiology of seizure activity, as seen in dual pathology, may serve as an important cause of treatment failure in striving for post-operative seizure control. Dual pathology, consisting of hippocampal sclerosis and a remote infarct of the adjacent cortex, has been rarely reported. Cases of pathologically confirmed hippocampal sclerosis diagnosed between January 2000 and December 2012 (n = 349) were reviewed, and 7 cases of coexistent infarct (2%) formed the study group. Seven individuals (mean age, 29years; range, 5-47 years) with a mean epilepsy duration of 12.5years (3.3-25 years) and a mean pre-surgery frequency of 15 seizures per week (range, 0.5-56 seizures/week) were followed up postoperatively for a mean duration of 64months (range, 3-137 months). Pathologically, the most common form of hippocampal sclerosis observed was International League against Epilepsy type Ib or severe variant (n = 4). Four of the six individuals with post-surgery follow-up were seizure free at last encounter. The reported incidence of dual pathology, including hippocampal sclerosis and remote infarct, is low (2% in the present study) but may indicate a slightly increased risk of developing hippocampal sclerosis in the setting of a remote infarct. Surgical intervention for such cases anecdotally appears effective in achieving seizure control. Copyright © 2015 Elsevier Inc. All rights reserved.

Nasolabial cyst: 18.5 year experience in a pathology laboratory.

PubMed

Lopes-Rocha, R; Dornela Verli, F; Lages Lima, N; Rocha Dos Santos, C R; Aparecida Marinho, S

2011-01-01

This paper offers a survey of nasolabial cysts diagnosed at the Pathology Laboratory of the Universidade Federal dos Vales do Jequitinhonha e Mucuri (Brazil) over a period of 18.5 years, and a case report. A retrospective study was carried out on biopsies performed at the Pathology Laboratory of the UFVJM School of Dentistry between January 1992 and July 2010. Among a total of 2730 histopathological exams of biopsies performed at the UFVJM Pathology Laboratory, 288 (10.54%) were different types of cysts, The prevalence of NLC was 0.29% (8 cases) in relation to the overall sample and 2.43% among all cysts. NLC only occurred in the female gender in the age group spanning from 25 to 62 years (mean: 40.00 years; standard deviation (SD): 13.48 years). The duration of evolution ranged from six to 18 months (mean: 12 months; SD: 3.79 months). The cysts were asymptomatic in 62.5% of cases. Cyst size ranged from 10 to 30 mm (mean: 16.86; SD: 8.00 mm). In six cases (75%), the radiographic exams were consistent with the final diagnosis, whereas there were no records of radiographic images in two cases (25%). Surgical excision was the treatment of choice for all cases. The characteristics of NLC, such as location, elevation of the nasal wing, disappearance of the nasolabial sulcus, nasal obstruction, floatation of the cyst and the presence of cystic liquid in the interior, are enough to suggest the diagnosis of this cyst. However, the confirmation of the diagnosis is performed through biopsy and histopathological analysis.

Colloid cyst and multiple meningiomata in Gorlin syndrome.

PubMed

Li, Yan-Lin; Kwok, Stephen Kai-Yan; Shiu, Kenneth Chun-Kit

2018-01-01

A middle-aged man presented with syncope and confusion. Neuroimaging revealed a third ventricular mass with obstructive hydrocephalus and bilateral convexity meningiomata. The masses were excised and pathology showed a colloid cyst and WHO grade 1 meningiomata respectively. Multisystem workup confirmed Gorlin syndrome. To our knowledge, this is the fourth reported case of Gorlin syndrome associated with colloid cyst, and the first case where multiple meningiomata are also present. Copyright © 2017 Elsevier Ltd. All rights reserved.

A case report of ocular toxocariasis

PubMed Central

Azira, NMS; Zeehaida, M

2011-01-01

Ocular toxocariasis is prevalent among children. The symptoms and signs may mimic other ocular pathologies such as malignancies and other infectious diseases (such as toxoplasmosis and syphilis). We presented a case of progressive blurring of vision in a single eye of a 9-year-old boy. The presence of anti-toxocara antibody in serum samples helps to confirmation the diagnosis in our patient. Despite of treatment, the boy had lost his vision on the affected eye. PMID:23569750

Hilar biliary neurofibroma without neurofibromatosis: case report with contrast-enhanced ultrasound findings.

PubMed

Guo, Huan-Ling; Chen, Li-da; Wang, Zhu; Huang, Yang; Liu, Jin-Ya; Shan, Quan-Yuan; Xie, Xiao-Yan; Lu, Ming-de; Wang, Wei

2016-10-01

Solitary neurofibroma located in the hilum of the liver is extremely rare, particularly without neurofibromatosis. We herein report a case of hilar biliary neurofibroma without signs of von Recklinghausen's disease. A 36-year-old man was admitted to our department with progressive jaundice. The case was diagnosed as hilar cholangiocarcinoma based on preoperative imaging. The patient consequently received a Roux-en-Y hepaticojejunostomy and was confirmed with neurofibroma pathologically. This is the first reported imaging finding of hilar biliary neurofibroma using contrast-enhanced ultrasound, emphasizing the differential diagnosis of biliary tumors.

"Ancient" schwannoma of the submandibular gland: A case report and literature review.

PubMed

Ho, Che-Fang; Wu, Pei-Wen; Lee, Ta-Jen; Huang, Chien-Chia

2017-12-01

Schwannomas are solitary neurogenic tumors that arise from cells of the neural sheath. Ancient schwannoma is a relatively rare variant of schwannoma, characterized by increased cellularity and atypia. These cellular changes could be confusing and make the accurate pathologic diagnosis difficult. A 36-year-old man presented with painless swelling in left submandibular region for more than 2 years. The computed tomography confirmed a well-defined cystic lesion in the left submandibular space, which caused superior and posterior displacement of the left submandibular gland. Surgical excision was performed and the pathology confirmed the diagnosis of ancient schwannoma. To our knowledge, this patient is the second case of primary submandibular ancient schwannoma reported in the literatures. The patient underwent tumor resection and postoperative recovery was uneventful. There were no nerve deficits after the operation. There was no recurrence within 1 year of follow-up. Schwannoma originated from the submandibular gland is extremely rare and only a few cases have been reported. Ancient schwannoma is an even more rare tumor. The increased cellularity and atypia of ancient schwannoma can resemble features of malignancy. Great care must be taken to make differential diagnosis with fibrosarcomas and malignant schwannoma. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

Replication of CLU, CR1, and PICALM associations with alzheimer disease.

PubMed

Carrasquillo, Minerva M; Belbin, Olivia; Hunter, Talisha A; Ma, Li; Bisceglio, Gina D; Zou, Fanggeng; Crook, Julia E; Pankratz, V Shane; Dickson, Dennis W; Graff-Radford, Neill R; Petersen, Ronald C; Morgan, Kevin; Younkin, Steven G

2010-08-01

To test for replication of the association between variants in the CLU, CR1, and PICALM genes with Alzheimer disease. Follow-up case-control association study. The Mayo Clinics at Jacksonville, Florida, and Rochester, Minnesota. Community-based patients of European descent with late-onset Alzheimer disease (LOAD) and controls without dementia who were seen at the Mayo clinics, and autopsy-confirmed cases and controls whose pathology was evaluated at the Mayo Clinic in Jacksonville. Additional samples were obtained from the National Cell Repository for Alzheimer Disease (NCRAD). A total of 1829 LOAD cases and 2576 controls were analyzed. The most significant single-nucleotide polymorphisms in CLU (rs11136000), CR1 (rs3818361), and PICALM (rs3851179) were tested for allelic association with LOAD. Main Outcome Measure Clinical or pathology-confirmed diagnosis of LOAD. Odds ratios for CLU, CR1, and PICALM were 0.82, 1.15, and 0.80, respectively, comparable in direction and magnitude with those originally reported. P values were 8.6 x 10(-5), .014, and 1.3 x 10(-5), respectively; they remain significant even after Bonferroni correction for the 3 single-nucleotide polymorphisms tested. These results show near-perfect replication and provide the first additional evidence that CLU, CR1, and PICALM are associated with the risk of LOAD.

Primary cardiac sarcoma complicated with cerebral infarction and brain metastasis: A case report and literature review.

PubMed

Sun, Yun-Peng; Wang, Xuan; Gao, Yong-Sheng; Zhao, Song; Bai, Yang

2017-12-12

In large autopsy series, the estimated frequency of primary tumors of the heart ranges from 0.0017% to 0.33%. Approximately 25% of primary cardiac tumors are malignant, and nearly 20% of these are sarcomas. To date, a completely feasible surgical resection remains the major treatment measure of cardiac sarcoma, especially for recurrent focal cardiac sarcoma and the recurrence of a restrictive metastasis. Although characteristically medical treatments are recommended, there is no consistent opinion for adjuvant radiotherapy and chemotherapy following an operation. Since these tumors usually undergo extensive spread by the time that the diagnosis is established, the prognosis of cardiac sarcoma remains poor. In this report, we described a case who underwent initial cardiac tumor resection, and was confirmed to be a pleomorphic undifferentiated sarcoma based on pathological findings. However, the patient complicated with cerebral infarction and subsequent brain metastasis sarcoma after the initial surgery, which was confirmed by brain tissue pathology. During the course of therapy, the patient underwent three surgical operations and refused to accept any chemotherapy and radiotherapy intervention. To the best of our knowledge, this is the first case report describing a primary cardiac sarcoma complicated with cerebral infarction and brain metastasis. The management of primary cardiac sarcoma is also discussed.

Systemic Inflammation: Methodological Approaches to Identification of the Common Pathological Process.

PubMed

Zotova, N V; Chereshnev, V A; Gusev, E Yu

2016-01-01

We defined Systemic inflammation (SI) as a "typical, multi-syndrome, phase-specific pathological process, developing from systemic damage and characterized by the total inflammatory reactivity of endotheliocytes, plasma and blood cell factors, connective tissue and, at the final stage, by microcirculatory disorders in vital organs and tissues." The goal of the work: to determine methodological approaches and particular methodical solutions for the problem of identification of SI as a common pathological process. SI can be defined by the presence in plasma of systemic proinflammatory cell stress products-cytokines and other inflammatory mediators, and also by the complexity of other processes signs. We have developed 2 scales: 1) The Reactivity Level scale (RL)-from 0 to 5 points: 0-normal level; RL-5 confirms systemic nature of inflammatory mediator release, and RL- 2-4 defines different degrees of event probability. 2) The SI scale, considering additional criteria along with RL, addresses more integral criteria of SI: the presence of ≥ 5 points according to the SI scale proves the high probability of SI developing. To calculate the RL scale, concentrations of 4 cytokines (IL-6, IL-8, IL-10, TNF-α) and C-reactive protein in plasma were examined. Additional criteria of the SI scale were the following: D-dimers>500ng/ml, cortisol>1380 or <100nmol/l, troponin I≥0.2ng/ml and/or myoglobin≥800ng/ml. 422 patients were included in the study with different septic (n-207) and aseptic (n-215) pathologies. In 190 cases (of 422) there were signs of SI (lethality 38.4%, n-73). In only 5 of 78 cases, lethality was not confirmed by the presence of SI. SI was registered in 100% of cases with septic shock (n-31). There were not significant differences between AU-ROC of CR, SI scale and SOFA to predict death in patients with sepsis and trauma.

Buoyancy disorders in pet axolotls Ambystoma mexicanum: three cases.

PubMed

Takami, Yoshinori; Une, Yumi

2018-01-31

As far as we are aware, there are no previous reports on the pathologic conditions of buoyancy disorders in Ambystoma mexicanum. Herein, we describe various clinical test results, clinical outcomes, and the pathological findings of an experimental pneumonectomy procedure in 3 A. mexicanum exhibiting abnormal buoyancy. The 3 pet A. mexicanum were adults, and their respective ages and body weights were 1, 5, and 6 yr and 48, 55, and 56 g. Two of these cases were confirmed via radiographic examination to have free air within the body cavity, and all 3 cases were found via ultrasonography to have an acoustic shadow within the body cavity and were diagnosed with pneumocoelom. Lung perforations were detected macroscopically in 2 of the cases, and all 3 cases had fibrosis in the caudal ends of the lungs. Removal of the lung lesions eliminated the abnormal buoyancy in all 3 cases. We concluded that air had leaked into the body cavity from the lungs, and we propose that lung lesions are an important cause of buoyancy disorders in A. mexicanum.

A Benign, Mature, Parapharyngeal Teratoma Presenting in an Adult.

PubMed

Punch, Gregory E; Sniezek, Joseph C; Berkey, Bryan D; Petermann, Gregory W

2007-01-01

We present a case of an adult female who presented mildly symptomatic and with a history of having a mass removed from her neck as an infant. Radiographic imaging detected the presence of a heterogeneous, encapsulated mass in the parapharyngeal space that was surgically resected, and subsequently pathologically confirmed to be a benign, mature cystic teratoma.

Surgical pathology extradepartmental consultation practices.

PubMed

Azam, Muhammad; Nakhleh, Raouf E

2002-04-01

To document the practice parameters and case characteristics associated with personal (expert) consultations. We also examine the value, level of participant (customer) satisfaction, turnaround time, and rate of personal consultations. We asked participants in the College of American Pathologists' Q-Probes program to document cases sent for consultation during 4 months or up to 20 cases. They documented patient and specimen characteristics, the turnaround times, and the participants' levels of satisfaction with the consultation experience. One hundred eighty laboratories/surgical pathology practices. One hundred seventy-two (95.6%) were from the United States; the remainder were located in Canada and Australia. Rate and turnaround time of consultations and participant level of satisfaction. A total of 2746 consultation cases were examined for an aggregate consultation rate of 0.5% (median, 0.7%). Institutions with a higher occupied bed size and a greater number of surgical pathology cases both had lower consultation rates (P < or =.05). The median turnaround time (defined as the interval from the date on which the case was sent to the date on which the diagnosis was received) was 6 days. Twenty-nine percent and 68% of cases had a turnaround time within 3 and 7 days, respectively. Fifty-two percent of cases were sent to nationally known experts, and 32% were sent to local experts. Skin (18.0%), hematolymphoid (11.6%), and breast (9.6%) specimens were most commonly sent for consultation. In 70.5% of cases, the consultant confirmed the referring pathologist's original diagnosis, but in 15.9% of cases, the consultant also added significant information. Satisfaction rates were higher with faster turnaround times and verbal reporting. Satisfaction rates were lower for cases in which the patient or the clinician requested the consultation and in which the consultant's diagnosis was ambiguous. This study establishes a multi-institutional consultation rate of 0.5%, defines the nature of surgical pathology consultations, and demonstrates that satisfaction with consultations is associated with a faster turnaround time and receipt of additional, clinically meaningful information.

Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype.

PubMed

Koga, Shunsuke; Kouri, Naomi; Walton, Ronald L; Ebbert, Mark T W; Josephs, Keith A; Litvan, Irene; Graff-Radford, Neill; Ahlskog, J Eric; Uitti, Ryan J; van Gerpen, Jay A; Boeve, Bradley F; Parks, Adam; Ross, Owen A; Dickson, Dennis W

2018-06-20

Corticobasal degeneration (CBD) is a clinically heterogeneous tauopathy, which has overlapping clinicopathologic and genetic characteristics with progressive supranuclear palsy (PSP). This study aimed to elucidate whether transactive response DNA-binding protein of 43 kDa (TDP-43) pathology contributes to clinicopathologic heterogeneity of CBD. Paraffin-embedded sections of the midbrain, pons, subthalamic nucleus, and basal forebrain from 187 autopsy-confirmed CBD cases were screened with immunohistochemistry for phospho-TDP-43. In cases with TDP-43 pathology, additional brain regions (i.e., precentral, cingulate, and superior frontal gyri, hippocampus, medulla, and cerebellum) were immunostained. Hierarchical clustering analysis was performed based on the topographical distribution and severity of TDP-43 pathology, and clinicopathologic and genetic features were compared between the clusters. TDP-43 pathology was observed in 45% of CBD cases, most frequently in midbrain tegmentum (80% of TDP-43-positive cases), followed by subthalamic nucleus (69%). TDP-43-positive CBD was divided into TDP-limited (52%) and TDP-severe (48%) by hierarchical clustering analysis. TDP-severe patients were more likely to have been diagnosed clinically as PSP compared to TDP-limited and TDP-negative patients (80 vs 32 vs 30%, P < 0.001). The presence of downward gaze palsy was the strongest factor for the antemortem diagnosis of PSP, and severe TDP-43 pathology in the midbrain tectum was strongly associated with downward gaze palsy. In addition, tau burden in the olivopontocerebellar system was significantly greater in TDP-positive than TDP-negative CBD. Genetic analyses revealed that MAPT H1/H1 genotype frequency was significantly lower in TDP-severe than in TDP-negative and TDP-limited CBD (65 vs 89 vs 91%, P < 0.001). The homozygous minor allele frequencies in GRN rs5848 and TMEM106B rs3173615 were not significantly different between the three groups. In conclusion, the present study indicates that CBD with severe TDP-43 pathology is a distinct clinicopathologic subtype of CBD, characterized by PSP-like clinical presentations, severe tau pathology in the olivopontocerebellar system, and low frequency of MAPT H1 haplotype.

Adrenal Ewing's Sarcoma in an Elderly Man.

PubMed

Toda, Kazuyoshi; Ishii, Sumiyasu; Yasuoka, Hidetoshi; Nishioka, Masaki; Kobayashi, Takayuki; Horiguchi, Kazuhiko; Tomaru, Takuya; Ozawa, Atsushi; Shibusawa, Nobuyuki; Satoh, Tetsurou; Koshi, Hiromi; Segawa, Atsuki; Shimizu, Shin-Ichi; Oyama, Tetsunari; Yamada, Masanobu

2018-02-15

Ewing's sarcoma usually arises in the bones of children and adolescents. We herein report a 74-year-old man with Ewing's sarcoma in the adrenal gland. The diagnosis was confirmed by a genetic test, pathological studies, and several imaging studies. He already had multiple liver metastases when he was transferred to our hospital and died on the 37th day. The diagnosis was further confirmed by autopsy studies. Adrenal Ewing's sarcoma is very rare, and our patient was older than other reported cases. Ewing's sarcoma should be considered even in elderly patients with adrenal tumors.

Primary Mural Endocarditis Without Valvular Involvement.

PubMed

Tahara, Mai; Nagai, Tomoo; Takase, Yoshiyuki; Takiguchi, Shunichi; Tanaka, Yoshiaki; Kunihara, Takashi; Arakawa, Junko; Nakaya, Kazuhiro; Hamabe, Akira; Gatate, Youdou; Kujiraoka, Takehiko; Tabata, Hirotsugu; Katsushika, Shuichi

2017-03-01

Primary mural endocarditis is an extremely rare infection in which nonvalvular endocardial involvement is seen without any cardiac structural abnormalities such as ventricular septal defects. The rapid and precise diagnosis of this disease remains challenging. We present 2 cases (67- and 47-year-old male patients) of pathologically confirmed primary mural endocarditis that could have been detected by initial transthoracic echocardiography in the emergency department. Transthoracic echocardiography and transesophageal echocardiography play critical roles in the early recognition and confirmation of primary mural endocarditis. © 2017 by the American Institute of Ultrasound in Medicine.

Symmetric corticobasal degeneration (S-CBD).

PubMed

Hassan, Anhar; Whitwell, Jennifer L; Boeve, Bradley F; Jack, Clifford R; Parisi, Joseph E; Dickson, Dennis W; Josephs, Keith A

2010-03-01

Corticobasal degeneration (CBD) is a neurodegenerative disease characterized pathologically by neuronal loss, gliosis and tau deposition in neocortex, basal ganglia and brainstem. Typical clinical presentation is known as corticobasal syndrome (CBS) and involves the core features of progressive asymmetric rigidity and apraxia, accompanied by other signs of cortical and extrapyramidal dysfunction. Asymmetry is also emphasized on neuroimaging. To describe a series of cases of CBD with symmetric clinical features and to compare clinical and imaging features of these symmetric CBD cases (S-CBD) to typical cases of CBS with CBD pathology. All cases of pathologically confirmed CBD from the Mayo Clinic Rochester database were identified. Clinical records were reviewed and quantitative volumetric analysis of symmetric atrophy on head MRI using atlas based parcellation was performed. Subjects were classified as S-CBD if no differences had been observed between right- and left-sided cortical or extrapyramidal signs or symptoms. S-CBD cases were compared to 10 randomly selected typical CBS cases. Five cases (2 female) met criteria for S-CBD. None had limb dystonia, myoclonus, apraxia or alien limb phenomena. S-CBD cases had significantly less asymmetric atrophy when compared with CBS cases (p=0.009); they were also younger at onset (median 61 versus 66 years, p<0.05) and death (67 versus 73 years, p<0.05). Family history was present in 40% of S-CBD cases. CBD can have a symmetric presentation, clinically and radiologically, in which typical features of CBS, such as limb apraxia, myoclonus, dystonia and alien limb phenomenon, may be absent. Copyright (c) 2009 Elsevier Ltd. All rights reserved.

[Costal chondrosarcoma. 4 cases].

PubMed

Ben M'rad, S; el Hammami, S; Merai, S; Kamoun, N; Horchani, H; Ben Miled, K; Kilani, T; Djenayah, F

1999-09-04

Tumors of the rib cage are uncommon and malignant in 29% of the cases. Chondrosarcoma predominates, accounting for 40% of all cases of malignant costal tumors. Four patients (3 women, 1 man, mean age 28.2 years) were hospitalized for costal chondrosarcoma. Pain and tumefaction dominated the clinical presentation. Calcifications suggested the diagnosis in 3 cases. Curative surgery was performed in all cases. Postoperative radiotherapy was unable to improve prognosis in 2 patients. Chondrosarcoma of the ribs is characterized by a strong potential for invasive extension. Diagnosis is suspected on the basis of imaging findings and confirmed at pathology. Surgery is required. Chemotherapy and radiotherapy do not improve prognosis significantly.

Comparing Magnetic Resonance Imaging and High-Resolution Dynamic Ultrasonography for Diagnosis of Plantar Plate Pathology: A Case Series.

PubMed

Donegan, Ryan J; Stauffer, Anthony; Heaslet, Michael; Poliskie, Michael

Plantar plate pathology has gained noticeable attention in recent years as an etiology of lesser metatarsophalangeal joint pain. The heightened clinical awareness has led to the need for more effective diagnostic imaging accuracy. Numerous reports have established the accuracy of both magnetic resonance imaging and ultrasonography for the diagnosis of plantar plate pathology. However, no conclusions have been made regarding which is the superior imaging modality. The present study reports a case series directly comparing high-resolution dynamic ultrasonography and magnetic resonance imaging. A multicenter retrospective comparison of magnetic resonance imaging versus high-resolution dynamic ultrasonography to evaluate plantar plate pathology with surgical confirmation was conducted. The sensitivity, specificity, and positive and negative predictive values for magnetic resonance imaging were 60%, 100%, 100%, and 33%, respectively. The overall diagnostic accuracy compared with the intraoperative findings was 66%. The sensitivity, specificity, and positive and negative predictive values for high-resolution dynamic ultrasound imaging were 100%, 100%, 100%, and 100%, respectively. The overall diagnostic accuracy compared with the intraoperative findings was 100%. The p value using Fisher's exact test for magnetic resonance imaging and high-resolution dynamic ultrasonography was p = .45, a difference that was not statistically significant. High-resolution dynamic ultrasonography had greater accuracy than magnetic resonance imaging in diagnosing lesser metatarsophalangeal joint plantar plate pathology, although the difference was not statistically significant. The present case series suggests that high-resolution dynamic ultrasonography can be considered an equally accurate imaging modality for plantar plate pathology at a potential cost savings compared with magnetic resonance imaging. Therefore, high-resolution dynamic ultrasonography warrants further investigation in a prospective study. Copyright © 2016 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

HGNET-BCOR Tumors of the Cerebellum: Clinicopathologic and Molecular Characterization of 3 Cases.

PubMed

Appay, Romain; Macagno, Nicolas; Padovani, Laetitia; Korshunov, Andrey; Kool, Marcel; André, Nicolas; Scavarda, Didier; Pietsch, Torsten; Figarella-Branger, Dominique

2017-09-01

The central nervous system (CNS) high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR) is a recently described molecular entity. We report 3 new CNS HGNET-BCOR cases sharing common clinical presentation and pathologic features. The 3 cases concerned children aged 3 to 7 years who presented with a voluminous mass of the cerebellum. Pathologic features included proliferation of uniform spindle to ovoid cells with fine chromatin associated with a rich arborizing capillary network. Methylation profiling classified these cases as CNS HGNET-BCOR tumors. Polymerase chain reaction analysis confirmed the presence of internal tandem duplications in the C-terminus of BCOR (BCOR-ITD), a characteristic of these tumors, in all 3 cases. Immunohistochemistry showed a strong nuclear BCOR expression. In 2 cases, local recurrence occurred within 6 months. The third case, a patient who received a craniospinal irradiation after total surgical removal followed by a metronomics maintenance with irinotecan, temozolomide, and itraconazole, is still free of disease 14 months after diagnosis. In summary, CNS HGNET-BCOR represents a rare tumor occurring in young patients with dismal prognosis. BCOR nuclear immunoreactivity is highly suggestive of a BCOR-ITD. Whether CNS HGNET-BCOR should be classified among the category of "embryonal tumors" or within the category of "mesenchymal, nonmeningothelial tumors" remains to be clarified. Because CNS HGNET-BCOR share pathologic features and characteristic BCOR-ITD with clear cell sarcoma of the kidney, these tumors may represent local variants of the same entity.

Childhood maxillary myxoma: case report and review of management.

PubMed

Tincani, Alfio Jose; Araújo, Priscila P C; DelNegro, André; Altemani, Albina; Martins, Antonio Santos

2007-11-01

Myxomas are benign neoplasms of uncertain origin and etiology. First described by Virchow in 1863, they are derived from primitive mesenchymal structures and feature components of the umbilical cord. More recently, in 1995, Takahashi et al., through extensive research confirmed the fibroblastic and histiocytic origin of the tumor. We present a case in a female infant whose outcome and follow-up are discussed as well as a literature review in order to discuss many features of this rare pathology.

Vascular diaphragmatic hernia in a patient with cirrhosis first case report.

PubMed

Lazăr, Mihai I; Ion, Daniela Adriana If

2012-06-14

We report the case of an adult patient recently diagnosed with cirrhosis. The ultrasound evaluation described a multinodular inhomogeneous liver, requiring a magnetic resonance imaging scan for further characterization. The performed magnetic resonance imaging examination confirmed the diagnosis of cirrhosis associated with portal hypertension and detected a vascular left transdiaphragmatic hernia. Although various types of diaphragmatic hernias have been described - congenital or acquired - to the best of our knowledge, this type of pathology has never been reported.

"Irreconcilable differences" between parent and child: a case report of interactional pathology.

PubMed

Tooley, K M

1978-10-01

Certain parents use their child as a representative of their own unacceptable impulses, perceiving the youngster as evil and seeking experts to confirm their opinion. They come to mental health clinics for diagnoses but not treatment; evidence that contradicts their view is ignored out of a need to protect their own precarious psychological balance. The child, in spite of good early adjustment, tends to conform to the parents' preferred perception. Legal and ethical implications for professionals working with such cases are discussed.

Laparoscopic management of ureteral endometriosis: the Stanford University hospital experience with 96 consecutive cases.

PubMed

Bosev, Dorian; Nicoll, Linda M; Bhagan, Lisa; Lemyre, Madeleine; Payne, Christopher K; Gill, Harcharan; Nezhat, Camran

2009-12-01

We report the clinical characteristics and the principles of laparoscopic management of ureteral endometriosis at our institution. We retrospectively reviewed the charts of patients with ureteral endometriosis. Preoperatively 97% of patients complained of pain but only a third had urinary symptoms. The left ureter was affected in 64% of cases and disease was bilateral in 10%. Four patients had hydroureter and 2 had hydronephrosis. To our knowledge this report represents the largest series of laparoscopically treated, pathologically confirmed ureteral endometriotic cases to date. It confirms that laparoscopic diagnosis and management of ureteral endometriosis are safe and efficient. All patients who undergo laparoscopy for endometriosis should be evaluated for possible ureteral involvement regardless of the presence or absence of urinary symptoms, or prior radiological evaluation since undiagnosed ureteral disease may result in loss of renal function.

Dedifferentiated chondrosarcoma: Radiological features, prognostic factors and survival statistics in 23 patients

PubMed Central

Liu, Chenglei; Xi, Yan; Li, Mei; Jiao, Qiong; Zhang, Huizhen; Yang, Qingcheng; Yao, Weiwu

2017-01-01

Background Dedifferentiated chondrosarcoma is a rare, highly malignant tumor with a poor survival. There are many confusing issues concerning the imaging feature that can facilitate early diagnosis and the factors that might be related to outcomes. Methods Twenty-three patients with dedifferentiated chondrosarcoma confirmed by pathology were retrospectively reviewed from 2008 to 2015. The patients’ clinical information, images from radiographs (n = 17), CT (n = 19), and MRI (n = 17), histological features, treatment and prognosis were analyzed. Results There were 12 males and 11 females, and the mean age was 50.39 years old. Fourteen cases affected the axial bone (pelvis, spine), and 9 cases involved the appendicular bone. Seven (41.17%), 9 (47.36), and 12 (66.66%) lesions showed a biphasic nature on radiograph, CT and MRI, respectively. Of the lesions, 17.39% (4/23) were accompanied by pathological fractures. Histologically, the cartilage component was considered histological Grade1 in 12 patients and Grade 2 in 11 patients. The dedifferentiated component showed features of osteosarcoma in 8 cases, malignant fibrous histiocytoma in3 cases, myofibroblastic sarcoma in 1 case and spindle cell sarcoma in 11cases. Twenty-two cases were treated with surgical resection, and 17 cases achieved adequate (wide or radical) surgical margin. In 8 cases, surgery was combined with adjuvant chemotherapy. The overall median survival time was nine months; 17.4% of patients survived to five years. Conclusion Axial bone location, lung metastasis at diagnosis, inadequate surgical margin, incorrect diagnosis before surgery and pathological fractures was related to poorer outcome. Pre- or postoperative chemotherapy had no definitively effect on improved survival. PMID:28301537

Sodium Fluorescein-Guided Resection under the YELLOW 560 nm Surgical Microscope Filter in Malignant Gliomas: Our First 38 Cases Experience.

PubMed

Zhang, Ningning; Tian, Hailong; Huang, Dezhang; Meng, Xianbing; Guo, Wenqiang; Wang, Chaochao; Yin, Xin; Zhang, Hongying; Jiang, Bin; He, Zheng; Wang, Zhigang

2017-01-01

Sodium fluorescein (FL) had been safely used in fluorescence-guided microsurgery for imaging various brain tumors. Under the YELLOW 560 nm surgical microscope filter, low-dose FL as a fluorescent dye helps in visualization. Our study investigated the safety and efficacy of this innovative technique in malignant glioma (MG) patients. 38 patients suffering from MGs confirmed by pathology underwent FL-guided resection under YELLOW 560 nm surgical microscope filter. We retrospectively analyzed the clinical characters, microsurgery procedure, extent of resection, pathology of MGs, progression-free survival (PFS), and overall survival (OS). Thirty-eight patients had MGs (10 WHO grade III, 28 WHO grade IV). With YELLOW 560 nm surgical microscope filter combined with neuronavigation, sodium fluorescein-guided gross total resection (GTR) was achieved in 35 (92.1%) patients and subtotal resection in 3 (7.69%). The sensitivity and specificity of FL were 94.4% and 88.6% regardless of radiographic localization. Intraoperatively, 10 biopsies (10/28 FL[+]) showed "low" or "high" fluorescence in non-contrast-enhancement region and are also confirmed by pathology. Our data showed 6-month PFS of 92.3% and median survival of 11 months. FL-guided resection of MGs under the YELLOW 560 nm surgical microscope filter combined with neuronavigation was safe and effective, especially in non-contrast-MRI regions. It is feasible for improving the extent of resection in MGs especially during emergency cases.

Diverticular disease of the right colon.

PubMed

Radhi, Jasim M; Ramsay, Jennifer A; Boutross-Tadross, Odette

2011-10-06

The incidence of colonic diverticular disease varies with national origin, cultural background and diet. The frequency of this disease increases with advancing age. Right-sided diverticular disease is uncommon and reported to occur in 1-2% of surgical specimens in European and American series. In contrast the disease is more prevalent and reported in 43-50% of specimens in Asian series. Various lines of evidence suggest this variation may represent hereditary differences. The aim of the study is to report all cases of right sided diverticular disease underwent surgical resection or identified during pathological examination of right hemicoloectomy specimens A retrospective review of all surgical specimens with right sided colonic diverticular disease selected from a larger database of all colonic diverticulosis and diverticulitis surgical specimen reported between January 1993 and December 2010 at the Pathology Department McMaster University Medical Centre Canada. The clinical and pathological features of these cases were reviewed The review identified 15 cases of right colon diverticulosis. The clinical diagnoses of these cases were appendicitis, diverticulitis or adenocarcinoma. Eight cases of single congenital perforated diverticuli were identified and seven cases were incidental multiple acquired diverticuli found in specimen resected for right side colonic carcinomas/large adenomas. Laparotomy or laparoscopic assisted haemicolectomies were done for all cases. Pathological examination showed caecal wall thickening with inflammation associated with perforated diverticuli. Histology confirmed true solitary diverticuli that exhibited in two cases thick walled vessels in the submucosa and muscular layer indicating vascular malformation/angiodysplasia. Acquired diverticuli tend to be multiple and are mostly seen in specimens resected for neoplastic right colon diseases. Single true diverticular disease of the right colon is usually of congenital type and affects younger age group and may be associated with angiodysplasia in some cases. Multiple false diverticuli are more seen in association with caecal carcinoma or large adenomas. These are usually asymptomatic and are more seen in older patients. However this study dose not reflects the true incidence of the disease in the general population.

Peripheral neuropathy in patients with HIV infection: consider dual pathology.

PubMed

Miller, R F; Bunting, S; Sadiq, S T; Manji, H

2002-12-01

Two HIV infected patients presented with peripheral neuropathy, in one patient this was originally ascribed to HIV associated mononeuritis multiplex and in the other to stavudine. Investigations confirmed these diagnoses and in both cases genetic analysis identified a second hereditary aetiology: in the first patient hereditary neuropathy with liability to pressure palsies and in the second hereditary motor and sensory neuropathy.

New Phenomenon of Abnormal Auditory Perception Associated with Emotional and Head Trauma: Pathological Confirmation by SPECT Scan

ERIC Educational Resources Information Center

Stephane, Massoud; Hill, Thomas; Matthew, Elizabeth; Folstein, Marshal

2004-01-01

We report the case of an immigrant who suffered from death threats and head trauma while a prisoner of war in Kuwait. Two months later, he began to hear conversations that had taken place previously. These perceptions occurred spontaneously or were induced by the patient's effortful concentration. The single photon emission computerized tomography…

Small vestibular schwannomas presenting with facial nerve palsy.

PubMed

Espahbodi, Mana; Carlson, Matthew L; Fang, Te-Yung; Thompson, Reid C; Haynes, David S

2014-06-01

To describe the surgical management and convalescence of two patients presenting with severe facial nerve weakness associated with small intracanalicular vestibular schwannomas (VS). Retrospective review. Two adult female patients presenting with audiovestibular symptoms and subacute facial nerve paralysis (House-Brackmann Grade IV and V). In both cases, post-contrast T1-weighted magnetic resonance imaging revealed an enhancing lesion within the internal auditory canal without lateral extension beyond the fundus. Translabyrinthine exploration demonstrated vestibular nerve origin of tumor, extrinsic to the facial nerve, and frozen section pathology confirmed schwannoma. Gross total tumor resection with VIIth cranial nerve preservation and decompression of the labyrinthine segment of the facial nerve was performed. Both patients recovered full motor function between 6 and 8 months after surgery. Although rare, small VS may cause severe facial neuropathy, mimicking the presentation of facial nerve schwannomas and other less common pathologies. In the absence of labyrinthine extension on MRI, surgical exploration is the only reliable means of establishing a diagnosis. In the case of confirmed VS, early gross total resection with facial nerve preservation and labyrinthine segment decompression may afford full motor recovery-an outcome that cannot be achieved with facial nerve grafting.

IgG4-related Mikulicz's disease associated with thyroiditis: a case report and review of the literature.

PubMed

Zhang, Yujiao; Du, Yi; Li, Kaijun; He, Jianfeng

2014-03-01

To report an unusual case of IgG4-related Mikulicz's disease associated with thyroiditis. We describe a 25-year-old Chinese man who presented with bilateral, painless swellings of the lachrymal glands, parotid glands, and thyroid nodules. The patient underwent left-sided dacryoadenectomy and the diagnosis of IgG4-related Mikulicz's disease was pathologically confirmed. The size of the right-sided lachrymal gland and parotid glands recovered fundamentally after one month of glucocorticoid therapy. IgG4-related Mikulicz's disease associated with thyroiditis should be considered in the differential diagnosis of bilateral swellings of lachrymal glands, salivary glands, and thyroid nodules. Surgical excision is recommended in order to treat the tumor and to ensure the pathological diagnosis. Glucocorticoid therapy should be considered in association with surgery after removal.

Histopathology of lung disease in the connective tissue diseases.

PubMed

Vivero, Marina; Padera, Robert F

2015-05-01

The pathologic correlates of interstitial lung disease (ILD) secondary to connective tissue disease (CTD) comprise a diverse group of histologic patterns. Lung biopsies in patients with CTD-associated ILD tend to demonstrate simultaneous involvement of multiple anatomic compartments of the lung. Certain histologic patterns tend to predominate in each defined CTD, and it is possible in many cases to confirm connective tissue-associated lung disease and guide patient management using surgical lung biopsy. This article will cover the pulmonary pathologies seen in rheumatoid arthritis, systemic sclerosis, myositis, systemic lupus erythematosus, Sjögren syndrome, and mixed CTD. Copyright © 2015 Elsevier Inc. All rights reserved.

Chemoresistant Gestational Trophoblastic Neoplasia: A Case Report

PubMed Central

M, Sahana

2014-01-01

Gestational trophoblastic neoplasia (GTN) is a disease of women in reproductive age. It is one of the most chemotherapy responsive and highly curable cancer. It is diagnosed when there is clinical, radiologic, pathologic, and/or hormonal evidence of persistent or relapsed gestational trophoblastic disease. In most instances, it is cured by surgical evacuation of the uterus. If persistent, it is treated with chemotherapy which provides response in >90% of the cases. In the unresponsive persistent cases and if the women has completed her child bearing, hysterectomy is generally recommended. Here, we report a rare case of chemoresistant GTN which was confirmed to be placental-site trophoblastic tumour (PSTT) on biopsy. PMID:25177610

An Ectopic Breast Tissue Presenting with Fibroadenoma in Axilla

PubMed Central

Amaranathan, Anandhi; Balaguruswamy, Kanchana; Bhat, Ramachandra V.; Bora, Manash Kumar

2013-01-01

Introduction. The congenital anomalies of breast, especially the polymastia (supernumerary breast) and polythelia (supernumerary nipple), always do not fail to amuse the clinicians because of their varied presentations, associated renal anomalies, and pathologies arising from them. The axillary polymastia is a variant of ectopic breast tissue (EBT). Ectopic breast tissue can undergo the same physiological and pathological processes as the normally located breast. The incidence of fibroadenoma developing in ectopic breast is reported as a rare entity, the most common being the carcinoma. Case Presentation. A 31-year-old Dravidian female presented with a lump of 4 cm in the right axilla for the past year which gradually increased in size, giving discomfort. Our initial differential diagnosis was fibroadenoma, lipoma, and lymphadenopathy. Further investigation and histopathological report of excision biopsy confirmed it as a fibroadenoma on ectopic breast tissue in the axilla. Patient has no associated urological or cardiac anomaly. Conclusion. This case has been reported for its rarity and to reemphasise the importance of screening of EBT for any pathology during routine screening of breast. PMID:23607040

An ectopic breast tissue presenting with fibroadenoma in axilla.

PubMed

Amaranathan, Anandhi; Balaguruswamy, Kanchana; Bhat, Ramachandra V; Bora, Manash Kumar

2013-01-01

Introduction. The congenital anomalies of breast, especially the polymastia (supernumerary breast) and polythelia (supernumerary nipple), always do not fail to amuse the clinicians because of their varied presentations, associated renal anomalies, and pathologies arising from them. The axillary polymastia is a variant of ectopic breast tissue (EBT). Ectopic breast tissue can undergo the same physiological and pathological processes as the normally located breast. The incidence of fibroadenoma developing in ectopic breast is reported as a rare entity, the most common being the carcinoma. Case Presentation. A 31-year-old Dravidian female presented with a lump of 4 cm in the right axilla for the past year which gradually increased in size, giving discomfort. Our initial differential diagnosis was fibroadenoma, lipoma, and lymphadenopathy. Further investigation and histopathological report of excision biopsy confirmed it as a fibroadenoma on ectopic breast tissue in the axilla. Patient has no associated urological or cardiac anomaly. Conclusion. This case has been reported for its rarity and to reemphasise the importance of screening of EBT for any pathology during routine screening of breast.

Placental disease and abnormal umbilical artery Doppler waveforms in trisomy 21 pregnancy: A case-control study.

PubMed

Corry, Edward; Mone, Fionnuala; Segurado, Ricardo; Downey, Paul; McParland, Peter; McAuliffe, Fionnuala M; Mooney, Eoghan E

2016-11-01

The objectives of this study were firstly to determine the proportion of placental pathology in fetuses affected by trisomy 21 (T21) using current pathological descriptive terminology and secondly to examine if a correlation existed between the finding of an abnormal umbilical artery Doppler (UAD) waveform, the presence of T21 and defined placental pathological categories. This case-control study assessed singleton fetuses with karyotypically confirmed trisomy 21 where placental histopathology had been conducted from 2003 to 2015 inclusive, within a university tertiary obstetric centre. This was compared with unselected normal singleton control pregnancies matched within a week of gestation at delivery. Data included birthweight centiles and placental histopathology. Comparisons of Doppler findings across placental pathological categories were performed using statistical analysis. 104 cases were analysed; 52 cases of trisomy 21 and 52 controls. Fetal vascular malperfusion (48.1% vs. 5.8%, p = 0.001) and maturation defects (39.2% vs. 15.7%, p = 0.023) were more common in trisomy 21 placentas. Compared with controls, trisomy 21 fetuses were more likely to have shorter umbilical cords (p = 0.001) and had more UAD abnormalities. Amongst T21 pregnancies, umbilical artery Doppler abnormalities are associated with the presence of maternal vascular malperfusion. Fetal vascular malperfusion and maturation defects are more common in trisomy 21 placentas. Abnormal umbilical artery Doppler waveforms are more common in T21 and are associated with maternal vascular malperfusion. Placental disease may explain the increased rate of intrauterine death in T21. Copyright © 2016 Elsevier Ltd. All rights reserved.

Diagnostic Efficiency in Digital Pathology: A Comparison of Optical Versus Digital Assessment in 510 Surgical Pathology Cases.

PubMed

Mills, Anne M; Gradecki, Sarah E; Horton, Bethany J; Blackwell, Rebecca; Moskaluk, Christopher A; Mandell, James W; Mills, Stacey E; Cathro, Helen P

2018-01-01

Prior work has shown that digital images and microscopic slides can be interpreted with comparable diagnostic accuracy. Although accuracy has been well-validated, the interpretative time for digital images has scarcely been studied and concerns about efficiency remain a major barrier to adoption. We investigated the efficiency of digital pathology when compared with glass slide interpretation in the diagnosis of surgical pathology biopsy and resection specimens. Slides were pulled from 510 surgical pathology cases from 5 organ systems (gastrointestinal, gynecologic, liver, bladder, and brain). Original diagnoses were independently confirmed by 2 validating pathologists. Diagnostic slides were scanned using the Philips IntelliSite Pathology Solution. Each case was assessed independently on digital and optical by 3 reading pathologists, with a ≥6 week washout period between modalities. Reading pathologists recorded assessment times for each modality; digital times included time to load the case. Diagnostic accuracy was determined based on whether a rendered diagnosis differed significantly from the original diagnosis. Statistical analysis was performed to assess for differences in interpretative times across modalities. All 3 reading pathologists showed comparable diagnostic accuracy across optical and digital modalities (mean major discordance rates with original diagnosis: 4.8% vs. 4.4%, respectively). Mean assessment times ranged from 1.2 to 9.1 seconds slower on digital versus optical. The slowest reader showed a significant learning effect during the course of the study so that digital assessment times decreased over time and were comparable with optical times by the end of the series. Organ site and specimen type did not significantly influence differences in interpretative times. In summary, digital image reading times compare favorably relative to glass slides across a variety of organ systems and specimen types. Mean increase in assessment time is 4 seconds/case. This time can be minimized with experience and may be further balanced by the improved ease of electronic chart access allowed by digital slide viewing, as well as quantitative assessments which can be expedited on digital images.

Pathological complete response following neoadjuvant radiotherapy and intraperitoneal perfusion chemotherapy for recurrent colon carcinoma: A case report and literature review

PubMed Central

BIAN, XINYU; LIU, BAORUI; YANG, YANG

2016-01-01

The present study reports the case of a 28-year-old male who was diagnosed with sigmoid colon carcinoma and exhibited local recurrence following radical surgery and 6 cycles of adjuvant chemotherapy. The primary surgery consisted of a partial sigmoidectomy and bladder repair. At 8 months post-chemotherapy, the patient was referred to Nanjing Drum Tower Hospital (Nanjing, China) due to local recurrence at the anastomotic site, which was confirmed by colonoscopy and total abdominal computed tomography. Synchronous intensity modulation radiation therapy and intraperitoneal (IP) perfusion chemotherapy with irinotecan (100 mg/m2) was administered. Following treatment, the object efficacy evaluation revealed a complete response and a second resection of the remaining sigmoid colon was performed. The post-operative results showed a pathological complete response. This case indicated that a combination of therapies, including radiotherapy, IP perfusion chemotherapy and surgery, may be beneficial and effective in patients with recurrent colon cancer. PMID:27073546

Atypical incus necrosis: a case report and literature review.

PubMed

Choudhury, N; Kumar, G; Krishnan, M; Gatland, D J

2008-10-01

We report an atypical case of ossicular necrosis affecting the incus, in the absence of any history of chronic serous otitis media. We also discuss the current theories of incus necrosis. A male patient presented with a history of right unilateral hearing loss and tinnitus. Audiometry confirmed right conductive deafness; tympanometry was normal bilaterally. He underwent a right exploratory tympanotomy, which revealed atypical erosion of the proximal long process of the incus. Middle-ear examination was otherwise normal, with a mobile stapes footplate. The redundant long process of the incus was excised and a partial ossicular replacement prosthesis was inserted, resulting in improved hearing. Ossicular pathologies most commonly affect the incus. The commonest defect is an absent lenticular and distal long process of the incus, which is most commonly associated with chronic otitis media. This is the first reported case of ossicular necrosis, particularly of the proximal long process of the incus, in the absence of chronic middle-ear pathology.

Odontogenic cysts: a retrospective study of 1227 cases in an Iranian population from 1987 to 2007.

PubMed

Sharifian, Mohammad J; Khalili, Maryam

2011-09-01

Odontogenic cysts constitute a major part of oral pathological lesions, but little is known about their distribution patterns in various populations. In this retrospective study, patient records from the archive of the Department of Oral and Maxillofacial Pathology at the Faculty of Dentistry affiliated to the Tehran University of Medical Sciences were reviewed. Cases diagnosed as odontogenic cyst from 1987 to 2007 were selected and histopathologically re-evaluated to confirm the diagnosis. Patients' demographic information (age and sex) and location of the lesion were recorded and analyzed using descriptive statistics. From a total of 8529 files reviewed, the diagnosis of odontogenic cyst was confirmed in 1227 cases (14.4%). The overall male to female ratio was 1.33:1. The patients' age ranged from 3 to 84 years with a mean of 28 years. 49% of cysts were found in maxilla and 50.4% in mandible. Radicular cyst was the most common type followed by dentigerous cyst, odontogenic keratocyst, residual cyst and paradental cyst. Lateral periodontal cyst, eruption cyst, glandular odontogenic cyst and gingival cyst of adults were also reported. The distribution pattern of odontogenic cysts in Iran is relatively similar to that in other parts of the world. The importance of complete clinical reports for final diagnosis of these lesions and routine follow-up examinations is emphasized.

Development and validation of a registry-based definition of eosinophilic esophagitis in Denmark

PubMed Central

Dellon, Evan S; Erichsen, Rune; Pedersen, Lars; Shaheen, Nicholas J; Baron, John A; Sørensen, Henrik T; Vyberg, Mogens

2013-01-01

AIM: To develop and validate a case definition of eosinophilic esophagitis (EoE) in the linked Danish health registries. METHODS: For case definition development, we queried the Danish medical registries from 2006-2007 to identify candidate cases of EoE in Northern Denmark. All International Classification of Diseases-10 (ICD-10) and prescription codes were obtained, and archived pathology slides were obtained and re-reviewed to determine case status. We used an iterative process to select inclusion/exclusion codes, refine the case definition, and optimize sensitivity and specificity. We then re-queried the registries from 2008-2009 to yield a validation set. The case definition algorithm was applied, and sensitivity and specificity were calculated. RESULTS: Of the 51 and 49 candidate cases identified in both the development and validation sets, 21 and 24 had EoE, respectively. Characteristics of EoE cases in the development set [mean age 35 years; 76% male; 86% dysphagia; 103 eosinophils per high-power field (eos/hpf)] were similar to those in the validation set (mean age 42 years; 83% male; 67% dysphagia; 77 eos/hpf). Re-review of archived slides confirmed that the pathology coding for esophageal eosinophilia was correct in greater than 90% of cases. Two registry-based case algorithms based on pathology, ICD-10, and pharmacy codes were successfully generated in the development set, one that was sensitive (90%) and one that was specific (97%). When these algorithms were applied to the validation set, they remained sensitive (88%) and specific (96%). CONCLUSION: Two registry-based definitions, one highly sensitive and one highly specific, were developed and validated for the linked Danish national health databases, making future population-based studies feasible. PMID:23382628

Seborrheic Keratosis of the Conjunctiva: A Case Report

PubMed Central

Kim, Ji Hyun; Bae, Hyoung Won; Lee, Kwang Kil; Kim, Tae Im

2009-01-01

Seborrheic keratosis is a benign epithelial neoplasia that occurs mainly in the skin of the eyelids and face. We describe a case of seborrheic keratosis of the conjunctiva confirmed by histopathology. A 72-year-old man presented with a recurrent conjunctival mass involving the nasal side of his right eye. Clinically, a diagnosis of conjunctival papilloma was made, and a mass excision was performed. The histopathological analysis evidenced a conjunctival-covering epithelium with papillomatous changes and irregular acanthosis, at the expense of a proliferation of basaloid cells. In addition, the lesion exhibited multiple pseudohorn cysts containing keratin. With the above findings, a diagnosis of conjunctival seborrheic keratosis was established. The occurrence of seborrheic keratosis on the conjunctiva is rare. In this case, seborrheic keratosis was confirmed by pathologic report despite its similar appearance with papilloma. Seborrheic keratosis should be considered in the differential diagnosis of conjunctival lesions. PMID:20046694

Possible Alzheimer’s Disease in an Apolipoprotein E2 Homozygote

PubMed Central

Ignatov, Ignat; Belden, Christine; Jacobson, Sandra; Connor, Donald; Sabbagh, Marwan N.

2010-01-01

The objective of this study was to describe a case of Alzheimer’s disease in an ApoE ε2/ε2 homozygote. ApoE ε2/ε2 is the rarest of the apolipoprotein E genotypes, representing only 1.4% of the population. There is only one case reported in the literature of a nonagenarian with minimal cognitive changes whose brain showed AD pathology on postmortem study. Here we report an 87-year-old ApoE ε2/ε2 female who meets clinical criteria for Alzheimer’s disease, with confirmation from neuropsychological testing and PET scan. Clinical course is typical for Alzheimer’s disease with decline on the Mini-Mental Status Examination from a score of 25 to 19 over 3.5 years. The patient is currently treated with donepezil and memantine. In conclusion, a clinically confirmed case of Alzheimer’s disease is rare in Apo E2 homozygotes but can occur. PMID:19158419

Clinical, pathological, and molecular data on desmoplastic/nodular medulloblastoma: case studies and a review of the literature.

PubMed

Siegfried, Aurore; Bertozzi, Anne Isabelle; Bourdeaut, Franck; Sevely, Annick; Loukh, Najat; Grison, Camille; Miquel, Catherine; Lafon, Delphine; Sevenet, Nicolas; Pietsch, Torsten; Dufour, Christelle; Delisle, Marie-Bernadette

2016-01-01

The aim of this study was to better define the clinical and biopathological features of patients with desmoplastic/nodular medulloblastoma (DNMB) and to further characterize this subgroup. 17 children aged < 5 years, with initial DNMB treated according to the HIT-SKK protocol, were evaluated. A retrospective central radiological review, a pathological and immunohistochemical study, and array-CGH and sequencing of germline SUFU and PTCH1 genes were performed. 15 histologically reviewed cases were confirmed as DNMB including three cases of medulloblastoma with extensive nodularity. Median age at diagnosis was 26 months. Radiology showed five cases with a vermis location and one with T2 hyperintensity. All cases showed a SHH immunoprofile. A 9q deletion was found in 6 cases, a MYCN-MYCL amplification in 1 case, and a SUFU germline mutation in 1 case (/9). The presence of SUFU and PTCH1 germline mutations agreed with previous reports. At 3 years, progression-free survival and overallsurvival rates were 72 ± 15% and 85 ± 10%, respectively. The rate of recurrence was relatively high (4 patients). This may have been because chemotherapy was delayed in two cases. Age > 3 years, and residual tumor may also have been an explanation for recurrence.

Clinical, pathological, and molecular data on desmoplastic/nodular medulloblastoma: case studies and a review of the literature

PubMed Central

Siegfried, Aurore; Bertozzi, Anne Isabelle; Bourdeaut, Franck; Sevely, Annick; Loukh, Najat; Grison, Camille; Miquel, Catherine; Lafon, Delphine; Sevenet, Nicolas; Pietsch, Torsten; Dufour, Christelle; Delisle, Marie-Bernadette

2016-01-01

The aim of this study was to better define the clinical and biopathological features of patients with desmoplastic/nodular medulloblastoma (DNMB) and to further characterize this subgroup. 17 children aged < 5 years, with initial DNMB treated according to the HIT-SKK protocol, were evaluated. A retrospective central radiological review, a pathological and immunohistochemical study, and array-CGH and sequencing of germline SUFU and PTCH1 genes were performed. 15 histologically reviewed cases were confirmed as DNMB including three cases of medulloblastoma with extensive nodularity. Median age at diagnosis was 26 months. Radiology showed five cases with a vermis location and one with T2 hyperintensity. All cases showed a SHH immuno-profile. A 9q deletion was found in 6 cases, a MYCN–MYCL amplification in 1 case, and a SUFU germline mutation in 1 case (/9). The presence of SUFU and PTCH1 germline mutations agreed with previous reports. At 3 years, progression-free survival and overall-survival rates were 72 ± 15% and 85 ± 10%, respectively. The rate of recurrence was relatively high (4 patients). This may have been because chemotherapy was delayed in two cases. Age > 3 years, and residual tumor may also have been an explanation for recurrence. PMID:26857864

Histochemical stains as promising means for the laser histochemical surgery of a number of pathologies

NASA Astrophysics Data System (ADS)

Piruzyan, L. A.; Mikhailovskiy, Ye. M.; Piruzyan, A. L.

1999-12-01

The directions of laboratory and clinical studies oriented to experimental confirmation of the priority concept of `laser histochemical surgery' are presented. The goal of the studies is reproduction on experimental model of a number of pathologies (in vivo and in vitro) of the `sensitization to laser radiation by staining' effect. Testing of the histochemical stains as sensitizers to laser irradiation of their `address substrates', i.e. vitally stained intracellular structures which participate in the pathologic processes evolution is under planning. The processes include: (a) metabolic disorders in the brain cells, i.e. disseminated sclerosis; (b) generalized metabolic disorders- -mucopolysaccharidosis and collagenosises (periarteritis nodosa, rheumatism, rheumatoid arthritis, sclerodermia); (3) metabolic disorders in individual organs--vessel atherosclerosis, hypercholesterolemia, myocardial infarction, cardiosclerosis, caries and parodontosis. The conditions of the studies are detailed in the recommendations along the positions: (1) disease name; (2) disease characteristics: (a) pathomorphologic, (b) biochemical; (3) stains revealing the disease signs and recommended for testing; (4) `address substrates' of the stains that are targets for laser radiation; (5) lasers recommended for the testing after the cells staining in vivo in the corresponding pathology; (6) experimental models of the pathologies suggested for the testing; (7) criteria of the stain efficiency as target sensitizer to the laser light (criteria of the `laser sensitization by staining' efficiency). Possible perspectives for the experimental clinical medicine are indicated of common histochemical stains and lasers use and of practice introduction of the `laser histochemical surgery' in the case the described concept is confirmed in experiments and clinically.

Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics.

PubMed

Zuradelli, Monica; Peissel, Bernard; Manoukian, Siranoush; Zaffaroni, Daniela; Barile, Monica; Pensotti, Valeria; Cavallari, Ugo; Masci, Giovanna; Mariette, Frederique; Benski, Anne Caroline; Santoro, Armando; Radice, Paolo

2010-11-01

Double heterozygosity (DH) for BRCA1 and BRCA2 mutations is a very rare finding, particularly in non-Ashkenazi individuals, and only a few cases have been reported to date. In addition, little is known on the pathological features of the tumors that occur in DH cases and on their family history of cancer. Four carriers of pathogenic mutations in both BRCA1 and BRCA2 were identified among women who underwent genetic counseling for hereditary susceptibility to breast and ovarian carcinoma at three different Italian institutions. Clinical, pathological, and family history data were collected from medical records and during genetic counseling sessions. All identified DH cases developed breast carcinoma and three of them were also diagnosed with ovarian carcinoma. Mean ages of breast and ovarian cancer diagnosis were 42.7 and 48.6 years, respectively. The majority of breast cancers showed a BRCA1-related phenotype, being negative for hormone receptors and HER2. Two cases reported different gastrointestinal tumors among relatives. Although the individuals described in this study show more severe clinical features in comparison to previously reported BRCA1 and BRCA2 DH cases, our observations support the hypothesis of a non specific phenotype of DH cases in terms of age of disease onset. In addition, our observations indicate that in DH patients breast carcinogenesis appears to be driven mainly by the mutations in BRCA1. The possible association of DH for BRCA gene mutations with gastrointestinal tumors is in keeping with previous reports, but needs to be confirmed by further analyses.

Relapsing tumefactive lesion in an adult with medulloblastoma previously treated with chemoradiotherapy and stem cell transplant.

PubMed

Mahta, Ali; Qu, Yan; Nastic, Denis; Sundstrom, Maria; Kim, Ryan Y; Saria, Marlon; Santagata, Sandro; Kesari, Santosh

2012-04-01

Herein, we present an adult case of medulloblastoma who received chemotherapy, radiation therapy and stem cell transplantation, and underwent multiple surgical resections for what were thought to be recurrences; however pathology confirmed a diagnosis of relapsing tumefactive lesions. This phenomenon seems to be a consequence of stem cell transplantation rather than a simple radiation treatment effect.

Asymptomatic multinodular splenoma (splenic hamartoma) in a child with sickle cell anemia

PubMed Central

Elenga, Narcisse; Labbé, Sylvain; Leduc, Nicolas; Sika, Anicet; Cuadro, Emma; Long, Laurence; Njuieyon, Falucar; Kom-Tchameni, Rémi; Basset, Thierry

2017-01-01

Splenoma is a rare and benign malformation usually fortuitously diagnosed during imaging, surgery or, unfortunately, at autopsy. Although splenoma was first described in 1861, its association with hematological pathology is a very unusual condition in children. We report the case of an asymptomatic splenoma in an 8-year-old boy with sickle cell anemia, whose diagnosis was confirmed after conventional splenectomy. PMID:28744165

A slow progressor HIV-infected boy developing quadriplegia with evidence of Epstein-Barr virus associated smooth muscle tumour of the cervical spinal cord

PubMed Central

Wilaisakditipakorn, Tanaporn; Vilaisaktipakorn, Pitchamol; Bunupuradah, Torsak; Puthanakit, Thanyawee

2015-01-01

The authors report a case of slowly progressive HIV in an 11-year-old boy whose initial presenting AIDS-defining symptom was progressive quadriplegia with complete cord compression and pathological confirmation of Epstein-Barr virus associated smooth muscle tumour. Despite tumour removal, quadriplegia persisted as did ventilator dependence. PMID:26123466

An adult case of giant bronchogenic cyst mimicking tension pneumothorax.

PubMed

Yalcinkaya, Serhat; Vural, A Hakan; Ozal, Hasan

2010-10-01

Bronchogenic cysts are usually discovered only incidentally in the adult. A giant bronchogenic cyst in a 19-year-old woman presenting with pain and shortness of breath was mistaken for tension pneumothorax and initially treated with tube thoracostomy. Giant bullae were diagnosed by computed tomography. Bullae resection was undertaken, but the remaining lung tissue required pneumonectomy. Pathologic examination of the specimen confirmed bronchogenic cyst.

Mucoepidermoid carcinoma of lung masquerading as urothelial carcinoma of bladder

PubMed Central

Graham, Donna M.; O’Connor, Kate M.; Hinchion, John; Coate, Linda E.; Burke, Louise; Power, Derek G.

2013-01-01

Background Mucoepidermoid carcinoma (MEC) of the lung is a rare subtype of non-small cell lung cancer. There is no consensus regarding optimal management for this disease. Case report We present a case of MEC of the lung in a 75 year-old female with a history of superficial urothelial carcinoma of the bladder. The patient was found to have an asymptomatic lung mass. Initial biopsy suggested metastatic recurrence of urothelial carcinoma and therefore, cisplatin and gemcitabine chemotherapy was administered prior to surgical resection. Pathological analysis of the resected specimen confirmed a diagnosis of stage IIIA MEC with focal high-grade features including transitional cell-like areas. Adjuvant radiotherapy was administered due to a positive microscopic resection margin. No chemotherapy was given due to lack of supporting data. The patient developed widespread metastatic disease 3 months following completion of radiotherapy and died 1 month later. Conclusion This case demonstrates the possibility of dual pathology in cases where metastatic disease is suspected. The use of small tissue samples may complicate diagnosis due to the heterogeneity of malignant tumours. PMID:24936321

Imprint cytology on microcalcifications excised by vacuum-assisted breast biopsy: a rapid preliminary diagnosis.

PubMed

Fotou, Maria; Oikonomou, Vassiliki; Zagouri, Flora; Sergentanis, Theodoros N; Nonni, Afroditi; Athanassiadou, Pauline; Drouveli, Theodora; Atsouris, Efstratios; Kotzia, Evagelia; Zografos, George C

2007-04-03

To evaluate imprint cytology in the context of specimens with microcalcifications derived from Vacuum-Assisted Breast Biopsy (VABB). A total of 93 women with microcalcifications BI-RADS 3 and 4 underwent VABB and imprint samples were examined. VABB was performed on Fischer's table using 11-gauge Mammotome vacuum probes. A mammogram of the cores after the procedure confirmed the excision of microcalcifications. For the application of imprint cytology, the cores with microcalcifications confirmed by mammogram were gently rolled against glass microscope slides and thus imprint smears were made. For rapid preliminary diagnosis Diff-Quick stain, modified Papanicolaou stain and May Grunwald Giemsa were used. Afterwards, the core was dipped into a CytoRich Red Collection fluid for a few seconds in order to obtain samples with the use of the specimen wash. After the completion of cytological procedures, the core was prepared for routine histological study. The pathologist was blind to the preliminary cytological results. The cytological and pathological diagnoses were comparatively evaluated. According to the pathological examination, 73 lesions were benign, 15 lesions were carcinomas (12 ductal carcinomas in situ, 3 invasive ductal carcinomas), and 5 lesions were precursor: 3 cases of atypical ductal hyperplasia (ADH) and 2 cases of lobular neoplasia (LN). The observed sensitivity and specificity of the cytological imprints for cancer were 100% (one-sided, 97.5% CI: 78.2%-100%). Only one case of ADH could be detected by imprint cytology. Neither of the two LN cases was detected by the imprints. The imprints were uninformative in 11 out of 93 cases (11.8%). There was no uninformative case among women with malignancy. Imprint cytology provides a rapid, accurate preliminary diagnosis in a few minutes. This method might contribute to the diagnosis of early breast cancer and possibly attenuates patients' anxiety.

Fluorescence-guided resection with 5-aminolevulinic Acid of subependymomas of the fourth ventricle: report of 2 cases: technical case report.

PubMed

Bernal García, Luis Miguel; Cabezudo Artero, José Manuel; Marcelo Zamorano, María Bella; Gilete Tejero, Ignacio

2015-06-01

The usefulness of 5-aminolevulinic acid (5-ALA) for resection of malignant astrocytomas has been established in recent years. In addition to these tumors, it has been reported that 5-ALA fluorescence could be elicited in other tumors such as intracranial and spinal meningiomas or posterior fossa and spinal cord ependymomas, resulting in improved resections. Here, we present 2 cases of subependymomas of the fourth ventricle that showed intense fluorescence after 5-ALA administration. To the best of our knowledge, these are the first reported cases of subependymomas in this location in which 5-ALA elicited useful fluorescence. Case 1 was a 61-year-old woman with a history of headaches accompanied by vomiting in the last month. Magnetic resonance imaging (MRI) revealed a tumor occupying the fourth ventricle with slight irregular enhancement. She was operated on after administration of 5-ALA. The tumor emitted intense red fluorescence when illuminated with blue light. An MRI performed 48 hours after surgery confirmed complete resection of the tumor. The pathological diagnosis was subependymoma. Case 2 was a 35-year-old man with a history of several months of headaches and vomiting. An MRI revealed a tumor occupying the caudal part of the fourth ventricle with moderate and irregular enhancement. He was operated on after administration of 5-ALA. The tumor showed intense fluorescence. An MRI performed 48 hours after surgery confirmed a complete resection of the tumor. The pathological diagnosis was subependymoma. Fluorescence-guided resection with 5-ALA may be useful for resection of subependymomas of the fourth ventricle. However, further studies are needed.

The clinical use of a P63/cytokeratin7/18/cytokeratin5/14 antibody cocktail in diagnostic breast pathology.

PubMed

Reisenbichler, Emily S; Ross, John R; Hameed, Omar

2014-12-01

An antibody cocktail directed against p63, cytokeratin (CK)5/14, and CK7/18 is reported to be useful in distinguishing noninvasive from invasive breast lesions and for the characterization of intraductal epithelial proliferations. However, limited studies evaluate its use in clinical practice. A retrospective review of breast material at a university medical center identified cases that were immunostained with the above antibody cocktail. Additional p63 immunostaining alone was performed to further determine the utility of the antibody cocktail in the evaluation of invasion. Of 50 breast cases identified, the antibody cocktail was used to confirm or exclude invasion in 44 (88%). Twenty-two (50%) of these had easily identifiable p63/CK5/14-positive myoepithelial cells, whereas the remainder lacked such staining, confirming the diagnosis of invasive carcinoma. In 27 cases with available diagnostic material for additional p63 immunostaining, the cocktail better highlighted myoepithelial cells by staining nuclei and cytoplasm. Easier identification of invasion was also facilitated by CK7/18 expression in invasive foci, especially those composed of single cells. Ten cases were immunostained to help determine the nature of an intraductal proliferation. The cocktail demonstrated a mosaic staining pattern of both CK7/18- and CK5/14-positive epithelial cells in 3 (30%) cases consistent with usual hyperplasia; homogenous CK7/18 expression in the remaining cases supported the diagnosis of atypical ductal hyperplasia or carcinoma in situ. In summary, the p63/CK7/18/CK5/14 cocktail stain appears to be a useful tool in diagnostic breast pathology, in the evaluation of possible invasion, particularly in the setting of minute foci of invasion as well as in epithelial proliferations. Copyright © 2014 Elsevier Inc. All rights reserved.

Cutting needle biopsy combined with immunohistochemical study of myeloperoxidase for the diagnosis of histiocytic necrotizing lymphadenitis.

PubMed

Hanakawa, Hiroyuki; Orita, Yorihisa; Sato, Yasuharu; Takeuchi, Mai; Ohno, Kyotaro; Iwaki, Noriko; Ito, Toshihiro; Nishizaki, Kazunori; Yoshino, Tadashi

2013-12-01

Cutting needle biopsy (CNB) combined with immunohistochemical study of myeloperoxidase (MPO) is a useful minimally invasive diagnostic procedure for histiocytic necrotizing lymphadenitis (HNL). HNL is mainly diagnosed by pathological findings of open surgical biopsy (OSB) specimens. Recently the appearance of anti-MPO positive histiocytes has been reported as a highly specific pathological diagnosis for HNL. Considering the cosmetic impact and burden on the patients, we performed CNB combined with immunohistochemical study of MPO for the diagnosis of HNL. Few studies have reported the utility of this method in the diagnosis of HNL. A retrospective study was conducted using clinical data from 20 HNL patients. CNB was performed in 8 patients and OSB in 13 (OSB after CNB in 1). MPO-positive histiocytes were observed in all of the 20 cases. The accuracy of the diagnoses was finally confirmed by the clinical courses in all cases.

Anaesthesia-related haemodynamic complications in Williams syndrome patients: a review of one institution's experience.

PubMed

Olsen, M; Fahy, C J; Costi, D A; Kelly, A J; Burgoyne, L L

2014-09-01

Williams syndrome is a genetic disorder associated with cardiac pathology, including supravalvular aortic stenosis and coronary artery stenosis. Sudden cardiac death has been reported in the perioperative period and attributed to cardiovascular pathology. In this retrospective audit, case note and anaesthetic records were reviewed for all confirmed Williams syndrome patients who had received an anaesthetic in our institution between July 1974 and November 2009. There were a total of 108 anaesthetics administered in 29 patients. Twelve of the anaesthetics (11.1%) were associated with cardiac complications including cardiac arrest in two cases (1.85%). Of the two cardiac arrests, one patient died within the first 24 hours postanaesthetic and the other patient survived, giving an overall mortality of 0.9% (3.4%). We conclude that Williams syndrome confers a significant anaesthetic risk, which should be recognised and considered by clinicians planning procedures requiring general anaesthesia.

Duodenal Bulb Adenocarcinoma Benefitted from Neoadjuvant Chemotherapy: A Case Report.

PubMed

Zhang, Geng-Yuan; Mao, Jie; Zhao, Bin; Long, Bo; Zhan, Hao; Zhang, Jun-Qiang; Zhou, Hui-Nian; Guo, Ling-Yun; Jiao, Zuo-Yi

2017-01-01

Duodenal bulb adenocarcinoma is an extremely rare malignancy in the alimentary tract which has a low incidence rate and nonspecific symptoms. It is difficult to diagnose early, and the misdiagnosis rate is high. CT, MRI, upper gastrointestinal endoscopy, and other advanced imaging modalities should be combined to make a comprehensive evaluation. The diagnostic confirmation of this tumor type mainly depends on the pathological examination. The combination of surgery with other treatment modalities is effective. A review of reports on duodenal bulb adenocarcinoma with chemotherapy revealed 6 cases since 1990. However, there are few reports on neoadjuvant chemotherapy for the disease. In this report, preoperative S-1 in combination with oxaliplatin neoadjuvant chemotherapy achieved a complete pathological response in the treatment of duodenal bulb adenocarcinoma. Neoadjuvant chemotherapy shows a better clinical efficacy in the treatment of duodenal bulb adenocarcinoma, but its value needs to be further verified. © 2017 S. Karger AG, Basel.

Cavernous sinus tuberculoma mimicking a neoplasm: Case report, literature review, and diagnostic and treatment suggestions for tuberculomas in rare locations

PubMed Central

Jaimovich, Sebastián G.; Thea, Victor Castillo; Guevara, Martin; Gardella, Javier L.

2013-01-01

Background: Cavernous sinus tuberculomas are extremely rare, but the increasing incidence worldwide of central nervous system (CNS) tuberculosis, mostly due to human immunodeficiency virus and poor sanitary conditions, and the ability of tuberculomas to mimic a brain neoplasm makes cavernous sinus tuberculomas a suspicious pathologic finding in the differential diagnosis of a brain space-occupying lesion. Case Description: We present an immunocompetent patient with no signs of systemic tuberculosis and an isolated right cavernous sinus space-occupying lesion. A skull base approach was performed and tumor resection achieved. The postoperative course was uneventful. Pathologic findings consisted of a tuberculoma and antituberculous treatment was immediately begun with total tumor regression after a 12-month regimen. After reviewing the literature, we propose suggestions to orient the diagnosis and a treatment algorithm for tuberculomas in rare locations. Conclusion: Tuberculomas in rare locations, as the cavernous sinus, are a challenging pathology as they have the ability to mimic a brain neoplasm. Although first line treatment are antituberculous therapy (4 drugs for at least 12 months) and adjuvant steroids, in inconclusive cases, surgical biopsy or excision is recommended for histopathologic confirmation and to reduce the mass effect, always following with antituberculous therapy and adjuvant steroids. PMID:24381801

Primary intestinal lymphangiectasia diagnosed by double-balloon enteroscopy and treated by medium-chain triglycerides: a case report

PubMed Central

2013-01-01

Introduction Primary intestinal lymphangiectasia is a disorder characterized by exudative enteropathy resulting from morphologic abnormalities of the intestinal lymphatics. Intestinal lymphangiectasia can be primary or secondary, so the diagnosis of primary intestinal lymphangiectasia must first exclude the possibility of secondary intestinal lymphangiectasia. A double-balloon enteroscopy and biopsy, as well as the pathology can be used to confirm the diagnosis of intestinal lymphangiectasia. A polymeric diet containing medium-chain triglycerides and total parenteral nutrition may be a useful therapy. Case presentation A 17-year-old girl of Mongoloid ethnicity was admitted to our hospital with a history of diarrhea and edema. She was diagnosed with protein-losing enteropathy caused by intestinal lymphangiectasia. This was confirmed by a double-balloon enteroscopy and multi-dot biopsy. After treatment with total parenteral nutrition in hospital, which was followed by a low-fat and medium-chain triglyceride diet at home, she was totally relieved of her symptoms. Conclusion Intestinal lymphangiectasia can be diagnosed with a double-balloon enteroscopy and multi-dot biopsy, as well as the pathology of small intestinal tissue showing edema of the submucosa and lymphangiectasia. Because intestinal lymphangiectasia can be primary or secondary, the diagnosis of primary intestinal lymphangiectasia must first exclude the possibility of secondary intestinal lymphangiectasia. A positive clinical response to the special diet therapy, namely a low-fat and medium-chain triglyceride diet, can further confirm the diagnosis of primary intestinal lymphangiectasia. PMID:23316917

Uncommon Presentation of Triploidy: A Case Report

PubMed Central

Pata, Özlem; Unlu, Cihat; Tokat, Fatma; Ozdemir, Mucize

2015-01-01

A 28-year-old woman presented in her first pregnancy was admitted with severe hyperemesis gravidarium. Increased nuchal translucency with cardiac anomaly and omphalocele at the first trimester was observed at the ultrasound examination. Chorionic villus biopsy confirmed triploidy. The combination of type I and type II triploidy patterns were seen together in the second trimester of the pregnancy. Although the symptoms due to increased human chorionic levels occured, at the pathologic investigation there were no molar changes in the placenta. Here we report a case of uncommon presentation of triploidy. PMID:26557571

Radiologic-pathologic findings of solitary fibrous tumor of the prostate presenting as a large mass with delayed filling-in on MRI.

PubMed

Bhargava, Puneet; Lee, Jean Hwa; Gupta, Saurabh; Seyal, Adeel Rahim; Vakar-Lopez, Funda; Moshiri, Mariam; Dighe, Manjiri Kiran

2012-01-01

We report a case of a solitary fibrous tumor of prostate presenting with urinary retention and a large prostate mass. We describe the clinical presentation, magnetic resonance imaging findings, and histopathology of this rare, benign tumor. Although clinical and radiologic appearances embrace various differential diagnoses including sarcoma, this mass was confirmed by histologic analysis following surgical resection. We report this rare, benign tumor to help the radiologist suggest the diagnosis when presented with a similar case.

Hypochondriasis as an early manifestation of dementia with Lewy bodies: an autopsied case report.

PubMed

Fujishiro, Hiroshige; Iritani, Shuji; Sekiguchi, Hirotaka; Habuchi, Chikako; Torii, Youta; Matsunaga, Shinji; Ozaki, Norio; Yoshida, Mari; Fujita, Kiyoshi

2016-03-01

Discrepancies between clinical and pathological diagnoses of dementia with Lewy bodies (DLB) may occur because the full disease progression remains unclear, especially during the early stage. Herein, we report the case of a 78-year-old Japanese man with hypochondriasis who had autopsy-confirmed limbic-type DLB pathology. He exhibited no core clinical features of DLB. We attempted to identify the clinicopathological correlations in the early stages of DLB. At the age of 77, he became hypochondriacal and exhibited progressive cognitive decline after the death of his wife. He was concerned about his poor physical condition, but hospital examinations did not identify any overtly abnormal findings. At 78 years of age, he consulted a neurologist with complaints of facial numbness and irritability. Neurological examination revealed no overt abnormality, and he scored 21 points on the Mini-Mental State Examination. Magnetic resonance imaging of the brain showed mild bilateral ventricular enlargement. The patient was clinically diagnosed as having possible Alzheimer's disease. Approximately 1 month after his consult, he died of acute pneumonia in a psychiatric hospital to which he had been admitted for severe aggressive behaviour. He exhibited no core clinical features pointing towards a clinical diagnosis of DLB. Neuropathological investigation revealed limbic-type Lewy body disease with concurrent minimum Alzheimer-type pathology, which corresponds to high-likelihood DLB pathology based on the Third Consortium DLB pathological criteria. The patient had minimum nigral degeneration, which is consistent with the absence of parkinsonism. This autopsied case suggests that some DLB patients exhibit hypochondriasis in the early stage of the disease, even if they lack the core clinical features of DLB. © 2015 The Authors. Psychogeriatrics © 2015 Japanese Psychogeriatric Society.

Validation of Case Finding Algorithms for Hepatocellular Cancer from Administrative Data and Electronic Health Records using Natural Language Processing

PubMed Central

Sada, Yvonne; Hou, Jason; Richardson, Peter; El-Serag, Hashem; Davila, Jessica

2013-01-01

Background Accurate identification of hepatocellular cancer (HCC) cases from automated data is needed for efficient and valid quality improvement initiatives and research. We validated HCC ICD-9 codes, and evaluated whether natural language processing (NLP) by the Automated Retrieval Console (ARC) for document classification improves HCC identification. Methods We identified a cohort of patients with ICD-9 codes for HCC during 2005–2010 from Veterans Affairs administrative data. Pathology and radiology reports were reviewed to confirm HCC. The positive predictive value (PPV), sensitivity, and specificity of ICD-9 codes were calculated. A split validation study of pathology and radiology reports was performed to develop and validate ARC algorithms. Reports were manually classified as diagnostic of HCC or not. ARC generated document classification algorithms using the Clinical Text Analysis and Knowledge Extraction System. ARC performance was compared to manual classification. PPV, sensitivity, and specificity of ARC were calculated. Results 1138 patients with HCC were identified by ICD-9 codes. Based on manual review, 773 had HCC. The HCC ICD-9 code algorithm had a PPV of 0.67, sensitivity of 0.95, and specificity of 0.93. For a random subset of 619 patients, we identified 471 pathology reports for 323 patients and 943 radiology reports for 557 patients. The pathology ARC algorithm had PPV of 0.96, sensitivity of 0.96, and specificity of 0.97. The radiology ARC algorithm had PPV of 0.75, sensitivity of 0.94, and specificity of 0.68. Conclusion A combined approach of ICD-9 codes and NLP of pathology and radiology reports improves HCC case identification in automated data. PMID:23929403

Validation of Case Finding Algorithms for Hepatocellular Cancer From Administrative Data and Electronic Health Records Using Natural Language Processing.

PubMed

Sada, Yvonne; Hou, Jason; Richardson, Peter; El-Serag, Hashem; Davila, Jessica

2016-02-01

Accurate identification of hepatocellular cancer (HCC) cases from automated data is needed for efficient and valid quality improvement initiatives and research. We validated HCC International Classification of Diseases, 9th Revision (ICD-9) codes, and evaluated whether natural language processing by the Automated Retrieval Console (ARC) for document classification improves HCC identification. We identified a cohort of patients with ICD-9 codes for HCC during 2005-2010 from Veterans Affairs administrative data. Pathology and radiology reports were reviewed to confirm HCC. The positive predictive value (PPV), sensitivity, and specificity of ICD-9 codes were calculated. A split validation study of pathology and radiology reports was performed to develop and validate ARC algorithms. Reports were manually classified as diagnostic of HCC or not. ARC generated document classification algorithms using the Clinical Text Analysis and Knowledge Extraction System. ARC performance was compared with manual classification. PPV, sensitivity, and specificity of ARC were calculated. A total of 1138 patients with HCC were identified by ICD-9 codes. On the basis of manual review, 773 had HCC. The HCC ICD-9 code algorithm had a PPV of 0.67, sensitivity of 0.95, and specificity of 0.93. For a random subset of 619 patients, we identified 471 pathology reports for 323 patients and 943 radiology reports for 557 patients. The pathology ARC algorithm had PPV of 0.96, sensitivity of 0.96, and specificity of 0.97. The radiology ARC algorithm had PPV of 0.75, sensitivity of 0.94, and specificity of 0.68. A combined approach of ICD-9 codes and natural language processing of pathology and radiology reports improves HCC case identification in automated data.

A case of pulmonary and hepatic cystic Echinococcosis of CE1 stage in a healthy Japanese female that was suspected to have been acquired during her stay in the United Kingdom.

PubMed

Nakamura, Kiwamu; Ito, Akira; Yara, Satomi; Haranaga, Shusaku; Hibiya, Kenji; Hirayasu, Tsuneo; Sako, Yasuhito; Fujita, Jiro

2011-09-01

We herein report a case of a young Japanese female who was confirmed to have cystic echinococcosis (CE) 1 stage based on the World Health Organization Informal Working Group on Echinococcosis pathological classification of CE, and she was also suspected to be infected with eggs of the G1 Echinococcus granulosus sensu stricto during her stay in the United Kingdom and therefore, suffered from synchronous pulmonary and hepatic CE. Oral albendazole was administered initially, but rupture of a lung hydatid cyst was observed. To avoid additional rupture, we performed two surgeries. CE is very rare in Japan; all CE cases in Japan during the past two decades have been confirmed to be imported, and almost all cases are hepatic CE. This case is the first case report of a Japanese patient who had concomitant giant lung and liver CE with early-stage CE1 and was successfully treated by surgery and pharmacotherapy with a serological follow-up.

Primary intestinal lymphangiectasia diagnosed by capsule endoscopy and double balloon enteroscopy

PubMed Central

Oh, Tak Geun; Chung, Joo Won; Kim, Hee Man; Han, Seok-Joo; Lee, Jin Sung; Park, Jung Yeob; Song, Si Young

2011-01-01

Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lymphatics and the development of protein-losing enteropathy. Patients with PIL develop hypoalbuminemia, hypocalcemia, lymphopenia and hypogammaglobulinemia, and present with bilateral lower limb edema, fatigue, abdominal pain and diarrhea. Endoscopy reveals diffusely elongated, circumferential and polypoid mucosae covered with whitish enlarged villi, all of which indicate intestinal lymphangiectasia. Diagnosis is confirmed by characteristic tissue pathology, which includes dilated intestinal lymphatics with diffusely swollen mucosa and enlarged villi. The prevalence of PIL has increased since the introduction of capsule endoscopy. The etiology and prevalence of PIL remain unknown. Some studies have reported that several genes and regulatory molecules for lymphangiogenesis are related to PIL. We report the case of a patient with PIL involving the entire small bowel that was confirmed by capsule endoscopy and double-balloon enteroscopy-guided tissue pathology who carried a deletion on chromosome 4q25. The relationship between this deletion on chromosome 4 and PIL remains to be investigated. PMID:22110841

Multiple Schwannomas of the Spine: Review of the Schwannomatosis or Congenital Neurilemmomatosis: A Case Report.

PubMed

Lee, Sang-Hoon; Kim, Se-Hoon; Kim, Bum-Joon; Lim, Dong-Jun

2015-06-01

Schwannomas are the most common benign nerve sheath tumors originating in Schwann cells. With special conditions like neurofibromatosis type 2 or entity called schwannomatosis, patients develop multiple schwannomas. But in clinical setting, distinguishing schwannomatosis from neurofibromatosis type 2 is challengeable. We describe 58-year-old male who presented with severe neuropathic pain, from schwannomatosis featuring multiple schwannomas of spine and trunk, and underwent surgical treatment. We demonstrate his radiologic and clinical findings, and discuss about important clinical features of this condition. To confirm schwannomatosis, we performed brain magnetic resonance imaging, and took his familial history. Staged surgery was done for pathological confirmation and relief of the pain. Schwannomatosis and neurofibromatosis type 2 are similar but different disease. There are diagnostic hallmarks of these conditions, including familial history, pathology, and brain imaging. Because of different prognosis, the two diseases must be distinguished, so diagnostic tests that are mentioned above should be performed in caution.

Multiple Schwannomas of the Spine: Review of the Schwannomatosis or Congenital Neurilemmomatosis: A Case Report

PubMed Central

Lee, Sang-Hoon; Kim, Bum-Joon; Lim, Dong-Jun

2015-01-01

Schwannomas are the most common benign nerve sheath tumors originating in Schwann cells. With special conditions like neurofibromatosis type 2 or entity called schwannomatosis, patients develop multiple schwannomas. But in clinical setting, distinguishing schwannomatosis from neurofibromatosis type 2 is challengeable. We describe 58-year-old male who presented with severe neuropathic pain, from schwannomatosis featuring multiple schwannomas of spine and trunk, and underwent surgical treatment. We demonstrate his radiologic and clinical findings, and discuss about important clinical features of this condition. To confirm schwannomatosis, we performed brain magnetic resonance imaging, and took his familial history. Staged surgery was done for pathological confirmation and relief of the pain. Schwannomatosis and neurofibromatosis type 2 are similar but different disease. There are diagnostic hallmarks of these conditions, including familial history, pathology, and brain imaging. Because of different prognosis, the two diseases must be distinguished, so diagnostic tests that are mentioned above should be performed in caution. PMID:26217390

Hippocampal sclerosis in advanced age: clinical and pathological features.

PubMed

Nelson, Peter T; Schmitt, Frederick A; Lin, Yushun; Abner, Erin L; Jicha, Gregory A; Patel, Ela; Thomason, Paula C; Neltner, Janna H; Smith, Charles D; Santacruz, Karen S; Sonnen, Joshua A; Poon, Leonard W; Gearing, Marla; Green, Robert C; Woodard, John L; Van Eldik, Linda J; Kryscio, Richard J

2011-05-01

Hippocampal sclerosis is a relatively common neuropathological finding (∼10% of individuals over the age of 85 years) characterized by cell loss and gliosis in the hippocampus that is not explained by Alzheimer's disease. Hippocampal sclerosis pathology can be associated with different underlying causes, and we refer to hippocampal sclerosis in the aged brain as hippocampal sclerosis associated with ageing. Much remains unknown about hippocampal sclerosis associated with ageing. We combined three different large autopsy cohorts: University of Kentucky Alzheimer's Disease Centre, the Nun Study and the Georgia Centenarian Study to obtain a pool of 1110 patients, all of whom were evaluated neuropathologically at the University of Kentucky. We focused on the subset of cases with neuropathology-confirmed hippocampal sclerosis (n=106). For individuals aged≥95 years at death (n=179 in our sample), each year of life beyond the age of 95 years correlated with increased prevalence of hippocampal sclerosis pathology and decreased prevalence of 'definite' Alzheimer's disease pathology. Aberrant TAR DNA protein 43 immunohistochemistry was seen in 89.9% of hippocampal sclerosis positive patients compared with 9.7% of hippocampal sclerosis negative patients. TAR DNA protein 43 immunohistochemistry can be used to demonstrate that the disease is usually bilateral even when hippocampal sclerosis pathology is not obvious by haematoxylin and eosin stains. TAR DNA protein 43 immunohistochemistry was negative on brain sections from younger individuals (n=10) after hippocampectomy due to seizures, who had pathologically confirmed hippocampal sclerosis. There was no association between cases with hippocampal sclerosis associated with ageing and apolipoprotein E genotype. Age of death and clinical features of hippocampal sclerosis associated with ageing (with or without aberrant TAR DNA protein 43) were distinct from previously published cases of frontotemporal lobar degeneration TAR DNA protein 43. To help sharpen our ability to discriminate patients with hippocampal sclerosis associated with ageing clinically, the longitudinal cognitive profile of 43 patients with hippocampal sclerosis associated with ageing was compared with the profiles of 75 controls matched for age, gender, education level and apolipoprotein E genotype. These individuals were followed from intake assessment, with 8.2 (average) longitudinal cognitive assessments. A neuropsychological profile with relatively high-verbal fluency but low word list recall distinguished the hippocampal sclerosis associated with ageing group at intake (P<0.015) and also 5.5-6.5 years before death (P<0.005). This may provide a first step in clinical differentiation of hippocampal sclerosis associated with ageing versus pure Alzheimer's disease in their earliest stages. In summary, in the largest series of autopsy-verified patients with hippocampal sclerosis to date, we characterized the clinical and pathological features associated with hippocampal sclerosis associated with ageing.

Hippocampal sclerosis in advanced age: clinical and pathological features

PubMed Central

Schmitt, Frederick A.; Lin, Yushun; Abner, Erin L.; Jicha, Gregory A.; Patel, Ela; Thomason, Paula C.; Neltner, Janna H.; Smith, Charles D.; Santacruz, Karen S.; Sonnen, Joshua A.; Poon, Leonard W.; Gearing, Marla; Green, Robert C.; Woodard, John L.; Van Eldik, Linda J.; Kryscio, Richard J.

2011-01-01

Hippocampal sclerosis is a relatively common neuropathological finding (∼10% of individuals over the age of 85 years) characterized by cell loss and gliosis in the hippocampus that is not explained by Alzheimer’s disease. Hippocampal sclerosis pathology can be associated with different underlying causes, and we refer to hippocampal sclerosis in the aged brain as hippocampal sclerosis associated with ageing. Much remains unknown about hippocampal sclerosis associated with ageing. We combined three different large autopsy cohorts: University of Kentucky Alzheimer’s Disease Centre, the Nun Study and the Georgia Centenarian Study to obtain a pool of 1110 patients, all of whom were evaluated neuropathologically at the University of Kentucky. We focused on the subset of cases with neuropathology-confirmed hippocampal sclerosis (n = 106). For individuals aged ≥95 years at death (n = 179 in our sample), each year of life beyond the age of 95 years correlated with increased prevalence of hippocampal sclerosis pathology and decreased prevalence of ‘definite’ Alzheimer’s disease pathology. Aberrant TAR DNA protein 43 immunohistochemistry was seen in 89.9% of hippocampal sclerosis positive patients compared with 9.7% of hippocampal sclerosis negative patients. TAR DNA protein 43 immunohistochemistry can be used to demonstrate that the disease is usually bilateral even when hippocampal sclerosis pathology is not obvious by haematoxylin and eosin stains. TAR DNA protein 43 immunohistochemistry was negative on brain sections from younger individuals (n = 10) after hippocampectomy due to seizures, who had pathologically confirmed hippocampal sclerosis. There was no association between cases with hippocampal sclerosis associated with ageing and apolipoprotein E genotype. Age of death and clinical features of hippocampal sclerosis associated with ageing (with or without aberrant TAR DNA protein 43) were distinct from previously published cases of frontotemporal lobar degeneration TAR DNA protein 43. To help sharpen our ability to discriminate patients with hippocampal sclerosis associated with ageing clinically, the longitudinal cognitive profile of 43 patients with hippocampal sclerosis associated with ageing was compared with the profiles of 75 controls matched for age, gender, education level and apolipoprotein E genotype. These individuals were followed from intake assessment, with 8.2 (average) longitudinal cognitive assessments. A neuropsychological profile with relatively high-verbal fluency but low word list recall distinguished the hippocampal sclerosis associated with ageing group at intake (P < 0.015) and also 5.5–6.5 years before death (P < 0.005). This may provide a first step in clinical differentiation of hippocampal sclerosis associated with ageing versus pure Alzheimer’s disease in their earliest stages. In summary, in the largest series of autopsy-verified patients with hippocampal sclerosis to date, we characterized the clinical and pathological features associated with hippocampal sclerosis associated with ageing. PMID:21596774

Pulmonary asbestosis: radiologic-pathologic brief report.

PubMed

Ahn, C S; Kim, S J; Oh, S J; Park, K J; Kim, H J; Ahn, C M; Kim, H K; Shin, D H; Cho, S H; Yang, K M

1997-10-01

Pulmonary asbestosis is defined as bilateral diffuse interstitial fibrosis of the lungs caused by exposure to asbestos. Many occupations are at risk for asbestos exposure, particularly in the mining, milling, manufacturing, construction, shipbuilding, and automotive industries. Therefore, the prevalence of asbestosis should be fairly widespread. The diagnosis of asbestosis can be made on either clinical or pathological grounds. We recently encountered one case of asbestosis which was confirmed histologically. On HRCT, there was ground-glass opacity with irregular linear shadows, subpleural curvilinear lines and parenchymal bands. Neither plaque nor calcification were noted. The histologic findings observed on open-lung biopsy specimen were well in accord with those in HRCT. Many asbestos-coated bodies were present along with black dust.

CT Accuracy of Extrinsic Tongue Muscle Invasion in Oral Cavity Cancer.

PubMed

Junn, J C; Baugnon, K L; Lacayo, E A; Hudgins, P A; Patel, M R; Magliocca, K R; Corey, A S; El-Deiry, M; Wadsworth, J T; Beitler, J J; Saba, N F; Liu, Y; Aiken, A H

2017-02-01

Extrinsic tongue muscle invasion in oral cavity cancer upstages the primary tumor to a T4a. Despite this American Joint Committee on Cancer staging criterion, no studies have investigated the accuracy or prognostic importance of radiologic extrinsic tongue muscle invasion, the feasibility of standardizing extrinsic tongue muscle invasion reporting, or the degree of agreement across different disciplines: radiology, surgery, and pathology. The purpose of this study was to assess the agreement among radiology, surgery, and pathology for extrinsic tongue muscle invasion and to determine the imaging features most predictive of extrinsic tongue muscle invasion with surgical/pathologic confirmation. Thirty-three patients with untreated primary oral cavity cancer were included. Two head and neck radiologists, 3 otolaryngologists, and 1 pathologist prospectively evaluated extrinsic tongue muscle invasion. Fourteen of 33 patients had radiologic extrinsic tongue muscle invasion; however, only 8 extrinsic tongue muscle invasions were confirmed intraoperatively. Pathologists were unable to determine extrinsic tongue muscle invasion in post-formalin-fixed samples. Radiologic extrinsic tongue muscle invasion had 100% sensitivity, 76% specificity, 57% positive predictive value, and 100% negative predictive value with concurrent surgical-pathologic evaluation of extrinsic tongue muscle invasion as the criterion standard. On further evaluation, the imaging characteristic most consistent with surgical-pathologic evaluation positive for extrinsic tongue muscle invasion was masslike enhancement. Evaluation of extrinsic tongue muscle invasion is a subjective finding for all 3 disciplines. For radiology, masslike enhancement of extrinsic tongue muscle invasion most consistently corresponded to concurrent surgery/pathology evaluation positive for extrinsic tongue muscle invasion. Intraoperative surgical and pathologic evaluation should be encouraged to verify radiologic extrinsic tongue muscle invasion to minimize unnecessary upstaging. Because this process is not routine, imaging can add value by identifying those cases most suspicious for extrinsic tongue muscle invasion, thereby prompting this more detailed evaluation by surgeons and pathologists. © 2017 by American Journal of Neuroradiology.

Sodium Fluorescein-Guided Resection under the YELLOW 560 nm Surgical Microscope Filter in Malignant Gliomas: Our First 38 Cases Experience

PubMed Central

Tian, Hailong; Huang, Dezhang; Meng, Xianbing; Guo, Wenqiang; Wang, Chaochao; Yin, Xin; Zhang, Hongying; Jiang, Bin; He, Zheng

2017-01-01

Objective Sodium fluorescein (FL) had been safely used in fluorescence-guided microsurgery for imaging various brain tumors. Under the YELLOW 560 nm surgical microscope filter, low-dose FL as a fluorescent dye helps in visualization. Our study investigated the safety and efficacy of this innovative technique in malignant glioma (MG) patients. Patients and Method 38 patients suffering from MGs confirmed by pathology underwent FL-guided resection under YELLOW 560 nm surgical microscope filter. We retrospectively analyzed the clinical characters, microsurgery procedure, extent of resection, pathology of MGs, progression-free survival (PFS), and overall survival (OS). Results Thirty-eight patients had MGs (10 WHO grade III, 28 WHO grade IV). With YELLOW 560 nm surgical microscope filter combined with neuronavigation, sodium fluorescein-guided gross total resection (GTR) was achieved in 35 (92.1%) patients and subtotal resection in 3 (7.69%). The sensitivity and specificity of FL were 94.4% and 88.6% regardless of radiographic localization. Intraoperatively, 10 biopsies (10/28 FL[+]) showed “low” or “high” fluorescence in non-contrast-enhancement region and are also confirmed by pathology. Our data showed 6-month PFS of 92.3% and median survival of 11 months. Conclusion FL-guided resection of MGs under the YELLOW 560 nm surgical microscope filter combined with neuronavigation was safe and effective, especially in non-contrast-MRI regions. It is feasible for improving the extent of resection in MGs especially during emergency cases. PMID:29124069

[Eosinophilic esophagitis, a pathology on the rise].

PubMed

Miranda García, M; Gutiérrez Teira, B

2013-10-01

The eosinophilic esofagitis is a pathology that consists of an inflammatory condition of the esophagus, which is characterized for having a high percentage of eosinophils. It is a problem of allergic origin and his diagnosis is increasing in the population, especially in children and adult young persons, throughout last decade. The fisiopathology is not completely established nowadays. The diagnosis is confirmed with endoscopia and capture of biopsies. The differential diagnosis is necessary to be done with the disease for reflux gastroesofágico, gastroenteritis eosinofílica, by Crohn's disease, pathology of connective fabric, syndrome hipereosinofílico, infections and response of hypersensitivity to medicaments. Nowadays there is no a treatment that is definitive. We present a clinical case, which was valued initially for the consultation of Primary care. Copyright © 2011 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

Lyme Carditis: A Case Involving the Conduction System and Mitral Valve.

PubMed

Patel, Lakir D; Schachne, Jay S

2017-02-01

Lyme disease is the most common tick-borne infection in the Northern hemisphere. Cardiac manifestations of Lyme disease typically include variable atrioventricular nodal block and rarely structural heart pathology. The incidence of Lyme carditis may be underestimated based on current reporting practices of confirmed cases. This case of a 59-year-old man with Lyme carditis demonstrates the unique presentation of widespread conduction system disease, mitral regurgitation, and suspected ischemic disease. Through clinical data, electrocardiograms, and cardiac imaging, we show the progression, and resolution, of a variety of cardiac symptoms attributable to infection with Lyme. [Full article available at http://rimed.org/rimedicaljournal-2017-02.asp].

Non-pathological complete paternal uniparental isodisomy of chromosome 2 revealed in a maternity testing case.

PubMed

Chen, Man; Jiang, Jian; Li, Chen; Ren, He; Chen, Wei; Liu, Zhiyong; Cheng, Feng; Zhao, Jing; Chen, Tong; Chen, Chuguang; Yan, Jiangwei

2018-05-25

We present a duo paternity test case to assess the biological relationship between a woman and her female child. After analyzing 57 autosomal and 19 X-chromosomal short tandem repeat loci, mother-daughter exclusions were discovered at four loci, which were all located on chromosome 2. Further testing of whole-genome single nucleotide polymorphisms confirmed that the daughter had complete uniparental disomy (UPD) of chromosome 2. This study presents a cautionary case demonstrating that hasty decisions of parentage exclusion should not be made when genetic markers on the same chromosome do not conform to Mendel's laws due to UPD.

Proposed Terminology for Anal Squamous Lesions: Its Application and Interobserver Agreement Among Pathologists in Academic and Community Hospitals.

PubMed

Roma, Andres A; Liu, Xiuli; Patil, Deepa T; Xie, Hao; Allende, Daniela

2017-07-01

To analyze interobserver reproducibility and compare practice patterns between academic and community settings of Lower Anogenital Squamous Terminology (LAST). In total, 132 anal biopsy slides were revised as well as p16 immunostains. LAST was used in 49% of cases (academic center, 68%; satellite hospitals [community practice setting], 32%). After pathology review and consensus interpretation, 23 (17%) case diagnoses were reclassified: eight (34.8%) cases (benign or low-grade squamous intraepithelial lesion [LSIL]) were upgraded to high-grade squamous intraepithelial lesion (HSIL) (p16 confirmed ordered during review); four (17.4%) cases originally classified as HSIL were downgraded to LSIL (p16 originally ordered in one case). There was no significant difference in discrepancies between original and consensus diagnosis in the community vs academic setting or by subspecialty (gynecological vs gastrointestinal). Overall interobserver agreement among reviewers was substantial (κ = 0.63) and improved with the use of p16 immunostain in challenging cases (κ = 0.71; P < .001). This new terminology is not yet uniformly used by pathologists in anal/perianal biopsy specimens; this two-tier system has a good interobserver agreement and is further improved with p16 use in appropriate cases. © American Society for Clinical Pathology, 2017. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Diagnostic problems in case of twin pregnancies: US vs. MRI study.

PubMed

Bekiesinska-Figatowska, Monika; Herman-Sucharska, Izabela; Romaniuk-Doroszewska, Anna; Jaczynska, Renata; Furmanek, Mariusz; Bragoszewska, Hanna

2013-09-01

To present an experience with twin pregnancies underlining the impact of magnetic resonance imaging (MRI) on diagnosis and management. There were 17 cases of twin pregnancies: nine monochorionic [including four monochorionic diamniotic and five monochorionic monoamniotic (conjoined twins)] and eight dichorionic. The MRI examinations were performed between 19 and 39 weeks of gestational age in two centers using 1.5 T scanners (GE Signa Excite and GE Signa HDxt; GE Healthcare, Waukesha, WI, USA), always after ultrasound (US). In the first period of our activity, SSFSE sequence in T2-weighted images (SSFSE/T2WI) was the main diagnostic tool supported by TSE or GRE T1-weighted images (T1WI). After upgrading the scanners, diffusion-weighted imaging (DWI), steady-state free precession (FIESTA), and echoplanar GRE imaging (EPIGRE) became available. In 11 cases (64.7%), MRI was superior to US and supplied additional information, including two cases in which pathology of the second twin suspected on US was ruled out on the basis of MRI. In six cases (35.3%) MRI confirmed US diagnosis and brought no new data. MRI offers more detailed assessment of fetal pathology in cases of twin pregnancies, including conjoined twins, in which sonographic evaluation is more difficult than in single cases.

Papers and originals.

PubMed

Rogers, D; Tripp, J; Bentovim, A; Robinson, A; Berry, D; Goulding, R

1976-04-03

Six cases of persistent non-accidental poisoning of children by their parents are reported. Certain features may draw attention to the diagnosis, particularly bizarre symptoms and signs with no apparent pathological explanation, and toxicological analysis should be carried out to obtain rapid confirmation of the diagnosis. The underlying disorder may include marital conflict, overinvolvement between parent and child, or drug abuse in the parents. A suggested plan of action for managing this problem is outlined.

A slow progressor HIV-infected boy developing quadriplegia with evidence of Epstein-Barr virus associated smooth muscle tumour of the cervical spinal cord.

PubMed

Wilaisakditipakorn, Tanaporn; Vilaisaktipakorn, Pitchamol; Bunupuradah, Torsak; Puthanakit, Thanyawee

2015-06-29

The authors report a case of slowly progressive HIV in an 11-year-old boy whose initial presenting AIDS-defining symptom was progressive quadriplegia with complete cord compression and pathological confirmation of Epstein-Barr virus associated smooth muscle tumour. Despite tumour removal, quadriplegia persisted as did ventilator dependence. 2015 BMJ Publishing Group Ltd.

Matrin 3 Is a Component of Neuronal Cytoplasmic Inclusions of Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis.

PubMed

Tada, Mikiko; Doi, Hiroshi; Koyano, Shigeru; Kubota, Shun; Fukai, Ryoko; Hashiguchi, Shunta; Hayashi, Noriko; Kawamoto, Yuko; Kunii, Misako; Tanaka, Kenichi; Takahashi, Keita; Ogawa, Yuki; Iwata, Ryo; Yamanaka, Shoji; Takeuchi, Hideyuki; Tanaka, Fumiaki

2018-02-01

Mutations in the MATR3 gene have been identified as a cause of familial amyotrophic lateral sclerosis, but involvement of the matrin 3 (MATR3) protein in sporadic amyotrophic lateral sclerosis (SALS) pathology has not been fully assessed. We immunohistochemically analyzed MATR3 pathology in the spinal cords of SALS and control autopsy specimens. MATR3 immunostaining of the motor neuron nuclei revealed two distinct patterns: mild and strong staining. There were no differences in the ratio of mild versus strong nuclear staining between the SALS and control cases. MATR3-containing neuronal cytoplasmic inclusions (NCIs) were observed in 60% of SALS cases. Most motor neurons with MATR3-positive NCIs exhibited a mild nuclear staining pattern. Although 16.8% of NCIs positive for transactivating response region DNA-binding protein 43 (TDP-43) were estimated as double-labeled by MATR3, no MATR3-positive or TDP-43-negative NCIs were observed. Although a previous study found that MATR3-positive NCIs are present only in cases with C9orf72 hexanucleotide repeat expansion, ubiquitin-positive granular NCIs were not observed in the cerebellum, which have been reported as specific to C9orf72-related ALS. Six ALS cases were confirmed to be negative for the GGGGCC hexanucleotide. Our results reveal that MATR3 is a component of TDP-43-positive NCIs in motor neurons, even in SALS, and indicate the broader involvement of MATR3 in ALS pathology and the heterogeneity of TDP-43-positive NCIs. Copyright © 2018 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

Histophilus somni-associated syndromes in sheep from Southern Brazil.

PubMed

Headley, Selwyn A; Pereira, Alfredo H T; Balbo, Luciana C; Di Santia, Giovana W; Bracarense, Ana P F R L; Filho, Luiz F C Cunha; Schade, Jackson; Okano, Werner; Pereira, Priscilla F V; Morotti, Fábio; Preto-Giordano, Lucienne G; Marcasso, Rogério A; Alfieri, Alice F; Lisbôa, Júlio A N; Alfieri, Amauri A

2018-03-15

Histophilus somni is a Gram-negative bacterium that is associated with a disease complex (termed histophilosis) that can produce several clinical syndromes predominantly in cattle, but also in sheep. Histophilosis is well described in North America, Canada, and in some European countries. In Brazil, histophilosis has been described in cattle with respiratory, reproductive, and systemic disease, with only one case described in sheep. This report describes the occurrence of Histophilus somni-associated disease in sheep from Southern Brazil. Eight sheep with different clinical manifestations from five farms were investigated by a combination of pathological and molecular diagnostic methods to identify additional cases of histophilosis in sheep from Brazil. The principal pathological lesions were thrombotic meningoencephalitis, fibrinous bronchopneumonia, pulmonary abscesses, and necrotizing myocarditis. The main clinical syndromes associated with H. somni were thrombotic meningoencephalitis (n=4), septicemia (n=4), bronchopneumonia (n=4), and myocarditis (n=3). H. somni DNA was amplified from multiple tissues of all sheep with clinical syndromes of histophilosis; sequencing confirmed the PCR results. Further, PCR assays to detect Pasteurella multocida and Mannheimia haemolytica were negative. These findings confirmed the participation of H. somni in the clinical syndromes investigated during this study, and adds to the previous report of histophilosis in sheep from Brazil. Copyright © 2018 Sociedade Brasileira de Microbiologia. Published by Elsevier Editora Ltda. All rights reserved.

The utility of magnetic resonance imaging in the diagnosis and management of pediatric benign ovarian lesions.

PubMed

Emil, Sherif; Youssef, Fouad; Arbash, Ghaidaa; Baird, Robert; Laberge, Jean-Martin; Puligandla, Pramod; Albuquerque, Pedro

2018-01-31

The utility of magnetic resonance imaging (MRI) in the diagnosis and management of pediatric ovarian lesions has not been well defined. A retrospective review of all girls who underwent MRI evaluation of ovarian masses during the period 2009-2015 was performed. The accuracy of MRI was evaluated by comparing results with surgical findings, pathology reports, and subsequent imaging. The influence of the MRI on the treatment plan was specifically explored. Eighteen girls, 12-17years of age, underwent 27 MRIs, subsequent to ultrasound identification of ovarian lesions. Of 9 neoplastic lesions diagnosed on MRI, 8 (89%) were confirmed by surgical and pathological findings. Of 18 functional lesions, 17 (94.4%) were confirmed pathologically or by resolution on subsequent imaging. Twenty MRI exams (74%) directly influenced the treatment plan, by leading to appropriate operative intervention in 9 and appropriate observation in 11. The extent of ovarian resection was guided by MRI findings in 8 of 9 (89%) neoplastic lesions. For characterizing lesions as neoplastic, the sensitivity, specificity, negative predictive value, positive predictive value, and accuracy of MRI were 89%, 94%, 94%, 89%, and 93% respectively. MRI can differentiate functional from neoplastic pediatric ovarian masses, and guide ovarian resection in appropriate cases. II. Copyright © 2018. Published by Elsevier Inc.

Limited utility of MRA for acute bowel ischemia after portal venous phase CT.

PubMed

Shetty, Anup S; Mellnick, Vincent M; Raptis, Constantine; Loch, Ronald; Owen, Joseph; Bhalla, Sanjeev

2015-10-01

Mesenteric ischemia and ischemic colitis are uncommon but potentially life-threatening causes of acute abdominal pain. Portal venous phase computed tomography (CT) is routinely ordered in the emergency room setting for abdominal pain, but subsequent MR angiography may be requested for additional evaluation of the mesenteric vasculature. We compare the concordance of CT and magnetic resonance angiography (MRA) for acute bowel ischemia. Thirty-two patients who underwent contrast-enhanced MRA for bowel ischemia after having undergone CT evaluation within the preceding 2 weeks were identified. A retrospective review of imaging, treatment history, surgical, and pathology reports was conducted. Two radiologists each reviewed the imaging studies in a blinded fashion. Ten cases of bowel ischemia were confirmed by endoscopy and/or surgical pathology. CT correctly identified bowel findings in all cases. Intraobserver agreement between CT and MRA for all vessels was 0.68 and 0.63, highest for the superior mesenteric artery. Interobserver agreement was 0.74 for MRA and 0.78 for CT. Vascular findings were only directly mentioned in 10 of 32 CT reports (and 7 of 10 cases with confirmed bowel ischemia). MRA only detected two additional or alternative diagnoses. Portal venous phase CT and MRA demonstrate a high degree of concordance for vascular evaluation. Reviewed CT examinations were sufficient to assess the patency of the mesenteric vasculature, but vascular findings were not reported in most cases. A direct description within the report may have obviated the request for further MR imaging. MRA adds little value after portal venous CT in assessing bowel ischemia.

[Hemothorax caused by primary pleural chondrosarcoma: a case report and review of literatureYuan].

PubMed

Yuan, Y Q; Zhu, L Y; Zeng, H H; Zhou, R; Chen, P

2016-11-12

Objective: To analyze the clinical features of one case of spontaneous hemothorax caused by primary pleural chondrosarcoma and therefore to improve the understanding of this disease. Methods: The clinical features of a case with primary pleural chondrosarcoma were analyzed retrospectively and the related literatures were reviewed.The literature review was carried out with "primary pleural, chondrosarcoma" in Chinese and English respectively, as the search terms in Wanfang Data, CNKI and PubMed database from January 1980 to October 2015. A total of 6 articales, 1 in Chinese and 5 in English, were reviewed. Results: A 29 year-old male patient was admitted to the hospital because of fever, chest tightness, shortness of breath for 20 days. CT scan of the chest showed a mass near the right posterior fourth rib and right pleural effusion.Routine examination of the pleural effusion confirmed the presence of hemothorax. Thoracotomy was performed and revealed hemothorax in the right thorax, and a mass near the pleural apex. The tumor was removed by surgery and pleural decortication was also performed. Pathology study confirmed the diagnosis of high-differentiated chondrosarcoma. The patient was followed and there was no recurrence until now. A total of 6 case reports were retrieved from Wanfang Data, CNKI and PubMed. Five cases had complete data, including 2 males and 3 females(age from 28 to70), and another (a 78-year old male) without adequate data. Conclusions: Primary pleural chondrosarcoma is a rare disease, and hemothorax as the first manifestation is even rare. It is easily to be misdiagnosed due to nonspecific clinical symptoms.The final diagnosis depends ultimately on pathological biopsy. Thoracotomy is the most effective method for treatment of primary pleural chondrosarcoma.

Idiopathic pulmonary fibrosis in a Staffordshire bull terrier with hypothyroidism.

PubMed

Corcoran, B M; Dukes-McEwan, J; Rhind, S; French, A

1999-04-01

Radiographic evidence of chronic interstitial lung changes, usually believed to be attributable to lung fibrosis, is readily recognised in canine practice. Furthermore, there is a body of anecdotal evidence suggesting that a specific clinical entity consistent with chronic lung fibrosis occurs in specific breeds of terrier dogs. However, there is little pathological data to confirm these radiographic and clinical findings and, therefore, chronic interstitial lung disease of dogs is poorly characterised. In this report, a case of chronic pulmonary fibrosis is described in which histopathological confirmation was possible, and suggested that the condition might be analogous to idiopathic pulmonary fibrosis (cryptogenic fibrosing alveolitis) in humans.

Lesion with morphologic feature of organizing pneumonia (OP) in CT-guided lung biopsy samples for diagnosis of bronchiolitis obliterans organizing pneumonia (BOOP): a retrospective study of 134 cases in a single center.

PubMed

Miao, Liyun; Wang, Yongsheng; Li, Yan; Ding, Jingjing; Chen, Lulu; Dai, Jinghong; Cai, Hourong; Xiao, Yonglong; Cao, Min; Huang, Mei; Qiu, Yuying; Meng, Fanqing; Fan, Xiangshan; Zhang, Deping; Song, Yong

2014-09-01

Small biopsy samples are generally considered inconclusive for bronchiolitis obliterans organizing pneumonia (BOOP) diagnosis despite their potential to reveal organizing pneumonia (OP) pathologically, necessitating risky invasive tissue biopsy during surgery for reliable confirmation. OP by CT-guided lung biopsy was to evaluate the role in the diagnosis of BOOP. A retrospective review of 134 cases with the OP feature in the CT-guided lung biopsy samples between 2004 and 2011 at a single center was conducted. Diagnostic accuracy of OP by CT-guided lung biopsy and clinical-radiographic data alone were compared. After exclusion of 11 cases due to pathology with others besides OP and 15 cases for loss to follow-up, 108 were included. Of these, 95 cases and 13 cases were classified as BOOP and non-BOOP group, respectively. Among BOOP group, only 30 were initially diagnosed as BOOP according to the typical clinical and radiographic features. The other 65 cases with atypical features were diagnosed as BOOP mainly based on OP by CT-guided lung biopsy. Among non-BOOP group, one was misdiagnosed as BOOP, and others were not BOOP according to clinical and radiographic findings. Thus, OP by CT-guided lung biopsy produced a diagnostic accuracy of 87.96% (95/108), much higher than 31.25% (30/96) observed using clinical and radiographic data alone. Combined, these techniques produced diagnostic accuracy of 98.96% (95/96). OP by CT-guided lung biopsy can be effectively used as the pathological evidence for BOOP diagnosis and reducing unnecessary surgery.

Lesion with morphologic feature of organizing pneumonia (OP) in CT-guided lung biopsy samples for diagnosis of bronchiolitis obliterans organizing pneumonia (BOOP): a retrospective study of 134 cases in a single center

PubMed Central

Wang, Yongsheng; Li, Yan; Ding, Jingjing; Chen, Lulu; Dai, Jinghong; Cai, Hourong; Xiao, Yonglong; Cao, Min; Huang, Mei; Qiu, Yuying; Meng, Fanqing; Fan, Xiangshan; Zhang, Deping

2014-01-01

Background Small biopsy samples are generally considered inconclusive for bronchiolitis obliterans organizing pneumonia (BOOP) diagnosis despite their potential to reveal organizing pneumonia (OP) pathologically, necessitating risky invasive tissue biopsy during surgery for reliable confirmation. Objective OP by CT-guided lung biopsy was to evaluate the role in the diagnosis of BOOP. Methods A retrospective review of 134 cases with the OP feature in the CT-guided lung biopsy samples between 2004 and 2011 at a single center was conducted. Diagnostic accuracy of OP by CT-guided lung biopsy and clinical-radiographic data alone were compared. Results After exclusion of 11 cases due to pathology with others besides OP and 15 cases for loss to follow-up, 108 were included. Of these, 95 cases and 13 cases were classified as BOOP and non-BOOP group, respectively. Among BOOP group, only 30 were initially diagnosed as BOOP according to the typical clinical and radiographic features. The other 65 cases with atypical features were diagnosed as BOOP mainly based on OP by CT-guided lung biopsy. Among non-BOOP group, one was misdiagnosed as BOOP, and others were not BOOP according to clinical and radiographic findings. Thus, OP by CT-guided lung biopsy produced a diagnostic accuracy of 87.96% (95/108), much higher than 31.25% (30/96) observed using clinical and radiographic data alone. Combined, these techniques produced diagnostic accuracy of 98.96% (95/96). Conclusions OP by CT-guided lung biopsy can be effectively used as the pathological evidence for BOOP diagnosis and reducing unnecessary surgery. PMID:25276367

Relationship between thoracic auscultation and lung pathology detected by ultrasonography in sheep.

PubMed

Scott, Phil; Collie, Dave; McGorum, Bruce; Sargison, Neil

2010-10-01

The utility of routine auscultation to detect and characterise the nature of a range of superficial lung and pleural pathologies in domestic sheep was assessed using ultrasonographic examination to indicate and localise pathologies pre-mortem. Necropsy examination was then used to fully characterise the nature and extent of the lesions. Auscultation recordings were made from 10 normal sheep with no clinical evidence of respiratory disease and with absence of significant superficial lung pathology, which was confirmed initially by ultrasound examination and subsequently at necropsy examination. A further two sheep with endotoxaemia and 30 sheep with well-defined lung lesions were also examined. Increased audibility of normal lung sounds in 4/10 normal sheep was associated with tachypnoea as a consequence of handling and transport during hot weather and was also observed in the two sheep with endotoxaemia. Moderate to severe coarse crackles detected in all advanced cases of ovine pulmonary adenocarcinoma (n=16) were audible over an area larger than the lesion distribution identified during ultrasound examination, and confirmed later at necropsy. Auscultation did not detect abnormal sounds in any of the five sheep with focal pleural abscesses (up to 10 cm diameter). Unilateral pyothorax caused attenuation of sounds relative to the contra-lateral normal lung in all three sheep with this condition. Marked fibrinous pleurisy caused attenuation of sounds relative to normal areas of lung in six sheep. No sounds resembling the description of pleural frictions rubs were heard in the sheep with marked fibrinous pleurisy (n=6) or associated with focal pleural abscesses (n=5). Routine interpretation of auscultated sound did not allow the presence of superficial lung pathology or its distribution to be accurately defined in the respiratory diseases represented in this study. Copyright © 2009 Elsevier Ltd. All rights reserved.

The clinical and pathological characteristics of nephropathies in connective tissue diseases in the Japan Renal Biopsy Registry (J-RBR).

PubMed

Ichikawa, Kazunobu; Konta, Tsuneo; Sato, Hiroshi; Ueda, Yoshihiko; Yokoyama, Hitoshi

2017-12-01

In connective tissue diseases, a wide variety of glomerular, tubulointerstitial, and vascular lesions of the kidney are observed. Nonetheless, recent information is limited regarding renal lesions in connective tissue diseases, except in systemic lupus erythematosus (SLE). In this study, we used a nationwide database of biopsy-confirmed renal diseases in Japan (J-RBR) (UMIN000000618). In total, 20,523 registered patients underwent biopsy between 2007 and 2013; from 110 patients with connective tissue diseases except SLE, we extracted data regarding the clinico-pathological characteristics of the renal biopsy. Our analysis included patients with rheumatoid arthritis (RA) (n = 52), Sjögren's syndrome (SjS) (n = 35), scleroderma (n = 10), mixed connective tissue disease (MCTD; n = 5), anti-phospholipid syndrome (APS; n = 3), polymyositis/dermatomyositis (PM/DM; n = 1), Behçet's disease (n = 1) and others (n = 3). The clinico-pathological features differed greatly depending on the underlying disease. The major clinical diagnosis was nephrotic syndrome in RA; chronic nephritic syndrome with mild proteinuria and reduced renal function in SjS; rapidly progressive nephritic syndrome in scleroderma. The major pathological diagnosis was membranous nephropathy (MN) and amyloidosis in RA; tubulointerstitial nephritis in SjS; proliferative obliterative vasculopathy in scleroderma; MN in MCTD. In RA, most patients with nephrosis were treated using bucillamine, and showed membranous nephropathy. Using the J-RBR database, our study revealed that biopsy-confirmed cases of connective tissue diseases such as RA, SjS, scleroderma, and MCTD show various clinical and pathological characteristics, depending on the underlying diseases and the medication used.

CNV-RF Is a Random Forest-Based Copy Number Variation Detection Method Using Next-Generation Sequencing.

PubMed

Onsongo, Getiria; Baughn, Linda B; Bower, Matthew; Henzler, Christine; Schomaker, Matthew; Silverstein, Kevin A T; Thyagarajan, Bharat

2016-11-01

Simultaneous detection of small copy number variations (CNVs) (<0.5 kb) and single-nucleotide variants in clinically significant genes is of great interest for clinical laboratories. The analytical variability in next-generation sequencing (NGS) and artifacts in coverage data because of issues with mappability along with lack of robust bioinformatics tools for CNV detection have limited the utility of targeted NGS data to identify CNVs. We describe the development and implementation of a bioinformatics algorithm, copy number variation-random forest (CNV-RF), that incorporates a machine learning component to identify CNVs from targeted NGS data. Using CNV-RF, we identified 12 of 13 deletions in samples with known CNVs, two cases with duplications, and identified novel deletions in 22 additional cases. Furthermore, no CNVs were identified among 60 genes in 14 cases with normal copy number and no CNVs were identified in another 104 patients with clinical suspicion of CNVs. All positive deletions and duplications were confirmed using a quantitative PCR method. CNV-RF also detected heterozygous deletions and duplications with a specificity of 50% across 4813 genes. The ability of CNV-RF to detect clinically relevant CNVs with a high degree of sensitivity along with confirmation using a low-cost quantitative PCR method provides a framework for providing comprehensive NGS-based CNV/single-nucleotide variant detection in a clinical molecular diagnostics laboratory. Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

24-hour esophageal pH-monitoring in children suspected of gastroesophageal reflux disease: analysis of intraesophageal pH monitoring values recorded in distal and proximal channel at diagnosis.

PubMed

Semeniuk, Janusz; Kaczmarski, Maciej

2007-10-14

To assess values of 24-h esophageal pH-monitoring parameters with dual-channel probe (distal and proximal channel) in children suspected of gastroesophageal reflux disease (GERD). 264 children suspected of gastroesophageal reflux (GER) were enrolled in a study (mean age c=20.78+/-17.23 mo). The outcomes of this study, immunoallerrgological tests and positive result of oral food challenge test with a potentially noxious nutrient, enabled to qualify children into particular study groups. 32 (12.1%) infants (group 1) had physiological GER diagnosed. Pathological acid GER was confirmed in 138 (52.3%) children. Primary GER was diagnosed in 76 (28.8%) children (group 2) and GER secondary to allergy to cow milk protein and/or other food (CMA/FA) in 62 (23.5%) children (group 3). 32 (12.1%) of them had CMA/FA (group 4-reference group), and in remaining 62 (23.5%) children neither GER nor CMA/FA was confirmed (group 5). Mean values of pH monitoring parameters measured in distal and proximal channel were analyzed in individual groups. This analysis showed statistically significant differentiation of mean values in the case of: number of episodes of acid GER, episodes of acid GER lasting >5 min, duration of the longest episode of acid GER in both channels, acid GER index total and supine in proximal channel. Statistically significant differences of mean values among examined groups, especially between group 2 and 3 in the case of total acid GER index (only distal channel) were confirmed. 24-h esophageal pH monitoring confirmed pathological acid GER in 52.3% of children with typical and atypical symptoms of GERD. The similar pH-monitoring values obtained in group 2 and 3 confirm the necessity of implementation of differential diagnosis for primary vs secondary cause of GER.

Is Routine Pathologic Evaluation of Sebaceous Cysts Necessary?: A 15-Year Retrospective Review of a Single Institution.

PubMed

Gargya, Vipul; Lucas, Heather D; Wendel Spiczka, Amy J; Mahabir, Raman Chaos

2017-02-01

A question arose in our practice of whether all cysts considered sebaceous should be sent for pathologic evaluation. To address this controversial topic, we performed a retrospective study of our single institution's histopathology database. A natural language search of the CoPath database across the institution was undertaken using the diagnosis of sebaceous cyst, epidermal cyst, epidermoid cyst, epithelial cyst, infundibular cyst, pilar cyst, trichilemmal cyst, and steatocystoma. A surgical pathologic review of all specimens with one of these preexcision diagnoses was included in the 15-year retrospective study of 1998 to 2013. All slides were confirmed to have undergone histopathologic review, and the preexcision diagnoses were compared with the postexcision diagnoses. Chart review was undertaken in instances of a diagnosis of malignancy. A total of 13,746 samples were identified. Forty-eight specimens had histopathologic diagnosis of malignancy, for an incidence of 0.3% and with the most common malignancy being squamous cell carcinoma. Chart review showed that for all cases, the surgeons reported uncertainty with regard to the diagnosis because of history or physical characteristics, or both. In addition, a comprehensive literature review showed results consistent with our data and illustrated 19 cases during the past 10 years in which most of the findings were squamous cell carcinoma. We propose the recommendation that routine pathologic evaluation of sebaceous cysts is necessary only when clinical suspicion exists.

Endoscopic Ultrasound in Barrett's Oesophagitis with Dysplasia

PubMed Central

Wray, Andrew; Rice, Paul; Love, Mark

2012-01-01

Purpose With the advent of conservative therapies including photodynamic therapy and endoscopic mucosal resection for Barrett's and high grade dysplasia, accurate staging has become increasingly important. We report our experience with endoscopic ultrasound (EUS) in these patients. Materials and Methods Retrospective review of 25 consecutive patients referred for EUS for assessment of Barrett's with high grade dysplasia and /or stricture or polyp. The findings were compared with subsequent surgical pathology, or endoscopy and biopsy follow up. Results Nine patients were found to have invasive tumour on EUS and this was confirmed in all 9 either by oesophagectomy, OGD and oncology follow up, or by endoscopic mucosal resection. Eight patients underwent oesophagectomy, 5 for invasive tumour and 3 for dysplasia only, with pathological agreement with EUS findings in 7 out of 8 cases. The one discrepancy was a EUS case of mucosal thickening only with no invasion, but pathology showed a T1 lesion. Thirteen patients with no evidence of invasion were managed conservatively, with 11 patients being followed up for 6-12 months with serial OGD and biopsy, and no cases of more invasive disease occurring. Therefore, in our experience the sensitivity, specificity and positive predictive value of EUS in complex Barrett's is 90%, 100% and 100% respectively. Conclusion EUS is valuable in the assessment of high grade dysplasia in cases where conservative therapy is being considered, defining those with more deeply invasive tumour for whom radical treatment is the only option. PMID:23526576

Dynamic nonrobotic telemicroscopy via skype: A cost effective solution to teleconsultation.

PubMed

Sirintrapun, Sahussapont J; Cimic, Adela

2012-01-01

Skype is a peer to peer software application that has been historically used for voice and video calls, instant messaging, and file transfer over the Internet. Few studies are available using Skype specifically for telepathology. Our aim is to show that dynamic nonrobotic teleconsultation is possible and even effective via means of a standard microscope camera capable of live acquisition, Skype, an established broad band internet connection, and experienced pathologists. Both the consulting "sending" pathologist and consultant "receiving" pathologist are reasonably experienced general surgical pathologists at junior attending level with several years of experience in sign out. Forty-five cases were chosen encompassing a broad range of surgical pathology specimens. The cases were prospectively evaluated with the consultant diagnosis used as a preliminary pathologic impression with the final diagnosis being confirmation. Versions of Skype 5.0 and above were used along with established broadband internet connections, usually between academic medical institutions. Forty of forty-five cases (89%) were essentially concordant. In four of forty-five cases (9%), the consulting impression gave a differential, but favored an entity which did not match the final diagnosis. Only one case (2%) did the consulting impression not match the final diagnosis; a discordant opinion. The image quality via Skype screen sharing option is excellent. Essentially no lag time was seen. We have shown in our small pilot study that Skype is an effective cost-efficient means for teleconsultation, particularly in the setting of entity-related differential diagnoses in surgical pathology and when both the consulting and consultant pathologists are reasonably experienced.

[Clinical analyses of the diagnosis and treatment of invasive fungal rhinosinusitis: report of 14 cases].

PubMed

Shi, G G; Shi, L; Zhang, Z Y; Wan, Y Z; Li, B; Yu, L; Zhang, E P; Ju, H S; He, M Q; Ji, H Z

2016-08-07

Through the retrospective analysis of the clinical data in 14 cases of invasive fungal rhinosinusitis (IFRS), the clinical characteristics, diagnosis and treatment of this disease were evaluated. Fourteen clinically confirmed cases of IFRS since January 2008 to October 2015 were evaluated.collected, the clinical features, diagnosis, treatment and prognosis were analyzed to obtain a more comprehensive understanding for clinical reference. Fourteen patients were confirmed by pathological examination as IFRS, including 9 cases of aspergillus, 4 cases of mucor, and 1 case of rhinocerebral zygomycosis; including 5 cases of acute IFRS, 9 cases of chronic IFRS. All patients were treated with endoscopic surgery and intravenous antifungal therapy. Nine cases of chronic IFRS (including 1 case of mucor, 7 cases of aspergillus and 1 case of rhinocerebral zygomycosis) were cured, but the vision loss, diplopia or blindness, hard palate perforation remained. Five cases of acute IFRS included 3 cases of mucor and 2 cases of aspergillus. Among the 3 cases of mucor, 2 cases were died and 1 case was cured. Among the 2 cases of aspergillus, 1 patient was cured and the other patient died of electrolyte disorder after discharge from hospital. Patients with IFRS usually have diabetes. After the active surgical cleaning of lesion tissue and the systematic antifungal treatment with adequate dosage, these patients would have a better result. IFRS caused by mucor is ofen dangerous.

Major pathologic response to alectinib in ALK-rearranged adenocarcinoma of the lung.

PubMed

Imanishi, Naoko; Yoneda, Kazue; Taira, Akihiro; Ichiki, Yoshinobu; Sato, Naoko; Hisaoka, Masanori; Tanaka, Fumihiro

2018-03-09

Alectinib is a highly selective tyrosine kinase inhibitor of anaplastic lymphoma kinase (ALK) and provided a significantly prolonged progression-free survival compared with chemotherapy in patients with advanced non-small cell lung cancer (NSCLC) harboring rearrangements of the ALK gene. Here, we present the first surgical case of ALK-rearranged lung adenocarcinoma with major pathological response in resected specimens after treatment with alectinib. A 65-year-old female with clinical stage IIIA-N2 ALK-rearranged adenocarcinoma originating from the left lower lobe presented. Involvement of lower para-tracheal node was pathologically confirmed by endobronchial ultrasound-guided biopsy. Alectinib was prescribed, as the patient may not tolerate radiotherapy due to a mental illness. After 3 months' treatment with alectinib, a remarkable radiological and metabolic response was achieved. The patient did not tolerate further continuation of alectinib treatment, and surgery was performed without any morbidity. Only < 10% tumor cells were viable in all resected specimens, indicating major pathological response to alectinib. Salvage surgery after alectinib treatment may be safe and effective for initially unresectable NSCLC harboring ALK-rearrangements.

Thoracic spine localization using preoperative placement of fiducial markers and subsequent CT. A technical report.

PubMed

Anaizi, Amjad Nasr; Kalhorn, Christopher; McCullough, Michael; Voyadzis, Jean-Marc; Sandhu, Faheem A

2015-01-01

A retrospective case series evaluating the use of fiducial markers with subsequent computed tomography (CT) or CT myelography for intraoperative localization. To evaluate the safety and utility of preoperative fiducial placement, confirmed with CT myelography, for intraoperative localization of thoracic spinal levels. Thoracic spine surgery is associated with serious complications, not the least of which is the potential for wrong-level surgery. Intraoperative fluoroscopy is often used but can be unreliable due to the patient's body habitus and anatomical variation. Sixteen patients with thoracic spine pathology requiring surgical intervention underwent preoperative fiducial placement at the pedicle of the level of interest in the interventional radiology suite. CT or CT myelogram was then done to evaluate fiducial location relative to the level of pathology. Surgical treatment followed at a later date in all patients. All patients underwent preoperative fiducial placement and CT or CT myelography, which was done on an outpatient basis in 14 of the 16 patients. Intraoperatively, fiducial localization was easily and quickly done with intraoperative fluoroscopy leading to correct localization of spinal level in all cases. All patients had symptomatic improvement following surgery. There were no complications from preoperative localization or operative intervention. Preoperative placement of fiducial markers confirmed with a CT or CT myelogram allows for reliable and fast intraoperative localization of the spinal level of interest with minimal risks and potential complications to the patient. In most cases, a noncontrast CT should be sufficient. This should be an equally reliable means of localization while further decreasing potential for complications. CT myelography should be reserved for pathology that is not evident on noncontrast CT. Accuracy of localization is independent of variations in rib number or vertebral segmentation. The technique is a safe, reliable, and rapid means of localizing spinal level during surgery. Georg Thieme Verlag KG Stuttgart · New York.

Nipple adenoma arising from axillary accessory breast: a case report

PubMed Central

2012-01-01

Nipple adenoma is a relatively rare benign breast neoplasm, and cases of the disease arising from the axillary accessory breast have very seldom been reported in the English literature. We report a case of nipple adenoma arising from axillary accessory breast including clinical and pathological findings. An 82-year-old woman presented with the complaint of a small painful mass in the right axilla. Physical examination confirmed a well-defined eczematous crusted mass that was 8 mm in size. The diagnosis of nipple adenoma was made from an excisional specimen on the basis of characteristic histological findings. Microscopic structural features included a compact proliferation of small tubules lined by epithelial and myoepithelial cells, and the merging of glandular epithelial cells of the adenoma into squamous epithelial cells in the superficial epidermal layer. Because clinically nipple adenoma may resemble Paget’s disease and pathologically can be misinterpreted as tubular carcinoma, the correct identification of nipple adenoma is an important factor in the differential diagnosis for axillary tumor neoplasms. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1186821489769063 PMID:23186145

Right Atrial Anomalous Muscle Bundle Presenting with Acute Superior Vena Cava Syndrome and Pulmonary Embolism: Surgical Management.

PubMed

Madjarov, Jeko M; Katz, Michael G; Madjarova, Sophia; Madzharov, Svetozar; Arko, Frank R; Miller, David W; Robicsek, Francis

2018-05-21

An anomalous muscle bundle crossing the right atrial cavity represents a pathological finding with unproved clinical significance. This congenital anomaly may be difficult to recognize via echocardiography and could be confused with other intra-cavitary lesions. We report a case of a 53-year-old female presented to the cardio-vascular service with acute superior vena cava syndrome and sub-massive pulmonary embolism. The patient underwent venography confirming superior vena cava stenosis. A ventilation/perfusion lung scan showed two sizable perfusion defects due to pulmonary embolism. MRI and echocardiography imaging demonstrated right atrium mass. Surgery was then carried out using standard cardiopulmonary bypass; right atrial muscle bundle was excised and superior vena cava reconstruction was performed. The patient was discharged uneventfully and remains symptom-free at two years follow-up. In cases of nonmalignant pathology of superior vena cava syndrome, appropriate studies should be conducted to exclude potential congenital abnormalities such as this anomalous muscle bundle in the right atrium. Open heart surgery is a viable treatment option in select cases. Published by Elsevier Inc.

Pathological changes in the thyroid gland in crush asphyxia.

PubMed

Byard, Roger W

2013-12-01

To determine whether crush asphyxia may be associated with macro- and microscopic changes in the thyroid gland, four cases of death due to crush asphyxia were evaluated where the decedents (males aged 36, 37, 45, and 65 years respectively) suffered lethal chest compressions. The diagnosis of crush asphyxia in each case was suggested by the death scene description and confirmed by the finding of injuries to the torso, with marked congestion of the face, neck, and upper body associated with petechial and subconjunctival hemorrhages. In addition to other pathological findings, each decedent had intense congestion of their thyroid gland resulting in a dark/black appearance. Microscopically, stromal capillaries were engorged, with bulging of capillaries into the follicles. Rupture of these small vessels had created focal intrafollicular aggregates of erythrocytes within the colloid. As intense suffusion of the thyroid gland with blood in cases of crush asphyxia may impart an appearance of "black thyroid" this may be another feature of this condition to look for at autopsy, in addition to intrafollicular blood lakes on histology.

Malignant inguinal monophasic synovial sarcoma: report of a case and review of the literature.

PubMed

Xu, Ji; Wang, Jia; Cui, Long; Wu, Xiangru

2010-11-21

A synovial sarcoma (SS) is an aggressive soft tissue tumor that classically occurs in the extremities near, but rarely within large joints, in young adults. Variable symptoms and clinical manifestations may be encountered and a definite diagnosis should depend on pathological results. This poses certain difficulties in arriving at a prompt diagnosis and appropriate treatment. We report the case of a 68-year-old woman patient who presented an inguinal mass with swelling and pain in the right lower limb. She underwent surgery, and later received systematic intravenous chemotherapy. The pathological studies, especially the specific chromosomal translocation of a t(X;18) (p11.2;q11.2), confirmed the diagnosis as a synovial sarcoma. To the best of our knowledge, this is the first report of a monophasic synovial sarcoma in the inguinal region. Besides making the readership aware of the rarity of location and age of this present case, this report distinctly highlights the great value of a molecular analysis of an SYT associated genetic alteration in the diagnosis of synovial sarcoma occurring at rare sites especially when immunochemical results are equivocal.

[A case of vocal cord contact granuloma after vocal cord polyp surgery].

PubMed

Qiu, Zhili; Jiang, Xiaoping; Yuan, Xiaodong

2016-01-01

The vocal cord polyp is easy to relapse after surgery, but if the patient has recurrence in a short term, it is necessary to consider it as postoperative vocal cord contact granuloma. If the patients with contact granuloma after surgical treatment had severe impact on the pronunciation, it is necessary to be operated and confirmed by pathology and given the treatment of acid suppression, in order to avoid postoperative recurrence.

Papers and originals.

PubMed Central

Rogers, D; Tripp, J; Bentovim, A; Robinson, A; Berry, D; Goulding, R

1976-01-01

Six cases of persistent non-accidental poisoning of children by their parents are reported. Certain features may draw attention to the diagnosis, particularly bizarre symptoms and signs with no apparent pathological explanation, and toxicological analysis should be carried out to obtain rapid confirmation of the diagnosis. The underlying disorder may include marital conflict, overinvolvement between parent and child, or drug abuse in the parents. A suggested plan of action for managing this problem is outlined. PMID:1260335

Empirically Estimable Classification Bounds Based on a Nonparametric Divergence Measure

PubMed Central

Berisha, Visar; Wisler, Alan; Hero, Alfred O.; Spanias, Andreas

2015-01-01

Information divergence functions play a critical role in statistics and information theory. In this paper we show that a non-parametric f-divergence measure can be used to provide improved bounds on the minimum binary classification probability of error for the case when the training and test data are drawn from the same distribution and for the case where there exists some mismatch between training and test distributions. We confirm the theoretical results by designing feature selection algorithms using the criteria from these bounds and by evaluating the algorithms on a series of pathological speech classification tasks. PMID:26807014

Revision Surgical Treatment of a Second Lumbar Ewing Sarcoma: A Report of a Rare Case.

PubMed

Feng, Helin; Wang, Jin; Guo, Peng; Xu, Jianfa; Feng, Jiangang

2015-07-01

We report a case of a 58-year-old man who presented initially with lumbar pain.According to radiography, computed tomography, magnetic resonance imaging, and bone biopsy results, Ewing sarcoma (ES) was diagnosed. Tumor resection was performed, followed by chemotherapy and radiotherapy; pathology confirmed the diagnosis of ES. After surgery, the tumor recurred twice with progressive symptoms, meriting repeated excisional surgery. At the 4-year follow-up, the patient showed apparent improvement, with return of function and strength and resolution of pain.We discuss its clinical features and treatment in the light of the current knowledge.

[A case of malignant lymphoma successfully diagnosed using Sasada transbronchial angled biopsy forceps].

PubMed

Komori, Chika; Sasada, Shinji; Okamoto, Norio; Kawahara, Kunimitsu; Uehara, Nobuko; Shimada, Kazutaka; Kuhara, Hanako; Terada, Haruko; Tsujino, Kazuyuki; Matsunashi, Tatsuro; Minami, Toshiyuki; Suzuki, Hidekazu; Kobayashi, Masashi; Hirashima, Tomonori; Matsui, Kaoru; Kawase, Ichiro; Kusunoki, Yoko

2009-01-01

A 68-year-old man was referred to our hospital due to general fatigue, fever and weight loss. His chest radiograph showed a nodule (2.8 cm) in the right middle lobe. Computed tomography and positron emission tomography showed multiple metastases to the bone, liver and lymph nodes. The lung nodule was not accessible by standard transbronchial forceps. However, biopsy specimens obtained using Sasada Transbronchial Angled Biopsy Forceps (STAF) pathologically confirmed the diagnosis of malignant lymphoma. We report the case, and discuss the utility of STAF for lung lesions that are difficult to access with standard forceps.

Occupational pulmonary aluminosis: a case report.

PubMed

Smolková, Petra; Nakládalová, Marie; Tichý, Tomáš; Hampalová, Marie; Kolek, Vítězslav

2014-01-01

The authors present a case of occupational lung damage from exposure to dust containing aluminium. The first detected objective pathological finding was that of dispersed micronodules in the lungs seen in a chest radiograph. The final diagnosis of pulmonary aluminosis was established after three years of gradual exclusion of other interstitial lung diseases. The diagnosis was supported by the occupational history confirmed by hygiene assessment of the patient's workplace and especially by histological examination with elemental analysis of the lung tissue. The possibility of development of this rare condition should not be underestimated in workers at high-risk jobs.

Umbilical hernia masking primary umbilical endometriosis - a case report.

PubMed

Brătilă, Elvira; Ionescu, Oana Maria; Badiu, Dumitru Cristinel; Berceanu, Costin; Vlădăreanu, Simona; Pop, Doina Mihaela; MehedinŢu, Claudia

2016-01-01

Endometriosis is a gynecologic condition affecting mainly the pelvic organs. However, extrapelvic endometriosis has been reported in almost all parts of the body. Umbilical endometriosis, either primary or secondary, is uncommon and has a documented neoplastic risk. We present the case of a 46-year-old woman with a large umbilical hernia associating primary umbilical endometriosis discovered during surgery and confirmed later by pathological and immunohistochemical exams. The patient underwent omphalectomy and partial omentum resection, alongside with mesh abdominal wall repair. The patient was informed about the recurrence risk and was asymptomatic at follow-up consults.

[Study on clinical management of HPV(+)/Pap(-) during cervical cancer screening].

PubMed

Huang, A J; Zhao, Y; Zou, X L; Yan, J; Zhao, C; Cui, S H; Li, Y Y; Ren, L H; Li, J R; Li, M Z; Wang, Y; Wang, J L; Wei, L H

2017-11-25

Objective: To study the clinical management way for HPV(+)/papanicolaou (Pap)(-) during cervical cancer screening. Methods: To analyze retrospectively the data from the patients who had loop electrical excision procedure (LEEP) for biopsy confirmed cervical intraepithelial neoplasia (CIN) Ⅱ in Peking University People's Hospital from Jan. 2010 to Dec. 2014. Results: (1) For biopsy confirmed CIN Ⅱ, HPV positive rate was 98.5% (135/137), Pap test positive [≥atypical squamous cell of undetermined significance (ASCUS)] rate was 69.3% (95/137), there was significant difference between them (χ(2)=43.32, P< 0.01). (2) For the 42 patients with HPV(+)/Pap(-), whose cytology slides were reviewed again. Among them, the interpretations of there were 16 cases confirmed as the same before, while 26 cases were changed to abnormal (≥ASCUS). Cytology be misdiagnosed was 19.0% (26/137) at the first review. Among the 26 cases, 13 (50.0%) cases were missed for the little amount of abnormal cells, 8 (30.8%) cases for mild atypical morphology changed; the other 5 (19.2%) cases missed for stain problems. (3) For the cervical LEEP samples, 37 cases of the pathology diagnosis were upgrade to CIN Ⅲ(+), among them, 2 cases of microinvasive cervical carcinoma, 1 case of invasive cancer, 34 cases of CIN Ⅲ; 37 cases were CINⅠ or no lesion found; 63 cases were still CIN Ⅱ. Four to six months later after LEEP, the cytology abnormal rate was 11.7% (16/137), and the HR-HPV positive rate was 34.3% (47/137). Conclusions: Compared with cytology alone, cytology combined with HPV testing increase the sensitivity of cervical high grade lesion. For the cases of HPV(+)/Pap(-) cases, the cytology slides should be reviewed. The quality control of cervical exfoliate sample collection and interpretation should be strengthened. LEEP procedure is not only a treatment method, but also it could provide samples to confirm the diagnosis.

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

PubMed Central

Harvey, A. Simon; Malone, Stephen; Damiano, John A.; Do, Hongdo; Ye, Zimeng; McQuillan, Lara; Maixner, Wirginia; Kalnins, Renate; Nolan, Bernadette; Wood, Martin; Ozturk, Ezgi; Jones, Nigel C.; Gillies, Greta; Pope, Kate; Lockhart, Paul J.; Dobrovic, Alexander; Leventer, Richard J.; Scheffer, Ingrid E.

2018-01-01

Objective To determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis. Methods We used sensitive droplet digital PCR (ddPCR) to detect and quantify the GNAQ mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations. Results Low levels of the GNAQ mutation were detected in the brain tissue of all 4 cases—ranging from 0.42% to 7.1% frequency—but not in blood-derived DNA. Molecular evaluation confirmed the diagnosis in 1 case in which the radiologic and pathologic data were equivocal. Conclusions We detected the mutation at low levels, consistent with mosaicism in the brain or skin (1.0%–18.1%) of classic cases. Our data confirm that the forme fruste is part of the spectrum of SWS, with the same molecular mechanism as the classic disease and that ddPCR is helpful where conventional diagnosis is uncertain. PMID:29725622

Progression of an osteoid osteoma to an osteoblastoma. Case report.

PubMed

Bruneau, Michaël; Polivka, Marc; Cornelius, Jan Frédérick; George, Bernard

2005-09-01

The authors report the unusual case of a 25-year-old man with occipitocervical pain related to a lesion of the C-1 lateral mass. Initially this lesion measured 8 mm and exhibited radiological features of an osteoid osteoma. Seven years later, as pain increased and became unresponsive to antiinflammatory drugs, computerized tomography scanning demonstrated progression to a 16-mm lesion, highly suspicious of an osteoblastoma. After mobilization of the vertebral artery from the C-1 groove, the lesion was completely resected via an anterolateral approach. Complete symptomatic relief, restoration of cervical range of motion and preservation of cervical stability were achieved immediately after surgery, and the results were confirmed at the 4-year follow-up examination. Pathological examination of tissue samples confirmed the diagnosis of osteoblastoma. Osteoid osteoma rarely evolves to osteoblastoma. Deterioration of a patient's ability to control pain is a warning sign. Insight into such cases underlines the importance of close long-term radiological follow-up examination in patients with conservatively treated osteoid osteomas.

Degenerative (true) superficial temporal artery aneurysm: a case report with review of literature.

PubMed

Mousa, Albeir Y; Jain, Akhilesh K; Campbell, John E; Stone, Patrick A; AbuRahma, Ali F

2011-08-01

This is a case report of a 72-year-old female who presented to our clinic with right temple mass that was found incidentally on a magnetic resonance imaging (MRI) of her head about 2 years ago, as part of a stroke workup. However, it was thought to be a sebaceous cyst and left as such. The patient then experienced a rapid increase in the size of the mass about 2 weeks prior to her presentation to us. On examination, she had a 2 × 2 cm pulsating aneurysmal mass over the right temporal fossa, which was felt to be an aneurysm of the superficial temporal artery and was confirmed by a color duplex ultrasound examination. Open surgical resection with primary ligation of both proximal and distal branches was achieved under local anesthesia. Pathology confirmed a true (degenerative) aneurysm of the superficial temporal artery. Her postoperative course was uneventful. This case report describes this rare entity along with a review of the literature.

[Saccharomyces cerevisiae invasive infection: The first reported case in Morocco].

PubMed

Maleb, A; Sebbar, E; Frikh, M; Boubker, S; Moussaoui, A; El Mekkaoui, A; Khannoussi, W; Kharrasse, G; Belefquih, B; Lemnouer, A; Ismaili, Z; Elouennass, M

2017-06-01

Saccharomyces cerevisiae is a cosmopolitan yeast, widely used in agro-alimentary and pharmaceutical industry. Its impact in human pathology is rare, but maybe still underestimated compared to the real situation. This yeast is currently considered as an emerging and opportunistic pathogen. Risk factors are immunosuppression and intravascular device carrying. Fungemias are the most frequent clinical forms. We report the first case of S. cerevisiae invasive infection described in Morocco, and to propose a review of the literature cases of S. cerevisiae infections described worldwide. A 77-year-old patient, with no notable medical history, who was hospitalized for a upper gastrointestinal stenosis secondary to impassable metastatic gastric tumor. Its history was marked by the onset of septic shock, with S. cerevisiae in his urine and in his blood, with arguments for confirmation of invasion: the presence of several risk factors in the patient, positive direct microbiological examination, abundant and exclusive culture of S. cerevisiae from clinical samples. Species identification was confirmed by the study of biochemical characteristics of the isolated yeast. Confirmation of S. cerevisiae infection requires a clinical suspicion in patients with risk factors, but also a correct microbiological diagnosis. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Low clinical diagnostic accuracy of early vs advanced Parkinson disease: clinicopathologic study.

PubMed

Adler, Charles H; Beach, Thomas G; Hentz, Joseph G; Shill, Holly A; Caviness, John N; Driver-Dunckley, Erika; Sabbagh, Marwan N; Sue, Lucia I; Jacobson, Sandra A; Belden, Christine M; Dugger, Brittany N

2014-07-29

Determine diagnostic accuracy of a clinical diagnosis of Parkinson disease (PD) using neuropathologic diagnosis as the gold standard. Data from the Arizona Study of Aging and Neurodegenerative Disorders were used to determine the predictive value of a clinical PD diagnosis, using 2 clinical diagnostic confidence levels, PossPD (never treated or not clearly responsive) and ProbPD (responsive to medications). Neuropathologic diagnosis was the gold standard. Based on first visit, 9 of 34 (26%) PossPD cases had neuropathologically confirmed PD while 80 of 97 (82%) ProbPD cases had confirmed PD. PD was confirmed in 8 of 15 (53%) ProbPD cases with <5 years of disease duration and 72 of 82 (88%) with ≥5 years of disease duration. Using final diagnosis at time of death, 91 of 107 (85%) ProbPD cases had confirmed PD. Clinical variables that improved diagnostic accuracy were medication response, motor fluctuations, dyskinesias, and hyposmia. Using neuropathologic findings of PD as the gold standard, this study establishes the novel findings of only 26% accuracy for a clinical diagnosis of PD in untreated or not clearly responsive subjects, 53% accuracy in early PD responsive to medication (<5 years' duration), and >85% diagnostic accuracy of longer duration, medication-responsive PD. Caution is needed when interpreting clinical studies of PD, especially studies of early disease that do not have autopsy confirmation. The need for a tissue or other diagnostic biomarker is reinforced. This study provides Class II evidence that a clinical diagnosis of PD identifies patients who will have pathologically confirmed PD with a sensitivity of 88% and specificity of 68%. © 2014 American Academy of Neurology.

Metastatic Renal Cell Carcinoma Masquerading as Jugular Foramen Paraganglioma: A Role for Novel Magnetic Resonance Imaging.

PubMed

Thomas, Andrew J; Wiggins, Richard H; Gurgel, Richard K

2017-08-01

To describe a case of metastatic renal cell carcinoma (RCC) masquerading as a jugular foramen paraganglioma (JP). To compare imaging findings between skull base metastatic RCC and histologically proven paraganglioma. A case of unexpected metastatic skull base RCC is reviewed. Computed tomography (CT) and magnetic resonance imaging (MRI) were compared between 3 confirmed cases of JP and our case of metastatic RCC. Diffusion-weighted MRI (DW-MRI) sequences and computed apparent diffusion coefficient (ADC) values were compared between these entities. A 55-year-old man presents with what appears clinically and radiographically to be JP. The tumor was resected, then discovered on postoperative pathology to be metastatic RCC. Imaging was retrospectively compared between 3 histologically confirmed cases of JP and our case of skull base RCC. The RCC metastasis was indistinguishable from JP on CT and traditional MRI but distinct by ADC values calculated from DW-MRI. Metastatic RCC at the skull base may mimic the clinical presentation and radiographic appearance of JP. The MRI finding of flow voids is seen in both paraganglioma and metastatic RCC. Diffusion-weighted MRI is able to distinguish these entities, highlighting its potential utility in distinguishing skull base lesions.

[Fetus in fetu: report of 2 cases and analysis of the literature].

PubMed

Montupet, P; Sinico, M; Soulier, Y; Soulier, A; Mulliez, N; Cotte, C; Gauthier, F; Valayer, J

1984-01-01

Foetus in foetu is a very unusual cause of abdominal mass in the infancy. Twenty cases only have been quoted in the literature. Two others cases are added, concerning two girls: a three months infant, second born from a genuine twin pregnancy, and a four weeks newborn whose the mass was discovered before the birth, on routine ultrasonography. In together, the diagnosis was made in operating room, then confirmed by pathologic studies. Literature data are recorded, and the difference between teratomas and foetus in foetu is point. The pathogeny remains obscure. It could result from the inclusion of a parasite twin in his bearer, become during embryologic stage of the delimitation.

Lung Metastasis in a Case of Recurrent Poorly Differentiated Leiomyosarcoma of the Bartholin Gland: A Case Report and Review of the Literature

PubMed Central

Alfieri, Joanne

2016-01-01

Vulvar neoplasms represent four percent of all gynecological cancers. While most cases of vulvar neoplasms are benign, two percent of patients present with malignant disease. We present the case of a 37-year-old premenopausal female who presented to an outside institution with a lump in her left vulva, which had progressively enlarged to the size of an egg. A wide local excision of the left vulva was performed, and the pathology revealed a high-grade sarcoma, not otherwise specified (NOS), with negative margins. Imaging showed enlarged bilateral external iliac lymph nodes, likely metastatic. After discussion at a multidisciplinary gynecology oncology tumor board, she was treated with gemcitabine/docetaxel chemotherapy, followed by a left inguinal lymph node dissection and a left radical vulvectomy after being referred to our centre. The final pathology at that time showed a residual sarcoma of 3.5 mm in the left vulva with no lympho-vascular invasion (LVI) and negative margins, with the closest, laterally, at 2 mm. A total of three lymph nodes were negative. She received additional chemotherapy postoperatively. Approximately one year later, she returned to her gynecologist with a 1 cm mass on the left vulva. She underwent a left hemi-vulvectomy and lymph node dissection, and pathology confirmed the presence of a high-grade sarcoma with close margins. She received adjuvant radiotherapy. Three months later, she presented with persistent cough and pneumonia. Imaging revealed a 10 cm lung mass, which was believed to be metastasis from the vulva. This was confirmed with biopsy and was completely resected. Any mass in the Bartholin gland area should be investigated carefully. Poorly differentiated vulvar leiomyosarcoma in the Bartholin gland can recur locally but may also lead to distant metastasis. Despite surgical and systemic treatment, as well as adjuvant radiation, the tumor recurred. Due to the rarity of this condition, there are no clear recommendations for treatment of this disease. To our knowledge, this is the first report of vulvar leiomyosarcoma of the Bartholin gland with metastasis to the lung. PMID:27158579

Rates of Amyloid Imaging Positivity in Patients With Primary Progressive Aphasia.

PubMed

Santos-Santos, Miguel A; Rabinovici, Gil D; Iaccarino, Leonardo; Ayakta, Nagehan; Tammewar, Gautam; Lobach, Iryna; Henry, Maya L; Hubbard, Isabel; Mandelli, Maria Luisa; Spinelli, Edoardo; Miller, Zachary A; Pressman, Peter S; O'Neil, James P; Ghosh, Pia; Lazaris, Andreas; Meyer, Marita; Watson, Christa; Yoon, Soo Jin; Rosen, Howard J; Grinberg, Lea; Seeley, William W; Miller, Bruce L; Jagust, William J; Gorno-Tempini, Maria Luisa

2018-03-01

The ability to predict the pathology underlying different neurodegenerative syndromes is of critical importance owing to the advent of molecule-specific therapies. To determine the rates of positron emission tomography (PET) amyloid positivity in the main clinical variants of primary progressive aphasia (PPA). This prospective clinical-pathologic case series was conducted at a tertiary research clinic specialized in cognitive disorders. Patients were evaluated as part of a prospective, longitudinal research study between January 2002 and December 2015. Inclusion criteria included clinical diagnosis of PPA; availability of complete speech, language, and cognitive testing; magnetic resonance imaging performed within 6 months of the cognitive evaluation; and PET carbon 11-labeled Pittsburgh Compound-B or florbetapir F 18 brain scan results. Of 109 patients referred for evaluation of language symptoms who underwent amyloid brain imaging, 3 were excluded because of incomplete language evaluations, 5 for absence of significant aphasia, and 12 for presenting with significant initial symptoms outside of the language domain, leaving a cohort of 89 patients with PPA. Clinical, cognitive, neuroimaging, and pathology results. Twenty-eight cases were classified as imaging-supported semantic variant PPA (11 women [39.3%]; mean [SD] age, 64 [7] years), 31 nonfluent/agrammatic variant PPA (22 women [71.0%]; mean [SD] age, 68 [7] years), 26 logopenic variant PPA (17 women [65.4%]; mean [SD] age, 63 [8] years), and 4 mixed PPA cases. Twenty-four of 28 patients with semantic variant PPA (86%) and 28 of 31 patients with nonfluent/agrammatic variant PPA (90%) had negative amyloid PET scan results, while 25 of 26 patients with logopenic variant PPA (96%) and 3 of 4 mixed PPA cases (75%) had positive scan results. The amyloid positive semantic variant PPA and nonfluent/agrammatic variant PPA cases with available autopsy data (2 of 4 and 2 of 3, respectively) all had a primary frontotemporal lobar degeneration and secondary Alzheimer disease pathologic diagnoses, whereas autopsy of 2 patients with amyloid PET-positive logopenic variant PPA confirmed Alzheimer disease. One mixed PPA patient with a negative amyloid PET scan had Pick disease at autopsy. Primary progressive aphasia variant diagnosis according to the current classification scheme is associated with Alzheimer disease biomarker status, with the logopenic variant being associated with carbon 11-labeled Pittsburgh Compound-B positivity in more than 95% of cases. Furthermore, in the presence of a clinical syndrome highly predictive of frontotemporal lobar degeneration pathology, biomarker positivity for Alzheimer disease may be associated more with mixed pathology rather than primary Alzheimer disease.

Enterobius vermicularis infection with tuboovarian abscess and peritonitis occurring during pregnancy.

PubMed

Craggs, Barbara; De Waele, Elisabeth; De Vogelaere, Kristel; Wybo, Ingrid; Laubach, Monika; Hoorens, Anne; De Waele, Boudewijn

2009-12-01

Extraintestinal Enterobius vermicularis infections are rare but may occasionally affect the female genital tract. Although mostly asymptomatic or causing minor clinical problems, they may lead to severe infectious complications. Case report and review of the pertinent English language literature. A 31-year-old, 30-week-pregnant female was admitted with a clinical suspicion of appendicitis. At surgery, the appendix appeared normal, but generalized peritonitis of unclear origin was present. Eggs of Enterobius vermicularis were found upon microbiological and pathological examination. Because of persisting infectious disease, the patient underwent an elective caesarean section, and at that time the diagnosis of a right tuboovarian abscess was made, and salpingo-oophorectomy was performed. The pathology report confirmed the diagnosis of an E. vermicularis salpingo-oophoritis. This case was extraordinary because of a combination of tuboovarian abscess and generalized peritonitis with E. vermicularis infection occurring during late pregnancy. Ectopic enterobiasis should be considered in the differential diagnosis of pelvic infections of gynecological origin.

[The Value of High Frequency Color Doppler Ultrasonography in the Diagnosis of Solid Skin Tumorsa-a Preliminary Study].

PubMed

Zhong, Lin; Tang, Yuan-Jiao; Yang, Yu-Jia; Qiu, Li

2017-01-01

To explore the value of high frequency color doppler ultrasonography in differentiating benign and malignant skin solid tumors. Clinical and ultrasonic data of cutaneous solid tumors confirmed by pathology in our hospital were collected. The differences in clinical and sonographic features between benign and malignant tumors were statistically analyzed. A total of 512 patients, involving 527 cases of skin solid tumors, were enrolled in this study. The ultrasonic detected 99.43% of the cases, with 99.02% accuracy in locating the lesions. The benign and malignant tumors showed differences in patient age, location, multiple occurance, location and depth, surface skin condition, tumor size, echo, morphology, uniformity, calcification, blood flow status, tumor rear area and peripheral echo, and pathological requests ( P <0.05). High frequency ultrasound has excellent detection rate of skin tumors, which can locate invasion depth of skin accurately. Benign and malignant skin tumors show differences in a number of clinical and ultrasound features.

Uterine artery pseudoaneurysm in the setting of deep endometriosis: an uncommon cause of hemoperitoneum in pregnancy.

PubMed

Feld, Zoe; Rowen, Tami; Callen, Andrew; Goldstein, Ruth; Poder, Liina

2018-02-01

Uterine, ovarian, and placental pathologies are among the differential considerations for a pregnant woman presenting with abdominal and pelvic pain. Imaging plays a key role in the initial work-up of these patients. Sonography is often the first line test; however, evaluation of pelvic pathology can be limited in the gravid state, especially in mid- or late-term pregnancy. We present a case of a pregnant woman who came to the emergency room at 25 weeks with acute abdominal and pelvic pain. Both ultrasound and MR imaging findings revealed intraperitoneal hemorrhage, initially of unknown origin, as well as endometriomas and deep endometriosis. Only postpartum imaging confirmed a uterine artery pseudoaneurysm (PSA) presumably due to decidual reaction in deep endometriosis. We speculate the intraperitoneal hemorrhage was subsequently due to the PSA. This case demonstrates that if hemorrhage is not recognized promptly, it can lead to hemodynamic instability, as well as premature labor and delivery.

Polymerase chain reaction-based clonality testing in tissue samples with reactive lymphoproliferations: usefulness and pitfalls. A report of the BIOMED-2 Concerted Action BMH4-CT98-3936.

PubMed

Langerak, A W; Molina, T J; Lavender, F L; Pearson, D; Flohr, T; Sambade, C; Schuuring, E; Al Saati, T; van Dongen, J J M; van Krieken, J H J M

2007-02-01

Lymphoproliferations are generally diagnosed via histomorphology and immunohistochemistry. Although mostly conclusive, occasionally the differential diagnosis between reactive lesions and malignant lymphomas is difficult. In such cases molecular clonality studies of immunoglobulin (Ig)/T-cell receptor (TCR) rearrangements can be useful. Here we address the issue of clonality assessment in 106 histologically defined reactive lesions, using the standardized BIOMED-2 Ig/TCR multiplex polymerase chain reaction (PCR) heteroduplex and GeneScan assays. Samples were reviewed nationally, except 10% random cases and cases with clonal results selected for additional international panel review. In total 75% (79/106) only showed polyclonal Ig/TCR targets (type I), whereas another 15% (16/106) represent probably polyclonal cases, with weak Ig/TCR (oligo)clonality in an otherwise polyclonal background (type II). Interestingly, in 10% (11/106) clear monoclonal Ig/TCR products were observed (types III/IV), which prompted further pathological review. Clonal cases included two missed lymphomas in national review and nine cases that could be explained as diagnostically difficult cases or probable lymphomas upon additional review. Our data show that the BIOMED-2 Ig/TCR multiplex PCR assays are very helpful in confirming the polyclonal character in the vast majority of reactive lesions. However, clonality detection in a minority should lead to detailed pathological review, including close interaction between pathologist and molecular biologist.

A primary intestinal lymphangiectasia patient diagnosed by capsule endoscopy and confirmed at surgery: A case report

PubMed Central

Fang, You-Hong; Zhang, Bing-Ling; Wu, Jia-Guo; Chen, Chun-Xiao

2007-01-01

Intestinal lymphangiectasia (IL) is a rare disease characterized by dilated lymphatic vessles in the intestinal wall and small bowel mesentery which induce loss of protein and lymphocytes into bowel lumen. Because it most often occurs in the intestine and cannot be detected by upper gastroendoscopy or colonoscopy, and the value of common image examinations such as X-ray and computerized tomography (CT) are limited, the diagnosis of IL is difficult, usually needing the help of surgery. Capsule endoscopy is useful in diagnosing intestinal diseases, such as IL. We here report a case of IL in a female patient who was admitted for the complaint of recurrent edema accompanied with diarrhea and abdominal pain over the last twenty years, and aggravated ten days ago. She was diagnosed by M2A capsule endoscopy as a primary IL and confirmed by surgical and pathological examination. PMID:17465517

A primary intestinal lymphangiectasia patient diagnosed by capsule endoscopy and confirmed at surgery: a case report.

PubMed

Fang, You-Hong; Zhang, Bing-Ling; Wu, Jia-Guo; Chen, Chun-Xiao

2007-04-21

Intestinal lymphangiectasia (IL) is a rare disease characterized by dilated lymphatic vessles in the intestinal wall and small bowel mesentery which induce loss of protein and lymphocytes into bowel lumen. Because it most often occurs in the intestine and cannot be detected by upper gastroendoscopy or colonoscopy, and the value of common image examinations such as X-ray and computerized tomography (CT) are limited, the diagnosis of IL is difficult, usually needing the help of surgery. Capsule endoscopy is useful in diagnosing intestinal diseases, such as IL. We here report a case of IL in a female patient who was admitted for the complaint of recurrent edema accompanied with diarrhea and abdominal pain over the last twenty years, and aggravated ten days ago. She was diagnosed by M2A capsule endoscopy as a primary IL and confirmed by surgical and pathological examination.

Pheochromocytoma and pregnancy: A case report and review.

PubMed

Santos, Davi Rettori Pardo Dos; Barbisan, Cinthia Callegari; Marcellini, Claudio; dos Santos, Rubia Marina Vieira Rettori

2015-01-01

Pheochromocytoma is a catecholamine-producing adrenal tumor, being a rare cause of hypertension in pregnancy. It's prevalence in hypertensive patients is 0.2%, and 0.002% of pregnancies. We follow hypertensive pregnant 24 year old on her third pregnancy, admitted to 33 weeks with hypertensive emergency cesarean section indicated by fetal distress evolving with acute pulmonary edema in the post-partum period. Indicated laparoscopy after 13 days for acute abdominal pain, with no significant finding. In the postoperative, due a severe and resistant hypertension, suspected of pheochromocytoma and confirmed by biochemical tests and imaging. Performed unilateral adrenelectomia with cure of hypertension. The pathology and immunohistochemistry confirmed the diagnosis. We conclude that atypical cases of hypertension in pregnancy should be investigated early and differentiated pre-eclampsia. Despite the low prevalence, pheochromocytoma in pregnancy increases fetal maternal morbidity and mortality and the early recognition and treatment drastically change their outcome.

Cluster of wound botulism in California: clinical, electrophysiologic, and pathologic study.

PubMed

Maselli, R A; Ellis, W; Mandler, R N; Sheikh, F; Senton, G; Knox, S; Salari-Namin, H; Agius, M; Wollmann, R L; Richman, D P

1997-10-01

Over a period of 15 months we have seen 6 patients with long-standing history of subcutaneous heroin injections who experienced acute blurred vision, dysphagia, dysarthria, and generalized weakness. Decreased or absent deep tendon reflexes, pupillary abnormalities, incremental responses to fast repetitive nerve stimulation, and positive serology for Clostridia botulinum toxin A were found, but not in all cases. Muscle biopsies showed variable signs of neurogenic atrophy. In vitro electrophysiology studies revealed decreased end-plate potentials quantal content, confirming the presynaptic nature of the disorder. Mechanical ventilation was required in 5 patients. Half of the patients were treated with polyvalent antitoxiin. Prognosis was favorable, though recovery was slow. In conclusion, acute bulbar weakness with visual symptoms in patients with subcutaneous heroin abuse strongly suggets the possibility of wound botulism. High diagnostic suspicion combined with histology and in vitro electrophysiology confirmation of presynaptic failure, especially in seronegative cases, may significantly improve morbidity.

A rare case of isolated wound implantation of colorectal adenocarcinoma complicating an incisional hernia: case report and review of the literature

PubMed Central

Chandra, Aninda; Lee, Lester; Hossain, Fahad; Johal, Harnaik

2008-01-01

Background The reported case illustrates an instance of colonic adenocarcinoma presenting as an isolated tumour 3 1/2 years after open surgery. The presentation was in some respects unique as it was complicated by an incisional hernia and occurred in the anterior abdominal wall. A literature review was performed. Case presentation An 83 year old lady initially underwent an extended right open hemicolectomy for a mid-transverse colonic adenocarcinoma (T4N2M0). No adjacent structures were involved. After adjuvant chemotherapy, she was kept under regular surveillance. A CT scan and colonoscopy at one year were normal. At 18 months investigations including an ultrasound scan of the liver and a radioisotope bone scan were all negative. Over three and half years later the patient presented with an incisional hernia. Repeat CT scan and tumour markers were reported as negative. At operation, a mass was found within the anterior abdominal wall complicating the incisional hernia. This mass was widely resected and a laparotomy performed. Histology confirmed an adenocarcinoma of colonic origin extending to one of the lateral margins. A post-operative PET scan confirmed the absence of intra-abdominal pathology. Conclusion The literature regarding recurrence of colonic tumours after open surgery reports low incidences of this occurring within abdominal incisions. The literature indicates prognosis is poor, but the numbers are small and distinction is often not made between isolated recurrence and those with other sites of tumour recurrence. In order to avoid missing isolated wound implantation, careful consideration should be given to those who present with new pathology related to previous cancer surgery incisions, both clinically and radiologically. PMID:18201386

Primary Pulmonary Ewing's Sarcoma/Primitive Neuroectodermal Tumor in a 67-year-old Man

PubMed Central

Lee, Yoon Young; Kim, Do Hoon; Lee, Ji Hye; Choi, Jong Sang; In, Kwang Ho; Oh, Yu Whan; Cho, Kyung Hwan

2007-01-01

Extraskeletal Ewing's sarcoma (EES) is a branch of neuroectodermal tumor (PNET), which is very rare soft tissue sarcoma. We report a case of EES/PNET arising is the lung of a 67-yr-old man. Computed tomography, bone scintigraphy, and positron emission tomography confirmed the mass to have a primary pulmonary origin. The mass showed positive reactivity in the Periodic Acid Schiff (PAS) stain and MIC-2 immunoreactivity in immunohistochemical stain. Fluorescence in situ hybridization (FISH) was performed, which revealed an EWSR1 (Ewing sarcoma breakpoint region 1) 22q12 rearrangement. The diagnosis was confirmed both pathologically and genetically. The mass lesion was resected, and the patient is currently undergoing chemotherapy. PMID:17923745

Solitary kidney with renal artery aneurysm repaired by ex vivo reconstruction.

PubMed

Palcau, Laura; Gouicem, Djelloul; Joguet, Etienne; Cameliere, Lucie; Berger, Ludovic

2014-01-01

A 22-year-old pregnant female with pyelonephritis was found to have a 26-mm left renal artery aneurysm with unknown right kidney agenesis diagnosed by magnetic resonance imaging. Computed tomographic angiography with 3-dimensional reconstructions confirmed a saccular aneurysm localized at the bifurcation of the left posterior segmental artery. The patient ultimately underwent successful ex vivo left renal artery aneurysm repair with autotransplantation. Pathologic evaluation of the resected aneurysm confirmed the diagnosis of fibromuscular dysplasia. Fibromuscular dysplasia is the most common cause of renal artery stenosis and renovascular hypertension and can, in rare cases, be associated with the development of renal artery aneurysms. © The Author(s) 2014.

Gigapixel surface imaging of radical prostatectomy specimens for comprehensive detection of cancer-positive surgical margins using structured illumination microscopy

PubMed Central

Wang, Mei; Tulman, David B.; Sholl, Andrew B.; Kimbrell, Hillary Z.; Mandava, Sree H.; Elfer, Katherine N.; Luethy, Samuel; Maddox, Michael M.; Lai, Weil; Lee, Benjamin R.; Brown, J. Quincy

2016-01-01

Achieving cancer-free surgical margins in oncologic surgery is critical to reduce the need for additional adjuvant treatments and minimize tumor recurrence; however, there is a delicate balance between completeness of tumor removal and preservation of adjacent tissues critical for normal post-operative function. We sought to establish the feasibility of video-rate structured illumination microscopy (VR-SIM) of the intact removed tumor surface as a practical and non-destructive alternative to intra-operative frozen section pathology, using prostate cancer as an initial target. We present the first images of the intact human prostate surface obtained with pathologically-relevant contrast and subcellular detail, obtained in 24 radical prostatectomy specimens immediately after excision. We demonstrate that it is feasible to routinely image the full prostate circumference, generating gigapixel panorama images of the surface that are readily interpreted by pathologists. VR-SIM confirmed detection of positive surgical margins in 3 out of 4 prostates with pathology-confirmed adenocarcinoma at the circumferential surgical margin, and furthermore detected extensive residual cancer at the circumferential margin in a case post-operatively classified by histopathology as having negative surgical margins. Our results suggest that the increased surface coverage of VR-SIM could also provide added value for detection and characterization of positive surgical margins over traditional histopathology. PMID:27257084

Intraoperative Consultation and Macroscopic Handling: The International Society of Urological Pathology (ISUP) Testicular Cancer Consultation Conference Recommendations.

PubMed

Verrill, Clare; Perry-Keene, Joanna; Srigley, John R; Zhou, Ming; Humphrey, Peter A; Lopez-Beltran, Antonio; Egevad, Lars; Ulbright, Thomas M; Tickoo, Satish K; Epstein, Jonathan I; Compérat, Eva; Berney, Daniel M

2018-06-01

The International Society of Urological Pathology held a conference on issues in testicular and penile pathology in Boston in March 2015, which included a presentation by the testis macroscopic features working group. The presentation focused on current published guidance for macroscopic handling of testicular tumors and retroperitoneal lymph node dissections with a summary of results from an online survey of members preceding the conference. The survey results were used to initiate discussions, but decisions on practice were made by expert consensus rather than voting. The importance of comprehensive assessment at the time of gross dissection with confirmation of findings by microscopic assessment was underscored. For example, the anatomic landmarks denoting the distinction of hilar soft tissue invasion (pT2) from spermatic cord invasion (pT3 category) can only be determined by careful macroscopic assessment in many cases. Other recommendations were to routinely sample epididymis, rete testis, hilar soft tissue, and tunica vaginalis in order to confirm macroscopic invasion of these structures or if not macroscopically evident, to exclude subtle microscopic invasion. Tumors 2 cm or less in greatest dimension should be completely embedded. If the tumor is >2 cm in greatest dimension, 10 blocks or a minimum of 1 to 2 additional blocks per centimeter should be taken (whichever is greater).

Spinal dural arteriovenous fistulas: the most frequent vascular malformations of the spinal cord.

PubMed

Iglesias Gordo, J; Martínez García, R

Spinal dural arteriovenous fistulas are produced by direct communication between the arterial and venous systems of the spinal cord, causing hypertension in the latter with spinal cord dysfunction. It is a rare pathology with unknown etiology and non-specific clinical symptoms that usually results in a delayed diagnosis. Often radiologists are the first to guide the disease towards an adequate diagnosis. Characteristic findings can be seen through MR or MR angiography, and may even locate the fistula in a high percentage of cases, although the pathology must be confirmed by spinal angiography. There are two treatment modalities: endovascular and surgical therapy. Endovascular treatment has improved in recent years with the advantages of a less invasive approach and is therefore usually chosen as primary therapy. In this article we review the main clinical manifestations, imaging findings and treatment of this pathology. Copyright © 2017 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

Association of α-, β-, and γ-Synuclein With Diffuse Lewy Body Disease

PubMed Central

Nishioka, Kenya; Wider, Christian; Vilariño-Güell, Carles; Soto-Ortolaza, Alexandra I.; Lincoln, Sarah J.; Kachergus, Jennifer M.; Jasinska-Myga, Barbara; Ross, Owen A.; Rajput, Alex; Robinson, Christopher A.; Ferman, Tanis J.; Wszolek, Zbigniew K.; Dickson, Dennis W.; Farrer, Matthew J.

2016-01-01

Objective To determine the association of the genes that encode α-, β-, and γ-synuclein (SNCA, SNCB, and SNCG, respectively) with diffuse Lewy body disease (DLBD). Design Case-control study. Subjects A total of 172 patients with DLBD consistent with a clinical diagnosis of Parkinson disease dementia/dementia with Lewy bodies and 350 clinically and 97 pathologically normal controls. Interventions Sequencing of SNCA, SNCB, and SNCG and genotyping of single-nucleotide polymorphisms performed on an Applied Biosystems capillary sequencer and a Sequenom MassArray pLEX platform, respectively. Associations were determined using χ2 or Fisher exact tests. Results Initial sequencing studies of the coding regions of each gene in 89 patients with DLBD did not detect any pathogenic substitutions. Nevertheless, genotyping of known polymorphic variability in sequence-conserved regions detected several single-nucleotide polymorphisms in the SNCA and SNCG genes that were significantly associated with disease (P=.05 to <.001). Significant association was also observed for 3 single-nucleotide polymorphisms located in SNCB when comparing DLBD cases and pathologically confirmed normal controls (P=.03-.01); however, this association was not significant for the clinical controls alone or the combined clinical and pathological controls (P>.05). After correction for multiple testing, only 1 single-nucleotide polymorphism in SNCG (rs3750823) remained significant in all of the analyses (P=.05-.009). Conclusion These findings suggest that variants in all 3 members of the synuclein gene family, particularly SNCA and SNCG, affect the risk of developing DLBD and warrant further investigation in larger, pathologically defined data sets as well as clinically diagnosed Parkinson disease/dementia with Lewy bodies case-control series. PMID:20697047

Quantitative neuropathological study of Alzheimer-type pathology in the hippocampus: comparison of senile dementia of Alzheimer type, senile dementia of Lewy body type, Parkinson's disease and non-demented elderly control patients.

PubMed

Ince, P; Irving, D; MacArthur, F; Perry, R H

1991-12-01

A Lewy body dementing syndrome in the elderly has been recently described and designated senile dementia of Lewy body type (SDLT) on the basis of a distinct clinicopathological profile. The pathological changes seen in SDLT include the presence of cortical Lewy bodies (LB) frequently, but not invariably, associated with senile plaque (SP) formation. Whilst neocortical neurofibrillary tangles (NFT) are sparse or absent, a proportion of these cases show involvement of the temporal archicortex by lesions comprising Alzheimer-type pathology (ATP, i.e. NFT, SP and granulovacuolar degeneration [GVD]). Thus the relationship between SDLT and senile dementia of Alzheimer type (SDAT) is complex and controversial. In this study quantitative neuropathology was used to compare the intensity and distribution of ATP in the hippocampus and entorhinal cortex of 53 patients from 3 disease groups (SDLT, SDAT, Parkinson's disease (PD)) and a group of neurologically and mentally normal elderly control patients. For most brain areas examined the extent of ATP between the patient groups followed the trend SDAT greater than SDLT greater than PD greater than control. Statistical comparison of these groups revealed significant differences between the mean densities of NFT, SP and GVD although individual cases showed considerable variability. These results confirm additional pathological differences between SDAT and SDLT regarding the intensity of involvement of the temporal archicortex by ATP. Many patients with Lewy body disorders (LBdis) show a predisposition to develop ATP albeit in a more restricted distribution (e.g. low or absent neocortical NFT) and at lower densities than is found in SDAT. Some cases of SDLT show minimal SP and NFT formation in both neocortex and archicortex supporting previously published data distinguishing this group from Alzheimer's disease.

Progressive supranuclear palsy: neuronal and glial cytoskeletal pathology in the higher order processing autonomic nuclei of the lower brainstem.

PubMed

Rüb, U; Del Tredici, K; Schultz, C; de Vos, R A I; Jansen Steur, E N H; Arai, K; Braak, H

2002-02-01

The medial and lateral parabrachial nuclei (MPB, LPB), the gigantocellular reticular nucleus (GI), the raphes magnus (RMG) and raphes obscurus nuclei (ROB), as well as the intermediate reticular zone (IRZ) represent pivotal subordinate brainstem centres, all of which control autonomic functions. In this study, we investigated the occurrence and severity of the neuronal and glial cytoskeletal pathology in these six brainstem nuclei from 17 individuals with clinically diagnosed and neuropathologically confirmed progressive supranuclear palsy (PSP). The association between the severity of the pathology and the duration of the disease was investigated by means of correlation analysis. The brainstem nuclei in all of the PSP cases were affected by the neuronal cytoskeletal pathology, with the IRZ and GI regularly showing severe involvement, the MPB, RMG, and ROB marked involvement, and the LPB mild involvement. In the six nuclear greys studied, glial cells undergo alterations of their cytoskeleton on an irregular basis, whereby diseased oligodendrocytes predominantly presented as coiled bodies and affected astrocytes as thorn-shaped astrocytes. In all six nuclei, the severity of the neuronal or glial cytoskeletal pathology showed no correlation with the duration of PSP. In view of their functional role, the neuronal pathology in the nuclei studied offers a possible explanation for the autonomic dysfunctions that eventually develop in the course of PSP.

Segmental dilatation of the intestine.

PubMed

Ben Brahim, Mohamed; Belghith, Mohsen; Mekki, Mongi; Jouini, Riadh; Sahnoun, Lassaad; Maazoun, Kaies; Krichene, Imed; Golli, Mondher; Monastiri, Kamel; Nouri, Abdellatif

2006-06-01

The aim of this work is to discuss the pathogenesis of the segmental dilatation of the intestine (SDI) and to review its clinical presentation and the ways to confirm the diagnosis. Eight cases of pathologically proven SDI from 1987 to 2003 were reviewed and discussed. There were 7 newborns and a 1-year-old boy. Our patients are 5 boys and 3 girls. In all cases, the diagnosis was not suspected before surgery. Two patients presented with a low neonatal bowel obstruction. Six patients were operated for omphalocele, which was the most frequent associated malformation. The SDI involved the ileum in all patients. The treatment consisted on a resection of the dilated segment with an end-to-end anastomosis. Histological examination demonstrated the presence of ganglion cells in all cases. The muscular layer was hypertrophied in two cases and very thin in one case. A heterotopic gastric mucosa was observed in one case. No anomalies were observed in 5 cases. The postoperative course was uneventful in 6 cases with a mean follow-up of 5 years. Segmental intestinal dilatation is an exceptional pathology with an unknown etiology and a misleading clinical presentation. Several theories were proposed to explain this malformation; however, most authors are rather inclined to an embryological theory incriminating an extrinsic intrauterine intestinal compression. Most cases are neonatal discoveries. The clinical polymorphism and the lack of specificity of radiological investigations explain the difficulties to have a preoperative diagnosis. However, this difficulty is compensated by the favorable evolution after the resection of the dilated segment.

Creutzfeldt-Jakob Disease as a Cause of Cognitive Decline and Seizures in the Elderly: Diagnostic Pointers and Strategy for Investigation

PubMed Central

Williams, R.; Cresswell, F.; McClure, M.; Lane, R.

2011-01-01

Cognitive decline affects one in twenty people over the age of 65. There is often a paucity of clues as to the underlying pathology, and while the diagnosis will usually prove to be either Alzheimer's disease or vascular dementia, there may be clinical features suggesting rarer alternatives. This case of a 71-year-old lady with a 3-month history of progressive cognitive decline illustrates clinical features suggestive of Creutzfeltd-Jakob disease such as rapid decline in conscious level and myoclonic jerking. Diagnosis was confirmed by 3 means: (1) Electroencephalogram demonstrating periodic sharp wave complexes, (2) MRI brain showing cortical ribboning and high signal in the caudate nucleus, and (3) presence of protein S100 and protein14-3-3 in the cerebrospinal fluid. Postmortem brain histology confirmed a typical spongiform encephalopathy. Establishing an underlying aetiology is dementia is important not only for prognostic reasons but in order to detect potentially reversible causes. In cases of an atypical dementing illness our proposed investigations may assist in confirming or excluding underlying Creutzfeltd-Jakob disease. PMID:22194754

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

PubMed Central

Beecham, Gary W.; Dickson, Dennis W.; Scott, William K.; Martin, Eden R.; Schellenberg, Gerard; Nuytemans, Karen; Larson, Eric B.; Buxbaum, Joseph D.; Trojanowski, John Q.; Van Deerlin, Vivianna M.; Hurtig, Howard I.; Mash, Deborah C.; Beach, Thomas G.; Troncoso, Juan C.; Pletnikova, Olga; Frosch, Matthew P.; Ghetti, Bernardino; Foroud, Tatiana M.; Honig, Lawrence S.; Marder, Karen; Vonsattel, Jean Paul; Goldman, Samuel M.; Vinters, Harry V.; Ross, Owen A.; Wszolek, Zbigniew K.; Wang, Liyong; Dykxhoorn, Derek M.; Pericak-Vance, Margaret A.; Montine, Thomas J.; Leverenz, James B.; Dawson, Ted M.

2015-01-01

Objective: To minimize pathologic heterogeneity in genetic studies of Parkinson disease (PD), the Autopsy-Confirmed Parkinson Disease Genetics Consortium conducted a genome-wide association study using both patients with neuropathologically confirmed PD and controls. Methods: Four hundred eighty-four cases and 1,145 controls met neuropathologic diagnostic criteria, were genotyped, and then imputed to 3,922,209 variants for genome-wide association study analysis. Results: A small region on chromosome 1 was strongly associated with PD (rs10788972; p = 6.2 × 10−8). The association peak lies within and very close to the maximum linkage peaks of 2 prior positive linkage studies defining the PARK10 locus. We demonstrate that rs10788972 is in strong linkage disequilibrium with rs914722, the single nucleotide polymorphism defining the PARK10 haplotype previously shown to be significantly associated with age at onset in PD. The region containing the PARK10 locus was significantly reduced from 10.6 megabases to 100 kilobases and contains 4 known genes: TCEANC2, TMEM59, miR-4781, and LDLRAD1. Conclusions: We confirm the association of a PARK10 haplotype with the risk of developing idiopathic PD. Furthermore, we significantly reduce the size of the PARK10 region. None of the candidate genes in the new PARK10 region have been previously implicated in the biology of PD, suggesting new areas of potential research. This study strongly suggests that reducing pathologic heterogeneity may enhance the application of genetic association studies to PD. PMID:25663231

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.

PubMed

Beecham, Gary W; Dickson, Dennis W; Scott, William K; Martin, Eden R; Schellenberg, Gerard; Nuytemans, Karen; Larson, Eric B; Buxbaum, Joseph D; Trojanowski, John Q; Van Deerlin, Vivianna M; Hurtig, Howard I; Mash, Deborah C; Beach, Thomas G; Troncoso, Juan C; Pletnikova, Olga; Frosch, Matthew P; Ghetti, Bernardino; Foroud, Tatiana M; Honig, Lawrence S; Marder, Karen; Vonsattel, Jean Paul; Goldman, Samuel M; Vinters, Harry V; Ross, Owen A; Wszolek, Zbigniew K; Wang, Liyong; Dykxhoorn, Derek M; Pericak-Vance, Margaret A; Montine, Thomas J; Leverenz, James B; Dawson, Ted M; Vance, Jeffery M

2015-03-10

To minimize pathologic heterogeneity in genetic studies of Parkinson disease (PD), the Autopsy-Confirmed Parkinson Disease Genetics Consortium conducted a genome-wide association study using both patients with neuropathologically confirmed PD and controls. Four hundred eighty-four cases and 1,145 controls met neuropathologic diagnostic criteria, were genotyped, and then imputed to 3,922,209 variants for genome-wide association study analysis. A small region on chromosome 1 was strongly associated with PD (rs10788972; p = 6.2 × 10(-8)). The association peak lies within and very close to the maximum linkage peaks of 2 prior positive linkage studies defining the PARK10 locus. We demonstrate that rs10788972 is in strong linkage disequilibrium with rs914722, the single nucleotide polymorphism defining the PARK10 haplotype previously shown to be significantly associated with age at onset in PD. The region containing the PARK10 locus was significantly reduced from 10.6 megabases to 100 kilobases and contains 4 known genes: TCEANC2, TMEM59, miR-4781, and LDLRAD1. We confirm the association of a PARK10 haplotype with the risk of developing idiopathic PD. Furthermore, we significantly reduce the size of the PARK10 region. None of the candidate genes in the new PARK10 region have been previously implicated in the biology of PD, suggesting new areas of potential research. This study strongly suggests that reducing pathologic heterogeneity may enhance the application of genetic association studies to PD. © 2015 American Academy of Neurology.

Long-term utility and complication profile of open craniotomy for biopsy in patients with idiopathic encephalitis.

PubMed

Abdullah, Kalil G; Li, Yin; Agarwal, Prateek; Nayak, Nikhil R; Thawani, Jayesh P; Balu, Ramani; Lucas, Timothy H

2017-03-01

Neurosurgeons are often asked to perform open biopsy for diagnosis of encephalitis after medical investigations are non-diagnostic. These patients may be critically ill with multiple comorbidities. Patients and their families often request data regarding the success rates and complication profile of biopsy, but minimal literature exists in this area. Retrospective chart review of all patients undergoing open brain biopsy (burr hole or craniotomy) for encephalitis refractory to medical diagnosis between January 2009 and December 2013 was undertaken. Pathology records and outpatient follow-up were reviewed to determine most recent clinical status of each patient. A total of 59 patients were included with mean follow up of 20months. The average age at biopsy was 55years. The most common unconfirmed diagnoses leading to biopsy were vasculitis (44%), neoplasm (27%), infection (12%), autoimmune (12%), amyloidosis (5%). Tissue pathology was diagnostic in 42% of all cases. Overall, biopsy confirmed the preoperative diagnosis in 46% of cases and refuted the preoperative leading diagnosis in 25% of cases. At last follow-up, the tissue pathology resulted in a medical treatment change in 25% of cases. There was a 14% major neurological complication rate (postoperative stroke, hemorrhage, or neurological deficit) and 9% cardiopulmonary complication rate (delayed extubation and re-intubation) attributable to surgical intervention. In this limited series, diagnostic utility of biopsy in patients with idiopathic encephalitis is less than 50% and the major complication rate is 23%. Patients and providers must be counseled accordingly and weigh the risks and benefits of open biopsy for encephalitis cautiously. Copyright © 2016 Elsevier Ltd. All rights reserved.

[Histopathological diagnostic concordance in bone and soft tissue sarcomas between two comprehensive cancer centers from eastern and western Europe: a collaborative experience].

PubMed

Somcutian, Oana; Buiga, Rares; Galatir, Mihaela; Tudor Eniu, Dan; Rachieru, Claudiu; Coza, Daniela; Terrier, Philippe

2015-01-01

This study aims to assess the degree of concordance of histological diagnosis of bone and soft tissue sarcomas between a Comprehensive Cancer Center (CCC) of Eastern Europe - not specialized in this area of pathology - and an important CCC of Western Europe, which is one of the coordinators of a clinical reference network in sarcoma pathology. The goal is to have an overview of the sarcomatous pathology in a region of Eastern Europe and to discover diagnostic discrepancies between the two centers, while determining their cause. The initial diagnosis was compared with the revised diagnosis on 110 specimens from 88 patients with bone or soft tissue sarcomas from East-European CCC, in a one-year period of time. Complete diagnostic agreement was observed in 55 cases (62.5%), a partial agreement in 23 cases (26.1%) and a major disagreement in 10 cases (11.4%). Major discrepancies of the histological type was observed in only 3 cases (3.4%): one case of discordance benign/malignant and 2 cases of discordance mesenchymal/non mesenchymal. Minor histological discrepancies - not affecting the management of the patient - were observed in 18 cases (20.4%). A major discordance in grading - potentially changing the management of the patient - was noted in 7 cases (7.9%), and a minor discrepancy in 5 cases (5.7%). Some histological types were clearly overdiagnosed, like "adult fibrosarcomas" and "malignant peripheral nerve sheet tumors" (MPNST), mostly converted after the audit into "undifferentiated spindle cell sarcomas" or other types of sarcomas. Some "unclassified" sarcomas and "undifferentiated pleomorphic sarcomas" could be re-classified with the aid of an extensive panel of antibodies. Overall, immunohistochemistry was responsible, but not in exclusivity, for half of the minor discrepancies, and for 2 out of 3 cases of major histological discrepancies. Otherwise, the main cause of discrepancies was the difficulties in the interpretation of the morphology. Molecular biology was decisive in one case. Most grading discrepancies resulted from the appreciation of the mitotic index. The profile of the sarcomatous pathology in the northwest region of Romania does not appear to differ significantly from other parts of Europe or the world, but a prospective epidemiological study would be necessary to confirm this assessment. The expansion of immunohistochemical antibody panel, the over-specialization of pathologists and, in the future, the establishment of a national network of referral centers in sarcoma pathology, are required for a high level of histological diagnosis in Eastern Europe. A periodic external audit, continuing this trans-European collaboration between the two centers, would be beneficial for monitoring progress. Copyright © 2014. Published by Elsevier Masson SAS.

[Laryngeal papillomatosis: A rare cause of dysphonia in the child. Case series].

PubMed

Cuestas, Giselle; Rodríguez, Verónica; Doormann, Flavia; Bellia Munzón, Patricio; Bellia Munzón, Gastón

2018-06-01

Juvenile laryngeal papillomatosis is an uncommon disease caused by human papilloma virus, mainly types 6 and 11. It is the most common benign laryngeal tumor in children. This condition should be suspected in any children with persistent and progressive dysphonia with or without stridor and respiratory distress. Flexible laryngoscopy under local anesthesia allows to visualize the typical wart-like lesions. The diagnosis is confirmed by pathological anatomy. Existing treatment is palliative and consists mainly of the surgical excision of the papillomas to maintain the airway without obstruction and to improve the quality of the voice, but it has a high rate of relapse. We present 20 patients with juvenile laryngeal papillomatosis. We describe the clinical manifestations, the diagnostic methods and the treatment of this pathology. Sociedad Argentina de Pediatría.

The value of naked eye examination of biopsied lymph nodes in the diagnosis of tuberculous lymphadenitis.

PubMed

Bem, C

1996-01-01

Tuberculous lymphadenitis is common in Central Africa, where diagnosis by histological examination of a biopsied node is often delayed. In the present study, the naked eye appearance of the cut surface of 306 consecutive biopsied lymph nodes was compared with the histological diagnosis. One hundred and eight-eight nodes showed tuberculosis on histology (including two with coexisting second pathology). One hundred and forty-eight (79%) cases of tuberculous lymphadenitis (including both with coexisting second pathology) showed noncaseating tuberculomata or caseation visible on naked eye examination. Such signs were not seen in other nodes. Other signs were seen in another 18 (10%) tuberculous nodes. It is concluded that naked eye examination of nodes provides useful information for the diagnosis of tuberculous lymphadenitis, pending confirmation by histology.

Histopathology findings in patients presenting with menorrhagia: A study of 100 hysterectomy specimen

PubMed Central

Sawke, Nilima G.; Sawke, Gopal Krishna; Jain, Hanisha

2015-01-01

Background: Menorrhagia, by definition, is heavy cyclical blood loss in excess of 80 ml/month of menstrual period lasting longer than 7 days. There are many possible causes of heavy menstrual bleeding which include hormonal imbalance, fibroids, miscarriage or ectopic pregnancy, nonhormonal intrauterine device, adenomyosis, pelvic inflammatory disease, and rarely uterine, ovarian, or cervical cancer. Treatment depends on the causes of the menorrhagia. Hysterectomy is one of the several surgical procedures as definitive treatment. Objective: To determine the histopathologic spectrum of lesions associated with menorrhagia in different age groups. Study Design: This prospective descriptive study was conducted at the Department of Pathology, People's College of Medical Sciences and Research Centre, Bhopal. During the study period, 100 hysterectomy specimens were taken which were performed for the treatment of menorrhagia. Patients with menorrhagia in the age group of 30-50 years were selected after detailed history and fulfilling the inclusion criteria. Result: In our study, it was observed that maximum number of cases were in the age group of 41-50 years (n = 35) followed by the age group of 31-40 (n = 30). Out of 100 cases, 31% cases (n = 31) showed adenomyosis followed by leiomyomas 25% (n = 25), endometrial hyperplasia 23% (n = 23), and endometrial polyp 4% (n = 4). 11% cases (n = 11) showed dual pathology consisting of both adenomyosis and endometrial hyperplasia and 6% cases (n = 6) of leiomyoma with adenomyosis. Conclusion: Uterine adenomyosis and leiomyoma are the most common benign conditions found in hysterectomy specimens with peak incidence at 31-50 years. Patients having menorrhagia above 40 years should be screened for any endometrial pathology. Histopathology is mandatory for confirming diagnosis and the key to effective therapy and optimal outcome. PMID:26903755

Dynamic nonrobotic telemicroscopy via skype: A cost effective solution to teleconsultation

PubMed Central

Sirintrapun, Sahussapont J.; Cimic, Adela

2012-01-01

Context: Skype is a peer to peer software application that has been historically used for voice and video calls, instant messaging, and file transfer over the Internet. Few studies are available using Skype specifically for telepathology. Aims: Our aim is to show that dynamic nonrobotic teleconsultation is possible and even effective via means of a standard microscope camera capable of live acquisition, Skype, an established broad band internet connection, and experienced pathologists. Settings and Design: Both the consulting “sending” pathologist and consultant “receiving” pathologist are reasonably experienced general surgical pathologists at junior attending level with several years of experience in sign out. Forty-five cases were chosen encompassing a broad range of surgical pathology specimens. The cases were prospectively evaluated with the consultant diagnosis used as a preliminary pathologic impression with the final diagnosis being confirmation. Materials and Methods: Versions of Skype 5.0 and above were used along with established broadband internet connections, usually between academic medical institutions. Results: Forty of forty-five cases (89%) were essentially concordant. In four of forty-five cases (9%), the consulting impression gave a differential, but favored an entity which did not match the final diagnosis. Only one case (2%) did the consulting impression not match the final diagnosis; a discordant opinion. Conclusions: The image quality via Skype screen sharing option is excellent. Essentially no lag time was seen. We have shown in our small pilot study that Skype is an effective cost-efficient means for teleconsultation, particularly in the setting of entity-related differential diagnoses in surgical pathology and when both the consulting and consultant pathologists are reasonably experienced. PMID:23024887

North American Multicenter Volumetric CT Study for Clinical Staging of Malignant Pleural Mesothelioma: Feasibility and Logistics of Setting Up a Quantitative Imaging Study.

PubMed

Gill, Ritu R; Naidich, David P; Mitchell, Alan; Ginsberg, Michelle; Erasmus, Jeremy; Armato, Samuel G; Straus, Christopher; Katz, Sharyn; Patios, Demetrois; Richards, William G; Rusch, Valerie W

2016-08-01

Clinical tumor (T), node, and metastasis staging is based on a qualitative assessment of features defining T descriptors and has been found to be suboptimal for predicting the prognosis of patients with malignant pleural mesothelioma (MPM). Previous work suggests that volumetric computed tomography (VolCT) is prognostic and, if found practical and reproducible, could improve clinical MPM classification. Six North American institutions electronically submitted clinical, pathologic, and imaging data on patients with stages I to IV MPM to an established multicenter database and biostatistical center. Two reference radiologists blinded to clinical data independently reviewed the scans; calculated clinical T, node, and metastasis stage by standard criteria; performed semiautomated tumor volume calculations using commercially available software; and submitted the findings to the biostatistical center. Study end points included the feasibility of a multi-institutional VolCT network, concordance of independent VolCT assessments, and association of VolCT with pathological T classification. Of 164 submitted cases, 129 were evaluated by both reference radiologists. Discordant clinical staging of most cases confirmed the inadequacy of current criteria. The overall correlation between VolCT estimates was good (Spearman correlation 0.822), but some were significantly discordant. Root cause analysis of the most discordant estimates identified four common sources of variability. Despite these limitations, median tumor volume estimates were similar within subgroups of cases representing each pathological T descriptor and increased monotonically for each reference radiologist with increasing pathological T status. The good correlation between VolCT estimates obtained for most cases reviewed by two independent radiologists and qualitative association of VolCT with pathological T status combine to encourage further study. The identified sources of user error will inform design of a follow-up prospective trial to more formally assess interobserver variability of VolCT and its potential contribution to clinical MPM staging. Copyright © 2016 International Association for the Study of Lung Cancer. Published by Elsevier Inc. All rights reserved.

Radiculopathy in the setting of lumbar nerve root compression due to an extradural intraforaminal lipoma: a report of 3 cases.

PubMed

Loriaux, Daniel B; Adogwa, Owoicho; Gottfried, Oren N

2015-07-01

A true adult spinal lipoma is an exceedingly rare cause of lumbar compression neuropathy. Only 5 cases of true extradural intraforaminal lipomas have been documented in the medical literature. The diagnostic criteria and treatment guidelines for this specific lipoma have yet to be established. This report features 3 histologically confirmed cases of extradural intraforaminal spinal lipomas that recently presented to the authors' practice. In addition, the literature was surveyed to include the 5 previously reported cases of true adult extradural intraforaminal spinal lipomas. The consistency in presentation, response to surgical intervention, and postoperative recovery in these 8 cases supports surgical intervention at the time of diagnosis. The authors' findings support elevated clinical suspicion, efficient diagnosis based on MRI, and early surgical intervention for this rare pathological entity. All cases presented in this report were symptomatic and occurred in the absence of other significant pathologies such as general spinal epidural lipomatosis, intradural lesions, tethering, or severe degenerative stenosis or herniated discs. The clinical, neuroradiological, and histological findings characteristic of a true adult extradural intraforaminal lipoma are emphasized to differentiate this lesion from the more common etiologies for lumbar compression neuropathy. Heightened awareness and clinical suspicion for the focal, foraminal spinal lipoma as a cause of radiculopathy symptoms will enable more efficient diagnosis and treatment.

Contribution of MRI to clinically equivocal penile fracture cases.

PubMed

Türkay, Rüştü; Yenice, Mustafa Gürkan; Aksoy, Sema; Şeker, Gökhan; Şahin, Selçuk; İnci, Ercan; Tuğcu, Volkan; Taşcı, Ali İhsan

2016-11-01

Penile fracture is a surgical emergency defined as rupture of the tunica albuginea. Although most cases can be diagnosed with clinical evaluation, it has been stated in the literature that diagnosis in as many as 15% of cases can be challenging. In uncertain cases, imaging can help determine diagnosis. Present study included 20 cases where diagnosis could not be made with certainty and magnetic resonance imaging (MRI) was performed. MR images were examined for tunical rupture and accompanying pathologies. When rupture was observed, localization and length of rupture were noted. All patients underwent degloving surgery. All imaging findings were compared to surgical findings. MRI revealed 19 tunical ruptures. In 1 case, hematoma was seen with no sign of penile fracture. No urethral injuries were found. All MRI findings were confirmed during surgery. Performing MRI in clinically equivocal cases can provide crucial data to make precise diagnosis and improve patient management.

Subspecialty surgical pathologist's performances as triage pathologists on a telepathology-enabled quality assurance surgical pathology service: A human factors study

PubMed Central

Braunhut, Beth L.; Graham, Anna R.; Lian, Fangru; Webster, Phyllis D.; Krupinski, Elizabeth A.; Bhattacharyya, Achyut K.; Weinstein, Ronald S.

2014-01-01

Background: The case triage practice workflow model was used to manage incoming cases on a telepathology-enabled surgical pathology quality assurance (QA) service. Maximizing efficiency of workflow and the use of pathologist time requires detailed information on factors that influence telepathologists’ decision-making on a surgical pathology QA service, which was gathered and analyzed in this study. Materials and Methods: Surgical pathology report reviews and telepathology service logs were audited, for 1862 consecutive telepathology QA cases accrued from a single Arizona rural hospital over a 51 month period. Ten university faculty telepathologists served as the case readers. Each telepathologist had an area of subspecialty surgical pathology expertise (i.e. gastrointestinal pathology, dermatopathology, etc.) but functioned largely as a general surgical pathologist while on this telepathology-enabled QA service. They handled all incoming cases during their individual 1-h telepathology sessions, regardless of the nature of the organ systems represented in the real-time incoming stream of outside surgical pathology cases. Results: The 10 participating telepathologists’ postAmerican Board of pathology examination experience ranged from 3 to 36 years. This is a surrogate for age. About 91% of incoming cases were immediately signed out regardless of the subspecialty surgical pathologists’ area of surgical pathology expertise. One hundred and seventy cases (9.13%) were deferred. Case concurrence rates with the provisional surgical pathology diagnosis of the referring pathologist, for incoming cases, averaged 94.3%, but ranged from 88.46% to 100% for individual telepathologists. Telepathology case deferral rates, for second opinions or immunohistochemistry, ranged from 4.79% to 21.26%. Differences in concordance rates and deferral rates among telepathologists, for incoming cases, were significant but did not correlate with years of experience as a practicing pathologist. Coincidental overlaps of the area of subspecialty surgical pathology expertise with organ-related incoming cases did not influence decisions by the telepathologists to either defer those cases or to agree or disagree with the referring pathologist's provisional diagnoses. Conclusions: Subspecialty surgical pathologists effectively served as general surgical pathologists on a telepathology-based surgical pathology QA service. Concurrence rates with incoming surgical pathology report diagnoses, and case deferral rates, varied significantly among the 10 on-service telepathologists. We found no evidence that the higher deferral rates correlated with improving the accuracy or quality of the surgical pathology reports. PMID:25057432

Report of a rare case and review of adult intestinal duplication at the opposite side of mesenteric margin.

PubMed

Huang, Zhi-Hao; Wan, Zi-Hao; Vikash, Vikash; Vikash, Sindhu; Jiang, Cong-Qing

2018-01-01

To study the previously discovered clinical entity of adult intestinal duplication and its treatment, and propose an extension to its existing classification. We report the case of an adult male with abdominal pain, constipation and vomiting. This patient underwent surgical separation of adhesions, reduction of torsion and intestinal decompression. Postoperative pathological findings confirmed the rare diagnosis of intestinal duplication. Adult intestinal duplication is quite rare. Its clinical manifestations are nonspecific. From this finding of intestinal duplication originating at the opposite side of the mesenteric margin, a further extension of the existing anatomical classification is proposed.

Non puerperal uterine inversion in a young female- a case report.

PubMed

Rathod, Setu; Samal, Sunil Kumar; Pallavee, P; Ghose, Seetesh

2014-09-01

We report a case of 28-year-old, primipara who presented with complaints of mass descending per vaginum along with excessive bleeding and foul smelling vaginal discharge for the past six months. Clinical examination revealed an inverted uterus, cervix and vagina with a large submucosal fundal fibroid. A diagnosis of non-puerperal uterine inversion was made. Surgical management included vaginal myomectomy with repositioning of the uterus using an abdomino-vaginal approach and a successful outcome. Histopathology confirmed the diagnosis of leiomyoma. Hence, we conclude that uterus-sparing surgery should be considered in young females desirous for future pregnancy until the final pathology is known.

Augmented Reality Robot-assisted Radical Prostatectomy: Preliminary Experience.

PubMed

Porpiglia, Francesco; Fiori, Cristian; Checcucci, Enrico; Amparore, Daniele; Bertolo, Riccardo

2018-05-01

To present our preliminary experience with augmented reality robot-assisted radical prostatectomy (AR-RARP). From June to August 2017, patients candidate to RARP were enrolled and underwent high-resolution multi-parametric magnetic resonance imaging (1-mm slices) according to dedicated protocol. The obtained three-dimensional (3D) reconstruction was integrated in the robotic console to perform AR-RARP. According to the staging at magnetic resonance imaging or reconstruction, in case of cT2 prostate cancer, intrafascial nerve sparing (NS) was performed: a mark was placed on the prostate capsule to indicate the virtual underlying intraprostatic lesion; in case of cT3, standard NS AR-RARP was scheduled with AR-guided biopsy at the level of suspected extracapsular extension (ECE). Prostate specimens were scanned to assess the 3D model concordance. Sixteen patients underwent intrafascial NS technique (cT2), whereas 14 underwent standard NS+ selective biopsy of suspected ECE (cT3). Final pathology confirmed clinical staging. Positive surgical margins' rate was 30% (no positive surgical margins in pT2). In patients whose intraprostatic lesions were marked, final pathology confirmed lesion location. In patients with suspected ECE, AR-guided selective biopsies confirmed the ECE location, with 11 of 14 biopsies (78%) positive for prostate cancer. Prostate specimens were scanned with finding of a good overlap. The mismatch between 3D reconstruction and scanning ranged from 1 to 5 mm. In 85% of the entire surface, the mismatch was <3 mm. In our preliminary experience, AR-RARP seems to be safe and effective. The accuracy of 3D reconstruction seemed to be promising. This technology has still limitations: the virtual models are manually oriented and rigid. Future collaborations with bioengineers will allow overcoming these limitations. Copyright © 2018 Elsevier Inc. All rights reserved.

[Association of biliary calculosis and portal cavernomatosis].

PubMed

Crespi, C; De Giorgio, A M

1992-08-01

This paper reports the case of a woman, who underwent surgery because of cholelithiasis, with intraoperative finding of prehepatic portal hypertension from portal vein thrombosis ("portal cavernoma") with healthy liver, later confirmed by angiographic studies. This rare pathologic association carries a higher risk of major operative complications; therefore the Authors agree with the general belief that, for these cases, biliary tract surgery should be as simple and safe as possible. In the case of preoperative diagnosis of biliary disease associated with portal cavernoma, should a surgical approach on the biliary tract be required, we agree on the advisability of performing a shunting procedure before any kind of biliary surgery. In case of variceal bleeding endoscopic sclerotherapy will be the first choice; surgical procedures (shunting) should be seen as a second choice in case of rebleeding after sclerotherapy.

Clinical Review of 20 Cases of Addison’s Disease in Korea

PubMed Central

Sung, Sang Kyu; Kwon, Yong Joon; Lee, Bum Woo; Kim, Doo Man; Yoo, Hyung Joon

1988-01-01

Addison’s disease is a rare disorder resulting from a chronic deficiency of adrenol cortical hormone. The clinical manifestations and data of 20 patients with Addison’s disease were reviewed. They include 14 previously reported cases, total cases in korea upto 1987, and 6 new cases at National Medical Center. 13 patients were male and 7 female. The mean age was 39 years and ranged from 16 to 61 years.Common symptoms included mucocutaneous pigmentation (95 %), general weakness (90%), nasuea and/or vomiting (80%), and weight loss (60%).Initial mean blood pressure was 96±21/63±14 mmHg and adrenal crises were found in 5 cases (25%).Laboratory data indicated hyponatremia and hyperkalemia, resulting in a decreased Na/K ratio. Serum basal cortisol and ACTH levels were 2.86±1.93 ug/dl and 482.5/269.3 pg/ml, respectively.Extra-adrenal tuberculosis was present in 14 cases (70%) as a very high incidence.These 14 cases (70%) were presumed to be due to adrenal tuberculosis, although only two cases were confirmed as such by histopathology. The other cases were likely to be non-tuberculous. Thus, tuberculosis may be-considered as a predominant cause of Addision’s disease in Korea. Other features were not unusual. But further detailed and extensive studies are necessary including more pathologically confirmed cases. PMID:3153796

Echocardiographic diagnosis of rare pathological patterns of sinus of Valsalva aneurysm

PubMed Central

Wang, Xinfang; Lü, Qing; He, Lin; Wang, Jing; Wang, Bin; Li, Ling; Yuan, Li; Liu, Jinfeng; Ge, Shuping; Xie, Mingxing

2017-01-01

Objective To evaluate the value and improve the diagnostic accuracy of echocardiography in the diagnosis of a sinus of Valsalva aneurysm (SVA) with rare pathological patterns. Methods Echocardiographic features and surgical findings from 270 Chinese patients with SVA treated in the last 18 years (1995–2013) at the Union Hospital were compared retrospectively; 22 of 270 cases had rare patterns. Results The patients with SVA, a rare origin, a rare extending position, or a rare course accounted for 3.4%, 7.4%, and 0.4% of the 270 cases, respectively. The three most common aneurysmal complications of the patients with rare patterns were severe aortic regurgitation (16), obstruction of the ventricular outflow tract or valvular orifice (3), and conduction disturbance (3). The origin, course, extending position and rupture status of the SVAs determined by echocardiography were entirely consistent with surgical findings in 81.8% of the 22 cases. With the exception of one failed diagnosis of an aneurysmal wall dissection and one misdiagnosis of a descending aortic dissection, the echocardiographic results of SVA complications and associated cardiovascular lesions were also confirmed. Conclusion We could accurately diagnose SVAs with rare pathological patterns by echocardiographic identification of distinguishing features. However, for several conditions, we could not accurately identify the origin or course of the aneurysm or define its relationship to adjacent structures using conventional echocardiography alone. Therefore, we recommend combining conventional echocardiography with different imaging techniques, such as transesophageal echocardiography, three-dimensional echocardiography, computed tomography angiography, and aortic angiography. PMID:28291779

[Malignant mesothelioma of the vulva. About one case].

PubMed

Bahri, I; Boudawara, T; Zitoun, I; Daoud, J; Rekik, S; Jlidi, R

2003-09-01

Most malignant mesotheliomas are pleural; they rarely occur within the peritoneum and their location in the vulva is exceptional. A case of a malignant mesothelioma of the vulva is reported in a 47-year-old woman. The patient was operated for a tumour of the vulva. The preoperative diagnosis was that of a cyst of the Bartholin's gland or a fibroma. The microscopic and immunohistochemical exam confirmed the diagnosis of a biphasic malignant mesothelioma of the vulva. The computed tomography scan of the chest and the abdomen was normal. A local recurrence of the tumour occurred in spite of the postoperative radiotherapy. Our objective about this particular case is to discuss the clinical and pathologic aspects and the diagnostic problems of this exceptional tumour of the vulva.

Adenocarcinoma of urinary bladder: A report of two patients.

PubMed

Kumari, Nitu; Vasudeva, Pawan; Kumar, Anup; Agrawal, Usha

2015-01-01

Adenocarcinoma of the bladder is a rare tumor. Primary and metastatic adenocarcinomas of urinary bladder are morphologically similar, but histogenetically different. We present two cases, a signet ring cell adenocarcinoma with follow-up and another of glandular adenocarcinoma of urinary bladder. Pathological evaluation and immunohistochemical panel of eight markers (E-cadherin, CK20, CK7, CDX2, estrogen receptor (ER), gross cystic disease fluid protein 15 (GCDFP15), 34bE12, and prostate specific antigen (PSA) provides a diagnostic confirmation of primary adenocarcinoma with the positive expression of E-cadherin and CK20 in case 1 and metastatic adenocarcinoma of prostate with profile of E-cadherin+, CK20-, GCDFP15+, 34bE12+, and PSA+ in case 2.

Geographic variation in marine turtle fibropapillomatosis

USGS Publications Warehouse

Greenblatt, R.J.; Work, Thierry M.; Dutton, P.; Sutton, C.A.; Spraker, T.R.; Casey, R.N.; Diez, C.E.; Parker, Dana C.; St. Ledger, J.; Balazs, G.H.; Casey, J.W.

2005-01-01

We document three examples of fibropapillomatosis by histology, quantitative polymerase chain reaction (qPCR), and sequence analysis from three different geographic areas. Tumors compatible in morphology with fibropapillomatosis were seen in green turtles from Puerto Rico and San Diego (California) and in a hybrid loggerhead/ hawksbill turtle from Florida Bay (Florida). Tumors were confirmed as fibropapillomas on histology, although severity of disease varied between cases. Polymerase chain reaction (PCR) analyses revealed infection with the fibropapilloma-associated turtle herpesvirus (FPTHV) in all cases, albeit at highly variable copy numbers per cell. Alignment of a portion of the polymerase gene from each fibropapilloma-associated turtle herpesvirus isolate demonstrated geographic variation in sequence. These cases illustrate geographic variation in both the pathology and the virology of fibropapillomatosis.

Geographic variation in marine turtle fibropapillomatosis.

PubMed

Greenblatt, Rebecca J; Work, Thierry M; Dutton, Peter; Sutton, Claudia A; Spraker, Terry R; Casey, Rufina N; Diez, Carlos E; Parker, Denise; St Leger, Judy; Balazs, George H; Casey, James W

2005-09-01

We document three examples of fibropapillomatosis by histology, quantitative polymerase chain reaction (qPCR), and sequence analysis from three different geographic areas. Tumors compatible in morphology with fibropapillomatosis were seen in green turtles from Puerto Rico and San Diego (California) and in a hybrid loggerhead/ hawksbill turtle from Florida Bay (Florida). Tumors were confirmed as fibropapillomas on histology, although severity of disease varied between cases. Polymerase chain reaction (PCR) analyses revealed infection with the fibropapilloma-associated turtle herpesvirus (FPTHV) in all cases, albeit at highly variable copy numbers per cell. Alignment of a portion of the polymerase gene from each fibropapilloma-associated turtle herpesvirus isolate demonstrated geographic variation in sequence. These cases illustrate geographic variation in both the pathology and the virology of fibropapillomatosis.

Cross-Sectional Imaging in a Case of Adventitial Cystic Disease of the Popliteal Artery

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ricci, Paolo; Panzetti, Claudio; Mastantuono, Marco

1999-01-15

Adventitial cystic disease of the popliteal artery is an unusual condition of uncertain etiology, in which a mucin-containing cyst forms in the wall of the artery and produces lower extremity claudication, typically in young and middle-aged men. A diagnosis of adventitial cystic disease of the popliteal artery was made preoperatively in a 47-year-old man by means of several imaging modalities, including angiography, magnetic resonance imaging, and ultrasound. The pathological findings confirmed the suggested diagnosis.

Clinical, pathological and sonographic characteristics of unexpected gallbladder carcinoma

PubMed Central

Wang, Jin-Huan; Liu, Bo-Ji; Xu, Hui-Xiong; Sun, Li-Ping; Li, Dan-Dan; Guo, Le-Hang; Liu, Lin-Na; Xu, Xiao-Hong

2015-01-01

Objectives: To investigate the clinical, pathological, and sonographic characteristics of unexpected gallbladder carcinoma (UGC). Methods: Of 5424 patients who had undergone cholecystectomy from December 2006 to October 2013, 54 patients with primary gallbladder carcinomas confirmed by pathological diagnosis were identified. The patients were divided into two groups: diagnosed before operation (n=34) and UGC groups (n=20), of whom the clinical, pathological, and sonographic characteristics were compared. Results: No significant differences in age, gender, location of lesion, histological type, length of the gallbladder, existence of biliary sludge, and intestinal gas interference between the two groups were found (all P>0.05). The clinical symptoms, laboratory abnormalities, tumor markers, coexisting gallbladder stones, lesion size, lesion type, degree of differentiation, and tumor staging showed statistically significant differences between the two groups (all P<0.05). On ultrasound, the width of the gallbladder, gallbladder wall thickness, vascularity on color Doppler ultrasound, and bile volume in the gallbladder showed significant differences (all P<0.05). Conclusions: UGCs are commonly found at an early stage, often well-differentiated, wall thickened, and are generally accompanied with cholelithiasis. UGCs should be taken into consideration in cases with cholelithiasis or small gallbladder on ultrasound. PMID:26379911

Ultrasound diagnostic of mesonephric paraovarian cyst - case report

PubMed Central

Bohîlțea, RE; Cîrstoiu, MM; Turcan, N; Ionescu, CA

2016-01-01

Paraovarian cysts are a rare pathology, constituting 10-20% of the adnexal masses. The origin can be represented by paramesonephric ducts (Hydatid cysts of Morgagni), vestiges of mesonephric ducts also represented by mesothelium, or neoplastic (cystadenomas or cystadenofibromas) that are mostly benign. Borderline or malignant paraovarian tumors are encountered less often. This article presents a case of paraovarian cyst in a 37-year-old patient, with a history of 2 pregnancies, completed by cesarean. The patient sought medical attention for an asymptomatic voluminous ovarian cyst, detected in a routine ultrasound scan. Laboratory tests and tumor markers were within normal limits. Transvaginal ultrasound and color Doppler revealed a cystic adnexal mass with 10 cm transonic, smooth, homogeneous content, avascular walls with no internal papillary projections, with a “hyperechoic line” sign of delimitation from the ovarian capsule, mostly visible when the adnexa was mobilized. The diagnostic and curative laparoscopic surgery was successful, followed by a quick recovery. The histopathological exam confirmed the benignity and the origin of the paraovarian cyst. The case was discussed in the context of the literature review concerning this pathology, drawing attention to the real possibility of differentiating ovarian from paraovarian cysts by ultrasound. PMID:27974934

Longitudinal assessment of short-term memory deterioration in a logopenic variant primary progressive aphasia with post-mortem confirmed Alzheimer's Disease pathology.

PubMed

Tree, Jeremy; Kay, Janice

2015-09-01

In the field of dementia research, there are reports of neurodegenerative cases with a focal loss of language, termed primary progressive aphasia (PPA). Currently, this condition has been further sub-classified, with the most recent sub-type dubbed logopenic variant (PPA-LV). As yet, there remains somewhat limited evaluation of the characteristics of this condition, with no studies providing longitudinal assessment accompanied by post-mortem examination. Moreover, a key characteristic of the PPA-LV case is a deterioration of phonological short-term memory, but again little work has scrutinized the nature of this impairment over time. The current study seeks to redress these oversights and presents detailed longitudinal examination of language and memory function in a case of PPA-LV, with special focus on tests linked to components of phonological short-term memory function. Our findings are then considered with reference to a contemporary model of the neuropsychology of phonological short-term memory. Additionally, post-mortem examinations indicated Alzheimer's disease type pathology, providing further evidence that the PPA-LV presentation may reflect an atypical presentation of this condition. © 2014 The British Psychological Society.

Magnetic resonance imaging with pathological correlation in a case of mantle cell lymphoma of the parotid gland: a case report

PubMed Central

2010-01-01

Introduction Mantle cell lymphoma is a rare non-Hodgkin's lymphoma. It is a subtype of B-cell lymphoma with frequent involvement of the bone marrow and the gastrointestinal tract. Isolated parotid gland involvement seldom occurs. Here we report an unusual case of isolated infiltration of the parotid gland by mantle cell lymphoma. The aim of our study is to correlate magnetic resonance imaging findings with the histological features of the disease. To the best of our knowledge, no similar radiological findings of mantle cell lymphoma have been published before. Case presentation A 72-year-old Caucasian woman presented with a painful left parotid enlargement. She was diagnosed with mantle cell lymphoma involving the left submandibular gland seven years prior to presentation. Her whole body CT scan showed the absence of pathologically enlarged lymph nodes. However, a magnetic resonance imaging showed enlargement of her left parotid gland and an abnormal parenchyma with mixed-type solid and cystic lesions. A biopsy of her left parotid gland and subsequent histological examination confirmed a mantle cell lymphoma (common variant) relapse. Conclusion Although rare, the involvement of parotid gland with mantle cell lymphoma must be considered in the differential diagnosis of parotid tumors. PMID:20350332

Idiopathic granulomatous mastitis: a mimicking disease in a pregnant woman: a case report

PubMed Central

2013-01-01

Background Idiopathic granulomatous mastitis is a rare, benign, inflammatory chronic condition of unclear etiology. This case is reported because it illustrates how idiopathic granulomatous mastitis can mimic other diseases, making it difficult to associate the presenting symptoms and the correct diagnosis; This disease is a challenge for clinicians to diagnose, manage and avoid iatrogenic complications, and requires consultation with experts in several specialties. Case presentation The patient was 30 years old, South-American, eleven weeks pregnant, and with an apparent infectious mastitis. She presented with progressive worsening of her breast symptoms and multiple negative laboratory tests. She suffered different side effects from several prescribed treatments and endured a prolonged recovery. The article emphasizes the need for ruling out common pathologies to arrive at the correct diagnosis such as bacterial and fungal infections; granulomatous conditions like tuberculosis and sarcoidosis; and inflammatory breast carcinoma. It also describes frequently used pharmacological and supplementary forms of treatment for patients with this condition. Conclusion Idiopathic granulomatous mastitis is a rare unusual condition of unknown etiology. Pathological confirmation is required for its diagnosis and optimal management is still unclear. The presentation and management of this case is intended to advance its awareness to physicians from different specialties. PMID:23497626

Multi-phase post-mortem CT-angiography: a pathologic correlation study on cardiovascular sudden death

PubMed Central

Turillazzi, Emanuela; Frati, Paola; Pascale, Natascha; Pomara, Cristoforo; Grilli, Giampaolo; Viola, Rocco Valerio; Fineschi, Vittorio

2016-01-01

Multi-phase post-mortem CT-angiography (MPMCTA) has the great potential to increase the quality of the post-mortem investigation, especially in the area of sudden death; however, its role as routine complement to the pathology toolbox is still questioned as it needs to be further standardized. The aim of this study is to investigate the contribution of MPMCTA in cases of sudden unexplained death in adults and in particular in sudden cardiovascular death. Sixty-eight sudden unexpected deaths of adults were investigated at our institution between 2012 and 2013. Ten cases underwent MPMCTA and autopsy and were included in the study. Before the angiographic step by complete filling of the vascular system, prior to any manipulation of the body, a non-contrast CT-scan was carried out. Image reconstructions were performed on a CT workstation (Vitrea) and two radiologists experienced with post mortem imaging interpreted the MPMCTA findings. In all 10 cases, we could state a good correlation between combination of post-mortem CT and MPMCTA and autopsy procedures, confirming a high diagnostic sensitivity. With this case series we want to illustrate the advantages offered by performing MPMCTA when facing a sudden death, regardless of specific suspicion for acute coronary syndrome or other vascular or ischemic disease. PMID:27928228

Isolation of Leptospira interrogans serovar Hardjoprajitno from a calf with clinical leptospirosis in Chile.

PubMed

Salgado, Miguel; Otto, Barbara; Moroni, Manuel; Sandoval, Errol; Reinhardt, German; Boqvist, Sofia; Encina, Carolina; Muñoz-Zanzi, Claudia

2015-03-18

Although Leptospira isolation has been reported in Chilean cattle, only serological evidence of serovar Hardjo bovis infection has been routinely reported. The present report provides characterization of the pathological presentation and etiology of a clinical case of leptospirosis in a calf from the Los Rios Region in Chile. In a dairy herd in southern Chile, 11 of 130 calves died after presenting signs such as depression and red-tinged urine. One of these calves, a female of eight months, was necropsied, and all the pathological findings were consistent with Leptospira infection. A urine sample was submitted to conventional bacteriological analysis together with highly specific molecular biology typing tools, in order to unravel the specific Leptospira specie and serovar associated with this clinical case. A significant finding of this study was that the obtained isolate was confirmed by PCR as L. interrogans, its VNTR profile properly matching with L. interrogans Hardjoprajitno as well as its specific genomic identity revealed by secY gen. Leptospira interrogans serovar Hardjoprajitno was associated with the investigated calf clinical case. This information adds to the value of serologic results commonly reported, which encourage vaccination improvements to match circulating strains. In addition, this finding represents the first case report of this serovar in Chilean cattle.

[Morphological findings in fatal cases of hantavirus cardiopulmonary syndrome. Report of 7 autopsies].

PubMed

Guzmán G, Pablo; Tapia E, Oscar; Villaseca H, Miguel; Araya O, Juan; Antonio P, Lilia; Lee O, Bolívar; Roa S, Juan

2010-10-01

Hantavirus cardiopulmonary syndrome (HCPS) is an acute infectious disease characterized by sudden cardiorespiratory failure and high mortality, caused by a RNA virus of the genus Hantavirus, family Bunyaviridae, 15% of Chilean cases have been detected in the Araucania Region. To determine in fatal cases of HCPS, clinical and morphological characteristics. Descriptive-retrospective analysis of seven fatal cases with postmortem study of HCPS, attended between 1997 and 2009 at the Hospital of Temuco, Chile. Cases were young patients from rural areas, and presented as an illness of progressive respiratory failure, with leukocytosis, thrombocytopenia and bilateral interstitial pulmonary infiltrates. Main morphological findings were marked intersticial and intraalveolar pulmonary edema, with minimal epithelial injury and mononuclear cell intersticial infiltrate and mild edematous intersticial inflamatory process. Epidemiological, clinical and laboratory background allow to suspect HCPS. In fatal cases, the autopsy makes possible to discard other similar pathologies and provide tissue for confirmation of the disease.

Case mix, outcome and activity for obstetric admissions to adult, general critical care units: a secondary analysis of the ICNARC Case Mix Programme Database

PubMed Central

2005-01-01

Introduction Risk prediction scores usually overestimate mortality in obstetric populations because mortality rates in this group are considerably lower than in others. Studies examining this effect were generally small and did not distinguish between obstetric and nonobstetric pathologies. We evaluated the performance of the Acute Physiology and Chronic Health Evaluation (APACHE) II model in obstetric admissions to critical care units contributing to the ICNARC Case Mix Programme. Methods All obstetric admissions were extracted from the ICNARC Case Mix Programme Database of 219,468 admissions to UK critical care units from 1995 to 2003 inclusive. Cases were divided into direct obstetric pathologies and indirect or coincidental pathologies, and compared with a control cohort of all women aged 16–50 years not included in the obstetric categories. The predictive ability of APACHE II was evaluated in the three groups. A prognostic model was developed for direct obstetric admissions to predict the risk for hospital mortality. A log-linear model was developed to predict the length of stay in the critical care unit. Results A total of 1452 direct obstetric admissions were identified, the most common pathologies being haemorrhage and hypertensive disorders of pregnancy. There were 278 admissions identified as indirect or coincidental and 22,938 in the nonpregnant control cohort. Hospital mortality rates were 2.2%, 6.0% and 19.6% for the direct obstetric group, the indirect or coincidental group, and the control cohort, respectively. Cox regression calibration analysis showed a reasonable fit of the APACHE II model for the nonpregnant control cohort (slope = 1.1, intercept = -0.1). However, the APACHE II model vastly overestimated mortality for obstetric admissions (mortality ratio = 0.25). Risk prediction modelling demonstrated that the Glasgow Coma Scale score was the best discriminator between survival and death in obstetric admissions. Conclusion This study confirms that APACHE II overestimates mortality in obstetric admissions to critical care units. This may be because of the physiological changes in pregnancy or the unique scoring profile of obstetric pathologies such as HELLP syndrome. It may be possible to recalibrate the APACHE II score for obstetric admissions or to devise an alternative score specifically for obstetric admissions.

The management of work-related asthma guidelines: a broader perspective.

PubMed

Baur, Xaver; Aasen, Tor Brøvig; Burge, P Sherwood; Heederik, Dick; Henneberger, Paul K; Maestrelli, Piero; Schlünssen, Vivi; Vandenplas, Olivier; Wilken, Dennis

2012-06-01

The aim of the European Respiratory Society work-related asthma guidelines is to present the management and prevention options of work-related asthma and their effectiveness. Work-related asthma accounts for 5-25% of all adult asthma cases and is responsible for a significant socioeconomic burden. Several hundred occupational agents, mainly allergens but also irritants and substances with unknown pathological mechanisms, have been identified as causing work-related asthma. The essential message of these guidelines is that the management of work-related asthma can be considerably optimised based on the present knowledge of causes, risk factors, pathomechanisms, and realistic and effective interventions. To reach this goal we urgently require greatly intensified primary preventive measures and improved case management. There is now a substantial body of evidence supporting the implementation of comprehensive medical surveillance programmes for workers at risk. Those workers who fail surveillance programmes need to be referred to a clinician who can confirm or exclude an occupational cause. Once work-related asthma is confirmed, a revised risk assessment in the workplace is needed to prevent further cases. These new guidelines confirm and extend already existing statements and recommendations. We hope that these guidelines will initiate the much-needed research that is required to fill the gaps in our knowledge and to initiate substantial improvements in preventative measures.

[Axillary pathologic response after neoadjuvant chemotherapy in locally advanced breast cancer with axillary involvement].

PubMed

Jiménez-Ballvé, A; Serrano-Palacio, A; García-Sáenz, J A; Ortega Candil, A; Salsidua-Arroyo, O; Román-Santamaría, J M; Pelayo Alarcón, A; Fuentes Ferrer, M E; Carreras-Delgado, J L

2015-01-01

To compare axillary involvement (N+) at initial staging in locally advanced breast cancer (LABC) with axillary lymphadenectomy histologic results after neoadjuvant chemotherapy treatment (NeoChemo). Retrospective study between November 2011 and September 2013 of LABC cases treated with neoadjuvant chemotherapy based on docetaxel (associated with trastuzumab in HER2 positive cases and carboplatin/adriamycin in HER2 negative cases). Those clinically or radiologically suspected cases of axillary involvement were histologically confirmed. When there was no suspicion of axillary involvement, sentinel lymph node radioguided biopsy (SLNRB) was performed using intradermal injection of (99m)Tc-nanocolloid albumin prior to neoadjuvant treatment. Axillary lymphadenectomy after NeoChemo was undertaken in all cases with positive axilla. Final pathologic response was classified as complete (pCR) when there was no evidence of tumoral disease and as non-pathologic complete response (no pCR) in the opposite case. A total of 346 patients treated with docetaxel were reviewed, identifying 105 LABC. Axillary involvement at initial staging was detected in 70 (67%) before starting NeoChemo. From these 70, 73% (n=51) were N+ (fine needle biopsy and/or biopsy) and the remaining 19 (27%) were occult N+ detected by SLNRB. Axillary lymphadenectomy detected pCR in 56% (39/70), increasing up to 84% pCR when initial N+ status was reached using SNLB. On the other hand, when N+ was detected using fine needle biopsy/lymph biopsy, pCR was only 45%. More than 50% of women affected by locally advanced breast cancer with tumoral axillary involvement at initial diagnosis present free metastatic axilla after therapeutic neoadjuvant chemotherapy effect. This increases up to almost 90% in case of occult metastatic axilla detected with sentinel node biopsy prior starting neoadjuvant chemotherapy. Copyright © 2014 Elsevier España, S.L.U. and SEMNIM. All rights reserved.

The importance of post-mortem computed tomography (PMCT) in confrontation with conventional forensic autopsy of victims of motorcycle accidents.

PubMed

Moskała, Artur; Woźniak, Krzysztof; Kluza, Piotr; Romaszko, Karol; Lopatin, Oleksij

2016-01-01

Since traffic accidents are an important problem in forensic medicine, there is a constant search for new solutions to help with an investigation process in such cases. In recent years there was a rapid development of post-mortem imaging techniques, especially post-mortem computed tomography (PMCT). In our work we concentrated on a potential advantage of PMCT in cases of motorcycle accident fatalities. The results of forensic autopsy were compared with combined results of the autopsy and PMCT to check in which areas use of these two techniques gives statistically important increase in number of findings. The hypothesis was confirmed in case of pneumothorax and fractures of skull, spine, clavicle, scapula, lower leg bones. As for majority of other bone fractures locations and brain injures there were single cases with pathologies visible only in PMCT, but too few to reach expected level of p-value. In case of injuries of solid organs and soft tissues statistical analysis did not confirmed any advantage of unenhanced PMCT use. On the whole it has been shown that PMCT used as an adjunct to forensic autopsy can cause an increase in information about vitally important regions in case of motorcycle accident fatalities. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Primary intestinal lymphangiectasia diagnosed by double-balloon enteroscopy and treated by medium-chain triglycerides: a case report.

PubMed

Lai, Yu; Yu, Tao; Qiao, Xiao-Yu; Zhao, Li-Na; Chen, Qi-Kui

2013-01-14

Primary intestinal lymphangiectasia is a disorder characterized by exudative enteropathy resulting from morphologic abnormalities of the intestinal lymphatics. Intestinal lymphangiectasia can be primary or secondary, so the diagnosis of primary intestinal lymphangiectasia must first exclude the possibility of secondary intestinal lymphangiectasia. A double-balloon enteroscopy and biopsy, as well as the pathology can be used to confirm the diagnosis of intestinal lymphangiectasia. A polymeric diet containing medium-chain triglycerides and total parenteral nutrition may be a useful therapy. A 17-year-old girl of Mongoloid ethnicity was admitted to our hospital with a history of diarrhea and edema. She was diagnosed with protein-losing enteropathy caused by intestinal lymphangiectasia. This was confirmed by a double-balloon enteroscopy and multi-dot biopsy. After treatment with total parenteral nutrition in hospital, which was followed by a low-fat and medium-chain triglyceride diet at home, she was totally relieved of her symptoms. Intestinal lymphangiectasia can be diagnosed with a double-balloon enteroscopy and multi-dot biopsy, as well as the pathology of small intestinal tissue showing edema of the submucosa and lymphangiectasia. Because intestinal lymphangiectasia can be primary or secondary, the diagnosis of primary intestinal lymphangiectasia must first exclude the possibility of secondary intestinal lymphangiectasia. A positive clinical response to the special diet therapy, namely a low-fat and medium-chain triglyceride diet, can further confirm the diagnosis of primary intestinal lymphangiectasia.

Outcomes and management of patients with Cushing's disease without pathological confirmation of tumor resection after transsphenoidal surgery.

PubMed

Pouratian, Nader; Prevedello, Daniel M; Jagannathan, Jay; Lopes, M Beatriz; Vance, Mary Lee; Laws, Edward R

2007-09-01

Despite the success of transsphenoidal surgery (TSS) for the treatment of Cushing's disease, in a number of cases, an ACTH-staining pituitary adenoma is not identified histologically. The clinical significance of lack of histological confirmation remains unclear. This was a retrospective review of patients treated at the University of Virginia Medical Center. Of 490 TSS procedures for Cushing's disease between 1993 and 2004, we identified 111 cases without histological adenoma confirmation. Remission and recurrence of Cushing's disease were measured. Overall, 50% of these patients achieved remission, a figure lower than for our entire series (79%) and for patients with histological confirmation of an ACTH-staining adenoma (88%) (P < 0.001). Patients with a history of two prior TSS achieved remission less often than patients with a history of fewer TSS (P = 0.026). No other factors influenced remission rates. Although the overall recurrence rate (21%, seven of 33 evaluated) was not different from previously published long-term studies, in three of seven cases of recurrence, early recurrences were noted between 2 and 4 months after remission. In patients who did not achieve remission, the most common and effective treatment options were repeat TSS, gamma-knife radiosurgery, and bilateral adrenalectomy. The lower remission rate in patients without histological evidence of an adenoma is most likely a result of a decreased rate of adenoma extirpation. The incidence of early recurrence may be a unique feature of this patient population; patients without histological confirmation of tumor resection therefore require close and consistent monitoring postoperatively.

The diagnostic value of cytohistological urine analysis and cytokeratin 20 in malignant and atypical urothelial cells.

PubMed

Negri, S; Biavati, P; Bondi, A

2016-09-01

To determine the ability of cytohistology and cytokeratin 20 (CK 20) expression in malignant and atypical cells (AUC) from urine to serve as a diagnostic tool for assessing urothelial carcinoma (UC). Diagnoses from 55 urine cytological samples from 55 patients were analyzed and correlated with subsequent biopsy findings. A total of 50 archived urine slides from patients that received a cytological diagnosis and histological follow-up were selected for immunostaining with monoclonal CK 20 antibodies and elaborated by Z-test for proportions. The majority of all positive or atypical smears (24; 89%) were confirmed through histological analysis. The majority of urinary cytological diagnoses reported as negative (15; 54%) were also confirmed through biopsies. The overall sensitivity, specificity, PPV, and NPV were 65%, 83%, 89%, and 54%, respectively. All 13 smears cytologically determined to contain malignant cells, with subsequent biopsies confirming UC, exhibited strong positive staining with the CK 20 antibody. All cases evaluated as benign both cytologically and histologically had negative CK 20 staining. Of the 15 AUC cases with lesions confirmed through biopsies, 11 (73%) had atypical cells that stained positive for CK 20. Our results demonstrate the diagnostic value of urinary cytology and confirm CK 20 as an adjunct marker for the diagnosis of UC and for the triage of AUC. © Copyright Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology.

Immunohistochemical findings of the granulomatous reaction associated with tuberculosis.

PubMed

Karimi, Shirin; Shamaei, Masoud; Pourabdollah, Mihan; Sadr, Makan; Karbasi, Mehrdad; Kiani, Arda; Bahadori, Moslem

2016-12-01

The histological diagnosis of Mycobacterium tuberculosis (MTB) has long been a diagnostic challenge in the anatomical pathology field despite availability of different laboratory methods. Immunohistochemistry (IHC) could not only confirm granulomatous tissue involvement but also demonstrate MTB antigen immunolocalization. This study tries to clarify the details of IHC staining for MTB with pAbBCG. A total of 50 patients undergoing simultaneous biopsy and tissue culture with positive tissue culture for MTB during 2005-2009 were selected from the MRC Department at Masih Daneshvari Hospital, Tehran, Iran. Using the archives of the Pathology Department of this hospital, which is a referral center for pathological lung lesions, hematoxylin and eosin slides of the selected patients were evaluated. Twenty-three confirmed TB granulomatous tissue samples with adequate tissue and number of granulomas were chosen and studied by Ziehl-Neelsen and IHC staining with pAbBCG. A total of 23 cases were evaluated, of which 17 (73.9%) were males. The types of tissue obtained from study cases were as follows: pleura (9 cases, 39.1%), lymph node (cervical, axillary, and thoracic [9 cases, 39.1%]), and lung tissues (5 cases, 21.7%). IHC staining was positive in all samples, whereas Ziehl-Neelsen staining was positive in nine cases of 23 (39.1%). IHC showed positive coarse granular cytoplasmic and round, fragmented bacillary staining. In this study, epithelioid cells clearly showed more positive staining at the periphery rather than at the center of granuloma. There is also positive staining in endothelial cells, fibroblasts, plasma cells, macrophages, and lymphocytes outside the granuloma. Detection of TB in tissue slides is still based on the histological pattern of the granuloma, which has several differential diagnoses with different treatments. Presence of mycobacterial antigens and tissue morphology can be evaluated using the IHC technique. Considering the criteria of positive IHC staining of TB granulomatous reactions, this stain not only highlights the presence of mycobacterial antigens for tissue diagnosis, but also could morphologically localize their distribution in different cells. Pathologists must be familiar with adequate staining pattern, elimination of background staining, and type of selected antibody. This method is especially important for application in countries with high prevalence of TB as a technique with early diagnostic value in tissue specimens. Early diagnosis using this technique can reduce related morbidity and mortality and decrease the rate of complications due to misdiagnosis and mistreatment of TB. Copyright © 2016.

Rates of Amyloid Imaging Positivity in Patients With Primary Progressive Aphasia

PubMed Central

Santos-Santos, Miguel A.; Rabinovici, Gil D.; Iaccarino, Leonardo; Ayakta, Nagehan; Tammewar, Gautam; Lobach, Iryna; Henry, Maya L.; Hubbard, Isabel; Mandelli, Maria Luisa; Spinelli, Edoardo; Miller, Zachary A.; Pressman, Peter S.; O’Neil, James P.; Ghosh, Pia; Lazaris, Andreas; Meyer, Marita; Watson, Christa; Yoon, Soo Jin; Rosen, Howard J.; Grinberg, Lea; Seeley, William W.; Miller, Bruce L.; Jagust, William J.; Gorno-Tempini, Maria Luisa

2018-01-01

IMPORTANCE The ability to predict the pathology underlying different neurodegenerative syndromes is of critical importance owing to the advent of molecule-specific therapies. OBJECTIVE To determine the rates of positron emission tomography (PET) amyloid positivity in the main clinical variants of primary progressive aphasia (PPA). DESIGN, SETTING, AND PARTICIPANTS This prospective clinical-pathologic case series was conducted at a tertiary research clinic specialized in cognitive disorders. Patients were evaluated as part of a prospective, longitudinal research study between January 2002 and December 2015. Inclusion criteria included clinical diagnosis of PPA; availability of complete speech, language, and cognitive testing; magnetic resonance imaging performed within 6 months of the cognitive evaluation; and PET carbon 11–labeled Pittsburgh Compound-B or florbetapir F 18 brain scan results. Of 109 patients referred for evaluation of language symptoms who underwent amyloid brain imaging, 3 were excluded because of incomplete language evaluations, 5 for absence of significant aphasia, and 12 for presenting with significant initial symptoms outside of the language domain, leaving a cohort of 89 patients with PPA. MAIN OUTCOMES AND MEASURES Clinical, cognitive, neuroimaging, and pathology results. RESULTS Twenty-eight cases were classified as imaging-supported semantic variant PPA (11 women [39.3%]; mean [SD] age, 64 [7] years), 31 nonfluent/agrammatic variant PPA (22 women [71.0%]; mean [SD] age, 68 [7] years), 26 logopenic variant PPA (17 women [65.4%]; mean [SD] age, 63 [8] years), and 4 mixed PPA cases. Twenty-four of 28 patients with semantic variant PPA (86%) and 28 of 31 patients with nonfluent/agrammatic variant PPA (90%) had negative amyloid PET scan results, while 25 of 26 patients with logopenic variant PPA (96%) and 3 of 4 mixed PPA cases (75%) had positive scan results. The amyloid positive semantic variant PPA and nonfluent/agrammatic variant PPA cases with available autopsy data (2 of 4 and 2 of 3, respectively) all had a primary frontotemporal lobar degeneration and secondary Alzheimer disease pathologic diagnoses, whereas autopsy of 2 patients with amyloid PET–positive logopenic variant PPA confirmed Alzheimer disease. One mixed PPA patient with a negative amyloid PET scan had Pick disease at autopsy. CONCLUSIONS AND RELEVANCE Primary progressive aphasia variant diagnosis according to the current classification scheme is associated with Alzheimer disease biomarker status, with the logopenic variant being associated with carbon 11–labeled Pittsburgh Compound-B positivity in more than 95% of cases. Furthermore, in the presence of a clinical syndrome highly predictive of frontotemporal lobar degeneration pathology, biomarker positivity for Alzheimer disease may be associated more with mixed pathology rather than primary Alzheimer disease. PMID:29309493

Spermatic cord liposarcoma: organ-sparing surgery

PubMed Central

Peralta, J P; Godinho, R; Rabaça, C; Reis, M

2013-01-01

The authors report a case of a 53-year-old male patient who came to the urologic clinic with symptoms of a left-sided testicular mass with 4 years of evolution. A left inguinal approach was decided for scrotal exploration. High clamping of the spermatic cord was performed with complete excision of the lesion, which was sent for pathology, preserving the spermatic cord and the testicle. The peroperative result was a well-differentiated liposarcoma of the spermatic cord. We then chose to preserve the ipsilateral testis (organ-sparing surgery). Postoperatively, the final pathology confirmed a well-differentiated spermatic cord liposarcoma, revealing negative surgical margins and no signs of local invasion, namely of the underlying structures. The patient is currently doing well, with no signs of recurrence after one and a half year of follow-up. PMID:23814206

Patient identification error among prostate needle core biopsy specimens--are we ready for a DNA time-out?

PubMed

Suba, Eric J; Pfeifer, John D; Raab, Stephen S

2007-10-01

Patient identification errors in surgical pathology often involve switches of prostate or breast needle core biopsy specimens among patients. We assessed strategies for decreasing the occurrence of these uncommon and yet potentially catastrophic events. Root cause analyses were performed following 3 cases of patient identification error involving prostate needle core biopsy specimens. Patient identification errors in surgical pathology result from slips and lapses of automatic human action that may occur at numerous steps during pre-laboratory, laboratory and post-laboratory work flow processes. Patient identification errors among prostate needle biopsies may be difficult to entirely prevent through the optimization of work flow processes. A DNA time-out, whereby DNA polymorphic microsatellite analysis is used to confirm patient identification before radiation therapy or radical surgery, may eliminate patient identification errors among needle biopsies.

An update on the clinical diagnostic value of β-hCG and αFP for intracranial germ cell tumors.

PubMed

Hu, Mingming; Guan, Hongzhi; Lau, Ching C; Terashima, Keita; Jin, Zimeng; Cui, Liying; Wang, Yuzhou; Li, Guilin; Yao, Yong; Guo, Yi; Li, Yan Michael; Zhong, Dingrong; Xiao, Juan; Wan, Xirun; Lian, Xin; Feng, Feng; Ren, Haitao; Zhao, Yanhuan; Cheng, Xinqi; Gu, Feng

2016-03-12

Pathological examination combined with tumor markers has become a standard for the diagnosis of intracranial germ cell tumors (ICGCTs), but the current concept of 'secreting germ cell tumors' and three empirically highly specific diagnostic criteria (β-hCG ≥ 50 IU/L or αFP ≥ 10 ng/mL; β-hCG ≥ 100 IU/L or αFP ≥ 50 ng/mL; β-hCG > 50 IU/L or αFP > 25 ng/mL) are not based upon pathology examination or CSF cytology. Further investigation is needed to re-evaluate their value. A multidisciplinary diagnostic team was created. Valid β-hCG/αFP data were collected from cases of ICGCTs confirmed by pathology and CSF cytology (n = 58) between 1991 and 2012, and from suspected ICGCTs cases (n = 17) between 2011 and 2012 as controls [Langerhans cell histiocytosis (LCH), n = 12; and other intracranial tumor (ICT), n = 5]. The cut-off points for β-hCG and αFP were calculated using receiver operating characteristic (ROC) curves. This study clarifies the relative rationality of one criteria (β-hCG > 50 IU/L and αFP > 25 ng/mL); confirms new β-hCG diagnostic cut-off points: CSF β-hCG ≥ 8.2 IU/L and serum β-hCG ≥ 2.5 IU/L (sensitivity of 47 and 34%, respectively, specificity of 100%, both; P < 0.05); and empirically adjusts the criteria for αFP to ≥ 3.8 ng/mL in CSF and to ≥ 25 ng/mL in serum. The total diagnostic sensitivity for ICGCTs finally increased from 34.6 to 65.4% (P < 0.05, diagnostic value of CSF β-hCG exceeds 90%). Subtype diagnosis improved with αFP in 16.7% of non-geminomatous germ cell tumor cases. New evidence-based criteria of β-hCG and αFP can help improving early and formal diagnosis of ICGCTs, and is of great clinical significance.

An Unusual Presentation of Plasma Cells - Castleman Disease: A Case Report.

PubMed

Mihăilă, Mariana; Herlea, V; Dobrea, Camelia; Lupescu, Ioana; Munteanu, Gina Rusu; Chiriac, Grethi; Micu, L; Serescu, R; Copaci, I

2016-01-01

We present the case of a 76 year old female patient admitted in the Department of Cardiology for physical asthenia, profuse sweating and dyspnea with orthopnea for about one month. Clinical and paraclinical assessments performed at admission confirmed the diagnosis of cardiac tamponade. Surgical intervention was performed and 400 mL of clear effusion were drained. Post-operative evolution was marked by recurrence of symptoms, requiring after 3 weeks a new drainage of 600 mL of clear effusion, and biopsy of the pericardium was performed. Pathological exam described serous pericarditis with chronic inflammatory infiltrate, xanthogranulomatous reaction intricated in the pericardium and mesothelial hyperplasia. The patient was subsequently transferred to the Department of Internal Medicine for further investigations. Physical examination showed a patient with altered general status, pallor, vesicular murmur absent in both bases, presenting cutaneous hyperpigmentation at the level of the right hemi-abdomen and hip with posterior extension, and a peripheral indurated erythematous plaque. The patient presented nodular masses of 3 cm in the right latero-cervical and bilateral axillary regions, non-adherent to the superficial structures, as well as adenopathic blocks in both inguinal regions. CT scan of the thorax and abdomen showed moderate bilateral pleuresia, minimal pericardial effusion (15 mm) and multiple adenopathies on both sides of the diaphragm. Skin biopsy was performed, as well as bone marrow aspirate and excision of a right axillary lymph node. Pathological exams and immunohistochemistry tests confirmed the diagnosis of Plasma Cells Castleman disease.

Presence of voltage-gated potassium channel complex antibody in a case of genetic prion disease

PubMed Central

Jammoul, Adham; Lederman, Richard J; Tavee, Jinny; Li, Yuebing

2014-01-01

Voltage-gated potassium channel (VGKC) complex antibody-mediated encephalitis is a recently recognised entity which has been reported to mimic the clinical presentation of Creutzfeldt-Jakob disease (CJD). Testing for the presence of this neuronal surface autoantibody in patients presenting with subacute encephalopathy is therefore crucial as it may both revoke the bleak diagnosis of prion disease and allow institution of potentially life-saving immunotherapy. Tempering this optimistic view is the rare instance when a positive VGKC complex antibody titre occurs in a definite case of prion disease. We present a pathologically and genetically confirmed case of CJD with elevated serum VGKC complex antibody titres. This case highlights the importance of interpreting the result of a positive VGKC complex antibody with caution and in the context of the overall clinical manifestation. PMID:24903967

Presence of voltage-gated potassium channel complex antibody in a case of genetic prion disease.

PubMed

Jammoul, Adham; Lederman, Richard J; Tavee, Jinny; Li, Yuebing

2014-06-05

Voltage-gated potassium channel (VGKC) complex antibody-mediated encephalitis is a recently recognised entity which has been reported to mimic the clinical presentation of Creutzfeldt-Jakob disease (CJD). Testing for the presence of this neuronal surface autoantibody in patients presenting with subacute encephalopathy is therefore crucial as it may both revoke the bleak diagnosis of prion disease and allow institution of potentially life-saving immunotherapy. Tempering this optimistic view is the rare instance when a positive VGKC complex antibody titre occurs in a definite case of prion disease. We present a pathologically and genetically confirmed case of CJD with elevated serum VGKC complex antibody titres. This case highlights the importance of interpreting the result of a positive VGKC complex antibody with caution and in the context of the overall clinical manifestation. 2014 BMJ Publishing Group Ltd.

Clinico-radiographic study of odontogenic cysts at a tertiary care centre.

PubMed

Ali, Kamran; Munir, Faisal; Rehman, Abdur; Abbas, Iram; Ahmad, Nofil; Akhtar, Muhammad Usman

2014-01-01

Cysts of the jaws constitute an important pathology in the oral and maxillofacial region and are broadly classified as odontogenic and non-odontogenic. Objective of this study was to document the clinical and radiographic presentation of odontogenic cysts at a tertiary care centre. In this descriptive case-series, patients presenting with features of suspected cystic lesions of the jaws were investigated using radiographs and incisional biopsy. Subjects showing clinico- radiographic features of odontogenic cyst(s) with subsequent confirmation on histopathological examination were included. A total of 112 subjects were investigated for suspected jaw cysts and cystic diagnosis of odontogenic cysts was confirmed in 100 patients with 53 males (53%) and 47 females (47%). The age range of patients was from 12-55 years. Radicular cyst was the most commonly diagnosed odontogenic cyst (63%) followed by dentigerous cyst (22%) and odontogenickeratocyst (14%). Anterior maxilla was the most affected site (44%) followed by posterior mandible (30%). Odontogenic cysts constitute an established pathology affecting the jaws with varying frequency. This study augments the data cited from Western countries and re-emphasizes the need for early diagnosis and prompt management. It also highlights the differences in the presentation of odontogenic cysts as observed in the current series.

Challenges in Pathologic Staging of Renal Cell Carcinoma: A Study of Interobserver Variability Among Urologic Pathologists.

PubMed

Williamson, Sean R; Rao, Priya; Hes, Ondrej; Epstein, Jonathan I; Smith, Steven C; Picken, Maria M; Zhou, Ming; Tretiakova, Maria S; Tickoo, Satish K; Chen, Ying-Bei; Reuter, Victor E; Fleming, Stewart; Maclean, Fiona M; Gupta, Nilesh S; Kuroda, Naoto; Delahunt, Brett; Mehra, Rohit; Przybycin, Christopher G; Cheng, Liang; Eble, John N; Grignon, David J; Moch, Holger; Lopez, Jose I; Kunju, Lakshmi P; Tamboli, Pheroze; Srigley, John R; Amin, Mahul B; Martignoni, Guido; Hirsch, Michelle S; Bonsib, Stephen M; Trpkov, Kiril

2018-06-06

Staging criteria for renal cell carcinoma differ from many other cancers, in that renal tumors are often spherical with subtle, finger-like extensions into veins, renal sinus, or perinephric tissue. We sought to study interobserver agreement in pathologic stage categories for challenging cases. An online survey was circulated to urologic pathologists interested in kidney tumors, yielding 89% response (31/35). Most questions included 1 to 4 images, focusing on: vascular and renal sinus invasion (n=24), perinephric invasion (n=9), and gross pathology/specimen handling (n=17). Responses were collapsed for analysis into positive and negative/equivocal for upstaging. Consensus was regarded as an agreement of 67% (2/3) of participants, which was reached in 20/33 (61%) evaluable scenarios regarding renal sinus, perinephric, or vein invasion, of which 13/33 (39%) had ≥80% consensus. Lack of agreement was especially encountered regarding small tumor protrusions into a possible vascular lumen, close to the tumor leading edge. For gross photographs, most were interpreted as suspicious but requiring histologic confirmation. Most participants (61%) rarely used special stains to evaluate vascular invasion, usually endothelial markers (81%). Most agreed that a spherical mass bulging well beyond the kidney parenchyma into the renal sinus (71%) or perinephric fat (90%) did not necessarily indicate invasion. Interobserver agreement in pathologic staging of renal cancer is relatively good among urologic pathologists interested in kidney tumors, even when selecting cases that test the earliest and borderline thresholds for extrarenal extension. Disagreements remain, however, particularly for tumors with small, finger-like protrusions, closely juxtaposed to the main mass.

[Motor neglect of thalamic origin: report on two cases (author's transl)].

PubMed

Laplane, D; Escourolle, R; Degos, J D; Sauron, B; Massiou, H

1982-01-01

Two cases of thalamic lesions with motor neglect are presented. The syndrome of motor neglect was complete in those cases with a) underutilization of left limbs, but good utilization upon verbal orders, b) loss of placement reaction, c) weakness of movement when hand was approaching the target, d) weakness of motor reaction to nociceptive stimuli. Those cases confirm that motor neglect exists after thalamic lesions and bring pathologic clues for topographic discussion. Motor neglect seems to be a particular case of partial unilateral neglect throwing some doubt on the hypothesis of a global trouble of hemispheric activation. Prevalence of left motor neglects suggests some linkage between propositional motility and language. One may suppose that in the right hemisphere language is able to have a vicarious action when spontaneous activation is lost; at the opposite, in the left hemisphere language and motility would be too linked to let this dissociation be generally possible.

Retrospective Study of Salinomycin Toxicosis in 66 Cats

PubMed Central

Pakozdy, Akos; Challande-Kathman, Iris; Doherr, Marcus; Cizinauskas, Sigitas; Wheeler, Simon J.; Oevermann, Anna; Jaggy, Andre

2010-01-01

We examined 66 cats with salinomycin intoxication. Salinomycin caused different LMN signs of varying degrees of severity in all cases. Changes in blood work were unspecific, with the most frequent being increased serum creatine kinase activity, leukocytosis, and increased liver enzymes. Pathological electrodiagnostic findings: fibrillation potentials and positive sharp waves were detected in 10 cases, motor nerve conductance velocity was mildly decreased in 8/12 cats, and sensory nerve conductance velocity and repetitive nerve stimulation were normal in all examined cases. In five cases the peripheral neuropathy was confirmed by pathohistology. Fluid therapy and supportive care were used as therapy and 52 cats recovered completely. The probability for complete remission was significantly different between mildly and severely affected cases. It seems that the severity of clinical signs and prognosis correlate well with the amount of toxin ingested. We conclude that early recognition and decontamination combined with supportive care results in complete recovery. PMID:20445777

THE RELATION OF BACTERIUM PNEUMOSINTES TO INFLUENZA: A STUDY WITH A STRAIN OF THE ORGANISM DERIVED FROM THE NASOPHARYNGEAL WASHINGS OF A CASE OF INFLUENZA

PubMed Central

Hall, Milton W.

1926-01-01

Nasopharyngeal washings from a case of epidemic influenza have proven capable of initiating a pathological change in rabbits and in guinea pigs characterized after an incubation period of 1 or 2 days, by some elevation of temperature, reduction in the number of circulating leucocytes, especially of the mononuclears, and by a pulmonary lesion during the period of reaction, which is distinguishable from those accidentally incurred at the time of death. From one such animal, in the second passage of the virus, an anaerobic coccobacius, corresponding in all respects to Bact. pneumosintes, was isolated by the method employed by Olitsky and Gates. This organism also proved capable of initiating the pathological change in animals found after inoculation with influenzal material. The observation of Olitsky and Gates that the presence of this organism in the lungs of experimental animals predisposes to pulmonary localization of other bacteria with the production of definite pneumonic lesions has been confirmed. Bact. pneumosintes infections may be induced by subcutaneous injection of infected material. PMID:19869205

Negative βhCG and Molar Pregnancy: The Hook Effect.

PubMed

Lobo Antunes, Isabel; Curado, Joana; Quintas, Ana; Pereira, Alcides

2017-09-29

Molar pregnancy, included in gestational trophoblastic disease, is a benign pathology with ability to metastasize, usually occurring with excessively high βhCG levels. Clinical scenario is usually a woman in extremes of reproductive age presenting with amenorrhoea, pain and vaginal blood loss; signs derived from high βhCG levels may be present (hyperthyroidism, hyperemesis). Diagnosis is based on a positive pregnancy test - usually a qualitative urinary test. The limitation of this test results from its inability to become positive in presence of markedly high levels of βhCG, saturating the antigens used - known as the 'hook effect'. With the widespread use of gynaecological ultrasound cases of molar pregnancy have been diagnosed in timely fashion. We describe a case referred as a degenerating fibroid, with a negative urinary pregnancy test. Transvaginal ultrasound was highly suggestive of molar pregnancy, which was confirmed with a quantitative βhCG test, allowing for timely treatment. The importance of a high index of suspicion for this pathology is tremendous to avoid the devastating consequences of a delayed diagnosis.

[Cowpox virus infection in an alpaca (Vicugna pacos) - clinical symptoms, laboratory diagnostic findings and pathological changes].

PubMed

Goerigk, D; Theuß, T; Pfeffer, M; Konrath, A; Kalthoff, D; Woll, D; Vahlenkamp, T W; Beer, M; Starke, A

2014-01-01

Orthopoxvirus infections appear to be rare in South American Camelids, because only a few cases have been reported in the literature. Based on a generalized infection with cowpox virus in an alpaca, the clinical symptoms, laboratory diagnostic findings and the pathological changes are described. The case history showed a long treatment because of chronic skin lesions. The main clinical symptom was miliary papules over the entire skin. Furthermore, a bilateral mucopurulent conjunctivitis occurred as well as excessive salivation due to a severe erosive-ulcerative stomatitis. Although the animal received intensive treatment, it died 8 days after admission to the clinic. During necropsy, an erosive-ulcerative laryngitis as well as a necrotising pneumonia and lymphadenitis were observed. Histopathological examination of representative organ samples led to the diagnosis of a suspected orthopoxvirus infection. Electron microscopy and quantitative polymerase chain reaction (qPCR) of tissue samples confirmed this diagnosis. The virus could be isolated in tissue culture and a PCR with subsequent nucleotide sequencing identified cowpox virus as the causative agent for this generalised infection.

PubMed

Monaca, C; Franco, P; Philip, P; Dauvilliers, Y

In the new international classification of sleep disorders (ICSD-3), narcolepsy is differentiated into two distinct pathologies: type 1 narcolepsy (NT1) and type 2 narcolepsy (NT2). NT1 is characterised by periods of an irrepressible need to sleep, cataplexy (a sudden loss of muscle tone triggered by emotion) and in some cases the presence of symptoms such as hypnagogic hallucinations, sleep paralysis and disturbed night-time sleep. Its physiopathology is based on the loss of hypocretin neurons in the hypothalamus, seemingly connected to an auto-immune process. By definition, cataplexy is absent and the hypocretin levels in the CSF are normal in NT2. Confirming the diagnosis requires polysomnography and multiple sleep latency tests. The choice of further investigations is based on the presence or absence of typical cataplexy. Further investigations include HLA typing, lumbar puncture to measure the hypocretin level in the CSF, or even brain imagery in the case of narcolepsy suspected to be secondary to an underlying pathology. In this consensus we propose recommendations for the work-up to be carried out during diagnosis and follow-up for patients suffering from narcolepsy. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Lessons learned about [F-18]-AV-1451 off-target binding from an autopsy-confirmed Parkinson's case.

PubMed

Marquié, Marta; Verwer, Eline E; Meltzer, Avery C; Kim, Sally Ji Who; Agüero, Cinthya; Gonzalez, Jose; Makaretz, Sara J; Siao Tick Chong, Michael; Ramanan, Prianca; Amaral, Ana C; Normandin, Marc D; Vanderburg, Charles R; Gomperts, Stephen N; Johnson, Keith A; Frosch, Matthew P; Gómez-Isla, Teresa

2017-10-19

[F-18]-AV-1451 is a novel positron emission tomography (PET) tracer with high affinity to neurofibrillary tau pathology in Alzheimer's disease (AD). PET studies have shown increased tracer retention in patients clinically diagnosed with dementia of AD type and mild cognitive impairment in regions that are known to contain tau lesions. In vivo uptake has also consistently been observed in midbrain, basal ganglia and choroid plexus in elderly individuals regardless of their clinical diagnosis, including clinically normal whose brains are not expected to harbor tau pathology in those areas. We and others have shown that [F-18]-AV-1451 exhibits off-target binding to neuromelanin, melanin and blood products on postmortem material; and this is important for the correct interpretation of PET images. In the present study, we further investigated [F-18]-AV-1451 off-target binding in the first autopsy-confirmed Parkinson's disease (PD) subject who underwent antemortem PET imaging. The PET scan showed elevated [F-18]-AV-1451 retention predominantly in inferior temporal cortex, basal ganglia, midbrain and choroid plexus. Neuropathologic examination confirmed the PD diagnosis. Phosphor screen and high resolution autoradiography failed to show detectable [F-18]-AV-1451 binding in multiple brain regions examined with the exception of neuromelanin-containing neurons in the substantia nigra, leptomeningeal melanocytes adjacent to ventricles and midbrain, and microhemorrhages in the occipital cortex (all reflecting off-target binding), in addition to incidental age-related neurofibrillary tangles in the entorhinal cortex. Additional legacy postmortem brain samples containing basal ganglia, choroid plexus, and parenchymal hemorrhages from 20 subjects with various neuropathologic diagnoses were also included in the autoradiography experiments to better understand what [F-18]-AV-1451 in vivo positivity in those regions means. No detectable [F-18]-AV-1451 autoradiographic binding was present in the basal ganglia of the PD case or any of the other subjects. Off-target binding in postmortem choroid plexus samples was only observed in subjects harboring leptomeningeal melanocytes within the choroidal stroma. Off-target binding to parenchymal hemorrhages was noticed in postmortem material from subjects with cerebral amyloid angiopathy. The imaging-postmortem correlation analysis in this PD case reinforces the notion that [F-18]-AV-1451 has strong affinity for neurofibrillary tau pathology but also exhibits off-target binding to neuromelanin, melanin and blood components. The robust off-target in vivo retention in basal ganglia and choroid plexus, in the absence of tau deposits, meningeal melanocytes or any other identifiable binding substrate by autoradiography in the PD case reported here, also suggests that the PET signal in those regions may be influenced, at least in part, by biological or technical factors that occur in vivo and are not captured by autoradiography.

Severe malaria - a case of fatal Plasmodium knowlesi infection with post-mortem findings: a case report

PubMed Central

2010-01-01

Background Zoonotic malaria caused by Plasmodium knowlesi is an important, but newly recognized, human pathogen. For the first time, post-mortem findings from a fatal case of knowlesi malaria are reported here. Case presentation A formerly healthy 40 year-old male became symptomatic 10 days after spending time in the jungle of North Borneo. Four days later, he presented to hospital in a state of collapse and died within two hours. He was hyponatraemic and had elevated blood urea, potassium, lactate dehydrogenase and amino transferase values; he was also thrombocytopenic and eosinophilic. Dengue haemorrhagic shock was suspected and a post-mortem examination performed. Investigations for dengue virus were negative. Blood for malaria parasites indicated hyperparasitaemia and single species P. knowlesi infection was confirmed by nested-PCR. Macroscopic pathology of the brain and endocardium showed multiple petechial haemorrhages, the liver and spleen were enlarged and lungs had features consistent with ARDS. Microscopic pathology showed sequestration of pigmented parasitized red blood cells in the vessels of the cerebrum, cerebellum, heart and kidney without evidence of chronic inflammatory reaction in the brain or any other organ examined. Brain sections were negative for intracellular adhesion molecule-1. The spleen and liver had abundant pigment containing macrophages and parasitized red blood cells. The kidney had evidence of acute tubular necrosis and endothelial cells in heart sections were prominent. Conclusions The overall picture in this case was one of systemic malaria infection that fit the WHO classification for severe malaria. Post-mortem findings in this case were unexpectedly similar to those that define fatal falciparum malaria, including cerebral pathology. There were important differences including the absence of coma despite petechial haemorrhages and parasite sequestration in the brain. These results suggest that further study of knowlesi malaria will aid the interpretation of, often conflicting, information on malaria pathophysiology in humans. PMID:20064229

Seronegative myasthenia gravis associated with malignant thymoma.

PubMed

Richards, Jason; Howard, James F

2017-05-01

Myasthenia gravis (MG) is generally caused by antibodies directed against the neuromuscular junction, including antibodies against the postsynaptic nicotinic acetylcholine receptor (AChR). Pathologic abnormalities of the thymus gland, including thymoma, are associated with MG. We report a 56-year-old woman who presented with double vision. Single fiber EMG confirmed myasthenia gravis. AChR, striational muscle and MuSK antibodies were absent in the serum. Chest CT demonstrated a malignant thymoma. We report the first case of seronegative myasthenia gravis associated with malignant thymoma. The case challenges the conventional wisdom that all patients with thymoma associated MG test positive for antibodies against AChR. Copyright © 2017 Elsevier B.V. All rights reserved.

Woman with virilizing congenital adrenal hyperplasia and Leydig cell tumor of the ovary.

PubMed

Fernández-García Salazar, Rosario; Muñoz-Darias, Carmen; Haro-Mora, Juan Jesús; Almaraz, M Cruz; Audí, Laura; Martínez-Tudela, Juana; Yahyaoui, Raquel; Esteva, Isabel

2014-08-01

We report the case of a 36-year-old woman with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, and corticosteroid replacement therapy since birth. She manifested persistent virilization and high testosterone levels that were attributed to nonadherence to medical treatment. The patient was referred to our gender unit for genitoplastic surgery. We recommended the patient for left oophorectomy after detecting an ovarian mass. Pathologic findings confirmed an ovarian hilus cell tumor. Testosterone levels fell back to normal and masculinization disappeared but ACTH remained elevated. This case represents a very rare type of primary ovarian tumor that must be considered in persistent virilizing symptoms in women with CAH.

[A very unusual pleural presentation].

PubMed

Vergne, F; Le Mao, R; Simonin, L; Descourt, R; Couturaud, F; Barnier, A; Tromeur, C

2018-05-01

Urinothorax refers to the presence of urine in the pleural space. Urinothorax is an infrequent and underdiagnosed pathology, with few cases reported, and these often suspected only with hindsight. It is usually a transudative pleural effusion. We report a case of urinothorax presenting as a purulent pleural effusion. Management of the urinothorax required antibiotics and surgical unblocking of the urinary tract. Currently, no test is available to confirm the diagnosis. The ratio of serum creatinine/pleural creatinine could suggest the presence of urinothorax but this parameter needs to be validated by complementary studies. Urinothorax should be suspected in the context of pleural effusion occurring after a recent urologic surgery. Copyright © 2018 SPLF. Published by Elsevier Masson SAS. All rights reserved.

Endometrial cancer occurence five years after breast cancer in BRCA2 mutation patient

PubMed Central

Oh, Sang Eun; Kim, Soo Hyun; Kim, Mee Seon

2015-01-01

We recently experienced a case of endometrial cancer 5 years after the diagnosis of breast cancer in a patient with a mutation in the BRCA2 gene. A 55-year-old Korean woman who had a past history of breast cancer in her 50s underwent an operation for endometrial cancer. Final pathology confirmed stage Ia, and no adjuvant treatment was performed. After surgery, considering her history of sequential cancer occurrence, genetic counseling was offered. The result showed the BRCA2 variation of unknown significance mutation. This is the first case report of sequential cancers (endometrial and breast) in a patient with a BRCA2 mutation among a Korean population. PMID:25798433

The role of ultrasound in the management of flexor tendon injuries.

PubMed

Jeyapalan, K; Bisson, M A; Dias, J J; Griffin, Y; Bhatt, R

2008-08-01

The use of ultrasound scanning to establish tendon pathologies was assessed retrospectively in 17 patients in 18 digits. The ultrasound scan demonstrated four patterns: (1) normal intact tendons in four, (2) ruptured tendons in three, (3) tendons in continuity but attenuated in five and (4) tendons in continuity but thickened with fibrosis and decreased movement representing adhesions in five patients. Surgery was undertaken in only three cases, confirming the ultrasound diagnosis in two. Surgery was offered to all three patients with ruptures but was declined by two. Ultrasound imaging helped to avoid surgery in 14 cases by excluding flexor tendon re-ruptures. This allowed on-going mobilisation, leading to recovery of function.

Invasive pulmonary aspergillosis and Influenza co-infection in immunocompetent hosts: case reports and review of the literature☆

PubMed Central

Shah, Melisa M.; Hsiao, Eric I.; Kirsch, Carl M.; Gohil, Amit; Narasimhan, Supriya; Stevens, David A.

2018-01-01

Invasive pulmonary aspergillosis (IPA) is classically considered an illness of severely immunocompromised patients with limited host defenses. However, IPA has been reported in immunocompetent but critically ill patients. This report describes two fatal cases of pathologically confirmed IPA in patients with Influenza in the intensive care unit. One patient had Influenza B infection, whereas the other had Influenza A H1N1. Both patients died despite broad-spectrum antimicrobials, mechanical ventilation, and vasopressor support. Microscopic and histologic postmortem examination confirmed IPA. Review of the English language and foreign literature indicates that galactomannan antigen testing and classic radiologic findings for IPA may not be reliable in immunocompetent patients. Respiratory cultures which grow Aspergillus species in critically ill patients, particularly those with underlying Influenza infection, should not necessarily be disregarded as contaminants or colonizers. Further research is needed to better understand the immunological relationship between Influenza and IPA for improved prevention and treatment of Influenza and Aspergillus co-infections. PMID:29454654

Skin, ear and testis--unusual sites of tuberculosis.

PubMed

Ene, Cătălina Elena; Toma, Claudia; Belaconi, Ionela; Dumitrache-Rujinski, Stefan; Jipa, Daniela; Tudor, Adrian; Leonte, Diana; Bogdan, Miron Alexandru

2016-01-01

Pulmonary localization is the most common site of tuberculosis (TB)and the most contagious form. Extrapulmonary tuberculosis with the rarest and most unexpected localizations represents a significant proportion of all cases of tuberculosis and remains an important public health problem. We report three unusual TB locations: skin, ear and testis occurred in three immunocompetent patients. In the case of skin and testicular lesions, diagnosis was based on pathological confirmation of granulomas with caseous necrosis. In the third case the diagnosis was made possible by identification of positive Acid-Fast Bacilli smear and positive culture from othic drainage fluid. The outcome at all three patients was good with antituberculous treatment. These unusual localization of tuberculosis also highlight the possibility of extrapulmonary tuberculosis as a differential diagnosis in many common diseases.

[Congenital intrahepatic venous shunt as a cause of hepatic encephalopathy].

PubMed

Cosme Jiménez, A; Bujanda Fernández de Piérola, L; Poch Zapiraín, M; Orcolaga Alba, R; Ojeda Pérez, E; Arenas Miravé, J I

1995-11-01

Macroscopic intrahepatic portosystemic shunts are extremely rare and may be due to liver injury, congenital vascular malformations or pathologic collaterals secondary to portal hypertension. Forty-eight cases have been reported in the literature up to 1994 with 50-60% presenting cerebral manifestations and 40% being associated with cirrhosis. The case of a patient without cirrhosis who was admitted for upper digestive hemorrhage secondary to gastroduodenal ulcer is described. At 48 hours the patient had an episode of hepatic encephalopathy coinciding with bleeding reactivation. Abdominal echography suggested communication between the right portal and suprahepatic veins and posterior angiography confirmed the diagnosis. Color Doppler echography determined shunt and portal vein blood flow. No case of intrahepatic portosystemic venous shunt as a cause of encephalopathy was found to have been reported in the Spanish literature.

Environmental exposures as a risk factor for fibrolamellar carcinoma.

PubMed

Graham, Rondell P; Craig, John R; Jin, Long; Oliveira, Andre M; Bergquist, John R; Truty, Mark J; Mounajjed, Taofic; Greipp, Patricia T; Torbenson, Michael S

2017-06-01

Fibrolamellar carcinoma was first described in 1956. Subsequent large studies failed to identify cases before 1939 (the start of the World War II). This finding, combined with the presence of aryl hydrocarbon receptors on the tumor cells, have suggested that fibrolamellar carcinomas may be caused by environmental exposures that are new since World War II. To investigate this possibility, the surgical pathology files before 1939 were reviewed for hepatocellular carcinomas resected in young individuals. Two cases of fibrolamellar carcinoma were identified, from 1915 to 1924. The diagnosis of fibrolamellar carcinoma was confirmed at the histologic, ultrastructural and proteomic levels. These two fibrolamellar carcinoma cases clarify a key aspect of fibrolamellar carcinoma biology, reducing the likelihood that these tumors result exclusively from post World War II environmental exposures.

Alveolar hydatidosis in a gorilla and a ring-tailed lemur in Japan.

PubMed

Kondo, H; Wada, Y; Bando, G; Kosuge, M; Yagi, K; Oku, Y

1996-05-01

Alveolar hydatidosis by Echinococcus multilocularis (Em) infection occurred on a 22-year-old (approx.) male gorilla (Gorilla gorilla) and a 4-year-old female ring-tailed lemur (Lemur catta) in a zoo, in Hokkaido, Japan. Case 1: The gorilla presented neurologic signs in course of nine months and died. Pathologically, alveolar hydatid lesions were found in the liver, the liver-associated lymph nodes, the cerebrum, and the lungs. A protoscolex was found only in one hepatic cyst. Case 2: In the lemur, large masses of hydatide cysts were found on the liver and at the lung-associated lymph nodes. Cysts contained numerous calcareous corpuscles and protoscolices. The lemur appears a favorable intermediate-host for Em. The identification of Em in both cases were confirmed by PCR.

Impact of immediate access to the electronic medical record on anatomic pathology performance.

PubMed

Renshaw, Andrew A; Gould, Edwin W

2013-07-01

To assess the overall impact of access to the electronic medical record (EMR) on anatomic pathology performance. We reviewed the results of all use of the EMR by 1 pathologist over an 18-month period. Of the 10,107 cases (913 cytology and 9,194 surgical pathology) reviewed, the EMR (excluding anatomic pathology records) was accessed in 222 (2.2% of all cases, 6.5% of all cytology cases, and 1.8% of all surgical pathology cases). The EMR was used to evaluate a critical value in 20 (9.0%) cases and make a more specific diagnosis in 77 (34.7%) cases, a less specific diagnosis in 4 (1.8%) cases, and a systemic rather than localized diagnosis in 4 (1.8%) cases. The percentage of cases in which the physician was contacted decreased from 7.3% for the prior 18 months to 6.7%, but this change was not significant (P = .13). Twelve cases were subsequently sent for interinstitutional consultation, and no disagreements were identified. The EMR was accessed in 2.2% of all surgical pathology and cytology cases and affected the diagnosis in 48% of these cases.

Audit of practice in sudden unexpected death in epilepsy (SUDEP) post mortems and neuropathological findings

PubMed Central

Michalak, Zuzanna; Wright, Gabriella; Dawson, Timothy; Hilton, David; Joshi, Abhijit; Diehl, Beate; Koepp, Matthias; Lhatoo, Samden; Sander, Josemir W.; Sisodiya, Sanjay M.

2015-01-01

Aims Sudden unexpected death in epilepsy (SUDEP) is one of the leading causes of death in people with epilepsy. For classification of definite SUDEP, a post mortem (PM), including anatomical and toxicological examination, is mandatory to exclude other causes of death. We audited PM practice as well as the value of brain examination in SUDEP. Methods We reviewed 145 PM reports in SUDEP cases from four UK neuropathology centres. Data were extracted for clinical epilepsy details, circumstances of death and neuropathological findings. Results Macroscopic brain abnormalities were identified in 52% of cases. Mild brain swelling was present in 28%, and microscopic pathologies relevant to cause or effect of seizures were seen in 89%. Examination based on whole fixed brains (76.6% of all PMs), and systematic regional sampling was associated with higher detection rates of underlying pathology (P < 0.01). Information was more frequently recorded regarding circumstances of death and body position/location than clinical epilepsy history and investigations. Conclusion Our findings support the contribution of examination of the whole fixed brain in SUDEP, with high rates of detection of relevant pathology. Availability of full clinical epilepsy‐related information at the time of PM could potentially further improve detection through targeted tissue sampling. Apart from confirmation of SUDEP, complete neuropathological examination contributes to evaluation of risk factors as well as helping to direct future research into underlying causes. PMID:26300477

Angioimmunoblastic T-cell lymphoma: more than a disease of T follicular helper cells.

PubMed

Lemonnier, François; Mak, Tak W

2017-08-01

Angioimmunoblastic T-cell lymphoma (AITL) is one of the most frequent entities of peripheral T-cell lymphoma. An AITL has two components: the AITL tumour cells, which have a T follicular helper (TFH) cell phenotype, and a surrounding and extensive tumour microenvironment that is populated with various reactive cell types, including B cells. Recurrent TET2 mutations have been described in 50-80% of AITLs, possibly occurring in a haematopoietic progenitor cell. An article published recently in the Journal of Pathology describes the use of microdissection to isolate PD1 + AITL tumour cells and CD20 + B cells from the AITL microenvironment, and to show that TET2 mutations are actually more frequent in these diseases than previously thought. Whereas TET2 mutations were detected in only six of 13 AITLs, 12 of 13 samples of microdissected PD1 + AITL tumour cells possessed this mutation. Moreover, TET2 mutations were detected in CD20 + B cells from the AITL microenvironment in six of nine informative cases. These results confirm that TET2 mutation is an early event in the majority of AITL cases, and that the driving molecular anomalies are not restricted to the T lineage tumour cells. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Social isolation and delayed discovery of bodies in houses: the value of forensic pathology, anthropology, odontology and entomology in the medico-legal investigation.

PubMed

Archer, M S; Bassed, R B; Briggs, C A; Lynch, M J

2005-07-16

The bodies of socially isolated people may remain undiscovered in their own houses for prolonged periods. Occasionally the body is in situ for sufficient time to become skeletonised, or partially so. Medico-legal investigation of these cases is complicated by degradation and contamination of evidence. Thus, a multidisciplinary forensic investigation is recommended. The potential contributions of forensic pathology, anthropology, odontology and entomology are outlined here with reference to two cases that occurred in Victoria, Australia, in 2003. Forensic pathologists are often unable to determine the cause of death in skeletonised bodies, however, they may find evidence to support either a natural or unnatural mode of death, and they may describe skeletal pathology or trauma, and identify skeletal features to support radiological identification of the deceased. Anthropologists can provide supplementary evidence of skeletal trauma. Additionally, they can assess age, sex, stature and racial affiliation from skeletal remains. Odontologists can identify individuals through comparison with ante-mortem dental records; however, potential difficulties exist in identifying the treating dentist of a socially isolated person. Odontologists may also examine the teeth and oro-facial skeleton for trauma. Entomologists may estimate minimum death time and/or season of death. Entomological examination of insect remains may also confirm that a body has lain in situ for a considerable period.

Convergence of pathology in dementia with Lewy bodies and Alzheimer’s disease: a role for the novel interaction of alpha-synuclein and presenilin 1 in disease

PubMed Central

Winslow, Ashley R.; Moussaud, Simon; Zhu, Liya; Post, Katherine L.; Dickson, Dennis W.

2014-01-01

A growing number of PSEN1 mutations have been associated with dementia with Lewy bodies and familial Alzheimer’s disease with concomitant α-synuclein pathology. The objective of this study was to determine if PSEN1 plays a direct role in the development of α-synuclein pathology in these diseases. Using mass spectrometry, immunoelectron microscopy and fluorescence lifetime image microscopy based on Forster resonance energy transfer (FLIM-FRET) we identified α-synuclein as a novel interactor of PSEN1 in wild-type mouse brain tissue. The interaction of α-synuclein with PSEN1 was detected in post-mortem brain tissue from cognitively normal cases and was significantly increased in tissue from cases with dementia with Lewy bodies and familial Alzheimer’s disease associated with known PSEN1 mutations. We confirmed an increased interaction of PSEN1 and α-synuclein in cell lines expressing well characterized familial Alzheimer’s disease PSEN1 mutations, L166P and delta exon 9, and demonstrated that PSEN1 mutations associate with increased membrane association and accumulation of α-synuclein. Our data provides evidence of a molecular interaction of PSEN1 and α-synuclein that may explain the clinical and pathophysiological overlap seen in synucleinopathies, including Parkinson’s disease, dementia with Lewy bodies, and some forms of Alzheimer’s disease. PMID:24860142

TDP-43 pathology in primary progressive aphasia and frontotemporal dementia with pathologic Alzheimer disease

PubMed Central

Mishra, Manjari; Hatanpaa, Kimmo J.; White, Charles L.; Johnson, Nancy; Rademaker, Alfred; Weitner, Bing Bing; Deng, Han-Xiang; Dubner, Steven D.; Weintraub, Sandra; Mesulam, Marsel

2010-01-01

The clinical syndrome of primary progressive aphasia (PPA) can be associated with a variety of neuropathologic diagnoses at autopsy. Thirty percent of cases have Alzheimer disease (AD) pathology, most often in the usual distribution, which defies principles of brain–behavior organization, in that aphasia is not symptomatic of limbic disease. The present study investigated whether concomitant TDP-43 pathology could resolve the lack of clinicoanatomic concordance. In this paper, 16 cases of clinical PPA and 10 cases of primarily non-aphasic frontotemporal dementia (FTD), all with AD pathology, were investigated to determine whether their atypical clinical phenotypes reflected the presence of additional TDP-43 pathology. A comparison group consisted of 27 cases of pathologic AD with the typical amnestic clinical phenotype of probable AD. Concomitant TDP-43 pathology was discovered in only three of the FTD and PPA but in more than half of the typical amnestic clinical phenotypes. Hippocampal sclerosis (HS) was closely associated with TDP-43 pathology when all groups were combined for analysis. Therefore, the clinical phenotypes of PPA and FTD in cases with pathologic AD are only rarely associated with TDP-43 proteinopathy. Furthermore, medial temporal TDP-43 pathology is more tightly linked to HS than to clinical phenotype. These findings challenge the current notions about clinicopathologic correlation, especially about the role of multiple pathologies. PMID:20361198

3D marker-controlled watershed for kidney segmentation in clinical CT exams.

PubMed

Wieclawek, Wojciech

2018-02-27

Image segmentation is an essential and non trivial task in computer vision and medical image analysis. Computed tomography (CT) is one of the most accessible medical examination techniques to visualize the interior of a patient's body. Among different computer-aided diagnostic systems, the applications dedicated to kidney segmentation represent a relatively small group. In addition, literature solutions are verified on relatively small databases. The goal of this research is to develop a novel algorithm for fully automated kidney segmentation. This approach is designed for large database analysis including both physiological and pathological cases. This study presents a 3D marker-controlled watershed transform developed and employed for fully automated CT kidney segmentation. The original and the most complex step in the current proposition is an automatic generation of 3D marker images. The final kidney segmentation step is an analysis of the labelled image obtained from marker-controlled watershed transform. It consists of morphological operations and shape analysis. The implementation is conducted in a MATLAB environment, Version 2017a, using i.a. Image Processing Toolbox. 170 clinical CT abdominal studies have been subjected to the analysis. The dataset includes normal as well as various pathological cases (agenesis, renal cysts, tumors, renal cell carcinoma, kidney cirrhosis, partial or radical nephrectomy, hematoma and nephrolithiasis). Manual and semi-automated delineations have been used as a gold standard. Wieclawek Among 67 delineated medical cases, 62 cases are 'Very good', whereas only 5 are 'Good' according to Cohen's Kappa interpretation. The segmentation results show that mean values of Sensitivity, Specificity, Dice, Jaccard, Cohen's Kappa and Accuracy are 90.29, 99.96, 91.68, 85.04, 91.62 and 99.89% respectively. All 170 medical cases (with and without outlines) have been classified by three independent medical experts as 'Very good' in 143-148 cases, as 'Good' in 15-21 cases and as 'Moderate' in 6-8 cases. An automatic kidney segmentation approach for CT studies to compete with commonly known solutions was developed. The algorithm gives promising results, that were confirmed during validation procedure done on a relatively large database, including 170 CTs with both physiological and pathological cases.

Genetics of Progressive Supranuclear Palsy.

PubMed

Im, Sun Young; Kim, Young Eun; Kim, Yun Joong

2015-09-01

Progressive supranuclear palsy (PSP) is a neurodegenerative syndrome that is clinically characterized by progressive postural instability, supranuclear gaze palsy, parkinsonism and cognitive decline. Pathologically, diagnosis of PSP is based on characteristic features, such as neurofibrillary tangles, neutrophil threads, tau-positive astrocytes and their processes in basal ganglia and brainstem, and the accumulation of 4 repeat tau protein. PSP is generally recognized as a sporadic disorder; however, understanding of genetic background of PSP has been expanding rapidly. Here we review relevant publications to outline the genetics of PSP. Although only small number of familial PSP cases have been reported, the recognition of familial PSP has been increasing. In some familial cases of clinically probable PSP, PSP pathologies were confirmed based on NINDS neuropathological diagnostic criteria. Several mutations in MAPT, the gene that causes a form of familial frontotemporal lobar degeneration with tauopathy, have been identified in both sporadic and familial PSP cases. The H1 haplotype of MAPT is a risk haplotype for PSP, and within H1, a sub-haplotype (H1c) is associated with PSP. A recent genome-wide association study on autopsyproven PSP revealed additional PSP risk alleles in STX6 and EIF2AK3. Several heredodegenerative parkinsonian disorders are referred to as PSP-look-alikes because their clinical phenotype, but not their pathology, mimics PSP. Due to the fast development of genomics and bioinformatics, more genetic factors related to PSP are expected to be discovered. Undoubtedly, these studies will provide a better understanding of the pathogenesis of PSP and clues for developing therapeutic strategies.

[Asthenic syndrome in patients with burnout syndrome].

PubMed

Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

2013-01-01

The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

[Retroperitoneal bronchogenic cyst treated by laparoscopic surgery].

PubMed

Rud, O; May, M; Brookman-Amissah, S; Moersler, J; Greiner, A; Gilfrich, C

2010-03-01

The diagnosis of primary retroperitoneal cystic tumors is very infrequent in surgical pathology. We report the case of a 51-year-old woman presenting with an incidental left-sided retroperitoneal mass (32 x 24 mm in diameter) suspected of being an adrenal tumor. Intraoperatively the tumor was identified as a cystic lesion filled with mucous secretion and laparoscopically completely resected. The diagnosis was histopathologically confirmed as a bronchogenic cyst. In this article the laparoscopic removal of such a rare benign congenital aberration resulting from an abnormal budding of the tracheobronchial tree is presented.

[Nasal glial heterotopia: Clinical and morphological characteristics].

PubMed

Bykova, V P; Bakhtin, A A; Polyakov, D P; Yunusov, A S; Daikhes, N A

The paper describes a case of nasal glial heterotopia in a 10-month-old girl with a mixed (intranasal and subcutaneous) localization, which is accompanied by the divergence of the nasal bones. Histological examination supplemented by immunohistochemical reactions with antibodies to vimentin, S100 protein, neuron-specific enolase, as well as Ki-67 and smooth muscle actin confirmed the neural nature of the tumor. Fields of mature astrocytic glia including individual cells with neuronal differentiation were found among the fibrous and fibrovascular tissues. The paper provides a brief overview of the discussed pathology.

Aggressive hemangioma of the thoracic spine.

PubMed

Schrock, Wesley B; Wetzel, Raun J; Tanner, Stephanie C; Khan, Majid A

2011-01-01

Vertebral hemangiomas are common lesions and usually considered benign. A rare subset of them, however, are characterized by extra-osseous extension, bone expansion, disturbance of blood flow, and occasionally compression fractures and thereby referred to as aggressive hemangiomas. We present a case of a 67-year-old woman with progressive paraplegia and an infiltrative mass of T4 vertebra causing mass effect on the spinal cord. Multiple conventional imaging modalities were utilized to suggest the diagnosis of aggressive hemangioma. Final pathologic diagnosis after decompressive surgery confirmed the diagnosis of an osseous hemangioma.

Aggressive hemangioma of the thoracic spine

PubMed Central

Schrock, Wesley B.; Wetzel, Raun J.; Tanner, Stephanie C.; Khan, Majid A.

2011-01-01

Vertebral hemangiomas are common lesions and usually considered benign. A rare subset of them, however, are characterized by extra-osseous extension, bone expansion, disturbance of blood flow, and occasionally compression fractures and thereby referred to as aggressive hemangiomas. We present a case of a 67-year-old woman with progressive paraplegia and an infiltrative mass of T4 vertebra causing mass effect on the spinal cord. Multiple conventional imaging modalities were utilized to suggest the diagnosis of aggressive hemangioma. Final pathologic diagnosis after decompressive surgery confirmed the diagnosis of an osseous hemangioma. PMID:22470764

[Aneurysm of the extracranial portion of the internal carotid artery combined with kinking of its distal segment].

PubMed

Zotov, S P; Shcherbakov, A V; Ufimtsev, M S; Kostromitin, N E; Semashko, T V; Korzina, E N; Tsar'kova, T A; Zharov, K A

Presented herein is a clinical case report regarding successful operation for an aneurysm of the left internal carotid artery (measuring 4.5*8.3 cm) combined with pathological tortuosity in its distal portion. The patient was subjected to aneurysmectomy of the left internal carotid artery with prosthetic repair. Kinking in the distal portion of the aneurysm made it possible with minimal technical difficulties to establish a distal anastomosis during prosthetic repair. The diagnosis of an atherosclerotic-aetiology aneurysm was morphologically confirmed.

Pathology and polymerase chain reaction detection of ovine progressive pneumonia (maedi) cases in slaughtered sheep in India

PubMed Central

Singh, Rahul; Kumar, Pawan; Singh, Rajendra; Dhama, Kuldeep; Kumari, Swati; Yadav, Jay Prakash; Kashyap, Gayatri; Singh, Karam Pal; Singh, Vidya; Sahoo, Monalisa

2017-01-01

Aim: The small ruminant lentiviruses are known to cause maedi-visna (MV) and caprine arthritis - encephalitis in sheep and goats, typically affecting joints, udder, lungs, and the central nervous system. The diagnosis usually involves serology, clinical signs, immunohistochemistry, and polymerase chain reaction (PCR). In the present study, the histopathologically positive pneumonia cases of MV were confirmed by PCR in lung tissue probably for the first time in India. Materials and Methods: A total of 888 lungs of adult sheep, aged between 2 and 5 years, were screened during slaughter, of which 121 were found to have pneumonic lesions. The tissues from each pneumonic lung including associated lymph nodes were collected in 10% neutral buffered formalin for histopathology. The frozen tissues of the same were also collected and stored at −20°C for PCR confirmation. Results: Three of 121 cases of pneumonic lungs of sheep revealed gross and histopathological lesions suggestive of maedi or ovine progressive pneumonia infection. These 3 cases were further confirmed by PCR technique that amplified 291-base pair DNA in the long terminal repeat sequence of MV provirus. Conclusion: This study suggests the low occurrence of MV virus (MVV) infection in India in naturally affected sheep based on pathomorphological lesions and using the molecular tool of PCR detection of the virus in tissues. Further, a combination of pathomorphology or/and PCR testing might be optimal for detecting the animals infected with MVV. PMID:29263606

Reliable landmarks for precise topographical analyses of pathological structural changes of the ovine tibial plateau in 2-D and 3-D subspaces.

PubMed

Oláh, Tamás; Reinhard, Jan; Gao, Liang; Goebel, Lars K H; Madry, Henning

2018-01-08

Selecting identical topographical locations to analyse pathological structural changes of the osteochondral unit in translational models remains difficult. The specific aim of the study was to provide objectively defined reference points on the ovine tibial plateau based on 2-D sections of micro-CT images useful for reproducible sample harvesting and as standardized landmarks for landmark-based 3-D image registration. We propose 5 reference points, 11 reference lines and 12 subregions that are detectable macroscopically and on 2-D micro-CT sections. Their value was confirmed applying landmark-based rigid and affine 3-D registration methods. Intra- and interobserver comparison showed high reliabilities, and constant positions (standard errors < 1%). Spatial patterns of the thicknesses of the articular cartilage and subchondral bone plate were revealed by measurements in 96 individual points of the tibial plateau. As a case study, pathological phenomena 6 months following OA induction in vivo such as osteophytes and areas of OA development were mapped to the individual subregions. These new reference points and subregions are directly identifiable on tibial plateau specimens or macroscopic images, enabling a precise topographical location of pathological structural changes of the osteochondral unit in both 2-D and 3-D subspaces in a region-appropriate fashion relevant for translational investigations.

Lumbar vertebral haemangioma causing pathological fracture, epidural haemorrhage, and cord compression: a case report and review of literature.

PubMed

Vinay, S; Khan, S K; Braybrooke, J R

2011-01-01

Vertebral haemangiomas are recognized to be one of the commonest benign tumours of the vertebral column, occurring mostly in the thoracic spine. The vast majority of these are asymptomatic. Infrequently, these can turn symptomatic and cause neurological deficit (cord compression) through any of four reported mechanisms: (1) epidural extension; (2) expansion of the involved vertebra(e) causing spinal canal stenosis; (3) spontaneous epidural haemorrhage; (4) pathological burst fracture. Thoracic haemangiomas have been reported to be more likely to produce cord compression than lumbar haemangiomas. A forty-nine year old male with acute onset spinal cord compression from a pathological fracture in a first lumbar vertebral haemangioma. An MRI delineated the haemangioma and extent of bleeding that caused the cord compression. These were confirmed during surgery and the haematoma was evacuated. The spine was instrumented from T12 to L2, and a cement vertebroplasty was performed intra-operatively. Written consent for publication was obtained from the patient. The junctional location of the first lumbar vertebra, and the structural weakness from normal bone being replaced by the haemangioma, probably caused it to fracture under axial loading. This pathological fracture caused bleeding from the vascularized bone, resulting in cord compression.

Lumbar vertebral haemangioma causing pathological fracture, epidural haemorrhage, and cord compression: a case report and review of literature

PubMed Central

Vinay, S; Khan, SK; Braybrooke, JR

2011-01-01

Context Vertebral haemangiomas are recognized to be one of the commonest benign tumours of the vertebral column, occurring mostly in the thoracic spine. The vast majority of these are asymptomatic. Infrequently, these can turn symptomatic and cause neurological deficit (cord compression) through any of four reported mechanisms: (1) epidural extension; (2) expansion of the involved vertebra(e) causing spinal canal stenosis; (3) spontaneous epidural haemorrhage; (4) pathological burst fracture. Thoracic haemangiomas have been reported to be more likely to produce cord compression than lumbar haemangiomas. Findings A forty-nine year old male with acute onset spinal cord compression from a pathological fracture in a first lumbar vertebral haemangioma. An MRI delineated the haemangioma and extent of bleeding that caused the cord compression. These were confirmed during surgery and the haematoma was evacuated. The spine was instrumented from T12 to L2, and a cement vertebroplasty was performed intra-operatively. Written consent for publication was obtained from the patient. Clinical Relevance The junctional location of the first lumbar vertebra, and the structural weakness from normal bone being replaced by the haemangioma, probably caused it to fracture under axial loading. This pathological fracture caused bleeding from the vascularized bone, resulting in cord compression. PMID:21756575

Clear Cell Carcinoma of the Penis: An HPV-related Variant of Squamous Cell Carcinoma: A Report of 3 Cases.

PubMed

Sanchez, Diego F; Rodriguez, Ingrid M; Piris, Adriano; Cañete, Sofía; Lezcano, Cecilia; Velazquez, Elsa F; Fernandez-Nestosa, Maria J; Mendez-Pena, Javier E; Hoang, Mai P; Cubilla, Antonio L

2016-07-01

Penile clear cell carcinoma originating in skin adnexal glands has been previously reported. Here, we present 3 morphologically distinctive penile tumors with prominent clear cell features originating not in the penile skin but in the mucosal tissues of the glans surface squamous epithelium. Clinical and pathologic features were evaluated. Immunohistochemical stains were GATA3 and p16. Human papilloma virus (HPV) detection by in situ hybridization was performed in 3 cases, and whole-tissue section-polymerase chain reaction was performed in 1 case. Patients' ages were 52, 88, and 95 years. Tumors were large and involved the glans and coronal sulcus in all cases. Microscopically, nonkeratinizing clear cells predominated. Growth was in solid nests with comedo-like or geographic necrosis. Focal areas of invasive warty or basaloid carcinomas showing in addition warty or basaloid penile intraepithelial neoplasia were present in 2 cases. There was invasion of corpora cavernosa, lymphatic vessels, veins, and perineural spaces in all cases. p16 was positive, and GATA3 stain was negative in the 3 cases. HPV was detected in 3 cases by in situ hybridization and in 1 case by polymerase chain reaction. Differential diagnoses included other HPV-related penile carcinomas, skin adnexal tumors, and metastatic renal cell carcinoma. Features that support primary penile carcinoma were tumor location, concomitant warty and/or basaloid penile intraepithelial neoplasia, and HPV positivity. Clinical groin metastases were present in all cases, pathologically confirmed in 1. Two patients died from tumor dissemination at 9 and 12 months after penectomy. Clear cell carcinoma, another morphologic variant related to HPV, originates in the penile mucosal surface and is probably related to warty carcinomas.

[Clinical Value of Cell Block in the Diagnosis of Malignant Pleural Effusion].

PubMed

Wang, Xintong; Cheng, Fangyuan; Zhong, Diansheng; Zhang, Lisha; Meng, Fanlu; Shao, Yi; Yu, Tao

2017-06-20

Malignant pleural effusion (MPE) is due tumor which arises from the mesothelium or metastases from tumor origniating other sites. Generally, the prognosis of MPE is poor, in the premise of reducing the pain of patients, as soon as possible make clear the property of pleural effusion and cause of the disesease, rightly and quickly, providing effective information for subsequent treatment. The cell block of 103 patients by using natural sedimentation or plasma coagulation method combined with HE staining and immunohistochemical staining method maked clear diagnosis and compared with other methods. 90 patients were diagnosed by cell block section from 103 patients who had MPE (diagnostic rate 87.4%); 32 cases were diagnosed by cell block section only, 74 cases pointed out that the pathological type , 23 cases even pointed out the primary lesions; 71 cases examined other invasive methods at the same time, the diagnostic rate was 87.3% and 81.7%; the detection rate of cell block section and cytological smear in detecting malignant tumor cells was 86.7%and 44.0% respectively. Cell block can not only increase the diagnosis, in contrast to cytological smear, and own the same diagnostic rate compared with other invasive methods, but also can confirm pathological type and primary lesion; especially, for other invasive methods, cell block method is a preferable complementary method, and that cell block method maybe the only way for some patients.

Perivascular Epithelioid Cell Tumor of Gastrointestinal Tract

PubMed Central

Lu, Biyan; Wang, Chenliang; Zhang, Junxiao; Kuiper, Roland P.; Song, Minmin; Zhang, Xiaoli; Song, Shunxin; van Kessel, Ad Geurts; Iwamoto, Aikichi; Wang, Jianping; Liu, Huanliang

2015-01-01

Perivascular epithelioid cell tumors of gastrointestinal tract (GI PEComas) are exceedingly rare, with only a limited number of published reports worldwide. Given the scarcity of GI PEComas and their relatively short follow-up periods, our current knowledge of their biologic behavior, molecular genetic alterations, diagnostic criteria, and prognostic factors continues to be very limited. We present 2 cases of GI PEComas, one of which showed an aggressive histologic behavior that underwent multiple combined chemotherapies. We also review the available English-language medical literature on GI PEComas-not otherwise specified (PEComas-NOS) and discuss their clinicopathological and molecular genetic features. Pathologic analyses including histomorphologic, immunohistochemical, and ultrastructural studies were performed to evaluate the clinicopathological features of GI PEComas, their diagnosis, and differential diagnosis. Immunohistochemistry, semiquantitative reverse transcriptase polymerase chain reaction, and DNA sequencing assays were carried out to detect the potential molecular genetic alterations in our cases Microscopically, the tumors showed distinctive histologic features of PEComas-NOS, including fascicular or nested architecture, epithelioid or spindled cell type, and clear to eosinophilic cytoplasm. The tumor cells were immunohistochemically positive for melanocytic markers. Molecular pathological assays confirmed a PSF-TFE3 gene fusion in one of our cases. Furthermore, in this case microphthalmia-associated transcription factor and its downstream genes were found to exhibit elevated transcript levels. Knowledge about the molecular genetic alterations in GI PEComas is still limited and warrants further study. PMID:25621681

Rare Solitary Fibrous Tumor in the Pediatric Neck: A Case Report and Review of the Literature

PubMed Central

Cox, Eric L; Schwartz, Erich J; Korkigian, Shant A

2017-01-01

Solitary fibrous tumors (SFT) are a rare type of mesenchymal-derived tumor not commonly found in the pediatric population, especially in the head and neck. Tumors of this nature are most commonly seen in the adult population and are identified with unique immunohistochemical markers, specifically signal transducer and activator of transcription 6 (STAT6) and hematopoietic progenitor cell antigen (CD34). Including SFTs in the differential diagnosis while working up a mass can be difficult considering their relatively non-descript appearance on imaging and the low yield immunohistochemical staining that must be ordered to confirm diagnosis. The current literature identifies only a handful of cases of SFTs occurring in the pediatric population, with a majority arising from the pleura. We present the case of a 13-year-old male who underwent radical excision of a left occipital triangle neck mass after radiological and pathological workup failed to conclusively make a diagnosis. Postoperative pathologic analysis revealed it to be an SFT. Due to the exceptionally rare presentation of SFTs in pediatric patients, the aim of this case report is to discuss diagnostic measures, solitary fibrous tumor etiology, as well as a recent risk stratification system used for the evaluation of postoperative disease progression. Our hope is that clinicians will include SFTs in their differential diagnosis when working up a neck mass in the pediatric population. PMID:28484679

Using the Disease State Fingerprint Tool for Differential Diagnosis of Frontotemporal Dementia and Alzheimer's Disease

PubMed Central

Muñoz-Ruiz, Miguel Ángel; Hall, Anette; Mattila, Jussi; Koikkalainen, Juha; Herukka, Sanna-Kaisa; Husso, Minna; Hänninen, Tuomo; Vanninen, Ritva; Liu, Yawu; Hallikainen, Merja; Lötjönen, Jyrki; Remes, Anne M.; Alafuzoff, Irina; Soininen, Hilkka; Hartikainen, Päivi

2016-01-01

Background Disease State Index (DSI) and its visualization, Disease State Fingerprint (DSF), form a computer-assisted clinical decision making tool that combines patient data and compares them with cases with known outcomes. Aims To investigate the ability of the DSI to diagnose frontotemporal dementia (FTD) and Alzheimer's disease (AD). Methods The study cohort consisted of 38 patients with FTD, 57 with AD and 22 controls. Autopsy verification of FTD with TDP-43 positive pathology was available for 14 and AD pathology for 12 cases. We utilized data from neuropsychological tests, volumetric magnetic resonance imaging, single-photon emission tomography, cerebrospinal fluid biomarkers and the APOE genotype. The DSI classification results were calculated with a combination of leave-one-out cross-validation and bootstrapping. A DSF visualization of a FTD patient is presented as an example. Results The DSI distinguishes controls from FTD (area under the receiver-operator curve, AUC = 0.99) and AD (AUC = 1.00) very well and achieves a good differential diagnosis between AD and FTD (AUC = 0.89). In subsamples of autopsy-confirmed cases (AUC = 0.97) and clinically diagnosed cases (AUC = 0.94), differential diagnosis of AD and FTD performs very well. Conclusions DSI is a promising computer-assisted biomarker approach for aiding in the diagnostic process of dementing diseases. Here, DSI separates controls from dementia and differentiates between AD and FTD. PMID:27703465

Clinicopathologic consensus study of gray zone lymphoma with features intermediate between DLBCL and classical HL.

PubMed

Pilichowska, Monika; Pittaluga, Stefania; Ferry, Judith A; Hemminger, Jessica; Chang, Hong; Kanakry, Jennifer A; Sehn, Laurie H; Feldman, Tatyana; Abramson, Jeremy S; Kritharis, Athena; Hernandez-Ilizaliturri, Francisco J; Lossos, Izidore S; Press, Oliver W; Fenske, Timothy S; Friedberg, Jonathan W; Vose, Julie M; Blum, Kristie A; Jagadeesh, Deepa; Woda, Bruce; Gupta, Gaurav K; Gascoyne, Randy D; Jaffe, Elaine S; Evens, Andrew M

2017-12-12

Gray zone lymphoma (GZL) is described as sharing features with classical Hodgkin lymphoma (cHL) and diffuse large B-cell lymphoma (DLBCL). However, there remains complexity in establishing diagnosis, delineating prognosis, and determining optimum therapy. Sixty-eight cases diagnosed as GZL across 15 North American academic centers were evaluated by central pathology review to achieve consensus. Of these, only 26 (38%) were confirmed as GZL. Morphology was critical to GZL consensus diagnosis (eg, tumor cell richness); immunohistochemistry showed universal B-cell derivation, frequent CD30 expression, and rare Epstein-Barr virus (EBV) positivity (CD20 + , 83%; PAX5 + , 100%; BCL6 + , 20%; MUM1 + , 100%; CD30 + , 92%; EBV + , 4%). Forty-two cases were reclassified: nodular sclerosis (NS) cHL, n = 27 (including n = 10 NS grade 2); lymphocyte predominant HL, n = 4; DLBCL, n = 4; EBV + DLBCL, n = 3; primary mediastinal large BCL n = 2; lymphocyte-rich cHL and BCL-not otherwise specified, n = 1 each. GZL consensus-confirmed vs reclassified cases, respectively, more often had mediastinal disease (69% vs 41%; P = .038) and less likely more than 1 extranodal site (0% vs 25%; P = .019). With a 44-month median follow-up, 3-year progression-free survival (PFS) and overall survival for patients with confirmed GZL were 39% and 95%, respectively, vs 58% and 85%, respectively, for reclassified cases ( P = .19 and P = .15, respectively). Interestingly, NS grade 2 reclassified patients had similar PFS as GZL consensus-confirmed cases. For prognostication of GZL cases, hypoalbuminemia was a negative factor (3-year PFS, 12% vs 64%; P = .01), whereas frontline cyclophosphamide, doxorubicin, vincristine, and prednisone ± rituximab (CHOP±R) was associated with improved 3-year PFS (70% vs 20%; P = .03); both factors remained significant on multivariate analysis. Altogether, accurate diagnosis of GZL remains challenging, and improved therapeutic strategies are needed.

Clinicopathologic consensus study of gray zone lymphoma with features intermediate between DLBCL and classical HL

PubMed Central

Pilichowska, Monika; Pittaluga, Stefania; Ferry, Judith A.; Hemminger, Jessica; Chang, Hong; Kanakry, Jennifer A.; Sehn, Laurie H.; Feldman, Tatyana; Abramson, Jeremy S.; Kritharis, Athena; Hernandez-Ilizaliturri, Francisco J.; Lossos, Izidore S.; Press, Oliver W.; Fenske, Timothy S.; Friedberg, Jonathan W.; Vose, Julie M.; Blum, Kristie A.; Jagadeesh, Deepa; Woda, Bruce; Gupta, Gaurav K.; Gascoyne, Randy D.; Jaffe, Elaine S.

2017-01-01

Gray zone lymphoma (GZL) is described as sharing features with classical Hodgkin lymphoma (cHL) and diffuse large B-cell lymphoma (DLBCL). However, there remains complexity in establishing diagnosis, delineating prognosis, and determining optimum therapy. Sixty-eight cases diagnosed as GZL across 15 North American academic centers were evaluated by central pathology review to achieve consensus. Of these, only 26 (38%) were confirmed as GZL. Morphology was critical to GZL consensus diagnosis (eg, tumor cell richness); immunohistochemistry showed universal B-cell derivation, frequent CD30 expression, and rare Epstein-Barr virus (EBV) positivity (CD20+, 83%; PAX5+, 100%; BCL6+, 20%; MUM1+, 100%; CD30+, 92%; EBV+, 4%). Forty-two cases were reclassified: nodular sclerosis (NS) cHL, n = 27 (including n = 10 NS grade 2); lymphocyte predominant HL, n = 4; DLBCL, n = 4; EBV+ DLBCL, n = 3; primary mediastinal large BCL n = 2; lymphocyte-rich cHL and BCL–not otherwise specified, n = 1 each. GZL consensus-confirmed vs reclassified cases, respectively, more often had mediastinal disease (69% vs 41%; P = .038) and less likely more than 1 extranodal site (0% vs 25%; P = .019). With a 44-month median follow-up, 3-year progression-free survival (PFS) and overall survival for patients with confirmed GZL were 39% and 95%, respectively, vs 58% and 85%, respectively, for reclassified cases (P = .19 and P = .15, respectively). Interestingly, NS grade 2 reclassified patients had similar PFS as GZL consensus-confirmed cases. For prognostication of GZL cases, hypoalbuminemia was a negative factor (3-year PFS, 12% vs 64%; P = .01), whereas frontline cyclophosphamide, doxorubicin, vincristine, and prednisone ± rituximab (CHOP±R) was associated with improved 3-year PFS (70% vs 20%; P = .03); both factors remained significant on multivariate analysis. Altogether, accurate diagnosis of GZL remains challenging, and improved therapeutic strategies are needed. PMID:29296913

Delayed chronic intracranial subdural hematoma complicating resection of a tanycytic thoracic ependymoma.

PubMed

Maugeri, Rosario; Giugno, Antonella; Graziano, Francesca; Visocchi, Massimiliano; Giller, Cole; Iacopino, Domenico Gerardo

2016-01-01

To demonstrate that the diagnosis of an intracranial subdural hematoma should be considered for patients presenting with acute or delayed symptoms of intracranial pathology following resection of a spinal tumor. We present a case of a 57-year-old woman found to have a chronic subdural hematoma 1 month following resection of a thoracic extramedullary ependymoma. Evacuation of the hematoma through a burr hole relieved the presenting symptoms and signs. Resolution of the hematoma was confirmed with a computed tomography (CT) scan. Headache and other symptoms not referable to spinal pathology should be regarded as a warning sign of an intracranial subdural hematoma, and a CT scan of the head should be obtained. The mechanism of the development of the hematoma may be related to the leakage of cerebrospinal fluid with subsequent intracranial hypotension leading to an expanding subdural space and hemorrhage.

Infrared thermography based on artificial intelligence as a screening method for carpal tunnel syndrome diagnosis.

PubMed

Jesensek Papez, B; Palfy, M; Mertik, M; Turk, Z

2009-01-01

This study further evaluated a computer-based infrared thermography (IRT) system, which employs artificial neural networks for the diagnosis of carpal tunnel syndrome (CTS) using a large database of 502 thermal images of the dorsal and palmar side of 132 healthy and 119 pathological hands. It confirmed the hypothesis that the dorsal side of the hand is of greater importance than the palmar side when diagnosing CTS thermographically. Using this method it was possible correctly to classify 72.2% of all hands (healthy and pathological) based on dorsal images and > 80% of hands when only severely affected and healthy hands were considered. Compared with the gold standard electromyographic diagnosis of CTS, IRT cannot be recommended as an adequate diagnostic tool when exact severity level diagnosis is required, however we conclude that IRT could be used as a screening tool for severe cases in populations with high ergonomic risk factors of CTS.

Surgically treated de novo cervico-medullary arachnoid cyst in a symptomatic adult patient.

PubMed

Clifton, William; Rahmathulla, Gazanfar; Tavanaiepour, Kourosh; Alcindor, Dunbar; Jakubek, George; Tavanaiepour, Daryoush

2018-05-16

Arachnoid cysts are a relatively common finding in adult patients, especially with the advent of advanced imaging techniques. The overall incidence ranges from 1-2%, and the majority are clinically silent 1,2 . Arachnoid cysts are postulated to arise by congenital anomalies or trauma 1 . De novo formation of arachnoid cysts has been reported, but is exceptionally rare and mostly found in the pediatric population after head trauma 3-5 . There have only been two reported cases of symptomatic de novo arachnoid cyst formation in adult patients to date, both with histories of head trauma 6,7 . We present a case of a 71-year-old male patient with progressive vertigo who had previous brain MRI studies without abnormalities. Another MRI was performed three years from the last study that showed interval development of a large cystic lesion compressing the right cervicomedullary junction, as well as radiologic evidence of neurosarcoidosis. Intraoperative findings showed a cystic mass with clear, gelatinous fluid. The cyst was drained and the walls were resected and sent to pathology. Histopathologic testing confirmed the lesion was an arachnoid cyst. The patient's vertiginous symptoms improved after surgery. This case represents the first incidence of a pathology proven, non-traumatic de novo arachnoid cyst. Copyright © 2018 Elsevier Inc. All rights reserved.

Pathology reporting of malignant pleural mesothelioma first diagnosis: A population-based approach.

PubMed

Ascoli, Valeria; Minelli, Giada; Cozzi, Ilaria; Romeo, Elisa; Carnovale Scalzo, Caterina; Ancona, Laura; Forastiere, Francesco

2016-10-01

Accurate pathologic diagnosis and reporting in malignant pleural mesothelioma are essential for clinical care, and cancer registration. Practical guidelines for pathologists are provided in publications and textbooks but it is unclear how these recommendations are applied in routine practice. We investigated the characteristics of pathology reports, and the extent to which they meet guideline standards. We reviewed 819 pathology reports relating to a first diagnosis of malignant pleural mesothelioma. Data sources were a regional section of the Italian network of the Mesothelioma Registry (2001-2014) and a pathology archive (1990-2000). We evaluated tumor characteristics, the diagnosis field including terminology and immunohistochemistry (IHC) workup, and report completeness (the proportion of items recorded). We investigated also two IHC panels identified by the most used markers in current practical guidelines, one best suited for epithelioid mesotheliomas (combinations of at least 2 positive and at least 2 negative mesothelioma markers) and the other best suited for sarcomatoid mesotheliomas (positive mesothelioma markers plus cytokeratins). Reports (753 histology, 66 cytology, IHC-confirmed 86%) were 74% complete and always narrative. Missing data were related to clinical history (76%), tumor laterality (61%), specimen size (38%), and histological subtype (23%). The proportion of cases with IHC was higher for epithelioid (90%) than sarcomatoid mesothelioma (87%). Compliance to IHC recommendations was higher for epithelioid (59%) than sarcomatoid mesothelioma (11%). The mean number of stains was significantly higher for sarcomatoid than epithelioid mesothelioma (p<0.000; Kruskal-Wallis test). Our findings show that although guidelines are designed to improve actual reporting practices, there is ample room for improvement in their application to standardize the diagnosis of mesothelioma. Synoptic pathology reporting needs to be implemented to better utilize pathology information. Copyright © 2016 Elsevier GmbH. All rights reserved.

Fatal methanol poisoning: features of liver histopathology.

PubMed

Akhgari, Maryam; Panahianpour, Mohammad Hadi; Bazmi, Elham; Etemadi-Aleagha, Afshar; Mahdavi, Amirhosein; Nazari, Saeed Hashemi

2013-03-01

Methanol poisoning has become a considerable problem in Iran. Liver can show some features of poisoning after methanol ingestion. Therefore, our concern was to examine liver tissue histopathology in fatal methanol poisoning cases in Iranian population. In this study, 44 cases of fatal methanol poisoning were identified in a year. The histological changes of the liver were reviewed. The most striking features of liver damage by light microscopy were micro-vesicular steatosis, macro-vesicular steatosis, focal hepatocyte necrosis, mild intra-hepatocyte bile stasis, feathery degeneration and hydropic degeneration. Blood and vitreous humor methanol concentrations were examined to confirm the proposed history of methanol poisoning. The majority of cases were men (86.36%). In conclusion, methanol poisoning can cause histological changes in liver tissues. Most importantly in cases with mean blood and vitreous humor methanol levels greater than 127 ± 38.9 mg/dL more than one pathologic features were detected.

[Secondary amyloidosis of the bladder and massive hematuria].

PubMed

García-Escudero López, A; Arruza Echevarría, A; Leunda Saizar, J; Infante Riaño, R; Padilla Nieva, J; Ortiz Barredo, E

2010-01-01

To report four additional cases of secondary amyloidosis of the bladder, an extremely rare condition, as shown by the cases reported in the literature. Four clinical cases are reported, all of them occurring as hematuria, which was massive and fulminant and resulted in death in three patients. Secondary amyloidosis of the bladder is of the AA type, which is more common in females and mainly secondary to rheumatoid arthritis, but also to ankylosing spondylitis and long-standing chronic inflammatory conditions. Hematuria is the main and virtually only symptom. A pathological and immunohistochemical study confirmed diagnosis. All three patients who experienced massive, fatal hematuria had an intercurrent condition requiring urethral catheterization, which was the triggering factor. Despite its rarity, as shown by the few cases reported, secondary amyloidosis of the bladder should be considered in patients already diagnosed with systemic amyloidosis and/or the conditions reported who require simple urethral catheterization.

C3 Vertebral Metastases From Tongue Adenoid Cystic Carcinoma: A Rare Case Report.

PubMed

Feng, Helin; Wang, Jin; Guo, Peng; Xu, Jianfa; Feng, Jiangang

2015-07-01

We report a rare case involving a patient with C3 vertebral body metastasis secondary to adenoid cystic carcinoma of the tongue.Five years after local resection of the primary tumor, magnetic resonance imaging showed a metastasis located in the left posterior border of the C3 vertebral body. Additionally, multiple pulmonary metastases were identified by computed tomography. Based on these findings, the patient underwent C2-3, C3-4 discectomy; C3 corpectomy; and titanium mesh fusion with a Zephir plate. The diagnosis was confirmed by the pathology findings. During 6 months of follow-up, the patient showed improvement and return of function of the cervical vertebrae, with no serious complications.Because of the scarcity of cases of vertebral metastases from tumors of the tongue in the literature, we have reported this case to add to the available evidence regarding this rarely encountered condition.

Progressive supranuclear palsy: neuropathologically based diagnostic clinical criteria.

PubMed Central

Collins, S J; Ahlskog, J E; Parisi, J E; Maraganore, D M

1995-01-01

All cases examined postmortem at the Mayo Clinic that met the classic neuropathological criteria for progressive supranuclear palsy (PSP) were identified for retrospective clinical analyses. The necropsy material was re-examined by a second neuropathologist to confirm the pathological diagnosis of PSP, yielding 12 cases. A range of clinical signs were documented in these patients, with numerous findings beyond those noted in the original descriptions of this disorder. Atypical clinical findings included absence of supranuclear gaze palsy (two cases), prominent asymmetry (two), arm dystonia (two), upper limb apraxia (two), myoclonus (two), chorea (one), eyelid opening apraxia (one), and respiratory disturbance (one). A definite clinical diagnosis of PSP had been made during life in only eight of the 12 patients. From the retrospective analysis of these 12 cases, a set of clinical criteria were developed for the premortem diagnosis of PSP emphasising differences from other akinetic-rigid disorders. PMID:7876846

Pathological findings of uterine tumors preoperatively diagnosed as red degeneration of leiomyoma by MRI.

PubMed

Nakai, Go; Yamada, Takashi; Hamada, Takamitsu; Atsukawa, Natsuko; Tanaka, Yoshikazu; Yamamoto, Kiyohito; Higashiyama, Akira; Juri, Hiroshi; Nakamoto, Atsushi; Yamamoto, Kazuhiro; Hirose, Yoshinobu; Ohmichi, Masahide; Narumi, Yoshifumi

2017-07-01

Venous infarction of a leiomyoma is known as red degeneration of leiomyoma (RDL) and can be a cause of acute abdomen. Although magnetic resonance imaging (MRI) is the only modality that can depict the inner condition of a leiomyoma, the typical MR findings of RDL are sometimes identified incidentally even in asymptomatic patients. The purpose of this study is to clarify common pathological findings of uterine tumors preoperatively diagnosed as RDL by MRI. We diagnosed 28 cases of RDL by MRI from March 2007 to April 2015. The ten lesions subjected to pathological analysis after resection were included in the study and reviewed by a gynecological pathologist. The average time from MRI to operation was 4.7 months. The typical beefy-red color was not observed on the cut surface of the tumor except in one tumor resected during the acute phase. All lesions diagnosed as RDL by MRI had common pathological findings consistent with red degeneration of leiomyoma, including coagulative necrosis. Other common pathological features of RDL besides extensive coagulative necrosis appear to be a lack of inflammatory cell infiltrate or hemorrhage in the entire lesion. Although RDL is known to cause acute abdomen, its typical MR findings can be observed even in asymptomatic patients in a condition that manifests long after red degeneration. The characteristic pathological findings in both the acute phase and the chronic phase that we found in this study, along with radiology reports, will be helpful references for gynecologists and pathologists in suspecting a history of red degeneration and confirming the diagnosis.

[Pathological neocortical findings in patients with medication-resistant medial temporal lobe epilepsy submitted to surgery].

PubMed

Estupiñán-Díaz, B; Morales-Chacón, L M; Lorigados-Pedre, L; García-Maeso, I; Bender-del Busto, J E; Trápaga-Quincoses, O; Hidalgo-Portal, L; García-Navarro, M E; Sánchez-Coroneaux, A; Orozco-Suárez, S

The dual pathology consisting of hippocampal sclerosis plus focal cortical dysplasia (FCD) is often reported in patients with medication-resistant medial temporal lobe epilepsy (MTLE). To determine the histopathological changes that take place in the neocortex of patients with medication-resistant MTLE submitted to surgery and to evaluate the relation between the histopathological changes, pathological background and the clinical course of patients who had received surgical treatment. Tissue obtained by en bloc resection from the neocortex of 18 patients with MTLE refractory to medical treatment was processed histologically and a tailored temporal lobectomy was performed with electrocorticography. Dual pathology was diagnosed in 13 patients (72.2%). Imaging studies confirmed the existence of mesial sclerosis of the temporal in 100% of cases and there was no evidence of neocortical lesions. Histologically, 46.15% and 38.46% of the patients were diagnosed as belonging to FCD type 1a and FCD type 1b, respectively. Only one patient presented FCD type 2a. A statistically significant relation was found between the presence of dual pathology and the existence of an early precipitating injury (p = 0.04). One year after surgery, 72.7% (8/11) patients with dual pathology were classified as belonging to Engel class I. In patients with MTLE there are microscopic FCD-type alterations in the neocortex. There is an association between these alterations and the existence of an initial precipitating injury. Complete resection of the epileptogenic area, which is guaranteed by the lobectomy tailored by electrocorticography, allows patients to enjoy a favourable post-surgical progression one year after surgery.

Prostate carcinoma mimicking a sphenoid wing meningioma

PubMed Central

Bradley, Lucas H.; Burton, Matthew; Gokden, Murat; Serletis, Demitre

2015-01-01

Introduction We report here on a rare case of a large, lateral sphenoid wing tumor with radiographic and intraoperative findings highly suggestive of meningioma, yet pathology was in fact consistent with metastatic prostate adenocarcinoma. Presentation of case An 81 year-old male presented with expressive dysphasia, right-sided weakness and headaches. Imaging revealed a heterogeneously-enhancing lesion based on the left lateral sphenoid wing. The presumed diagnosis was strongly in favor of meningioma, and the patient underwent complete resection of the dural-based lesion. Final pathology confirmed the unexpected finding of a metastatic prostate adenocarcinoma. Although he tolerated surgery well, the patient was subsequently referred for palliative therapy given findings of widespread systemic disease. Discussion Intracranial metastases may involve the dura, at times presenting with rare radiographic features highly suggestive for meningioma, as in our case here. This makes differentiation, at least based on imaging, a challenge. Elderly patients presenting with neurological deficits secondary to a newly-diagnosed, dural-based lesion should thus be considered for metastasis, prompting additional imaging studies (including body CT, MRI or PET) to rule out a primary lesion elsewhere. In some cases, this may affect the overall decision to proceed with surgical resection, or alternatively, to proceed directly to palliative therapy (the latter decision made in the context of widespread metastatic disease). Conclusion We conclude that dural-based metastatic lesions may mimic meningiomas, warranting thorough pre-operative work-up to exclude the possibility of metastasis. In certain cases, identification of widespread disease might preclude surgery and favor palliation, instead. PMID:26318129

Bacterial, fungal, parasitological and pathological analyses of abortions in small ruminants from 2012-2016.

PubMed

Schnydrig, P; Vidal, S; Brodard, I; Frey, C; Posthaus, H; Perreten, V; Rodriguez-Campos, S

2017-12-01

Abortion in small ruminants presents a clinical and economic problem with legal implications regarding animal health and zoonotic risk by some of the abortive pathogens. Several bacteria, fungi and parasites can cause abortion, but cost-orientated routine diagnostics only cover the most relevant epizootic agents. To cover a broad-range of common as well as underdiagnosed abortifacients, we studied 41 ovine and 36 caprine abortions by Stamp's modification of the Ziehl-Neelsen stain, culture for classical and opportunistic abortive agents, real-time PCR for C. burnetii, C. abortus, pathogenic Leptospira spp., Toxoplasma gondii and Neospora caninum. When the dam's serum was available detection of antibodies against B. melitensis, C. burnetii, C. abortus and Leptospira spp. was performed. In 37 cases sufficient placental tissue was available for pathological and histopathological examination. From the 77 cases 11 (14.3%) were positive by staining whereas real-time PCR detected C. burnetii and C. abortus in 49.3% and 32.5% of the cases. Antibodies against C. abortus and Leptospira spp. (33.3 and 26.7%) were detected. In 23.4% a bacterial culturable pathogen was isolated. Fungal abortion was confirmed in 1.3% of cases. A single abortive agent was identified in 44.2% of the cases and in 31.2% multiple possible abortifacients were present. Our study shows that the highest clarification rate can only be achieved by a combination of methods and evidences the role that multi-infections play as cause of abortion.

Morphological parameters of flat epithelial atypia (FEA) in stereotactic vacuum-assisted needle core biopsies do not predict the presence of malignancy on subsequent surgical excision.

PubMed

Bianchi, Simonetta; Bendinelli, Benedetta; Castellano, Isabella; Piubello, Quirino; Renne, Giuseppe; Cattani, Maria Grazia; Di Stefano, Domenica; Carrillo, Giovanna; Laurino, Licia; Bersiga, Alessandra; Giardina, Carmela; Dante, Stefania; Di Loreto, Carla; Quero, Carmela; Antonacci, Concetta Maria; Palli, Domenico

2012-10-01

Flat epithelial atypia (FEA) may represent the earliest precursor of low-grade breast cancer and often coexists with more advanced atypical proliferative breast lesions such as atypical ductal hyperplasia (ADH) and lobular intraepithelial neoplasia (LIN). The present study aims to investigate the association between morphological parameters of FEA and presence of malignancy at surgical excision (SE) and the clinical significance of the association of FEA with ADH and/or LIN. This study included 589 cases of stereotactic 11-gauge vacuum-assisted needle core biopsy (VANCB), reporting a diagnosis of FEA, ADH or LIN with subsequent SE from 14 pathology departments in Italy. Available slides were reviewed, with 114 (19.4 %) showing a malignant outcome at SE. Among the 190 cases of pure FEA, no statistically significant association emerged between clinical-pathological parameters of FEA and risk of malignancy. Logistic regression analyses showed an increased risk of malignancy according to the extension of ADH among the 275 cases of FEA associated with ADH (p = 0.004) and among the 34 cases of FEA associated with ADH and LIN (p = 0.02). In the whole series, a statistically significant increased malignancy risk emerged according to mammographic R1-R3/R4-R5 categories (OR = 1.56; p = 0.04), extension (OR = 1.24; p = 0.04) and grade (OR = 1.94; p = 0.004) of cytological atypia of FEA. The presence of ADH was associated with an increased malignancy risk (OR = 2.85; p < 0.0001). Our data confirm the frequent association of FEA with ADH and/or LIN. A diagnosis of pure FEA on VANCB carries a 9.5 % risk of concurrent malignancy and thus warrants follow-up excision because none of the clinical-pathological parameters predicts which cases will present carcinoma on SE.

Gliomatosis cerebri: clinicopathologic study of 33 cases and comparison of mass forming and diffuse types.

PubMed

Park, S; Suh, Y-L; Nam, D-H; Kim, S T

2009-01-01

Gliomatosis cerebri (GC) is defined as a diffuse neoplastic glial cell infiltration of the brain with the preservation of anatomical architecture and the sparing of neurons and can be classified into Type 1 (diffuse) and Type 2 (mass forming) GCs macroscopically. There is little information on subtypes of GC. The aim of this study was to evaluate the clinicopathologic findings of GCs and to compare the clinicopathologic findings between Type 1 and Type 2 GCs. A total of 33 cases of GC were obtained from pathology file of Samsung Medical Center. The diagnosis was based on magnetic resonance imaging findings and histological confirmation for all patients. Fifteen cases were classified into Type 1 and 18 were Type 2 based on the MR images. Clinical information included patients' age, sex, tumor extent, treatment modality and survival. Pathologic features included the amount of rod cells and cytologic anaplasia such as multinucleated tumor giant cells, endothelial cell proliferation, or mitosis. Immunohistochemical study was performed for GFAP, O1, Gal-C, Ki-67, and p53. Clinicopathologic comparison between subtypes and statistical analysis were performed. Median age at diagnosis was older (56 years) in Type 1 than in Type 2 (44 years). Male to female ratio was about 1.54:1. Mean survival time was shorter (21 months) in Type 2 than in Type 1 GCs (24 months) (p = 0.0447). Histologically, 33 cases of GC were classified into two histologic grades (low and high grade) by cytologic anaplasia. High-grade GC was more common in Type 2 than Type 1 (p = 0.027). Immunohistochemical results demonstrated that the infiltrating tumor cells were undifferentiated cells with astrocytic or oligodendroglial differentiation. Ki-67 labeling index was correlated with subtypes (p = 0.0096). Pathologic features were not correlated with survival. Type 1 and 2 GCs are somewhat different in clinical presentation and pathologic features. The age group, survival time, histologic grade, and Ki-67 labeling index were significantly correlated with subtypes ofGCs. Type 2 GC was correlated with poor survival but histologic grade was not.

Evaluation of ALK rearrangement in Chinese non-small cell lung cancer using FISH, immunohistochemistry, and real-time quantitative RT- PCR on paraffin-embedded tissues.

PubMed

Zhang, Yun-Gang; Jin, Mu-Lan; Li, Li; Zhao, Hong-Ying; Zeng, Xuan; Jiang, Lei; Wei, Ping; Diao, Xiao-Li; Li, Xue; Cao, Qing; Tian, Xin-Xia

2013-01-01

Patients with ALK gene rearrangements often manifest dramatic responses to crizotinib, an ALK inhibitor. Accurate identification of patients with ALK-positive non-small cell lung cancer (NSCLC) is essential for the clinical application of ALK-targeted therapy. However, assessing EML4-ALK rearrangement in NSCLC remains challenging in routine pathology practice. The aim of this study was to compare the diagnostic accuracy of FISH, immunohistochemistry (IHC), and real-time quantitative RT-PCR (QPCR) methodologies for detection of EML4-ALK rearrangement in NSCLC and to appraise immunohistochemistry as a pre-screening tool. In this study, a total of 473 paraffin-embedded NSCLC samples from surgical resections and biopsies were analyzed by IHC with ALK antibody. ALK rearrangement was further confirmed by FISH and QPCR. ALK protein expression was detected in twenty patients (20/473, 4.2%). Of the 20 ALK-positive cases by IHC, 15 cases were further confirmed as ALK rearrangement by FISH, and 5 cases were not interpretable. Also, we evaluated 13 out of the 20 IHC-positive tissues by QPCR in additional to FISH, and found that 9 cases were positive and 2 cases were equivocal, whereas 2 cases were negative although they were positive by both IHC and FISH. The ALK status was concordant in 5 out of 8 cases that were interpretable by three methods. Additionally, none of the 110 IHC-negative cases with adenocarcinoma histology showed ALK rearrangements by FISH. Histologically, almost all the ALK-rearranged cases were adenocarcinoma, except that one case was sarcomatoid carcinoma. A solid signet-ring cell pattern or mucinous cribriform pattern was presented at least focally in all ALK-positive tumors. In conclusion, our findings suggested that ALK rearrangement was associated with ALK protein expression. The conventional IHC assay is a valuable tool for the pre-screening of patients with ALK rearrangement in clinical practice and a combination of FISH and QPCR is required for further confirmation.

Lightning related fatalities in livestock: veterinary expertise and the added value of lightning location data.

PubMed

Vanneste, E; Weyens, P; Poelman, D R; Chiers, K; Deprez, P; Pardon, B

2015-01-01

Although lightning strike is an important cause of sudden death in livestock on pasture and among the main reasons why insurance companies consult an expert veterinarian, scientific information on this subject is limited. The aim of the present study was to provide objective information on the circumstantial evidence and pathological findings in lightning related fatalities (LRF), based on a retrospective analysis of 410 declarations, examined by a single expert veterinarian in Flanders, Belgium, from 1998 to 2012. Predictive logistic models for compatibility with LRF were constructed based on anamnestic, environmental and pathological factors. In addition, the added value of lightning location data (LLD) was evaluated. Pathognomonic singe lesions were present in 84/194 (43%) confirmed reports. Factors which remained significantly associated with LRF in the multivariable model were age, presence of a tree or open water in the near surroundings, tympany and presence of feed in the oral cavity at the time of investigation. This basic model had a sensitivity (Se) of 53.8% and a specificity (Sp) of 88.2%. Relying only on LLD to confirm LRF in livestock resulted in a high Se (91.3%), but a low Sp (41.2%), leading to a high probability that a negative case would be wrongly accepted as an LRF. The best results were obtained when combining the model based on the veterinary expert investigation (circumstantial evidence and pathological findings), together with the detection of cloud-to-ground (CG) lightning at the time and location of death (Se 89.1%; Sp 66.7%). Copyright © 2014 Elsevier Ltd. All rights reserved.

Clinicopathological analysis of biopsy-proven diabetic nephropathy based on the Japanese classification of diabetic nephropathy.

PubMed

Furuichi, Kengo; Shimizu, Miho; Yuzawa, Yukio; Hara, Akinori; Toyama, Tadashi; Kitamura, Hiroshi; Suzuki, Yoshiki; Sato, Hiroshi; Uesugi, Noriko; Ubara, Yoshifumi; Hohino, Junichi; Hisano, Satoshi; Ueda, Yoshihiko; Nishi, Shinichi; Yokoyama, Hitoshi; Nishino, Tomoya; Kohagura, Kentaro; Ogawa, Daisuke; Mise, Koki; Shibagaki, Yugo; Makino, Hirofumi; Matsuo, Seiichi; Wada, Takashi

2018-06-01

The Japanese classification of diabetic nephropathy reflects the risks of mortality, cardiovascular events and kidney prognosis and is clinically useful. Furthermore, pathological findings of diabetic nephropathy are useful for predicting prognoses. In this study, we evaluated the characteristics of pathological findings in relation to the Japanese classification of diabetic nephropathy and their ability to predict prognosis. The clinical data of 600 biopsy-confirmed diabetic nephropathy patients were collected retrospectively from 13 centers across Japan. Composite kidney events, kidney death, cardiovascular events, all-cause mortality, and decreasing rate of estimated GFR (eGFR) were evaluated based on the Japanese classification of diabetic nephropathy. The median observation period was 70.4 (IQR 20.9-101.0) months. Each stage had specific characteristic pathological findings. Diffuse lesions, interstitial fibrosis and/or tubular atrophy (IFTA), interstitial cell infiltration, arteriolar hyalinosis, and intimal thickening were detected in more than half the cases, even in Stage 1. An analysis of the impacts on outcomes in all data showed that hazard ratios of diffuse lesions, widening of the subendothelial space, exudative lesions, mesangiolysis, IFTA, and interstitial cell infiltration were 2.7, 2.8, 2.7, 2.6, 3.5, and 3.7, respectively. Median declining speed of eGFR in all cases was 5.61 mL/min/1.73 m 2 /year, and the median rate of declining kidney function within 2 years after kidney biopsy was 24.0%. This study indicated that pathological findings could categorize the high-risk group as well as the Japanese classification of diabetic nephropathy. Further study using biopsy specimens is required to clarify the pathogenesis of diabetic kidney disease.

Hippocampal α-Synuclein in Dementia with Lewy Bodies Contributes to Memory Impairment and Is Consistent with Spread of Pathology

PubMed Central

Roy, Subhojit; Galasko, Douglas R.; Hansen, Lawrence A.; Masliah, Eliezer

2017-01-01

Despite considerable research to uncover them, the anatomic and neuropathologic correlates of memory impairment in dementia with Lewy bodies (DLB) remain unclear. While some studies have implicated Lewy bodies in the neocortex, others have pointed to α-synuclein pathology in the hippocampus. We systematically examined hippocampal Lewy pathology and its distribution in hippocampal subfields in 95 clinically and neuropathologically characterized human cases of DLB, finding that α-synuclein pathology was highest in two hippocampal-related subregions: the CA2 subfield and the entorhinal cortex (EC). While the EC had numerous classic somatic Lewy bodies, CA2 contained mainly Lewy neurites in presumed axon terminals, suggesting the involvement of the EC → CA2 circuitry in the pathogenesis of DLB symptoms. Clinicopathological correlations with measures of verbal and visual memory supported a role for EC Lewy pathology, but not CA2, in causing these memory deficits. Lewy pathology in CA1—the main output region for CA2—correlated best with results from memory testing despite a milder pathology. This result indicates that CA1 may be more functionally relevant than CA2 in the context of memory impairment in DLB. These correlations remained significant after controlling for several factors, including concurrent Alzheimer's pathology (neuritic plaques and neurofibrillary tangles) and the interval between time of testing and time of death. Our data suggest that although hippocampal Lewy pathology in DLB is predominant in CA2 and EC, memory performance correlates most strongly with CA1 burden. SIGNIFICANCE STATEMENT This study provides a detailed neuropathologic analysis of hippocampal Lewy pathology in human patients with autopsy-confirmed dementia with Lewy bodies. The approach—informed by regional molecular markers, concurrent Alzheimer's pathology analysis, and relevant clinical data—helps tease out the relative contribution of Lewy pathology to memory dysfunction in the disease. Levels of Lewy pathology were found to be highest in the hippocampal CA2 subregion and entorhinal cortex, implicating a potentially overlooked circuit in disease pathogenesis. However, correlation with memory performance was strongest with CA1. This unexpected finding suggests that Lewy pathology must reach a critical burden across hippocampal circuitry to contribute to memory dysfunction beyond that related to other factors, notably coexisting Alzheimer's disease tau pathology. PMID:28039370

Magnetic resonance imaging-ultrasound fusion biopsy for prediction of final prostate pathology.

PubMed

Le, Jesse D; Stephenson, Samuel; Brugger, Michelle; Lu, David Y; Lieu, Patricia; Sonn, Geoffrey A; Natarajan, Shyam; Dorey, Frederick J; Huang, Jiaoti; Margolis, Daniel J A; Reiter, Robert E; Marks, Leonard S

2014-11-01

We explored the impact of magnetic resonance imaging-ultrasound fusion prostate biopsy on the prediction of final surgical pathology. A total of 54 consecutive men undergoing radical prostatectomy at UCLA after fusion biopsy were included in this prospective, institutional review board approved pilot study. Using magnetic resonance imaging-ultrasound fusion, tissue was obtained from a 12-point systematic grid (mapping biopsy) and from regions of interest detected by multiparametric magnetic resonance imaging (targeted biopsy). A single radiologist read all magnetic resonance imaging, and a single pathologist independently rereviewed all biopsy and whole mount pathology, blinded to prior interpretation and matched specimen. Gleason score concordance between biopsy and prostatectomy was the primary end point. Mean patient age was 62 years and median prostate specific antigen was 6.2 ng/ml. Final Gleason score at prostatectomy was 6 (13%), 7 (70%) and 8-9 (17%). A tertiary pattern was detected in 17 (31%) men. Of 45 high suspicion (image grade 4-5) magnetic resonance imaging targets 32 (71%) contained prostate cancer. The per core cancer detection rate was 20% by systematic mapping biopsy and 42% by targeted biopsy. The highest Gleason pattern at prostatectomy was detected by systematic mapping biopsy in 54%, targeted biopsy in 54% and a combination in 81% of cases. Overall 17% of cases were upgraded from fusion biopsy to final pathology and 1 (2%) was downgraded. The combination of targeted biopsy and systematic mapping biopsy was needed to obtain the best predictive accuracy. In this pilot study magnetic resonance imaging-ultrasound fusion biopsy allowed for the prediction of final prostate pathology with greater accuracy than that reported previously using conventional methods (81% vs 40% to 65%). If confirmed, these results will have important clinical implications. Copyright © 2014 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Pyloric gland adenoma of gallbladder—reports of two cases and a brief review of literature

PubMed Central

Yang, Guang; Qin, Haixia; Raza, Anwar; Saukel, George W.; Solomon, Naveenraj; Michelotti, Marcos

2016-01-01

Adenomas of the gallbladder are uncommon benign epithelial neoplasms. Rarely, they can give rise to gallbladder cancer, which is the most common malignancy of the biliary tract, carrying a poor prognosis and decreased survival. Here we report the case histories of two patients, 40-year-old and 53-year-old males who presented with >1 cm gallbladder polyps, which were detected and confirmed using various imaging studies. Cholecystectomy was performed on both patients and the subsequent pathologic exam revealed 1.2 and 1.6 cm polyps in the lumen. Histopathologically, both polyps showed features reminiscent of “pyloric” gland type of adenoma. The differences between the two cases in regard to histopathological and immunohistochemical characteristics will be discussed. We will also briefly review the latest nomenclature on such low-grade polypoid gallbladder entities. PMID:27034818

Granulomatous Mastitis in a Transgender Patient

PubMed Central

Sam, Kenny Q; Severs, Frederick J; Ebuoma, Lilian O; Chandandeep, Nagi S; Sedgwick, Emily L

2017-01-01

Granulomatous mastitis is a rare and benign inflammatory condition of the breast most commonly affecting women of child-bearing age as well as patients on oral contraceptives. This condition is important to identify due to its diagnostic mimicry of malicious entities such as breast carcinoma. Clinical and radiological findings are nonspecific and may overlap with breast carcinomas, thus pathologic confirmation is often necessary for definitive diagnosis. Although cases of granulomatous mastitis have been described in cisgender females, there have been no reported cases in the transgender patient, a growing patient population with few imaging guidelines. Transgender patients are at risk of developing this breast entity due to the use of long-term hormone treatments or presence of residual breast tissue. A trial of antibiotics or steroids may be administered. However, surgical treatment is often necessary in recurrent or refractory cases. PMID:28580069

Chronic granulomatous otitis externa as an initial presentation of cutaneous Crohn disease.

PubMed

Raynor, Eileen M

2014-08-01

In the limited number of Crohn disease cases involving the head and neck, there is a predilection for mucosal surfaces and rare reports of involvement in the postauricular region. To our knowledge, in all previously reported cases involving the head and neck, the patients had a known diagnosis of Crohn disease. This case describes a 10-year-old boy with a history of psoriasis and psoriasiform dermatitis who presented with bilateral chronic granulomatous otitis externa, obliteration of the external auditory canal, and fissuring, resulting in separation of the lobule from the preauricular skin. Pathologic examination results were consistent with granulomatous dermatitis concerning for cutaneous Crohn disease, and a subsequent gastroenterologic workup confirmed the diagnosis of Crohn disease. This is a report of chronic granulomatous otitis as the initial presentation of cutaneous Crohn disease in a child.

Multiple sclerosis in an adrenoleukodystrophy carrier

PubMed Central

Jenkins, Thomas; Sarasamma, Priya; Gillett, Godfrey; Coley, Stuart; Sharrack, Basil

2011-01-01

X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disorder, in which accumulation of very long chain fatty acids (VLCFAs) results in damage to the central nervous system. As the disease is X-linked, males are affected severely, but female carriers may also present with neurological symptoms. We report the case of a young adult female, who presented with episodic sensorimotor symptoms. Although she was a heterozygous female carrier of X-ALD, subsequent investigations confirmed a diagnosis of multiple sclerosis (MS). To the best of our knowledge, this is the first reported case of a female X-ALD carrier in which the clinical features were more consistent with co-existent MS than ALD-related pathology. The case serves as a reminder that alternative, more common diagnoses should also be considered in carriers of rare neurological syndromes. PMID:24765366

Renal trematode infection due to Paratanaisia bragai in zoo housed Columbiformes and a red bird-of-paradise (Paradisaea rubra).

PubMed

Unwin, Steve; Chantrey, Julian; Chatterton, James; Aldhoun, Jitka A; Littlewood, D Timothy J

2013-12-01

Trematode infections affect a diverse range of avian species and the organs that are parasitised are also very varied. The family Eucotylidae contains seven genera of renal flukes that parasitise various birds. In birds, mild to severe lesions have been reported for species of the genus Paratanaisia, which was originally described from columbiform and galliform specimens collected in South America and has been identified in a number of wild avian species. This paper investigates eight cases of renal trematode infection at Chester Zoo in the UK due to Paratanaisia bragai in five previously unreported species: red bird-of-paradise, Socorro dove, Mindanao bleeding heart dove, laughing dove and emerald dove. Pathological changes, which varied between species, are discussed. A known intermediate snail host Allopeas clavulinum was present in the enclosures but there was no direct evidence of trematode infection. The size of the snails, possible low prevalence and the difficulty of visualising sporocysts contributed to this. Thus the development and application of further molecular diagnostic markers that can be applied to snail tissues is warranted. Parasite identification was confirmed utilizing DNA amplification from formalin-fixed paraffin-embedded tissues using PCR and trematode specific primers. Sequencing full ssrDNA and D1-D3 lsrDNA confirmed the identity in all cases as P. bragai. However, the short 310 bp fragment used provides insufficient variation or sequence length for wider application. The epidemiology, pathology and consequences for the management of these endangered species are discussed. Preliminary work on developing an effective ante mortem diagnostic PCR test kit is also highlighted.

[False traumatic aneurysm of the ulnar artery in a teenager].

PubMed

Nour, M; Talha, H; El Idrissi, R; Lahraoui, Y; Ouazzani, L; Oubejja, H; Erraji, M; Zerhouni, H; Ettayebi, F

2014-12-01

Most aneurysms of hand arteries are traumatic. It is a generally rare unrecognized pathology. Complications are serious (embolism and thromboses of interdigital arteries). Two main causes can be recalled: acute trauma, with development of a false aneurysm; repeated microtrauma (hand hammer syndrome), with occurrence of an arterial dysplasic aneurysm. The diagnosis is based on the presence of a pulsatile mass, with finger dysesthesia, unilateral Raynaud's phenomenon. It is confirmed by duplex Doppler. Arteriography is necessary but can be replaced by an angio-MR. We report a case of false traumatic aneurysm of the ulnar artery in a teenager. This case illustrates this rare condition and opens discussion on therapeutic options. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

PET scan-positive cat scratch disease in a patient with T cell lymphoblastic lymphoma.

PubMed

Jeong, Woondong; Seiter, Karen; Strauchen, James; Rafael, Theodore; Lau, Har Chi; Breakstone, Beth; Ahmed, Tauseef; Liu, Delong

2005-05-01

In patients who have history of lymphoma, a positive positron emission tomography (PET) scan is frequently considered as good evidence for relapse and/or persistent disease. Thus, lymph node biopsy is not always done to confirm the diagnosis of relapse or refractory lymphoma before a patient is subjected to further chemotherapy. We report a case of patient with history of T cell lymphoblastic lymphoma who presented again with inguinal lymphadenopathy and positive study on positron emission tomography suggestive of lymphoma relapse. This was pathologically proven to be cat scratch disease. This case suggests that in the immunocompromised patients who had history of lymphoma, infectious etiology should be ruled out for PET scan-positive lymphadenopathy.

Multimodality Imaging Approach towards Primary Aortic Sarcomas Arising after Endovascular Abdominal Aortic Aneurysm Repair: Case Series Report.

PubMed

Kamran, Mudassar; Fowler, Kathryn J; Mellnick, Vincent M; Sicard, Gregorio A; Narra, Vamsi R

2016-06-01

Primary aortic neoplasms are rare. Aortic sarcoma arising after endovascular aneurysm repair (EVAR) is a scarce subset of primary aortic malignancies, reports of which are infrequent in the published literature. The diagnosis of aortic sarcoma is challenging due to its non-specific clinical presentation, and the prognosis is poor due to delayed diagnosis, rapid proliferation, and propensity for metastasis. Post-EVAR, aortic sarcomas may mimic other more common aortic processes on surveillance imaging. Radiologists are rarely knowledgeable about this rare entity for which multimodality imaging and awareness are invaluable in early diagnosis. A series of three pathologically confirmed cases are presented to display the multimodality imaging features and clinical presentations of aortic sarcoma arising after EVAR.

Radiographic, computed tomographic, gross pathological and histological findings with suspected apical infection in 32 equine maxillary cheek teeth (2012-2015).

PubMed

Liuti, T; Smith, S; Dixon, P M

2018-01-01

Equine maxillary cheek teeth apical infections are a significant disorder because of frequent spread of infection to the supporting bones. The accuracy of computed tomographic imaging (CT) of this disorder has not been fully assessed. To compare the radiographic and CT findings in horses diagnosed with maxillary cheek teeth apical infections with pathological findings in the extracted teeth to assess the accuracy of these imaging techniques. Observational clinical study. Thirty-two maxillary cheek teeth (in 29 horses) diagnosed with apical infections by clinical, radiographic and principally by CT examinations, were extracted orally. The extracted teeth were subjected to further CT, gross pathological and histological examinations. Four normal teeth extracted from a cadaver served as controls. Pulpar and apical changes highly indicative of maxillary cheek teeth apical infection were present in all 32 teeth on CT, but in just 17/32 teeth (53%) radiographically. Gross pulpar/apical abnormalities and histological pulpar/periapical changes were present in 31/32 (97%) extracted teeth. On CT, one tooth contained small gas pockets in the apical aspect of one pulp and adjacent periodontal space, however no pathological changes were found following its extraction. The study is descriptive and is confined to a small number of cases. This study showed a 97% agreement between CT diagnosis of maxillary cheek teeth apical infection and the presence of pathological changes in the extracted teeth, confirming the diagnostic accuracy of CT compared with radiography for this disorder. © 2017 EVJ Ltd.

Overlapping but distinct TDP-43 and tau pathologic patterns in aged hippocampi.

PubMed

Smith, Vanessa D; Bachstetter, Adam D; Ighodaro, Eseosa; Roberts, Kelly; Abner, Erin L; Fardo, David W; Nelson, Peter T

2018-03-01

Intracellular proteinaceous aggregates (inclusion bodies) are almost always detectable at autopsy in brains of elderly individuals. Inclusion bodies composed of TDP-43 and tau proteins often coexist in the same brain, and each of these pathologic biomarkers is associated independently with cognitive impairment. However, uncertainties remain about how the presence and neuroanatomical distribution of inclusion bodies correlate with underlying diseases including Alzheimer's disease (AD). To address this knowledge gap, we analyzed data from the University of Kentucky AD Center autopsy series (n = 247); none of the brains had frontotemporal lobar degeneration. A specific question for this study was whether neurofibrillary tangle (NFT) pathology outside of the Braak NFT staging scheme is characteristic of brains with TDP-43 pathology but lacking AD, that is those with cerebral age-related TDP-43 with sclerosis (CARTS). We also tested whether TDP-43 pathology is associated with comorbid AD pathology, and whether argyrophilic grains are relatively likely to be present in cases with, vs. without, TDP-43 pathology. Consistent with prior studies, hippocampal TDP-43 pathology was associated with advanced AD - Braak NFT stages V/VI. However, argyrophilic grain pathology was not more common in cases with TDP-43 pathology in this data set. In brains with CARTS (TDP-43[+]/AD[-] cases), there were more NFTs in dentate granule neurons than were seen in TDP-43[-]/AD[-] cases. These dentate granule cell NFTs could provide a proxy indicator of CARTS pathology in cases lacking substantial AD pathology. Immunofluorescent experiments in a subsample of cases found that, in both advanced AD and CARTS, approximately 1% of dentate granule neurons were PHF-1 immunopositive, whereas ∼25% of TDP-43 positive cells showed colocalized PHF-1 immunoreactivity. We conclude that NFTs in hippocampal dentate granule neurons are often present in CARTS, and TDP-43 pathology may be secondary to or occurring in parallel with tauopathy. © 2017 International Society of Neuropathology.

Onyx extravasation during embolization of a brain arteriovenous malformation.

PubMed

Ikeda, Hiroyuki; Imamura, Hirotoshi; Agawa, Yuji; Imai, Yukihiro; Tani, Shoichi; Adachi, Hidemitsu; Ishikawa, Tatsuya; Mineharu, Yohei; Sakai, Nobuyuki

2017-04-01

During Onyx embolization to treat brain arteriovenous malformation (AVM), carefully observing the penetration of Onyx to the nidus is important in order to avoid complications such as hemorrhage, ischemia, and difficulty with microcatheter removal. We encountered a case of Onyx extravasation during embolization of a cerebellar AVM confirmed by surgical resection and pathological analysis. The patient was a 44-year-old man with Spetzler-Martin grade I cerebellar AVM who underwent Onyx embolization prior to resection of the brain AVM. While injecting Onyx into the nidus using the "plug-and-push" technique, Onyx extravasation was observed. Onyx injection was paused and subsequently restarted, thereby allowing continuation of embolization. An oblate Onyx cast that was entirely covered in cerebellar tissue was removed during total resection of the AVM, performed the same day. The surgically removed oblate Onyx cast did not contain brain tissue or vessel wall, and immunohistochemical staining against glial fibrillary acidic protein (GFAP) showed Onyx penetration into GFAP-positive cerebellar tissue. Onyx extravasation was confirmed based on intraoperative findings during resection as well as pathological findings. The patient has been followed for four years postoperatively, and adverse events caused by Onyx extravasation have not been observed. Unexpected cast of Onyx, remote from the vascular architecture of the AVM, may represent an intra-parenchymal extravasation.

Onyx extravasation during embolization of a brain arteriovenous malformation

PubMed Central

Imamura, Hirotoshi; Agawa, Yuji; Imai, Yukihiro; Tani, Shoichi; Adachi, Hidemitsu; Ishikawa, Tatsuya; Mineharu, Yohei; Sakai, Nobuyuki

2016-01-01

During Onyx embolization to treat brain arteriovenous malformation (AVM), carefully observing the penetration of Onyx to the nidus is important in order to avoid complications such as hemorrhage, ischemia, and difficulty with microcatheter removal. We encountered a case of Onyx extravasation during embolization of a cerebellar AVM confirmed by surgical resection and pathological analysis. The patient was a 44-year-old man with Spetzler-Martin grade I cerebellar AVM who underwent Onyx embolization prior to resection of the brain AVM. While injecting Onyx into the nidus using the “plug-and-push” technique, Onyx extravasation was observed. Onyx injection was paused and subsequently restarted, thereby allowing continuation of embolization. An oblate Onyx cast that was entirely covered in cerebellar tissue was removed during total resection of the AVM, performed the same day. The surgically removed oblate Onyx cast did not contain brain tissue or vessel wall, and immunohistochemical staining against glial fibrillary acidic protein (GFAP) showed Onyx penetration into GFAP-positive cerebellar tissue. Onyx extravasation was confirmed based on intraoperative findings during resection as well as pathological findings. The patient has been followed for four years postoperatively, and adverse events caused by Onyx extravasation have not been observed. Unexpected cast of Onyx, remote from the vascular architecture of the AVM, may represent an intra-parenchymal extravasation. PMID:27903925

Pathology and diagnosis of avian bornavirus infection in wild Canada geese (Branta canadensis), trumpeter swans (Cygnus buccinator) and mute swans (Cygnus olor) in Canada: a retrospective study.

PubMed

Delnatte, Pauline; Ojkic, Davor; Delay, Josepha; Campbell, Doug; Crawshaw, Graham; Smith, Dale A

2013-04-01

Nine hundred and fifty-five pathology cases collected in Ontario between 1992 and 2011 from wild free-ranging Canada geese, trumpeter swans and mute swans were retrospectively evaluated for the pathology associated with avian bornavirus (ABV) infection. Cases were selected based on the presence of upper gastrointestinal impaction, central nervous system histopathology or clinical history suggestive of ABV infection. The proportion of birds meeting at least one of these criteria was significantly higher at the Toronto Zoo (30/132) than elsewhere in Ontario (21/823). Central, peripheral and autonomic nervous tissues were examined for the presence of lymphocytes and plasma cells on histopathology. The presence of virus was assessed by immunohistochemistry and reverse transcriptase-polymerase chain reaction (RT-PCR) on frozen brains and on formalin-fixed paraffin-embedded tissues. Among selected cases, 86.3% (44/51) were considered positive on histopathology, 56.8% (29/51) were positive by immunohistochemistry, and RT-PCR was positive on 88.2% (15/17) of the frozen brains and 78.4% (40/51) of the formalin-fixed paraffin-embedded samples. Histopathological lesions included gliosis and lymphoplasmacytic perivascular cuffing in brain (97.7%), spinal cord (50%), peripheral nerves (55.5%) and myenteric ganglia or nerves (62.8%), resembling lesions described in parrots affected with proventricular dilatation disease. Partial amino acid sequences of the nucleocapsid gene from seven geese were 100% identical amongst themselves and 98.1 to 100% identical to the waterfowl sequences recently described in the USA. Although ABV has been identified in apparently healthy geese, our study confirmed that ABV can also be associated with significant disease in wild waterfowl species.

Convergence of pathology in dementia with Lewy bodies and Alzheimer's disease: a role for the novel interaction of alpha-synuclein and presenilin 1 in disease.

PubMed

Winslow, Ashley R; Moussaud, Simon; Zhu, Liya; Post, Kathryn L; Post, Katherine L; Dickson, Dennis W; Berezovska, Oksana; McLean, Pamela J

2014-07-01

A growing number of PSEN1 mutations have been associated with dementia with Lewy bodies and familial Alzheimer's disease with concomitant α-synuclein pathology. The objective of this study was to determine if PSEN1 plays a direct role in the development of α-synuclein pathology in these diseases. Using mass spectrometry, immunoelectron microscopy and fluorescence lifetime image microscopy based on Forster resonance energy transfer (FLIM-FRET) we identified α-synuclein as a novel interactor of PSEN1 in wild-type mouse brain tissue. The interaction of α-synuclein with PSEN1 was detected in post-mortem brain tissue from cognitively normal cases and was significantly increased in tissue from cases with dementia with Lewy bodies and familial Alzheimer's disease associated with known PSEN1 mutations. We confirmed an increased interaction of PSEN1 and α-synuclein in cell lines expressing well characterized familial Alzheimer's disease PSEN1 mutations, L166P and delta exon 9, and demonstrated that PSEN1 mutations associate with increased membrane association and accumulation of α-synuclein. Our data provides evidence of a molecular interaction of PSEN1 and α-synuclein that may explain the clinical and pathophysiological overlap seen in synucleinopathies, including Parkinson's disease, dementia with Lewy bodies, and some forms of Alzheimer's disease. © The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Audit of practice in sudden unexpected death in epilepsy (SUDEP) post mortems and neuropathological findings.

PubMed

Thom, Maria; Michalak, Zuzanna; Wright, Gabriella; Dawson, Timothy; Hilton, David; Joshi, Abhijit; Diehl, Beate; Koepp, Matthias; Lhatoo, Samden; Sander, Josemir W; Sisodiya, Sanjay M

2016-08-01

Sudden unexpected death in epilepsy (SUDEP) is one of the leading causes of death in people with epilepsy. For classification of definite SUDEP, a post mortem (PM), including anatomical and toxicological examination, is mandatory to exclude other causes of death. We audited PM practice as well as the value of brain examination in SUDEP. We reviewed 145 PM reports in SUDEP cases from four UK neuropathology centres. Data were extracted for clinical epilepsy details, circumstances of death and neuropathological findings. Macroscopic brain abnormalities were identified in 52% of cases. Mild brain swelling was present in 28%, and microscopic pathologies relevant to cause or effect of seizures were seen in 89%. Examination based on whole fixed brains (76.6% of all PMs), and systematic regional sampling was associated with higher detection rates of underlying pathology (P < 0.01). Information was more frequently recorded regarding circumstances of death and body position/location than clinical epilepsy history and investigations. Our findings support the contribution of examination of the whole fixed brain in SUDEP, with high rates of detection of relevant pathology. Availability of full clinical epilepsy-related information at the time of PM could potentially further improve detection through targeted tissue sampling. Apart from confirmation of SUDEP, complete neuropathological examination contributes to evaluation of risk factors as well as helping to direct future research into underlying causes. © 2015 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society.

Morphology of the Lesser Tuberosity and Intertubercular Groove in Patients With Arthroscopically Confirmed Subscapularis and Biceps Tendon Pathology.

PubMed

Shah, Shaan H; Small, Kirstin M; Sinz, Nathan J; Higgins, Laurence D

2016-06-01

To evaluate for an association between the morphology of the lesser tuberosity and intertubercular groove and subscapularis tendon tears and biceps tendon pathology. Sixty-six patients with arthroscopically confirmed subscapularis tendon tears were compared with 59 demographically matched control patients who underwent magnetic resonance imaging or computed tomography arthrography examination of the shoulder. Measurements of the lesser tuberosity and intertubercular groove included maximum depth of the intertubercular groove, intertubercular groove depth at the midpoint of the glenoid, lesser tuberosity length, length from the top of the humeral head to the point of maximum depth of the intertubercular groove, length from the top of the humeral head to the top of the lesser tuberosity, and medial wall angle and depth. Patients with subscapularis tears showed a significantly decreased depth of the intertubercular groove at the mid glenoid (P = .01), shorter length of the lesser tuberosity (P = .002), and greater distance from the top of the humeral head to the top of the lesser tuberosity (P = .02). There was a trend toward a decreased medial wall angle (P = .07) and greater distance from the top of the humeral head to the point of maximum intertubercular groove depth (P = .06). Patients with biceps tendon pathology showed a significantly decreased depth of the intertubercular groove at the mid glenoid (P = .001), shorter length of the lesser tuberosity (P = .0003), greater distance from the top of the humeral head to the top of the lesser tuberosity (P = .01), and decreased medial wall angle (P = .01) and depth (P = .03). There are several morphologic factors related to the lesser tuberosity and intertubercular groove that are associated with both subscapularis tendon tears and biceps tendon pathology. Level III, case-control study. Copyright © 2016 Arthroscopy Association of North America. Published by Elsevier Inc. All rights reserved.

Imaging Characteristics of Pathologically Proven Thymic Hyperplasia: Identifying Features That Can Differentiate True From Lymphoid Hyperplasia

PubMed Central

Araki, Tetsuro; Sholl, Lynette M.; Gerbaudo, Victor H.; Hatabu, Hiroto; Nishino, Mizuki

2014-01-01

OBJECTIVE The purpose of this article is to investigate the imaging characteristics of pathologically proven thymic hyperplasia and to identify features that can differentiate true hyperplasia from lymphoid hyperplasia. MATERIALS AND METHODS Thirty-one patients (nine men and 22 women; age range, 20–68 years) with pathologically confirmed thymic hyperplasia (18 true and 13 lymphoid) who underwent preoperative CT (n = 27), PET/CT (n = 5), or MRI (n = 6) were studied. The length and thickness of each thymic lobe and the transverse and anterior-posterior diameters and attenuation of the thymus were measured on CT. Thymic morphologic features and heterogeneity on CT and chemical shift on MRI were evaluated. Maximum standardized uptake values were measured on PET. Imaging features between true and lymphoid hyperplasia were compared. RESULTS No significant differences were observed between true and lymphoid hyperplasia in terms of thymic length, thickness, diameters, morphologic features, and other qualitative features (p > 0.16). The length, thickness, and diameters of thymic hyperplasia were significantly larger than the mean values of normal glands in the corresponding age group (p < 0.001). CT attenuation of lymphoid hyperplasia was significantly higher than that of true hyperplasia among 15 patients with contrast-enhanced CT (median, 47.9 vs 31.4 HU; Wilcoxon p = 0.03). The receiver operating characteristic analysis yielded greater than 41.2 HU as the optimal threshold for differentiating lymphoid hyperplasia from true hyperplasia, with 83% sensitivity and 89% specificity. A decrease of signal intensity on opposed-phase images was present in all four cases with in- and opposed-phase imaging. The mean maximum standardized uptake value was 2.66. CONCLUSION CT attenuation of the thymus was significantly higher in lymphoid hyperplasia than in true hyperplasia, with an optimal threshold of greater than 41.2 HU in this cohort of patients with pathologically confirmed thymic hyperplasia. PMID:24555583

Airborne Mycobacterium avium infection in a group of red-shanked douc langurs (Pygathrix nemaeus nemaeus).

PubMed

Plesker, Roland; Teschner, Katja; Behlert, Olaf; Prenger-Berninghoff, Ellen; Hillemann, Doris

2010-04-01

This report describes an airborne Mycobacterium avium (MA)-infection in two red-shanked douc langurs (Pygathrix nemaeus nemaeus) from Cologne zoo. The two individuals and their tissues were investigated clinically (including x-rays), in pathology, in pathohistology, in classical bacteriology and by polymerase chain reaction (PCR). Clinically, one individual displayed emaciation and a positive reaction in an intrapalpebral testing for M. bovis/MA. The other individual was without any symptoms and did not show any reaction in the intrapalpebral test. In x-ray photos of the lungs, calcified nodules were detected. In pathology, calcified and necrotic nodules were observed within the lungs and the bronchial lymph nodes. In pathohistology, both classical tuberculous granulomas, and few acid fast rods were seen in Ziehl-Neelsen-stain. However, classical bacteriology could not demonstrate mycobacteria. In PCR, MA-infection could be confirmed in one individual using the bronchial lymph nodes. It was an airborne infection; however, the definite source of infection in these cases remained unclear. Animals in contact to the langurs (house sparrows and mice) as well as water used in the building are the most promising candidates. The risk for a zoonotic transmission in these cases has been calculated to be low.

Auditory adaptation testing as a tool for investigating tinnitus origin: two patients with vestibular schwannoma.

PubMed

Silverman, Carol A; Silman, Shlomo; Emmer, Michele B

2017-06-01

To enhance the understanding of tinnitus origin by disseminating two case studies of vestibular schwannoma (VS) involving behavioural auditory adaptation testing (AAT). Retrospective case study. Two adults who presented with unilateral, non-pulsatile subjective tinnitus and bilateral normal-hearing sensitivity. At the initial evaluation, the otolaryngologic and audiologic findings were unremarkable, bilaterally. Upon retest, years later, VS was identified. At retest, the tinnitus disappeared in one patient and was slightly attenuated in the other patient. In the former, the results of AAT were positive for left retrocochlear pathology; in the latter, the results were negative for the left ear although a moderate degree of auditory adaptation was present despite bilateral normal-hearing sensitivity. Imaging revealed a small VS in both patients, confirmed surgically. Behavioural AAT in patients with tinnitus furnishes a useful tool for exploring tinnitus origin. Decrease or disappearance of tinnitus in patients with auditory adaptation suggests that the tinnitus generator is the cochlea or the cochlear nerve adjacent to the cochlea. Patients with unilateral tinnitus and bilateral, symmetric, normal-hearing thresholds, absent other audiovestibular symptoms, should be routinely monitored through otolaryngologic and audiologic re-evaluations. Tinnitus decrease or disappearance may constitute a red flag for retrocochlear pathology.

Perioperative BRAF inhibitors in locally advanced stage III melanoma.

PubMed

Zippel, Douglas; Markel, Gal; Shapira-Frommer, Roni; Ben-Betzalel, Guy; Goitein, David; Ben-Ami, Eytan; Nissan, Aviram; Schachter, Jacob; Schneebaum, Schlomo

2017-12-01

Stage III malignant melanoma is a heterogeneous disease where those cases deemed marginally resectable or irresecatble are frequently incurable by surgery alone. Targeted therapy takes advantage of the high incidence of BRAF mutations in melanomas, most notably the V600E mutation. These agents have rarely been used in a neoadjuvant setting prior to surgery. Thirteen consecutive patients with confirmed BRAF V600E regionally advanced melanoma deemed marginally resectable or irrresectable, were treated with BRAF inhibiting agents, prior to undergoing surgery. The primary outcome measures were a successful resection and pathological response. Disease-free survival was a secondary outcome measure. Overall, 12/13 patients showed a marked clinical responsiveness to medical treatment, enabling a macroscopically successful resection in all cases. Four patients had a complete pathological response with no viable tumor evident in the resected specimens and eight patients showed evidence of minimally residual tumor with extensive tumoral necrosis and fibrosis. One patient progressed and died before surgery. At a median follow up of 20 months, 10 patients remain free of disease. Perioperative treatment with BRAF inhibiting agents in BRAFV600E mutated Stage III melanoma patients facilitates surgical resection and affords satisfactory disease free survival. © 2017 Wiley Periodicals, Inc.

3B11-N, a monoclonal antibody against MERS-CoV, reduces lung pathology in rhesus monkeys following intratracheal inoculation of MERS-CoV Jordan-n3/2012.

PubMed

Johnson, Reed F; Bagci, Ulas; Keith, Lauren; Tang, Xianchun; Mollura, Daniel J; Zeitlin, Larry; Qin, Jing; Huzella, Louis; Bartos, Christopher J; Bohorova, Natasha; Bohorov, Ognian; Goodman, Charles; Kim, Do H; Paulty, Michael H; Velasco, Jesus; Whaley, Kevin J; Johnson, Joshua C; Pettitt, James; Ork, Britini L; Solomon, Jeffrey; Oberlander, Nicholas; Zhu, Quan; Sun, Jiusong; Holbrook, Michael R; Olinger, Gene G; Baric, Ralph S; Hensley, Lisa E; Jahrling, Peter B; Marasco, Wayne A

2016-03-01

Middle East Respiratory Syndrome Coronavirus (MERS-CoV) was identified in 2012 as the causative agent of a severe, lethal respiratory disease occurring across several countries in the Middle East. To date there have been over 1600 laboratory confirmed cases of MERS-CoV in 26 countries with a case fatality rate of 36%. Given the endemic region, it is possible that MERS-CoV could spread during the annual Hajj pilgrimage, necessitating countermeasure development. In this report, we describe the clinical and radiographic changes of rhesus monkeys following infection with 5×10(6) PFU MERS-CoV Jordan-n3/2012. Two groups of NHPs were treated with either a human anti-MERS monoclonal antibody 3B11-N or E410-N, an anti-HIV antibody. MERS-CoV Jordan-n3/2012 infection resulted in quantifiable changes by computed tomography, but limited other clinical signs of disease. 3B11-N treated subjects developed significantly reduced lung pathology when compared to infected, untreated subjects, indicating that this antibody may be a suitable MERS-CoV treatment. Published by Elsevier Inc.

Age-standardized incidence rates of primordial cyst (keratocyst) on the Witwatersrand.

PubMed

Rachanis, C C; Shear, M

1978-11-01

Cases of primordial cysts derived from the records of all the hospital pathology departments and private pathology practices on the Witwatersrand, were recorded for the 10-year period 1965-74. The population at risk (1970 census) was 974,390 Whites and 1,567,280 Blacks. Age-specific morbidity rates for each sex and race were calculated, as well as age-standardized incidence rates standardized against African, World and European standard populations. The age-standardized incidence rates for primordial cysts, standardized against a World standard population, per million per year are 0.61, 0, 4.86 and 3.50 for Black males and females and White males and females, respectively. In the population at risk, primordial cysts are much more common in Whites than in Blacks, the incidence being eight times higher in White males than in Black males. The present study confirms that there is a bimodal age distribution but with a higher incidence of the cyst in the age group 50-64 years than previously suspected. This may be either because a substantial number of cases remain undiagnosed for many years or because there are two groups of primordial cyst: one which is triggered in young patients and the other in older patients.

Suicidal insulin poisoning with nine day survival: recovery in bile at autopsy by radioimmunoassay

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sturner, W.Q.; Putnam, R.S.

1972-10-01

The discovery of insulin fifty years ago enabled doctors to successfully treat an eleven year old boy dying from diabetes mellitus and thereby ushered in a new medical era. While millions of subsequent patients were thus able to lead productive lives, others turned this miraculous substance into self-destructive purposes, while a few attempted (and possibly succeeded in) carefully concealed homicidal undertakings. The first ''murder by insulin'' case, prosecuted with a conviction in Great Britain fifteen years ago, employed a laborious bioassay method to demonstrate the hormone at the site of injection. A recent series of insulin poisonings in California wasmore » dependent on pathological changes in the brain from anoxia (hypoglycemia) coupled with history and investigation rather than chemical measurements, although an immunoassay method was used for confirmation in the final case. Instances of suicidal attempts by self- administered insulin have been reported with analyses performed by radioimmunoassay, now employed in clinical laboratories to measure many hormonal and therapeutic substances. We have applied this principle from pathologic and toxicologic aspects in an effort to enhance the diagnostic capability of the forensic pathologist, who must examine and properly certify such deaths. (auth)« less

“End-Stage” Neurofibrillary Tangle Pathology in Preclinical Alzheimer's Disease: Fact or Fiction?

PubMed Central

Abner, Erin L.; Kryscio, Richard J.; Schmitt, Frederick A.; SantaCruz, Karen S.; Jicha, Gregory A.; Lin, Yushun; Neltner, Janna M.; Smith, Charles D.; Van Eldik, Linda J.; Nelson, Peter T.

2011-01-01

Among individuals who were cognitively intact before death, autopsies may reveal some Alzheimer's disease-type pathology. The presence of end-stage pathology in cognitively intact persons would support the hypothesis that pathological markers are epiphenomena. We assessed advanced neurofibrillary (Braak stages V and VI) pathology focusing on nondemented individuals. Data from the National Alzheimer's Coordinating Center database (n = 4,690 included initially) and from the Nun Study (n = 526 included initially) were analyzed, with antemortem information about global cognition and careful postmortem studies available from each case. Global cognition (final Mini-Mental State Examination scores [MMSE] and clinical ‘dementia’ status) was correlated with neuropathology, including the severity of neurofibrillary pathology (Braak stages and neurofibrillary tangle counts in cerebral neocortex). Analyses support three major findings: 1. Braak stage V cases and Braak VI cases are significantly different from each other in terms of associated antemortem cognition; 2. There is an appreciable range of pathology within the category of Braak stage VI based on tangle counts such that brains with the most neurofibrillary tangles in neocortex always had profound antemortem cognitive impairment; and 3. There was no nondemented case with final MMSE score of 30 within a year of life and Braak stage VI pathology. It may be inappropriate to combine Braak stages V and VI cases, particularly in patients with early cognitive dysfunction, since the two pathological stages appear to differ dramatically in terms of both pathological severity and antemortem cognitive status. There is no documented example of truly end-stage neurofibrillary pathology coexisting with intact cognition. PMID:21471646

A rare complication of CMV infection in Crohn's disease - hemophagocytic syndrome: a case report.

PubMed

Pop, Corina Silvia; Becheanu, Gabriel; Calagiu, Dorina; Jantea, Petruţa-Violeta; Rădulescu, Dragoş Mihai; Pariza, George; Mavrodin, Carmen-Iuliana; Bold, Adriana; Costache, Adrian; Nemeş, Roxana Maria

2015-01-01

We report a case of CMV (cytomegalovirus) infection in a Crohn's disease patient, resulting in severe hemophagocytic syndrome and death. A 63-year-old man with a 10-year history of ileal and colonic Crohn's disease presented with general malaise, loss of appetite and weight loss over the last month. He was in clinical remission for two years, with maintenance therapy 5-Aminosalicylic acid (5-ASA)-derived Mesalamine. The patient had no prior immunomodulators or suppressive treatment. A colonoscopy was performed and we found appearance suggestive of active Crohn's disease, confirmed by histopathological examination. A diagnosis of an exacerbation of Crohn's disease was established. Although the specific treatment was initiated, patient's general condition degraded progressively and diarrheal stools appeared, followed by an episode of massive gastrointestinal bleeding - hematochezia. We performed a new colonoscopy and the pathological examination revealed Crohn's ileocolitis with superimposed CMV infection. Despite the initiation of Ganciclovir alongside with other intensive care measures, he increasingly deteriorated and chest X-ray confirmed multilobar pneumonia. The occurrence of rapidly progressing pancytopenia and evidence for disseminated intravascular coagulopathy as well as hyperferritinemia, raised the suspicion of hemophagocytic syndrome confirmed by bone marrow aspiration. Hence, CMV-associated hemophagocytic syndrome in the context of recent corticotherapy for Crohn's disease was established. There is enough evidence that supports the gravity of the CMV infection in the case of inflammatory bowel disease (IBD) patients, especially the ones on immunomodulator treatment. The hemophagocytic syndrome reactively occurs in patients with infections in cases of immunodeficiency, displaying a hematological aspect of multiple organ dysfunction syndrome.

Dual pathology in Rasmussen's encephalitis: a study of seven cases and review of the literature.

PubMed

Takei, Hidehiro; Wilfong, Angus; Malphrus, Amy; Yoshor, Daniel; Hunter, Jill V; Armstrong, Dawna L; Bhattacharjee, Meenakshi B

2010-08-01

Dual pathology has previously been reported in less than 10% of cases of Rasmussen's encephalitis (RE). Given the rarity of RE, it appears unlikely that dual pathology in RE is merely a coincidence. We therefore reviewed all cases of RE experienced in our institution to assess for an additional/associated pathology. A total of seven patients with RE were identified in our archives. Seven children (4 boys and 3 girls, age range: 3-16 years, mean: 9.5 years) with medically refractory epilepsy underwent surgical resection for intractable seizures. The surgical specimens were examined with routine neurohistological techniques, and immunohistochemistry was performed with an extensive panel of antibodies for viruses, lymphocytes, microglia/macrophages, human leukocyte antigen (HLA)-DR, astrocytes, and neurons. Relevant literature was reviewed. Microscopically, all seven cases demonstrated the inflammatory pathology of RE in the cortex and white matter with leptomeningeal and perivascular lymphocytic infiltration, microglial nodules with/without neuronophagia, neuronal loss and gliosis. The HLA-DR antibody was extremely helpful in highlighting the extent of microglial cell proliferation/activation that was not appreciable with standard histology. An unexpected finding in all seven cases was the presence of cortical dysplasia. In our series of seven cases, there was co-occurrence of the inflammatory/destructive pathology of RE with malformative/dysplastic features in cortical architecture in 100% of cases, raising questions about the possible relationships between the two entities. Awareness of the possibility of dual pathology in RE is important for clinical and pathological diagnosis, and may affect the management and outcome of these patients. Immunohistochemistry is very helpful to make a definitive diagnosis of both pathologies.

Pathology Competencies for Medical Education and Educational Cases.

PubMed

Knollmann-Ritschel, Barbara E C; Regula, Donald P; Borowitz, Michael J; Conran, Richard; Prystowsky, Michael B

2017-01-01

Current medical school curricula predominantly facilitate early integration of basic science principles into clinical practice to strengthen diagnostic skills and the ability to make treatment decisions. In addition, they promote life-long learning and understanding of the principles of medical practice. The Pathology Competencies for Medical Education (PCME) were developed in response to a call to action by pathology course directors nationwide to teach medical students pathology principles necessary for the practice of medicine. The PCME are divided into three competencies: 1) Disease Mechanisms and Processes, 2) Organ System Pathology, and 3) Diagnostic Medicine and Therapeutic Pathology. Each of these competencies is broad and contains multiple learning goals with more specific learning objectives. The original competencies were designed to be a living document, meaning that they will be revised and updated periodically, and have undergone their first revision with this publication. The development of teaching cases, which have a classic case-based design, for the learning objectives is the next step in providing educational content that is peer-reviewed and readily accessible for pathology course directors, medical educators, and medical students. Application of the PCME and cases promotes a minimum standard of exposure of the undifferentiated medical student to pathophysiologic principles. The publication of the PCME and the educational cases will create a current educational resource and repository published through Academic Pathology .

Soluble CD26 levels and its association to epidemiologic parameters in a sample population.

PubMed

De Chiara, Loretta; Rodríguez-Piñeiro, Ana M; Cordero, Oscar J; Rodríguez-Berrocal, Francisco J; Ayude, Daniel; Rivas-Hervada And, Francisco J; de la Cadena, María Páez

2009-01-01

Previous studies have suggested the use of soluble CD26 (sCD26) as a tumour marker for the detection of colorectal cancer (CRC) and advanced adenomas. The aim of this study was to assess the sCD26 concentration in a large cohort to evaluate its association to epidemiologic parameters and CRC-related symptoms/pathologies. Serum samples were collected from 2,754 putatively healthy individuals with ages ranging from 30-65 years, and with personal or familial history of polyps, CRC and/or CR symptoms. sCD26 levels were measured by ELISA. No association was found between the sCD26 concentration and age (< 50 and 50), the personal or familial history of polyps or CRC, rectal bleeding, haemorrhoids or diverticula. However, sCD26 was related to non-inflammatory benign pathologies (excluding rectal bleeding, changes in bowel habits, haemorrhoids, diverticula) and to inflammatory benign pathologies. Our results confirm that the sCD26 can be easily offered and evaluated in a large cohort. Additionally, the validation of sCD26 as a tumour marker for screening and case-finding purposes requires a further comparison with an established non-invasive test like the faecal occult blood.

Ultrasonography of uterine leiomyomas.

PubMed

Woźniak, Andrzej; Woźniak, Sławomir

2017-12-01

Uterine leiomyomas or uterine fibroids are the most common gynaecological tumours and occur in about 20-50% of women around the world. Ultrasonography (USG) is the first-line imaging examination in suspected fibroids and shows high sensitivity and specificity in diagnosing this condition. Ultrasound scans can be performed transvaginally (transvaginal scan - TVS) or transabdominally (transabdominal scan - TAS); both scans have advantages and limitations, but, in general, transvaginal sonography is superior to transabdominal sonography in most cases of pelvic pathology. Whether a leiomyoma is symptomatic or not depends primarily on its size and location. During ultrasound examination, leiomyomas usually appear as well-defined, solid, concentric, hypoechoic masses that cause a variable amount of acoustic shadowing. During the examination of leiomyomas differential diagnosis is important. Some of the most common misdiagnosed pathologies are adenomyosis, solid tumours of adnexa, and endometrial polyps. Misdiagnosis of a leiomyosarcoma has the most negative consequences, presenting symptoms are very similar to benign leiomyoma, and there is no pelvic imaging technique that can reliably differentiate between those pathologies. Magnetic resonance and computer tomography might be helpful in the diagnostics of uterine leiomyoma; however, ultrasound examination is the basic imaging test confirming the existence of leiomyomas, allowing the differentiation of myomas with adenomyosis, endometrial polyps, ovarian tumours, and pregnant uterus.

Insulin deprivation induces PP2A inhibition and tau hyperphosphorylation in hTau mice, a model of Alzheimer’s disease-like tau pathology

PubMed Central

Gratuze, Maud; Julien, Jacinthe; Petry, Franck R.; Morin, Françoise; Planel, Emmanuel

2017-01-01

Abnormally hyperphosphorylated tau aggregated as intraneuronal neurofibrillary tangles is one of the two neuropathological hallmarks of Alzheimer’s disease (AD). The majority of AD cases are sporadic with numerous environmental, biological and genetic risks factors. Interestingly, insulin dysfunction and hyperglycaemia are both risk factors for sporadic AD. However, how hyperglycaemia and insulin dysfunction affect tau pathology, is not well understood. In this study, we examined the effects of insulin deficiency on tau pathology in transgenic hTau mice by injecting different doses of streptozotocin (STZ), a toxin that destroys insulin-producing cells in the pancreas. One high dose of STZ resulted in marked diabetes, and five low doses led to a milder diabetes. Both groups exhibited brain tau hyperphosphorylation but no increased aggregation. Tau hyperphosphorylation correlated with inhibition of Protein Phosphatase 2A (PP2A), the main tau phosphatase. Interestingly, insulin injection 30 minutes before sacrifice partially restored tau phosphorylation to control levels in both STZ-injected groups. Our results confirm a link between insulin homeostasis and tau phosphorylation, which could explain, at least in part, a higher incidence of AD in diabetic patients. PMID:28402338

Insulin deprivation induces PP2A inhibition and tau hyperphosphorylation in hTau mice, a model of Alzheimer's disease-like tau pathology.

PubMed

Gratuze, Maud; Julien, Jacinthe; Petry, Franck R; Morin, Françoise; Planel, Emmanuel

2017-04-12

Abnormally hyperphosphorylated tau aggregated as intraneuronal neurofibrillary tangles is one of the two neuropathological hallmarks of Alzheimer's disease (AD). The majority of AD cases are sporadic with numerous environmental, biological and genetic risks factors. Interestingly, insulin dysfunction and hyperglycaemia are both risk factors for sporadic AD. However, how hyperglycaemia and insulin dysfunction affect tau pathology, is not well understood. In this study, we examined the effects of insulin deficiency on tau pathology in transgenic hTau mice by injecting different doses of streptozotocin (STZ), a toxin that destroys insulin-producing cells in the pancreas. One high dose of STZ resulted in marked diabetes, and five low doses led to a milder diabetes. Both groups exhibited brain tau hyperphosphorylation but no increased aggregation. Tau hyperphosphorylation correlated with inhibition of Protein Phosphatase 2A (PP2A), the main tau phosphatase. Interestingly, insulin injection 30 minutes before sacrifice partially restored tau phosphorylation to control levels in both STZ-injected groups. Our results confirm a link between insulin homeostasis and tau phosphorylation, which could explain, at least in part, a higher incidence of AD in diabetic patients.

Brucella ceti infection in dolphins from the Western Mediterranean sea.

PubMed

Isidoro-Ayza, Marcos; Ruiz-Villalobos, Nazareth; Pérez, Lola; Guzmán-Verri, Caterina; Muñoz, Pilar M; Alegre, Fernando; Barberán, Montserrat; Chacón-Díaz, Carlos; Chaves-Olarte, Esteban; González-Barrientos, Rocio; Moreno, Edgardo; Blasco, José María; Domingo, Mariano

2014-09-17

Brucella ceti infections have been increasingly reported in cetaceans. Brucellosis in these animals is associated with meningoencephalitis, abortion, discospondylitis', subcutaneous abscesses, endometritis and other pathological conditions B. ceti infections have been frequently described in dolphins from both, the Atlantic and Pacific Oceans. In the Mediterranean Sea, only two reports have been made: one from the Italian Tyrrhenian Sea and the other from the Adriatic Sea. We describe the clinical and pathological features of three cases of B. ceti infections in three dolphins stranded in the Mediterranean Catalonian coast. One striped dolphin had neurobrucellosis, showing lethargy, incoordination and lateral swimming due to meningoencephalitis, A B. ceti infected bottlenose dolphin had discospondylitis, and another striped dolphin did not show clinical signs or lesions related to Brucella infection. A detailed characterization of the three B. ceti isolates was performed by bacteriological, molecular, protein and fatty acid analyses. All the B. ceti strains originating from Mediterranean dolphins cluster together in a distinct phylogenetic clade, close to that formed by B. ceti isolates from dolphins inhabiting the Atlantic Ocean. Our study confirms the severity of pathological signs in stranded dolphins and the relevance of B. ceti as a pathogen in the Mediterranean Sea.

Dedifferentiated Chondrosarcoma of the Larynx.

PubMed

Fidai, Shiraz S; Ginat, Daniel T; Langerman, Alexander J; Cipriani, Nicole A

2016-09-01

Primary dedifferentiated chondrosarcoma occurring in the larynx is a rare head and neck malignancy. The cases reported in the literature suggest male gender predilection and variable clinical outcomes ranging from disease-free survival to disease-related death. Although a calcified matrix is suggestive of chondrosarcoma, the dedifferentiated component is not readily appreciated on conventional imaging modalities and thorough tissue sampling is necessary for confirming the diagnosis. Histologically, there is an abrupt transition from a well-differentiated chondrosarcoma to a high-grade spindle cell component, which can show focal heterologous differentiation. These features are exemplified in this sine qua non radiology-pathology correlation article.

Primary Neuroendocrine Breast Carcinoma in a 13-Year-Old Girl: Ultrasonography and Pathology Findings

PubMed Central

Folligan, Koué; Sabi, Akomola; Sonhaye, Lantam; Boumé, Azanledji; Bassowa, Akila; Adani-Ifé, Solange; Napo-Koura, Gado

2017-01-01

Neuroendocrine carcinoma (NEC) of the breast is a rare disease and has been scarcely reported by African authors. The authors report a case of breast NEC in a 13-year-old African girl initially diagnosed as an atypical adenofibroma by ultrasonography. Ultrasound-guided biopsy and conventional histological examination indicated two potential diagnoses: primary malignant non-Hodgkin's lymphoma and undifferentiated carcinoma. According to immunohistochemistry performed on paraffin blocks in France, infiltrating ductal carcinoma with a strong neuroendocrine component was confirmed by CD56, CD57, and chromogranin A markers. PMID:29082059

Cerebral Proliferative Angiopathy (CPA): Imaging Findings and Response to Therapy.

PubMed

Lopci, Egesta; Olivari, Laura; Bello, Lorenzo; Navarria, Pierina; Chiti, Arturo

2016-12-01

We report the case of a 55-year-old woman with cerebral proliferative angiopathy (CPA). Her medical history included brain surgery for small vascular lesions and suspicion of cerebral malignancy. C methionine PET (C-METH PET) demonstrated a diffusely increased uptake on the right hemisphere. Contrast-enhanced MRI documented a massive lesion with a diffuse "nidus" appearance, involving the right cerebral hemisphere (sparing the inferior frontal gyrus and the anterior frontal lobe), the brainstem, and the middle cerebellar peduncle. Pathology confirmed the diagnosis of CPA and, after radiation treatment, the patient presented with clinical and radiological response.

[Tanning lamp radiation-induced photochemical retinal damage].

PubMed

Volkov, V V; Kharitonova, N N; Mal'tsev, D S

2014-01-01

On the basis of original clinical research a rare case of bilateral retinal damage due to tanning lamp radiation exposure is presented. Along with significant decrease of visual acuity and light sensitivity of central visual field as well as color vision impairment, bilateral macular dystrophy was found during an ophthalmoscopy and confirmed by optical coherent tomography and fluorescent angiography. Intensive retinoprotective, vascular, and antioxidant therapy was effective and led to functional improvement and stabilization of the pathologic process associated with photochemical retinal damage. A brief review of literature compares mechanisms of retinal damage by either short or long-wave near visible radiation.

Values of pathological analysis of lost tissue fragments in the vacuum canister during a vacuum-assisted stereotactic biopsy of the breast.

PubMed

El Khoury, M; Mesurolle, B; Omeroglu, A; Aldis, A; Kao, E

2013-05-01

Determine values of pathological analysis of the canister content during a vacuum-assisted breast biopsy (VABB). Approval was obtained from the ethical committee. Prospective radiological and pathological analyses of the canister content collected during 231 VABBs performed on 231 patients were carried out. χ(2) test was used to determine predictors on canister pathology. The canister pathology was reported separately in 212 cases. It showed only blood in 78/212 (37%) cases and benign (including high-risk lesions) and malignant results in, respectively, 113/212 (53%) and 21/212 (10%) cases. Respective specimen analysis was benign, including high-risk lesions in 162/212 cases (76%) and malignant in 50/212 (24%) cases. Microcalcifications were documented on canister X-ray in 70/231 (30%) cases. There was significant association between the canister and the specimen pathology (p<0.0001). In none of the cases was microcalcifications seen exclusively in the canister content or pathological upgrading found in the canister content compared with the specimen. Small tissue fragments and microcalcifications may be lost in the canister during a VABB. Nevertheless, our results did not show any significant value for systematic analysis of the canister content. There is no added diagnostic value to retrieval and analysis of tissue lost in the canister during a VABB.

Intratumoral peripheral small papillary tufts: a diagnostic clue of renal tumors associated with Birt-Hogg-Dubé syndrome.

PubMed

Kuroda, Naoto; Furuya, Mitsuko; Nagashima, Yoji; Gotohda, Hiroko; Moritani, Suzuko; Kawakami, Fumi; Imamura, Yoshiaki; Bando, Yoshimi; Takahashi, Masayuki; Kanayama, Hiro-omi; Ota, Satoshi; Michal, Michal; Hes, Ondrej; Nakatani, Yukio

2014-06-01

In this article, we searched for the common histologic characteristic of renal tumors in patients with Birt-Hogg-Dubé syndrome (BHDS). We selected 6 patients with histologically confirmed renal tumor in BHDS. Germline FLCN gene mutation has been identified in 5 patients. Multifocality and bilaterality of the renal tumors were pathologically or radiologically confirmed in 5 and 2 cases, respectively. Histologic subtypes of the dominant tumor included 3 previously described hybrid oncocytic tumors, one composite chromophobe/papillary/clear cell renal cell carcinoma (RCC) and one unclassified RCC resembling hybrid chromophobe/clear cell RCC. In one case, chromophobe RCC and clear cell RCC were separately observed. Small papillary lesions located in the peripheral area of the tumor, which we designated as intratumoral peripheral small papillary tufts, were identified in all patients. In conclusion, multifocality/bilaterality of renal tumors, discordance of histologic subtypes, and the presence of intratumoral peripheral small papillary tufts may be important clues to identify BHDS-associated renal tumors. Copyright © 2014 Elsevier Inc. All rights reserved.

Adenoviral hemorrhagic disease in California mule deer, 1990-2014.

PubMed

Woods, Leslie W; Schumaker, Brant A; Pesavento, Patricia A; Crossley, Beate M; Swift, Pamela K

2018-03-01

We reviewed case records from the California Animal Health and Food Safety (CAHFS) laboratory and the California Department of Fish and Wildlife (CDFW) spanning 25 years (1990-2014) for all deer accessions submitted to CAHFS for pathology and/or histopathology, with and without a diagnosis of adenoviral hemorrhagic disease (AHD), in order to determine the prevalence of AHD in California. We also examined spatial and temporal distribution, age, and mule deer subspecies in deer that died from AHD. Of 483 deer submitted to CAHFS for diagnostic testing in 1990-2014, 17.2% were diagnosed with confirmed AHD, and 26.5% were confirmed plus suspected cases of AHD. Columbian black-tailed deer ( Odocoileus hemionus columbianus), particularly fawns and juveniles, were most frequently affected. Deer adenovirus ( Odocoileus adenovirus 1; OdAdV-1) was detected by immunohistochemistry in archived CDFW formalin-fixed, paraffin-embedded tissues from deer that died in mortality events in 1981, 1983, and 1986-1987. OdAdV-1 is a common cause of hemorrhagic disease mortality events in California deer, and mortality as a result of AHD is documented as early as 1981.

Investigation and identification of etiologies involved in the development of acquired hydronephrosis in aged laboratory mice with the use of high-frequency ultrasound imaging

PubMed Central

Springer, Danielle A.; Allen, Michele; Hoffman, Victoria; Brinster, Lauren; Starost, Matthew F.; Bryant, Mark; Eckhaus, Michael

2014-01-01

Laboratory mice develop naturally occurring lesions that affect biomedical research. Hydronephrosis is a recognized pathologic abnormality of the mouse kidney. Acquired hydronephrosis can affect any mouse, as it is caused by any naturally occurring disease that impairs free urine flow. Many etiologies leading to this condition are of particular significance to aging mice. Non-invasive ultrasound imaging detects renal pelvic dilation, renal enlargement, and parenchymal loss for pre-mortem identification of this condition. High-frequency ultrasound transducers produce high-resolution images of small structures, ideal for detecting organ pathology in mice. Using a 40 MHz linear array transducer, we obtained high-resolution images of a diversity of pathologic lesions occurring within the abdomen of seven geriatric mice with acquired hydronephrosis that enabled a determination of the underlying etiology. Etiologies diagnosed from the imaging results include pyelonephritis, neoplasia, urolithiasis, mouse urologic syndrome, and spontaneous hydronephrosis, and were confirmed at necropsy. A retrospective review of abdominal scans from an additional 149 aging mice shows that the most common etiologies associated with acquired hydronephrosis are mouse urologic syndrome and abdominal neoplasia. This report highlights the utility of high-frequency ultrasound for surveying research mice for age-related pathology, and is the first comprehensive report of multiple cases of acquired hydronephrosis in mice. PMID:25143818

Current diagnosis and treatment of chronic subdural haematomas

PubMed Central

Iliescu, IA

2015-01-01

A developed society is usually also characterized by an elderly population, which has a continuous percentage growth. This population frequently presents a cumulus of medical pathologies. With the development of the medication and surgical treatment of different affections, the life span has increased and the pathology of an old patient has diversified as far as the cumulus of various pathological diseases in the same person is concerned. Chronic subdural pathologies represent an affection frequently met in neurosurgery practice. Any neurosurgeon, neurologist and not only, has to be aware of the possibility of the existence of a chronic subdural haematoma, especially when the patient is old and is subjected to an anticoagulant or antiaggregant treatment, these 2 causes being by far the etiological factors most frequently met in chronic subdural haematomas. With an adequate diagnosis and treatment, usually surgical, the prognosis is favorable. Although the surgical treatment presents a categorical indication in most of the cases, the fact that there are many surgical techniques, a great relapse rate, as well as the numerous studies, which try to highlight the efficiency of a technique as compared to another, demonstrate that the treatment of these haematomas is far from reaching a consensus among the neurosurgeons. The latest conservatory treatment directions are still being studied and need many years to be confirmed. Abbreviations: CT = computerized tomography, MRI = magnetic resonance imaging PMID:26351527

Risk of incident clinical diagnosis of AD-type dementia attributable to pathology-confirmed vascular disease

PubMed Central

Dodge, Hiroko H.; Zhu, Jian; Woltjer, Randy; Nelson, Peter T.; Bennett, David A.; Cairns, Nigel J.; Fardo, David W.; Kaye, Jeffrey A.; Lyons, Deniz-Erten; Mattek, Nora; Schneider, Julie A; Silbert, Lisa C.; Xiong, Chengjie; Yu, Lei; Schmitt, Frederick A.; Kryscio, Richard J.; Abner, Erin L.

2016-01-01

Introduction Presence of cerebrovascular pathology may increase the risk of clinical diagnosis of AD. Methods We examined excess risk of incident clinical diagnosis of AD (probable and possible AD) posed by the presence of lacunes and large infarcts beyond AD pathology using data from the Statistical Modelling of Aging and Risk of Transition (SMART) study, a consortium of longitudinal cohort studies with over 2000 autopsies. We created six mutually exclusive pathology patterns combining three levels of AD pathology (low, moderate or high AD pathology) and two levels of vascular pathology (without lacunes and large infarcts or with lacunes and/or large infarcts). Results The coexistence of lacunes and large infarcts results in higher likelihood of clinical diagnosis of AD only when AD pathology burden is low. Discussion Our results reinforce the diagnostic importance of AD pathology in clinical AD. Further harmonization of assessment approaches for vascular pathologies is required. PMID:28017827

Whole Slide Imaging Versus Microscopy for Primary Diagnosis in Surgical Pathology: A Multicenter Blinded Randomized Noninferiority Study of 1992 Cases (Pivotal Study).

PubMed

Mukhopadhyay, Sanjay; Feldman, Michael D; Abels, Esther; Ashfaq, Raheela; Beltaifa, Senda; Cacciabeve, Nicolas G; Cathro, Helen P; Cheng, Liang; Cooper, Kumarasen; Dickey, Glenn E; Gill, Ryan M; Heaton, Robert P; Kerstens, René; Lindberg, Guy M; Malhotra, Reenu K; Mandell, James W; Manlucu, Ellen D; Mills, Anne M; Mills, Stacey E; Moskaluk, Christopher A; Nelis, Mischa; Patil, Deepa T; Przybycin, Christopher G; Reynolds, Jordan P; Rubin, Brian P; Saboorian, Mohammad H; Salicru, Mauricio; Samols, Mark A; Sturgis, Charles D; Turner, Kevin O; Wick, Mark R; Yoon, Ji Y; Zhao, Po; Taylor, Clive R

2018-01-01

Most prior studies of primary diagnosis in surgical pathology using whole slide imaging (WSI) versus microscopy have focused on specific organ systems or included relatively few cases. The objective of this study was to demonstrate that WSI is noninferior to microscopy for primary diagnosis in surgical pathology. A blinded randomized noninferiority study was conducted across the entire range of surgical pathology cases (biopsies and resections, including hematoxylin and eosin, immunohistochemistry, and special stains) from 4 institutions using the original sign-out diagnosis (baseline diagnosis) as the reference standard. Cases were scanned, converted to WSI and randomized. Sixteen pathologists interpreted cases by microscopy or WSI, followed by a wash-out period of ≥4 weeks, after which cases were read by the same observers using the other modality. Major discordances were identified by an adjudication panel, and the differences between major discordance rates for both microscopy (against the reference standard) and WSI (against the reference standard) were calculated. A total of 1992 cases were included, resulting in 15,925 reads. The major discordance rate with the reference standard diagnosis was 4.9% for WSI and 4.6% for microscopy. The difference between major discordance rates for microscopy and WSI was 0.4% (95% confidence interval, -0.30% to 1.01%). The difference in major discordance rates for WSI and microscopy was highest in endocrine pathology (1.8%), neoplastic kidney pathology (1.5%), urinary bladder pathology (1.3%), and gynecologic pathology (1.2%). Detailed analysis of these cases revealed no instances where interpretation by WSI was consistently inaccurate compared with microscopy for multiple observers. We conclude that WSI is noninferior to microscopy for primary diagnosis in surgical pathology, including biopsies and resections stained with hematoxylin and eosin, immunohistochemistry and special stains. This conclusion is valid across a wide variety of organ systems and specimen types.

Don’t get caught out! A rare case of a calcified urachal remnant mimicking a bladder calculus

PubMed Central

Rodrigues, Jonathan Carl Luis; Gandhi, Sanjay

2013-01-01

Computer tomography through the kidneys, ureters and bladder (CT KUB) is the mainstay investigation of suspected renal tract calculi. However, several pathologies other than renal tract calculi can cause apparent urinary bladder calcification. We describe the case of a 45 year old man who presented with left sided renal colic. Prone CT KUB performed on admission revealed a calcified urachal remnant mimicking a urinary bladder calculus in the dependent portion of the urinary bladder, confirmed by reviewing the multi-planar reformatted images. This is the first reported case in the literature of this phenomenon. We discuss the importance of using multi-planar reformatted images (MPR) and maximum intensity projection images (MIP), as well as careful review of previous imaging, in making the correct diagnosis. We also discuss the differential diagnoses that should be considered when presented with urinary bladder calcification. PMID:23705044

CD34 + tumours of the orbit including solitary fibrous tumours: a six-case series.

PubMed

Jung, Su Kyung; Paik, Ji Sun; Park, Gyeong Sin; Yang, Suk-Woo

2017-04-27

To report six cases of CD34+ fibroblastic mesenchymal tumours, which are uncommon neoplasms in the orbit. Six patients presenting with proptosis and palpable mass who were later diagnosed with fibrous solitary tumours, fibrous histocytoma or haemangiopericytoma in the orbit were included. All patients received radiologic examinations and surgical excision for histopathology and immunohistochemistry examinations. Five patients had no recurrence after a minimum follow-up of 12 months. One patient (case 6) experienced recurrence twice, and had debulking surgeries each time. At present, the patient still has remnant tumour in the orbit, but no growth has been detected during the past two years. The tumour size will be closely monitored. Even though fibroblastic tumours are rarely found in the orbit, they can present as a palpable mass with proptosis. Complete surgical excision is important for long-term prognosis, and immunohistochemical study is helpful for confirming pathologic diagnosis.

Sarcoid granulomas in the parathyroid gland - a case of dual pathology: hypercalcaemia due to a parathyroid adenoma and coexistent sarcoidosis with granulomas located within the parathyroid adenoma and thyroid gland.

PubMed

Balasanthiran, Anjali; Sandler, Belinda; Amonoo-Kuofi, Kwamena; Swamy, Rajiv; Kaniyur, Sunil; Kaplan, Felicity

2010-01-01

We present a highly unusual and interesting case of coexistent hyperparathyroidism and sarcoidosis leading to hypercalcaemia. A 70 year old female presented with weight loss, constipation and dehydration. Investigations revealed marked hypercalcaemia with a non-suppressed PTH. In view of the degree of hypercalcaemia as well as the unintentional weight loss, investigations for malignancy were conducted -these were negative. Parathyroid imaging was then requested and an adenoma was identified. Surprisingly, surgery revealed the coexistence of a parathyroid adenoma with the unexpected finding of sarcoid granulomas within the parathyroid and thyroid glands. To our knowledge, this is the first such case reported. Further imaging confirmed pulmonary sarcoidosis and a serum ACE was elevated. Serum calcium levels did not respond to parathyroidectomy but eventually fell with steroid therapy.

Small cell sweat gland carcinoma of childhood

PubMed Central

Drut, R; Giménez, O P; Oliva, J

2005-01-01

Small cell sweat gland carcinoma appears to represent a very unusual histological type of sweat gland anlage tumour presenting in children. The differential diagnosis from other small blue cell tumours involving the skin is often difficult. The present report confirms the original observation describing two patients of 2 and 5 years of age harbouring cutaneous tumours. The histology of these lesions showed a monomorphic proliferation of small cells with a high mitotic rate and areas of necrosis. Immunohistochemically, the cells were negative for desmin, cytokeratin 7, cytokeratin 20, Cam 5.2, CD99, chromogranin, CD56, synaptophysin, and S-100, and focally positive for the pancytokeratin marker AE1/AE3, carcinoembryonic antigen (one case), and neurone specific enolase (one case). The prognosis of this type of tumour seems to be good. As more cases are added, the clinical pathological spectrum of the lesion will become better defined. PMID:16311358

Breast Implant-Associated Anaplastic Large Cell Lymphoma: Case Report and Review of the Literature.

PubMed

Berlin, Eva; Singh, Kunwar; Mills, Christopher; Shapira, Ilan; Bakst, Richard L; Chadha, Manjeet

2018-01-01

We are reporting the case of a 58-year-old woman with history of bilateral silicone breast implants for cosmetic augmentation. At 2-year interval from receiving the breast implants, she presented with swelling of the right breast with associated chest wall mass, effusion around the implant, and axillary lymphadenopathy. Pathology confirmed breast implant-associated anaplastic large cell lymphoma (stage III, T4N2M0, using BIA-ALCL TNM staging and stage IIAE, using Ann-Arbor staging). The patient underwent bilateral capsulectomy and right partial mastectomy with excision of the right breast mass and received adjuvant CHOP chemotherapy and radiation to the right breast and regional nodes. Since completion of multimodality therapy, the patient has sustained remission on both clinical exam and PET/CT scan. We report this case and review of the literature on this rare form of lymphoma.

Breast Implant-Associated Anaplastic Large Cell Lymphoma: Case Report and Review of the Literature

PubMed Central

Singh, Kunwar; Mills, Christopher; Shapira, Ilan

2018-01-01

We are reporting the case of a 58-year-old woman with history of bilateral silicone breast implants for cosmetic augmentation. At 2-year interval from receiving the breast implants, she presented with swelling of the right breast with associated chest wall mass, effusion around the implant, and axillary lymphadenopathy. Pathology confirmed breast implant-associated anaplastic large cell lymphoma (stage III, T4N2M0, using BIA-ALCL TNM staging and stage IIAE, using Ann-Arbor staging). The patient underwent bilateral capsulectomy and right partial mastectomy with excision of the right breast mass and received adjuvant CHOP chemotherapy and radiation to the right breast and regional nodes. Since completion of multimodality therapy, the patient has sustained remission on both clinical exam and PET/CT scan. We report this case and review of the literature on this rare form of lymphoma. PMID:29607225

Thoracic and diaphragmatic endometriosis: Single-institution experience using a novel broadened diagnostic criteria

PubMed

Larraín, Demetrio; Suárez, Francisco; Braun, Hernán; Chapochnick, Javier; Diaz, Lidia; Rojas, Iván

2018-06-05

To describe our experience with the multidisciplinary management of both thoracic/diaphragmatic endometriosis (TED), applying a broadened definition of the “thoracic endometriosis syndrome (TES)” to define cases. We present a retrospective series of consecutive patients affected by pathology-proven TED, treated at our institution, during a period of 7 years. Five women were included. Two cases were referred due to catamenial chest/shoulder pain, one due to recurrent catamenial pneumothorax, one due to new-onset diaphragmatic hernia. One patient had not thoracic symptoms, and diaphragmatic endometriosis was found during gynecologic laparoscopy for pelvic endometriosis. Endometriosis was histologically confirmed in all cases. After follow-up all patients remain asymptomatic. Broadened TES criteria could increase the incidence of TED and determine better knowledge of this condition. Multidisciplinary, minimally invasive surgery is effective and safe, but should be reserved to tertiary referral centers.

Prader-Willi syndrome: is there a recognizable fetal phenotype?

PubMed

Bigi, Nicole; Faure, Jean-Michel; Coubes, Christine; Puechberty, Jacques; Lefort, Geneviève; Sarda, Pierre; Blanchet, Patricia

2008-09-01

To determine fetal features, which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy. We analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy. In the first case, diminished fetal movement, polyhydramnios and oddly positioned hands and feet suggested PWS. Methylation studies confirmed diagnosis and a deletion was detected in the 15q11-q13 region. In the second case, similar ultrasound findings led to prenatal diagnosis of PWS with an abnormal methylation pattern compatible with uniparental disomy. Both fetuses had a characteristic appearance at 28 and 30 weeks' gestation, which included a peculiar position of hands with flexed wrists and dorsi-extended feet with flexed toes. The peculiar position of the extremities combined with diminished fetal movement and polyhydramnios seems to be characteristic and should suggest PWS. Copyright (c) 2008 John Wiley & Sons, Ltd.

[Sudden death secondary to acute aortic syndromes in the North of Portugal: medico-legal study].

PubMed

Moreira, Pedro Costa; Santos, Agostinho

2013-01-01

An evaluation is presented on the clinical, pathological and sociodemographic characteristics of a sample of sudden death victims secondary to an Acute Aortic Syndrome (AAS) in the north of Portugal, submitted to medico-legal autopsy, during the period between January 2008 and December 2012. Autopsy reports were analyzed in which, through necropsy and histological examination, the confirmed cause of death was an Acute Aortic Syndrome. From the studied cases, 70.3% of the victims were male. The median age was 65,19 ± 14,35 years (minimum of 27 years and maximum of 88 years). Death occurred mainly at home (40,5%) and during the normal activities of daily living (43,1%). There was an history of prodromes in 64,9% of the cases, mainly syncope and pain or respiratory symptoms. In 62,2% of the cases no pain history was reported. In the internal examination three presentation forms were identified: cardiac tamponade (51,4%); hemotorax (16,2%) and intra-abdominal bleeding (32,4%). The occurence of an Acute Aortic Syndrome was related to an aneurysmatic formation in 81% of the cases. Atherosclerotic plaques were identified in 51,4% of the cases and left ventricular hypertrophy was identified in 54,1%. None of the victims had a family history of aortic pathology and 54,1% of them presented a history of arterial hypertension. Necropsy data analysis of sudden death victims allows a better understanding of the AAS presentation, thus complementing the existent clinical studies. This work reveals how forensic medicine can be a privileged medium for articulation with clinical practice.

Late post-treatment radiographic changes 3 years following chemoradiation for glioma: the importance of histopathology.

PubMed

Galante, Joao R; Rodriguez, Fausto; Grossman, Stuart A; Strowd, Roy E

2017-07-18

Treatment-related changes can mimic brain tumor progression both clinically and radiographically. Distinguishing these two entities represents a major challenge in neuro-oncology. No single imaging modality is capable of reliably achieving such distinction. While histopathology remains the gold standard, definitive pathological criteria are also lacking which can further complicate such cases. We report a patient with high-grade glioma who, after initially presenting with histopathologically confirmed pseudoprogression 10 months following treatment, re-presented 3 years following concurrent chemoradiation with clinical and radiographic changes that were most consistent with progressive disease but for which histopathology revealed treatment effects without active glioma. This case highlights the potential late onset of treatment-related changes and underscores the importance of histopathologic assessment even years following initial therapy.

Unique Presentation of Orf Virus Infection in a Thermal-Burn Patient After Receiving an Autologous Skin Graft.

PubMed

Hsu, Christopher H; Rokni, Ghasem Rahmatpour; Aghazadeh, Nessa; Brinster, Nooshin; Li, Yu; Muehlenbachs, Atis; Goldsmith, Cynthia S; Zhao, Hui; Petersen, Brett; McCollum, Andrea M; Reynolds, Mary G

2016-10-15

We describe a burn patient who developed skin lesions on her skin-graft harvest and skin-graft recipient (burn) sites. Orf virus infection was confirmed by a combination of diagnostic assays, including molecular tests, immunohistochemical analysis, pathologic analysis, and electron microscopy. DNA sequence analysis grouped this orf virus isolate among isolates from India. Although no definitive source of infection was determined from this case, this is the first reported case of orf virus infection in a skin graft harvest. Skin graft recipients with exposures to animals may be at risk for this viral infection. Published by Oxford University Press for the Infectious Diseases Society of America 2016. This work is written by (a) US Government employee(s) and is in the public domain in the US.

Diffuse alveolar hemorrhage due to metastatic angiosarcoma of the lung: A case report

PubMed Central

PAN, ZHIJIE; AN, ZHOU; LI, YANYUAN; ZHOU, JIANYING

2015-01-01

Angiosarcoma is a rare, heterogeneous malignant tumor that derives from endothelial cells, and it has aggressive characteristics with a marked tendency for distant metastasis. Diffuse alveolar hemorrhage (DAH) is a catastrophic clinical syndrome, however, it is rare as the presentation of pulmonary angiosarcoma. To increase awareness with regard to angiosarcoma and DAH, the current study presents a case of angiosarcoma that originated from the subcutaneous soft tissue of the mastoid process, but was subject to a delayed diagnosis and rapid invasion into the brain and lung. The metastatic angiosarcoma of the lung presented with DAH as the initial manifestation. The pathological examination of a biopsy of the subcutaneous mass and pulmonary lesions confirmed the diagnosis of angiosarcoma. The patient succumbed to respiratory failure at 1 month post-diagnosis. PMID:26788222

[Wilms' tumor, multiple intestinal parasitosis and typhoid fever].

PubMed

Franco Vega, G; Llausás Vargas, A; Kumate, J

1977-01-01

The case was that of a 21-month-old infant who presented a great inoperable Wilm's tumor that was treated with vincristine to the point of practically disappearing. Severe typhoid fever that was complicated by multiple intestinal parasitoses (ascariasis, trichuriasis, giardiasis and strongyloidiasis) appeared. Possibly, tumoral necrosis, salmonellosis and the parasitoses formed a sac that opened to the hepatic angle of the colon. Finally, multiple liver metastases were discovered and confirmed pathologically. The patient died 36 hours after surgical reexamination and liver biopsies, from causes not clearly explained. Comments are made on the diagnostic problems originated by rareness of the association of typhoid fever resistant to chloramphenicol, intestinal parasitoses and a great Wilms' tumor and the possible influence of chemotherapy and radiotherapy in the evolution of the case.

A case of nivolumab-related cholangitis and literature review: how to look for the right tools for a correct diagnosis of this rare immune-related adverse event.

PubMed

Gelsomino, Francesco; Vitale, Giovanni; Ardizzoni, Andrea

2018-02-01

Anti-programmed cell death-1 (PD-1) monoclonal antibodies, such as nivolumab, used for the treatment of several tumors, can trigger effector T-cells against tumor- and self-antigens, leading to the occurrence of different immune-related adverse events. Among them, liver injuries are rare and usually transient. To date, only four cases of immune-related cholangitis in non-small cell lung cancer (NSCLC) patients have been described during nivolumab treatment. Here, we describe laboratory tests, imaging and liver biopsy features that confirm this diagnosis as opposed to other forms of autoimmune liver disease; nevertheless, we also provide evidence of the presence of different clinical-pathological patterns of immune-related cholangitis.

Iron storage disease in tapirs.

PubMed

Bonar, Christopher J; Trupkiewicz, John G; Toddes, Barbara; Lewandowski, Albert H

2006-03-01

Recent studies of serum iron and iron binding capacity have indicated that tapirs could be at risk of developing hemochromatosis. However, in recent surveys of pathologic findings in tapirs, hemochromatosis was not reported as a cause of death. This study reviews necropsy reports from three species of tapir (Baird's tapir [Tapirus bairdii], Malayan tapir [Tapirus indicus], and Brazilian tapir [Tapirus terrestris]) at the Philadelphia Zoological Garden between 1902 and 1994. Twelve cases of hemosiderosis, including fatal hemochromatosis in two Baird's tapirs, were found among 19 cases examined histologically. Hemochromatosis has previously been reported in the horse, rhinoceros, and in one Brazilian tapir. Dietary factors were investigated but could not be confirmed to have contributed to the incidence of hemosiderosis and hemochromatosis in the three species of tapir in the Philadelphia Zoological Garden collection.

Mirizzi syndrome--a report of 3 cases with a review of the present classifications.

PubMed

Khan, T F; Muniandy, S; Hayat, F Z; Sherazi, Z A; Nawaz, M H

1999-03-01

We report three cases of Mirizzi syndrome, two with external compression of the common hepatic duct and another with cystobiliary fistula. All patients presented with jaundice. The diagnosis was suggested by ultrasonography and confirmed by endoscopic retrograde cholangiography (ERC). All three had the stones removed surgically, one through a choledochotomy, another through an opening in the gall bladder and the third at the time of subtotal cholecystectomy. We would like to propose a simple classification of Mirizzi syndrome, based on surgical procedures necessary for the correction of the pathological anatomy. If it involves the removal of calculi with some form of cholecystectomy, we consider it as Type I, whereas Type II involves the construction of a hepaticojejunostomy apart from the removal of calculi.

Headache due to an osteochondroma of the axis.

PubMed

Kouwenhoven, J W M; Wuisman, P I J M; Ploegmakers, J F

2004-12-01

We reported a case of a 42-year-old man with a 3-year history of headache due to a spinal osteochondroma. Repeated neurological evaluation, including EEG studies and CT of the cerebrum, revealed no pathology. More recently the patient presented with persistent headache and a slight limitation of neck motion. MRI studies of the cerebrum including the cervical spine showed a high cervical extradural tumor. Additional CT angiography showed a bony tumor suspected of being a spinal osteochondroma. An en bloc resection of the tumor was performed; histological evaluation confirmed the diagnosis. Immediately after intervention, all symptoms disappeared. In most patients with a spinal osteochondroma, the lesion causes no symptoms, or symptoms are aspecific. Therefore, there is often a significant delay between initial complaints and the diagnosis, as in the current case.

Imaging and histology in the diagnosis of multiple papillary fibroelastomas in a patient with hypertrophic obstructive cardiomyopathy. Case report.

PubMed

Ionescu, Alin Alexandru; Radulescu, Bogdan; Herlea, Vlad; Miclea, Ioan; Parepa, Irinel; Bubenek, Serban; Popescu, Bogdan Alexandru; Ginghina, Carmen; Jurcut, Ruxandra

2017-11-29

Papillary fibroelastomas (PFEs) are one of the most frequent primary cardiac tumors and occur more often in patients with hypertrophic obstructive cardiomyopathy (HOCM). PFEs have been linked to an increased risk of neurological events. We report a case of a 59-year-old woman with HOCM in whom echocardiography (transthoracic and transesophageal, using 2D and 3D techniques) revealed multiple masses in various locations in the left cardiac chambers. Surgical excision of the cardiac tumors and aortic valve replacement was performed and the pathologic report confirmed the diagnosis of PFEs. Patient followup using ultrasonography is crucial since recurrence is a possibility. Current cardiac ultrasound techniques are essential for diagnosing and for guiding the management of these conditions.

[Melanoma of sphenoid sinus. Case presentation and review of literature].

PubMed

Pino Rivero, V; Keituqwa Yánez, T; Marcos García, M; Trinidad Ruíz, G; Pardo Romero, G; Blasco Huelva, A

2004-01-01

The primary malignant melanomas of sphenoidal sinus are very uncommon tumours. We are reporting a clinical case of a 56 years-old male who was sent from the Neurology Department with ocular pain and headache of several months evolution and without personal history. Exploration revealed a VIth palsy, diplopia and ptosis. The complementary imaging tests (CT and MR) showed and expansive tumour of the sphenoidal sinus involving the right cavenous sinus. A F.E.S.S. with biopsy was performed to confirm the diagnosis. Our patient was treated by Radiotherapy and after a 4 year follow-up period he is still alive. We have carried to a bibliographic review of this pathology whose differential diagnosis must be done with epidermoid carcinomas, adenocarcinomas and lymphomas on that location.

Acute intestinal obstruction due to metastatic lung cancer—case report

PubMed Central

2017-01-01

Abstract We present a case of male patient, who was referred to our department because of acute intestinal obstruction, which was the initial clinical symptom of primary lung cancer. The abdominal computed tomography (CT) prior to the emergency operation showed small intestinal obstruction and metastases to both adrenal glands. The patient underwent an emergency abdominal exploratory laparotomy, that confirmed small bowel obstruction and diffuse metastatic lesions along the entire small bowel length. During the operation we took a sample of one metastasis for pathological examination and we created an intestinal bypass to relieve small bowel obstruction. The pathologist suspected to primary lung cancer according to the immunohistochemical staining. The chest CT after the emergency operation showed a large primary tumor in the left upper pulmonary lobe. PMID:28458837

Carbon Dioxide Laser Ablation of Basal Cell Carcinoma with Visual Guidance by Reflectance Confocal Microscopy: A Proof of Principle Pilot Study

PubMed Central

Hibler, B.P.; Sierra, H.; Cordova, M.; Phillips, W.; Rajadhyaksha, M.; Nehal, K.S.; Rossi, A.M.

2016-01-01

Background Laser ablation is an alternative, non-surgical treatment modality for low-risk basal cell carcinoma (BCC); however, lack of confirmative tumour destruction or residual tumour presence has been a limiting factor to adoption. Reflectance confocal microscopy (RCM) provides non-invasive, cellular-level resolution imaging of the skin and is capable of identifying tumour. Objective To evaluate the use of RCM to guide carbon dioxide (CO2) laser ablation of BCC, confirm destruction, and correlate findings with histology. Methods RCM was used pre-ablation to evaluate for features of BCC. Ablation was performed with a CO2 laser, and the response rapidly assessed using handheld RCM to evaluate for residual tumour. Confirmative pathology was used to verify confocal imaging. Results RCM imaging identified tumour pre-ablation with features not identified on normal, surrounding skin. Post-ablation, RCM documented complete removal of tumour in six cases and residual tumour in two. Histologic examination identified the ablated area and confirmed clearance of tumour in the six aforementioned cases and corroborated confocal findings for residual tumour in the other two cases. Conclusions We report successful treatment of superficial and nodular BCC using CO2 laser ablation augmented by RCM imaging for pre-ablation guidance and verification of tumour removal post-ablation. Akin to complete circumferential and deep margin control techniques, using RCM helps to map peripheral and deep BCC margins to hone in on areas exhibiting persistent tumour after ablation. CO2 laser ablation visually guided by RCM can help circumvent previously cited limiting factors of laser ablation for tumour destruction by providing cellular-level resolution imaging of tumour and margin assessment in between each laser pass and post-ablation. PMID:26800657

Carbon dioxide laser ablation of basal cell carcinoma with visual guidance by reflectance confocal microscopy: a proof-of-principle pilot study.

PubMed

Hibler, B P; Sierra, H; Cordova, M; Phillips, W; Rajadhyaksha, M; Nehal, K S; Rossi, A M

2016-06-01

Laser ablation is an alternative, nonsurgical treatment modality for low-risk basal cell carcinoma (BCC). However, lack of confirmative tumour destruction or residual tumour presence has been a limiting factor to its adoption. Reflectance confocal microscopy (RCM) provides noninvasive, cellular-level resolution imaging of the skin and is capable of identifying tumour. To evaluate the use of RCM to guide carbon dioxide (CO2 ) laser ablation of BCC, confirm destruction and correlate findings with histology. RCM was used preablation to evaluate for features of BCC. Ablation was performed with a CO2 laser, and the response rapidly assessed using handheld RCM to evaluate for residual tumour. Confirmative pathology was used to verify confocal imaging. Preablation RCM imaging identified tumour with features not identified on normal, surrounding skin. Postablation, RCM documented complete removal of tumour in six cases and residual tumour in two. Histological examination identified the ablated area and confirmed clearance of tumour in the six aforementioned cases and corroborated confocal findings for residual tumour in the other two cases. We report successful treatment of superficial and nodular BCC using CO2 laser ablation augmented by RCM imaging for preablation guidance and verification of tumour removal postablation. Akin to complete circumferential and deep margin control techniques, using RCM helps to map peripheral and deep BCC margins to hone in on areas exhibiting persistent tumour after ablation. CO2 laser ablation visually guided by RCM can help circumvent previously cited limiting factors of laser ablation for tumour destruction by providing cellular-level resolution imaging of tumour and margin assessment in between each laser pass and postablation. © 2016 British Association of Dermatologists.

Parasitological survey of mangrove oyster, Crassostrea rhizophorae, in the Pacoti River Estuary, Ceará State, Brazil.

PubMed

Sabry, Rachel Costa; Gesteira, Tereza Cristina Vasconcelos; Magalhães, Aimê Rachel Magenta; Barracco, Margherita Anna; Guertler, Cristhiane; Ferreira, Liana Pinho; Vianna, Rogério Tubino; da Silva, Patrícia Mirella

2013-01-01

The mangrove oyster, Crassostrea rhizophorae (Bivalvia, Ostreidae) is commonly collected by fisherwomen in the estuaries of the Ceará State (CE), Northeastern Brazil. Despite the socioeconomic importance of this natural resource, there are few studies on the health of the oysters in this region. This study aimed to survey pathological changes in the mangrove oyster C. rhizophorae in the estuary of the Pacoti River, CE. Adult oysters were collected in August 2008 (N=450) and December 2009 (N=450) at three sites of the Pacoti estuary and in 2010 (N=600) samplings were done quarterly at one site which has showed the higher prevalence de Perkinsus. Macroscopical and histological analyses were used to evaluate pathological changes, Ray's Fluid Thioglycollate Medium (RFTM) to detect Perkinsus spp. and polymerase chain reactions (PCR) and DNA sequencing to identify Perkinsus species. In 2009, RFTM assay detected Perkinsus sp. infecting the tissues of C. rhizophorae with low prevalences of 1.3%, 6.7% e 7.3% in sites 1, 2 and 3, respectively, and in 2010, in site 3, prevalence was 2% (12 of 600 oysters). PCR did not confirm any positive case in 2009 and only 5 in 2010. The phylogenetic analyses strongly indicate that the Perkinsus species infecting oysters C. rhizophorae of this study belongs to Perkinsus beihaiensis. The histology confirmed 11 cases of Perkinsus sp. infecting the C. rhizophorae in 2009, and only two cases in 2010. Nematopsis sp. was the protozoan observed with greater prevalence (up 96.7%). Other found protozoa were: Trichodina, Sphenophrya, Ancistrocoma - like and an unknown ovarian parasite. The metazoa found were the polychaete Polydora with high prevalences, a turbellarian, possibly of the genus Urastoma, an unidentified digenean metacercariae and larvae of cestode Tylocephalum. A continuous monitoring of diseases in bivalves from this natural population is recommended, since the phylogenetic analyses indicate the occurrence of P. beihaiensis infecting oysters C. rhizophorae whose pathogenic potential is unknown. Copyright © 2012 Elsevier Inc. All rights reserved.

A Specific miRNA Signature Correlates With Complete Pathological Response to Neoadjuvant Chemoradiotherapy in Locally Advanced Rectal Cancer

DOE Office of Scientific and Technical Information (OSTI.GOV)

Della Vittoria Scarpati, Giuseppina; Falcetta, Francesca; Carlomagno, Chiara, E-mail: chiara.carlomagno@unina.it

2012-07-15

Purpose: MicroRNAs (miRNAs) are small, noncoding RNA molecules that can be down- or upregulated in colorectal cancer and have been associated to prognosis and response to treatment. We studied miRNA expression in tumor biopsies of patients with rectal cancer to identify a specific 'signature' correlating with pathological complete response (pCR) after neoadjuvant chemoradiotherapy. Methods and Materials: A total of 38 T3-4/N+ rectal cancer patients received capecitabine-oxaliplatin and radiotherapy followed by surgery. Pathologic response was scored according to the Mandard TRG scale. MiRNA expression was analyzed by microarray and confirmed by real-time Reverse Transcription Polymerase Chain Reaction (qRT-PCR) on frozen biopsiesmore » obtained before treatment. The correlation between miRNA expression and TRG, coded as TRG1 (pCR) vs. TRG >1 (no pCR), was assessed by methods specifically designed for this study. Results: Microarray analysis selected 14 miRNAs as being differentially expressed in TRG1 patients, and 13 were confirmed by qRT-PCR: 11 miRNAs (miR-1183, miR-483-5p, miR-622, miR-125a-3p, miR-1224-5p, miR-188-5p, miR-1471, miR-671-5p, miR-1909 Asterisk-Operator , miR-630, miR-765) were significantly upregulated in TRG1 patients, 2 (miR-1274b, miR-720) were downexpressed. MiR-622 and miR-630 had a 100% sensitivity and specificity in selecting TRG1 cases. Conclusions: A set of 13 miRNAs is strongly associated with pCR and may represent a specific predictor of response to chemoradiotherapy in rectal cancer patients.« less

Application of Ultrasound-Guided Core Biopsy to Minimal-Invasively Diagnose Supraclavicular Fossa Tumors and Minimize the Requirement of Invasive Diagnostic Surgery

PubMed Central

Chen, Chun-Nan; Lin, Che-Yi; Chi, Fan-Hsiang; Chou, Chen-Han; Hsu, Ya-Ching; Kuo, Yen-Lin; Lin, Chih-Feng; Chen, Tseng-Cheng; Wang, Cheng-Ping; Lou, Pei-Jen; Ko, Jenq-Yuh; Hsiao, Tzu-Yu; Yang, Tsung-Lin

2016-01-01

Abstract Tumors of the supraclavicular fossa (SC) is clinically challenging because of anatomical complexity and tumor pathological diversity. Because of varied diseases entities and treatment choices of SC tumors, making the accurate decision among numerous differential diagnoses is imperative. Sampling by open biopsy (OB) remains the standard procedure for pathological confirmation. However, complicated anatomical structures of SC always render surgical intervention difficult to perform. Ultrasound-guided core biopsy (USCB) is a minimally invasive and office-based procedure for tissue sampling widely applied in many diseases of head and neck. This study aims to evaluate the clinical efficacy and utility of using USCB as the sampling method of SC tumors. From 2009 to 2014, consecutive patients who presented clinical symptoms and signs of supraclavicular tumors and were scheduled to receive sampling procedures for diagnostic confirmation were recruited. The patients received USCB or OB respectively in the initial tissue sampling. The accurate diagnostic rate based on pathological results was 90.2% for USCB, and 93.6% for OB. No significant difference was noted between USCB and OB groups in terms of diagnostic accuracy and the percentage of inadequate specimens. All cases in the USCB group had the sampling procedure completed within 10 minutes, but not in the OB group. No scars larger than 1 cm were found in USCB. Only patients in the OB groups had the need to receive general anesthesia and hospitalization and had scars postoperatively. Accordingly, USCB can serve as the first-line sampling tool for SC tumors with high diagnostic accuracy, minimal invasiveness, and low medical cost. PMID:26825877

Pathology-related cases in the Norwegian System of Patient Injury Compensation in the period 2010-2015.

PubMed

Alfsen, G Cecilie; Chen, Ying; Kähler, Hanne; Bukholm, Ida Rashida Khan

2016-12-01

The Norwegian System of Patient Injury Compensation (NPE) processes compensation claims from patients who complain about malpractice in the health services. A wrong diagnosis in pathology may cause serious injury to the patient, but the incidence of compensation claims is unknown, because pathology is not specified as a separate category in NPE’s statistics. Knowledge about errors is required to assess quality-enhancing measures. We have therefore searched through the NPE records to identify cases whose background stems from errors committed in pathology departments and laboratories. We have searched through the NPE records for cases related to pathology for the years 2010 – 2015. During this period the NPE processed a total of 26 600 cases, of which 93 were related to pathology. The compensation claim was upheld in 66 cases, resulting in total compensation payments amounting to NOK 63 million. False-negative results in the form of undetected diagnoses were the most frequent grounds for compensation claims (63 cases), with an undetected malignant melanoma (n = 23) or atypia in cell samples from the cervix uteri (n = 16) as the major groups. Sixteen cases involved non-diagnostic issues such as mix-up of samples (n = 8), contamination of samples (n = 4) or delayed responses (n = 4). The number of compensation claims caused by errors in pathology diagnostics is low in relative terms. The errors may, however, be of a serious nature, especially if malignant conditions are overlooked or samples mixed up.

Detection of Pathological Voice Using Cepstrum Vectors: A Deep Learning Approach.

PubMed

Fang, Shih-Hau; Tsao, Yu; Hsiao, Min-Jing; Chen, Ji-Ying; Lai, Ying-Hui; Lin, Feng-Chuan; Wang, Chi-Te

2018-03-19

Computerized detection of voice disorders has attracted considerable academic and clinical interest in the hope of providing an effective screening method for voice diseases before endoscopic confirmation. This study proposes a deep-learning-based approach to detect pathological voice and examines its performance and utility compared with other automatic classification algorithms. This study retrospectively collected 60 normal voice samples and 402 pathological voice samples of 8 common clinical voice disorders in a voice clinic of a tertiary teaching hospital. We extracted Mel frequency cepstral coefficients from 3-second samples of a sustained vowel. The performances of three machine learning algorithms, namely, deep neural network (DNN), support vector machine, and Gaussian mixture model, were evaluated based on a fivefold cross-validation. Collective cases from the voice disorder database of MEEI (Massachusetts Eye and Ear Infirmary) were used to verify the performance of the classification mechanisms. The experimental results demonstrated that DNN outperforms Gaussian mixture model and support vector machine. Its accuracy in detecting voice pathologies reached 94.26% and 90.52% in male and female subjects, based on three representative Mel frequency cepstral coefficient features. When applied to the MEEI database for validation, the DNN also achieved a higher accuracy (99.32%) than the other two classification algorithms. By stacking several layers of neurons with optimized weights, the proposed DNN algorithm can fully utilize the acoustic features and efficiently differentiate between normal and pathological voice samples. Based on this pilot study, future research may proceed to explore more application of DNN from laboratory and clinical perspectives. Copyright © 2018 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Location of colorectal cancer: colonoscopy versus surgery. Yield of colonoscopy in predicting actual location.

PubMed

Blum-Guzman, Juan Pablo; Wanderley de Melo, Silvio

2017-07-01

 Recent studies suggest that differences in biological characteristics and risk factors across cancer site within the colon and rectum may translate to differences in survival. It can be challenging at times to determine the precise anatomical location of a lesion with a luminal view during colonoscopy. The aim of this study is to determine if there is a significant difference between the location of colorectal cancers described by gastroenterologists in colonoscopies and the actual anatomical location noted on operative and pathology reports after colon surgery.  A single-center retrospective analysis of colonoscopies of patient with reported colonic masses from January 2005 to April 2014 (n = 380) was carried. Assessed data included demography, operative and pathology reports. Findings were compared: between the location of colorectal cancers described by gastroenterologists in colonoscopies and the actual anatomical location noted on operative reports or pathology samples.  We identified 380 colonic masses, 158 were confirmed adenocarcinomas. Of these 123 underwent surgical resection, 27 had to be excluded since no specific location was reported on their operative or pathology report. An absolute difference between endoscopic and surgical location was found in 32 cases (33 %). Of these, 22 (23 %) differed by 1 colonic segment, 8 (8 %) differed by 2 colonic segments and 2 (2 %) differed by 3 colonic segments.  There is a significant difference between the location of colorectal cancers reported by gastroenterologists during endoscopy and the actual anatomical location noted on operative or pathology reports after colon surgery. Endoscopic tattooing should be used when faced with any luminal lesions of interest.

Application of Text Information Extraction System for Real-Time Cancer Case Identification in an Integrated Healthcare Organization.

PubMed

Xie, Fagen; Lee, Janet; Munoz-Plaza, Corrine E; Hahn, Erin E; Chen, Wansu

2017-01-01

Surgical pathology reports (SPR) contain rich clinical diagnosis information. The text information extraction system (TIES) is an end-to-end application leveraging natural language processing technologies and focused on the processing of pathology and/or radiology reports. We deployed the TIES system and integrated SPRs into the TIES system on a daily basis at Kaiser Permanente Southern California. The breast cancer cases diagnosed in December 2013 from the Cancer Registry (CANREG) were used to validate the performance of the TIES system. The National Cancer Institute Metathesaurus (NCIM) concept terms and codes to describe breast cancer were identified through the Unified Medical Language System Terminology Service (UTS) application. The identified NCIM codes were used to search for the coded SPRs in the back-end datastore directly. The identified cases were then compared with the breast cancer patients pulled from CANREG. A total of 437 breast cancer concept terms and 14 combinations of "breast"and "cancer" terms were identified from the UTS application. A total of 249 breast cancer cases diagnosed in December 2013 was pulled from CANREG. Out of these 249 cases, 241 were successfully identified by the TIES system from a total of 457 reports. The TIES system also identified an additional 277 cases that were not part of the validation sample. Out of the 277 cases, 11% were determined as highly likely to be cases after manual examinations, and 86% were in CANREG but were diagnosed in months other than December of 2013. The study demonstrated that the TIES system can effectively identify potential breast cancer cases in our care setting. Identified potential cases can be easily confirmed by reviewing the corresponding annotated reports through the front-end visualization interface. The TIES system is a great tool for identifying potential various cancer cases in a timely manner and on a regular basis in support of clinical research studies.

Beyond the temporal pole: limbic memory circuit in the semantic variant of primary progressive aphasia.

PubMed

Tan, Rachel H; Wong, Stephanie; Kril, Jillian J; Piguet, Olivier; Hornberger, Michael; Hodges, John R; Halliday, Glenda M

2014-07-01

Despite accruing evidence for relative preservation of episodic memory in the semantic variant of primary progressive aphasia (previously semantic dementia), the neural basis for this remains unclear, particularly in light of their well-established hippocampal involvement. We recently investigated the Papez network of memory structures across pathological subtypes of behavioural variant frontotemporal dementia and demonstrated severe degeneration of all relay nodes, with the anterior thalamus in particular emerging as crucial for intact episodic memory. The present study investigated the status of key components of Papez circuit (hippocampus, mammillary bodies, anterior thalamus, cingulate cortex) and anterior temporal cortex using volumetric and quantitative cell counting methods in pathologically-confirmed cases with semantic variant of primary progressive aphasia (n = 8; 61-83 years; three males), behavioural variant frontotemporal dementia with TDP pathology (n = 9; 53-82 years; six males) and healthy controls (n = 8, 50-86 years; four males). Behavioural variant frontotemporal dementia cases with TDP pathology were selected because of the association between the semantic variant of primary progressive aphasia and TDP pathology. Our findings revealed that the semantic variant of primary progressive aphasia and behavioural variant frontotemporal dementia show similar degrees of anterior thalamic atrophy. The mammillary bodies and hippocampal body and tail were preserved in the semantic variant of primary progressive aphasia but were significantly atrophic in behavioural variant frontotemporal dementia. Importantly, atrophy in the anterior thalamus and mild progressive atrophy in the body of the hippocampus emerged as the main memory circuit regions correlated with increasing dementia severity in the semantic variant of primary progressive aphasia. Quantitation of neuronal populations in the cingulate cortices confirmed the selective loss of anterior cingulate von Economo neurons in behavioural variant frontotemporal dementia. We also show that by end-stage these neurons selectively degenerate in the semantic variant of primary progressive aphasia with preservation of neurons in the posterior cingulate cortex. Overall, our findings demonstrate for the first time, severe atrophy, although not necessarily neuronal loss, across all relay nodes of Papez circuit with the exception of the mammillary bodies and hippocampal body and tail in the semantic variant of primary progressive aphasia. Despite the longer disease course in the semantic variant of primary progressive aphasia compared with behavioural variant frontotemporal dementia, we suggest here that the neural preservation of crucial memory relays (hippocampal→mammillary bodies and posterior cingulate→hippocampus) likely reflects the conservation of specific episodic memory components observed in most patients with semantic variant of primary progressive aphasia. © The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Renal trematode infection due to Paratanaisia bragai in zoo housed Columbiformes and a red bird-of-paradise (Paradisaea rubra)☆

PubMed Central

Unwin, Steve; Chantrey, Julian; Chatterton, James; Aldhoun, Jitka A.; Littlewood, D. Timothy J.

2012-01-01

Trematode infections affect a diverse range of avian species and the organs that are parasitised are also very varied. The family Eucotylidae contains seven genera of renal flukes that parasitise various birds. In birds, mild to severe lesions have been reported for species of the genus Paratanaisia, which was originally described from columbiform and galliform specimens collected in South America and has been identified in a number of wild avian species. This paper investigates eight cases of renal trematode infection at Chester Zoo in the UK due to Paratanaisia bragai in five previously unreported species: red bird-of-paradise, Socorro dove, Mindanao bleeding heart dove, laughing dove and emerald dove. Pathological changes, which varied between species, are discussed. A known intermediate snail host Allopeas clavulinum was present in the enclosures but there was no direct evidence of trematode infection. The size of the snails, possible low prevalence and the difficulty of visualising sporocysts contributed to this. Thus the development and application of further molecular diagnostic markers that can be applied to snail tissues is warranted. Parasite identification was confirmed utilizing DNA amplification from formalin-fixed paraffin-embedded tissues using PCR and trematode specific primers. Sequencing full ssrDNA and D1-D3 lsrDNA confirmed the identity in all cases as P. bragai. However, the short 310 bp fragment used provides insufficient variation or sequence length for wider application. The epidemiology, pathology and consequences for the management of these endangered species are discussed. Preliminary work on developing an effective ante mortem diagnostic PCR test kit is also highlighted. PMID:24533313

TDP-43 in the hypoglossal nucleus identifies amyotrophic lateral sclerosis in behavioral variant frontotemporal dementia.

PubMed

Halliday, Glenda M; Kiernan, Matthew C; Kril, Jillian J; Mito, Remika; Masuda-Suzukake, Masami; Hasegawa, Masato; McCann, Heather; Bartley, Lauren; Dobson-Stone, Carol; Kwok, John B J; Hornberger, Michael; Hodges, John R; Tan, Rachel H

2016-07-15

The hypoglossal nucleus was recently identified as a key brain region in which the presence of TDP-43 pathology could accurately discriminate TDP-43 proteinopathy cases with clinical amyotrophic lateral sclerosis (ALS). The objective of the present study was to assess the hypoglossal nucleus in behavioral variant frontotemporal dementia (bvFTD), and determine whether TDP-43 in this region is associated with clinical ALS. Twenty-nine cases with neuropathological FTLD-TDP and clinical bvFTD that had not been previously assessed for hypoglossal TDP-43 pathology were included in this study. Of these 29 cases, 41% (n=12) had a dual diagnosis of bvFTD-ALS at presentation, all 100% (n=12) of which demonstrated hypoglossal TDP-43 pathology. Of the 59% (n=17) cohort that presented with pure bvFTD, 35% (n=6) were identified with hypoglossal TDP-43 pathology. Review of the case files of all pure bvFTD cases revealed evidence of possible or probable ALS in 5 of the 6 hypoglossal-positive cases (83%) towards the end of disease, and this was absent from all cases without such pathology. In conclusion, the present study validates grading the presence of TDP-43 in the hypoglossal nucleus for the pathological identification of bvFTD cases with clinical ALS, and extends this to include the identification of cases with possible ALS at end-stage. Crown Copyright © 2016. Published by Elsevier B.V. All rights reserved.

Effectiveness of Intraoperative Parathyroid Monitoring (ioPTH) in predicting a multiglandular or malignant parathyroid disease.

PubMed

Dobrinja, C; Santandrea, G; Giacca, M; Stenner, Elisabetta; Ruscio, Maurizio; de Manzini, Nicolò

2017-05-01

The main goal of our study was to confirm the usefulness of intra-operative parathyroid hormone (PTH) monitoring (ioPTH) when using minimally invasive techniques for treatment of sporadic Primary hyperparathyroidism (pHTP). Furthermore, we aimed to evaluate if ioPTH monitoring may help to predict the etiology of primary hyperparathyroidism, especially in malignant or multiglandular parathyroid disease. A retrospective review of 125 consecutive patients with pHPT who underwent parathyroidectomy between 2001 and 2016 at the Department of General Surgery was performed. For each patient, the specific preoperative work-up consisted of: high-resolution US of the neck by a skilled sonographer, sestamibi parathyroid scan, laryngoscopy, and serum measurement of PTH, serum calcium levels, and serum 25(OH)D levels. The study included 125 consecutive patients who underwent surgery for pHPT. At the histological examination, we registered 113 patients with simple adenomatous pathology (90,4%), 5 atypical adenomas (4%), 3 cases of parathyroid carcinoma (2,4%),, , and 4 histological exams of different nature (3,2%). Overall, 6 cases (4,8%) of multiglandular disease were found. We reported 10 cases (8%) of recurrent/persistent hyperparathyroidism: 1/10 in a patient affected by atypical adenoma, 9/10 in patients with benign pathology. Regarding these 10 cases, in three (30%) patients, ioPTH wasn't dosed (only frozen section (FS) exam was taken), in 5 cases (50%) ioPTH dropped more than 50% compared to basal value (false negative results), and in 2 (20%) cases, ioPTH did not drop >50% from the first samples taken, the extemporary exam had confirmed the presence of adenoma and the probable second hyperfunctioning adenoma was not found. IoPTH determinations ensure operative success of surgical resection in almost all hyperfunctioning tissue; in particular it is very important during minimally invasive parathyroidectomy, as it allows avoiding bilateral neck exploration. The use of ioPTH monitoring offer increased sensitivity in detecting multiglandular disease and can minimize the need and risk associated with recurrent operations, and may facilitate cost-effective minimally invasive surgery. Moreover, intraoperative PTH monitoring could be a reliable marker to predict a malignant disease during parathyroidectomy, showing higher ioPTH baseline value and superior drop compared to benign disease. Copyright © 2017 IJS Publishing Group Ltd. Published by Elsevier Ltd. All rights reserved.

Pathology analysis for mesothelioma study in the United Kingdom: Current practice and historical development.

PubMed

Case, B W

2016-01-01

Following up on the largest case-control study of malignant mesothelioma yet performed, investigators at the London School of Hygiene and Tropical Medicine assessed 1732 male and 670 female cases as of May 2013. Epidemiological findings of a subset of these were published previously, excluding patients who died or who refused to be interviewed. Pathology reports were collected for subjects, including those both eligible and ineligible for epidemiology study based on vital status. The current investigation examined 860 cases having pathology reports available. Sixty-one cases were diagnosed using cytology only, often with equivocal diagnoses, while 799 reported at least a biopsy of the tumor. Of these, 748 had pathology sufficiently detailed for evaluation. These reports were examined for basis of diagnosis, differences between study cases and ineligible cases, pathology characteristics, and immunohistochemical and other tests used. The most prominent subtype was epithelioid (64% of study cases but only 49% of ineligible cases). Biphasic subtype was present in 10% of study cases and 16% of those ineligible. Sarcomatoid subtype was present in 7% of study cases and 19% of ineligible cases, most of whom died. Twelve percent of study cases displayed no specified subtype, versus 7% of ineligible cases. Of recorded immunohistochemical stains specific for mesothelial cell origin, calretinin (95%) and CK 5/6 or CK5 alone (84%) were by far the most common. Calretinin and CK 5/6 or CK 5 alone were also most sensitive and positive in 92% of cases presenting with surgical pathology report. Ninety percent of cases had at least one immunohistochemical marker for possible lung carcinoma applied, with BER-Ep4 and TTF-1 the most frequent at 68% and CEA at 58%. TTF-1 and CEA were positive in 1% or less of cases. Patterns of use and positive and negative results for each of these as well as other immunohistochemical stains are presented and discussed, along with a brief historical description of their development and use. Possible effects of the pathologic analysis on the results of previously published and future epidemiological studies are discussed.

[Chronic ankle joint instability: in unrecognized distal rupture of the syndosmosis and malunion of the distal fibula].

PubMed

Michelitsch, C; Acklin, Y P; Stoffel, K; Bereiter, H

2014-04-01

It is often difficult in the acute phase to diagnose a lesion of the distal tibiofibular syndesmosis. If this lesion is overlooked, the patient will develop an incongruity of the upper ankle joint with a pathological external rotation of the talus. The risk of a possible premature arthritis is clearly increased. In this case study a distal rupture of the syndesmosis in a young patient was overlooked in the initial diagnostic work-up. A search of the relevant literature and a case report. In the case described the shortened fibula and chronic instability of the tibiofibular syndesmosis were repaired with a lengthening and derotational osteotomy and reconstruction using the gracilis muscle tendon. Through this method an exact reconstruction of the normal anatomy could be achieved. Posttraumatic misalignment in the ankle joint is associated with a high risk of secondary degenerative lesions. In cases with suspicion of a syndesmosis lesion, confirmation of the diagnosis is imperative so as to perform an anatomic repositioning and reconstruction of stability.

Aleutian Disease: An Emerging Disease in Free-Ranging Striped Skunks (Mephitis mephitis) From California.

PubMed

LaDouceur, E E B; Anderson, M; Ritchie, B W; Ciembor, P; Rimoldi, G; Piazza, M; Pesti, D; Clifford, D L; Giannitti, F

2015-11-01

Aleutian disease virus (ADV, Amdovirus, Parvoviridae) primarily infects farmed mustelids (mink and ferrets) but also other fur-bearing animals and humans. Three Aleutian disease (AD) cases have been described in captive striped skunks; however, little is known about the relevance of AD in free-ranging carnivores. This work describes the pathological findings and temporospatial distribution in 7 cases of AD in free-ranging striped skunks. All cases showed neurologic disease and were found in a 46-month period (2010-2013) within a localized geographical region in California. Lesions included multisystemic plasmacytic and lymphocytic inflammation (ie, interstitial nephritis, myocarditis, hepatitis, meningoencephalitis, pneumonia, and splenitis), glomerulonephritis, arteritis with or without fibrinoid necrosis in several organs (ie, kidney, heart, brain, and spleen), splenomegaly, ascites/hydrothorax, and/or encephalomalacia with cerebral microangiopathy. ADV infection was confirmed in all cases by specific polymerase chain reaction and/or in situ hybridization. The results suggest that AD is an emerging disease in free-ranging striped skunks in California. © The Author(s) 2014.

Intradural extramedullary capillary hemangioma of the cauda equina: Case report and literature review

PubMed Central

Liu, Jonathan J.; Lee, Darrin J.; Jin, Lee-Way; Kim, Kee D.

2015-01-01

Background: Capillary hemangiomas are benign vascular tumors that rarely occur in the neuraxis. When encountered in the spine, prompt diagnosis and complete resection is crucial. On rare instances, these lesions can acutely hemorrhage, leading to sudden neurological decline. To date, there are only 16 reported cases of intradural capillary hemangiomas in the cauda equina. Case Description: We report a case of an intradural extramedullary cauda equina capillary hemangioma that resulted in back pain and lower extremity motor deficit. Initial magnetic resonance (MR) imaging demonstrated a bilobular intradural L3-4 cauda equina lesion. The lesion was isointense on T1-weighted imaging, mildly hyperintense on T2-weighted images and avidly enhancing after gadolinium administration. Pathology confirmed the diagnosis of capillary hemangioma. Conclusion: Early diagnosis and treatment of this patient resulted in complete resection of the tumor and return of lower extremity motor function. Capillary hemangiomas should be considered in the differential diagnosis of cauda equina lesions. En bloc resection of these lesions is the mainstay of treatment. PMID:25949855

A rare case of recurrent ovarian cancer presenting as a round ligament metastasis.

PubMed

Togami, Shinichi; Kato, Tomoyasu; Oi, Takateru; Ishikawa, Mitsuya; Onda, Takashi; Ikeda, Shun-ichi; Kasamatsu, Takahiro

2011-11-07

We report a rare case of recurrent ovarian cancer presenting as a round ligament metastasis. A 44-year-old woman presented with a lower abdominal mass. Computed tomography showed a pelvic mass. Primary surgery was performed. A histopathological examination showed an ovarian serous adenocarcinoma of Stage IIIb. The patient received 6 cycles of paclitaxel and carboplatin. Almost 2 years after the initial operation, the patient noticed a left inguinal mass. Computed tomography showed a left inguinal mass, 18 mm in size. An excisional biopsy was performed and the tumor was found to originate in the left round ligament. A histopathological examination showed serous adenocarcinoma and there was no evidence of lymph node tissue. Recurrence of ovarian cancer in the round ligament is extremely rare. This unique case suggests, however, that the round ligament in rare cases may be a recurrence site for ovarian cancer, and that accurate differentiation including confirmation by diagnostic imaging and excisional biopsy, is necessary for a definitive pathological diagnosis.

Malignant sigmoidoduodenal fistula

PubMed Central

Shapey, I.M.; Mahmood, K.; Solkar, M.H.

2014-01-01

INTRODUCTION Duodenocolic fistula is a rare complication of malignant colonic disease especially when involving and originating from the sigmoid colon. We aim to discuss the unusual clinical presentation of this case as well as the investigation and management of duodenocolic fistulas. PRESENTATION OF CASE A 91 year old lady presented as an emergency to a general surgical service at a District General Hospital with diarrhoea, vomiting and weight loss. Computed Tomography (CT) reported a large ovarian cyst elevating the sigmoid colon into immediate proximity of the duodenum. Adenocarcinoma was confirmed on histology obtained by colonoscopy. A classic apple core lesion with fistulating tract from the sigmoid colon to the duodenum was synchronously demonstrated on barium enema. DISCUSSION Sigmoido-duodenal fistulae represent a complex manifestation of gastrointestinal pathologies. CONCLUSION Management options must be considered in the context of patient wishes, their co-morbidities, and predicted post-operative outcome. In most cases this is likely to represent a non-operative approach, however surgical resection may benefit selected cases on occasion. PMID:25460456

[A case of mediastinum actinomycosis by Aggregatibacter actinomycetemcomitans].

PubMed

Razafimanjato, N N M; Portela, A M; Radu, D M; Guiraudet, P; Destable, M D; Seguin, A; Martinod, E

2016-12-01

The actinomycosis is a suppurative infection due to an anaerobic and microaerophillic bacteria called actinomyces. Only few case reports are described for the mediastinal locations of this rare entity. We report a new case of inflammatory pseudotumor in the mediastinum due to Aggregatibacte actinomycetemcomitans revealed by hemoptysis. The mediastinoscopy procedure with biopsy was needed to confirm the definitive bacteriological diagnosis by a positive culture. During the postoperative course, a cutaneous fistula was found which had a favourable evolution after appropriate antibiotherapy. Through this case report, the authors insist upon the importance of considering the diagnosis of mediastinal actinomycosis when facing non-specfic mediastinal mass symptoms and also about the interest of systematic bacterioscopic examination and histopathologic examination on nodes' biopsies to avoid to be lost on pathology of mediastinal tumor or tuberculosis. In practise, we caution the non-expert during biopsies because of this lesion's invasive characteristic especially in the confined space of the mediastinum. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Primary Eosinophilic Granuloma of Adult Cervical Spine Presenting as a Radiculomyelopathy

PubMed Central

Bang, Woo-Seok; Cho, Dae-Chul; Sung, Joo-Kyung

2013-01-01

We report a case of 29-year-old man diagnosed as a primary eosinophilic granuloma (EG) lesion of the seventh cervical vertebra. He had paresthesia on both arms, and grasping weakness for 10 days. Cervical magnetic resonance image (MRI) showed an enhancing mass with ventral epidural bulging and cord compression on the seventh cervical vertebra. Additionally, we performed spine series MRI, bone scan and positive emission tomography for confirmation of other bone lesions. These studies showed no other pathological lesions. He underwent anterior cervical corpectomy of the seventh cervical vertebra and plate fixation with iliac bone graft. After surgical management, neurological symptoms were much improved. Histopathologic evaluation confirmed the diagnosis of EG. There was no evidence of tumor recurrence at 12 months postoperative cervical MRI follow-up. We reported symptomatic primary EG of cervical spine successfully treated with surgical resection. PMID:24044083

Analysis of microdissected neurons by 18O mass spectrometry reveals altered protein expression in Alzheimer's disease

PubMed Central

Hashimoto, Masakazu; Bogdanovic, Nenad; Nakagawa, Hiroyuki; Volkmann, Inga; Aoki, Mikio; Winblad, Bengt; Sakai, Jun; Tjernberg, Lars O

2012-01-01

Abstract It is evident that the symptoms of Alzheimer's disease (AD) are derived from severe neuronal damage, and especially pyramidal neurons in the hippocampus are affected pathologically. Here, we analysed the proteome of hippocampal neurons, isolated from post-mortem brains by laser capture microdissection. By using 18O labelling and mass spectrometry, the relative expression levels of 150 proteins in AD and controls were estimated. Many of the identified proteins are involved in transcription and nucleotide binding, glycolysis, heat-shock response, microtubule stabilization, axonal transport or inflammation. The proteins showing the most altered expression in AD were selected for immunohistochemical analysis. These analyses confirmed the altered expression levels, and showed in many AD cases a pathological pattern. For comparison, we also analysed hippocampal sections by Western blot. The expression levels found by this method showed poor correlation with the neuron-specific analysis. Hence, we conclude that cell-specific proteome analysis reveals differences in the proteome that cannot be detected by bulk analysis. PMID:21883897

Pathology consultation on urine compliance testing and drug abuse screening.

PubMed

Ward, Michael B; Hackenmueller, Sarah A; Strathmann, Frederick G

2014-11-01

Compliance testing in pain management requires a distinct approach compared with classic clinical toxicology testing. Differences in the patient populations and clinical expectations require modifications to established reporting cutoffs, assay performance expectations, and critical review of how best to apply the available testing methods. Although other approaches to testing are emerging, immunoassay screening followed by mass spectrometry confirmation remains the most common testing workflow for pain management compliance and drug abuse testing. A case-based approach was used to illustrate the complexities inherent to and uniqueness of pain management compliance testing for both clinicians and laboratories. A basic understanding of the inherent strengths and weaknesses of immunoassays and mass spectrometry provides the clinician a better understanding of how best to approach pain management compliance testing. Pain management compliance testing is a textbook example of an emerging field requiring open communication between physician and performing laboratory to fully optimize patient care. Copyright© by the American Society for Clinical Pathology.

Lung cancer diagnosis on ovary mass: a case report

PubMed Central

2013-01-01

Metastatic neoplasms to the ovary often cause diagnostic problems, in particular those large ovarian masses mimicking primary tumors. Most of these tumors arise from digestive system or breast, while 37-year-old woman diagnosed as right adnexal complex mass, with a subpleural nodule in the apical part of the left lower lobe, at preoperative chest computed tomography scan. The patient underwent total abdominal hysterectomy with right salpingo-oophorectomy (ovarian mass 220 × 200 mm), total omentectomy, left ovarian biopsy, peritoneal random biopsies, and peritoneal washings for cytology. Pathologic and immunohistochemical examination of ovarian specimen suggested morphology and expression of metastatic lung adenocarcinoma with an intense positivity for Thyroid Transcriptional Factor-1 (TTF-1) and Cytokeratin 7 (CK7) staining. Fine needle biopsy of the lung nodule found epithelioid like malignant cells, confirming the diagnosis of an ovarian metastasis from a primary lung cancer. This report focused on the clinical and pathologic diagnostic challenge of distinguishing secondary from primary ovarian neoplasms. Issues on useful immunohistochemical stains are also discussed. PMID:23663245

[Clinical and pathological features of Alport syndrome in children].

PubMed

Zhu, Chun-Hua; Huang, Song-Ming; Wu, Hong-Mei; Bao, Hua-Ying; Chen, Ying; Han, Yuan; Zhao, Fei; Zhang, Ai-Hua; Zhang, Wei-Zhen

2010-03-01

To study the clinical and pathological features of Alport syndrome in children. The clinical and histopathological data of 10 hospitalized children with Alport syndrome from February 2007 to February 2009 were retrospectively reviewed. There were 7 males and 3 females, with the age ranging from 2 years to 6 years and 7 months (mean 3 years and 2 months). Five of 10 cases had positive family history. X-linked dominant inheritance Alport syndrome was diagnosed in 8 cases, and autosomal recessive inheritance Alport syndrome in 2 cases. Recurrent gross hematuria was found in 5 cases, hematuria and proteinuria in 3 cases, massive proteinuria in 1 case, and nephritic syndrome in 1 case. Under the light microscope, 8 cases presented with mesangial proliferation glomerulonephritis, and 2 cases with focal segmental glomerulosclerosis. Immunofluorescence assay showed that all cases had IgM deposition in glomerulus. Only 1 case showed typical glomerular basement membrane (GBM) pathological changes. All cases showed abnormal alpha-chain distribution in renal collagen IV. The children with Alport syndrome have diverse clinical manifestations. Characteristic histopathological presentations could not be found under a light microscope, mesangial proliferation glomerulonephritis is the dominant pathological change, and IgM deposition in glomerulus is common. The GBM pathological change in children is not common. Immunofluorescence assay of alpha-chain in collagen IV is needed for the diagnosis of Alport syndrome.

[Pathological and biochemical studies of 30 Niigata autopsy cases related to Minamata disease].

PubMed

Eto, Komyo; Takahashi, Hitoshi; Kakita, Akiyoshi; Tokunaga, Hidehiro; Yasutake, Akira; Nakano, Atsuhiro; Sawada, Masumi; Kinjo, Yoshihide

2007-01-01

To reevaluate pathologically and biochemically 30 autopsy cases related to Minamata disease (MD) in Niigata Prefecture (NP) and compare the findings with those of autopsy cases related to MD in Kumamoto Prefecture (KP). Recently, a set of pathological materials of these 30 autopsy cases has been sent from the Brain Research Institute at the University of Niigata to the National Institute for Minamata Disease (NIMD). The materials from each autopsy case were reexamined at the NIMD. There were no postnatal and fetal cases of MD in the NP autopsy materials. The contents of total mercury (T-Hg), methylmercury (Me-Hg), inorganic mercury (I-Hg) and selenium were measured in the organs of cerebrum, cerebellum, liver and kidney. The contents of T-Hg, Me-Hg and I-Hg were much higher in two cases than in controls. The pathological findings leading to the diagnosis of MD in the NP cases were essentially the same as those in KP, including the peripheral nerve lesions. In the most severely affected case of MD in NP, formation of multiple vacuoles of various sizes was observed in the cerebellar cortex, which was never encountered in the KP cases. The KP lesions were similar to that observed in an acute case of Me-Hg-treated common marmoset studied in the NIMD. The pathological features were essentially the same between the adult cases of MD in NP and KP.

[Malignant mesothelioma in Emilia-Romagna: incidence and asbestos exposure].

PubMed

Mangone, Lucia; Romanelli, Antonio; Campari, Cinzia; Candela, Silvia

2002-01-01

This paper describes the activity, the sources of informations, methods and results of the "Emilia-Romagna Mesothelioma Registry" (ReM). The Registry started in 1996 and collects all cases of Malignant Mesothelioma (MM) occurring in Emilia-Romagna. 323 new cases (225 males and 98 females) have been detected during the period 1996-2001. Most cases (n = 286) concerned pleura. Other observed localizations were: peritoneum (n = 30), tunica vaginalis testis (n = 4) and pericardium (n = 3). Most of the cases were reported by the Institutes of Pathology and Occupational Health and by the Safety Services (respectively the 62% and the 18%). 87% of all the cases were histologically, 8% TC, 4% radiologically and only 1% clinically confirmed. The regional incidence rate (for 10(5) person-years, age standardized on the 1991 Italian population), has been estimated to be 1.98 in males and 0.88 in females. The highest rates were registered in Piacenza and Reggio Emilia province among men and Reggio Emilia and Ravenna province among women. 72% of cases have been classified as exposed to asbestos (64% occupationally and 8% as domestic/environmentally exposed).

Whole Slide Imaging Versus Microscopy for Primary Diagnosis in Surgical Pathology

PubMed Central

Mukhopadhyay, Sanjay; Feldman, Michael D.; Abels, Esther; Ashfaq, Raheela; Beltaifa, Senda; Cacciabeve, Nicolas G.; Cathro, Helen P.; Cheng, Liang; Cooper, Kumarasen; Dickey, Glenn E.; Gill, Ryan M.; Heaton, Robert P.; Kerstens, René; Lindberg, Guy M.; Malhotra, Reenu K.; Mandell, James W.; Manlucu, Ellen D.; Mills, Anne M.; Mills, Stacey E.; Moskaluk, Christopher A.; Nelis, Mischa; Patil, Deepa T.; Przybycin, Christopher G.; Reynolds, Jordan P.; Rubin, Brian P.; Saboorian, Mohammad H.; Salicru, Mauricio; Samols, Mark A.; Sturgis, Charles D.; Turner, Kevin O.; Wick, Mark R.; Yoon, Ji Y.; Zhao, Po

2018-01-01

Most prior studies of primary diagnosis in surgical pathology using whole slide imaging (WSI) versus microscopy have focused on specific organ systems or included relatively few cases. The objective of this study was to demonstrate that WSI is noninferior to microscopy for primary diagnosis in surgical pathology. A blinded randomized noninferiority study was conducted across the entire range of surgical pathology cases (biopsies and resections, including hematoxylin and eosin, immunohistochemistry, and special stains) from 4 institutions using the original sign-out diagnosis (baseline diagnosis) as the reference standard. Cases were scanned, converted to WSI and randomized. Sixteen pathologists interpreted cases by microscopy or WSI, followed by a wash-out period of ≥4 weeks, after which cases were read by the same observers using the other modality. Major discordances were identified by an adjudication panel, and the differences between major discordance rates for both microscopy (against the reference standard) and WSI (against the reference standard) were calculated. A total of 1992 cases were included, resulting in 15,925 reads. The major discordance rate with the reference standard diagnosis was 4.9% for WSI and 4.6% for microscopy. The difference between major discordance rates for microscopy and WSI was 0.4% (95% confidence interval, −0.30% to 1.01%). The difference in major discordance rates for WSI and microscopy was highest in endocrine pathology (1.8%), neoplastic kidney pathology (1.5%), urinary bladder pathology (1.3%), and gynecologic pathology (1.2%). Detailed analysis of these cases revealed no instances where interpretation by WSI was consistently inaccurate compared with microscopy for multiple observers. We conclude that WSI is noninferior to microscopy for primary diagnosis in surgical pathology, including biopsies and resections stained with hematoxylin and eosin, immunohistochemistry and special stains. This conclusion is valid across a wide variety of organ systems and specimen types. PMID:28961557

Skin thickening as unique pathologic sign of an inflammatory breast cancer: a case report and review of the literature.

PubMed

Ballesio, L; D'Ambrosio, I; Ravazzolo, N; Angeletti, M; Di Pastena, F; Tardioli, S; Lodise, P; Marini, M

2011-01-01

We report the case of a 42-year-old woman with inflammatory cancer of the right breast treated with neoadjuvant chemotherapy, surgery, additional chemotherapy, and consolidative radiotherapy (RT), that has metastatized to the chest wall and presented a resumption of disease on the contralateral breast. Magnetic Resonance (MR), performed after the second phase's fourth round of additional chemotherapy, showed a modest reduction of scar metastases on the right and a contralateral anomalous skin thickening with high signal intensity in T2 weighted images (WI) with multiple mass-like enhancements located in a wide area of the central region at the union of higher quadrants. These findings were suggestive for resumption of contralateral disease; the biopsy confirmed an inflammatory breast cancer (IBC) infiltrating lobular type with high mitotic rate. A retrospective evaluation of the previous MR exam, performed 5 months before, was conducted: on the left side only a modest skin thickening was found as an early sign. A careful review of the literature has confirmed that skin thickening, increased density and clinical signs of inflammation are the most common findings in inflammatory cancer. We report the case of a patient affected by IBC whose unique early sign of resumption on the contralateral breast was skin thickening.

[Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family].

PubMed

González-Pérez, Jesús; Izquierdo-Álvarez, Silvia; Fuertes-Rodrigo, Cristina; Monge-Galindo, Lorena; Peña-Segura, José Luis; López-Pisón, Francisco Javier

2016-04-01

The dynamic increase in the number of triplet repeats of cytosine-guanine-guanine (CGG) in the FMR1 gene mutation is responsible for three OMIM syndromes with a distinct clinical phenotype: Fragile X syndrome (FXS) and two pathologies in adult carriers of the premutation (55-200 CGG repeats): Primary ovarian insufficiency (FXPOI) and tremor-ataxia syndrome (FXTAS) associated with FXS. CGG mutation dynamics of the FMR1 gene were studied in DNA samples from peripheral blood from the index case and other relatives of first, second and third degree by TP-PCR, and the percentage methylation. Diagnosis of FXS was confirmed in three patients (21.4%), eight patients (57.1%) were confirmed in the premutation range transmitters, one male patient with full mutation/permutation mosaicism (7.1%) and two patients (14.3%) with normal study. Of the eight permutated patients, three had FXPOI and one male patient had FXTAS. Our study suggests the importance of making an early diagnosis of SXF in order to carry out a family study and genetic counselling, which allow the identification of new cases or premutated patients with FMR1 gene- associated syndromes (FXTAS, FXPOI). Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

Anomia-Pathological Verbal Dominance. Agnosic Behavior in Anomia: A Case of Pathological Verbal Dominance

ERIC Educational Resources Information Center

McGlannan, Frances, Ed.

1975-01-01

Summarized are three articles concerned with research on neurological aspects of learning disabilities entitled "Anomia-A Case of Pathological Verbal Dominance;""Brain--Right Hemisphere--Man's So Called 'Minor Hemisphere;""Neurology-A Special Neurological Examination of Children with Learning Disabilities". (DB)

Clinical rotation in pathology: description of a case based approach.

PubMed

Bezuidenhout, J; Wasserman, E; Mansvelt, E; Meyer, C; van Zyl, G; Orth, H; Els, A

2006-04-01

The implementation of a system based, integrated curriculum at the Faculty of Health Sciences of Stellenbosch University, Western Cape, South Africa, resulted in less contact time for the pathology disciplines during theoretical modules, while a weekly rotation in pathology was introduced during clinical training in the fourth and fifth years. To describe a problem based approach for this rotation. Students are presented with a clinical "paper" case daily, integrating as many of the pathology disciplines as possible to demonstrate the interdependence of the various disciplines. They receive chemical pathology tutorials, visit the various laboratories, and receive practical training in fine needle aspiration biopsy. On the final day, the case studies are assessed and discussed. Most students appreciated all activities. This rotation enhanced student interactivity and autonomy and guaranteed immediate feedback. On evaluation of the rotation it was found that the students enjoyed the rotation, learnt something new, and realised the value of group work. This innovation integrates pathology with clinical practice and illustrates the use of laboratory medicine in the management of common diseases seen in this country. Students appreciate learning practical skills and having to request special investigations under a pathologist's supervision changes their approach to pathology requests. Familiarity with the pathology environment empowers the student to use pathology with greater ease. A bank of case studies that can be expanded to include all medical disciplines will facilitate the application of a problem based approach and enhance communication between the basic science disciplines and the clinical and pathology disciplines.

Magnetic resonance imaging and computed tomography characteristics of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion.

PubMed

Wang, Wei; Ding, Jianhui; Li, Yuan; Wang, Chaofu; Zhou, Liangping; Zhu, Hui; Peng, Weijun

2014-01-01

To characterize Xp11.2 translocation renal cell carcinoma (RCC) using magnetic resonance imaging (MRI) and computed tomography (CT). This study retrospectively collected the MRI and CT data of twelve patients with Xp11.2 translocation RCC confirmed by pathology. Nine cases underwent dynamic contrast-enhanced MRI (DCE-MRI) and 6 cases underwent CT, of which 3 cases underwent MRI and CT simultaneously. The MRI and CT findings were analyzed in regard to tumor position, size, hemorrhagic, cystic or necrotic components, calcification, tumor density, signal intensity and enhancement features. The age of the 12 patients ranged from 13 to 46 years (mean age: 23 years). T2WI revealed heterogeneous intensity, hyper-intensity, and slight hypo-intensity in 6 cases, 2 cases, and 1 case, respectively. On DCE-MR images, mild, moderate, and marked rim enhancement of the tumor in the corticomedullary phase (CMP) were observed in 1, 6, and 2 cases, respectively. The tumor parenchyma showed iso-attenuation (n = 4) or slight hyper-attenuation (n = 1) compared to the normal renal cortex on non-contrast CT images. Imaging findings were suggestive of hemorrhage (n = 4) or necrosis (n = 8) in the tumors, and there was evidence of calcification in 8 cases by CT (n = 3) and pathology (n = 8). On dynamic contrast-enhanced CT images, 3 cases and 1 case manifested moderate and strong CMP enhancement, respectively. Nine tumors by MRI and 4 tumors by CT showed prolonged enhancement. Three neoplasms presented at stage I, 2 at stage II, 3 at stage III, and 4 at stage IV according the 2010 AJCC staging criteria. XP11.2 translocation RCC should be considered when a child or young adult patient presents with a renal tumor with heterogeneous features such as hemorrhage, necrosis, cystic changes, and calcification on CT and MRI and/or is accompanied by metastatic evidence.

Magnetic Resonance Imaging and Computed Tomography Characteristics of Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion

PubMed Central

Li, Yuan; Wang, Chaofu; Zhou, Liangping; Zhu, Hui; Peng, Weijun

2014-01-01

Purpose To characterize Xp11.2 translocation renal cell carcinoma (RCC) using magnetic resonance imaging (MRI) and computed tomography (CT). Methods This study retrospectively collected the MRI and CT data of twelve patients with Xp11.2 translocation RCC confirmed by pathology. Nine cases underwent dynamic contrast-enhanced MRI (DCE-MRI) and 6 cases underwent CT, of which 3 cases underwent MRI and CT simultaneously. The MRI and CT findings were analyzed in regard to tumor position, size, hemorrhagic, cystic or necrotic components, calcification, tumor density, signal intensity and enhancement features. Results The age of the 12 patients ranged from 13 to 46 years (mean age: 23 years). T2WI revealed heterogeneous intensity, hyper-intensity, and slight hypo-intensity in 6 cases, 2 cases, and 1 case, respectively. On DCE-MR images, mild, moderate, and marked rim enhancement of the tumor in the corticomedullary phase (CMP) were observed in 1, 6, and 2 cases, respectively. The tumor parenchyma showed iso-attenuation (n = 4) or slight hyper-attenuation (n = 1) compared to the normal renal cortex on non-contrast CT images. Imaging findings were suggestive of hemorrhage (n = 4) or necrosis (n = 8) in the tumors, and there was evidence of calcification in 8 cases by CT (n = 3) and pathology (n = 8). On dynamic contrast-enhanced CT images, 3 cases and 1 case manifested moderate and strong CMP enhancement, respectively. Nine tumors by MRI and 4 tumors by CT showed prolonged enhancement. Three neoplasms presented at stage I, 2 at stage II, 3 at stage III, and 4 at stage IV according the 2010 AJCC staging criteria. Conclusions XP11.2 translocation RCC should be considered when a child or young adult patient presents with a renal tumor with heterogeneous features such as hemorrhage, necrosis, cystic changes, and calcification on CT and MRI and/or is accompanied by metastatic evidence. PMID:24926688

Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: Case report and literature review

PubMed Central

Ogaki, Kotaro; Koga, Shunsuke; Aoki, Naoya; Lin, Wenlang; Suzuki, Kinuko; Ross, Owen A.; Dickson, Dennis W.

2015-01-01

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder and is caused by ABCD1 mutations. A cerebello-brainstem dominant form that mainly involves the cerebellum and brainstem is summarized in a review of the literature, with autopsy confirmed cases exceedingly rare. We report a 69-year-old white man who was diagnosed with this rare disorder and describe neuropathologic, ultrastructural and genetic analyses. He did not have adrenal insufficiency or a family history of X-ALD or Addison’s disease. His initial symptom was temporary loss of eyesight at age 34 years. His major symptoms were chronic and progressive gait disorder, weakness in his lower extremities, and spasticity, as well as autonomic failure and cerebellar ataxia suggesting possible multiple system atrophy (MSA). He also had seizures, hearing loss, and sensory disturbances. His brain MRI showed no obvious atrophy or significant white matter pathology in cerebrum, brainstem or cerebellum. He died at age 69 years with a diagnosis of multiple system atrophy. Microscopic analysis showed mild, patchy myelin rarefaction with perivascular clusters of PAS-positive, CD68-positive macrophages in the white matter most prominent in the cerebellum and occipital lobe, but also affecting optic tract and internal capsule. Electron microscopy of cerebellar white matter showed cleft-like trilamellar cytoplasmic inclusions in macrophages typical of X-ALD, which prompted genetic analysis that revealed a novel ABCD1 mutation, p.R163G. Given the relatively mild pathological findings and long disease duration, it is likely that the observed pathology was the result of a slow and indolent disease process. We described a patient who had sporadic cerebello-brainstem dominant form of X-ALD with long clinical course, mild pathological findings, and an ABCD1 p.R163G substitution. We also review a total of 34 cases of adult-onset cerebello-brainstem dominant form of X-ALD. Although rare, X-ALD should be considered in the differential diagnosis of MSA. PMID:26227820

Early Experience after Developing a Pathology Laboratory in Malawi, with Emphasis on Cancer Diagnoses

PubMed Central

Horner, Marie-Josephe; Shores, Carol G.; Alide, Noor; Kamiza, Steve; Kampani, Coxcilly; Chimzimu, Fred; Fedoriw, Yuri; Dittmer, Dirk P.; Hosseinipour, Mina C.; Hoffman, Irving F.

2013-01-01

Background Despite increasing cancer burden in Malawi, pathology services are limited. We describe operations during the first 20 months of a new pathology laboratory in Lilongwe, with emphasis on cancer diagnoses. Methods and Findings We performed a cross-sectional study of specimens from the Kamuzu Central Hospital pathology laboratory between July 1, 2011 and February 28, 2013. Patient and specimen characteristics, and final diagnoses are summarized. Diagnoses were categorized as malignant, premalignant, infectious, other pathology, normal or benign, or nondiagnostic. Patient characteristics associated with premalignancy and malignancy were assessed using logistic regression. Of 2772 specimens, 2758 (99%) with a recorded final diagnosis were included, drawn from 2639 unique patients. Mean age was 38 years and 63% were female. Of those with documented HIV status, 51% had unknown status, and 36% with known status were infected. Histologic specimens comprised 91% of cases, and cytologic specimens 9%. Malignant diagnoses were most common overall (n = 861, 31%). Among cancers, cervical cancer was most common (n = 117, 14%), followed by lymphoma (n = 91, 11%), esophageal cancer (n = 86, 10%), sarcoma excluding Kaposi sarcoma (n = 75, 9%), and breast cancer (n = 61, 7%). HIV status was known for 95 (11%) of malignancies, with HIV prevalence ranging from 9% for breast cancer to 81% for cervical cancer. Increasing age was consistently associated with malignancy [bivariable odds ratio 1.24 per decade increase (95% CI 1.19–1.29) among 2685 patients with known age; multivariable odds ratio 1.33 per decade increase (95% CI 1.14–1.56) among 317 patients with known age, gender, and HIV status], while HIV infection and gender were not. Conclusions Despite selection and referral bias inherent in these data, a new pathology laboratory in Lilongwe has created a robust platform for cancer care and research. Strategies to effectively capture clinical information for pathologically confirmed cancers can allow these data to complement population-based registration. PMID:23950924

Exploring virtual reality technology and the Oculus Rift for the examination of digital pathology slides.

PubMed

Farahani, Navid; Post, Robert; Duboy, Jon; Ahmed, Ishtiaque; Kolowitz, Brian J; Krinchai, Teppituk; Monaco, Sara E; Fine, Jeffrey L; Hartman, Douglas J; Pantanowitz, Liron

2016-01-01

Digital slides obtained from whole slide imaging (WSI) platforms are typically viewed in two dimensions using desktop personal computer monitors or more recently on mobile devices. To the best of our knowledge, we are not aware of any studies viewing digital pathology slides in a virtual reality (VR) environment. VR technology enables users to be artificially immersed in and interact with a computer-simulated world. Oculus Rift is among the world's first consumer-targeted VR headsets, intended primarily for enhanced gaming. Our aim was to explore the use of the Oculus Rift for examining digital pathology slides in a VR environment. An Oculus Rift Development Kit 2 (DK2) was connected to a 64-bit computer running Virtual Desktop software. Glass slides from twenty randomly selected lymph node cases (ten with benign and ten malignant diagnoses) were digitized using a WSI scanner. Three pathologists reviewed these digital slides on a 27-inch 5K display and with the Oculus Rift after a 2-week washout period. Recorded endpoints included concordance of final diagnoses and time required to examine slides. The pathologists also rated their ease of navigation, image quality, and diagnostic confidence for both modalities. There was 90% diagnostic concordance when reviewing WSI using a 5K display and Oculus Rift. The time required to examine digital pathology slides on the 5K display averaged 39 s (range 10-120 s), compared to 62 s with the Oculus Rift (range 15-270 s). All pathologists confirmed that digital pathology slides were easily viewable in a VR environment. The ratings for image quality and diagnostic confidence were higher when using the 5K display. Using the Oculus Rift DK2 to view and navigate pathology whole slide images in a virtual environment is feasible for diagnostic purposes. However, image resolution using the Oculus Rift device was limited. Interactive VR technologies such as the Oculus Rift are novel tools that may be of use in digital pathology.

CT biliary cystoscopy of gallbladder polyps

PubMed Central

Lou, Ming-Wu; Hu, Wei-Dong; Fan, Yi; Chen, Jin-Hua; E, Zhan-Sen; Yang, Guang-Fu

2004-01-01

AIM: CT virtual endoscopy has been used in the study of various organs of body including the biliary tract, however, CT virtual endoseopy in diagnosis of gallbladder polyps has not yet been reported. This study was to evaluate the diagnostic value of CT virtual endoscopy in polyps of the gallbladder. METHODS: Thirty-two cases of gallbladder polyps were examined by CT virtual endoscopy, ultrasound, CT scan with oral biliary contrast separately and confirmed by operation and pathology. CT biliary cystoscopic findings were analyzed and compared with those of ultrasound and CT scan with oral biliary contrast, and evaluated in comparison with operative and pathologic findings in all cases. RESULTS: The detection rate of gallbladder polyps was 93.8%(90/96), 96.9%(93/96) and 79.2%(76/96) for CT cystoscopy, ultrasound and CT scan with oral contrast, respectively. CT biliary cystoscopy corresponded well with ultrasound as well as pathology in demonstrating the location, size and configuration of polyps. CT endoscopy was superior to ultrasound in viewing the polyps in a more precise way, 3 dimensionally from any angle in space, and showing the surface in details. CT biliary cystoscopy was also superior to CT scan with oral biliary contrast in terms of observation of the base of polyps for the presence of a pedicle, detection rates as well as image quality. The smallest polyp detected by CT biliary cystoscopy was measured 1.5 mm×2.2 mm×2.5 mm. CONCLUSION: CT biliary cystoscopy is a non-invasive and accurate technique for diagnosis and management of gallbladder polyps. PMID:15069726

Atypical ulcers: wound biopsy results from a university wound pathology service .

PubMed

Tang, Jennifer C; Vivas, Alejandra; Rey, Andrea; Kirsner, Robert S; Romanelli, Paolo

2012-06-01

Chronic wounds are an increasing health burden across the continuum of care and encountered by a wide variety of healthcare providers and physicians of all specialties. The majority of chronic wounds are caused by vascular insufficiency, neuropathy, or prolonged pressure. Wounds caused by other underlying health conditions or external factors such as radiation or spider bites are usually referred to as atypical. Although a wound biopsy generally is recommended in the case of refractory, nonhealing ulcers or when wounds present with atypical signs and symptoms, little is known about the distribution of atypical ulcers. A retrospective, descriptive study was conducted to describe the proportion and differential diagnosis of atypical ulcer biopsies received during a 2-year period by the wound pathology division in the division of Dermatopathology at the University of Miami Department of Dermatology and Cutaneous Surgery. Of the 350 wound biopsies received for diagnostic purposes, 104 (29.7%) were due to atypical causes. The majority of specimens were neoplasms (n = 24). Pyoderma gangrenosum was the most common atypical diagnosis encountered (n = 14). Vasculitis, predominantly leukocytoclastic vasculitis, and external causes were diagnosed in 16 and 15 biopsies, respectively. This study represents the first published case series of atypical ulcer biopsy results from a wound pathology division. Although the prevalence results cannot be generalized and are likely lower in the general population of patients with nonhealing wounds, the results confirm the usefulness of obtaining wound biopsies to provide a definitive diagnosis and to guide care.

Gingival involvement in oral paracoccidioidomycosis.

PubMed

Silva, Cléverson O; Almeida, Aroldo Dos Santos; Pereira, Alessandro Antônio Costa; Sallum, Antônio Wilson; Hanemann, João Adolfo Costa; Tatakis, Dimitris N

2007-07-01

Paracoccidioidomycosis, a deep mycosis endemic in parts of Latin America, often presents with oral lesions involving the gingiva. Nevertheless, the periodontal literature is devoid of references to oral paracoccidioidomycosis. The purpose of this study was to characterize the gingival involvement in oral paracoccidioidomycosis and to contrast clinical and histopathologic diagnosis of the disease. Differential diagnosis and management of oral paracoccidioidomycosis were reviewed. From January 1995 to October 2006, the files of the Oral Pathology Laboratory, School of Dentistry, Alfenas Federal University, were reviewed to identify cases referred because of a clinical diagnosis of oral paracoccidioidomycosis. Data collected included patient demographics (age, gender, race, and occupation), clinical information (oral lesion location), and histopathologic diagnosis. Forty-six cases were identified, and 34 were histopathologically confirmed as paracoccidioidomycosis. Of the remaining 12 cases, one-half were diagnosed as either carcinoma or dysplastic leukoplakia. Of the 34 confirmed paracoccidioidomycosis cases, 45% presented with multiple site involvement, whereas the gingiva/alveolar process was the most prevalent site overall (52%). The gingiva/alveolar process was the most prevalent site in both multiple and single site cases. The majority of patients were men (88%), white (75%), and in their fourth decade of life (47%). Statistical analysis revealed that patients with gingival/alveolar process involvement were demographically indistinguishable from those without. Oral paracoccidioidomycosis has a strong predilection for the gingiva, whereas patients with gingival lesions do not differ from patients lacking such involvement. Early diagnosis of gingival/oral lesions may prevent life-threatening complications of this mycosis.

Magnetic resonance and computed tomographic imaging in the evaluation of acute neuropsychiatric disease in systemic lupus erythematosus.

PubMed Central

Sibbitt, W L; Sibbitt, R R; Griffey, R H; Eckel, C; Bankhurst, A D

1989-01-01

Magnetic resonance (MR) imaging and computed tomography (CT) are useful for the evaluation of central nervous system (CNS) lupus. This report describes the use of cranial MR and CT in 21 patients with systemic lupus erythematosus (SLE) with acute neuropsychiatric symptoms manifested by headache, seizures, focal neurological deficits, psychosis, or organic brain syndrome. Computed tomography was found to be insensitive and detected only diffuse atrophy (two cases), cerebral infarct (one case), and intracerebral haemorrhage (one case) in the 21 patients. Cranial MR images obtained with a General Electric 1.5 tesla Signa unit detected labile and fixed areas of increased proton intensity interpreted as focal oedema (eight cases), infarct (10 cases), haemorrhage (one), atrophy (seven), and acute sinusitis (two). Focal oedema was characterised by labile, high intensity lesions in the gray or white matter of the cerebellum, cerebrum, or brain stem, which completely resolved after aggressive corticosteroid treatment. Most high intensity reversible or fixed lesions evident on MR were not apparent on cranial CT images. In several patients sequential MR images were valuable in monitoring the efforts of treatment. Although histological confirmation of the high intensity brain lesions apparent on MR is desirable, prior necropsy studies suggest that pathological confirmation may be difficult owing to the paucity of recognisable brain lesions in patients with CNS lupus. It is concluded that for the evaluation of acute neuropsychiatric SLE MR is useful and provides more information than cranial CT. Images PMID:2619353

Clinical and pathological analysis of IgA nephropathy with chronic renal failure.

PubMed

Liu, Yuyuan; Hu, Qinfeng; Shen, Ping; Tang, Li; Yuan, Gang; Zhou, Yongmei; Chai, Huaqi

2016-10-01

To investigative clinical and pathological characteristics of IgA nephropathy with chronic renal failure. Clinical and pathological findings from 65 cases of IgA nephropathy with chronic renal failure were reviewed. Pathological characteristics of all the cases were analyzed according to WHO definition and Oxford Classification. Evaluating the severity of pathological lesions by the Katafuchi R semiquantitative scoring system, and analyzing their relationship with clinical indexes of renal function. Of all 65 cases the male and female ratio was 1.4, and the mean age was 37 ± 13 years old. Levels of systolic pressure, mean arterial pressure (MAP), blood urea nitrogen (BUN), serum creatinine (Scr), uric acid (UA), album (Alb), serum IgG and 24 h urinary protein were related with eGRF level (p < 0.05, respectively). The most common pathological type was proliferative sclerosis glomerulonephritis (PSGN) and M1S1E0T0 according to WHO definition and Oxford Classification, respectively, and most of the 65 cases had glomerulosclerosis. Simple IgA deposition was the most common immunopathologic type. Of all the cases, 44.6% accompanied with C3 while 4.6% with C1q. Further analysis revealed there were no relationships between severity of pathological lesion and levels of clinical indexes (Scr and eGRF) (p > 0.05). IgA nephropathy with chronic renal failure usually occurred in young adults, and it had severe clinical condition and pathological changes, while there was no significant relationship between them.

Cost-benefit value of microscopic examination of intervertebral discs.

PubMed

Grzybicki, D M; Callaghan, E J; Raab, S S

1998-09-01

Given the virtual absence of histologically detected, clinically unsuspected disease in intervertebral disc specimens, some authors have advocated that histological examination be discontinued. However, the examination of intervertebral disc specimens remains common practice in most pathology laboratories. No cost-benefit analysis of this practice has been made; therefore, the authors' goal in this study was perform such an analysis. Using the University of Iowa surgical pathology database, 1109 patients who had undergone a laminectomy were identified retrospectively. These cases were classified into four categories based on the patients' preoperative clinical diagnosis and final histopathological diagnosis: insignificant clinical diagnosis/insignificant pathological diagnosis (ICIP), significant clinical diagnosis/insignificant pathological diagnosis (SCIP), significant clinical diagnosis/significant pathological diagnosis (SCSP), and insignificant clinical diagnosis/significant pathological diagnosis (ICSP). A significant clinical diagnosis was defined as one other than a benign, noninfectious indication for laminectomy. A significant pathological diagnosis was a diagnosis other than degenerative changes. The cost-benefit value of performing a histological examination in cases with significant or insignificant clinical diagnoses was examined. The cases were classified as: 1068 ICIP, 17 SCIP, 21 SCSP, and three ICSP. On chart review, in all three cases of ICSP an epidural abscess was identified perioperatively and the subsequent histological diagnosis did not affect patient care. The costs per case of identifying a significant pathological diagnosis with a significant and an insignificant clinical diagnosis were $44.79 and $8811, respectively. Histological examination of intervertebral disc specimens is cost beneficial only if there is a significant preoperative clinical diagnosis.

Evaluation of ALK Rearrangement in Chinese Non-Small Cell Lung Cancer Using FISH, Immunohistochemistry, and Real-Time Quantitative RT- PCR on Paraffin-Embedded Tissues

PubMed Central

Zhang, Yun-Gang; Jin, Mu-Lan; Li, Li; Zhao, Hong-Ying; Zeng, Xuan; Jiang, Lei; Wei, Ping; Diao, Xiao-Li; Li, Xue; Cao, Qing; Tian, Xin-Xia

2013-01-01

Patients with ALK gene rearrangements often manifest dramatic responses to crizotinib, an ALK inhibitor. Accurate identification of patients with ALK-positive non-small cell lung cancer (NSCLC) is essential for the clinical application of ALK-targeted therapy. However, assessing EML4-ALK rearrangement in NSCLC remains challenging in routine pathology practice. The aim of this study was to compare the diagnostic accuracy of FISH, immunohistochemistry (IHC), and real-time quantitative RT-PCR (QPCR) methodologies for detection of EML4-ALK rearrangement in NSCLC and to appraise immunohistochemistry as a pre-screening tool. In this study, a total of 473 paraffin-embedded NSCLC samples from surgical resections and biopsies were analyzed by IHC with ALK antibody. ALK rearrangement was further confirmed by FISH and QPCR. ALK protein expression was detected in twenty patients (20/473, 4.2%). Of the 20 ALK-positive cases by IHC, 15 cases were further confirmed as ALK rearrangement by FISH, and 5 cases were not interpretable. Also, we evaluated 13 out of the 20 IHC-positive tissues by QPCR in additional to FISH, and found that 9 cases were positive and 2 cases were equivocal, whereas 2 cases were negative although they were positive by both IHC and FISH. The ALK status was concordant in 5 out of 8 cases that were interpretable by three methods. Additionally, none of the 110 IHC-negative cases with adenocarcinoma histology showed ALK rearrangements by FISH. Histologically, almost all the ALK-rearranged cases were adenocarcinoma, except that one case was sarcomatoid carcinoma. A solid signet-ring cell pattern or mucinous cribriform pattern was presented at least focally in all ALK-positive tumors. In conclusion, our findings suggested that ALK rearrangement was associated with ALK protein expression. The conventional IHC assay is a valuable tool for the pre-screening of patients with ALK rearrangement in clinical practice and a combination of FISH and QPCR is required for further confirmation. PMID:23741400

Progressive aphasia secondary to Alzheimer disease pathology: A clinicopathologic and MRI study

PubMed Central

Josephs, Keith A.; Whitwell, Jennifer L.; Duffy, Joseph R.; Vanvoorst, Wendy A.; Strand, Edyth A.; Hu, William T.; Boeve, Bradley F.; Graff-Radford, Neill R.; Parisi, Joseph E.; Knopman, David S.; Dickson, Dennis W.; Jack, Clifford R.; Petersen, Ronald C.

2009-01-01

Background The pathology causing progressive aphasia is typically a variant of frontotemporal lobar degeneration, especially with ubiquitin-positive-inclusions (FTLD-U). Less commonly the underlying pathology is Alzheimer disease (AD). Objective To compare clinicopathological and MRI features of subjects with progressive aphasia and AD pathology, to subjects with aphasia and FTLD-U pathology, and subjects with typical AD. Methods We identified 5 subjects with aphasia and AD pathology and 5 with aphasia and FTLD-U pathology with an MRI from a total of 216 aphasia subjects. Ten subjects with typical AD clinical features and AD pathology were also identified. All subjects with AD pathology underwent pathological re-analysis with TDP-43 immunohistochemistry. Voxel-based morphometry (VBM) was used to assess patterns of grey matter atrophy in the aphasia cases with AD pathology, aphasia cases with FTLD-U, and typical AD cases with AD pathology, compared to a normal control group. Results All aphasic subjects had fluent speech output. However, those with AD pathology had better processing speed than those with FTLD-U pathology. Immunohistochemistry with TDP-43 antibodies was negative. VBM revealed grey matter atrophy predominantly in the temporoparietal cortices with notable sparing of the hippocampus in the aphasia with AD subjects. In comparison, the aphasic subjects with FTLD-U showed sparing of the parietal lobe. Typical AD subjects showed temporoparietal and hippocampal atrophy. Conclusions A temporoparietal pattern of atrophy on MRI in patients with progressive fluent aphasia and relatively preserved processing speed is suggestive of underlying AD pathology rather than FTLD-U. PMID:18166704

Use of molecular testing to identify a cluster of patients with polycythemia vera in eastern Pennsylvania.

PubMed

Seaman, Vincent; Jumaan, Aisha; Yanni, Emad; Lewis, Brian; Neyer, Jonathan; Roda, Paul; Xu, Mingjiang; Hoffman, Ronald

2009-02-01

The role of the environment in the origin of polycythemia vera has not been well documented. Recently, molecular diagnostic tools have been developed to facilitate the diagnosis of polycythemia vera. A cluster of patients with polycythemia vera was suspected in three countries in eastern Pennsylvania where there have long been a concern about environment hazards. Rigorous clinical criteria and JAK2 617V>F testing were used to confirm the diagnosis of polycythemia vera in patients in this area. Participants included cases of polycythemia vera from the 2001 to 2005 state cancer registry as well as self- and physician-referred cases. A diagnosis of polycythemia vera was confirmed in 53% of 62 participants using WHO criteria, which includes JAK2 617V>F testing. A statistically significant cluster of cases (P < 0.001) was identified where the incidence of polycythemia vera was 4.3 times that of the rest of the study area. The area of the cluster contained numerous sources of hazardous material including waste-coal power plants and U.S. Environmental Protection Agency Superfund sites. The diagnosis of polycythemia vera based solely on clinical criteria is frequently erroneous, suggesting that our prior knowledge of the epidemiology of this disease might be inaccurate. The JAK2 617V>F mutational analysis provides diagnostic clarity and permitted the confirmation of a cluster of polycythemia vera cases not identified by traditional clinical and pathologic diagnostic criteria. The close proximity of this cluster to known areas of hazardous material exposure raises concern that such environmental factors might play a role in the origin of polycythemia vera.

Automatic detection of mycobacterium tuberculosis using artificial intelligence

PubMed Central

Xiong, Yan; Ba, Xiaojun; Hou, Ao; Zhang, Kaiwen; Chen, Longsen

2018-01-01

Background Tuberculosis (TB) is a global issue that seriously endangers public health. Pathology is one of the most important means for diagnosing TB in clinical practice. To confirm TB as the diagnosis, finding specially stained TB bacilli under a microscope is critical. Because of the very small size and number of bacilli, it is a time-consuming and strenuous work even for experienced pathologists, and this strenuosity often leads to low detection rate and false diagnoses. We investigated the clinical efficacy of an artificial intelligence (AI)-assisted detection method for acid-fast stained TB bacillus. Methods We built a convolutional neural networks (CNN) model, named tuberculosis AI (TB-AI), specifically to recognize TB bacillus. The training set contains 45 samples, including 30 positive cases and 15 negative cases, where bacilli are labeled by human pathologists. Upon training the neural network model, 201 samples (108 positive cases and 93 negative cases) were collected as test set and used to examine TB-AI. We compared the diagnosis of TB-AI to the ground truth result provided by human pathologists, analyzed inconsistencies between AI and human, and adjusted the protocol accordingly. Trained TB-AI were run on the test data twice. Results Examined against the double confirmed diagnosis by pathologists both via microscopes and digital slides, TB-AI achieved 97.94% sensitivity and 83.65% specificity. Conclusions TB-AI can be a promising support system to detect stained TB bacilli and help make clinical decisions. It holds the potential to relieve the heavy workload of pathologists and decrease chances of missed diagnosis. Samples labeled as positive by TB-AI must be confirmed by pathologists, and those labeled as negative should be reviewed to make sure that the digital slides are qualified. PMID:29707349

Type 2 Diabetes in Relation to the Risk of Renal Cell Carcinoma Among Men and Women in Two Large Prospective Cohort Studies.

PubMed

Graff, Rebecca E; Sanchez, Alejandro; Tobias, Deirdre K; Rodríguez, Dayron; Barrisford, Glen W; Blute, Michael L; Li, Yanping; Sun, Qi; Preston, Mark A; Wilson, Kathryn M; Cho, Eunyoung

2018-04-20

We assessed whether type 2 diabetes is associated with renal cell carcinoma (RCC), independent of key potential confounders, in two large prospective cohorts with biennially updated covariate data. A total of 117,570 women from the Nurses' Health Study (NHS) and 48,866 men from the Health Professionals Follow-up Study (HPFS) were followed from 1976 and 1986, respectively, through 2014. Multivariable Cox proportional hazards models were used to calculate hazard ratios (HRs) and 95% CIs for associations between type 2 diabetes and pathology-confirmed RCC, overall and by stage, grade, and histological subtype. During 38 years of follow-up in the NHS, we confirmed 418 RCC cases, including 120 fatal cases. Over 28 years in the HPFS, we confirmed 302 RCC cases, including 87 fatal cases. Women with type 2 diabetes had a significantly increased risk of RCC compared with women without type 2 diabetes (multivariable HR 1.53; 95% CI 1.14-2.04), with some evidence that the association was stronger for ≤5 (HR 2.15; 95% CI 1.44-3.23) than >5 (HR 1.22; 95% CI 0.84-1.78) years' duration of type 2 diabetes ( P difference 0.03). Among men, type 2 diabetes was not associated with total RCC (HR 0.89; 95% CI 0.56-1.41) or with RCC defined by stage, grade, or subtype. Sample sizes for analyses by stage, grade, and subtype were limited. We found that type 2 diabetes was independently associated with a greater risk of RCC in women but not in men. © 2018 by the American Diabetes Association.

Automatic detection of mycobacterium tuberculosis using artificial intelligence.

PubMed

Xiong, Yan; Ba, Xiaojun; Hou, Ao; Zhang, Kaiwen; Chen, Longsen; Li, Ting

2018-03-01

Tuberculosis (TB) is a global issue that seriously endangers public health. Pathology is one of the most important means for diagnosing TB in clinical practice. To confirm TB as the diagnosis, finding specially stained TB bacilli under a microscope is critical. Because of the very small size and number of bacilli, it is a time-consuming and strenuous work even for experienced pathologists, and this strenuosity often leads to low detection rate and false diagnoses. We investigated the clinical efficacy of an artificial intelligence (AI)-assisted detection method for acid-fast stained TB bacillus. We built a convolutional neural networks (CNN) model, named tuberculosis AI (TB-AI), specifically to recognize TB bacillus. The training set contains 45 samples, including 30 positive cases and 15 negative cases, where bacilli are labeled by human pathologists. Upon training the neural network model, 201 samples (108 positive cases and 93 negative cases) were collected as test set and used to examine TB-AI. We compared the diagnosis of TB-AI to the ground truth result provided by human pathologists, analyzed inconsistencies between AI and human, and adjusted the protocol accordingly. Trained TB-AI were run on the test data twice. Examined against the double confirmed diagnosis by pathologists both via microscopes and digital slides, TB-AI achieved 97.94% sensitivity and 83.65% specificity. TB-AI can be a promising support system to detect stained TB bacilli and help make clinical decisions. It holds the potential to relieve the heavy workload of pathologists and decrease chances of missed diagnosis. Samples labeled as positive by TB-AI must be confirmed by pathologists, and those labeled as negative should be reviewed to make sure that the digital slides are qualified.

Arthroscopic findings of a diagnostic dilemma- hip pathology with normal imaging.

PubMed

Buikstra, Joel Glenn; Fary, Camdon; Tran, Phong

2017-03-21

Patients with groin, hip and pelvic pain but normal findings on MRI and minimal changes on x-ray can be a diagnostic problem. This paper looks at the arthroscopic findings of patients who have had hip pain and a positive response to an intra-articular anaesthetic but have non-contributory imaging. We hypothesized that standard MRI's were missing significant pathology and if there was a response to intra-articular local anaesthesia, pathology found during arthroscopy was likely. A retrospective review of all hip arthroscopies performed from March 2011 to January 2015 by two orthopaedic surgeons specializing in hip arthroscopy was conducted to identify patients with clinically suspected intra-articular hip pathology despite a normal MRI report and X-ray. Clinical suspicion of intra-articular hip pathology was confirmed with a positive response to a fluoroscopically guided intra-articular injection of local anaesthetic and corticosteroid. Pathologic findings were collated from the standardised operative notes. Fifty-three hip arthroscopies performed in 51 patients met the inclusion criteria from a total of 1348 hip arthroscopies performed over a 46-month period. All but one of the 53 (98%) hips had arthroscopically confirmed pathology. Mean patient age was 32.5 years [15 to 67 years] with 40 (78%) females and 11 (22%) males. 92.5% of the hips (49/53) were FADIR (flexion, adduction and internal rotation) positive on clinical examination, giving this test a positive predictive value of 98% (95% CI: 89.31 to 99.67%) for intra-articular pathology. In patients with a normal MRI without contrast and a positive response (relief of pain) to an intra-articular injection that failed conservative management, there is a 98% chance of intra-articular hip pathology being discovered on hip arthroscopy.

[Results of amnioinfusion in pregnancies with oligohydramnios and non-ruptured fetal membranes].

PubMed

Zamłyński, Jacek; Bodzek, Piotr; Olejek, Anita; Grettka, Krzysztof; Mańka, Grzegorz

2003-01-01

Authors analysed results of amnioinfusion in the group of 65 pregnant women with oligohydramnios and non-ruptured fetal membranes. Amnioinfusions were the most efficient in the pregnancies with oligohydramnios and asymmetric hypotrophy, idiopathic oligohydramnios or oligohydramnios with pathological FCG. The group with oligohydramnios and fetal malformations showed the worst results of the treatment. The findings confirm mainly the diagnostic character of the method before the end of 25 week of pregnancy because during period the oligohydramnios usually occurs together with lethal fetus malformations. The amnioinfusion in the cases of fetal hypotrophy and pregnancy-induced hypertension seems to be the prophylactic procedure.

[Giant cell tumor of the tendon sheath: characteristic findings of the bone scintigraphy and correlation with MRI].

PubMed

Mena, E; Martín-Miramon, J C; Bernà, L; Veintemillas, M; Marín, A; Valls, R; Melloni, P

2009-01-01

We report 3 cases of an unusual tumor, that is, the giant cell tumor of the tendon sheath. The patients consulted due to the appearance of a well-defined, painless, soft tissue mass with mild-to-moderate inflammation located in the thumbs or toes. These clinical data, together with the bone scan findings, oriented the diagnostic suspicion that was confirmed by a pathology study of the tumor after resection. This work has aimed to review the characteristics of the bone scan (BS) image of this tumor and its correlation with the conventional X-ray imaging and magnetic resonance imaging (MRI).

Mesorectum localization as a special kind of rectal metastasis from breast cancer.

PubMed

Xue, Fan; Liu, Zhong-Lin; Zhang, Qing; Kong, Xiang-Nan; Liu, Wen-Zhi

2015-04-14

Breast cancer can metastasize to other organs following initial treatment. Bones, liver, and the lung are the most common sites of breast cancer metastases. The digestive tract, on the other hand, is rarely involved. The incidence of mesorectal metastasis (a special category of rectal metastases) from breast cancer has not been described before. The case reported herein concerns a 68-year-old woman who underwent mastectomy. A pelvic mass with no symptoms was subsequently identified by computed tomography in the patient. We ultimately confirmed that this mass was a metastasis from breast cancer located in the mesorectum using surgical exploration and pathology results.

Nuclear Protein in Testis Carcinoma of the Thorax.

PubMed

Maruyama, Naomi; Hikiishi, Atsuhito; Suginaka, Miho; Furukawa, Koichi; Ogawa, Koichi; Nakamura, Naoki; Yoshida, Yae; Takata, Munetake; Nishijima, Masayoshi; Otani, Kenichiro; Kamimori, Takao; Fujiwara, Hiroshi; Yoshimatsu, Yuki; Ueda, Kayo

2018-06-06

Nuclear protein in testis (NUT) carcinoma (NUT-C) is an exceedingly rare and aggressive neoplasm. We herein report a case of a 57-year-old man with a rapidly progressing tumor of the thorax and left pleural effusion. The pathological features and immunohistochemical staining of specimens obtained by a transbronchial lung biopsy initially indicated poorly differentiated squamous cell carcinoma. However, given the clinical presentation along with the additional histopathologic features, NUT-C was considered. Immunohistochemical staining for NUT was positive in the pleural fluid cell block, confirming the diagnosis of NUT-C. This report indicates the utility of immunohistochemical staining for diagnosing NUT in the pleural fluid cell block.

Mammographic density and risk of breast cancer according to tumor characteristics and mode of detection: a Spanish population-based case-control study

PubMed Central

2013-01-01

Introduction It is not clear whether high mammographic density (MD) is equally associated with all subtypes of breast cancer (BC). We investigated the association between MD and subsequent BC, considering invasiveness, means of detection, pathologic subtype, and the time elapsed since mammographic exploration and BC diagnosis. Methods BC cases occurring in the population of women who attended screening from 1997 through 2004 in Navarre, a Spanish region with a fully consolidated screening program, were identified via record linkage with the Navarre Cancer Registry (n = 1,172). Information was extracted from the records of their first attendance at screening in that period. For each case, we randomly selected four controls, matched by screening round, year of birth, and place of residence. Cases were classified according to invasiveness (ductal carcinoma in situ (DCIS) versus invasive tumors), pathologic subtype (considering hormonal receptors and HER2), and type of diagnosis (screen-detected versus interval cases). MD was evaluated by a single, experienced radiologist by using a semiquantitative scale. Data on BC risk factors were obtained by the screening program in the corresponding round. The association between MD and tumor subtype was assessed by using conditional logistic regression. Results MD was clearly associated with subsequent BC. The odds ratio (OR) for the highest MD category (MD >75%) compared with the reference category (MD <10%) was similar for DCIS (OR = 3.47; 95% CI = 1.46 to 8.27) and invasive tumors (OR = 2.95; 95% CI = 2.01 to 4.35). The excess risk was particularly high for interval cases (OR = 7.72; 95% CI = 4.02 to 14.81) in comparison with screened detected tumors (OR = 2.17; 95% CI = 1.40 to 3.36). Sensitivity analyses excluding interval cases diagnosed in the first year after MD assessment or immediately after an early recall to screening yielded similar results. No differences were seen regarding pathologic subtypes. The excess risk associated with MD persisted for at least 7 to 8 years after mammographic exploration. Conclusions Our results confirm that MD is an important risk factor for all types of breast cancer. High breast density strongly increases the risk of developing an interval tumor, and this excess risk is not completely explained by a possible masking effect. PMID:23360535

Analysis of polymorphic patterns in candidate genes in Israeli patients with prostate cancer.

PubMed

Figer, Arie; Friedman, Tal; Manguoglu, Ayse Esra; Flex, Dov; Vazina, Amnon; Novikov, Ilia; Shtrieker, Avi; Sidi, A Ami; Tichler, Thomas; Sapir, Einat Even; Baniel, Jack; Friedman, Eitan

2003-10-01

The precise genes involved in conferring prostate cancer risk in sporadic and familial cases are not fully known. To evaluate the genetic profile within several candidate genes of unselected prostate cancer cases and to correlate this profile with disease parameters. Jewish Israeli prostate cancer patients (n = 224) were genotyped for polymorphisms within candidate genes: p53, ER, VDR, GSTT1, CYP1A1, GSTP1, GSTM1, EPHX and HPC2/ELAC2, followed by analysis of the genotype with relevant clinical and pathologic parameters. The EPHX gene His113 allele was detected in 21.4% (33/154) of patients in whom disease was diagnosed above 61 years, compared with 5.7% (4/70) in earlier onset disease (P < 0.001). Within the group of late-onset disease, the same allele was noted in 5.5% (2/36) with grade I tumors compared with 18% (34/188) with grade II and up (P = 0.004). All other tested polymorphisms were not associated with a distinct clinical or pathologic feature in a statistically significant manner. In Israeli prostate cancer patients, the EPHX His113 allele is seemingly associated with a more advanced, late-onset disease. These preliminary data need to be confirmed by a larger and more ethnically diverse study.

Correlation between Gd-EOB-DTPA-enhanced MR imaging findings and OATP1B3 expression in chemotherapy-associated sinusoidal obstruction syndrome.

PubMed

Yoneda, Norihide; Matsui, Osamu; Ikeno, Hiroshi; Inoue, Dai; Yoshida, Kotaro; Kitao, Azusa; Kozaka, Kazuto; Kobayashi, Satoshi; Gabata, Toshifumi; Ikeda, Hiroko; Nakamura, Keishi; Ohta, Tetsuo

2015-10-01

We report a female case of sinusoidal obstruction syndrome (SOS) diagnosed pathologically after chemotherapy (Pmab+m-FOLFOX6) for ascending colon cancer with multiple liver metastases, focusing on the findings of gadoxetic acid-enhanced MRI (EOB-MRI) and the organic anion transporting polypeptide 1B3 (OATP1B3) expression of in the liver. The patient was a 75-year-old female. She had received chemotherapy (Pmab+m-FOLFOX6) as six cycles for preoperative chemotherapy. After the preoperative chemotherapy, tumor sizes of hepatic metastases were reduced and hepatobiliary phase of EOB-MRI clearly depicted diffuse reticular hypointensity in the background liver. On the other hand, dynamic CT and/or other sequences of EOB-MRI did not show definite abnormality in the background liver. After the operation, this patient was pathologically confirmed as SOS demonstrating centrilobular congestion, sinusoidal dilatation, and perisinusoidal fibrosis. In normal liver parenchyma, OATP1B3 (uptake transporter of the EOB-MRI) expression is observed predominantly in centrilobular hepatocytes (zone 3). On the other hand, OATP1B3 expression was remarkably reduced because of the damages in the centrilobular (zone 3) hepatocytes in this SOS case. This indicated that EOB-MRI might be extremely sensitive in diagnosing SOS in its early stage.

Giant geode at the olecranon in the rheumatoid elbow--two case reports.

PubMed

Nakagawa, Natsuko; Abe, Shuji; Saegusa, Yasuhiro; Kimura, Hiroshi; Imura, Shigeaki; Nishibayashi, Yasuro; Yoshiya, Sinichi

2004-08-01

A single giant geode at the olecranon in a patient with rheumatoid arthritis (RA) is relatively rare, and may cause diagnostic difficulties or cause a spontaneous pathological fracture owing to weakness of the cortical bone associated with osteoporosis. We report two cases of patients presenting with single giant geodes at the olecranon. In one case we performed an open reduction and internal fixation with bone grafting for a pathological fracture due to the geode. In the other case we performed curettage of the geode with bone grafting to prevent a pathological fracture, and a synovectomy of the elbow. We suggest that the presence of a giant geode at the olecranon may necessitate surgical intervention to prevent the occurrence of a spontaneous pathological fracture.

Histomorphology and innate immunity during the progression of osteoarthritis: Does synovitis affect cartilage degradation?

PubMed

Wang, Huan; Wang, Qingguo; Yang, Meijuan; Yang, Lili; Wang, Weili; Ding, Haobin; Zhang, Dong; Xu, Jing; Tang, Xuezhang; Ding, Haitao; Wang, Qingfu

2018-02-01

Osteoarthritis (OA) is a common chronic degenerative disease that affects all joints. At present, the pathological processes and mechanisms of OA are still unclear. Innate immunity, a key player in damage to the structure of the joint and the mechanism by which the host attempts to repair OA, affects all pathological stages of the disease. In the present study, our aim was to assess changes in innate immunity during the pathological processes of OA in articular cartilage (AC) and the synovial membrane (SM), which are the major structures in joints, and to systematically examine the histological changes in AC and SM in mild, moderate and severe cases of OA, in order to further speculate about the manner in which the interactions of AC and SM are facilitated by innate immunity. Histological methods (including HE and Safranin O-fast green staining), immunofluorescent double staining, TUNEL stain, and Western blots were used to assess the morphological changes within AC and SM tissues in healthy and mild, moderate, or severe OA rats. Our results showed that the damage to AC and SM within the joints progressively worsened in different degrees during the course of the disease, and that the innate immune system was closely involved in the AC and SM during each stage of OA. These findings also confirmed that SM may affect the pathological changes in AC through the innate immune system, and therefore affect the progress of OA. © 2017 Wiley Periodicals, Inc.

Neuropathological Assessment as an Endpoint in Clinical Trial Design.

PubMed

Gentleman, Steve; Liu, Alan King Lun

2018-01-01

Different neurodegenerative conditions can have complex, overlapping clinical presentations that make accurate diagnosis during life very challenging. For this reason, confirmation of the clinical diagnosis still requires postmortem verification. This is particularly relevant for clinical trials of novel therapeutics where it is important to ascertain what disease and/or pathology modifying effects the therapeutics have had. Furthermore, it is important to confirm that patients in the trial actually had the correct clinical diagnosis as this will have a major bearing on the interpretation of trial results. Here we present a simple protocol for pathological assessment of neurodegenerative changes.

Fine needle aspiration cytology of granulomatous mastitis with special emphasis on microbiologic correlation.

PubMed

Nemenqani, Dalal; Yaqoob, Nausheen; Hafiz, Momein

2009-01-01

To describe the cytomorphology of granulomatous mastitis (GM) and to evaluate the causative agents involved, proven on the basis of microbiologic culture results and polymerase chain reaction (PCR) studies. We retrospectively reviewed the inflammatory breast aspirates reported at King Abdul Aziz Specialist Hospital and Al Hada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia, from January 2000 until March 2008. The pathology reports, clinical information, slides, microbiologic culture results and tuberculosis (TB)/PCR were reviewed. Cases of inflammatory carcinoma or duct ectasia were excluded. A total of 49 cases of inflammatory breast aspirates were identified, of which 15 cases were GM. The microbiologic cultures of all 15 cases were available. Six of 15 cases had positive culture for Brucella melitenses, and 2 cases were positive for TB, which was further confirmed by TB/PCR. The fungal cultures were negative in all the cases. Seven of 15 cases were classified as idiopathic GM. Fine needle aspiration cytology was found to be a useful tool in the early diagnosis of GM and its classification if performed by a pathologist as the material can be submitted for culture. The definitive diagnosis can be established by a combination of the cytomorphologic features and microbiologic studies.

[18F]FDDNP PET in Tauopathies: Correlation to post mortem Pathology in a Case of Progressive Supranuclear Palsy (PSP)

NASA Astrophysics Data System (ADS)

Villegas, Brendon Josef

This investigation of [18F]FDDNP was conducted in an effort to confirm the presence of disease in a patient with Progressive Supranuclear Palsy (PSP) and to correlate the ante mortem PET scan results to the post mortem pathology. The immunohistochemical and immunofluorescent staining of Paired Helical Filamentous (PHF) tau (AT8) and Amyloid Beta (6F/3D) misfolded proteins demonstrated a widespread deposition in the cortical and subcortical nuclei, the white matter, cerebellar white matter and the medulla oblongata. The in vitro autoradiography demonstrated a neocortical signal comprised of well-delineated amyloid beta in the nucleated layers I/II and hyperphosphorylated tau in the deeper layers III through VI. The autoradiography was well correlated with the immunohistochemical staining in adjacent tissue slides. The binding of the parametric [ 18F]FDDNP distribution volume ratio (DVR) correlated well (Spearman's rho = 0.962, p = .004) with the deposition of tau but not with the presence of amyloid beta (Spearman's rho = -0.829, p = .041). The [ 18F]FDDNP DVR signal appears to be primarily due to the large amount of bound hyperphosphorylated tau (p-tau) and the amyloid beta negligibly contributes to the total signal. Unlabeled FDDNP was shown to bind to tau in the form of globose tangles in the rostral ventromedial medulla as confirmed with both Thioflavin S and PHF-tau Immunofluorescence. The binding of [18F]FDDNP to the human neuroanatomy was investigated in two cohorts of distinct tauopathies and compared to the binding in two tau-negative cohorts against control patients. A cohort of PSP patients (n = 12) with a mean age of 63.8 years and a cohort of Chronic Traumatic Encephalopathy (CTE) patients (n = 14) with a mean age of 58.1 years are both characterized by the presence of various degrees of tau pathology in their brains. The cohort of Parkinson's Disease (PD) patients (n = 16) with a mean age of 63.2 years is initially characterized by clinical symptoms similar to PSP [18F]FDDNP is able to differentiate between PD and PSP with statistical significance (p < .05) in the striatum; particularly within the caudate nucleus. The Huntington's Disease (HD) patients (n = 15) with a mean age of 36.8 years display motor degeneration from a loss of striatal medium spiny neurons with no presence of amyloid beta or p-tau. It has further been demonstrated with statistical certainty that CTE is discernible from control patients in the amygdala, the midbrain, the caudate nucleus and the anterior cingulate gyrus (p < .05). On the other hand, the HD and PD cohort were both found to have decreased binding of [18F]FDDNP binding in caudate nucleus when compared to all the control patients (p < .05). In the tauopathy cases studied, [18F]FDDNP has successfully demonstrated its differential capability to discriminate between PSP, CTE and PD. The [18F]FDDNP DVR signal in the cases of PSP and CTE closely correlated with hyperphosphorylated tau deposition, as confirmed by the post mortem autopsy of a case with PSP.

Ultrasonography of uterine leiomyomas

PubMed Central

Woźniak, Andrzej

2017-01-01

Uterine leiomyomas or uterine fibroids are the most common gynaecological tumours and occur in about 20-50% of women around the world. Ultrasonography (USG) is the first-line imaging examination in suspected fibroids and shows high sensitivity and specificity in diagnosing this condition. Ultrasound scans can be performed transvaginally (transvaginal scan – TVS) or transabdominally (transabdominal scan – TAS); both scans have advantages and limitations, but, in general, transvaginal sonography is superior to transabdominal sonography in most cases of pelvic pathology. Whether a leiomyoma is symptomatic or not depends primarily on its size and location. During ultrasound examination, leiomyomas usually appear as well-defined, solid, concentric, hypoechoic masses that cause a variable amount of acoustic shadowing. During the examination of leiomyomas differential diagnosis is important. Some of the most common misdiagnosed pathologies are adenomyosis, solid tumours of adnexa, and endometrial polyps. Misdiagnosis of a leiomyosarcoma has the most negative consequences, presenting symptoms are very similar to benign leiomyoma, and there is no pelvic imaging technique that can reliably differentiate between those pathologies. Magnetic resonance and computer tomography might be helpful in the diagnostics of uterine leiomyoma; however, ultrasound examination is the basic imaging test confirming the existence of leiomyomas, allowing the differentiation of myomas with adenomyosis, endometrial polyps, ovarian tumours, and pregnant uterus. PMID:29483851

Cost-effectiveness of hysteroscopy screening for infertile women.

PubMed

Kasius, Jenneke C; Eijkemans, René J C; Mol, Ben W J; Fauser, Bart C J M; Fatemi, Human M; Broekmans, Frank J M

2013-06-01

This study assessed the cost-effectiveness of office hysteroscopy screening prior to IVF. Therefore, the cost-effectiveness of two distinct strategies - hysteroscopy after two failed IVF cycles (Failedhyst) and routine hysteroscopy prior to IVF (Routinehyst) - was compared with the reference strategy of no hysteroscopy (Nohyst). When present, intrauterine pathology was treated during hysteroscopy. Two models were constructed and evaluated in a decision analysis. In model I, all patients had an increase in pregnancy rate after screening hysteroscopy prior to IVF; in model II, only patients with intrauterine pathology would benefit. For each strategy, the total costs and live birth rates after a total of three IVF cycles were assessed. For model I (all patients benefit from hysteroscopy), Routinehyst was always cost-effective compared with Nohyst or Failedhyst. For the Routinehyst strategy, a monetary profit would be obtained in the case where hysteroscopy would increase the live birth rate after IVF by ≥ 2.8%. In model II (only patients with pathology benefit from hysteroscopy), Routinehyst also dominated Failedhyst. However, hysteroscopy performance resulted in considerable costs. In conclusion, the application of a routine hysteroscopy prior to IVF could be cost-effective. However, randomized trials confirming the effectiveness of hysteroscopy are needed. Copyright © 2013 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

MR imaging of the hippocampus in normal pressure hydrocephalus: correlations with cortical Alzheimer's disease confirmed by pathologic analysis.

PubMed

Savolainen, S; Laakso, M P; Paljärvi, L; Alafuzoff, I; Hurskainen, H; Partanen, K; Soininen, H; Vapalahti, M

2000-02-01

MR studies have shown hippocampal atrophy to be a sensitive diagnostic feature of Alzheimer's disease (AD). In this study, we measured the hippocampal volumes of patients with a clinical diagnosis of normal pressure hydrocephalus (NPH), a potentially reversible cause of dementia when shunted. Further, we examined the relationship between the hippocampal volumes and cortical AD pathologic findings, intracranial pressure, and clinical outcomes in cases of NPH. We measured hippocampal volumes from 37 patients with a clinical diagnosis of NPH (27 control volunteers and 24 patients with AD). The patients with NPH underwent biopsy, and their clinical outcomes were followed for a year. Compared with those for control volunteers, the findings for patients with NPH included a minor left-side decrease in the hippocampal volumes (P < .05). Compared with those for patients with AD, the findings for patients with NPH included significantly larger hippocampi on both sides. Although not statistically significant, trends toward larger volumes were observed in patients with NPH who had elevated intracranial pressure, who benefited from shunting, and who did not display cortical AD pathologic findings. Measurements of hippocampal volumes among patients with a clinical diagnosis of NPH have clear clinical implications, providing diagnostic discrimination from AD and possibly prediction of clinical outcome after shunting.

Biochemical typing of pathological prion protein in aging cattle with BSE

PubMed Central

Tester, Seraina; Juillerat, Valerie; Doherr, Marcus G; Haase, Bianca; Polak, Miroslaw; Ehrensperger, Felix; Leeb, Tosso; Zurbriggen, Andreas; Seuberlich, Torsten

2009-01-01

Background The broad enforcement of active surveillance for bovine spongiform encephalopathy (BSE) in 2000 led to the discovery of previously unnoticed, atypical BSE phenotypes in aged cattle that differed from classical BSE (C-type) in biochemical properties of the pathological prion protein. Depending on the molecular mass and the degree of glycosylation of its proteinase K resistant core fragment (PrPres), mainly determined in samples derived from the medulla oblongata, these atypical cases are currently classified into low (L)-type or high (H)-type BSE. In the present study we address the question to what extent such atypical BSE cases are part of the BSE epidemic in Switzerland. Results To this end we analyzed the biochemical PrPres type by Western blot in a total of 33 BSE cases in cattle with a minimum age of eight years, targeting up to ten different brain regions. Our work confirmed H-type BSE in a zebu but classified all other cases as C-type BSE; indicating a very low incidence of H- and L-type BSE in Switzerland. It was documented for the first time that the biochemical PrPres type was consistent across different brain regions of aging animals with C-type and H-type BSE, i.e. independent of the neuroanatomical structure investigated. Conclusion Taken together this study provides further characteristics of the BSE epidemic in Switzerland and generates new baseline data for the definition of C- and H-type BSE phenotypes, thereby underpinning the notion that they indeed represent distinct prion disease entities. PMID:19470160

[Rapidly progressive pulmonary malignant perivascular epithelioid cell tumor: a case report and literature review].

PubMed

Shi, X Y; Long, F; Liang, B; Su, L L; Li, H C; Jiang, S J

2016-10-12

Objective: To analyze the pathogenesis, clinical features, diagnosis and differential diagnosis of primary perivascular epithelioid cell tumor(PEComa). Methods: The clinical features, auxiliary examinations and diagnosis of a case with rapidly progressive pulmonary malignant PEComa were reported and the related literatures were reviewed.The literature review was carried out respectively in Wanfang Data, CNKI and PubMed from Jan. 1975 to Jul. 2015 with "pulmonary malignant perivascular epithelioid cell tumor" and "PEComa" being the search terms. Results: A 50 year-old female patient was admitted to the hospital on September 4, 2014 because of cough and dyspnea for 60 days, hemoptysis for 40 days and fever for 7 days.Chest CT scan showed diffuse small nodules with infiltrative border and multiple pure and mixed ground-glass opacity. Transbronchial lung biopsy (TBLB) was performed and the pathological study confirmed the diagnosis of primary pulmonary malignant PEComa. The patient declined further specific therapy, but followed by rapidly progressive respiratory failure, and died two weeks after the diagnosis. A total of 8 literatures were retrieved from Wanfang Data, CNKI and PubMed and all of them were case reports.There were 3 male and 5 female patients, aging from 50 to 79 years.Radiographically, the previously reported cases presented as round and well-circumscribed masses with or without multiple nodules in both lungs. The symptoms had no specificity. Conclusions: Pulmonary malignant PEComa is a rare disease.It is easily misdiagnosed because of non-specific clinical and imaging manifestations.The final diagnosis depends on pathological biopsy.TBLB is an effective diagnostic method.

Bovine spongiform encephalopathy: the effect of oral exposure dose on attack rate and incubation period in cattle - an update.

PubMed

Konold, Timm; Arnold, Mark E; Austin, Anthony R; Cawthraw, Saira; Hawkins, Steve A C; Stack, Michael J; Simmons, Marion M; Sayers, A Robin; Dawson, Michael; Wilesmith, John W; Wells, Gerald A H

2012-12-05

To provide information on dose-response and aid in modelling the exposure dynamics of the BSE epidemic in the United Kingdom groups of cattle were exposed orally to a range of different doses of brainstem homogenate of known infectious titre from clinical cases of classical bovine spongiform encephalopathy (BSE). Interim data from this study was published in 2007. This communication documents additional BSE cases, which occurred subsequently, examines possible influence of the bovine prion protein gene on disease incidence and revises estimates of effective oral exposure. Following interim published results, two further cattle, one dosed with 100 mg and culled at 127 months post exposure and the other dosed with 10 mg and culled at 110 months post exposure, developed BSE. Both had a similar pathological phenotype to previous cases. Based on attack rate and incubation period distribution according to dose, the dose estimate at which 50% of confirmed cases would be clinically affected was revised to 0.15 g of the brain homogenate used in the experiment, with a 95% confidence interval of 0.03-0.79 g. Neither the full open reading frame nor the promoter region of the prion protein gene of dosed cattle appeared to influence susceptibility to BSE, but this may be due to the sample size. Oral exposure of cattle to a large range of doses of a BSE brainstem homogenate produced disease in all dose groups. The pathological presentation resembled natural disease. The attack rate and incubation period were dependent on the dose.

Prostate carcinoma mimicking a sphenoid wing meningioma.

PubMed

Bradley, Lucas H; Burton, Matthew; Gokden, Murat; Serletis, Demitre

2015-01-01

We report here on a rare case of a large, lateral sphenoid wing tumor with radiographic and intraoperative findings highly suggestive of meningioma, yet pathology was in fact consistent with metastatic prostate adenocarcinoma. An 81 year-old male presented with expressive dysphasia, right-sided weakness and headaches. Imaging revealed a heterogeneously-enhancing lesion based on the left lateral sphenoid wing. The presumed diagnosis was strongly in favor of meningioma, and the patient underwent complete resection of the dural-based lesion. Final pathology confirmed the unexpected finding of a metastatic prostate adenocarcinoma. Although he tolerated surgery well, the patient was subsequently referred for palliative therapy given findings of widespread systemic disease. Intracranial metastases may involve the dura, at times presenting with rare radiographic features highly suggestive for meningioma, as in our case here. This makes differentiation, at least based on imaging, a challenge. Elderly patients presenting with neurological deficits secondary to a newly-diagnosed, dural-based lesion should thus be considered for metastasis, prompting additional imaging studies (including body CT, MRI or PET) to rule out a primary lesion elsewhere. In some cases, this may affect the overall decision to proceed with surgical resection, or alternatively, to proceed directly to palliative therapy (the latter decision made in the context of widespread metastatic disease). We conclude that dural-based metastatic lesions may mimic meningiomas, warranting thorough pre-operative work-up to exclude the possibility of metastasis. In certain cases, identification of widespread disease might preclude surgery and favor palliation, instead. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR.

PubMed

Norlelawati, A T; Mohd Danial, G; Nora, H; Nadia, O; Zatur Rawihah, K; Nor Zamzila, A; Naznin, M

2016-04-01

Synovial sarcoma (SS) is a rare cancer and accounts for 5-10% of adult soft tissue sarcomas. Making an accurate diagnosis is difficult due to the overlapping histological features of SS with other types of sarcomas and the non-specific immunohistochemistry profile findings. Molecular testing is thus considered necessary to confirm the diagnosis since more than 90% of SS cases carry the transcript of t(X;18)(p11.2;q11.2). The purpose of this study is to diagnose SS at molecular level by testing for t(X;18) fusion-transcript expression through One-step reverse transcriptase real-time Polymerase Chain Reaction (PCR). Formalin-fixed paraffin-embedded tissue blocks of 23 cases of soft tissue sarcomas, which included 5 and 8 cases reported as SS as the primary diagnosis and differential diagnosis respectively, were retrieved from the Department of Pathology, Tengku Ampuan Afzan Hospital, Kuantan, Pahang. RNA was purified from the tissue block sections and then subjected to One-step reverse transcriptase real-time PCR using sequence specific hydrolysis probes for simultaneous detection of either SYT-SSX1 or SYT-SSX2 fusion transcript. Of the 23 cases, 4 cases were found to be positive for SYT-SSX fusion transcript in which 2 were diagnosed as SS whereas in the 2 other cases, SS was the differential diagnosis. Three cases were excluded due to failure of both amplification assays SYT-SSX and control β-2-microglobulin. The remaining 16 cases were negative for the fusion transcript. This study has shown that the application of One-Step reverse transcriptase real time PCR for the detection SYT-SSX transcript is feasible as an aid in confirming the diagnosis of synovial sarcoma.

Molecular pathology of bone tumours: diagnostic implications.

PubMed

Puls, Florian; Niblett, Angela J; Mangham, D Chas

2014-03-01

Alongside histomorphology and immunohistochemistry, molecular pathology is now established as one of the cornerstones in the tissue diagnosis of bone tumours. We describe the principal molecular pathological techniques employed, and each of the bone tumour entities where their identified characteristic molecular pathological changes can be detected to support and confirm the suspected histological diagnosis. Tumours discussed include fibrous dysplasia, classical and subtype osteosarcomas, central and surface cartilaginous tumours, Ewing's sarcoma, vascular tumours, aneurysmal bone cyst, chordoma, myoepithelioma, and angiomatoid fibrous histiocytoma. This is a rapidly evolving field with discoveries occurring every few months, and some of the newer entities (the Ewing's-like sarcomas), which are principally identified by their molecular pathology characteristics, are discussed. © 2013 John Wiley & Sons Ltd.

Myofibroblastoma of the male breast: a rare entity with radiologic-pathologic correlation

PubMed Central

Comer, John D.; Cui, Xiaoyan; Eisen, Carolyn Sharyn; Abbey, Genevieve; Arleo, Elizabeth Kagan

2016-01-01

A 73-year old man with a history of multiple genitourinary malignancies was found to have a left retroareolar soft tissue mass on CT assessment of disease, and dedicated breast imaging was recommended. Diagnostic mammography and ultrasonography confirmed a solid mass, for which biopsy was recommended. Pathologic analysis demonstrated a spindle cell neoplasm with an immunoreactivity pattern consistent with myofibroblastoma. While this entity is benign, nonspecific imaging features necessitate tissue sampling for pathologic diagnosis, and, given pathologic rarity, open communication between the radiologist and pathologist is important to establish the correct diagnosis and to recommend appropriate management. PMID:27936420

Is the presence of 6 or fewer crypt apoptotic bodies sufficient for diagnosis of graft versus host disease? A decade of experience at a single institution.

PubMed

Lin, Jingmei; Fan, Rong; Zhao, Zijin; Cummings, Oscar W; Chen, Shaoxiong

2013-04-01

Histopathology assessment is crucial for the diagnosis of graft versus host disease (GVHD), as the presence of crypt apoptosis is the cardinal criterion required. However, crypt apoptosis is not limited to GVHD; it also occurs in other conditions such as infection, drug reaction, or inflammatory reactions unrelated to GVHD. To better determine whether the presence of 6 or fewer apoptotic bodies is sufficient for the diagnosis of GVHD, we retrospectively reviewed 78 colon biopsies from 66 patients who received either hematopoietic stem cell (HSCT) or cord blood cell transplantation and whose colon biopsies exhibited apoptotic bodies. Among them, 41 cases contained 6 or fewer apoptotic bodies in the colon biopsy. These biopsies were compared with 141 colon biopsy controls that showed no significant pathologic changes as well as 16 colon biopsies with cytomegalovirus colitis from patients without a history of bone marrow transplantation. Among the 41 cases reviewed, 7 patients had coexisting GVHD in other organs (skin or liver). However, gastrointestinal symptoms of at least 4 HSCT patients whose colon biopsies contained 6 or fewer apoptotic bodies completely resolved in the absence of further intervention for GVHD. The discrepancy between pathologic findings and the clinical course may be due to confounding factors, such as infection or medication-induced injury. Our data suggest that identifying 6 or fewer crypt apoptotic bodies in colon biopsies from HSCT patients is worth reporting in order to alert the clinicians of the possibility of GVHD but not sufficient to render a diagnosis on the pathologic grounds alone. The colon biopsies containing 6 or fewer apoptotic bodies represent a heterogenous group. We suggest this group to be classified as indeterminate for GVHD, instead of diagnosing GVHD outright. Synthesis of all clinical, endoscopic, and pathologic information, including the status of infection, coexisting GVHD involvement in the other organs, and medication, is essential for confirmation of the diagnosis of GVHD.

Gorlin syndrome and bilateral ovarian fibroma

PubMed Central

Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

2012-01-01

INTRODUCTION Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. PRESENTATION OF CASE To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. DISCUSSION A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. CONCLUSION Gorlin–Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. PMID:22771908

[Primitive neuroectodermal tumor/Ewing's sarcoma of the penis in children: a case report and review of the literature].

PubMed

Zhang, Da-Wei; Jin, Mei; Zhou, Chun-Ju; Song, Hong-Cheng; Ma, Xiao-Li

2012-12-01

To investigate the clinical manifestations, pathological characteristics and treatment of primitive neuroectodermal tumor/Ewing's sarcoma (PNET/EWS) of the penis in children. We analyzed the clinical data of a case of PNET/EWS and reviewed relevant literature. The patient was a 5-year-old boy, admitted for penis swelling with pain for 11 months. Biopsy showed a small round cell tumor, CD99 positive by immunohistochemical staining, with EWS translocation by fluorescence in situ hybridization on molecular biological examination. The tumor was confirmed to be PNET/EWS of the penis, and disappeared after 45 weeks of chemotherapy and local radiotherapy. PNET/EWS of the penis is an extremely rare disease, with no specific clinical symptoms except penis enlargement with pain. Immunohistochemistry and molecular biological examination contribute to its diagnosis.

Monophasic Synovial Sarcoma Presenting as Mitral Valve Obstruction

PubMed Central

Chokesuwattanaskul, Warangkana; Terrell, Jason; Jenkins, Leigh Ann

2010-01-01

We report the case of a 26-year-old man who experienced progressive left-sided chest pain and 2 episodes of near-syncope. Studies revealed a 15-cm mass in the upper left lung, a 10-cm mass in the medial base of the left lung, and a 5-cm left atrial mass that involved the left lung, infiltrated the left pulmonary vein, and prolapsed into the mitral valve, causing intermittent obstruction. The patient underwent surgical excision of the left atrial tumor. Pathologic evaluation confirmed the diagnosis of monophasic synovial sarcoma. To our knowledge, this is only the 3rd report of left atrial invasion and resultant mitral valve obstruction from a synovial sarcoma that infiltrated the pulmonary vein. We believe that this is the 1st documented case of a metastatic left atrial synovial sarcoma in monophasic form. PMID:20844626

Ciliated muconodular papillary tumour of the lung: a newly defined low-grade malignant tumour.

PubMed

Sato, Shuichi; Koike, Teruaki; Homma, Keiichi; Yokoyama, Akira

2010-11-01

We present two cases of ciliated muconodular papillary tumour (CMPT) in this report. CMPT is a newly defined low-grade malignant tumour with ciliated columnar epithelial cells, occurring in the peripheral lung. Both patients underwent pulmonary resection due to an enlarged solitary pulmonary nodule. Pathological findings in both cases confirmed a papillary tumour with a mixture of ciliated columnar and goblet cells. The tumours were rich in mucous and had spread along the alveolar walls, as observed in bronchioloalveolar carcinoma. Nuclear atypia was mild, and no mitotic activity was observed. Immunohistochemically, tumour cells stained positive for carcinoembryonic antigen, thyroid transcription factor-1 and cytokeratin 7 but not for cytokeratin 20. The immunohistochemical staining patterns were almost identical to those of pulmonary adenocarcinoma. We definitively diagnosed as CMPT. Both patients remained relapse-free.

Takotsubo Cardiomyopathy: Case Series and Literature Review

PubMed Central

Cavayero, Chase; Kar, Pran; Kar, Sunny

2016-01-01

Although originally considered to be uncommon, Takotsubo cardiomyopathy is becoming increasingly visible, annually comprising an increasing portion of suspected diagnoses of acute coronary syndrome. This condition is characterized by reversible left ventricular akinesis without significant coronary artery obstruction. This case study presents five patients diagnosed with Takotsubo cardiomyopathy, as confirmed by echocardiogram and angiography. All of the patients presented with classic myocardial chest pain and elevated troponins. Following diagnosis, they were treated with supportive measures, particularly angiotensin-converting enzyme inhibitors, and beta-blockers. All patients made a full recovery. Though the mechanism of Takotsubo has not been fully elucidated, hypotheses suggest it may be related to excessive catecholamine levels causing either myocardial stunning or coronary vasospasm. Recognition and understanding of this unusual pathology are essential because it can lead to improved clinical management. PMID:27446769

A rare case of atypical pleomorphic adenoma arising from periocular ectopic lacrimal gland.

PubMed

Wajda, Brynn N; Mancini, Ronald; Evers, Bret; Nick Hogan, R

2018-06-23

To describe features of atypical pleomorphic adenoma, a rare clinical entity, particularly when found in ectopic periocular lacrimal gland tissue. Case report of biopsy-confirmed periocular atypical pleomorphic adenoma. A 35-year-old female presented with a unique orbital lesion found to be ectopic lacrimal gland demonstrating atypical pleomorphic adenoma on formal histopathologic review. Pleomorphic adenoma is pathologically characterized as an epithelial lesion intermixed with mesenchymal elements. It is further classified as atypical with the presence of features such as hypercellularity, regions of necrosis or hyalinization, cellular dysplasia, capsular violation, and malignant characteristics without frank local extension or distant metastases. Due to its rarity, the natural history and prognosis of atypical pleomorphic adenoma is unclear. Physicians need to recognize this entity, and complete surgical excision with strict follow-up regimens are likely warranted.

Pathology informatics fellowship retreats: The use of interactive scenarios and case studies as pathology informatics teaching tools.

PubMed

Lee, Roy E; McClintock, David S; Balis, Ulysses J; Baron, Jason M; Becich, Michael J; Beckwith, Bruce A; Brodsky, Victor B; Carter, Alexis B; Dighe, Anand S; Haghighi, Mehrvash; Hipp, Jason D; Henricks, Walter H; Kim, Jiyeon Y; Klepseis, Veronica E; Kuo, Frank C; Lane, William J; Levy, Bruce P; Onozato, Maristela L; Park, Seung L; Sinard, John H; Tuthill, Mark J; Gilbertson, John R

2012-01-01

Last year, our pathology informatics fellowship added informatics-based interactive case studies to its existing educational platform of operational and research rotations, clinical conferences, a common core curriculum with an accompanying didactic course, and national meetings. The structure of the informatics case studies was based on the traditional business school case study format. Three different formats were used, varying in length from short, 15-minute scenarios to more formal multiple hour-long case studies. Case studies were presented over the course of three retreats (Fall 2011, Winter 2012, and Spring 2012) and involved both local and visiting faculty and fellows. Both faculty and fellows found the case studies and the retreats educational, valuable, and enjoyable. From this positive feedback, we plan to incorporate the retreats in future academic years as an educational component of our fellowship program. Interactive case studies appear to be valuable in teaching several aspects of pathology informatics that are difficult to teach in more traditional venues (rotations and didactic class sessions). Case studies have become an important component of our fellowship's educational platform.

Cranio-orbital primary intraosseous haemangioma.

PubMed

Gupta, T; Rose, G E; Manisali, M; Minhas, P; Uddin, J M; Verity, D H

2013-11-01

Primary intraosseous haemangioma (IOH) is a rare benign neoplasm presenting in the fourth and fifth decades of life. The spine and skull are the most commonly involved, orbital involvement is extremely rare. We describe six patients with cranio-orbital IOH, the largest case series to date. Retrospective review of six patients with histologically confirmed primary IOH involving the orbit. Clinical characteristics, imaging features, approach to management, and histopathological findings are described. Five patients were male with a median age of 56. Pain and diplopia were the most common presenting features. A characteristic 'honeycomb' pattern on CT imaging was demonstrated in three of the cases. Complete surgical excision was performed in all cases with presurgical embolisation carried out in one case. In all the cases, histological studies identified cavernous vascular spaces within the bony tissue. These channels were lined by single layer of cytologically normal endothelial cells. IOCH of the cranio-orbital region is rare; in the absence of typical imaging features, the differential diagnosis includes chondroma, chondrosarcoma, bony metastasis, and lymphoma. Surgical excision may be necessary to exclude more sinister pathology. Intraoperative haemorrhage can be severe and may be reduced by preoperative embolisation.

Application of neoadjuvant chemotherapy in occult breast cancer

PubMed Central

Yang, Haisong; Li, Ling; Zhang, Mengmeng; Zhang, Shiyong; Xu, Shu; Ma, Xiaoxia

2017-01-01

Abstract Rationale: Although rare, occult breast cancer (OBC) originates from breast tissue. Its primary lesions cannot be identified by clinical examination or imaging; therefore, the diagnosis, treatment, and prognosis remain controversial. Patient concerns: This study comprised 5 female OBC patients who were admitted to the Affiliated Hospital of Guizhou Medical University for painless axillary lumps. Diagnoses: 18F-flurodeoxyglucose (18F-FDG) positron emission tomography/computed tomography (PET/CT) indicated metastasis in the ipsilateral axillary lymph nodes. No clear breast primary lesions were identified; other organs were also excluded as the primary site. Pathological biopsy confirmed axillary lymph node metastasis of adenocarcinoma. Immunohistochemical staining of the tumor to identify the source revealed that estrogen receptors (ERs) and progesterone receptors (PgRs) were positive in 2 cases, ER was positive and PR was negative in 1 case, and both were negative in 2 cases. Human epidermal growth factor receptor 2 was negative in all cases. All patients were diagnosed with OBC. Interventions: All patients underwent neoadjuvant chemotherapy (NAC). One patient did not undergo follow-up therapy. The other 4 underwent total mastectomy plus axillary lymph node dissection followed by radiotherapy. Two patients also underwent endocrine therapy. Outcomes: Patients were followed up for 9.0 to 72.0 months. Four achieved pathological complete response. One patient experienced metastasis to the ipsilateral supraclavicular lymph nodes 2.0 years later, which was cleared after additional treatment. The other patients were tumor free. Lessons: Here, we are reporting 5 cases of OBC treated with NAC that were evaluated by 18F-FDG PET/CT scans. This study suggests that NAC might lead to a positive outcome. PMID:28984771

Visualization of the Long Thoracic Nerve using High-Resolution Sonography.

PubMed

Lieba-Samal, D; Morgenbesser, J; Moritz, T; Gruber, G M; Bernathova, M; Michaud, J; Bodner, G

2015-06-01

The long thoracic nerve (LTN) innervates the serratus anterior muscle (SA) which plays an important role in shoulder function. Evaluation of the LTN has so far been restricted to clinical assessment and partly electromyography and neurography. Progress of high-resolution ultrasound (HRUS) increasingly enables visualization of small peripheral nerves and their pathologies. We therefore aimed at (a) clarifying the possibility of visualization of the LTN from its origin to the most distal point in the supraclavicular region visible and (b) developing an ultrasound protocol for routine use. We further present two cases of patients with LTN pathology. The study consisted of two parts: Part 1 included 4 non-enbalmed human bodies in whom the LTN (n = 8) was located and then marked by ink injection. Correct identification was confirmed by anatomical dissection. Part 2 included 20 healthy volunteers whose LTN (n = 40) was assessed independently by two radiologists. Identification of the LTN was defined as consensus in recorded images. LTN was clearly visible in all anatomical specimens and volunteers using HRUS and could be followed until the second slip of the serratus anterior muscle from the supraclavicular region. In anatomical specimens, dissection confirmed HRUS findings. For all volunteers, consensus was obtained. The mean nerve diameter was 1.6 mm ± 0.3 (range 1.1 - 2.1 mm) after the formation of the main trunk. We hereby confirm a reliable possibility of visualization of the LTN in anatomical specimens as well as in volunteers. We encourage HRUS of the LTN to be part of the diagnostic work-up in patients presenting with scapular winging, shoulder weakness or pain of unknown origin. © Georg Thieme Verlag KG Stuttgart · New York.

Agreement Between Computed Tomography and Pathologic Nodule Counts in Colorectal Lung Metastases.

PubMed

Marron, M Carmen; Lora, David; Gamez, Pablo; Rivas, Juan J; Embun, Raul; Molins, Laureano; de la Cruz, Javier

2016-01-01

Computed tomography is the most common technique used to estimate the number of pulmonary metastases and their resectability. A lack of agreement between radiologic and surgical pathologic findings could potentially lead to incomplete resection or to rejection of patients for potentially curative treatments. The objective of this study was to estimate the disagreement between the number of radiologic lesions and the number of histologically confirmed malignant lesions excised from patients with pulmonary metastases from colorectal cancer. This was a multicenter longitudinal study using a national registry. All patients underwent open surgery for pulmonary metastasectomy. Radiologic unilateral involvement was documented in 345 of 404 patients (85%); 253 (73%) presented with single nodules. The radiologic and malignant pathologic findings were concordant in 316 (78%) patients. The two independent predictors of discordance between computed tomography and the number of pathologic metastases were the bilateral involvement and the number of radiologic nodules. This model explained 28% of the variability in the disagreement frequency and discriminated between agreement and disagreement in 85% of the patients. Discrepancies increased with the nodule count with an odds ratio of 6.17 (95% confidence interval, 4.08 to 9.33) per additional nodule. For similar nodule counts, a lower disagreement frequency was observed among bilateral cases (odds ratio, 0.2; 95% confidence interval, 0.07 to 0.55). Differences between the radiologic and pathologic findings were documented in 1 of every 5 patients. The correlation was very accurate in patients with single radiologic nodules. However, half of the patients with more nodules showed discrepancies. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Activating KRAS mutations are characteristic of oncocytic sinonasal papilloma and associated sinonasal squamous cell carcinoma.

PubMed

Udager, Aaron M; McHugh, Jonathan B; Betz, Bryan L; Montone, Kathleen T; Livolsi, Virginia A; Seethala, Raja R; Yakirevich, Evgeny; Iwenofu, O Hans; Perez-Ordonez, Bayardo; DuRoss, Kathleen E; Weigelin, Helmut C; Lim, Megan S; Elenitoba-Johnson, Kojo Sj; Brown, Noah A

2016-08-01

Oncocytic sinonasal papillomas (OSPs) are benign tumours of the sinonasal tract, a subset of which are associated with synchronous or metachronous sinonasal squamous cell carcinoma (SNSCC). Activating EGFR mutations were recently identified in nearly 90% of inverted sinonasal papillomas (ISPs) - a related tumour with distinct morphology. EGFR mutations were, however, not found in OSP, suggesting that different molecular alterations drive the oncogenesis of these tumours. In this study, tissue from 51 cases of OSP and five cases of OSP-associated SNSCC was obtained retrospectively from six institutions. Tissue was also obtained from 50 cases of ISP, 22 cases of ISP-associated SNSCC, ten cases of exophytic sinonasal papilloma (ESP), and 19 cases of SNSCC with no known papilloma association. Using targeted next-generation and conventional Sanger sequencing, we identified KRAS mutations in 51/51 (100%) OSPs and 5/5 (100%) OSP-associated SNSCCs. The somatic nature of KRAS mutations was confirmed in a subset of cases with matched germline DNA, and four matched pairs of OSP and concurrent associated SNSCC had concordant KRAS genotypes. In contrast, KRAS mutations were present in only one (5%) SNSCC with no known papilloma association and none of the ISPs, ISP-associated SNSCCs, or ESPs. This is the first report of somatic KRAS mutations in OSP and OSP-associated SNSCC. The presence of identical mutations in OSP and concurrent associated SNSCC supports the putative role of OSP as a precursor to SNSCC, and the high frequency and specificity of KRAS mutations suggest that OSP and OSP-associated SNSCC are biologically distinct from other similar sinonasal tumours. The identification of KRAS mutations in all studied OSP cases represents an important development in our understanding of the pathogenesis of this disease and may have implications for diagnosis and therapy. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

The Spectrum of Mutations in Progranulin

PubMed Central

Yu, Chang-En; Bird, Thomas D.; Bekris, Lynn M.; Montine, Thomas J.; Leverenz, James B.; Steinbart, Ellen; Galloway, Nichole M.; Feldman, Howard; Woltjer, Randall; Miller, Carol A.; Wood, Elisabeth McCarty; Grossman, Murray; McCluskey, Leo; Clark, Christopher M.; Neumann, Manuela; Danek, Adrian; Galasko, Douglas R.; Arnold, Steven E.; Chen-Plotkin, Alice; Karydas, Anna; Miller, Bruce L.; Trojanowski, John Q.; Lee, Virginia M.-Y.; Schellenberg, Gerard D.; Van Deerlin, Vivianna M.

2010-01-01

Background Mutation in the progranulin gene (GRN) can cause frontotemporal dementia (FTD). However, it is unclear whether some rare FTD-related GRN variants are pathogenic and whether neurodegenerative disorders other than FTD can also be caused by GRN mutations. Objectives To delineate the range of clinical presentations associated with GRN mutations and to define pathogenic candidacy of rare GRN variants. Design Case-control study. Setting Clinical and neuropathology dementia research studies at 8 academic centers. Participants Four hundred thirty-four patients with FTD, including primary progressive aphasia, semantic dementia, FTD/amyotrophic lateral sclerosis (ALS), FTD/motor neuron disease, corticobasal syndrome/corticobasal degeneration, progressive supranuclear palsy, Pick disease, dementia lacking distinctive histopathology, and pathologically confirmed cases of frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U); and 111 non-FTD cases (controls) in which TDP-43 deposits were a prominent neuropathological feature, including subjects with ALS, Guam ALS and/or parkinsonism dementia complex, Guam dementia, Alzheimer disease, multiple system atrophy, and argyrophilic grain disease. Main Outcome Measures Variants detected on sequencing of all 13 GRN exons and at least 80 base pairs of flanking introns, and their pathogenic candidacy determined by in silico and ex vivo splicing assays. Results We identified 58 genetic variants that included 26 previously unknown changes. Twenty-four variants appeared to be pathogenic, including 8 novel mutations. The frequency of GRN mutations was 6.9% (30 of 434) of all FTD-spectrum cases, 21.4% (9 of 42) of cases with a pathological diagnosis of FTLD-U, 16.0% (28 of 175) of FTD-spectrum cases with a family history of a similar neurodegenerative disease, and 56.2% (9 of 16) of cases of FTLD-U with a family history. Conclusions Pathogenic mutations were found only in FTD-spectrum cases and not in other related neurodegenerative diseases. Haploinsufficiency of GRN is the predominant mechanism leading to FTD. PMID:20142524

Perinatal Outcomes Associated With Isolated Velamentous Cord Insertion in Singleton and Twin Pregnancies.

PubMed

Sinkin, Joshua A; Craig, Wendy Y; Jones, Michael; Pinette, Michael G; Wax, Joseph R

2018-02-01

To evaluate perinatal outcomes in singleton and twin pregnancies with pathologically confirmed velamentous cord insertion without vasa previa. This retrospective case-control study included all nonanomalous singleton and twin pregnancies with pathologically confirmed velamentous cord insertion delivered in a single institution between January 1, 2005, and July 1, 2015, and having an ultrasound examination by maternal-fetal medicine. For each case, the next 2 consecutive deliveries matched for gestational age at delivery ± 1 week and, in twins, amnionicity and chorionicity served as controls. Primary outcomes included surgical delivery for a nonreassuring intrapartum fetal heart rate tracing, umbilical arterial cord pH of less than 7.2, 5-minute Apgar score of less than 7, birth weight below the 10th percentile, neonatal intensive care unit admission, fetal or neonatal death, and cord avulsion necessitating manual placental extraction. Outcomes were available for 53 singletons with 103 matched controls and 33 twin pregnancies with 65 matched controls. In singletons, velamentous cord insertion was associated with cord pH of less than 7.2 (odds ratio [OR] 3.5; 95% confidence interval [CI], 1.1-11.2; P = .039), 5-minute Apgar score of less than 7 (OR, 5.3; 95% CI, 0.99-28.1; P = .045), and cord avulsion requiring manual placental extraction (7.5% versus 0%; P = .012). Associations were suggested with increased surgical delivery for a nonreassuring intrapartum fetal heart rate tracing (OR, 2.4; 95% CI, 0.9-6.9; P = .14), birth weight below the 10th percentile (OR, 2.1; 95% CI, 0.8-5.9; P = .21), and fetal or neonatal death (3.8% versus 0%; P = .11). Velamentous cord insertions were also associated with placental abruption in singletons (7.5% versus 0%; P = .013). Among twins, velamentous cord insertion was associated with fetal or neonatal death (9.1% versus 0%; P = .036). Isolated confirmed velamentous cord insertion is associated with adverse perinatal outcomes in singleton and twin gestations. © 2017 by the American Institute of Ultrasound in Medicine.

Articular manifestations in patients with Lyme disease.

PubMed

Vázquez-López, María Esther; Díez-Morrondo, Carolina; Sánchez-Andrade, Amalia; Pego-Reigosa, Robustiano; Díaz, Pablo; Castro-Gago, Manuel

To determine the percentage of Lyme patients with articular manifestations in NW Spain and to know their evolution and response to treatment. A retrospective study (2006-2013) was performed using medical histories of confirmed cases of Lyme disease showing articular manifestations. Clinical and laboratory characteristics, together with the treatment and evolution of the patients, were analysed. Seventeen out of 108 LD confirmed patients (15.7%) showed articular manifestations. Regarding those 17 patients, 64.7%, 29.4% and 5.9% presented arthritis, arthralgia and bursitis, respectively. The knee was the most affected joint. Articular manifestations were often associated to neurological, dermatological and cardiac pathologies. Otherwise, most patients were in Stage III. The 11.8% of the cases progressed to a recurrent chronic arthritis despite the administration of an appropriate treatment. Lyme disease patients showing articular manifestations should be included in the diagnosis of articular affections in areas of high risk of hard tick bite, in order to establish a suitable and early treatment and to avoid sequels. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

[Pathologic conditions in pregnancy. Preliminary evaluation of the effectiveness of magnetic resonance].

PubMed

Beomonte Zobel, B; Tella, S; Innacoli, M; D'Archivio, C; Cardone, G; Masciocchi, C; Gallucci, M; Cappa, F; Passariello, R

1991-03-01

Some authors suggested that MR imaging could represent an effective diagnostic alternative in the study of pathologic conditions of mother and fetus during pregnancy. To verify the actual role of MR imaging, we examined 20 patients in the 2nd and 3rd trimester of gestation, after a preliminary US examination. Fifteen patients presented fetal or placental pathologies; in 4 patients the onset of the pathologic condition occurred during pregnancy; in 1 case of US diagnosis of fetal ascites, MR findings were normal and the newborn was healthy. As for placental pathologies, our series included a case of placental cyst, two hematomas between placenta and uterine wall, and two cases of partial placenta previa. As for fetal malformations, we evaluated a case of omphalocele, one of Prune-Belly syndrome, a case of femoral asymmetry, one of thanatophoric dwarfism, a case of thoracopagus twins with cardiovascular abnormalities, two fetal hydrocephali, and three cases of pyelo-ureteral stenosis. As for maternal pathologies during pregnancy, we observed a case of subserous uterine fibromyoma, one of right hydronephrosis, one of protrusion of lumbar intervertebral disk, and a large ovarian cyst. In our experience, MR imaging exhibited high sensitivity and a large field of view, which were both useful in the investigation of the different conditions occurring during pregnancy. In the evaluation of fetal and placental abnormalities, especially during the 3rd trimester, the diagnostic yield of MR imaging suggested it as a complementary technique to US for the evaluation of fetal malformations and of intrauterine growth retardation.

Molecular genetics analysis of hereditary breast and ovarian cancer patients in India

PubMed Central

Soumittra, Nagasamy; Meenakumari, Balaiah; Parija, Tithi; Sridevi, Veluswami; Nancy, Karunakaran N; Swaminathan, Rajaraman; Rajalekshmy, Kamalalayam R; Majhi, Urmila; Rajkumar, Thangarajan

2009-01-01

Background Hereditary cancers account for 5–10% of cancers. In this study BRCA1, BRCA2 and CHEK2*(1100delC) were analyzed for mutations in 91 HBOC/HBC/HOC families and early onset breast and early onset ovarian cancer cases. Methods PCR-DHPLC was used for mutation screening followed by DNA sequencing for identification and confirmation of mutations. Kaplan-Meier survival probabilities were computed for five-year survival data on Breast and Ovarian cancer cases separately, and differences were tested using the Log-rank test. Results Fifteen (16%) pathogenic mutations (12 in BRCA1 and 3 in BRCA2), of which six were novel BRCA1 mutations were identified. None of the cases showed CHEK2*1100delC mutation. Many reported polymorphisms in the exonic and intronic regions of BRCA1 and BRCA2 were also seen. The mutation status and the polymorphisms were analyzed for association with the clinico-pathological features like age, stage, grade, histology, disease status, survival (overall and disease free) and with prognostic molecular markers (ER, PR, c-erbB2 and p53). Conclusion The stage of the disease at diagnosis was the only statistically significant (p < 0.0035) prognostic parameter. The mutation frequency and the polymorphisms were similar to reports on other ethnic populations. The lack of association between the clinico-pathological variables, mutation status and the disease status is likely to be due to the small numbers. PMID:19656415

A novel PRNP Y218N mutation in Gerstmann-Sträussler-Scheinker disease with neurofibrillary degeneration.

PubMed

Alzualde, Ainhoa; Indakoetxea, Begoña; Ferrer, Isidre; Moreno, Fermin; Barandiaran, Myriam; Gorostidi, Ana; Estanga, Ainara; Ruiz, Irune; Calero, Miguel; van Leeuwen, Fred W; Atares, Begoña; Juste, Ramón; Rodriguez-Martínez, Ana Belén; López de Munain, Adolfo

2010-08-01

Gerstmann-Sträussler-Scheinker (GSS) disease is a prion disease associated with prion protein gene (PRNP) mutations. We report a novel PRNP mutation (Y218N) associated with GSS disease in a pathologically confirmed case and in two other affected family members. The clinical features of these cases met criteria for possible Alzheimer disease and possible frontotemporal dementia. Neuropathologic analysis revealed deposition of proteinase K-resistant prion protein (PrP(res)), widespread hyperphosphorylated tau pathology, abnormal accumulation of mitochondria in the vicinity of PrP deposits, and expression of mutant ubiquitin (UBB(+1)) in neurofibrillary tangles and dystrophic neurites. Prion protein immunoblotting using 3F4 and 1E4 antibodies disclosed multiple bands ranging from approximately 20 kd to 80 kd and lower bands of 15 kd and approximately 10 kd, the latter only seen after a long incubation. These bands were partially resistant to proteinase K pretreatment. This pattern differs from those seen in Creutzfeldt-Jakob disease andresembles those reported in other GSS cases. The approximately 10kd band was recognized with anti-PrP C-terminus antibodies but not with anti-N terminus antibodies, suggesting PrP truncation at the N terminal. This new mutation extends the list of known mutations responsible for GSS disease and reinforces its clinical heterogeneity. Genetic examination of the PRNP gene should be included in the workup of patients with poorly classifiable dementia.

Fetus in Fetu in the Scrotal Sac: Case Report and Literature Review

PubMed Central

Ji, Yi; Song, Bo; Chen, Siyuan; Jiang, Xiaoping; Yang, Gang; Gao, Xia; Xiang, Bo

2015-01-01

Abstract Fetus in fetu (FIF) is a rare congenital anomaly. The most common site at which FIF occurs is the retroperitoneum. The mechanisms underlying the development of FIF have not been fully elucidated. The monozygotic twin theory postulates that FIF results from the unequal division of the totipotent cells of the blastocyst. However, the monozygotic twin theory does not explain all cases of FIF. Herein, we describe the clinical characteristics of a 20-day-old infant with scrotal sac swelling. Ultrasonography and computed tomography revealed the presence of a mass consistent with a FIF rather than a teratoma. Surgical removal and a subsequent pathological evaluation demonstrated that the anencephalic fetus exhibited limb buds adjacent to a palpable vertebral column, supporting the diagnosis of FIF. The infant had an uneventful recovery and was discharged on the fifth postoperative day. In the present report, the pathogenesis, presentation, diagnosis, and management of FIF, as well as new concepts emerging in this area of research, are discussed. Although the majority of cases of FIF may be diagnosed preoperatively, FIF should be distinguished from teratoma because the latter has substantial malignant potential. The recommended treatment for FIF is complete resection. To confirm the diagnosis of FIF, pathological examination, karyotyping, serologic marker assessment, and DNA restriction site mapping should be performed after removing the mass. Although FIF is thought to be a benign disorder, follow-up is necessary as a precaution against malignant recurrence, which has been described once. PMID:26266375

[Causes of vocal cord dyscinesia and its original factors after endotracheal intubation].

PubMed

Sun, Anke; Zhang, Tiezheng; Liu, Wenyuan; Tang, Weiwei; Guo, Xiaohong

2012-03-01

To research the causes of postintubation vocal cord dyskinesia and its contributing factors. The causes of vocal cord dyskinesia were confirmed by laryngoscope, three-dimensional spiral CT, stroboscope, and the analysis of therapy. The factors relevant to the causes of vocal cord dyskinesia were analysed based on the following elements: (1) the anatomic or pathological condition of patients or the technical skills of anesthetists. (2) emaciated or obese body and neck. (3) the age of patients. (4) the duration of endotracheal tube retention. (5) the types of operations. (6) anesthesia procedure. Among 135 patients, 128 cases (94.81%) manifested arytenoid dislocation, 7 cases (5.19%) vocal cord paralysis. The study showed that the vocal cord dyskinesia associated with anatomic or pathological condition of patients and technical skills of anesthetists (with intubation difficulty) accounted for 76.30%. The patients with relative emaciated body or neck accounted for 90.62% in cases without intubation difficulty. Age had no significant analytical relationship with vocal cord dyskinesia. Prolonged intubation (endotracheal tube retention over 12 hours) was accounted for only 17.64%. The incidence of vocal cord dyskinesia was nearly 0.5% in patients underwent cardio-thoracic surgery, accounting for 59.26% of all the patients. There are two major causes of vocal cord dyskinesia: arytenoid dislocation and vocal cord paralysis, and the rate of vocal cord dyskinesia could be reduced by the improvement of technical skill of anesthetists and/or sufficient attention to the intubation condition of patients.

The Use of Central Pathology Review With Digital Slide Scanning in Advanced-stage Mycosis Fungoides and Sézary Syndrome: A Multi-institutional and International Pathology Study.

PubMed

Gru, Alejandro A; Kim, Jinah; Pulitzer, Melissa; Guitart, Joan; Battistella, Maxime; Wood, Gary S; Cerroni, Lorenzo; Kempf, Werner; Willemze, Rein; Pawade, Joya; Querfeld, Christiane; Schaffer, Andras; Pincus, Laura; Tetzlaff, Michael; Duvic, Madeleine; Scarisbrick, Julia; Porcu, Pierluigi; Mangold, Aaron R; DiCaudo, David J; Shinohara, Michi; Hong, Eric K; Horton, Bethany; Kim, Youn H

2018-06-01

This pathology PILOT study aims to define the role and feasibility of centralized pathology review in a cohort of 75 patients from different centers in the United States and Europe using digital slide scanning. The pathologic material from 75 patients who had been diagnosed with mycosis fungoides/Sézary syndrome and were clinically staged as IIb or above was retrieved from 11 participating centers. Each pathology reviewer was provided with the pathologic diagnosis (by the referring pathologist), and the following list of histopathologic criteria (presence or absence) from the initial report: epidermotropism, folliculotropism (FT), large cell transformation, syringotropism, and granulomas. Patients with advance stage were selected for this study as this is a population where there is significant variability in the diagnosis of pathologic prognostic and predictive biomarkers. The slides were digitally scanned with an Aperio scanner and consensus review of cases occurred when major or minor discrepancies between the referral diagnosis and central pathology review occurred. Among the 75 cases, 70 (93.3%) had a final consensus diagnosis between the 3 central review pathologists. The overall agreement between the consensus review and the referring pathologist was 60%. The overall agreement was also higher between the reviewers and consensus review, compared with the referring pathologist and consensus. 65.3% of cases had some type of discrepancy (major or minor) between the outside and consensus review. Major discrepancies were seen in 34 of 73 cases (46.6%; 73 cases indicated a yes or no response). Minor discrepancies were seen in 32 of 75 (42.7%) of cases. Most of the major discrepancies were accounted by a difference in interpretation in the presence or absence of large cell transformation or FT. Most minor discrepancies were explained by a different interpretation in the expression of CD30. We found digital slide scanning to be a beneficial, reliable, and practical for a methodical approach to perform central pathology review in the context of a large clinical prospective study.

Microglial Activation Correlates with Disease Progression and Upper Motor Neuron Clinical Symptoms in Amyotrophic Lateral Sclerosis

PubMed Central

Brettschneider, Johannes; Toledo, Jon B.; Van Deerlin, Vivianna M.; Elman, Lauren; McCluskey, Leo; Lee, Virginia M.-Y.; Trojanowski, John Q.

2012-01-01

Background/Aims We evaluated clinicopathological correlates of upper motor neuron (UMN) damage in amyotrophic lateral sclerosis (ALS), and analyzed if the presence of the C9ORF72 repeat expansion was associated with alterations in microglial inflammatory activity. Methods Microglial pathology was assessed by IHC with 2 different antibodies (CD68, Iba1), myelin loss by Kluver-Barrera staining and myelin basic protein (MBP) IHC, and axonal loss by neurofilament protein (TA51) IHC, performed on 59 autopsy cases of ALS including 9 cases with C9ORF72 repeat expansion. Results Microglial pathology as depicted by CD68 and Iba1 was significantly more extensive in the corticospinal tract (CST) of ALS cases with a rapid progression of disease. Cases with C9ORF72 repeat expansion showed more extensive microglial pathology in the medulla and motor cortex which persisted after adjusting for disease duration in a logistic regression model. Higher scores on the clinical UMN scale correlated with increasing microglial pathology in the cervical CST. TDP-43 pathology was more extensive in the motor cortex of cases with rapid progression of disease. Conclusions This study demonstrates that microglial pathology in the CST of ALS correlates with disease progression and is linked to severity of UMN deficits. PMID:22720079

Trends in Radical Prostatectomy Risk Group Distribution in a European Multicenter Analysis of 28 572 Patients: Towards Tailored Treatment.

PubMed

van den Bergh, Roderick; Gandaglia, Giorgio; Tilki, Derya; Borgmann, Hendrik; Ost, Piet; Surcel, Christian; Valerio, Massimo; Sooriakumaran, Prasanna; Salomon, Laurent; Briganti, Alberto; Graefen, Markus; van der Poel, Henk; de la Taille, Alexandre; Montorsi, Francesco; Ploussard, Guillaume

2017-08-08

Active surveillance (AS) has been increasingly proposed as the preferential initial management strategy for low-risk prostate cancer (PC), while in high-risk PC the indication for surgery has widened. To evaluate the development of risk group distribution of patients undergoing radical prostatectomy (RP). Retrospective database review of combined RP databases (2000-2015) of four large European centers (Créteil, Paris; San Rafaele, Milan; Martini Klinik, Hamburg; NKI, AvL, Amsterdam). Clinical and pathological characteristics per year of surgery. Eligibility for AS was defined according to Prostate Cancer Research International Active Surveillance criteria: cT≤2c, cN0/X, cM0/X, PSA ≤10ng/ml, prostate-specific antigen density <0.2ng/ml/ml, one to two positive biopsies, and Gleason score ≤6, high-risk disease as: cT≥3, c N1, cM1, PSA >20ng/ml, and/or Gleason ≥8. In total, 28572 patients had complete clinical and 24790 complete pathological data available. The absolute number of RPs increased: 401, 975, 2344, and 2504 in 2000, 2005, 2010, and 2015, respectively. The proportion of cases considered suitable for AS decreased: 31%, 32%, 18%, and 5%, while the cases considered high risk increased: 10%, 8%, 16%, and 30%. The percentage of patients having only localized Gleason 6 disease after RP decreased: 46%, 34%, 14%, and 8% for all patients (p<0.01), as well as for AS-suitable patients: 70%, 54%, 41%, and 38% (p<0.01). Comparisons between centers were outside the scope of this article. Developments in diagnostics may have impacted on results. This European analysis confirmed the risk profile of patients undergoing RP shifting away of the most favorable disease spectrum. Patients with PC clinically considered suitable for AS and men having only localized Gleason 6 disease pathologically comprised a decreasing share of all RP performed. High-risk disease comprised an increasing share of all RPs. The databases of four large European centers of prostate cancer surgery were analyzed. In recent years, the risk profile of patients shifted away of low-risk cancer, while high-risk cancer comprised a larger part of cases. This confirms the introduction of active surveillance for low-risk prostate cancer and increase in potentially curative options for high-risk disease. Copyright © 2017 European Association of Urology. Published by Elsevier B.V. All rights reserved.

Diagnosis of Xp11.2 Translocation Renal Cell Carcinomas in the Thai Patients.

PubMed

Junthaworn, Boontarika; Pradniwat, Kanapon; Hanamornroongruang, Suchanan

2015-11-01

Xp11.2 translocation renal cell carcinomas (TRCCs) are rare tumors recently accepted as a separated tumor type in 2004 WHO classification. To diagnose these tumors, histological recognition and confirmation of translocation are necessary. While the incidence of overall renal cell carcinomas (RCCs) is increased after the age of 40, Xp11.2 TRCCs are predominantly reported in young patients. The incidence of these tumors in Thailand has not been evaluated. To identify the frequency of Xp11.2 TRCCs, clinical presentation and follow-up information in 40 year-old or younger patients by using TFE3 immunostaining to confirm the translocation. All cases of 0- to 40-years-old patients diagnosed as RCCs from nephrectomy specimens between 2001 and 2011 at Siriraj Hospital were reviewed by one pathology resident and two pathologists. Immunohistochemical staining for TFE3 was performed on cases morphologically suspected for TRCC or showing unusual histology. Four cases consistent with Xp11.2 TRCC were identified by TFE3 immunostaining from all 31 cases (12.9%). Three cases were females and one was male. Two cases were at stage 4 and passed away several months after the operation. The other two patients were at stage 2. One patient is alive without recurrence for at least 36 months after surgery alone. The other died from underlying SLE. TFE3 immunostaining is a useful andpractical toolfor screening and diagnosis of Xp11.2 TRCCs, but staining results can be difficult to interpret. Thus, genetic analysis is still necessary especially when immunostaining shows problematic result. Fresh tumor tissue sampling in all young patients is recommended in case of further genetic studies needed.

[Eccrine Porocarcinoma: clinical-pathological study of 19 cases in the Instituto Nacional de Enfermedades Neoplásicas, Lima - Peru].

PubMed

Casavilca, Sandro; Lama, Anny; Guerrero, Melvy; Essary, Lydia R; Mantilla, Raúl; Cano, Luis; Barrionuevo, Carlos

2013-07-01

In order to describe the clinical-pathological characteristics of the cases of Eccrine Porocarcinoma (EP) found in the Instituto Nacional de Enfermedades Neoplásicas (INEN), a cross-sectional study was carried out, including all EP cases recorded between 1998 and 2009. A revision of the clinical-pathological records indentified and a new reading of the pathology slides of the cases found were performed. 19 EP cases were found, the median age of which was 64 years (range: 37-98). EP was primarily found on male patients (57.9%) and was most commonly located on the foot (21.1%), followed by the head, thorax and thigh (15.8%, respectively). In one case, EP was located on the gluteal region, and showed an unusually invasive behavior and rectal involvement. We conclude that EP is a rather uncommon entity in Peru. Its most common location is on the foot and it affects mostly male patients for the most part.

The Transcranial Doppler Sonography for Optimal Monitoring and Optimization of Cerebral Perfusion in Aortic Arch Surgery: A Case Series.

PubMed

Ghazy, Tamer; Darwisch, Ayham; Schmidt, Torsten; Nguyen, Phong; Elmihy, Sohaila; Fajfrova, Zuzana; Zickmüller, Claudia; Matschke, Klaus; Kappert, Utz

2017-06-16

To analyze the feasibility and advantages of transcranial doppler sonography (TCD) for monitoring and optimization of selective cerebral perfusion (SCP) in aortic arch surgery. From April 2013 to April 2014, nine patients with extensive aortic pathology underwent surgery under moderate hypothermic cardiac arrest with unilateral antegrade SCP under TCD monitoring in our institution. Adequate sonographic window and visualization of circle of Willis were to be confirmed. Intraoperatively, a cerebral cross-filling of the contralateral cerebral arteries on the unilateral SCP was to be confirmed with TCD. If no cross-filling was confirmed, an optimization of the SCP was performed via increasing cerebral flow and increasing PCO2. If not successful, the SCP was to be switched to bilateral perfusion. Air bubble hits were recorded at the termination of SCP. A sonographic window was confirmed in all patients. Procedural success was 100%. The mean operative time was 298 ± 89 minutes. Adequate cross-filling was confirmed in 8 patients. In 1 patient, inadequate cross-filling was detected by TCD and an optimization of cerebral flow was necessary, which was successfully confirmed by TCD. There was no conversion to bilateral perfusion. Extensive air bubble hits were confirmed in 1 patient, who suffered a postoperative stroke. The 30-day mortality rate was 0. Conclusion: The TCD is feasible for cerebral perfusion monitoring in aortic surgery. It enables a confirmation of adequacy of cerebral perfusion strategy or the need for its optimization. Documentation of calcific or air-bubble hits might add insight into patients suffering postoperative neurological deficits.

Impact of Interventions to Reduce Alzheimer’s Disease Pathology on the Prevalence of Dementia in the Oldest-Old

PubMed Central

Brookmeyer, Ron; Kawas, Claudia H.; Abdallah, Nada; Paganini-Hill, Annlia; Kim, Ronald C.; Corrada, Maria M.

2016-01-01

Introduction The number of persons aged over 90 years will grow significantly in coming decades. This group has the highest rates of dementia, most commonly Alzheimer’s disease (AD). Methods Using The 90+ Study we developed a statistical model for dementia risk based on brain pathologies. Intervention scenarios which reduce or eliminate AD pathology were considered and the numbers of dementia cases among the U.S. oldest-old that could be prevented were estimated. Results U.S. dementia prevalence among the oldest-old will increase from 1.35 million in 2015 to 4.72 million in 2050.If interventions eliminate AD pathology, dementia prevalence would be reduced by approximately 50%, averting nearly 2.4 million cases in 2050. However, large numbers of dementia cases would still remain. Discussion Reducing AD pathology would significantly decrease the public health burden of dementia. However, other interventions are needed to address the burden associated with other dementing pathologies prevalent in the oldest-old. PMID:26900132

Autopsy-confirmed hippocampal-sparing Alzheimer's disease with delusional jealousy as initial manifestation.

PubMed

Fujishiro, Hiroshige; Iritani, Shuji; Hattori, Miho; Sekiguchi, Hirotaka; Matsunaga, Shinji; Habuchi, Chikako; Torii, Youta; Umeda, Kentaro; Ozaki, Norio; Yoshida, Mari; Fujita, Kiyoshi

2015-09-01

Alzheimer's disease (AD) is clinically characterized by gradual onset over years with worsening of cognition. The initial and most prominent cognitive deficit is commonly memory dysfunction. However, a subset of AD cases has less hippocampal atrophy than would be expected relative to the predominance of cortical atrophy. These hippocampal-sparing cases have distinctive clinical features, including the presence of focal cortical clinical syndromes. Given that previous studies have indicated that severe hippocampal atrophy corresponds to prominent loss of episodic memory, it is likely that memory impairment is initially absent in hippocampal-sparing AD cases. Here, we report on a patient with an 8-year history of delusional jealousy with insidious onset who was clinically diagnosed as possible AD and pathologically confirmed to have AD with relatively preserved neurons in the hippocampus. This patient had delusional jealousy with a long pre-dementia stage, which initially was characterized by lack of memory impairment. Head magnetic resonance imaging findings showed preserved hippocampal volume with bilateral enlarged ventricles and mild-to-moderate cortical atrophy. Head single-photon emission computed tomography revealed severely decreased regional cerebral blood flow in the right temporal lobe. The resolution of the delusion was attributed to pharmacotherapy by an acetylcholinesterase inhibitor, suggesting that the occurrence of delusional jealousy was due to the disease process of AD. Although the neural basis of delusional jealousy remains unclear, this hippocampal-sparing AD case may be classified as an atypical presentation of AD. © 2015 The Authors. Psychogeriatrics © 2015 Japanese Psychogeriatric Society.

[Increased glucose uptake by seborrheic keratosis on PET scan].

PubMed

Merklen-Djafri, C; Truntzer, P; Hassler, S; Cribier, B

2017-05-01

Positron emission tomography (PET) is an examination based upon the uptake of a radioactive tracer by hypermetabolic cells. It is primarily used in tandem with tomodensitometry (PET-TDM) for cancer staging because of its high sensitivity and specificity for the detection of metastases. However, unusually high uptake may occur with benign tumours, including skin tumours. Herein, we report an extremely rare case of pathological uptake levels resulting from seborrhoeic keratosis. A 55-year-old male patient with oesophageal squamous-cell carcinoma was referred to us following the discovery of an area of high marker uptake following PET-TDM and corresponding to a pigmented skin lesion. No other areas of suspect high uptake were seen. The lesion was surgically excised and histological examination indicated seborrhoeic keratosis. The histological appearance was that of standard seborrhoeic keratosis without any notable mitotic activity. PET-TDM is an examination that enables diagnosis of malignancy. However, rare cases have been described of increased marker uptake by benign cutaneous tumours such as histiocytofibroma, pilomatricoma and condyloma. To date, there have only been only very few cases of increased uptake due to seborrhoeic keratosis. This extremely unusual case of increased glucose uptake in PET-TDM due to seborrhoeic keratosis confirms that the hypermetabolic activity detected by this examination is not necessarily synonymous with malignancy and that confirmation by clinical and histological findings is essential. The reasons for increased metabolic activity within such benign tumours are not known. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

[Regression analysis of the characteristics and outcome of colorectal cancer 1995 - 2007].

PubMed

Chen, Chuang-qi; Fang, Le-kun; Ma, Jin-ping; Cai, Shi-rong; Dong, Wen-guang; Huang, Yi-hua; He, Yu-long; Zhan, Wen-hua

2010-07-13

To explore the clinical characteristics and the prognostic factors of patients with colorectal cancer. The data of 2042 cases of colorectal cancer, pathologically confirmed at our hospital from January 1995 to December 2007, were summarized and analyzed. The median age of all cases with colorectal cancer was 59 years old. The high-risk age ranged from 50 to 70 years old. The ratio of male and female was 1.4:1. The lesions located in rectum accounted for 46.2% and those for 22.0% in sigmoid. Patients under age 40 had a higher percentage of poor differentiation (33.5%) and mucinous carcinoma (16.7%). The cases with confirmed stage I, II, III and IV were 5.8%, 42.9%, 31.0% and 20.3% respectively. For all cases, the 1-, 3-, 5- and 10-year survival rates were 92.3%, 73.9%, 65.1% and 57.5% respectively. The independent risk factors for patient prognosis were age, gross type, differentiation, TNM staging and surgical type. Adjuvant chemotherapy was a protective factor. As compared with phase I (1995 - 2001), phase II (2002 - 2007) had a higher proportions of employing stapler, Dixon operation and adjuvant chemotherapy. The 1-, 3- and 5-year survival rates of phase II were higher than phase I (93.4%, 78.0% and 73.2% vs 90.6%, 69.2% and 58.8%). The prognostic factors of patients with colorectal cancer are age, gross type, differentiation, TNM staging, surgical type and adjuvant chemotherapy.

Spontaneous temporal encephaloceles masked by dual pathology: report of two cases.

PubMed

Paleri, V; Watson, C

2001-05-01

Spontaneous temporal meningoencephaloceles are rare entities and diagnostic difficulties can occur. We present two cases whose presentation was atypical and diagnosis delayed by the presence of dual pathology.

[Prenatal diagnosis of isolated otocefalia. Usefulness of three-dimensional ultrasound].

PubMed

Escribano Abad, David; Arbués Gabarre, Juan; Gómez Montes, Enery; Puente Agueda, José Manuel; Herraiz García, Ignacio; Galindo Izquierdo, Alberto

2011-08-01

Otocephaly is a rare and lethal congenital malformation characterized by the presence of agnathia, microstomia, aglossia and synotia. Despite its frequent association with severe malformations, diagnosis in the few published cases is usually made at III trimester. In this case, three-dimensional ultrasound scan was performed in a Chinese primigravida with no remarkable personal nor familiar history since mandible was difficulty visualized with two-dimensional sonography at 21 weeks of gestation. Multiplanar and rendering mode showed the typical cervicofacial features of otocephaly without associated malformations. After parental counselling, they opted for termination of pregnancy and necropsy confirmed our prenatal findings. Our case shows the usefulness of three-dimensional ultrasound in assessing fetal cervicofacial pathology. Volumetric capture allows a delayed study of fetal anatomy and multiplanar mode offers the reconstruction of views whose achivement is difficult with conventional 2D ultrasound. Surface rendering provides excellent spatial vision and enables parents to understand the severity of the malformation thus helping with their decisions.

A Case of a Composite Adrenal Medullary Tumor of Pheochromocytoma and Ganglioneuroma Masquerading as Acute Pancreatitis

PubMed Central

Choi, Eun-Kyoung; Kim, Wan-Ho

2006-01-01

Composite adrenal medullary tumors, composed of both pheochromocytoma and ganglioneuroma, are extremely rare, as are pheochromocytomas masquerading as acute relapsing pancreatitis. We recently experienced a case of a 48-year-old male with both these phenomena. The patient complained of an acute onset of intense abdominal discomfort. At the same time, pancreatic enzymes were increased in concentration. An abdominal computed tomographic scan revealed an enlarged pancreas and a 3-cm left adrenal incidentaloma. Biochemical and 131I-MIBG scintigraphic findings were compatible with a pheochromocytoma. Yet, he had no clinical manifestations suggesting pheochromocytoma. An adrenalectomy was performed and a composite adrenal medullary tumor of pheochromocytoma and ganglioneuroma was confirmed during a pathologic examination. This case illustrates two points: 1) acute abdominal intense discomfort and hyperamylasemia may be unusual presentations of pheochromocytomas; and 2) the possibility of the pheochromocytoma, albeit rare, should be considered when a relapsing pancreatitis of uncertain etiology develops. PMID:16913447

Stabbing Yourself in the Heart: A Case of Autoimmunity Gone Awry

PubMed Central

Vigneswaran, Hari; Parikh, Leslie; Poppas, Athena

2015-01-01

Within internal medicine, cardiac and neurologic pathology comprises a vast majority of patient complaints. Physicians and advanced-care practitioners must be highly educated and comfortable in the evaluation, diagnosis, and management of these entities. Chest pain accounts for millions of annual visits to the emergency room with pericarditis diagnosed in approximately four percent of patients with nonischemic chest pain. Guillain-Barre Syndrome is autoimmune polyneuropathy that often results in transient paralysis. Simultaneous diagnosis of both entities is a rare but described phenomenon. Here, we present a clinical case of GBS associated pericarditis. A fifty-five-year-old man with history of renal transplant presented with lower extremity weakness and urinary incontinence. Physical exam and diagnostic studies confirmed Guillain-Barre Syndrome. Patient subsequently developed stabbing chest pain with clinical presentation and electrocardiogram consistent with pericarditis. The patient was successfully treated for both diseases. This case highlights that although infrequent, internal medicine care providers must be cognizant of this correlation to ensure timely diagnosis and treatment. PMID:26664359

Atypical pleomorphic neoplasms of the pineal gland: Case report and review of the literature.

PubMed

Praver, M; D'Amico, R; Arraez, C; Zacharia, B E; Varma, H; Goldman, J E; Bruce, J N; Canoll, P

2015-01-01

Pineal region tumors are rare and diverse. Among them exist reports of pleomorphic xanthroastrocytoma (PXA) and pleomorphic granular cell astrocytoma (PGCA) of the pineal gland. These related tumors are remarkably similar sharing pleomorphic histologic features with only minor immunohistochemical and ultrastructural differences. We present a case of a 42-year old right-handed woman presented with a longstanding history of migraine headaches which had worsened over the two months leading up to her hospitalization. MRI revealed a 1.7 × 1.3 × 1.6 cm intensely enhancing lesion originating in the pineal gland. The tumor closely resembled PGCA but did not strictly fit the diagnostic requirements of either PGCA or PXA. The present case highlights the exotic nature of pineal region tumors with pleomorphic cell histology. Given the diverse range of tumors encountered in the pineal region, pathological confirmation is mandatory. Favorable clinical outcomes demonstrate that surgical resection alone can yield excellent long-term results for tumors falling within the spectrum of pleomorphic lesions of the pineal gland.

Male breast cancer arising in ectopic axillary breast tissue: A diagnostic dilemma.

PubMed

Xie, Yangchun; Huang, Jin; Xiao, Desheng; Zhong, Meizuo

2013-06-01

Male breast cancer arising in ectopic axillary breast tissue is a rare occurrence and few cases have been reported in the literature. Due to its rarity, male axillary breast cancer is easy to misdiagnose. As for adenocarcinoma in the axilla, it is difficult to identify whether the origin is the mammary tissue or the skin appendages, particularly in cases where there is a poor differentiation. The present study reports the case of a male patient with a right axillary lesion that had been present for 6 months. A histological evaluation revealed the features of a poorly-differentiated adenocarcinoma with regards to the pathological report. The patient was diagnosed with a metastatic adenocarcinoma with unknown primary origin. However, following 4 cycles of intensive chemotherapy, the patient experienced bone metastasis while the local lesion was in partial remission. Further immunohistochemistry confirmed its mammary origin. There is limited literature relating to male ectopic axillary breast cancer, and a high probability of misdiagnosis of this disease.

Male breast cancer arising in ectopic axillary breast tissue: A diagnostic dilemma

PubMed Central

XIE, YANGCHUN; HUANG, JIN; XIAO, DESHENG; ZHONG, MEIZUO

2013-01-01

Male breast cancer arising in ectopic axillary breast tissue is a rare occurrence and few cases have been reported in the literature. Due to its rarity, male axillary breast cancer is easy to misdiagnose. As for adenocarcinoma in the axilla, it is difficult to identify whether the origin is the mammary tissue or the skin appendages, particularly in cases where there is a poor differentiation. The present study reports the case of a male patient with a right axillary lesion that had been present for 6 months. A histological evaluation revealed the features of a poorly-differentiated adenocarcinoma with regards to the pathological report. The patient was diagnosed with a metastatic adenocarcinoma with unknown primary origin. However, following 4 cycles of intensive chemotherapy, the patient experienced bone metastasis while the local lesion was in partial remission. Further immunohistochemistry confirmed its mammary origin. There is limited literature relating to male ectopic axillary breast cancer, and a high probability of misdiagnosis of this disease. PMID:23833669

Metastatic melanoma to the pituitary gland.

PubMed

McCutcheon, Ian E; Waguespack, Steven G; Fuller, Gregory N; Couldwell, William T

2007-08-01

Metastasis to the pituitary gland is unusual, and occurs most often in patients with carcinomas of the breast or lung. Despite its propensity for spread to the brain, metastatic melanoma has rarely been described within the sella. We report two cases of malignant melanoma pathologically confirmed within the pituitary, both metastatic from a primary site on the chest wall. In each patient, transsphenoidal resection of the tumor was incomplete and each received local radiotherapy after surgery. One patient recurred quickly and developed brain metastasis as well. He died four months after resection of the pituitary metastasis, but the second patient survived six months without recurrence. As intrasellar metastasis portends widespread systemic disease and may be synchronous with parenchymal brain metastasis, survival in such patients is limited regardless of adjunctive therapy. Such cases are likely to arise more commonly in future due to the increasing incidence of melanoma. Identifying them by imaging alone is difficult due to inconsistent signal characteristics on MRI (as shown by these cases) and the confusion introduced by any associated intratumoral hemorrhage.

Malignant sigmoidoduodenal fistula.

PubMed

Shapey, I M; Mahmood, K; Solkar, M H

2014-01-01

Duodenocolic fistula is a rare complication of malignant colonic disease especially when involving and originating from the sigmoid colon. We aim to discuss the unusual clinical presentation of this case as well as the investigation and management of duodenocolic fistulas. A 91 year old lady presented as an emergency to a general surgical service at a District General Hospital with diarrhoea, vomiting and weight loss. Computed Tomography (CT) reported a large ovarian cyst elevating the sigmoid colon into immediate proximity of the duodenum. Adenocarcinoma was confirmed on histology obtained by colonoscopy. A classic apple core lesion with fistulating tract from the sigmoid colon to the duodenum was synchronously demonstrated on barium enema. Sigmoido-duodenal fistulae represent a complex manifestation of gastrointestinal pathologies. Management options must be considered in the context of patient wishes, their co-morbidities, and predicted post-operative outcome. In most cases this is likely to represent a non-operative approach, however surgical resection may benefit selected cases on occasion. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Recurrent neck infection with branchial arch fistula in children.

PubMed

Madana, J; Yolmo, Deeke; Kalaiarasi, R; Gopalakrishnan, S; Saxena, S K; Krishnapriya, S

2011-09-01

Acute suppurative neck infections associated with third or fourth branchial arch fistulas are frequently recurrent. Third and fourth branchial arch anomalies are much less common than those of second arch and usually present with left thyroid lobe inflammation. The authors present their experience with 15 cases of pyriform sinus fistulae (PSF) of third branchial arch origin and 3 cases of fourth arch origin, all of which presented as recurrent neck infection mainly on the left side. A retrospective review of 18 cases of third and fourth arch fistulae treated at JIPMER from 2005 to 2010. This study includes 18 patients with PSF diagnosed by the existence of fistulous tract radiologically and intraoperatively with pathological correlation. Neck exploration with excision of tract and left hemithyroidectomy was performed in all cases. The patients consisted of 7 males and 11 females, and the ages ranged from 3 to 15 years. All of them presented with recurrent episodes of neck infection. Investigations performed include computed tomography (CT) fistulography, barium swallow and ultrasound which were useful in delineating pyriform sinus fistulous tract preoperatively. All cases were on the left side and the fistula was identified by barium swallow in 14 cases (80%), while intraoperative and pathologic confirmation of the tract was possible in all cases (100%). Neck exploration with an emphasis on complete exposure of the recurrent laryngeal nerve and exposure of the pyriform sinus opening to facilitate complete fistulous tract excision with left hemithyroidectomy was successful in all patients. A follow up period of 1-3 years showed no recurrence. Recurrent neck infection in a child should alert the physician to the possibility of an underlying pyriform sinus fistula of branchial origin and CT fistulography should be performed after the resolution of the neck infection to delineate the tract anatomically. Crown Copyright © 2011. Published by Elsevier Ireland Ltd. All rights reserved.

Chronic traumatic encephalopathy in a national football league player: part II.

PubMed

Omalu, Bennet I; DeKosky, Steven T; Hamilton, Ronald L; Minster, Ryan L; Kamboh, M Ilyas; Shakir, Abdulrezak M; Wecht, Cyril H

2006-11-01

We present the second reported case of autopsy-confirmed chronic traumatic encephalopathy in a retired professional football player, with neuropathological features that differ from those of the first reported case. These differing pathological features underscore the need for further empirical elucidation of the pathoetiology and pathological cascades of long-term neurodegenerative sequelae of professional football. A psychological autopsy was performed with the next-of-kin and wife. Medical and hospital records were reviewed. A complete autopsy was accompanied by a comprehensive forensic neuropathological examination. Restriction fragment length polymorphism analysis was performed to determine apolipoprotein-E genotype. Pertinent premortem history included a 14-year span of play in organized football starting from the age of 18 years. The subject was diagnosed with severe major depressive disorder without psychotic features after retirement, attempted suicide multiple times and finally committed suicide 12 years after retirement by ingestion of ethylene glycol. Autopsy revealed cardiomegaly, mild to moderate coronary artery disease, and evidence of acute ethylene glycol overdose. The brain showed no atrophy, a cavum septi pellucidi was present, and the substantia nigra showed mild pallor. The hippocampus and cerebellum were not atrophic. Amyloid plaques, cerebral amyloid angiopathy, and Lewy bodies were completely absent. Sparse to frequent tau-positive neurofibrillary tangles and neuropil threads were present in all regions of the brain. Tufted and thorn astrocytes, as well as astrocytic plaques, were absent. The apolipoprotein-E genotype was E3/E4. Our first and second cases both had long careers without multiple recorded concussions. Both manifested Major Depressive Disorder after retirement. Amyloid plaques were present in the first case and completely absent in the second case. Both cases exhibited neurofibrillary tangles, neuropil threads, and coronary atherosclerotic disease. Apolipoprotein-E4 genotypes were different. Reasons for the contrasting features in these two cases are not clear. Further studies are needed to identify and define the neuropathological cascades of chronic traumatic encephalopathy in football players, which may form the basis for prophylaxis and therapeutics.

[Relationship between patent foramen ovale and cryptogenic stroke in a retrospective hospital-based study].

PubMed

Böjti, Péter; Bartha, Noémi Eszter; May, Zsolt; Bereczki, Dániel; Fülöp, Szilvia; Szakács, Zoltán; Szilágyi, Géza

2018-05-30

After routine workup, 23-25% of ischemic strokes etiology remains unknown, i.e. cryptogenic. However, according to international results pathogenic patent foramen ovale (PFO) reveals in 25% of these cases. Aim of our retrospective study to prove the substantial etiological role of PFO-related stroke (PFO-RS) in cryptogenic strokes (CS), and to identify age related differences in stroke etiology. All new ischemic strokes of 2014-2015 were classified by ASCOD (Atherosclerosis, Small-vessel disease, Cardiac pathology, Other, Dissection) phenotyping. CS was defined when the etiology was unknown. With the help of special ultrasound techniques and RoPE (Risk of Paradoxical Embolism) score the portion of PFO-RS were determined in the examined CS population. Moreover, etiological distribution and differences between age groups (<40, 40-60, >60 years) were described. During the examined period, 8.12% of 985 new ischemic strokes were categorized as CS. 41.38% of examined CS were found to be PFO-related. PFO-RS were considerably more frequent in the younger age groups than in the older age groups. The probability of appearance of PFO-RS were significantly higher in younger age than in case of age independency. Our results verify the substantial etiological role of PFO-RS in CS, and confirm the essential role of contrast enhanced functional transcranial Doppler in the routine diagnostic workup. Age related differences in stroke etiology were found to be statistically significant (p=0.000, df=14), in which small-vessel disease, cardiac pathology, dissection, other pathologies, CS and PFO-RS were contributed significantly. Based on our results, till in young age rare etiologies are typical, while in older age classical etiologies are mainly characteristic.

The Role of Magnetic Resonance Imaging in the Investigation and Management of Invasive Lobular Carcinoma-A 3-Year Retrospective Study in Two District General Hospitals.

PubMed

Derias, Mina; Subramanian, Ashok; Allan, Simon; Shah, Elizabeth; Teraifi, Hassan El; Howlett, David

2016-07-01

Invasive lobular carcinoma (ILC) accounts for 5-15% of breast cancers. In comparison to other types of breast cancer, ILC is more likely to be associated with multifocal and contralateral breast involvement as well as a tendency to a diffuse infiltrative growth pattern which can represent a diagnostic challenge. The National Institute of Clinical Excellence guidelines in 2009 recommended the use of magnetic resonance imaging (MRI) in the preoperative assessment of ILC. This study aims to assess compliance with the guidelines in two District General Hospitals and the utility of MRI in the investigation of ILC. All cases of ILC between 2011 and 2013 were retrospectively identified from the pathology database and their breast imaging findings, pathology report, and operative intervention were reviewed. A total of 126 patients were identified with ILC, of these 46 had MRI preoperatively (36.5%). MRI upgraded mammography/ultrasound diagnoses in 10 patients (21.7%). MRI showed multicentric unilateral disease in 17 patients (37.0%) occult on ultrasound/mammogram, with these patients undergoing mastectomy and 16/17 (94.1%) confirmed multifocality on pathology. MRI showed a contralateral lesion in 9 patients (19.6%), four (8.7%) of which were malignant and had bilateral surgery, and five (10.9%) were benign on further imaging/biopsy. MRI also downgraded three patients (6.5%) to unifocal disease with reported multifocal appearances on mammography/ultrasound, and these patients underwent breast-conserving surgery. MRI adds significant additional information to mammograms/ultrasound in ILC and should be undertaken in all such cases preoperatively assuming no contraindication. © 2016 Wiley Periodicals, Inc.

Amyloidosis involving the respiratory system: 5-year's experience of a multi-disciplinary group's activity.

PubMed

Scala, Raffaele; Maccari, Uberto; Madioni, Chiara; Venezia, Duccio; La Magra, Lidia Calogera

2015-01-01

Amyloidosis may involve the respiratory system with different clinical-radiological-functional patterns which are not always easy to be recognized. A good level of knowledge of the disease, an active integration of the pulmonologist within a multidisciplinary setting and a high level of clinical suspicion are necessary for an early diagnosis of respiratory amyloidosis. The aim of this retrospective study was to evaluate the number and the patterns of amyloidosis involving the respiratory system. We searched the cases of amyloidosis among patients attending the multidisciplinary rare and diffuse lung disease outpatients' clinic of Pulmonology Unit of the Hospital of Arezzo from 2007 to 2012. Among the 298 patients evaluated during the study period, we identified three cases of amyloidosis with involvement of the respiratory system, associated or not with other extra-thoracic localizations, whose diagnosis was histo-pathologically confirmed after the pulmonologist, the radiologist, and the pathologist evaluation. Our experience of a multidisciplinary team confirms that intra-thoracic amyloidosis is an uncommon disorder, representing 1.0% of the cases of rare and diffuse lung diseases referred to our center. The diagnosis of the disease is not always easy and quick as the amyloidosis may involve different parts of the respiratory system (airways, pleura, parenchyma). It is therefore recommended to remind this orphan disease in the differential diagnosis of the wide clinical scenarios the pulmonologist may intercept in clinical practice.

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

PubMed Central

Gerth-Kahlert, Christina; Williamson, Kathleen; Ansari, Morad; Rainger, Jacqueline K; Hingst, Volker; Zimmermann, Theodor; Tech, Stefani; Guthoff, Rudolf F; van Heyningen, Veronica; FitzPatrick, David R

2013-01-01

Clinical evaluation and mutation analysis was performed in 51 consecutive probands with severe eye malformations – anophthalmia and/or severe microphthalmia – seen in a single specialist ophthalmology center. The mutation analysis consisted of bidirectional sequencing of the coding regions of SOX2, OTX2, PAX6 (paired domain), STRA6, BMP4, SMOC1, FOXE3, and RAX, and genome-wide array-based copy number assessment. Fifteen (29.4%) of the 51 probands had likely causative mutations affecting SOX2 (9/51), OTX2 (5/51), and STRA6 (1/51). Of the cases with bilateral anophthalmia, 9/12 (75%) were found to be mutation positive. Three of these mutations were large genomic deletions encompassing SOX2 (one case) or OTX2 (two cases). Familial inheritance of three intragenic, plausibly pathogenic, and heterozygous mutations was observed. An unaffected carrier parent of an affected child with an identified OTX2 mutation confirmed the previously reported nonpenetrance for this disorder. Two families with SOX2 mutations demonstrated a parent and child both with significant but highly variable eye malformations. Heterozygous loss-of-function mutations in SOX2 and OTX2 are the most common genetic pathology associated with severe eye malformations and bi-allelic loss-of-function in STRA6 is confirmed as an emerging cause of nonsyndromal eye malformations. PMID:24498598

Amyloidosis involving the respiratory system: 5-year's experience of a multi-disciplinary group's activity

PubMed Central

Scala, Raffaele; Maccari, Uberto; Madioni, Chiara; Venezia, Duccio; La Magra, Lidia Calogera

2015-01-01

Amyloidosis may involve the respiratory system with different clinical-radiological-functional patterns which are not always easy to be recognized. A good level of knowledge of the disease, an active integration of the pulmonologist within a multidisciplinary setting and a high level of clinical suspicion are necessary for an early diagnosis of respiratory amyloidosis. The aim of this retrospective study was to evaluate the number and the patterns of amyloidosis involving the respiratory system. We searched the cases of amyloidosis among patients attending the multidisciplinary rare and diffuse lung disease outpatients' clinic of Pulmonology Unit of the Hospital of Arezzo from 2007 to 2012. Among the 298 patients evaluated during the study period, we identified three cases of amyloidosis with involvement of the respiratory system, associated or not with other extra-thoracic localizations, whose diagnosis was histo-pathologically confirmed after the pulmonologist, the radiologist, and the pathologist evaluation. Our experience of a multidisciplinary team confirms that intra-thoracic amyloidosis is an uncommon disorder, representing 1.0% of the cases of rare and diffuse lung diseases referred to our center. The diagnosis of the disease is not always easy and quick as the amyloidosis may involve different parts of the respiratory system (airways, pleura, parenchyma). It is therefore recommended to remind this orphan disease in the differential diagnosis of the wide clinical scenarios the pulmonologist may intercept in clinical practice. PMID:26229565

Impact of pathologic diagnosis of internal mammary lymph node metastasis in clinical N2b and N3b breast cancer patients.

PubMed

Joo, Ji Hyeon; Kim, Su Ssan; Ahn, Seung-Do; Choi, Eun Kyung; Jung, Jin Hong; Jeong, Yuri; Ahn, Sei Hyun; Son, Byung Ho; Lee, Jong Won; Kim, Hee Jung; Go, Beom Seok; Kim, Hak Hee; Cha, Joo Hee; Shin, Hee Jung; Chae, Eun Young

2017-11-01

To analyze the prognostic role of pathologic confirmation of internal mammary lymph nodes (IMNs) for breast cancer patients who received neoadjuvant chemotherapy. Of the patients who were treated with neoadjuvant chemotherapy, surgery, and radiation therapy between 2009 and 2013, 114 women had suspicious IMNs and FNAB was attempted. Clinical IMN metastasis was diagnosed by 18F-FDG PET/CT positivity or pathologic confirmation (N = 70). Patients were divided into the FNAB(+) or FNAB(-) IMN group. The pathologic confirmation rate was 57% (40 of 70 patients). Rates were 74% in US-positive, 70% in MRI-positive, and 55% in PET-positive patients. Nodal stage was cN2b (6%) or cN3b (94%). Five-year progression-free survival (PFS) was significantly worse in patients with FNAB(+) IMN metastasis than FNAB(-) IMN metastasis (61% vs. 87%, P = 0.03). FNAB(+) IMN patients showed worse distant metastasis and regional recurrence-free survival without statistical significance (69% vs. 86%, P = 0.06, and 81% vs. 96%, P = 0.06). With median follow-up of 50.5 months (13.0-97.0 months), overall survival at 5 years was 77%, and PFS was 72%. Patients with FNAB-proven IMN metastasis had worse treatment outcomes compared to patients with clinically diagnosed IMN metastasis in cN2b/N3b breast cancer.

Investigation of the usefulness of fluorescein sodium fluorescence in stereotactic brain biopsy.

PubMed

Thien, Ady; Han, Julian Xinguang; Kumar, Krishan; Ng, Yew Poh; Rao, Jai Prashanth; Ng, Wai Hoe; King, Nicolas Kon Kam

2018-02-01

Intraoperative frozen section assessment, to confirm acquisition of pathological tissues, is used in stereotactic brain biopsy to minimise sampling errors. Limitations include the dependence on dedicated neuro-oncology pathologists and an increase in operative duration. We investigated the use of intraoperative fluorescein sodium, and compared it to frozen section assessment, for confirming pathological tissue samples in the stereotactic biopsy of gadolinium-contrast-enhancing brain lesions. This prospective observational study consisted of 18 consecutive patients (12 men; median age, 63 years) who underwent stereotactic biopsy of gadolinium-contrast-enhancing brain lesions with intravenous fluorescein sodium administration. Twenty-three specimens were obtained and examined for the presence of fluorescence using a microscope with fluorescence visualisation capability. Positive and negative predictive values were calculated based on the fluorescence status of the biopsy samples with its corresponding intraoperative frozen section and definitive histopathological diagnosis. Nineteen specimens (83%) were fluorescent and four (17%) were non-fluorescent. All 19 fluorescent specimens were confirmed to be lesional on intraoperative frozen section assessment and were suitable for histopathological diagnosis. Three of the non-fluorescent specimens were confirmed to be lesional on intraoperative frozen section assessment. One non-fluorescent specimen was non-diagnostic on frozen section and histological assessments. The positive predictive value was 100% and the negative predictive value was 25%. Fluorescein sodium fluorescence is as accurate as frozen section assessment in confirming sampling of pathological tissue in the stereotactic biopsy of gadolinium-contrast-enhancing brain lesions. Fluorescein sodium fluorescence-guided stereotactic biopsy is a useful addition to the neurosurgical armamentarium.

Association of Glucocerebrosidase Mutations With Dementia With Lewy Bodies

PubMed Central

Clark, Lorraine N.; Kartsaklis, Lykourgos A.; Wolf Gilbert, Rebecca; Dorado, Beatriz; Ross, Barbara M.; Kisselev, Sergey; Verbitsky, Miguel; Mejia-Santana, Helen; Cote, Lucien J.; Andrews, Howard; Vonsattel, Jean-Paul; Fahn, Stanley; Mayeux, Richard; Honig, Lawrence S.; Marder, Karen

2009-01-01

Background Mutations in the glucocerebrosidase (GBA) gene are associated with Lewy body (LB) disorders. Objective To determine the relationship of GBA mutations and APOE4 genotype to LB and Alzheimer disease (AD) pathological findings. Design Case-control study. Setting Academic research. Participants The 187 subjects included patients with primary neuropathological diagnoses of LB disorders with or without AD changes (95 cases), randomly selected patients with AD (without significant LB pathological findings; 60 cases), and controls with neither LB nor AD pathological findings (32 cases). Main Outcome Measures GBA mutation status, APOE4 genotype, LB pathological findings (assessed according to the third report of the Dementia With Lewy Body Consortium), and Alzheimer plaque and tangle pathological findings (rated by criteria of Braak and Braak, the Consortium to Establish a Registry for Alzheimer Disease, and the National Institute on Aging–Reagan Institute). Results GBA mutations were found in 18% (34 of 187) of all subjects, including 28% (27 of 95) of those with primary LB pathological findings compared with 10% (6 of 60) of those with AD pathological findings and 3% (1 of 32) of those without AD or LB pathological findings (P=.001). GBA mutation status was significantly associated with the presence of cortical LBs (odds ratio, 6.48; 95% confidence interval, 2.45–17.16; P<.001), after adjusting for sex, age at death, and presence of APOE4. GBA mutation carriers were significantly less likely to meet AD pathological diagnostic (National Institute on Aging–Reagan Institute intermediate or high likelihood) criteria (odds ratio, 0.35; 95% confidence interval, 0.15–0.79; P=.01) after adjustment for sex, age at death, and APOE4. Conclusion GBA mutations may be associated with pathologically “purer” LB disorders, characterized by more extensive (cortical) LB, and less severe AD pathological findings and may be a useful marker for LB disorders. PMID:19433657

Geographical evaluation of Neuroparacoccidioidomycosis and Paracoccidioidomycosis in Southern Brazil.

PubMed

de Almeida, Sergio Monteiro; Salvador, Gabriel L O; Roza, Thiago Henrique; Izycki, Luís Felipe; Dos Santos, Isaias; Aragão, Afonso; Kulik, Amanda; Muro, Marisol; Torres, Luis Fernando Bleggi; de Noronha, Lucia Helena

2018-04-17

Paracoccidioidomycosis (PCM) is the most prevalent systemic mycosis among immunocompetent patients in Latin America. This study aimed to describe the expansion over time and the geographical distribution of confirmed Neuroparacoccidioidomycosis (NPCM) and PCM cases, and relate it to environmental characteristics such as climate, soil types, and coffee crops. This was a retrospective study of autopsy and biopsy reports between 1951 and 2014 from the Medical Pathology Section of the Hospital de Clinicas, UFPR, Curitiba, Southern Brazil. PCM was predominant in male agricultural workers. PCM cases predominated in areas with subtropical climate with hot summers in North West Parana state. NPCM cases were distributed statewide more frequent in rural than metropolitan area. There was no association with climate, soil type, or coffee crop culture. Most of the PCM cases were in the metropolitan area of the capital, chiefly due to migration fluxes. Even though the history is predominantly agricultural activities. PCM cases were distributed mainly in the metropolitan area of the state capital, there was no association with climate and soil. NPCM cases were numerically more frequent in rural than metropolitan area. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Pathology Imagebase-a reference image database for standardization of pathology.

PubMed

Egevad, Lars; Cheville, John; Evans, Andrew J; Hörnblad, Jonas; Kench, James G; Kristiansen, Glen; Leite, Katia R M; Magi-Galluzzi, Cristina; Pan, Chin-Chen; Samaratunga, Hemamali; Srigley, John R; True, Lawrence; Zhou, Ming; Clements, Mark; Delahunt, Brett

2017-11-01

Despite efforts to standardize histopathology practice through the development of guidelines, the interpretation of morphology is still hampered by subjectivity. We here describe Pathology Imagebase, a novel mechanism for establishing an international standard for the interpretation of pathology specimens. The International Society of Urological Pathology (ISUP) established a reference image database through the input of experts in the field. Three panels were formed, one each for prostate, urinary bladder and renal pathology, consisting of 24 international experts. Each of the panel members uploaded microphotographs of cases into a non-public database. The remaining 23 experts were asked to vote from a multiple-choice menu. Prior to and while voting, panel members were unable to access the results of voting by the other experts. When a consensus level of at least two-thirds or 16 votes was reached, cases were automatically transferred to the main database. Consensus was reached in a total of 287 cases across five projects on the grading of prostate, bladder and renal cancer and the classification of renal tumours and flat lesions of the bladder. The full database is available to all ISUP members at www.isupweb.org. Non-members may access a selected number of cases. It is anticipated that the database will assist pathologists in calibrating their grading, and will also promote consistency in the diagnosis of difficult cases. © 2017 John Wiley & Sons Ltd.

Pulmonary and central nervous system pathology in fatal cases of hand foot and mouth disease caused by enterovirus A71 infection.

PubMed

Wang, Zijun; Nicholls, John M; Liu, Fengfeng; Wang, Joshua; Feng, Zijian; Liu, Dongge; Sun, Yanni; Zhou, Cheng; Li, Yunqian; Li, Hai; Qi, Shunxiang; Huang, Xueyong; Sui, Jilin; Liao, Qiaohong; Peiris, Malik; Yu, Hongjie; Wang, Yu

2016-04-01

In the past 17 years, neurological disease associated with enterovirus A71 (EV-A71) has increased dramatically in the Asia-Pacific region with a high fatality rate in young infants, often due to pulmonary oedema, however the mechanism of this oedema remains obscure. We analysed the brainstem, heart and lungs of 15 fatal cases of confirmed EV-A71 infection in order to understand the pathophysiological mechanism of death and pulmonary oedema. In keeping with other case studies, the main cause of death was neurogenic pulmonary oedema. In the brainstem, 11 cases showed inflammation and all cases showed parenchymal inflammation with seven cases showing moderate or severe clasmatodendrosis. No viral antigen was detected in sections of the brainstem in any of the cases. All fatal cases showed evidence of pulmonary oedema; however, there was absence of direct pulmonary viral damage or myocarditis-induced damage and EV-A71 viral antigen staining was negative. Though there was no increase in staining for Na/K-ATPase, 11 of the 15 cases showed a marked reduction in aquaporin-4 staining in the lung, and this reduction may contribute to the development of fatal pulmonary oedema. Copyright © 2016. Published by Elsevier B.V.

Association between macroscopic appearance of liver lesions and liver histology in dogs with splenic hemangiosarcoma: 79 cases (2004-2009).

PubMed

Clendaniel, Daphne C; Sivacolundhu, Ramesh K; Sorenmo, Karin U; Donovan, Taryn A; Turner, Avenelle; Arteaga, Theresa; Bergman, Philip J

2014-01-01

Medical records for 79 dogs with confirmed splenic hemangiosarcoma (HSA) following splenectomy were reviewed for information regarding either the presence or absence of macroscopic liver lesions and the histopathological characteristics of the liver. Only 29 of 58 dogs (50%) with grossly abnormal livers had HSA metastasis. No dogs with grossly normal livers had metastasis detected on liver pathology. Gross lesions in the liver such as multiple nodules, dark-colored nodules, and active bleeding nodules were highly associated with malignancy. For the dogs in this study, performing biopsy in a grossly normal liver was a low-yield procedure in dogs with splenic HSA.

[Oral involvement in lymphomatoid papulosis].

PubMed

Serra-Guillén, C; Requena, C; Alfaro, A; Hueso, L; Sanmartín, O; Llombart, B; Nagore, E; Botella-Estrada, R; Martorell-Calatayud, A; Guillén, C

2007-05-01

Lymphomatoid papulosis is a cutaneous lymphoma with an indolent clinical behaviour characterized by chronic development of recurrent, self-limited lesions appearing as necrotic papules and with a pathology compatible with T cell lymphoma. Mucosal involvement by lymphomatoid papulosis is very rare but has been reported in the literature. It usually appears as ulcers in patients previously diagnosed of lymphomatoid papulosis. From a histological perspective it is characterized by an infiltrate of CD 30 positive atypical lymphocytes together with a mixed inflammatory infiltrate of eosinophils, neutrophils, histiocytes and plasma cells. We report the case of a man previously diagnosed of lymphomatoid papulosis that developed two ulcerated lesions in the tongue whose biopsy confirmed the diagnosis of oral involvement by lymphomatoid papulosis.

Primary Pulmonary Ewing's Sarcoma: Rare Cause of Superior Vena Cava Syndrome in Children.

PubMed

Mehra, Shibani; Atwal, Swapndeep Singh; Garga, Umesh Chandra

2014-08-01

Ewing's sarcoma is a common malignant bone tumour presenting in children and young adults. Rarely extra- skeletal soft tissues and visceral organs can also be the site of origin of Ewing's sarcoma. Primary pulmonary Ewing's sarcoma is an extremely rare malignancy which occurs in the paediatric population. We report an unusual case of primary pulmonary Ewing's sarcoma in a nine year old girl who presented with features of superior vena cava syndrome in the emergency department. The diagnosis was confirmed pathologically both by light microscopy and immunohistochemistry. The patient was put on chemotherapy and surgery was planned but the patient expired within three days of starting chemotherapy.

Synchronous occurrence of breast cancer and pulmonary sclerosing hemangioma: management and review of the literature.

PubMed

Salemis, Nikolaos S; Seretis, Charalampos; Nakos, Georgios; Kantounakis, Ioannis; Stoumpos, Charalampos; Spiliopoulos, Kyriakos

2013-01-01

Pulmonary sclerosing hemangioma (PSH) is a rare tumor accounting for 0.2-1% of all primary lung tumors. Simultaneous occurrence of PSH with breast cancer has very rarely been reported in the literature. We describe here a case of simultaneous occurrence of PSH with breast cancer. A pathological diagnosis of PSH was confirmed by computed tomography (CT)-guided biopsy. Due to the patient's poor performance status and the benign nature of PSH, surgical excision was not considered and the patient was managed conservatively with regular follow-up. Although surgical excision is the preferred treatment for PSH, conservative management may be a reasonable option in carefully selected patients.