Treatment initiation among persons diagnosed with drug resistant tuberculosis in Johannesburg, South Africa

PubMed Central

Schnippel, Kathryn; Govathson, Caroline; Sineke, Tembeka; Black, Andrew; Long, Lawrence; Berhanu, Rebecca; Rosen, Sydney

2017-01-01

Background In South Africa, roughly half of the drug-resistant TB cases diagnosed are reported to have been started on treatment. We determined the proportion of persons diagnosed with rifampicin resistant (RR-) TB who initiated treatment in Johannesburg after the introduction of decentralized RR-TB care in 2011. Methods We retrospectively matched adult patients diagnosed with laboratory-confirmed RR-TB in Johannesburg from 07/2011-06/2012 with records of patients initiating RR-TB treatment at one of the city’s four public sector treatment sites (one centralized, three decentralized). Patients were followed from date of diagnosis until the earliest of RR-TB treatment initiation, death, or 6 months’ follow-up. We report diagnostic methods and outcomes, proportions initiating treatment, and median time from diagnosis to treatment initiation. Results 594 patients were enrolled (median age 34 (IQR 29–42), 287 (48.3%) female). Diagnosis was by GenoType MTBDRplus (Hain-Life-Science) line probe assay (LPA) (281, 47.3%), Xpert MTB/RIF (Cepheid) (258, 43.4%), or phenotypic drug susceptibility testing (DST) (30, 5.1%) with 25 (4.2%) missing a diagnosis method. 320 patients (53.8%) had multi-drug resistant TB, 158 (26.6%) rifampicin resistant TB by Xpert MTB/RIF, 102 (17.2%) rifampicin mono-resistance, and 14 (2.4%) extensively drug-resistant TB. 256/594 (43.0%) patients initiated treatment, representing 70.7% of those who were referred for treatment (362/594). 338/594 patients (57.0%) did not initiate treatment, including 104 (17.5%) who died before treatment was started. The median time from sputum collection to treatment initiation was 33 days (IQR 12–52). Conclusion Despite decentralized RR-TB treatment, fewer than half the patients diagnosed in Johannesburg initiated appropriate treatment. Offering treatment at decentralized sites alone is not sufficient; improvements in linking patients diagnosed with RR-TB to effective treatment is essential. PMID:28746344

Growth Restart/Recovery Lines involving the vertebral body: a rare, incidental finding and diagnostic challenge in two patients

PubMed Central

Sajko, Sandy; Stuber, Kent; Wessely, Michelle

2011-01-01

Objective To present the phenomenon of growth restart lines and create awareness of the possible differential diagnoses. Clinical Features Two case reports outlining the presentation of growth restart lines found in the vertebrae of trampolinists. Emphasis in each case is placed on correlating the patient history with radiographic findings. Intervention and Outcome In both cases a conservative chiropractic treatment plan was initiated once the differential diagnoses could be ruled out. Conclusion Although the range of etiologies of growth restart lines is extensive, these case reports illustrate the importance of a comprehensive case history when presented with the radiographic finding of growth restart lines. PMID:22131568

Florid cemento-osseous dysplasia: a report of two cases seen at the university college hospital ibadan.

PubMed

Lawal, A O; Adisa, A O; Lasisi, T J

2011-06-01

Florid cemento-osseous dysplasia (FCOD) is commonly seen in black women, but few cases have been reported in sub-Saharan Africa. This article presents two cases of FCOD seen at the University College Hospital Ibadan. Two women aged 70 and 60 years were initially diagnosed as chronic osteomyelitis but both were eventually diagnosed as florid cementoosseous dysplasia after radiological examination by orthopanthomogram. Diagnosis of florid cemento-osseous dysplasia is possible by clinical examination and the distinct radiological presentation, especially on orthopanthomogram and a biopsy may not be required.

FLORID CEMENTO-OSSEOUS DYSPLASIA: A REPORT OF TWO CASES SEEN AT THE UNIVERSITY COLLEGE HOSPITAL IBADAN

PubMed Central

Lawal, A.O.; Adisa, A.O.; Lasisi, T.J.

2011-01-01

SUMMARY Florid cemento-osseous dysplasia (FCOD) is commonly seen in black women, but few cases have been reported in sub-Saharan Africa. This article presents two cases of FCOD seen at the University College Hospital Ibadan. Two women aged 70 and 60 years were initially diagnosed as chronic osteomyelitis but both were eventually diagnosed as florid cementoosseous dysplasia after radiological examination by orthopanthomogram. Diagnosis of florid cemento-osseous dysplasia is possible by clinical examination and the distinct radiological presentation, especially on orthopanthomogram and a biopsy may not be required. PMID:25161487

A multidisciplinary audit of clinical coding accuracy in otolaryngology: financial, managerial and clinical governance considerations under payment-by-results.

PubMed

Nouraei, S A R; O'Hanlon, S; Butler, C R; Hadovsky, A; Donald, E; Benjamin, E; Sandhu, G S

2009-02-01

To audit the accuracy of otolaryngology clinical coding and identify ways of improving it. Prospective multidisciplinary audit, using the 'national standard clinical coding audit' methodology supplemented by 'double-reading and arbitration'. Teaching-hospital otolaryngology and clinical coding departments. Otolaryngology inpatient and day-surgery cases. Concordance between initial coding performed by a coder (first cycle) and final coding by a clinician-coder multidisciplinary team (MDT; second cycle) for primary and secondary diagnoses and procedures, and Health Resource Groupings (HRG) assignment. 1250 randomly-selected cases were studied. Coding errors occurred in 24.1% of cases (301/1250). The clinician-coder MDT reassigned 48 primary diagnoses and 186 primary procedures and identified a further 209 initially-missed secondary diagnoses and procedures. In 203 cases, patient's initial HRG changed. Incorrect coding caused an average revenue loss of 174.90 pounds per patient (14.7%) of which 60% of the total income variance was due to miscoding of a eight highly-complex head and neck cancer cases. The 'HRG drift' created the appearance of disproportionate resource utilisation when treating 'simple' cases. At our institution the total cost of maintaining a clinician-coder MDT was 4.8 times lower than the income regained through the double-reading process. This large audit of otolaryngology practice identifies a large degree of error in coding on discharge. This leads to significant loss of departmental revenue, and given that the same data is used for benchmarking and for making decisions about resource allocation, it distorts the picture of clinical practice. These can be rectified through implementing a cost-effective clinician-coder double-reading multidisciplinary team as part of a data-assurance clinical governance framework which we recommend should be established in hospitals.

Liquid-based cytology for primary cervical cancer screening: a multi-centre study

PubMed Central

Monsonego, J; Autillo-Touati, A; Bergeron, C; Dachez, R; Liaras, J; Saurel, J; Zerat, L; Chatelain, P; Mottot, C

2001-01-01

The aim of this six-centre, split-sample study was to compare ThinPrep fluid-based cytology to the conventional Papanicolaou smear. Six cytopathology laboratories and 35 gynaecologists participated. 5428 patients met the inclusion criteria (age > 18 years old, intact cervix, informed consent). Each cervical sample was used first to prepare a conventional Pap smear, then the sampling device was rinsed into a PreservCyt vial, and a ThinPrep slide was made. Screening of slide pairs was blinded (n = 5428). All non-negative concordant cases (n = 101), all non-concordant cases (n = 206), and a 5% random sample of concordant negative cases (n = 272) underwent review by one independent pathologist then by the panel of 6 investigators. Initial (blinded) screening results for ThinPrep and conventional smears were correlated. Initial diagnoses were correlated with consensus cytological diagnoses. Differences in disease detection were evaluated using McNemar's test. On initial screening, 29% more ASCUS cases and 39% more low-grade squamous intraepithelial lesions (LSIL) and more severe lesions (LSIL+) were detected on the ThinPrep slides than on the conventional smears (P = 0.001), including 50% more LSIL and 18% more high-grade SIL (HSIL). The ASCUS:SIL ratio was lower for the ThinPrep method (115:132 = 0.87:1) than for the conventional smear method (89:94 = 0.95:1). The same trend was observed for the ASCUS/AGUS:LSIL ratio. Independent and consensus review confirmed 145 LSIL+ diagnoses; of these, 18% more had been detected initially on the ThinPrep slides than on the conventional smears (P = 0.041). The ThinPrep Pap Test is more accurate than the conventional Pap test and has the potential to optimize the effectiveness of primary cervical cancer screening. © 2001 Cancer Research Campaign http://www.bjcancer.com PMID:11161401

Patterns of initial management of node-negative breast cancer in two Canadian provinces

PubMed Central

Goel, V; Olivotto, I; Hislop, T G; Sawka, C; Coldman, A; Holowaty, E J

1997-01-01

OBJECTIVE: To describe the patterns of initial management of node-negative breast cancer in Ontario and British Columbia and to compare the characteristics of the patients and tumours and of the physicians and hospitals involved in management. DESIGN: Retrospective, population-based, cohort study. PARTICIPANTS: All 942 newly diagnosed cases of node-negative breast cancer in 1991 in British Columbia and a random sample of 938 newly diagnosed cases in Ontario in the same year. OUTCOME MEASURES: Number and proportion of patients with newly diagnosed node-negative breast cancer who received breast-conserving surgery (BCS) or mastectomy and who received radiation therapy after BCS. RESULTS: BCS was used in 413 cases (43.8%) in British Columbia and in 634 cases (67.6%) in Ontario (p < 0.001). After BCS, radiation therapy was received by 378 patients (91.5% of those who had undergone BCS) in British Columbia and 479 patients (75.6% of those who had undergone BCS) in Ontario (p < 0.001). In both provinces, lower patient age, smaller tumour size, a noncentral unifocal tumour, absence of extensive ductal carcinoma in situ and initial surgery by a surgeon with an academic affiliation were associated with greater use of BCS. Lower patient age and larger tumour size were associated with greater use of radiation therapy after BCS in both provinces. CONCLUSION: Patient, tumour and physician factors are associated with the choice of initial management of breast cancer in these two Canadian provinces. However, the differences in management between the two provinces are only partly explained by these factors. Other possible explanations, such as the presence of provincial guidelines, differences in the organization of the health care system or differences in patient preference, require further research. PMID:9006561

Nephrogenic diabetes insipidus in initial stage of acute lymphoblastic leukemia and relapse after haploidentical hematopoietic stem-cell transplantation: A case report.

PubMed

Li, Dezhi; Liu, Qian; Feng, Zhifang; Zhang, Qi; Feng, Saran

2018-06-01

Nephrogenic diabetes insipidus (NDI) rarely presents in the initial stage of acute lymphoblastic leukemia (ALL) and relapse due to renal infiltration is also rare. A 19-year-old man presented with weakness, polydipsia, and polyuria for 1 month. NDI was diagnosed with insignificant response to a water deprivation test after stimulation with vasopressin injection. Bone marrow examination combined with immunophenotypic analysis, cerebrospinal cytology, and abdominal ultrasonography confirmed the diagnoses of precursor B cell ALL with renal infiltration. The patient accepted standardized combination chemotherapy and ultimately had sustained remission, and his polydipsia and polyuria disappeared after 3 days of treatment. The ALL relapsed 1 year later and he received haploidentical stem cell transplantation (haplo-SCT) from his father. One year later, he again developed NDI, with bilateral renal enlargement because of extramedullary relapse, leading to subsequent death. This case demonstrates unusual early renal involvement in ALL presenting with initial NDI. Interestingly, the NDI returned with the relapse of renal infiltration 1 year after haplo-SCT. This case suggests that NDI was probably secondary to renal leukemic infiltration.

Isolated tuberculous liver abscess in an immunocompetent adult patient: A case report and literature review.

PubMed

Chen, Tsung-Chia; Chou, Ling-Tai; Huang, Chen-Cheng; Lai, An-Bang; Wang, Jen-Hsien

2016-06-01

Tuberculous liver abscess is a rare disease entity even in endemic areas of Mycobacterium tuberculosis. It is usually accompanied by pulmonary tuberculosis or enteric tuberculosis. Further, an isolated tuberculous liver abscess is extremely rare. The disease is diagnosed by laparotomy or postmortem autopsy in most cases, and some authors adopted a 9-month antituberculosis regimen. We herein report a case of an isolated tuberculous liver abscess that initially manifested as persistent fever and general malaise, which was diagnosed by liver biopsy and treated successfully with a 6-month antituberculosis regimen and percutaneous abscess drainage. Copyright © 2013. Published by Elsevier B.V.

Lobomycosis: a therapeutic challenge*

PubMed Central

Araújo, Marcelo Grossi; Cirilo, Nathalie Silva; dos Santos, Soraya Neves Marques Barbosa; Aguilar, Claudemir Roberto; Guedes, Antonio Carlos Martins

2018-01-01

Lobomycosis or lacaziosis is a chronic granulomatous fungal infection caused by Lacazia loboi. Most cases are restricted to tropical regions. Transmission is believed to occur through traumatic inoculation in the skin, mainly in exposed areas. It is characterized by keloid-like nodules. There are only a few hundred cases reported. The differential diagnoses include many skin conditions, and treatment is difficult. The reported case, initially diagnosed as keloid, proved to be refractory to surgical treatment alone. It was subsequently approached with extensive surgery, cryotherapy every three months and a combination of itraconazole and clofazimine for two years. No signs of clinical and histopathological activity were detected during follow-up. PMID:29723380

Mandibular osteomyelitis in children mimicking juvenile recurrent parotitis.

PubMed

Saarinen, Riitta T; Kolho, Kaija-Leena; Kontio, Risto; Saat, Riste; Salo, Eeva; Pitkäranta, Anne

2011-06-01

To describe pediatric cases with mandibular osteomyelitis initially diagnosed and treated as juvenile recurrent parotitis. We reviewed the patient data of all our pediatric patients treated at Helsinki University Central Hospital, a tertiary care hospital, between 1998 and 2010 who had the initial diagnosis of recurrent parotitis which in fact was osteomyelitis. Over a period of 12 years, six children (aged 5-17 years, five girls) presented with mandibular osteomyelitis primarily diagnosed as recurrent parotitis. Diagnostic delay ranged from 1.5 months to 6.0 years before the final diagnosis of mandibular osteomyelitis confirmed in MRI. Of the six cases undergoing biopsies, bacterial culture showed Actinomyces or Streptococcus viridans in four cases. All patients received antimicrobial treatment. Two received hyperbaric oxygen therapy with no resolution of symptoms. Debridement was performed in these two cases as well, and in the second case persistent symptoms led to bisphosphonate treatment. Juvenile parotitis is in most cases a clinical diagnosis, and treatment is symptomatic. In contrast, mandibular osteomyelitis is a severe disease requiring lengthy treatment. Because symptoms of these two entities may mimic each other, unclear cases require MRI. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Herbal hepatotoxicity: suspected cases assessed for alternative causes.

PubMed

Teschke, Rolf; Schulze, Johannes; Schwarzenboeck, Alexander; Eickhoff, Axel; Frenzel, Christian

2013-09-01

Alternative explanations are common in suspected drug-induced liver injury (DILI) and account for up to 47.1% of analyzed cases. This raised the question of whether a similar frequency may prevail in cases of assumed herb-induced liver injury (HILI). We searched the Medline database for the following terms: herbs, herbal drugs, herbal dietary supplements, hepatotoxic herbs, herbal hepatotoxicity, and herb-induced liver injury. Additional terms specifically addressed single herbs and herbal products: black cohosh, Greater Celandine, green tea, Herbalife products, Hydroxycut, kava, and Pelargonium sidoides. We retrieved 23 published case series and regulatory assessments related to hepatotoxicity by herbs and herbal dietary supplements with alternative causes. The 23 publications comprised 573 cases of initially suspected HILI; alternative causes were evident in 278/573 cases (48.5%). Among them were hepatitis by various viruses (9.7%), autoimmune diseases (10.4%), nonalcoholic and alcoholic liver diseases (5.4%), liver injury by comedication (DILI and other HILI) (43.9%), and liver involvement in infectious diseases (4.7%). Biliary and pancreatic diseases were frequent alternative diagnoses (11.5%), raising therapeutic problems if specific treatment is withheld; pre-existing liver diseases including cirrhosis (9.7%) were additional confounding variables. Other diagnoses were rare, but possibly relevant for the individual patient. In 573 cases of initially assumed HILI, 48.5% showed alternative causes unrelated to the initially incriminated herb, herbal drug, or herbal dietary supplement, calling for thorough clinical evaluations and appropriate causality assessments in future cases of suspected HILI.

Clinical outcome of recurrent afebrile seizures in children with benign convulsions associated with mild gastroenteritis.

PubMed

Chen, Boman; Cheng, Min; Hong, Siqi; Liao, Shuang; Ma, Jiannan; Li, Tingsong; Jiang, Li

2018-05-30

To assess the clinical outcome and evolution of recurrent afebrile seizures in children initially diagnosed with benign convulsions associated with mild gastroenteritis (CwG). We reviewed and analyzed the medical records of 37 patients who were diagnosed as CwG at onset, followed by recurrent afebrile seizures and followed up for at least 24 months. The follow-up period ranged from 2 to 7 years (median, 40.1 months).Three patterns of recurrent afebrile seizures were recorded: afebrile seizures associated with gastrointestinal infection (AS-GI, n = 25), afebrile seizures associated with non-gastrointestinal infection (AS-nGI, n = 9), and unprovoked seizures (US, n = 3). Twenty eight patients (75.7%) had a second episode within 6 months after the first seizures. Five cases (13.5%) suffered three episodes of afebrile seizures. Seizure characteristics of the three patterns were similar, manifesting as clustered seizures in the majority. Focal epileptic activities in interictal EEG were found in 3 cases (9.4%) at onset, 10 cases (28.6%) at the second episode, respectively. Six patients were prescribed anti-epileptic drugs with apparently good responses. During at least 2 years' follow-up, all the cases showed normal psychomotor development. Only one patient was diagnosed with epilepsy. All the recurrent afebrile seizures initially diagnosed as CwG, irrespective of the kinds and frequency of relapses, showed favorable prognoses. CwG maybe falls within the category of situation-related seizures, rather than epilepsy. Copyright © 2018 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Inflammatory metastatic breast cancer with gallbladder metastasis: an incidental finding.

PubMed

Ebrahim, Hassan; Graham, David; Rice, David; Ribadeneyra, Michael; Thorner, Kim; Shipley, William; Wehmueller, Michael

2015-07-01

Breast cancer is the most frequently diagnosed cancer in women, with an estimated 231,840 new cases representing 14.0% of all new cancer cases in the United States in 2015. Early screening and modern techniques of imaging and diagnosis have led to a significant improvement in detecting early-stage breast cancers and to a decrease in the incidence of metastatic breast cancer (MBC). About 20%-30% of patients who are initially diagnosed with an early-stage, nonmetastatic breast cancer will subsequently develop a distant metastatic disease. Between 6%-10% of the new breast cancer cases present initially as stage IV, referred to as de novo MBC. The most common sites of breast cancer metastases are lymph nodes, chest wall, skeleton, lung, skin, and the central nervous system (CNS). Lobular carcinoma, in particular, may metastasize to the gastrointestinal tract, peritoneum, and retroperitoneum. Gallbladder metastasis from breast cancer is very rare, and only 15-20 cases have been reported in the literature. Most of those cases have been associated particularly with a lobular histology. We report an additional rare case of MBC to the gallbladder, but with a ductal histology. ©2015 Frontline Medical Communications.

Seizure as an initial presentation of human immunodeficiency virus: acute toxoplasmosis mimicking glioblastoma multiforme.

PubMed

Parekh, Parth; Boggs, Jody P; Silverberg, Marc; Marik, Paul

2013-11-14

We present a case of a 46-year-old man with a history significant only for hypertension and depression that presented with a new onset seizure resulting from a right parietal lobe mass. Further evaluation determined the parietal mass to be central nervous system toxoplasmosis, which was the initial presentation of his underlying HIV/AIDS. This case provided a diagnostic challenge and demonstrates the importance of a thorough evaluation as it pertains to a newly diagnosed brain lesion.

Omental fibromatosis treated by laparoscopic wide surgical resection.

PubMed

Martin, David; Muradbegovic, Mirza; Andrejevic-Blant, Snezana; Petermann, David; Di Mare, Luca

2018-02-01

The current report presents a case of an omental fibromatosis discovered incidentally in a 46-year-old woman with no particular medical history and few symptoms. A surgical biopsy was performed initially, and microscopic examination revealed myofibroblastic proliferation. After additional immunohistochemical and molecular analyses, omental fibromatosis was diagnosed. Omental fibromatosis, also called intra-abdominal desmoid, is a rare and benign tumour but can be locally aggressive. Majority of cases are asymptomatic, and difficult to diagnose based on clinical presentation and radiological investigation. Final diagnosis is usually made on histopathology and immunohistochemistry studies. Surgical wide excision is currently the treatment of choice.

The Role of Hemoglobin Laboratory Test Results for the Detection of Upper Gastrointestinal Bleeding Outcomes Resulting from the Use of Medications in Observational Studies.

PubMed

Patorno, Elisabetta; Gagne, Joshua J; Lu, Christine Y; Haynes, Kevin; Sterrett, Andrew T; Roy, Jason; Wang, Xingmei; Raebel, Marsha A

2017-01-01

The identification of upper gastrointestinal (UGI) bleeding and perforated ulcers in claims data typically relies on inpatient diagnoses. The use of hemoglobin laboratory results might increase the detection of UGI events that do not lead to hospitalization. Our objective was to evaluate whether hemoglobin results increase UGI outcome identification in electronic databases, using non-steroidal anti-inflammatory drugs (NSAIDs) as a test case. From three data partner sites within the Mini-Sentinel Distributed Database, we identified NSAID initiators aged ≥18 years between 2008 and 2013. Numbers of events and risks within 30 days after NSAID initiation were calculated for four mutually exclusive outcomes: (1) inpatient UGI diagnosis of bleeding or gastric ulcer (standard claims-based definition without laboratory results); (2) non-inpatient UGI diagnosis AND ≥3 g/dl hemoglobin decrease; (3) ≥3 g/dl hemoglobin decrease without UGI diagnosis in any clinical setting; (4) non-inpatient UGI diagnosis, without ≥3 g/dl hemoglobin decrease. We identified 2,289,772 NSAID initiators across three sites. Overall, 45.3% had one or more hemoglobin result available within 365 days before or 30 days after NSAID initiation; only 6.8% had results before and after. Of 7637 potential outcomes identified, outcome 1 accounted for 21.7%, outcome 2 for 0.8%, outcome 3 for 34.3%, and outcome 4 for 43.3%. Potential cases identified by outcome 3 were largely not suggestive of UGI events. Outcomes 1, 2, and 4 had similar distributions of specific UGI diagnoses. Using available hemoglobin result values combined with non-inpatient UGI diagnoses identified few additional UGI cases. Non-inpatient UGI diagnostic codes may increase outcome detection but would require validation.

[Dissociative disorders and affective disorders].

PubMed

Montant, J; Adida, M; Belzeaux, R; Cermolacce, M; Pringuey, D; Da Fonseca, D; Azorin, J-M

2014-12-01

The phenomenology of dissociative disorders may be complex and sometimes confusing. We describe here two cases who were initially misdiagnosed. The first case concerned a 61 year-old woman, who was initially diagnosed as an isolated dissociative fugue and was actually suffering from severe major depressive episode. The second case concerned a 55 year-old man, who was suffering from type I bipolar disorder and polyvascular disease, and was initially diagnosed as dissociative fugue in a mooddestabilization context, while it was finally a stroke. Yet dissociative disorders as affective disorder comorbidity are relatively unknown. We made a review on this topic. Dissociative disorders are often studied through psycho-trauma issues. Litterature is rare on affective illness comorbid with dissociative disorders, but highlight the link between bipolar and dissociative disorders. The later comorbidity often refers to an early onset subtype with also comorbid panic and depersonalization-derealization disorder. Besides, unipolar patients suffering from dissociative symptoms have more often cyclothymic affective temperament. Despite the limits of such studies dissociative symptoms-BD association seems to correspond to a clinical reality and further works on this topic may be warranted. Copyright © 2014 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

Purpura, petechiae, and bullae as first signs of juvenile granulomatosis with polyangiitis.

PubMed

Rawn, Saara; Miettunen, Paivi; Brown, Holly A; Schmeling, Heinrike

2014-12-01

We present a case of a 14-year-old girl who had a severe form of granulomatosis with polyangiitis (GPA) with extensive dermatological involvement, whose initial presentation was nonspecific leading to diagnostic confusion and initial consideration of infectious and other vasculitis causes. The patient presented with fever, congestion, malaise, and sinus pain. She was diagnosed with bacterial sinusitis and treated with antibiotics. Within weeks, she developed abdominal pain, hematuria, migratory arthritis, and palpable purpura and was diagnosed with Henoch-Schonlein purpura. She went on to develop hemoptysis and progression of the rash into erosive bullae. Investigations revealed that she was ANCA positive and had pauci-immune glomerulonephritis. Given her upper airway, pulmonary and renal involvement, and antineutrophil cytoplasmic antibodies positivity, a definitive diagnosis of a severe form of GPA was made. GPA is a chronic relapsing, life threatening vasculitis that predominantly affects small vessels. Our case demonstrates that GPA can present initially with nonspecific symptoms, including extensive dermatological involvement, leading to diagnostic confusion, and delays in treatment. In the case of a severe peripheral rash in the juvenile population and/or resistant upper airway symptoms, it is vital to consider a diagnosis of GPA to avoid serious organ or life threatening consequences.

Complete atrioventricular block as initial manifestation of systemic lupus erythematosus.

PubMed

Arce-Salinas, C A; Carmona-Escamilla, M A; Rodríguez-García, F

2009-01-01

Only a few cases of complete atrioventricular block (AVB) in adult lupus patients have been previously described, but only one as the initial manifestation. A 19-year-old woman who presented with seizures and loss of consciousness, was diagnosed with complete ABV and underwent pacemaker placement. Over the next weeks she developed serositis, joint, cutaneous, and renal involvement; positive antinuclear antibodies and high anti-SSA/Ro titers. This is the second case with AVB as a feature of SLE at onset. A review of previous complete AVB cases of adult SLE patients is presented.

Acute Severe Aortic Regurgitation: Imaging with Pathological Correlation

PubMed Central

Janardhanan, Rajesh; Pasha, Ahmed Khurshid

2016-01-01

Context: Acute aortic regurgitation (AR) is an important finding associated with a wide variety of disease processes. Its timely diagnosis is of utmost importance. Delay in diagnosis could prove fatal. Case Report: We describe a case of acute severe AR that was timely diagnosed using real time three-dimensional (3D) transesophageal echocardiogram (3D TEE). Not only did it diagnose but also the images obtained by 3D TEE clearly matched with the pathologic specimen. Using this sophisticated imaging modality that is mostly available at the tertiary centers helped in the timely diagnosis, which lead to the optimal management saving his life. Conclusion: Echocardiography and especially 3D TEE can diagnose AR very accurately. Surgical intervention is the definitive treatment but medical therapy is utilized to stabilize the patient initially. PMID:27114975

Malignant melanoma slide review project: Patients from non-Kaiser hospitals in the San Francisco Bay Area. Final report

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

Reynolds, P.

This project was initiated, in response to concerns that the observed excess of malignant melanoma among employees of Lawrence Livermore National Laboratory (LLNL) might reflect the incidence of disease diagnostically different than that observed in the general population. LLNL sponsored a slide review project, inviting leading dermatopathology experts to independently evaluate pathology slides from LLNL employees diagnosed with melanoma and those from a matched sample of Bay Area melanoma patients who did not work at the LLNL. The study objectives were to: Identify all 1969--1984 newly diagnosed cases of malignant melanoma among LLNL employees resident in the San Francisco-Oakland Metropolitanmore » Statistical Area, and diagnosed at facilities other than Kaiser Permanente; identify a comparison series of melanoma cases also diagnosed between 1969--1984 in non-Kaiser facilities, and matched as closely as possible to the LLNL case series by gender, race, age at diagnosis, year of diagnosis, and hospital of diagnosis; obtain pathology slides for the identified (LLNL) case and (non-LLNL) comparison patients for review by the LLNL-invited panel of dermatopathology experts; and to compare the pathologic characteristics of the case and comparison melanoma patients, as recorded by the dermatopathology panel.« less

INITIAL IMPRESSIONS OF THE DIAGNOSTIC USE OF RADIOACTIVE PHOSPHORUS IN OPHTHALMOLOGY

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

Stankovic, M.

Out of 10 cases, the use of radioactive P established four cases of malignant growths on the retina that were histologically confirmed, but gave falsely positive results in two cases immediately after surgical intervention, and was negative in the other four cases. It was concluded that the method appears justified in diagnosing intraocular tumors if regarded as an auxiliary method and not as the decisive factor. (P.C.H.)

Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis.

PubMed

Beydoun, Said R; Cho, Justin

2013-09-01

Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited autosomal dominant disorder that causes a polyneuropathy with predisposition for involvement at sites of compression and is often underdiagnosed or misdiagnosed due to its heterogeneity in clinical and electrophysiological presentation. We report 2 cases of HNPP, which were initially diagnosed and treated as either an acquired demyelinating disorder or alternative inherited demyelinating disorder. Thorough evaluation of repeat electrodiagnostic studies and genetic testing confirmed the diagnosis of HNPP in both cases. One case showed the classic peripheral myelin protein 22 (PMP22) deletion and the other case showed a previously reported single base pair deletion at Leu145 causing a frameshift mutation at the PMP22 gene. These cases underscore the difficulty of diagnosing HNPP, because of the variations in clinical and electrophysiological findings and reinforce the importance of a combination high index of clinical suspicion, electrodiagnostic testing, and genetic testing to make the diagnosis.

Clinicopathological features of gastric metastasis from breast cancer in three cases.

PubMed

Koike, Kenta; Kitahara, Kenji; Higaki, Mayumi; Urata, Masako; Yamazaki, Fumio; Noshiro, Hirokazu

2014-09-01

The common sites for metastases from breast cancer are lymph nodes, bone, lung, liver, and brain. Gastrointestinal (GI) metastasis is rarely found or diagnosed in patients with breast cancer. This report presents three cases of gastric metastasis from breast cancer. Case 1 was a 42-year-old female diagnosed with gastric metastasis after mastectomy with axillary lymph node dissection for invasive lobular carcinoma of the left breast. Case 2 was a 54-year-old female who was diagnosed to have invasive lobular carcinoma of the left breast with systemic bone and gastric metastasis. Case 3 was a 54-year-old female who was diagnosed to have bilateral invasive ductal carcinoma of the breast with simultaneous bone and gastric metastasis. The immunohistochemical statuses for estrogen receptor, progesterone receptor, mammaglobin, and gross cystic disease fluid protein-15 (GCDFP-15) between the primary and gastric metastatic lesions were all well matched. All three cases were treated with systemic chemotherapy, hormone therapy or both, without surgical intervention for gastric lesions. Two patients with disseminated disease died 27 and 58 months after diagnosis of gastric metastasis, while one patient without organ metastasis is still alive at 56 months after diagnosis. It is important to make a correct diagnosis by distinguishing gastric metastasis from breast cancer in order to select the optimal initial treatment for systemic disease of breast cancer.

Point-of-care ultrasound leads to diagnostic shifts in patients with undifferentiated hypotension.

PubMed

Shokoohi, Hamid; Boniface, Keith S; Zaragoza, Michelle; Pourmand, Ali; Earls, James P

2017-12-01

To assess the impact of an ultrasound hypotension protocol in identifying life-threatening diagnoses that were missed in the initial evaluation of patients with hypotension and shock. A subset of cases from a previously published prospective study of hypotensive patients who presented at the Emergency Department in a single, academic tertiary care hospital is described. An ultrasound-trained emergency physician performed an ultrasound on each patient using a standardized hypotension protocol. In each case, the differential diagnosis and management plan was solicited from the treating physician immediately before and after the ultrasound. This is a case series of patients with missed diagnoses in whom ultrasound led to a dramatic shift in diagnosis and management by detecting life threatening pathologies. Following a published prospective study of the effect on an ultrasound protocol in 118 hypotensive patients, we identified a series of cases that ultrasound protocol unexpectedly determined serious life threatening diagnoses such as Takotsubo cardiomyopathy, pulmonary embolism, pericardial effusion with tamponade physiology, abdominal aortic aneurysm and perforated viscus resulting in proper diagnoses and management. These hypotensive patients had completely unsuspected but critical diagnoses explaining their hypotension, who in every case had their management altered to target the newly identified life-threatening condition. A hypotension protocol is an optimal use of ultrasound that exemplifies "right time, right place", and impacts decision-making at the bedside. In cases with undifferentiated hypotension, ultrasound is often the most readily available option to ensure that the most immediate life-threatening conditions are quickly identified and addressed in the order of their risk potential. Copyright © 2017 Elsevier Inc. All rights reserved.

Omental fibromatosis treated by laparoscopic wide surgical resection

PubMed Central

Martin, David; Muradbegovic, Mirza; Andrejevic-Blant, Snezana; Petermann, David; Di Mare, Luca

2018-01-01

Summary The current report presents a case of an omental fibromatosis discovered incidentally in a 46-year-old woman with no particular medical history and few symptoms. A surgical biopsy was performed initially, and microscopic examination revealed myofibroblastic proliferation. After additional immunohistochemical and molecular analyses, omental fibromatosis was diagnosed. Omental fibromatosis, also called intra-abdominal desmoid, is a rare and benign tumour but can be locally aggressive. Majority of cases are asymptomatic, and difficult to diagnose based on clinical presentation and radiological investigation. Final diagnosis is usually made on histopathology and immunohistochemistry studies. Surgical wide excision is currently the treatment of choice. PMID:29552447

Adult-onset Still's disease initially thought to be an odontogenic infection: A case report.

PubMed

Hino, Shunsuke; Nakamura, Satoshi; Kaneko, Takahiro; Horie, Norio; Shimoyama, Tetsuo

2018-06-01

To present a case of Adult-onset Still's disease (AOSD) initially suspected to be odontogenic inflammation. Adult-onset Still's disease is a rare, complex autoinflammatory disease and a known cause of fever of unknown origin. The patient had both a fever and dental pain. Following meticulous examination, the patient was diagnosed with AOSD. Clinicians should keep in mind that a patient such as AOSD may visit their clinics. © 2018 John Wiley & Sons A/S and The Gerodontology Association. Published by John Wiley & Sons Ltd.

Accuracy of the initial endoscopic diagnosis in the discrimination of gastric ulcers: is endoscopic follow-up study always needed?

PubMed

Bustamante, Marco; Devesa, Francesc; Borghol, Abdul; Ortuño, Juan; Ferrando, Maria Jose

2002-07-01

Endoscopic follow-up study of gastric ulcers has been recommended routinely because of the possibility that a gastric neoplasm will be missed in the initial endoscopy. Some authors, most of them reporting data from areas of low gastric carcinoma incidence, have questioned this policy because of the low numbers of curable cancers detected and the high cost of such a program. To assess the accuracy of endoscopy diagnosis of gastric ulcers, and to evaluate the efficacy and cost of a gastric ulcer follow-up endoscopic program in an area with an intermediate incidence rate of gastric cancer. A retrospective study was used to identify all the gastroscopies in which a gastric ulcer had been diagnosed during a 6-year period. The endoscopic impression was compared with the histologic diagnosis, sensitivity, specificity, positive and negative predictive values, and the likelihood ratio. Patients who completed a follow-up program also were reviewed. For each neoplasm discovered, the number of endoscopies and global cost were calculated. In the 741 gastroscopies performed, 547 gastric ulcers were diagnosed in 529 patients. Biopsies were taken in 330 patients, in whom 341 gastric ulcers were found. At the index endoscopy, 41 gastric neoplasms (12.4%) were diagnosed. The accuracy of endoscopic malignancy diagnosis was as follows: positive predictive value of 0.68, negative predictive value of 0.98, sensitivity of 0.82, and specificity of 0.95. The likelihood ratio was 16. A total of 117 patients completed the follow-up program. Three new cases of gastric cancer (2.6%) were identified. In these three cases, the initial opinion of the endoscopist was uncertain. In the authors' experience, the cost of each gastric cancer diagnosed has been $4.653 (U.S. dollars). The endoscopic impression correlates with the histologic diagnosis even in a area of intermediate gastric cancer incidence. Endoscopic follow-up study may be restricted to cases of uncertain or malignant endoscopic impression.

Two case reports of severe myocarditis associated with the initiation of dolutegravir treatment in HIV patients

PubMed Central

Mahlab-Guri, Keren; Asher, Ilan; Rosenberg-Bezalel, Shira; Elbirt, Daniel; Burke, Michael; Sthoeger, Zev M.

2016-01-01

Abstract Rationale: The integrase inhibitor dolutegravir is now recommended as first-line treatment for HIV. A single case of myocarditis after treatment with dolutegravir was reported in the FLAMINGO trial. We present here 2 cases of severe myocarditis that occurred shortly after the initiation of dolutegravir treatment. Patients concerns: The first case is a 45-year-old female who developed severe congestive heart failure and died, weeks after the initiation of dolutegravir treatment (for simplification of her antiretroviral regimen). The second case was a 51-year-old male who presented with effort dyspnea 3 weeks after the initiation of dolutegravir treatment and was later diagnosed as severe congestive heart failure. The treatment was changed and the patient survived, but he still suffers from severe heart failure with functional impairment. Diagnosis and Outcome: Patient 1 died, patient 2 suffers from severe heart failure. Lessons: We discuss here the possible relationship between the initiation of dolutegravir treatment and the development of lymphocytic myocarditis in our patients, and we suggest a possible mechanism. PMID:27893693

Mutiple Spontaneous Rib Fractures in Patient with Cushing's Syndrome.

PubMed

Lee, Hyun Jung; Je, Ji Hye; Seo, Ji Hye; Na, Young Ju; Yoo, Hye Jin

2014-11-01

Glucocorticoid (GC) excess, including Cushing's syndrome, is a common cause of secondary osteoporosis. Thirty to fifty percent of Cushing's syndrome patients experience non-traumatic fractures, which is often the presenting manifestation of Cushing's syndrome. However, there have been rare cases of Cushing's syndrome diagnosed only based upon bone manifestations. We describe a case of Cushing's syndrome that was diagnosed in a 44-year-old woman who initially visited our hospital due to multiple non-traumatic rib fractures. She did not exhibit any other manifestations of Cushing's syndrome such as moon face, buffalo hump or abdominal striae. Initially, we evaluated her for bone metastases from a cancer of unknown origin, but there was no evidence of metastatic cancer. Instead, we found a left adrenal incidentaloma. As a result of the hormone study, she was diagnosed as having Cushing's syndrome. Interestingly, her bony manifestation of Cushing's syndrome, which was evident in the bone scan and bone mineral densitometry, completely recovered after a left adrenalectomy. Therefore, the possibility of Cushing's syndrome as a cause of secondary osteoporosis should be considered in young patients with non-traumatic multiple fractures, with or without any other typical features of Cushing's syndrome.

Two pseudo-outbreaks of infectious mononucleosis.

PubMed

Armstrong, C W; Hackler, R L; Miller, G B

1986-01-01

Two outbreaks of suspected infectious mononucleosis (IM) were investigated. In the first outbreak IM was diagnosed in nine children attending a day care center. They had been tested in physicians' offices for heterophile antibody using rapid differential slide tests; all tests had been reported positive. On retesting, none of the suspected cases had detectable serum heterophile antibody. The initial test results had been falsely positive as a result of poor laboratory technique. In the second outbreak IM had been diagnosed in 285 college students. Suspected cases had been found to have serum IgG antibody to the viral capsid antigen of Epstein-Barr virus, but most had not been tested for the presence of heterophile antibody. Retesting of 64 students within 1 month of initial testing yielded only one with heterophile antibody. With the exception of young children (less than 4 years of age), differential slide tests for heterophile antibody are sensitive and specific for recent Epstein-Barr virus infection if properly performed. Viral capsid antigen to Epstein-Barr virus (IgG) titers are of limited usefulness in diagnosing acute IM. The misdiagnosis of IM can be prevented by the appropriate selection, performance and interpretation of diagnostic laboratory tests.

What Is Inflammatory Breast Cancer? Revisiting the Case Definition

DTIC Science & Technology

2010-03-03

d’orange 7 14% Warmth 6 12% Thick mass 3 6% Other 12 24% Initial clinical diagnoses for 10 women were infection, including nine diagnoses of mastitis ...antibiotics since it may be inadvisable to biopsy an infectious process, but clinically , it is important to note that mastitis is generally seen in...invasion and recently added those with clinical involvement of more than 3/4 of the breast. We established a registry to collect information and specimens

Acute thoracolumbar pain due to cholecystitis: a case study.

PubMed

Carter, Chris T

2015-01-01

This article describes and discusses the case of an adult female with cholecystitis characterized on initial presentation as acute thoracolumbar pain. A 34-year-old female presented for care with a complaint of acute right sided lower thoracic and upper lumbar pain with associated significant hyperalgesia and muscular hypertonicity. The patient was examined, referred, and later diagnosed by use of ultrasound imaging. Despite many initial physical examination findings of musculoskeletal dysfunction, this case demonstrates the significance of visceral referred pain, viscerosomatic hyperalgesia & hypertonicity, and how these neurological processes can mimic mechanical pain syndromes. A clinical neurological discussion of cholecystitis visceral pain and referred viscerosomatic phenomena is included.

[A case of focal epilepsy manifesting multiple psychiatric auras].

PubMed

Ezura, Michinori; Kakisaka, Yosuke; Jin, Kazutaka; Kato, Kazuhiro; Iwasaki, Masaki; Fujikawa, Mayu; Aoki, Masashi; Nakasato, Nobukazu

2015-01-01

We present a case of epilepsy with multiple types of focal seizures that were misdiagnosed as psychiatric disorders. A 20-year-old female patient presented with a variety of episodes, including loss of consciousness, deja vu, fear, delusion of possession, violent movements, and generalized convulsions. Each of these symptoms appeared in a stereotypic manner. She was initially diagnosed with a psychiatric disorder and treated with psychoactive medications, which had no effect. Long-term video electroencephalography revealed that her episodes of violent movement with impaired consciousness and secondarily generalized seizure were epileptic events originating in the right hemisphere. High-field brain magnetic resonance imaging for detecting subtle lesions revealed bilateral lesions from periventricular nodular heterotopia. Her final diagnosis was right hemispheric focal epilepsy. Carbamazepine administration was started, which successfully controlled all seizures. The present case demonstrates the pitfall of diagnosing focal epilepsy when it presents with multiple types of psychiatric aura. Epilepsy should thus be included in differential diagnoses, considering the stereotypic nature of symptoms, to avoid misdiagnosis.

Peer-Delivered Linkage Case Management and Same-Day ART Initiation for Men and Young Persons with HIV Infection - Eswatini, 2015-2017.

PubMed

MacKellar, Duncan; Williams, Daniel; Bhembe, Bonsile; Dlamini, Makhosazana; Byrd, Johnita; Dube, Lenhle; Mazibuko, Sikhathele; Ao, Trong; Pathmanathan, Ishani; Auld, Andrew F; Faura, Pamela; Lukhele, Nomthandazo; Ryan, Caroline

2018-06-15

To achieve epidemic control of human immunodeficiency virus (HIV) infection, sub-Saharan African countries are striving to diagnose 90% of HIV infections, initiate and retain 90% of HIV-diagnosed persons on antiretroviral therapy (ART), and achieve viral load suppression* for 90% of ART recipients (90-90-90) (1). In Eswatini (formerly Swaziland), the country with the world's highest estimated HIV prevalence (27.2%), achieving 90-90-90 depends upon improving access to early ART for men and young adults with HIV infection, two groups with low ART coverage (1-3). Although community-based strategies test many men and young adults with HIV infection in Eswatini, fewer than one third of all persons who test positive in community settings enroll in HIV care within 6 months of diagnosis after receiving standard referral services (4,5). To evaluate the effectiveness of peer-delivered linkage case management † in improving early ART initiation for persons with HIV infection diagnosed in community settings in Eswatini, CDC analyzed data on 651 participants in CommLink, a community-based, mobile HIV-testing, point-of-diagnosis HIV care, and peer-delivered linkage case management demonstration project, and found that after diagnosis, 635 (98%) enrolled in care within a median of 5 days (interquartile range [IQR] = 2-8 days), and 541 (83%) initiated ART within a median of 6 days (IQR = 2-14 days), including 402 (74%) on the day of their first clinic visit (same-day ART). After expanding ART eligibility to all persons with HIV infection on October 1, 2016, 96% of 225 CommLink clients initiated ART, including 87% at their first clinic visit. Compared with women and adult clients aged ≥30 years, similar high proportions of men and persons aged 15-29 years enrolled in HIV care and received same-day ART. To help achieve 90-90-90 by 2020, the United States President's Emergency Plan for AIDS Relief (PEPFAR) is supporting the national scale-up of CommLink in Eswatini and recommending peer-delivered linkage case management as a potential strategy for countries to achieve >90% early enrollment in care and ART initiation after diagnosis of HIV infection (6).

A home tracing program for contacts of people with tuberculosis or HIV and patients lost to care.

PubMed

Deery, C B; Hanrahan, C F; Selibas, K; Bassett, J; Sanne, I; Van Rie, A

2014-05-01

Primary care clinic serving a high tuberculosis (TB) and human immunodeficiency virus (HIV) prevalence community in South Africa. To evaluate a program combining TB and HIV contact investigation with tracing of individuals lost to TB or HIV care. Contacts were offered home-based HIV testing, TB symptom screening, sputum collection and referral for isoniazid preventive therapy (IPT). Effectiveness was assessed by the number needed to trace (NNT). Only 419/1197 (35.0%) households were successfully traced. Among 267 contacts, we diagnosed 27 new HIV cases (10 linked to care) and two TB cases (both initiated treatment) and three started IPT. Of 630 patients lost to care, 132 (21.0%) were successfully traced and 81 (61.4%) re-engaged in care. The NNT to locate one individual lost to care was 4.8 (95%CI 4.1-5.6), to re-engage one person in care 7.8 (95%CI 6.4-9.7), to diagnose one contact with HIV 44.3 (95%CI 30.6-67.0), to link one newly diagnosed contact to HIV care 120 (95%CI 65.3-249.2) and to find one contact with active TB and initiate treatment 599 (95%CI 166.0-4940.7). The effectiveness of this contact tracing approach in identifying new TB and HIV cases was low. Methods to optimize contact investigation should be explored and their cost-effectiveness assessed.

Pelvic Actinomycosis

PubMed Central

García-García, Alejandra; Ramírez-Durán, Ninfa; Sandoval-Trujillo, Horacio

2017-01-01

Introduction Actinomycosis is a chronic bacterial infection caused by Actinomyces, Gram-positive anaerobic bacteria. Its symptomatology imitates some malignant pelvic tumours, tuberculosis, or nocardiosis, causing abscesses and fistulas. Actinomycoses are opportunistic infections and require normal mucous barriers to be altered. No epidemiological studies have been conducted to determine prevalence or incidence of such infections. Objective To analyse the clinical cases of pelvic actinomycosis reported worldwide, to update the information about the disease. Methods A systematic review of worldwide pelvic actinomycosis cases between 1980 and 2014 was performed, utilising the PubMed, Scopus, and Google Scholar databases. The following information was analysed: year, country, type of study, number of cases, use of intrauterine device (IUD), final and initial diagnosis, and method of diagnosis. Results 63 articles met the search criteria, of which 55 reported clinical cases and 8 reported cross-sectional studies. Conclusions Pelvic actinomycosis is confusing to diagnose and should be considered in the differential diagnosis of pelvic chronic inflammatory lesions. It is commonly diagnosed through a histological report, obtained after a surgery subsequent to an erroneous initial diagnosis. A bacterial culture in anaerobic medium could be useful for the diagnosis but requires a controlled technique and should be performed using specialised equipment. PMID:28684963

Takotsubo cardiomyopathy associated with thyrotoxicosis: a case report and review of the literature.

PubMed

Eliades, Myrto; El-Maouche, Diala; Choudhary, Chitra; Zinsmeister, Bruce; Burman, Kenneth D

2014-02-01

Takotsubo or stress-induced cardiomyopathy is a form of reversible cardiomyopathy commonly associated with emotional or physical stress. Thyrotoxicosis has been identified as a rare cause of Takotsubo cardiomyopathy, with only 12 cases reported in the literature. Here, we report a case of thyroid storm presenting with Takotsubo cardiomyopathy in the setting of Graves' disease. A 71-year-old woman presented with abdominal pain, vomiting, confusion, and history of weight loss. She was initially diagnosed and treated for diabetic ketoacidosis at another hospital and was transferred to our hospital one day after initial presentation because of concern for acute coronary syndrome. A diagnosis of Takotsubo cardiomyopathy was made on the basis of cardiac catheterization. At that time, she was diagnosed and treated for thyroid storm. Follow-up 7 weeks later revealed improvement of her cardiac function and near-normalization of thyroid hormone levels. In this patient, who presented with symptoms of heart failure, acute coronary syndrome was initially considered, but the diagnosis of Takotsubo cardiomyopathy associated with thyroid storm was ultimately made based on cardiac catheterization and laboratory investigation. Thyrotoxicosis is associated with adverse disturbances in the cardiovascular system. Takotsubo cardiomyopathy could be a presenting manifestation of thyroid storm, perhaps related to excess catecholamine levels or sensitivity.

Takotsubo Cardiomyopathy Associated with Thyrotoxicosis: A Case Report and Review of the Literature

PubMed Central

El-Maouche, Diala; Choudhary, Chitra; Zinsmeister, Bruce; Burman, Kenneth D.

2014-01-01

Background: Takotsubo or stress-induced cardiomyopathy is a form of reversible cardiomyopathy commonly associated with emotional or physical stress. Thyrotoxicosis has been identified as a rare cause of Takotsubo cardiomyopathy, with only 12 cases reported in the literature. Here, we report a case of thyroid storm presenting with Takotsubo cardiomyopathy in the setting of Graves' disease. Patient Findings: A 71-year-old woman presented with abdominal pain, vomiting, confusion, and history of weight loss. She was initially diagnosed and treated for diabetic ketoacidosis at another hospital and was transferred to our hospital one day after initial presentation because of concern for acute coronary syndrome. A diagnosis of Takotsubo cardiomyopathy was made on the basis of cardiac catheterization. At that time, she was diagnosed and treated for thyroid storm. Follow-up 7 weeks later revealed improvement of her cardiac function and near-normalization of thyroid hormone levels. Summary: In this patient, who presented with symptoms of heart failure, acute coronary syndrome was initially considered, but the diagnosis of Takotsubo cardiomyopathy associated with thyroid storm was ultimately made based on cardiac catheterization and laboratory investigation. Conclusions: Thyrotoxicosis is associated with adverse disturbances in the cardiovascular system. Takotsubo cardiomyopathy could be a presenting manifestation of thyroid storm, perhaps related to excess catecholamine levels or sensitivity. PMID:23560557

Medical knowledge related to Rocky Mountain spotted fever in Sonora, Mexico.

PubMed

Alvarez-Hernandez, Gerardo; Ernst, Kacey; Acuña-Melendrez, Natalia Haydee; Vargas-Ortega, Anabel Patricia; Candia-Plata, Maria Del Carmen

2018-03-01

Rocky Mountain spotted fever (RMSF) is a tick-borne disease with a high case-fatality rate unless diagnosed promptly and treated timely with doxycycline. Physician knowledge about presentation and treatment can improve outcomes of RMSF in endemic regions, such as Sonora in northern Mexico, where RMSF has caused 1348 non-fatal cases and 247 deaths from 2003 to 2016. A cross-sectional study was conducted with 343 physicians working in medical facilities in Sonora, Mexico. A 25-item questionnaire explored physician knowledge of clinical, epidemiological and preventive aspects of RMSF. Only 62% of physicians agreed that doxycycline should be used as the first choice treatment for children under 8 years with suspected RMSF. Additionally, 40% of primary care physicians correctly identified the time to initiate doxycycline, and 32% correctly identified the case-fatality rate of untreated RMSF in all patients. Inadequate medical knowledge may adversely affect how patients infected with Rickettsia rickettsii are diagnosed and treated. Educational programs that improve the risk perception and medical knowledge about RMSF should be targeted at physicians most likely to have initial contact with diseased patients.

Experienced physicians benefit from analyzing initial diagnostic hypotheses

PubMed Central

Bass, Adam; Geddes, Colin; Wright, Bruce; Coderre, Sylvain; Rikers, Remy; McLaughlin, Kevin

2013-01-01

Background Most incorrect diagnoses involve at least one cognitive error, of which premature closure is the most prevalent. While metacognitive strategies can mitigate premature closure in inexperienced learners, these are rarely studied in experienced physicians. Our objective here was to evaluate the effect of analytic information processing on diagnostic performance of nephrologists and nephrology residents. Methods We asked nine nephrologists and six nephrology residents at the University of Calgary and Glasgow University to diagnose ten nephrology cases. We provided presenting features along with contextual information, after which we asked for an initial diagnosis. We then primed participants to use either hypothetico-deductive reasoning or scheme-inductive reasoning to analyze the remaining case data and generate a final diagnosis. Results After analyzing initial hypotheses, both nephrologists and residents improved the accuracy of final diagnoses (31.1% vs. 65.6%, p < 0.001, and 40.0% vs. 70.0%, p < 0.001, respectively). We found a significant interaction between experience and analytic processing strategy (p = 0.02): nephrology residents had significantly increased odds of diagnostic success when using scheme-inductive reasoning (odds ratio [95% confidence interval] 5.69 [1.59, 20.33], p = 0.07), whereas the performance of experienced nephrologists did not differ between strategies (odds ratio 0.57 [0.23, 1.39], p = 0.20). Discussion Experienced nephrologists and nephrology residents can improve their performance by analyzing initial diagnostic hypotheses. The explanation of the interaction between experience and the effect of different reasoning strategies is unclear, but may relate to preferences in reasoning strategy, or the changes in knowledge structure with experience. PMID:26451203

Introduction of a computer-based surgical platform in the surgical care of patients with newly diagnosed uterine cancer: outcomes and impact on approach.

PubMed

Leitao, Mario M; Briscoe, Gabriel; Santos, Kevin; Winder, Abigail; Jewell, Elizabeth L; Hoskins, William J; Chi, Dennis S; Abu-Rustum, Nadeem R; Sonoda, Yukio; Brown, Carol L; Levine, Douglas A; Barakat, Richard R; Gardner, Ginger J

2012-05-01

To assess the introduction of computer-based surgery (ie, robotic surgery [RBT]) in the treatment of patients with newly diagnosed uterine cancer. We identified all patients who presented to our institution for initial surgical care of newly diagnosed uterine cancer from 5/1/07-12/31/10. Perioperative outcomes of laparotomy cases were compared to those of laparoscopic (LSC) or RBT cases. Complications within 30 days of surgery were graded. Of 752 patients, the planned approach was laparotomy in 103 (14%), LSC in 302 (40%), and RBT in 347 (46%). The rate of laparotomy for any reason (planned or converted) was 39% in 2007 compared to 18% in 2010 (P<0.001). Preoperative characteristics for LSC and RBT cases were similar, except 10% versus 15%, respectively, were morbidly obese (P=0.049). The extent of procedure, total nodal counts, and overall complications were similar between the LSC and RBT cases. The median length of stay was shorter for RBT cases (P<0.001). The median total room and operative times were longer for RBT cases (P<0.001), mainly due to cases in which the surgeon had less than ~40 RBT cases of experience. Robotics can be efficiently introduced into the surgical care of patients with newly diagnosed uterine cancers. RBT cases require the same operative times as LSC cases after accounting for the 40-case learning curve. Both approaches result in similar excellent patient outcomes and remain reasonable approaches for this disease. The introduction of robotics may lead to further reduction in the rate of laparotomy. Copyright © 2012 Elsevier Inc. All rights reserved.

Hybrid Systems Diagnosis

NASA Technical Reports Server (NTRS)

McIlraith, Sheila; Biswas, Gautam; Clancy, Dan; Gupta, Vineet

2005-01-01

This paper reports on an on-going Project to investigate techniques to diagnose complex dynamical systems that are modeled as hybrid systems. In particular, we examine continuous systems with embedded supervisory controllers that experience abrupt, partial or full failure of component devices. We cast the diagnosis problem as a model selection problem. To reduce the space of potential models under consideration, we exploit techniques from qualitative reasoning to conjecture an initial set of qualitative candidate diagnoses, which induce a smaller set of models. We refine these diagnoses using parameter estimation and model fitting techniques. As a motivating case study, we have examined the problem of diagnosing NASA's Sprint AERCam, a small spherical robotic camera unit with 12 thrusters that enable both linear and rotational motion.

Lyme Disease Surveillance in New York State: an Assessment of Case Underreporting.

PubMed

White, J; Noonan-Toly, C; Lukacik, G; Thomas, N; Hinckley, A; Hook, S; Backenson, P B

2018-03-01

Despite the mandatory nature of Lyme disease (LD) reporting in New York State (NYS), it is believed that only a fraction of the LD cases diagnosed annually are reported to public health authorities. Lack of complete LD case reporting generally stems from (i) lack of report of provider-diagnosed cases where supportive laboratory testing is not ordered or results are negative (i.e. provider underreporting) and (ii) incomplete case information (clinical laboratory reporting only with no accompanying clinical information) such that cases are considered 'suspect' and not included in national and statewide case counts (i.e. case misclassification). In an attempt to better understand LD underreporting in NYS, a two-part study was conducted in 2011 using surveillance data from three counties. Case misclassification was assessed by obtaining medical records on suspect cases and reclassifying according to the surveillance case definition. To assess provider underreporting, lists of patients for whom ICD-9-CM code 088.81 (LD) had been used were reported to NYS Department of Health (NYSDOH). These lists were matched to the NYSDOH case reporting system, and medical records were requested on patients not previously reported; cases were then classified according to the case definition. When including both provider underreporting and case misclassification, approximately 20% (range 18.4-24.6%) more LD cases were identified in the three-county study area than were originally reported through standard surveillance. The additional cases represent a minimum percentage of unreported cases; the true percentage of unreported cases is likely higher. Unreported cases were more likely to have a history of erythema migrans (EM) rash and were more likely to be young paediatric cases. Results of the study support the assertion that LD cases are underreported in NYS. Initiatives to increase reporting should highlight the importance of reporting clinically diagnosed EM and be targeted to those providers most likely to diagnose LD, specifically providers treating paediatric patients. © 2016 Blackwell Verlag GmbH.

Severely Crusted Cheilitis as an Initial Presentation of Systemic Lupus Erythematosus.

PubMed

Chan, Wai Man Mandy; Pang, Shiu Ming; Ng, See Ket

2017-01-01

Lupus erythematosus (LE) is an autoimmune disease which may initially present solely with lip lesions. Due to a wide spectrum of presentation, these features may initially be misdiagnosed as other oral diseases such as lichen planus, erythema multiforme (EM), and actinic cheilitis, leading to a delay in diagnosis and treatment. We discuss a case of severely crusted cheilitis which was initially diagnosed as EM, with subsequent development of subacute cutaneous LE, and progression to systemic LE. We will discuss the clinical and histological features of lupus cheilitis.

Abdominal Sarcoidosis Mimicking Peritoneal Carcinomatosis.

PubMed

Roh, Won Seok; Lee, Seungho; Park, Ji Hyun; Kang, Jeonghyun

2018-04-01

We present a patient diagnosed with skin sarcoidosis, breast cancer, pulmonary tuberculosis, and peritoneal sarcoidosis with a past history of colorectal cancer. During stage work up for breast cancer, suspicious lesions on peritoneum were observed in imaging studies. Considering our patient's history and imaging findings, we initially suspected peritoneal carcinomatosis. However, the peritoneal lesion was diagnosed as sarcoidosis in laparoscopic biopsy. This case demonstrates that abdominal sarcoidosis might be considered as a differential diagnosis when there is a lesion suspected of being peritoneal carcinomatosis with nontypical clinical presentations.

Venous Thromboembolism Due to Oral Contraceptive Intake and Spending Nights in a Vehicle -A Case from the 2016 Kumamoto Earthquakes.

PubMed

Sueta, Daisuke; Akahoshi, Rika; Okamura, Yoshinori; Kojima, Sunao; Ikemoto, Tomokazu; Yamamoto, Eiichiro; Izumiya, Yasuhiro; Tsujita, Kenichi; Kaikita, Koichi; Katabuchi, Hidetaka; Hokimoto, Seiji

2017-01-01

A 40-year-old woman experiencing sudden dyspnea went to her personal doctor for advice. She was previously diagnosed with endometriosis and prescribed oral contraceptives for treatment. During earthquakes, she spent 7 nights sleeping in a vehicle. The patient had swelling and pain in her left leg and high D-dimer concentration levels. A contrast-enhanced computed tomography scan revealed a contrast deficit in the bilateral pulmonary artery and in the left lower extremity. She was diagnosed with pulmonary thromboembolism (PTE), and anticoagulation therapy was initiated. This present case is the first report of PTE attributed to the use of oral contraceptives after earthquakes.

How does initial treatment choice affect short-term and long-term costs for clinically localized prostate cancer?

PubMed

Snyder, Claire F; Frick, Kevin D; Blackford, Amanda L; Herbert, Robert J; Neville, Bridget A; Carducci, Michael A; Earle, Craig C

2010-12-01

Data regarding costs of prostate cancer treatment are scarce. This study investigates how initial treatment choice affects short-term and long-term costs. This retrospective, longitudinal cohort study followed prostate-cancer cases diagnosed in 2000 for 5 years using the Surveillance, Epidemiology, and End Results (SEER)-Medicare database. Men age≥66 years, in Medicare fee for service, diagnosed with clinically localized prostate cancer in 2000 while residing in a SEER region, were matched to noncancer controls using age, sex, race, region, comorbidity, and survival. On the basis of treatment received during the first 9 months postdiagnosis, patients were assigned to watchful waiting, radiation, hormonal therapy, hormonal+radiation, and surgery (may have received other treatments). Incremental costs for prostate cancer were the difference in costs for prostate cancer cases versus matched controls. Costs were divided into initial treatment (months -1 to 12), long-term (each 12 months thereafter), and total (months -1 to 60). Sensitivity analyses excluded the last 12 months of life. A total of 13,769 prostate-cancer cases were matched to 13,769 noncancer controls. Watchful waiting had the lowest initial treatment ($4270) and 5-year total costs ($9130). Initial treatment costs were highest for hormonal+radiation ($17,474) and surgery ($15,197). At $26,896, 5-year total costs were highest for hormonal therapy only followed by hormonal+radiation ($25,097) and surgery ($19,214). After excluding the last 12 months of life, total costs were highest for hormonal+radiation ($23,488) and hormonal therapy ($23,199). Patterns of costs vary widely based on initial treatment. These data can inform patients and clinicians considering treatment options and policy makers interested in patterns of costs. Copyright © 2010 American Cancer Society.

Food Protein-Induced Enterocolitis Instead of Necrotizing Enterocolitis? A Neonatal Intensive Care Unit Case Series.

PubMed

Lenfestey, Mary W; de la Cruz, Diomel; Neu, Josef

2018-05-23

Necrotizing enterocolitis is an important disease in infants born premature. However, other disease entities present with similar signs and symptoms. This series reviews 5 atypical cases initially diagnosed as necrotizing enterocolitis that may be more consistent with food protein-induced enterocolitis. Food protein-induced enterocolitis may be underdiagnosed in this population. Copyright © 2018 Elsevier Inc. All rights reserved.

Evaluation of 12 strategies for obtaining second opinions to improve interpretation of breast histopathology: simulation study.

PubMed

Elmore, Joann G; Tosteson, Anna Na; Pepe, Margaret S; Longton, Gary M; Nelson, Heidi D; Geller, Berta; Carney, Patricia A; Onega, Tracy; Allison, Kimberly H; Jackson, Sara L; Weaver, Donald L

2016-06-22

 To evaluate the potential effect of second opinions on improving the accuracy of diagnostic interpretation of breast histopathology.  Simulation study.  12 different strategies for acquiring independent second opinions.  Interpretations of 240 breast biopsy specimens by 115 pathologists, one slide for each case, compared with reference diagnoses derived by expert consensus.  Misclassification rates for individual pathologists and for 12 simulated strategies for second opinions. Simulations compared accuracy of diagnoses from single pathologists with that of diagnoses based on pairing interpretations from first and second independent pathologists, where resolution of disagreements was by an independent third pathologist. 12 strategies were evaluated in which acquisition of second opinions depended on initial diagnoses, assessment of case difficulty or borderline characteristics, pathologists' clinical volumes, or whether a second opinion was required by policy or desired by the pathologists. The 240 cases included benign without atypia (10% non-proliferative, 20% proliferative without atypia), atypia (30%), ductal carcinoma in situ (DCIS, 30%), and invasive cancer (10%). Overall misclassification rates and agreement statistics depended on the composition of the test set, which included a higher prevalence of difficult cases than in typical practice.  Misclassification rates significantly decreased (P<0.001) with all second opinion strategies except for the strategy limiting second opinions only to cases of invasive cancer. The overall misclassification rate decreased from 24.7% to 18.1% when all cases received second opinions (P<0.001). Obtaining both first and second opinions from pathologists with a high volume (≥10 breast biopsy specimens weekly) resulted in the lowest misclassification rate in this test set (14.3%, 95% confidence interval 10.9% to 18.0%). Obtaining second opinions only for cases with initial interpretations of atypia, DCIS, or invasive cancer decreased the over-interpretation of benign cases without atypia from 12.9% to 6.0%. Atypia cases had the highest misclassification rate after single interpretation (52.2%), remaining at more than 34% in all second opinion scenarios.  Second opinions can statistically significantly improve diagnostic agreement for pathologists' interpretations of breast biopsy specimens; however, variability in diagnosis will not be completely eliminated, especially for breast specimens with atypia. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Evaluation of 12 strategies for obtaining second opinions to improve interpretation of breast histopathology: simulation study

PubMed Central

Tosteson, Anna NA; Pepe, Margaret S; Longton, Gary M; Nelson, Heidi D; Geller, Berta; Carney, Patricia A; Onega, Tracy; Allison, Kimberly H; Jackson, Sara L; Weaver, Donald L

2016-01-01

Objective To evaluate the potential effect of second opinions on improving the accuracy of diagnostic interpretation of breast histopathology. Design Simulation study. Setting 12 different strategies for acquiring independent second opinions. Participants Interpretations of 240 breast biopsy specimens by 115 pathologists, one slide for each case, compared with reference diagnoses derived by expert consensus. Main outcome measures Misclassification rates for individual pathologists and for 12 simulated strategies for second opinions. Simulations compared accuracy of diagnoses from single pathologists with that of diagnoses based on pairing interpretations from first and second independent pathologists, where resolution of disagreements was by an independent third pathologist. 12 strategies were evaluated in which acquisition of second opinions depended on initial diagnoses, assessment of case difficulty or borderline characteristics, pathologists’ clinical volumes, or whether a second opinion was required by policy or desired by the pathologists. The 240 cases included benign without atypia (10% non-proliferative, 20% proliferative without atypia), atypia (30%), ductal carcinoma in situ (DCIS, 30%), and invasive cancer (10%). Overall misclassification rates and agreement statistics depended on the composition of the test set, which included a higher prevalence of difficult cases than in typical practice. Results Misclassification rates significantly decreased (P<0.001) with all second opinion strategies except for the strategy limiting second opinions only to cases of invasive cancer. The overall misclassification rate decreased from 24.7% to 18.1% when all cases received second opinions (P<0.001). Obtaining both first and second opinions from pathologists with a high volume (≥10 breast biopsy specimens weekly) resulted in the lowest misclassification rate in this test set (14.3%, 95% confidence interval 10.9% to 18.0%). Obtaining second opinions only for cases with initial interpretations of atypia, DCIS, or invasive cancer decreased the over-interpretation of benign cases without atypia from 12.9% to 6.0%. Atypia cases had the highest misclassification rate after single interpretation (52.2%), remaining at more than 34% in all second opinion scenarios. Conclusion Second opinions can statistically significantly improve diagnostic agreement for pathologists’ interpretations of breast biopsy specimens; however, variability in diagnosis will not be completely eliminated, especially for breast specimens with atypia. PMID:27334105

Pleural sarcoidosis diagnosed on the basis of an increased CD4/CD8 lymphocyte ratio in pleural effusion fluid: a case report.

PubMed

Kumagai, Toru; Tomita, Yasuhiko; Inoue, Takako; Uchida, Junji; Nishino, Kazumi; Imamura, Fumio

2015-08-14

Pleural effusion induced by sarcoidosis is rare, and pleural sarcoidosis is often diagnosed by thoracoscopic surgery. The diagnosis of pleural sarcoidosis using thoracentesis may be less invasive when sarcoidosis is already diagnosed histologically in more than one organ specimen. Here we report the case of a 64-year-old woman with pleural sarcoidosis diagnosed on the basis of an increased CD4/CD8 lymphocyte ratio in pleural effusion fluid obtained by thoracentesis. This case report is important because it highlights the usefulness of the CD4/CD8 lymphocyte ratio in pleural effusion as an indicator of pleural involvement of sarcoidosis. A 64-year-old Japanese woman visited our hospital with an initial symptom of dyspnea on exertion for a period of 4 months. Chest computed tomography showed bilateral hilar and multiple mediastinal lymphadenopathy, multiple small nodular shadows in her bilateral lungs, small nodular shadows along the interlobar pleura, and bilateral pleural effusion. Her serum angiotensin-converting enzyme and soluble interleukin-2 receptor levels were elevated. Histological analysis of a resected subcutaneous nodule, and biopsy specimens from a right mediastinal lymph node and from her right lung revealed non-caseous epithelioid granulomas. Her bronchoalveolar lavage fluid exhibited a predominance of lymphocytes together with an increase in the CD4/CD8 lymphocyte ratio. The lymphocytic predominance and the increased CD4/CD8 lymphocyte ratio were also detected in the right-sided pleural effusion fluid obtained by thoracentesis. We diagnosed sarcoidosis with pleural involvement. Because pleural effusion did not resolve spontaneously and her symptom of dyspnea on exertion worsened, corticosteroid therapy was initiated, which ameliorated the sarcoidosis and the pleuritis. Analysis of the CD4/CD8 lymphocyte ratio in pleural effusion fluid obtained by thoracentesis may be helpful for the diagnosis of pleural sarcoidosis when the diagnosis is already made by histological examination of more than one organ specimen.

A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

PubMed

Jivani, Nurin; Torrado-Jule, Carmen; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

2016-11-01

Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.

OSTEOID OSTEOMA IN SCAPHOID: CASE REPORT.

PubMed

Severo, Antônio Lourenço; de Araújo Filho, Raimundo; Puentes, Rulby; Lemos, Marcelo Barreto; Piluski, Paulo Faiad; Lech, Osvandré

2012-01-01

Osteoid osteoma is a benign osteoblastic tumor that is unusual in the hand. A location in the carpal bones is infrequent, which leads to errors in diagnosing it because of polymorphism of the clinical symptoms. Reviewing the literature shows that nine cases of osteoid osteoma in the scaphoid have been reported. Here, one case of osteoid osteoma in the scaphoid that was initially treated as De Quervain's stenosing tenosynovitis is reported, with a definitive diagnosis that was delayed for five years.

Poor continuity of care for TB diagnosis and treatment in Zambian Prisons: a situation analysis.

PubMed

Hatwiinda, S; Topp, S M; Siyambango, M; Harris, J B; Maggard, K R; Chileshe, C; Kapata, N; Reid, S E; Henostroza, G

2018-02-01

Prisons act as infectious disease reservoirs. We aimed to explore the challenges of TB control and continuity of care in prisons in Zambia. We evaluated treatment outcomes for a cohort of inmates diagnosed with TB during a TB REACH funded screening programme initiated by the Zambia Prisons Service and the Centre for Infectious Disease Research in Zambia. Between October 2010 and September 2011, 6282 inmates from six prisons were screened for TB, of whom 374 (6.0%) were diagnosed. TB treatment was initiated in 345 of 374 (92%) inmates. Of those, 66% were cured or completed treatment, 5% died and 29% were lost to follow-up. Among those lost to follow-up, 11% were released into the community and 13% were transferred to other prisons. Weak health systems within the Zambian prison service currently undermines continuity of care, despite intensive TB screening and case-finding interventions. To prevent TB transmission and the development of drug resistance, we need sufficient numbers of competent staff for health care, reliable health information systems including electronic record keeping for prison facilities, and standard operating procedures to guide surveillance, case-finding and timely treatment initiation and completion. © 2017 John Wiley & Sons Ltd.

Importance of Second-look Endoscopy on an Empty Stomach for Finding Gastric Bezoars in Patients with Gastric Ulcers.

PubMed

Iwamuro, Masaya; Tanaka, Shouichi; Moritou, Yuki; Inaba, Tomoki; Higashi, Reiji; Kusumoto, Chiaki; Yunoki, Naoko; Ishikawa, Shin; Okamoto, Yuko; Kawai, Yoshinari; Kitada, Ken-Ichi; Takenaka, Ryuta; Toyokawa, Tatsuya; Okada, Hiroyuki

2017-06-01

　Most gastric bezoars can be treated with endoscopic fragmentation combined with or without cola dissolution, whereas laparotomy or laparoscopic surgery is generally inevitable for small intestinal bezoars because they cause small bowel obstruction. Therefore, early diagnosis and management of gastric bezoars are necessary to prevent bezoar-induced ileus. To investigate the incidence of overlooked gastric bezoars during the initial esophagogastroduodenoscopy, we retrospectively reviewed the cases of 27 patients diagnosed with gastrointestinal bezoars. The bezoars were diagnosed using esophagogastroduodenoscopy (n=25), abdominal ultrasonography (n=1), and barium follow-through examination (n=1). Bezoars were overlooked in 9/25 patients (36.0%) during the initial endoscopy examination because the bezoars were covered with debris in the stomach. Of the 9 patients, 8 had concomitant gastric ulcers, and the other patient had gastric lymphoma. Although a computed tomography (CT) scan was performed before the second-look endoscopy in 8 of the 9 patients, the bezoars were mistaken as food debris on CT findings and were overlooked in these patients. In conclusion, gastric bezoars may not be discovered during the initial esophagogastroduodenoscopy and CT scan. In cases with debris in the stomach, second-look endoscopy is essential to detect bezoars.

Cancer in HIV-infected Persons from the Caribbean, Central and South America

PubMed Central

Fink, Valeria I.; Shepherd, Bryan E.; Cesar, Carina; Krolewiecki, Alejandro; Wehbe, Firas; Cortés, Claudia P.; Crabtree-Ramírez, Brenda; Padgett, Denis; Shafaee, Maryam; Schechter, Mauro; Gotuzzo, Eduardo; Bacon, Melanie; McGowan, Catherine; Cahn, Pedro; Masys, Daniel

2011-01-01

Background HIV infected individuals have heightened cancer risk. With the advent of HAART, the frequency of some AIDS defining cancers (ADC) has decreased while certain non-AIDS defining cancers (NADC) are becoming more frequent. Cancers among HIV-infected individuals in Latin American and the Caribbean have not yet been carefully studied. Methods Cancer cases among the Caribbean, Central and South American network for HIV Research (CCASAnet) cohort were identified reviewing clinical records and preexisting databases. Results There were 406 cancers reported: 331 ADC (224 Kaposi´s sarcomas and 98 non Hodgkin lymphomas). Most frequent NADC (n=75) were Hodgkin lymphoma and skin cancers. Seventy-three percent of NADC and 45% of ADC were diagnosed >1 year after HIV diagnosis. 56% of ADC occurred before HAART start. Median time from HAART start until cancer diagnosis was 2.5 years for NADC and 0.5 years for ADC (p=<0.001). Within 3372 HAART starters, 158 were diagnosed with 165 cancers (82.4% ADC); 85 cases were previous to or concomitant with HAART initiation. Incidence of cancer after HAART initiation in 8080 person-years of follow-up was 7.2 per 1000 person-years (95%CI= 5.5–9.3) for ADC and 2.7 (95%CI= 1.8–4.1) for NADC; incidence was higher in the first two months, particularly for ADC (47.6). A pre-HAART ADC was a predictor of mortality after adjusting for age, sex, and CD4 at HAART initiation. Conclusions ADC were the most frequent cancers in this region and were often diagnosed close to HIV diagnosis and HAART start. Incidence of cancer was highest around HAART initiation. PMID:21239992

Urogenital anomalies in girls with sacrococcygeal teratoma: a commonly missed association.

PubMed

Shalaby, Mohamed Sameh; O'Toole, Stuart; Driver, Chris; Bradnock, Tim; Lam, Jimmy; Carachi, Robert

2012-02-01

The association of urogenital (UG) anomalies and sacrococcygeal teratoma (SCT) has not been widely reported. Our aim was to look at the national incidence and presentation of this anomaly in patients with SCT and to provide the first report of a clear anatomical description of this commonly missed association. Sacrococcygeal teratoma cases in Scotland during the last 30 years were identified. Patients with associated UG anomalies were reviewed in detail to identify their presentation, anatomy, and management. Fifty-three patients with SCT were identified, including 41 girls. Five girls (12%) subsequently had a UG anomaly diagnosed, which was not apparent at the initial surgery. Two patients presented with retention, and their anomaly was diagnosed at 6 weeks and 7 months of age. The other 3 presented with incontinence, and despite thorough assessment, including cystoscopy, their UG anomalies were not recognized until the ages of 7, 9, and 13 years. Urogenital anomalies are surprisingly common in girls with SCT. The reason for this association is unclear. None of these cases were diagnosed initially, which means that it was either missed or acquired. Urogenital anomalies should be suspected in girls with SCT and actively excluded in those with voiding difficulties. Copyright © 2012 Elsevier Inc. All rights reserved.

A correlation study of diagnostic fine-needle aspiration with histologic diagnosis in cystic neck lesions.

PubMed

Moatamed, Neda A; Naini, Bita V; Fathizadeh, Payman; Estrella, Julie; Apple, Sophia K

2009-10-01

The clinical diagnosis of a mass in the neck region encompasses a wide spectrum of differential diagnosis. Fine-needle aspiration is a quick and safe technique, which can provide useful information for initial assessment and further therapeutic measures. The aim of this retrospective study was to evaluate the performance characteristics of the fine-needle aspiration (FNA) in cystic neck lesions. Of 142 patients with FNA for cystic neck masses during 2002-2007, 92 cases were selected with a follow-up histologic diagnosis, excluding the cystic colloid nodule of the thyroid. The cases were divided into salivary gland cystic neck (37 patients) and non-salivary cystic neck (55 patients) mass groups. False-positive and false-negative diagnoses were applied only to the malignant lesions after confirmation by histopathology. In the first group, nine malignant and 28 benign diagnoses were made by FNA; of which three were false-negative. In the second group, there were nine malignant and 46 benign diagnoses with three false negatives. The overall performance of the FNA showed 76% sensitivity and 100% specificity. In conclusion, FNA of the cystic neck lesions offers an invaluable and highly specific initial diagnostic approach for the management of the patients. (c) 2009 Wiley-Liss, Inc.

Acute Pancreatitis Complicated with Diabetic Ketoacidosis in a Young Adult without Hypertriglyceridemia: A Case Report.

PubMed

Kim, Jung Hyun; Oh, Myung Jin

2016-11-25

Systemic complications related to acute pancreatitis include acute respiratory distress syndrome, multiple organ dysfunction syndrome, disseminated intravascular coagulation, hypocalcemia, hyperglycemia, and insulin dependent diabetes or diabetic ketoacidosis. In practice, the development of diabetic ketoacidosis induced by acute pancreatitis is rare and generally associated with hypertriglyceridemia. However, herein we report a case of a 34-year-old female without hypertriglyceridemia, who was diagnosed with acute pancreatitis complicated with diabetic ketoacidosis. The patient was admitted with complaints of febrile sensation, back pain, and abdominal pain around the epigastric area. Levels of serum amylase and lipase were elevated to 663 U/L and 3,232 U/L. Contrast-enhanced abdominal CT showed pancreatic swelling, peri-pancreatic fat infiltration and fluid collection. The patient was initially diagnosed with simple acute pancreatitis. Though the symptoms were rapidly relieved after initiation of treatment, severe hyperglycemia (575 mg/dL), severe metabolic acidosis (pH 6.9), and ketonuria developed at four days after hospitalization. However, serum triglyceride levels remained within the normal range (134 mg/dL). Finally, the patient was diagnosed with acute pancreatitis complicated with diabetic ketoacidosis unrelated to hypertriglyceridemia. She recovered through insulin and fluid therapy, and receives insulin therapy at the outpatient clinic.

Initial impact and cost of a nationwide population screening campaign for diabetes in Brazil: A follow up study

PubMed Central

Toscano, Cristiana M; Duncan, Bruce B; Mengue, Sotero S; Polanczyk, Carísi Anne; Nucci, Luciana B; Costa e Forti, Adriana; Fonseca, Cláudio D; Schmidt, Maria Inês

2008-01-01

Background In 2001 Brazilian citizens aged 40 or older were invited to participate in a nationwide population screening program for diabetes. Capillary glucose screening tests and procedures for diagnostic confirmation were offered through the national healthcare system, diagnostic priority being given according to the severity of screening results. The objective of this study is to evaluate the initial impact of the program. Methods Positive testing was defined by a fasting capillary glucose ≥ 100 mg/dL or casual glucose ≥ 140 mg/dL. All test results were tabulated locally and aggregate data by gender and clinical categories were sent to the Ministry of Health. To analyze individual characteristics of screening tests performed, a stratified random sample of 90,106 tests was drawn. To describe the actions taken for positive screenees, a random sub-sample of 4,906 positive screenees was actively followed up through home interviews. Main outcome measures considered were the number of diabetes cases diagnosed and cost per case detected and incorporated into healthcare. Results Of 22,069,905 screening tests performed, we estimate that 3,417,106 (95% CI 3.1 – 3.7 million) were positive and that 346,168 (290,454 – 401,852) new cases were diagnosed (10.1% of positives), 319,157 (92.2%) of these being incorporated into healthcare. The number of screening tests needed to detect one case of diabetes was 64. As many cases of untreated but previously known diabetes were also linked to healthcare providers during the Campaign, the estimated number needed screen to incorporate one case into the healthcare system was 58. Total screening and diagnostic costs were US$ 26.19 million, the cost per diabetes case diagnosed being US$ 76. Results were especially sensitive to proportion of individuals returning for diagnostic confirmation. Conclusion This nationwide population-based screening program, conducted through primary healthcare services, demonstrates the feasibility, within the context of an organized national healthcare system, of screening campaigns for chronic diseases. Although overall costs were significant, cost per new case diagnosed was lower than previously reported. However, cost-effectiveness analysis based on more clinically significant outcomes needs to be conducted before this screening approach can be recommended in other settings. PMID:18808662

Outcome of recommendations for radiographic follow-up of pneumonia on outpatient chest radiography.

PubMed

Little, Brent P; Gilman, Matthew D; Humphrey, Kathryn L; Alkasab, Tarik K; Gibbons, Fiona K; Shepard, Jo-Anne O; Wu, Carol C

2014-01-01

Follow-up chest radiographs are frequently recommended by radiologists to document the clearing of radiographically suspected pneumonia. However, the clinical utility of follow-up radiography is not well understood. The purpose of this study was to examine the incidence of important pulmonary pathology revealed during follow-up imaging of suspected pneumonia on outpatient chest radiography. Reports of 29,138 outpatient chest radiography examinations performed at an academic medical center in 2008 were searched to identify cases in which the radiologist recommended follow-up chest radiography for presumed community-acquired pneumonia (n = 618). Descriptions of index radiographic abnormalities were recorded. Reports of follow-up imaging (radiography and CT) performed during the period from January 2008 to January 2010 were reviewed to assess the outcome of the index abnormality. Clinical history, demographics, microbiology, and pathology reports were reviewed and recorded. Compliance with follow-up imaging recommendations was 76.7%. In nine of 618 cases (1.5%), a newly diagnosed malignancy corresponded to the abnormality on chest radiography initially suspected to be pneumonia. In 23 of 618 cases (3.7%), an alternative nonmalignant disease corresponded with the abnormality on chest radiography initially suspected to be pneumonia. Therefore, in 32 of 618 patients (5.2%), significant new pulmonary diagnoses were established during follow-up imaging of suspected pneumonia. Follow-up imaging of radiographically suspected pneumonia leads to a small number of new diagnoses of malignancy and important nonmalignant diseases, which may alter patient management.

Bilateral Central Retinal Vein Occlusion as Presenting Feature of Chronic Myeloid Leukemia

PubMed Central

Narang, Subina; Gupta, Panchmi; Sharma, Anuj; Sood, Sunandan; Palta, Anshu; Goyal, Shilpa

2016-01-01

Central retinal vein occlusion (CRVO) is a common pathology of the retinal vasculature. Patients with CRVO usually present with a drop in visual acuity. The condition bears no specific therapy; treatment is aimed at the management of potentially blinding complications, of which there are many. With majority of cases being unilateral, bilateral CRVO is usually associated with an underlying systemic illness such as a hyperviscosity syndrome. Here, we present a case of a patient, who presented with a bilateral drop in vision diagnosed as bilateral CRVO on ophthalmic evaluation. Systemic workup revealed the presence of an underlying undiagnosed chronic myeloid leukemia. An initial presentation to the ophthalmologist is a rare occurrence in leukemic patients. This case report highlights the role of the ophthalmologist in diagnosing a potentially life-threatening hematological illness. PMID:27555710

Concurrent Van der Woude syndrome and Turner syndrome: A case report.

PubMed

Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

2017-01-01

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

Late-onset Diogenes syndrome in Chinese – an elderly case series in Hong Kong

PubMed Central

Chan, Sau Man Sandra; Leung, Pui Yiu Vivian; Chiu, Fung Kum Helen

2007-01-01

We review a consecutive case series of elders presenting to a regional psychogeriatric service in Hong Kong in 1996–2001. Eighteen elders (aged 65 and over) fulfilled the classical symptoms of Diogenes syndrome (extreme squalor, neglected physical state, unhygienic condition & social isolation with or without hoarding). A diverse clinical and socio-demographic profile was observed. Most of our clients suffered from different stages of dementia. Other diagnoses such as schizophrenia and alcohol abuse were diagnosed in this cohort as comorbid or independent conditions. Neither psychopathology nor social situations could adequately account for the initiation and perpetuation of Diogenes syndrome in some cases. The plausible psychological etiologies are discussed in the context of existential values in Chinese culture and changes in traditional family dynamics as the society modernizes. PMID:19300588

Lymphogranuloma venereum diagnoses among men who have sex with men in the U.K.: interpreting a cross-sectional study using an epidemic phase-specific framework.

PubMed

Hughes, Gwenda; Alexander, Sarah; Simms, Ian; Conti, Stefano; Ward, Helen; Powers, Cassandra; Ison, Catherine

2013-11-01

To investigate the drivers behind the epidemic expansion of lymphogranuloma venereum (LGV) cases in late 2009 to help inform infection control. An epidemic curve of all LGV diagnoses between 2003 and mid-2012 was plotted and divided into the initial detection period, and endemic, growth and hyperendemic phases. Detailed clinical and behavioural data were collected and logistic regression was used to compare the characteristics of diagnoses made during the growth and endemic phases. Between April 2003 and June 2012, 2138 cases of LGV were diagnosed. Enhanced surveillance data were available for 1370 of whom 1353 were men who have sex with men (MSM). 98% of MSM presented with proctitis, 82% were HIV positive, 20% were hepatitis C virus (HCV) antibody positive, and 67% lived in London. Growth phase cases (n=488) were more likely to report meeting sexual contacts at sex parties (11% vs. 6%, p=0.014), unprotected receptive or insertive oral intercourse (93% vs. 86%, p=0.001; 92% vs. 85%, p=0.001) and sharing sex toys (8% vs 4%; p=0.011), and to be diagnosed HIV positive (86% vs. 80%; p=0.014), than endemic phase cases (n=423). Unprotected receptive anal intercourse was equally likely to be reported in both phases (71% vs. 73%). After adjustment, cases in the growth phase were more likely to meet new contacts at sex parties (p=0.031) and be HIV positive (p=0.045). Rapid epidemic growth coincided with an intensification of unprotected sexual activity among a core population of HIV-positive MSM. Efforts to develop innovative interventions for this hard-to-reach population are needed.

[Developmental dysplasia of the hip in children with a psychomotor disorder. A risk factor for a poor outcome?].

PubMed

Pipa-Muñiz, Iván; de Los Llanos Rodríguez-Rodríguez, María; Felgueroso-Juliana, M Blanca; Riera-Campillo, Manuela; González-Herranz, Pedro

2016-09-01

Orthopaedic treatment of developmental dysplasia of the hip (DDH) has a high success rate in cases that are diagnosed early. However, the outcomes of these patients are not really known when they are subsequently diagnosed with some type of cerebral impairment. A retrospective observational study was conducted on cases of DDH with a poor outcome after orthopaedic treatment, being unknown if they had any type of psychomotor disorder. The patients were clinically and radiologically assessed, and afterwards received neurological valuation by the Child Neurology Unit. Of the 325 cases of DDH diagnosed in 293 patients, 10 patients (3%) with 16 hips with DDH were diagnosed of any cerebral impairment. All them were initially treated orthopedically. Clinical and radiologically evolution was succesful only in 4 cases (25%) being necessary any surgical procedure in the remaining 12 cases. After surgical treatment we got an improvement in the Acetabular Index (p=0.005) and Reimers Extrusion Index (p=0.042). Neck-shaft angle and Wiberg CE angle also improved but this difference was not statically significant. Cerebral impairment was diagnosed at 2,5 years of age and the begining of walking was delayed at 2.4 years of age. Cerebral impairment can lead to an unfavourable outcome in the treatment of DDH, with the relative risk of a poor outcome being 7.2 times higher in these patients. An unfavourable outcome with conventional treatment of DDH must make us suspect the presence of some type of neurological disorder, particularly if there is a delay in walking. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Subacute sclerosing panencephalitis presenting as mania

PubMed Central

Aggarwal, Ashish; Khandelwal, Ashish; Jain, Manish; Jiloha, R. C.

2011-01-01

Subacute sclerosing panencephalitis (SSPE) is a rare, invariably fatal degenerative disease of the central nervous system developing after measles infection. Besides neurological symptoms as initial presenting symptoms, rare reports of its presentation with pure psychiatric symptoms have been reported. We here report a case of 14 year old male who initially presented with manic symptoms and then subsequently diagnosed to be suffering from SSPE. Improtance of ruling our organic conditions is emphasized. PMID:21808475

Toxoplasmosis masking non-Hodgkin's lymphoma: a case report.

PubMed

Mighell, A; Carton, A; Carey, P; High, A

1995-12-01

A 39-year-old female with persistent cervical lymphadenopathy is reported. Initial investigations resulted in a diagnosis of toxoplasmosis, but subsequently the patient proved to have high grade immunoblastic non-Hodgkin's lymphoma. This paper highlights the difficulties in accurately diagnosing some cases of either toxoplasmosis or lymphoma, and briefly mentions some of the ongoing technical advances which will increase diagnostic specificity and sensitivity by early detection of genetic mutations.

Evaluation of data obtained from military disability medical administrative databases for service members with schizophrenia or bipolar disorder.

PubMed

Millikan, Amy M; Weber, Natalya S; Niebuhr, David W; Torrey, E Fuller; Cowan, David N; Li, Yuanzhang; Kaminski, Brenda

2007-10-01

We are studying associations between selected biomarkers and schizophrenia or bipolar disorder among military personnel. To assess potential diagnostic misclassification and to estimate the date of illness onset, we reviewed medical records for a subset of cases. Two psychiatrists independently reviewed 182 service medical records retrieved from the Department of Veterans Affairs. Data were evaluated for diagnostic concordance between database diagnoses and reviewers. Interreviewer variability was measured by using proportion of agreement and the kappa statistic. Data were abstracted to estimate date of onset. High levels of agreement existed between database diagnoses and reviewers (proportion, 94.7%; kappa = 0.88) and between reviewers (proportion, 92.3%; kappa = 0.87). The median time between illness onset and initiation of medical discharge was 1.6 and 1.1 years for schizophrenia and bipolar disorder, respectively. High levels of agreement between investigators and database diagnoses indicate that diagnostic misclassification is unlikely. Discharge procedure initiation date provides a suitable surrogate for disease onset.

[Pleural metastases of renal carcinoma].

PubMed

Giigoruk, O G; Lazarev, A F; Doroshenko, V S

2007-01-01

Metastases in renal carcinoma are diagnosed at initial diagnosis in 25% examinees. Traditional renal carcinoma has higher metastatic potential, is associated with worse survival of the patients compared to papillary cancer. We studied cytological characteristics of renal carcinoma metastases to the pleura in comparison with histological studies of the primary lesion using immunohistochemical findings. We examined cytologically pleural liquid in renal carcinoma metastases to the pleura in 6 patients (2.3% of carcinomatous pleuricies). High efficacy was shown by a cytocentrifuge CYTOSPIN-4. In 3 cases initial cancer was renal cell carcinoma, pleural exudation developed 2 years later, clear cell carcinoma appeared 6 years later and papillary cancer--10 years later. In the other 3 cases malignant cells were detected in new-onset cases. Renal carcinoma was diagnosed in one case. Cytological preparations were studied with identification of cytological signs typical for classic clear cell, granulocell and papillary renal cancer. Immunohistochemical examination of primary tumor lesion in the kidney discovered high proliferative activity of tumor cells by Ki-67 index to 5.28%. The tumors had solitary Bcl-2 positive cells. Expression of mutant p-53 took place in 0.93%. Her-2/neu hyperexpression was not found in the tumors of the above patients. Such immunohistochemical parameters point to poor prognosis. This is confirmed by renal carcinoma metastases to the pleura.

The utility and cost of routine follow-up procedures in the surveillance of ovarian and primary peritoneal carcinoma: a 16-year institutional review.

PubMed

Rettenmaier, N B; Rettenmaier, C R; Wojciechowski, T; Abaid, L N; Brown, J V; Micha, J P; Goldstein, B H

2010-11-23

The purpose of this study was to evaluate the number of ovarian cancer and primary peritoneal cancer (PPC) progressive disease cases identified via routine follow-up procedures and the corresponding cost throughout a 16-year period at a single medical institution. Previously undiagnosed epithelial ovarian (n=241), PPC (n=23), and concurrent ovarian and uterine (n=24) cancer patients were treated and then followed via CA-125, imaging (e.g., CT scan, chest X-ray), physical examination and vaginal cytology. In the group of 287 patients, there were 151 cases of disease progression. Serial imaging detected the highest number of progressive disease cases (66 initial and 45 confirmatory diagnoses), but the cost was rather high ($13,454 per patient recurrence), whereas CA-125 testing (74 initial and 20 corroborative diagnoses) was the least expensive ($3,924) per recurrent diagnosis. The total cost of surveillance during the 16-year period was nearly $2,400,000. Ultimately, serial imaging and the CA-125 assay detected the highest number of ovarian cancer and PCC progressive disease cases in comparison to physical examination and vaginal cytology, but nevertheless, all of the procedures were conducted at a considerable financial expense.

Tracing the decision-making process of physicians with a Decision Process Matrix.

PubMed

Hausmann, Daniel; Zulian, Cristina; Battegay, Edouard; Zimmerli, Lukas

2016-10-18

Decision-making processes in a medical setting are complex, dynamic and under time pressure, often with serious consequences for a patient's condition. The principal aim of the present study was to trace and map the individual diagnostic process of real medical cases using a Decision Process Matrix [DPM]). The naturalistic decision-making process of 11 residents and a total of 55 medical cases were recorded in an emergency department, and a DPM was drawn up according to a semi-structured technique following four steps: 1) observing and recording relevant information throughout the entire diagnostic process, 2) assessing options in terms of suspected diagnoses, 3) drawing up an initial version of the DPM, and 4) verifying the DPM, while adding the confidence ratings. The DPM comprised an average of 3.2 suspected diagnoses and 7.9 information units (cues). The following three-phase pattern could be observed: option generation, option verification, and final diagnosis determination. Residents strove for the highest possible level of confidence before making the final diagnoses (in two-thirds of the medical cases with a rating of practically certain) or excluding suspected diagnoses (with practically impossible in half of the cases). The following challenges have to be addressed in the future: real-time capturing of emerging suspected diagnoses in the memory of the physician, definition of meaningful information units, and a more contemporary measurement of confidence. DPM is a useful tool for tracing real and individual diagnostic processes. The methodological approach with DPM allows further investigations into the underlying cognitive diagnostic processes on a theoretical level and improvement of individual clinical reasoning skills in practice.

OSTEOID OSTEOMA IN SCAPHOID: CASE REPORT

PubMed Central

Severo, Antônio Lourenço; de Araújo Filho, Raimundo; Puentes, Rulby; Lemos, Marcelo Barreto; Piluski, Paulo Faiad; Lech, Osvandré

2015-01-01

Osteoid osteoma is a benign osteoblastic tumor that is unusual in the hand. A location in the carpal bones is infrequent, which leads to errors in diagnosing it because of polymorphism of the clinical symptoms. Reviewing the literature shows that nine cases of osteoid osteoma in the scaphoid have been reported. Here, one case of osteoid osteoma in the scaphoid that was initially treated as De Quervain's stenosing tenosynovitis is reported, with a definitive diagnosis that was delayed for five years. PMID:27047881

Extra osseous primary Ewing's sarcoma.

PubMed

Ali, Syed Asad; Muhammad, Agha Taj; Soomro, Abdul Ghani; Siddiqui, Akmal Jamal

2010-01-01

The case of 20 years old boy with an extra osseous Ewing's sarcoma is described. He was initially diagnosed as a case of infiltrative malignant tumour of left suprarenal gland on the basis of preoperative workup but postoperative biopsy of surgically excised specimen confirmed Extra-osseous Ewing's Sarcoma (EES) suprarenal gland with no evidence of malignancy on skeletal scintiscan, bone marrow aspirate and histopathology Suprarenal location of primary EES is unknown and probably has not been reported in literature. We report a unique case of EES.

Ecthyma Gangrenosum: Vulvar Ulcers, Pseudomonas and Pancytopenia, A Case Report of an 18- Month-Old Female.

PubMed

Todd, Nicole; Boucher, Julia E; Bassal, Mylène; Dumont, Tania; Fleming, Nathalie

2018-06-06

An 18-month-old female presenting with severe vulvar ulcers and pancytopenia with investigations revealing P.aeruginosa bacteremia. Previously healthy 18-month-old female presented with 6 days of fevers, vulvar rash and ulcers. Vulvar cultures demonstrated S.aureus and P.aeruginosa. Bloodwork showed pancytopenia and P.aeruginosa bacteremia. She started broad spectrum antibiotics. Bone marrow aspirate revealed a hypocellular marrow with erythroid dysplasia. Vulvar ulcers progressed rapidly, therefore MRI was performed to rule out necrotizing fasciitis. She was diagnosed with Ecthyma Gangrenosum (EG). Three months after initial presentation, she was diagnosed with precursor B cell acute lymphoblastic leukemia (ALL). This case highlights that health care providers should suspect EG when severe vulvar ulcers are present with P.aeruginosa infection and neutropenia. As EG poses significant morbidity and mortality, its presence should prompt aggressive antimicrobial therapy and mobilization of a multi-disciplinary team to initiate work-up for an underlying immunodeficiency syndrome or malignancy. This case also illustrates that surgical debridement may be avoided in certain patients with EG as long as meticulous wound care and close monitoring with a multidisciplinary team are in place. Copyright © 2018. Published by Elsevier Inc.

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

PubMed Central

Lessel, Davor; Hisama, Fuki M.; Szakszon, Katalin; Saha, Bidisha; Sanjuanelo, Alexander Barrios; Salbert, Bonnie A.; Steele, Pamela D.; Baldwin, Jennifer; Brown, W. Ted; Piussan, Charles; Plauchu, Henri; Szilvássy, Judit; Horkay, Edit; Hoögel, Josef; Martin, George M.; Herr, Alan J.; Oshima, Junko; Kubisch, Christian

2015-01-01

Segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ. A prototypic example is the Werner syndrome (WS), caused by biallelic germline mutations in the Werner helicase gene (WRN). While heterozygous lamin A/C (LMNA) mutations are found in a few nonclassical cases of WS, another 10%–15% of patients initially diagnosed with WS do not have mutations in WRN or LMNA. Germline POLD1 mutations were recently reported in five patients with another segmental progeroid disorder: mandibular hypoplasia, deafness, progeroid features syndrome. Here, we describe eight additional patients with heterozygous POLD1 mutations, thereby substantially expanding the characterization of this new example of segmental progeroid disorders. First, we identified POLD1 mutations in patients initially diagnosed with WS. Second, we describe POLD1 mutation carriers without clinically relevant hearing impairment or mandibular underdevelopment, both previously thought to represent obligate diagnostic features. These patients also exhibit a lower incidence of metabolic abnormalities and joint contractures. Third, we document postnatal short stature and premature greying/loss of hair in POLD1 mutation carriers. We conclude that POLD1 germline mutations can result in a variably expressed and probably underdiagnosed segmental progeroid syndrome. PMID:26172944

Hair follicle nevus - A dermoscopic approach.

PubMed

Okada, Junna; Moroi, Yoichi; Tsujita, Jun; Takahara, Masakazu; Urabe, Kazunori; Kiryu, Hiromaro; Furue, Masutaka

2008-01-01

We report the case of a 26-year-old man who presented with small soft nodules with tiny hairs that had been present on his nose since childhood. The nodules were initially diagnosed as melanocytic nevi. However, dermoscopy showed many uniform hair follicles and an interfollicular 'pseudo-pigment network' in the nodules. Histologically, many well-differentiated hair follicles and sebaceous glands were seen in the dermis. Serial sectioning revealed neither central cysts nor a central canal. We therefore diagnosed this case as hair follicle nevus. Dermoscopy is now widely used as a non-invasive, in vivo technique for the diagnosis of pigmented skin lesions. Hair follicle nevus is a very rare disease and this is the first report to demonstrate the manifestation of this clinical entity by dermoscopy.

Omasal dilation and displacement in 4 Holstein dairy cows

PubMed Central

Bicalho, Rodrigo C.; Mayers, Heather M.; Cheong, Soon Hon; Rosa, Brielle V.; Guard, Charles L.

2009-01-01

Cases of omasal dilation and displacement in 4 dairy cows are described. The disease was initially diagnosed by a combination of history and clinical signs that included right-sided abdominal distension, rectal palpation, and decreased milk production. The condition was confirmed by laparotomy or necropsy. PMID:19436447

Invasive Aspergillosis with Disseminated Skin Involvement in a Patient with Acute Myeloid Leukemia: A Rare Case

PubMed Central

Mert, Duygu; Iskender, Gülşen; Duygu, Fazilet; Merdin, Alparslan; Dal Mehmet, Sinan; Dogan, Mehmet; Tekgündüz, Emre; Ertek, Mustafa; Altuntaş, Fevzi

2017-01-01

Invasive pulmonary aspergillosis is most commonly seen in immunocompromised patients. Besides, skin lesions may also develop due to invasive aspergillosis in those patients. A 49-year-old male patient was diagnosed with acute myeloid leukemia. The patient developed bullous and zosteriform lesions on the skin after the 21st day of hospitalization. The skin biopsy showed hyphae. Disseminated skin aspergillosis was diagnosed to the patient. Voricanazole treatment was initiated. The patient was discharged once the lesions started to disappear. PMID:28626542

Acquired auditory agnosia in childhood and normal sleep electroencephalography subsequently diagnosed as Landau-Kleffner syndrome: a report of three cases.

PubMed

van Bogaert, Patrick; King, Mary D; Paquier, Philippe; Wetzburger, Catherine; Labasse, Catherine; Dubru, Jean-Marie; Deonna, Thierry

2013-06-01

  We report three cases of Landau-Kleffner syndrome (LKS) in children (two females, one male) in whom diagnosis was delayed because the sleep electroencephalography (EEG) was initially normal.   Case histories including EEG, positron emission tomography findings, and long-term outcome were reviewed.   Auditory agnosia occurred between the age of 2 years and 3 years 6 months, after a period of normal language development. Initial awake and sleep EEG, recorded weeks to months after the onset of language regression, during a nap period in two cases and during a full night of sleep in the third case, was normal. Repeat EEG between 2 months and 2 years later showed epileptiform discharges during wakefulness and strongly activated by sleep, with a pattern of continuous spike-waves during slow-wave sleep in two patients. Patients were diagnosed with LKS and treated with various antiepileptic regimens, including corticosteroids. One patient in whom EEG became normal on hydrocortisone is making significant recovery. The other two patients did not exhibit a sustained response to treatment and remained severely impaired.   Sleep EEG may be normal in the early phase of acquired auditory agnosia. EEG should be repeated frequently in individuals in whom a firm clinical diagnosis is made to facilitate early treatment. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

Unusual echocardiographic features seen in a case of giant cell myocarditis

PubMed Central

Kochar, Minisha; López-Candales, Angel; Ramani, Gautam; Rajagopalan, Navin; Edelman, Kathy

2008-01-01

The case of an 18-year-old college football player with a recent history of streptococcal pharyngitis who was experiencing progressive disabling dyspnea on exertion with easy fatigability and lack of stamina, and was taken to the hospital after a syncopal episode is described. The patient was initially diagnosed with heart failure and treated accordingly. However, because of a fulminant clinical deterioration, an endomyocardial biopsy was recommended, which showed focal giant cell transformation consistent with giant cell myocarditis. Treatment with methylprednisolone and cyclosporine was promptly initiated. Several apical clots were noted during treatment, but the patient attained full recovery with treatment. PMID:18987760

Unusual echocardiographic features seen in a case of giant cell myocarditis.

PubMed

Kochar, Minisha; López-Candales, Angel; Ramani, Gautam; Rajagopalan, Navin; Edelman, Kathy

2008-11-01

The case of an 18-year-old college football player with a recent history of streptococcal pharyngitis who was experiencing progressive disabling dyspnea on exertion with easy fatigability and lack of stamina, and was taken to the hospital after a syncopal episode is described. The patient was initially diagnosed with heart failure and treated accordingly. However, because of a fulminant clinical deterioration, an endomyocardial biopsy was recommended, which showed focal giant cell transformation consistent with giant cell myocarditis. Treatment with methylprednisolone and cyclosporine was promptly initiated. Several apical clots were noted during treatment, but the patient attained full recovery with treatment.

Acute focal dystonia induced by a tricyclic antidepressant in a patient with Wilson disease: a case report.

PubMed

Litwin, T; Chabik, G; Członkowska, A

2013-01-01

The authors present the case of a 19-year-old patient with Wilson disease (WD) who developed symptoms of acute focal dystonia of the left hand (a 'starfish' hand presentation) shortly after treatment with the tricyclic antidepressant clomipramine. The diagnosis of WD was made 8 months earlier based on abnormal copper metabolism parameters and was confirmed by genetic testing. Initially, the patient presented with akathisia, sialorrhea, oromandibular dystonia (occasionally grimacing) and slight dysarthria. The patient's symptoms diminished after treatment with d-penicillamine was initiated. No further deterioration was observed after copper-chelating therapy was started. The authors diagnosed acute focal dystonia induced by clomipramine. Botulinum toxin and intensive rehabilitation was initiated; complete regression of hand dystonia was observed. Based on the case, the authors suggest that care should be exercised with regard to starting medications that could potentially impact the extrapyramidal system in WD patients.

[Monogenic form of diabetes mellitus due to HNF4α mutation (MODY-1) - the first case in Hungary].

PubMed

Jermendy, György; Balogh, István; Gaál, Zsolt

2016-03-20

The classification of diabetes mellitus in adolescents and young adults is often difficult. The diagnosis of the monogenic form of diabetes may have substantial influence on quality of life, prognosis and the choice of the appropriate treatment of affected patients. Among MODY (maturity-onset of diabetes in the young) MODY-1 is rarely detected, only 13 families were described in 2000, and 103 different mutations in 173 families were known in 2013 worldwide. The authors present the first Hungarian case of a monogenic form of diabetes due to HNF4α mutation (MODY-1). The diabetes of the index patient No. 1 (42-year-old woman with insulin treated diabetes) was diagnosed as gestational diabetes at age of 20 when she was treated with diet only. Later, insulin treatment has been initiated when marked hyperglycaemia was detected during an episode of acute pneumonia at age of 26. The diabetes of the index patient No. 2 (20-year-old daughter of the index patient No. 1, treated also with insulin) was diagnosed as type 2 diabetes at age of 13 and the patient was treated with diet only. Later the classification was modified to type 1 and insulin therapy was initiated at age of 14. The manifestation of diabetes, the familial occurrence and the low dose insulin requirement were suggestive for monogenic diabetes. Using molecular genetic method a mutation (c.869G>A, p.R290H) of HNF4α gene was found and MODY-1 was diagnosed in both cases. Insulin therapy was switched to treatment with low dose sulfanylurea and an excellent glycaemic control was achieved and sustained at follow-up of 1-year. No further positive cases were found during screening of other family members.

High Mortality and Coinfection in a Prospective Cohort of Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome Patients with Histoplasmosis in Guatemala.

PubMed

Samayoa, Blanca; Roy, Monika; Cleveland, Angela Ahlquist; Medina, Narda; Lau-Bonilla, Dalia; Scheel, Christina M; Gomez, Beatriz L; Chiller, Tom; Arathoon, Eduardo

2017-07-01

Histoplasmosis is one of the most common and deadly opportunistic infections among persons living with human immunodeficiency virus (HIV)/acquired immune deficiency syndrome in Latin America, but due to limited diagnostic capacity in this region, few data on the burden and clinical characteristics of this disease exist. Between 2005 and 2009, we enrolled patients ≥ 18 years of age with suspected histoplasmosis at a hospital-based HIV clinic in Guatemala City. A case of suspected histoplasmosis was defined as a person presenting with at least three of five clinical or radiologic criteria. A confirmed case of histoplasmosis was defined as a person with a positive culture or urine antigen test for Histoplasma capsulatum . Demographic and clinical data were also collected and analyzed. Of 263 enrolled as suspected cases of histoplasmosis, 101 (38.4%) were confirmed cases. Median time to diagnosis was 15 days after presentation (interquartile range [IQR] = 5-23). Crude overall mortality was 43.6%; median survival time was 19 days (IQR = 4-69). Mycobacterial infection was diagnosed in 70 (26.6%) cases; 26 (25.7%) histoplasmosis cases were coinfected with mycobacteria. High mortality and short survival time after initial symptoms were observed in patients with histoplasmosis. Mycobacterial coinfection diagnoses were frequent, highlighting the importance of pursuing diagnoses for both diseases.

Atypical manifestation of progressive outer retinal necrosis in AIDS patient with CD4+ T-cell counts more than 100 cells/microL on highly active antiretroviral therapy.

PubMed

Vichitvejpaisal, Pornpattana; Reeponmahar, Somporn; Tantisiriwat, Woraphot

2009-06-01

Typical progressive outer retinal necrosis (PORN) is an acute ocular infectious disease in acquired immunodeficiency syndrome (AIDS) patients with extremely low CD4+ T-cell counts. It is a form of the Varicella- zoster virus (VZV) infection. This destructive infection has an extremely rapid course that may lead to blindness in affected eyes within days or weeks. Attempts at its treatment have had limited success. We describe the case of a bilateral PORN in an AIDS patient with an initial CD4+ T-cell count >100 cells/microL that developed after initiation of highly active antiretroviral therapy (HAART). A 29-year-old Thai female initially diagnosed with human immunodeficiency virus (HIV) in 1998, presented with bilaterally decreased visual acuity after initiating HAART two months earlier. Multiple yellowish spots appeared in the deep retina without evidence of intraocular inflammation or retinal vasculitis. Her CD4+ T-cell count was 127 cells/microL. She was diagnosed as having PORN based on clinical features and positive VZV in the aqueous humor and vitreous by polymerase chain reaction (PCR). Despite combined treatment with intravenous acyclovir and intravitreous ganciclovir, the patient's visual acuity worsened with no light-perception in either eye. This case suggests that PORN should be included in the differential diagnosis of reduced visual acuity in AIDS patients initiating HAART with higher CD4+ T-cell counts. PORN may be a manifestation of the immune reconstitution syndrome.

Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.

PubMed

Svojgr, Karel; Sumerauer, David; Puchmajerova, Alena; Vicha, Ales; Hrusak, Ondrej; Michalova, Kyra; Malis, Josef; Smisek, Petr; Kyncl, Martin; Novotna, Drahuse; Machackova, Eva; Jencik, Jan; Pycha, Karel; Vaculik, Miroslav; Kodet, Roman; Stary, Jan

2016-03-01

Fanconi anemia, complementation group D1 with bi-allelic FANCD1 (BRCA2) mutations, is a very rare genetic disorder characterized by early onset of childhood malignancies, including acute leukemia, brain cancer and nephroblastoma. Here, we present a case report of a family with 3 affected children in terms of treatment outcome, toxicity and characterization of the malignancies using comprehensive cytogenetic analysis. The first child was diagnosed with T-cell acute lymphoblastic leukemia when he was 11 months old. During chemotherapy, he suffered from repeated pancytopenia, sepsis and severe vincristine polyneuropathy, and 18 months after primary diagnosis, he succumbed to secondary acute monocytic leukemia. The second child was diagnosed with stage 2 triphasic nephroblastoma (Wilms tumor), when he was 3 years and 11 months old. During chemotherapy, he suffered from vincristine polyneuropathy. Currently, he is in complete remission, 29 months following the initial diagnosis. The third child was diagnosed with medulloblastoma with classical histology, when she was 4 years and 5 months old. After the first cycle of chemotherapy, she suffered from prolonged pancytopenia, sepsis and severe skin and mucosal toxicity. Six weeks after primary diagnosis, a first relapse in the posterior fossa was diagnosed, and at 7 and half months after primary diagnosis, a second relapse was diagnosed that led to the patient's death. Our case report underscores tumor heterogeneity, treatment toxicity and poor outcome in Fanconi anemia patients of complementation group D1. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Stages of syphilis in South China - a multilevel analysis of early diagnosis.

PubMed

Wong, Ngai Sze; Huang, Shujie; Zheng, Heping; Chen, Lei; Zhao, Peizhen; Tucker, Joseph D; Yang, Li Gang; Goh, Beng Tin; Yang, Bin

2017-01-31

Early diagnosis of syphilis and timely treatment can effectively reduce ongoing syphilis transmission and morbidity. We examined the factors associated with the early diagnosis of syphilis to inform syphilis screening strategic planning. In an observational study, we analyzed reported syphilis cases in Guangdong Province, China (from 2014 to mid-2015) accessed from the national case-based surveillance system. We categorized primary and secondary syphilis cases as early diagnosis and categorized latent and tertiary syphilis as delayed diagnosis. Univariate analyses and multivariable logistic regressions were performed to identify the factors associated with early diagnosis. We also examined the factors associated with early diagnosis at the individual and city levels in multilevel logistic regression models with cases nested by city (n = 21), adjusted for age at diagnosis and gender. Among 83,944 diagnosed syphilis cases, 22% were early diagnoses. The city-level early diagnosis rate ranged from 7 to 46%, consistent with substantial geographic variation as shown in the multilevel model. Early diagnosis was associated with cases presenting to specialist clinics for screening, being male and attaining higher education level. Cases received syphilis testing in institutions and hospitals, and diagnosed in hospitals were less likely to be in early diagnosis. At the city-level, cases living in a city equipped with more hospitals per capita were less likely to be early diagnosis. To enhance early diagnosis of syphilis, city-specific syphilis screening strategies with a mix of passive and client/provider-initiated testing might be a useful approach.

The pitfalls in cytology diagnosis of poorly differentiated neuroendocrine carcinoma of lung and their treatment response.

PubMed

Saha, Debarshi; Kumar, Ankit; Banerjee, Sourjya; Nirupama, M; Sridevi, H B; Garg, Priya; Lobo, Flora D

2017-01-01

Lung is the most common site of small cell carcinoma (SCLC) - a poorly differentiated neuroendocrine carcinoma (PDNEC). SCLC comprises 15-20% of the invasive cancers of the lung. This study was conducted to appraise the accuracy and pitfalls of the diagnosis of PDNEC on cytology along with treatment responses if available. Retrospective study for 2 years yielded 21 cases on cytology. Slides of fine-needle aspiration of lymph nodes, the tumor, bronchial brush, and bronchoalveolar lavage specimens were used. The histological correlation was obtained as were treatment responses. Eighteen SCLCs were confirmed on review. Of these, 13 initial reports were concordant and five, discordant. The rest three cases which initially reported as SCLC were found to be negative (2) and combined SCLC (1). One SCLC with concordant initial and reviewed diagnoses failed to confirm on histopathology. The patients, all heavy smokers, were predominantly males in the seventh to eighth decade age group. The sensitivity and specificity of reviewed diagnoses were better than that of the original. The difference between histopathology and cytology diagnoses (reviewed and original) was statistically insignificant. All patients were categorized as "extensive stage" by positron emission tomography-computerized tomography, and five were treated with etoposide and cisplatin with/without radiotherapy. Age group (61-70) and gender (males) distribution were statistically significant. Intermediate variants of SCLC may be misdiagnosed as adenocarcinoma. Similarly, combined SCLC may be missed on cytology if the observer does not sustain a high index of suspicion. Unequivocal cytology diagnosis opposed to negative histopathology report demands repeat biopsy.

Risk factors for under-diagnosis of gastric intraepithelial neoplasia and early gastric carcinoma in endoscopic forceps biopsy in comparison with endoscopic submucosal dissection in Chinese patients.

PubMed

Xu, Guifang; Zhang, Weijie; Lv, Ying; Zhang, Bin; Sun, Qi; Ling, Tingsheng; Zhang, Xiaoqi; Zhou, Zhihua; Wang, Lei; Huang, Qin; Zou, Xiaoping

2016-07-01

Differences in pathologic diagnosis between endoscopic forceps biopsy (EFB) and endoscopic submucosal dissection (ESD) for gastric intraepithelial neoplasia (GIN) and early gastric carcinoma (EGC) in Chinese patients remain unknown. The aim of the study was to investigate risk factors for under-diagnosed pathology in initial EFB, compared to final ESD. We reviewed endoscopic and histopathologic findings for tumor location, size, macroscopic pattern, nodularity, erythema, erosion, GIN (low and high grade), and EGC diagnosed with the WHO criteria. Differences in those features between EFB and ESD were compared and risk factors for under-diagnosis by EFB were analyzed. Although concordant in most (74.9 %) cases between EFBs and ESDs, pathological diagnoses in 57 (25.1 %) cases were upgraded in ESDs. Compared to the concordant group, the lesion size ≥2 cm, and depressed and excavated patterns were significantly more frequent in the upgraded group. Further multivariate regression analysis demonstrated the depressed pattern and lesion size ≥2 cm as independent risk factors for upgraded pathology with the odds ratio of 5.778 (95 % confidence interval 2.893-11.542) and 2.535 (95 % confidence interval 1.257-5.111), respectively. Lesion size ≥2.0 cm and the depressed pattern at initial EFB were independent risk factors for pathologic upgrade to advanced diseases in ESD. Therefore, these endoscopic characteristics should be considered together with the initial EFB diagnosis to guide the optimal clinical management of patients with GIN and EGC.

Yellow Fever outbreak in Darfur, Sudan in October 2012; the initial outbreak investigation report.

PubMed

Soghaier, Mohammed A; Hagar, Ahmed; Abbas, Mohammed A; Elmangory, Mutasim M; Eltahir, Khalid M; Sall, Amadou A

2013-10-01

Sudan is subject to repeated outbreaks, including Viral Hemorrhagic Fever (VHF), which is considered to be a very serious illness. Yellow Fever (YF) outbreaks in Sudan have been reported from the 1940s through 2005. In 2012, a new outbreak of YF occurred in the Darfur region. To identify the potential for an outbreak, to diagnose the disease and to be able to recognize its cause among the initial reported cases. >This is a descriptive and investigative field study that applies standard communicable disease outbreak investigation steps. The study involved clinical, serological, entomological and environmental surveys. The field investigation confirmed the outbreak and identified its cause to be YF. National surveillance systems should be strong enough to detect VHFs in a timely manner. Local health facilities should be prepared to promptly treat the initial cases because the case fatality ratios (CFRs) are usually very high among the index cases. Copyright © 2013 King Saud Bin Abdulaziz University for Health Sciences. Published by Elsevier Ltd. All rights reserved.

Suffocation and poisoning--the hard-hitting side of Munchausen syndrome by proxy.

PubMed

Vennemann, B; Bajanowski, T; Karger, B; Pfeiffer, H; Köhler, H; Brinkmann, B

2005-03-01

Munchausen syndrome by proxy (MSBP) is a severe and difficult to diagnose form of child abuse characterised by the simulation, aggravation or production of symptoms of illness in a child by an adult. MSBP often leads to multiple hospitalisations and has a high mortality and long-term morbidity. This study describes the cases of 5 families with 8 children affected who presented with unexplained neurological or gastrointestinal symptoms or even loss of consciousness. All were victims of poisoning or suffocation by their mothers. Two of those children died and were initially diagnosed as SIDS or natural death, respectively. They were only recognised as MSBP victims after another sibling had fallen ill with similar symptoms. The cases are discussed in consideration of the relevant literature. In addition warning signs of this forensically relevant syndrome and a strategy for the management of suspected MSBP cases are described.

Increased suicide risk and clinical correlates of suicide among patients with Parkinson's disease.

PubMed

Lee, Taeyeop; Lee, Hochang Benjamin; Ahn, Myung Hee; Kim, Juyeon; Kim, Mi Sun; Chung, Sun Ju; Hong, Jin Pyo

2016-11-01

Parkinson's disease (PD) is a debilitating, neurodegenerative condition frequently complicated by psychiatric symptoms. Patients with PD may be at higher risk for suicide than the general population, but previous estimates are limited and conflicting. The aim of this study is to estimate the suicide rate based on the clinical case registry and to identify risk factors for suicide among patients diagnosed with PD. The target sample consisted of 4362 patients diagnosed with PD who were evaluated at a general hospital in Seoul, South Korea, from 1996 to 2012. The standardized mortality ratio for suicide among PD patients was estimated. In order to identify the clinical correlates of suicide, case-control study was conducted based on retrospective chart review. The 29 suicide cases (age: 62.3 ± 13.7 years; females: 34.5%) were matched with 116 non-suicide controls (age: 63.5 ± 9.2 years; females 56.9%) by the year of initial PD evaluation. The SMR for suicide in PD patients was 1.99 (95% CI 1.33-2.85). Mean duration from time of initial diagnosis to suicide among cases was 6.1 ± 3.5 years. Case-control analysis revealed that male, initial extremity of motor symptom onset, history of depressive disorder, delusion, any psychiatric disorder, and higher L-dopa dosage were significantly associated with suicide among PD patients. Other PD-related variables such as UPDRS motor score were not significantly associated with death by suicide. Suicide risk in PD patients is approximately 2 times higher than that in the general population. Psychiatric disorders, and also L-dopa medication need further attention with respect to suicide. Copyright © 2016 Elsevier Ltd. All rights reserved.

Unusual case of anorexia.

PubMed

Darmaun, Laura; Aubry, Estelle; Lejeune, Sophie; Sudour-Bonnange, Helene

2018-06-04

We report the case of a 15-year-old female patient suffering from progressive anorexia, weight loss and recurrent abdominal pain, initially diagnosed as anorexia nervosa. She eventually presented with severe malnutrition and acute bowel obstruction, revealing a mass of the transverse colon. A well-differentiated Lieberkühn adenocarcinoma was established by histology. The patient underwent transverse and right colectomy and was treated with adjuvant chemotherapy. Colorectal cancer (CRC) is predominantly a disease of older adults and is extremely rare in children and adolescents. Seldom suspected, it is more likely to be diagnosed at an advanced stage, with unfavourable tumour histology and poor outcome. Young patients diagnosed with CRC should receive genetic counselling regardless of their family history or tumour type. This reports' take-home message is that recurrent and persistent digestive symptoms in the young should alert physicians and lead to further investigations. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Primary mucinous carcinoma with rhabdoid cells of the thyroid gland: a case report.

PubMed

Matsuo, Mioko; Tuneyoshi, Masazumi; Mine, Mari

2016-06-10

Primary mucinous carcinoma of the thyroid gland is a rare disease; only 6 cases of primary mucinous carcinoma of the thyroid have been previously reported. Primary mucinous carcinoma of the thyroid gland with incomplete tumor resection tends to be associated with a poor prognosis, resulting in death within a few months. An early and appropriate diagnosis may contribute to improvement in patient prognosis; however, it is extremely difficult to diagnose primary mucinous carcinoma of the thyroid. We present the seventh reported case of primary mucinous carcinoma in the thyroid gland; moreover, rhabdoid cells were detected, which, to our knowledge, is a novel finding. An 81-year-old Japanese woman was initially diagnosed with a poorly differentiated thyroid carcinoma, and she underwent a hemithyroidectomy. Pathological examination revealed the presence of abundant mucus and agglomeration of large atypical cells. Rhabdoid cells were also seen scattered among the tumor cells. Immunostaining was performed for various markers, and on the basis of these results, we diagnosed the lesion as primary mucinous carcinoma with rhabdoid cells in the thyroid gland. Ten months after surgery, recurrence was noted in the paratracheal lymph nodes; therefore, total resection of the residual thyroid gland and paratracheal lymphadenectomy with thyroid-stimulating hormone suppression were performed. The patient is currently alive and disease-free. The current case is of interest not only because of the rare histological findings, but also because the patient achieved long-term survival following diagnosis of a mucinous carcinoma. We believe this report will be helpful for diagnosing future cases of mucinous carcinoma of the thyroid.

Acute Severe Aortic Regurgitation: Imaging with Pathological Correlation.

PubMed

Janardhanan, Rajesh; Pasha, Ahmed Khurshid

2016-03-01

Acute aortic regurgitation (AR) is an important finding associated with a wide variety of disease processes. Its timely diagnosis is of utmost importance. Delay in diagnosis could prove fatal. We describe a case of acute severe AR that was timely diagnosed using real time three-dimensional (3D) transesophageal echocardiogram (3D TEE). Not only did it diagnose but also the images obtained by 3D TEE clearly matched with the pathologic specimen. Using this sophisticated imaging modality that is mostly available at the tertiary centers helped in the timely diagnosis, which lead to the optimal management saving his life. Echocardiography and especially 3D TEE can diagnose AR very accurately. Surgical intervention is the definitive treatment but medical therapy is utilized to stabilize the patient initially.

Cytomegalovirus Colitis in a Critically Ill Patient Following Severe Legionella Pneumonia with Multiple Organ Failure.

PubMed

Nakashima, Kei; Aoshima, Masahiro; Suzuki, Fumi; Watanabe, Junko; Otsuka, Yoshihito

2016-01-01

A 68-year-old man visited an emergency department complaining of dyspnea. He was diagnosed to have Legionella pneumonia with multiple organ failure. Although his multiple organ failure improved, he suffered from persistent abdominal pain and diarrhea with continuous minor bleeding. Colonoscopy revealed a longitudinal ulcer of the rectum, below the peritoneal reflection. He was diagnosed with cytomegalovirus (CMV) colitis. Antiviral therapy with ganciclovir was initiated. He finally underwent a colostomy after a bowel stricture caused an intestinal outlet obstruction, which made oral intake impossible. Based on the present case, we believe that CMV colitis must be considered as one of the differential diagnoses when critically ill patients develop continuous diarrhea and abdominal pain.

Brain metastases in patients diagnosed with a solid primary cancer during childhood: experience from a single referral cancer center.

PubMed

Suki, Dima; Khoury Abdulla, Rami; Ding, Minming; Khatua, Soumen; Sawaya, Raymond

2014-10-01

Metastasis to the brain is frequent in adult cancer patients but rare among children. Advances in primary tumor treatment and the associated prolonged survival are said to have increased the frequency of brain metastasis in children. The authors present a series of cases of brain metastases in children diagnosed with a solid primary cancer, evaluate brain metastasis trends, and describe tumor type, patterns of occurrence, and prognosis. Patients with brain metastases whose primary cancer was diagnosed during childhood were identified in the 1990-2012 Tumor Registry at The University of Texas M.D. Anderson Cancer Center. A review of their hospital records provided demographic data, history, and clinical data, including primary cancer sites, number and location of brain metastases, sites of extracranial metastases, treatments, and outcomes. Fifty-four pediatric patients (1.4%) had a brain metastasis from a solid primary tumor. Sarcomas were the most common (54%), followed by melanoma (15%). The patients' median ages at diagnosis of the primary cancer and the brain metastasis were 11.37 years and 15.03 years, respectively. The primary cancer was localized at diagnosis in 48% of patients and disseminated regionally in only 14%. The primary tumor and brain metastasis presented synchronously in 15% of patients, and other extracranial metastases were present when the primary cancer was diagnosed. The remaining patients were diagnosed with brain metastasis after initiation of primary cancer treatment, with a median presentation interval of 17 months after primary cancer diagnosis (range 2-77 months). At the time of diagnosis, the brain metastasis was the first site of systemic metastasis in only 4 (8%) of the 51 patients for whom data were available. Up to 70% of patients had lung metastases when brain metastases were found. Symptoms led to the brain metastasis diagnosis in 65% of cases. Brain metastases were single in 60% of cases and multiple in 35%; 6% had only leptomeningeal disease. The median Kaplan-Meier estimates of survival after diagnoses of primary cancer and brain metastasis were 29 months (95% CI 24-34 months) and 9 months (95% CI 6-11 months), respectively. Untreated patients survived for a median of 0.9 months after brain metastasis diagnosis (95% CI 0.3-1.5 months). Those receiving treatment survived for a median of 8 months after initiation of therapy (95% CI 6-11 months). The results of this study challenge the current notion of an increased incidence of brain metastases among children with a solid primary cancer. The earlier diagnosis of the primary cancer, prior to its dissemination to distant sites (especially the brain), and initiation of presumably more effective treatments may support such an observation. However, although the actual number of cases may not be increasing, the prognosis after the diagnosis of a brain metastasis remains poor regardless of the management strategy.

Fat embolism syndrome in femoral shaft fractures: does the initial treatment make a difference?

PubMed

Silva, Jânio José Alves Bezerra; Diana, Diogo de Almeida; Salas, Victor Eduardo Roman; Zamboni, Caio; Hungria Neto, José Soares; Christian, Ralph Walter

2017-01-01

To identify the risk factors correlated with the initial treatment performed. This is a retrospective study involving a total of 272 patients diagnosed with femoral shaft fractures. Of the patients, 14% were kept at rest until the surgical treatment, 52% underwent external fixation, 10% received immediate definitive treatment, and 23% remained in skeletal traction (23%) until definitive treatment. There were six cases of fat embolism syndrome (FES), which showed that polytrauma is the main risk factor for its development and that initial therapy was not important. Polytrauma patients have a greater chance of developing FES and there was no influence from the initial treatment.

Benign Granuloma Masquerading as Squamous Cell Carcinoma Due to a “Floater”

PubMed Central

Prat, Madeleine P; Hostler, David C

2017-01-01

Pathology specimen cross-contamination is a rare phenomenon in diagnostic pathology. Such “floaters” may result in delayed, missed or erroneous diagnoses. We describe the case of a patient with benign granuloma of the lung initially misdiagnosed as squamous cell carcinoma due to a “floater.” PMID:29164012

The Treatment of the Behavioral Sequelae of Autism with Dextromethorphan: A Case Report

ERIC Educational Resources Information Center

Woodard, Cooper; Groden, June; Goodwin, Matthew; Shanower, Cori; Bianco, Joanne

2005-01-01

Dextromethorphan is the d-isomer of levorphenol, and an ingredient in antitussive preparations. A 10 year-old male diagnosed with Autistic Disorder, Pervasive Developmental Disorder, and Generalized Anxiety Disorder was administered this medication initially to treat a medical condition. This became a quasi-experimental ABAB design (A = baseline,…

Managing Chronic Pain in People with Learning Disabilities: A Case Study

ERIC Educational Resources Information Center

Lewis, Sarah; Bell, Dorothy; Gillanders, David

2007-01-01

Chronic pain is a prevalent, under-diagnosed problem in the learning disability population. This is in part due to communication problems, unrecognized pain behaviours and the effects of medication. As a consequence, chronic pain often goes untreated and causes ongoing distress. This paper initially describes the main research that has been…

Presence of gas in left ventricle due to infective endocarditis.

PubMed

Laiq, Zenab; Yarmohammadi, Hirad; Nabeel, Yassar; Adatya, Sirtaz

2016-01-01

Gas in myocardium is a rare manifestation of infective endocarditis caused by gas producing bacteria. We present a case of infective endocarditis caused by Citrobacter Koseri initially diagnosed by computed tomography and confirmed with transesophageal echocardiogram. Copyright © 2016 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.

Coagulopathy as a complication of kidney biopsies in paediatric systemic lupus erythematosus patients with antiphospholipid syndrome.

PubMed

Nagata, Hiroko; Sato, Mai; Ogura, Masao; Yoshikawa, Takahisa; Yamamoto, Kazuna; Matsumura, Sohshi; Kano, Yuji; Saida, Ken; Sako, Mayumi; Kamei, Koichi; Yoshioka, Takako; Ogata, Kentaro; Ito, Shuichi; Ishikura, Kenji

2018-06-01

Children with systemic lupus erythematosus (SLE) generally undergo a pretreatment kidney biopsy. However, some of these patients, especially those with antiphospholipid syndrome (APS), may experience serious coagulopathic complications. We report herein two cases of paediatric SLE with APS in which, despite normal blood test results, the disparate coagulopathic complications of haemorrhage and embolism developed following a kidney biopsy. Case 1 was, an 8-year-old male in whom, primary APS was initially diagnosed. Fourteen months later SLE was diagnosed. Based on a percutaneous kidney biopsy, International Society of Nephrology and the Renal Pathology Society (ISN/RPS) class III-A lupus nephritis was histologically diagnosed. On post-biopsy Day 9, a giant haematoma in the fascia of the left kidney developed and was accompanied by changes in the vital signs. Case 2, a 13-year-old male, initially received the diagnosis of SLE with APS and underwent two courses of pulse methylprednisolone therapy. His coagulation abnormalities improved, and a percutaneous needle kidney biopsy was performed, leading to the histological diagnosis of ISN/RPS class III-A lupus nephritis. Furthermore, thrombotic microangiopathy was also detected in the renal histopathology. On post biopsy Day 6, the patient experienced right leg pain. A contrast CT and lower extremity ultrasonography detected a massive deep vein thrombosis and partial left pulmonary artery thrombosis. A kidney biopsy in children with SLE and APS can cause lethal coagulopathic complications, and the risks to such patients should be weighed carefully before the procedure is performed. © 2017 Asian Pacific Society of Nephrology.

Diagnostic challenges of early Lyme disease: Lessons from a community case series

PubMed Central

2009-01-01

Background Lyme disease, the most common vector-borne infection in North America, is increasingly reported. When the characteristic rash, erythema migrans, is not recognized and treated, delayed manifestations of disseminated infection may occur. The accuracy of diagnosis and treatment of early Lyme disease in the community is unknown. Methods A retrospective, consecutive case series of 165 patients presenting for possible early Lyme disease between August 1, 2002 and August 1, 2007 to a community-based Lyme referral practice in Maryland. All patients had acute symptoms of less than or equal to 12 weeks duration. Patients were categorized according to the Centers for Disease Control and Prevention criteria and data were collected on presenting history, physical findings, laboratory serology, prior diagnoses and prior treatments. Results The majority (61%) of patients in this case series were diagnosed with early Lyme disease. Of those diagnosed with early Lyme disease, 13% did not present with erythema migrans; of those not presenting with a rash, 54% had been previously misdiagnosed. Among those with a rash, the diagnosis of erythema migrans was initially missed in 23% of patients whose rash was subsequently confirmed. Of all patients previously misdiagnosed, 41% had received initial antibiotics likely to be ineffective against Lyme disease. Conclusion For community physicians practicing in high-risk geographic areas, the diagnosis of Lyme disease remains a challenge. Failure to recognize erythema migrans or alternatively, viral-like presentations without a rash, can lead to missed or delayed diagnosis of Lyme disease, ineffective antibiotic treatment, and the potential for late manifestations. PMID:19486523

High cost sharing and specialty drug initiation under Medicare Part D: a case study in patients with newly diagnosed chronic myeloid leukemia.

PubMed

Doshi, Jalpa A; Li, Pengxiang; Huo, Hairong; Pettit, Amy R; Kumar, Rishab; Weiss, Brenda M; Huntington, Scott F

2016-03-01

Specialty drugs often offer medical advances but are frequently subject to high cost sharing. This is particularly true with Medicare Part D, where after meeting a deductible, patients without low-income subsidies (non-LIS) typically face 25% to 33% coinsurance (initial coverage phase with "specialty tier" cost sharing), followed by ~50% coinsurance (coverage gap phase), and then 5% coinsurance (catastrophic phase). Yet, no studies have examined the impact of such high cost sharing on specialty drug initiation under Part D. Oral tyrosine kinase inhibitors (TKIs) have revolutionized the treatment of chronic myeloid leukemia (CML), making it an apt case study. A retrospective claims-based analysis utilizing 2011 to 2013 100% Medicare claims. TKI initiation rates and time to initiation were compared between fee-for-service non-LIS Part D patients newly diagnosed with CML and their LIS counterparts who faced nominal cost sharing of ≤ $5. The first 30-day TKI fill "straddled" benefit phases, for a mean out-of-pocket cost of $2600 or more for non-LIS patients. Non-LIS patients were less likely than LIS patients to have a TKI claim within 6 months of diagnosis (45.3% vs 66.9%; P < .001) and those initiating a TKI took twice as long to fill it (mean = 50.9 vs 23.7 days; P < .001). Cox regressions controlling for sociodemographic, clinical, and plan characteristics confirmed descriptive findings (hazard ratio, 0.59; 95% CI, 0.45-0.76). Extensive sensitivity analyses confirmed the robustness of our findings. High cost sharing was associated with reduced and/or delayed initiation of TKIs. We discuss policy strategies to reduce current financial barriers that adversely impact access to critical therapies under Medicare Part D.

Four Cases of Parkinson Disease Diagnosed During the Postpartum Period.

PubMed

Maltête, David; Grangeon, Lou; Le Goff, Floriane; Ozel, Gulden; Fetter, Damien; Ahtoy, Patrick; Temgoua, Olivier; Rouillé, Audrey; Lefaucheur, Romain

2017-07-01

There is little experience with the effect of pregnancy on Parkinson disease because the number of women with Parkinson disease who are of childbearing age is small. We report four cases beginning during the postpartum period and discuss the potential contribution of different factors that may influence the occurrence of Parkinson disease in this time period. Four women aged 29-35 years developed arm tremor, shoulder pain, dizziness, or decreased dexterity of the hand in the first few days or months after childbirth. They were initially diagnosed with postpartum depression or psychogenic parkinsonism. Finally, dopamine transporter imaging confirmed the diagnosis of young-onset Parkinson disease. Early-onset Parkinson disease may present in postpartum women. In women with atypical motor symptoms in addition to depression, this diagnosis should be considered.

Hyperthyrotropinemia in newly diagnosed cystic fibrosis patients with pancreatic insufficiency reversed by enzyme therapy.

PubMed

Giannakopoulos, Aris; Katelaris, Anni; Noni, Maria; Karakonstantakis, Theodore; Kanaka-Gantenbein, Christina; Doudounakis, Stavros

2018-05-01

Patients with cystic fibrosis (CF) commonly present with an elevated TSH concentration, suggesting subclinical hypothyroidism. Its relation to concomitant pancreatic insufficiency and its natural course upon initiation of enzyme replacement have not been adequately studied. Herein, we investigated the thyroid function in newly diagnosed infants with CF and monitored the course of thyroid function response to pancreatic enzyme substitution treatment. Fourteen, newly diagnosed infants with CF and pancreatic insufficiency, were followed every 6-8 weeks for 6 months ensuing onset of pancreatic enzyme substitution therapy. All infants had normal TSH values on neonatal screening. Ten out of 14 (71%) had hyperthyrotropinemia and normal freeT4 values at presentation. No patient received thyroxine. Upon follow-up, after 6 months, TSH values normalized in 90% of infants with CF and hyperthyrotropinemia. Serum selenium levels were negatively correlated with TSH levels. Mild TSH elevation is a frequent finding in newly diagnosed cystic fibrosis patients with pancreatic insufficiency during infancy. TSH elevation resolves in most cases after initiation of enzyme substitution and improvement of nutritional status without any substitutive therapy with thyroxine. What is Known: • Newly diagnosed infants with cystic fibrosis often present with a state of hyperthyrotropinemia suggesting subclinical hypothyroidism. What is New: • Pancreatic enzyme substitution and improvement of nutrition restores normal TSH levels without the need of thyroxine therapy.

Clinical characteristics and outcomes for patients with an initial emergency presentation of malignancy: a 15 month audit of patient level data.

PubMed

Savage, Philip; Sharkey, Rachel; Kua, Teresa; Papanastasopoulos, Panagiotis; McDonald-Burrows, Zoe; Hassan, Shazalia; Probst, Fay; Sanders, Ali; Millington, Hugh

2015-02-01

To investigate the demographics, diagnoses and outcomes for new adult cancer patients with an initial presentation via the A&E or acute oncology teams. Patients with initial emergency presentation of malignancy have been documented to have poorer treatment outcomes and shorter survival. Patient level data on this subject is relatively limited with regard to the demographics, diagnoses and the clinical factors that may underlie late presentations. A 15 month audit of the patients presenting with a new diagnosis of malignancy was performed in 2011-2012. Data on demographics, diagnosis and outcome were assembled and analysed. The clinical data on emergency presentations were compared to reference information on the incidence and median age at presentation for each malignancy within the standard population. During the study a total of 178 new cancer patients presented via the A and E service. The most frequent diagnoses were lung cancer with 21% of cases and CNS and colorectal cancer each with 9% of cases. There was a higher incidence of emergency new presentations of lung cancer, CNS tumours, ovarian, pancreatic and testicular cancer than in the standard population, whilst breast cancer, bladder cancer and prostate cancer patients were under-represented. The median age at diagnosis was 74 and for a number of malignancies including CNS tumours, breast cancer, colorectal cancer and head and neck cancer the emergency cases presented at significantly greater ages than in the standard population. Overall 27% of patients were unfit or unsuitable for a diagnostic biopsy, this group had only a 3 month median survival compared to 14 months for those suitable for biopsy and treatment. Despite a wide range of initiatives, the emergency and late diagnosis of patients with metastatic cancer remains a significant challenge with many patients too advanced and unwell at presentation for active treatment. These patients tend to be older and have malignancies that present with either non-specific symptoms or symptoms requiring acute assessment. Improving the pathways for these patients will be challenging and require additional planning on improving awareness and access for these potentially hard to reach patients. Copyright © 2014 Elsevier Ltd. All rights reserved.

Guillian-Barre syndrome as the initial presentation of systemic lupus erythematosus--case report and review of literature.

PubMed

Nadri, Quaid; Althaf, Mohammed Mahdi

2015-01-01

A number of neurological entities have been associated with systemic lupus erythematosus (SLE). Gullian-Barre syndrome (GBS) as a presenting feature of SLE remains uncommon with just 9 cases reported in the last half-century with the first case reported in 19641-9 (Table 1). We report a young female presenting with GBS in whom SLE and WHO class V lupus nephritis (LN) was subsequently diagnosed. The neurological symptoms partially responded to pulse methylprednisone, intravenous immunoglobulin (IVIG) and plasmapheresis.

[Lupus enteritis as initial manifestation of systemic lupus erythematosus. Report of one case].

PubMed

Barrera O, Manuel; Barrera M, Rodrigo; de la Rivera V, Matías; Vela U, Javier; Mönckeberg F, Gustavo

2017-10-01

Although gastrointestinal symptoms are not rare in Systemic lupus erythematosus, enteritis is an atypical manifestation of the disease. We report a 54 year-old woman who presented acute symptoms of diarrhea, fever and abdominal pain, receiving empiric antibiotic therapy for bacterial enteritis with no response. Computed tomography showed diffuse small intestine inflammation and serositis. Antinuclear antibodies, anti-Ro and anti-La were positive on blood tests. A lupic enteropathy was diagnosed and steroid treatment was initiated, with subsequent clinical improvement.

Tuberculosis active case finding in Cambodia: a pragmatic, cost-effectiveness comparison of three implementation models.

PubMed

James, Richard; Khim, Keovathanak; Boudarene, Lydia; Yoong, Joanne; Phalla, Chea; Saint, Saly; Koeut, Pichenda; Mao, Tan Eang; Coker, Richard; Khan, Mishal Sameer

2017-08-22

Globally, almost 40% of tuberculosis (TB) patients remain undiagnosed, and those that are diagnosed often experience prolonged delays before initiating correct treatment, leading to ongoing transmission. While there is a push for active case finding (ACF) to improve early detection and treatment of TB, there is extremely limited evidence about the relative cost-effectiveness of different ACF implementation models. Cambodia presents a unique opportunity for addressing this gap in evidence as ACF has been implemented using different models, but no comparisons have been conducted. The objective of our study is to contribute to knowledge and methodology on comparing cost-effectiveness of alternative ACF implementation models from the health service perspective, using programmatic data, in order to inform national policy and practice. We retrospectively compared three distinct ACF implementation models - door to door symptom screening in urban slums, checking contacts of TB patients, and door to door symptom screening focusing on rural populations aged above 55 - in terms of the number of new bacteriologically-positive pulmonary TB cases diagnosed and the cost of implementation assuming activities are conducted by the national TB program of Cambodia. We calculated the cost per additional case detected using the alternative ACF models. Our analysis, which is the first of its kind for TB, revealed that the ACF model based on door to door screening in poor urban areas of Phnom Penh was the most cost-effective (249 USD per case detected, 737 cases diagnosed), followed by the model based on testing contacts of TB patients (308 USD per case detected, 807 cases diagnosed), and symptomatic screening of older rural populations (316 USD per case detected, 397 cases diagnosed). Our study provides new evidence on the relative effectiveness and economics of three implementation models for enhanced TB case finding, in line with calls for data from 'routine conditions' to be included in disease control program strategic planning. Such cost-effectiveness comparisons are essential to inform resource allocation decisions of national policy makers in resource constraint settings. We applied a novel, pragmatic methodological approach, which was designed to provide results that are directly relevant to policy makers, costing the interventions from Cambodia's national TB program's perspective and using case finding data from implementation activities, rather than experimental settings.

Chronic inflammatory demyelinating polyneuropathy in children: a report of four patients with variable relapsing courses

PubMed Central

Chang, Soo Jin; Lee, Ji Hyun; Kim, Shin Hye; Lee, Joon Soo; Kim, Heung Dong; Kang, Joon Won; Lee, Young Mock

2015-01-01

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronically progressive or relapsing symmetric sensorimotor disorder presumed to occur because of immunologic antibody-mediated reactions. To understand the clinical courses of CIDP, we report variable CIDP courses in children with respect to initial presentation, responsiveness to medical treatment, and recurrence interval. Four patients who were diagnosed with acute-onset and relapsing CIDP courses at Severance Children's Hospital, Seoul, Korea, were enrolled in this retrospective study. We diagnosed each patient on the basis of the CIDP diagnostic criteria developed in 2010 by the European Federation of Neurological Societies/Peripheral Nerve Society Guidelines. We present the cases of four pediatric patients diagnosed with CIDP to understand the variable clinical course of the disease in children. Our four patients were all between 8 and 12 years of age. Patients 1 and 2 were diagnosed with acute cerebellar ataxia or Guillain-Barré syndrome as initial symptoms. While patients 1 and 4 were given only intravenous dexamethasone (0.3 mg/kg/day) for 5 days at the first episode, Patients 2 and 3 were given a combination of intravenous immunoglobulin (2 g/kg) and dexamethasone (0.3 mg/kg/day). All patients were maintained with oral prednisolone at 30 mg/day, but their clinical courses were variable in both relapse intervals and severity. We experienced variable clinical courses of CIDP in children with respect to initial presentation, responsiveness to medical treatment, and recurrence interval. PMID:26124851

Chronic inflammatory demyelinating polyneuropathy in children: a report of four patients with variable relapsing courses.

PubMed

Chang, Soo Jin; Lee, Ji Hyun; Kim, Shin Hye; Lee, Joon Soo; Kim, Heung Dong; Kang, Joon Won; Lee, Young Mock; Kang, Hoon-Chul

2015-05-01

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronically progressive or relapsing symmetric sensorimotor disorder presumed to occur because of immunologic antibody-mediated reactions. To understand the clinical courses of CIDP, we report variable CIDP courses in children with respect to initial presentation, responsiveness to medical treatment, and recurrence interval. Four patients who were diagnosed with acute-onset and relapsing CIDP courses at Severance Children's Hospital, Seoul, Korea, were enrolled in this retrospective study. We diagnosed each patient on the basis of the CIDP diagnostic criteria developed in 2010 by the European Federation of Neurological Societies/Peripheral Nerve Society Guidelines. We present the cases of four pediatric patients diagnosed with CIDP to understand the variable clinical course of the disease in children. Our four patients were all between 8 and 12 years of age. Patients 1 and 2 were diagnosed with acute cerebellar ataxia or Guillain-Barré syndrome as initial symptoms. While patients 1 and 4 were given only intravenous dexamethasone (0.3 mg/kg/day) for 5 days at the first episode, Patients 2 and 3 were given a combination of intravenous immunoglobulin (2 g/kg) and dexamethasone (0.3 mg/kg/day). All patients were maintained with oral prednisolone at 30 mg/day, but their clinical courses were variable in both relapse intervals and severity. We experienced variable clinical courses of CIDP in children with respect to initial presentation, responsiveness to medical treatment, and recurrence interval.

[Invasive aspergillosis in hematooncological patients: advantages and disadvantages of various diagnostic methods, treatment options and financial costs of therapy].

PubMed

Rácil, Z; Mayer, J; Kocmanová, I; Wagnerová, B; Winterová, J; Folber, F; Lengerová, M; Moulis, M; Zácková, D; Smardová, L; Janíková, A; Navrátil, M; Dvoráková, D; Vorlícek, J

2008-02-01

Invasive aspergillosis (IA) is a leading invasive fungal infection in hematooncological patients. The aim of this study was to analyse the incidence, diagnostic procedures and treatment of IA in hematooncological department in large hospital in the Czech Republic. A retrospective analysis of medical and laboratory records from patients hospitalised in our department with proven/probable IA between January 2000 and December 2006 was performed. 52 cases of IA in 51 patients were identified (17.3% proven IA/82.7% probable IA). Number of IA cases notably increased during study period (1 case of IA in 2000 vs 21 cases of IA in 2006) and majority of them was of nosocomial origin (61.5%). Pulmonary aspergillosis was diagnosed in 46 cases (88.5%). Patients treated for acute leukemia or undergoing allogeneic stem cell transplantation represent the group at the highest risk of IA (in total 52% of cases). Fever and signs of pulmonary involvement were the most common clinical signs of infection (presented in 92.3% and 69.2 cases respectively). Conventional diagnostic methods including autopsy were able to diagnose only 15 cases of IA (28.8%). In all other cases (71.2%) the diagnosis was done by detection of galactomannan (GM) in serum. Introduction of GM monitoring enabled erlier initiation of antifungal treatment by 4 days. Initial therapy of IA led to the treatment response (partial and complete) in 18 (34.6%) of infections--the highest percentage of response has been seen in voriconazole monotherapy group (42%) and when combination of voriconazole and caspofungin has been used (83%). Salvage therapy was initiated due to the failure of initial treatment in 21 (40.3%) of cases. Patients were treated mostly with combination ofvoriconazole and caspofungin and/or monotherapy with voriconazole has been used with treatment response 55% and 50% respectively. Introduction of new antifungal drugs together with increased number of patients with IA led to the marked increase of total costs spent on treatment of IA per year--from 11,5 thousands CZK in 2000 to 6,2 millions CZK in 2006. IA is the most frequent cause of infection-related mortality in patients with haematological malignancies. Routine use of non-culture base methods in diagnosis of IA together with treatment using new, effective antifungals can improve prognosis of patients with this life threatening infection.

Mastoiditis and facial paralysis as initial manifestations of temporal bone systemic diseases - the significance of the histopathological examination.

PubMed

Maniu, Alma Aurelia; Harabagiu, Oana; Damian, Laura Otilia; Ştefănescu, Eugen HoraŢiu; FănuŢă, Bogdan Marius; Cătană, Andreea; Mogoantă, Carmen Aurelia

2016-01-01

Several systemic diseases, including granulomatous and infectious processes, tumors, bone disorders, collagen-vascular and other autoimmune diseases may involve the middle ear and temporal bone. These diseases are difficult to diagnose when symptoms mimic acute otomastoiditis. The present report describes our experience with three such cases initially misdiagnosed. Their predominating symptoms were otological with mastoiditis, hearing loss, and subsequently facial nerve palsy. The cases were considered an emergency and the patients underwent tympanomastoidectomy, under the suspicion of otitis media with cholesteatoma, in order to remove a possible abscess and to decompress the facial nerve. The common features were the presence of severe granulation tissue filling the mastoid cavity and middle ear during surgery, without cholesteatoma. The definitive diagnoses was made by means of biopsy of the granulation tissue from the middle ear, revealing granulomatosis with polyangiitis (formerly known as Wegener's granulomatosis) in one case, middle ear tuberculosis and diffuse large B-cell lymphoma respectively. After specific associated therapy facial nerve functions improved, and atypical inflammatory states of the ear resolved. As a group, systemic diseases of the middle ear and temporal bone are uncommon, but aggressive lesions. After analyzing these cases and reviewing the literature, we would like to stress upon the importance of microscopic examination of the affected tissue, required for an accurate diagnosis and effective treatment.

Altered mental status in a U.S. Army Special Forces Soldier.

PubMed

Brandon, Jonathan; Hill, Guyon J

2011-01-01

Special Operations medical provider must be familiar with the differential diagnosis for a patient with altered mental status since it includes multiple life-threatening illnesses. Potential diagnoses include meningitis, encephalitis, malaria and many others. While preparing to evacuate to definitive care from an austere location, they must also be prepared to initiate empiric therapy that is specific to the patient and the area of operations. We present a case of a U.S. Army Special Forces Soldier that developed limbic encephalitis of presumed Herpes Simplex Virus (HSV) origin. We will review the key differential diagnoses for this presentation with a focus on infectious etiologies. We will also summarize current diagnostic and therapeutic strategies. Our recommendation is to initiate oral acyclovir when IV acyclovir is not available and this diagnosis cannot be excluded. 2011.

Borrelia miyamotoi infection presenting as human granulocytic anaplasmosis: a case report.

PubMed

Chowdri, Hanumara Ram; Gugliotta, Joseph L; Berardi, Victor P; Goethert, Heidi K; Molloy, Philip J; Sterling, Sherri L; Telford, Sam R

2013-07-02

The diverse tickborne infections of the northeastern United States can present as undifferentiated flu-like illnesses. In areas endemic for Lyme and other tickborne diseases, patients presenting with acute febrile illness with myalgia, headache, neutropenia, thrombocytopenia, and elevated hepatic aminotransferase levels are presumptively diagnosed as having human granulocytic anaplasmosis (HGA). To assign a cause for illness experienced by 2 case patients who were initially diagnosed with HGA but did not rapidly defervesce with doxycycline treatment and had no laboratory evidence of Anaplasma phagocytophilum infection. Case report. 2 primary care medical centers in Massachusetts and New Jersey. 2 case patients acutely presenting with fever. Identification of the causative agent by polymerase chain reaction and DNA sequencing. Molecular diagnostic assays detected Borrelia miyamotoi in the peripheral blood of both patients. There was no evidence of infection with other tickborne pathogens commonly diagnosed in the referral areas. One of the case patients may have had concurrent Lyme disease. The presence of B. miyamotoi DNA in the peripheral blood and the patients' eventual therapeutic response to doxycycline are consistent with the hypothesis that their illness was due to this newly recognized spirochete. Samples from tick-exposed patients acutely presenting with signs of HGA but who have a delayed response to doxycycline therapy or negative confirmatory test results for HGA should be analyzed carefully for evidence of B. miyamotoi infection.

Ewings Sarcoma: A Case of Respiratory Distress and Opacification That Was not Pneumonia.

PubMed

Wells, Jordee M; Spencer, Sandra P

2018-05-01

The Ewing sarcoma family of tumors typically appears in the second decade of life with regional pain and swelling of a long bone. The following case presents a pediatric patient, aged 4 years, given a diagnosis of Ewing sarcoma of the rib with the initial presentation of respiratory distress, hypoxia, and pleural effusion. Respiratory distress accounts for a large majority of emergency department visits annually, so it is the distinct responsibility of the emergency department physician to avoid premature closure in attributing the most common diagnoses to account for the presenting symptoms. In this case, the careful study of the initial radiographic findings led to further identification and characterization of the mass through thoracic computed tomography to suggest Ewing sarcoma, despite the patient's unlikely demographics and presentation.

Squamous cell carcinoma from oral lichen planus: a case report of a lesion with 28 years of evolution.

PubMed

Silveira, Wanessa da Silva; Bottezini, Ezequiel Gregolin; Linden, Maria Salete; Rinaldi, Isadora; Paranhos, Luiz Renato; de Carli, João Paulo; Trentin, Micheline; Dos Santos, Pâmela Letícia

2017-12-01

Lichen planus (LP) is a relatively common mucocutaneous disease with autoimmune etiology. Considering its malignancy potential, it is important to define the correct diagnosis, treatment, and clinical follow-up for patients with LP so that the disease is not diagnosed late, thus hindering the chances of curing the disease. This study aims to describe a clinical case of oral squamous cell carcinoma, potentially originated from LP. The patient is undergoing clinical and histopathological follow-up. A 64-year-old Caucasian male patient presented with a proliferative verrucous lesion on the tongue and sought treatment at the School of Dentistry, University of Passo Fundo (UPF), Passo Fundo, Brazil. He claimed the lesion had been present since 1988, and had been initially diagnoses as "oral lichen planus." The physical exam presented three diagnostic hypotheses: plaque-like oral LP, verrucous carcinoma, and squamous cell carcinoma. After incisional biopsy and histopathological analysis, squamous cell carcinoma was diagnosed, probably originating from oral LP. The case study shows that malignancy from oral LP is possible, which justifies periodic clinical and histopathological follow-up, as well as the elimination of risk factors for carcinoma in patients with oral LP.

[A Case of Subcortical Intracerebral Hemorrhage Caused by Underlying Oligodendroglioma Diagnosed through Long-Term Follow-Up].

PubMed

Kidoguchi, Masamune; Isozaki, Makoto; Hirose, Satoshi; Kitai, Ryuhei; Kikuta, Ken-Ichiro

2017-03-01

We report on a case of an oligodendroglioma that caused intracerebral hemorrhage, which was diagnosed by long-term follow-up. An 82-year-old man with underlying hypertrophic cardiomyopathy presented with weakness in the right upper extremity. Computed tomography and magnetic resonance imaging(MRI)showed intracerebral hemorrhage and focal brain edema. Since there was a discrepancy between hematoma and focal brain edema, we first diagnosed cardiogenic cerebral embolism. Six months later, MRI results showed an improvement of the brain edema; however, the lesion developed after a year. We suspected that this lesion included a brain tumor and performed an open surgical biopsy. Pathological examination revealed that the tumor was an oligodendroglioma(World Health Organization grade 2). Because brain tumors that are complicated with intratumoral bleeding are often highly malignant and the lesions gradually increase in size, it is relatively easy to make a precise diagnosis. However, in low-grade gliomas, the intracerebral hemorrhage and brain edema may occasionally improve in the short term. We show that a case with a discrepancy between hematoma and brain edema should be followed up for at least more than a year, even when initial MRI does not reveal a brain tumor .

Central nervous system infection with Staphylococcus intermedius secondary to retrobulbar abscessation in a dog.

PubMed

Oliver, James A C; Llabrés-Diaz, Francisco J; Gould, David J; Powell, Roger M

2009-01-01

In this report, we describe a case of retrobulbar abscessation in a dog that was initially diagnosed as masticatory myositis and treated with immunosuppressive doses of corticosteroids. Secondary bacterial infection of the central nervous system (CNS) occurred and was definitively diagnosed by the analysis and culture of the cerebrospinal fluid. This is the first time that retrobulbar infection has been definitively shown to result in secondary bacterial infection of the CNS in the dog and highlights the importance of ruling out infectious causes of retrobulbar disease before assuming and treating for an immune-mediated etiology.

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

A thrombus in transit through a patent foramen ovale.

PubMed

Ibebuogu, Uzoma N; Khouzam, Rami N; Sharma, Gyanendra; Thornton, John W; Robati, Roshanak; Silverman, David

2014-10-01

Patent foramen ovale (PFO) is a congenital heart defect that may first be diagnosed in adulthood and has a prevalence of 25% to 30%. Although many patients with PFO are asymptomatic and do not require treatment, paradoxical embolism can cause stroke or myocardial infarction. The authors report an unusual case of PFO with a transversing thrombus in an 80-year-old man. The patient's initial presentation appeared clinically as acute coronary syndrome, but he was subsequently diagnosed with a massive thrombus in transit via a PFO and pulmonary embolus leading to right-sided heart failure.

Narcolepsy with and without cataplexy, idiopathic hypersomnia with and without long sleep time: a cluster analysis.

PubMed

Šonka, Karel; Šusta, Marek; Billiard, Michel

2015-02-01

The successive editions of the International Classification of Sleep Disorders (ICSD) reflect the evolution of the concepts of various sleep disorders. This is particularly the case for central disorders of hypersomnolence, with continuous changes in terminology and divisions of narcolepsy, idiopathic hypersomnia, and recurrent hypersomnia. According to the ICSD 2nd Edition (ICSD-2), narcolepsy with cataplexy (NwithC), narcolepsy without cataplexy (Nw/oC), idiopathic hypersomnia with long sleep time (IHwithLST), and idiopathic hypersomnia without long sleep time (IHw/oLST) are four, well-defined hypersomnias of central origin. However, in the absence of biological markers, doubts have been raised as to the relevance of a division of idiopathic hypersomnia into two forms, and it is not yet clear whether Nw/oC and IHw/oLST are two distinct entities. With this in mind, it was decided to empirically review the ICSD-2 classification by using a hierarchical cluster analysis to see whether this division has some relevance, even though the terms "with long sleep time" and "without long sleep time" are inappropriate. The cluster analysis differentiated three main clusters: Cluster 1, "combined monosymptomatic hypersomnia/narcolepsy type 2" (people initially diagnosed with IHw/oLST and Nw/oC); Cluster 2 "polysymptomatic hypersomnia" (people initially diagnosed with IHwithLST); and Cluster 3, narcolepsy type 1 (people initially diagnosed with NwithC). Cluster analysis confirmed that narcolepsy type 1 and polysymptomatic hypersomnia are independent sleep disorders. People who were initially diagnosed with Nw/oC and IHw/oLST formed a single cluster, referred to as "combined monosymptomatic hypersomnia/narcolepsy type 2." Copyright © 2014 Elsevier B.V. All rights reserved.

Osimertinib reactivated immune-related colitis after treatment with anti-PD1 antibody for non-small cell lung cancer.

PubMed

Takenaka, Tomoyoshi; Yamazaki, Koji; Miura, Naoko; Harada, Naohiko; Takeo, Sadanori

2017-12-01

We reported a case of relapsing immune-related colitis (initially caused by nivolumab) following osimertinib therapy for lung adenocarcinoma. A 45-year-old female who had never smoked was diagnosed with adenocarcinoma of the lung and underwent surgical resection. Four years after surgical resection, she was diagnosed with recurrent disease and was eventually treated with nivolumab as third-line therapy. One month after the completion of nivolumab therapy, the patient reported abdominal pain and frequent diarrhea. We diagnosed immune-related colitis and started oral prednisolone. However, the steroid therapy was ineffective, so the patient was administered infliximab and an increased dose of prednisolone. Her symptoms subsequently resolved, and her mucosal lesions improved. Six months after the last administration of nivolumab, osimertinib was initiated as fourth-line therapy, but 3 days later, the patient developed blood in the stool and frequent diarrhea. Osimertinib treatment was discontinued, given the possibility that it had reactivated the patient's immune-related colitis. We subsequently re-administered oral prednisolone (2 mg/kg/day), and the colitis resolved within a few weeks.

Calvarial Plasmacytoma Mimicking Meningioma as the Initial Presentation of Multiple Myeloma

PubMed Central

Pisapia, David; Ramakrishna, Rohan

2017-01-01

Plasmacytoma of the calvarium is a well-described feature of multiple myeloma and in some cases has been reported as a solitary lesion. However, when associated with multiple myeloma these are typically identified after the initial diagnosis is made. This case is unusual in that the diagnosis of plasmacytoma was first suspected in a patient thought to have a meningioma on the day of surgery, when a magnetic resonance imaging (MRI) demonstrated spontaneous involution of the mass. Recognition of evolving changes in a calvarial or dural-based lesion should prompt the practitioner to consider alternative diagnoses other than meningioma prior to proceeding with surgical resection. PMID:28465873

Infantile masturbation and paroxysmal disorders.

PubMed

Omran, Mohammadreza Salehi; Ghofrani, Mohammad; Juibary, Ali Ghabeli

2008-02-01

A recurrent paroxysmal presentation in children leads to different diagnoses and among them are neurologic and cardiac etiologies. Infantile masturbation is not a well known entity and cannot be differentiated easily from other disorders. Aim of this study is to elucidate and differentiate this condition from epileptic seizures. We report 3 cases of 10 to 30 mth old girls of infantile masturbation that their symptoms initiated at 2, 3 and 8 mth of age. These present with contraction and extension of lower extremities, scissoring of legs, perspiration, changing face color. In 2 cases body rocking and legs rubbing initiated then there after. Masturbation is one of the paroxysmal non-epileptic conditions of early infancy and is in differential diagnosis of epileptic seizures.

Any value in a specialist review of liver biopsies? Conclusions of a 4-year review.

PubMed

Paterson, Anna L; Allison, Michael E D; Brais, Rebecca; Davies, Susan E

2016-08-01

Liver pathology is a challenging subspeciality, with histopathologists frequently seeking specialist opinions. This study aims to determine the impact of specialist reviews on the final diagnosis and patient management. Agreement with the initial reporting centre in the histopathological diagnosis of 1265 liver biopsies was determined. The nature of differences was explored in more depth for 103 discrepant cases. Differences in the histopathological interpretation were present in 749 of 1265 (59%) biopsies, of which 505 of 749 (67%) were predicted at the time of reporting to impact upon patient management. Agreement was good in cases with chronic viral hepatitis, fatty liver disease, malignancy and minimal pathological changes, while diagnostic differences occurred in more than 70% with biliary disease, autoimmune hepatitis or vascular/architectural changes. A clinical review of a subset of reports with histopathological differences predicted changes in patient management in 63 of 103 (61%). Clinically significant differences in liver biopsy interpretation between local pathologists and subspecialists are common. Diagnoses with frequent discrepancies, such as biliary disease, may benefit from a specialist review as standard when diagnosed initially, while cases requiring specialist advice from disease subgroups where discrepancies are less common, such as chronic viral hepatitis, could be selected during the clinicopathological conference process. © 2016 John Wiley & Sons Ltd.

Comparing disciplines: outcomes of non melanoma cutaneous malignant lesions in oral and maxillofacial surgery and dermatology.

PubMed

Thavarajah, M; Szamocki, S; Komath, D; Cascarini, L; Heliotis, M

2015-01-01

300 cases of non-melanoma cutaneous lesion procedures carried out by the Oral and Maxillofacial Surgery and Dermatology departments in a North West London hospital over a 6 month period between September 2011 and February 2012 were included in a retrospective case control study. The results from each speciality were compared. The mean age of the OMFS group was 75.8 years compared to 69.9 years in the dermatology group. There was no statistically significant difference in gender between the 2 groups. The OMFS group treated a higher proportion of atypical (17%) and malignant (64.9%) cases compared to the dermatology group (11.3% and 50.5% respectively). This could also account for the fact that the OMFS group carried out a higher number of full excisions compared to dermatology. Both groups had a similar number of false positives (a benign lesion initially diagnosed as malignant) and a similar proportion of false negatives (a malignant lesion initially diagnosed as benign). Overall, the results show that both specialities had similar outcomes when managing non-melanoma cutaneous lesions. Both groups adhere to the guidelines set out by the British Association of Dermatologists and the National Institute of Clinical Excellence when managing such lesions. Crown Copyright © 2014. Published by Elsevier Ltd. All rights reserved.

A new structured interview for children with autism spectrum disorder based on the DSM-IV.

PubMed

Hansakunachai, Tippawan; Roongpraiwan, Rawiwan; Sombuntham, Tasnawat; Limprasert, Pornprot; Ruangdaraganon, Nichara

2014-08-01

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder in children. The clinical spectrum of ASD includes autism, childhood disintegrative disorder Asperger syndrome and pervasive developmental disorder not otherwise specified (PDD-NOS). Although the DSM-IVcriteria are well acceptedforASD diagnosis, there are some known limitations for clinicians. The most important issue is lack'ofspecific age-appropriate items in each domain. Thus, the DSM-IVneeds some modifications in order to be appropriate for clinical use. To develop a structured interview for children based on the DSM-IVdiagnostic criteria ofautism and PDD-NOS. MATERIAL ANDMETHOD: From June 2006 to December 2008, 140 Thai children, 121 boys and 19 girls, already diagnosed with ASD, were recruited through the child development clinics of Ramathibodi and Thammasat University Hospitals in Thailand. A 26-item structured interview was developed with scoring according to the DSM-IVdiagnostic criteria for autism andPDD- NOS. To test the accuracy of the structured interview and its reliability, 32 children with ASD were selected and interviewed by four clinicians using the new instrument. One clinician interviewed the parents or caregivers, while three others independently took notes and observed the play behavior of the children. All items from the structured interview as scored by each clinician were compared using inter-rater agreement statistics (Kappa). All of the original 140 patients were then clinically diagnosed again using the structured interview and the results were compared with the initial diagnoses. Ofthe 140patients originally diagnosed with ASD, 110 and 30patients were finally diagnosed with the new interview as having autism and PDD-NOS, respectively. The initial diagnoses from 15 cases (10.7%) were changed according to the structured interview Inter-rater reliability among the four clinicians showed a good level ofagreement (Kappa = 0.897) with statistical significance (p<0.001). The authors only compared the items in the structured interview between the autism and PDD-NOSgroups from 105 cases aged 2-5 years (79 cases with autism and 26 cases with PDD-NOS) because there were only 4 cases with PDD-NOS in the other age groups. Highly significant differences (p<0.001) in clinical items between patients with autism and patients with PDD-NOS from the final diagnoses were noted in 6 of 8 items in the category of restricted, repetitive and stereotyped patterns ofbehavior, interests and activities, which were more common in the autism group than the PDD-NOS group. In addition, the autism group had higher frequencies of using finger-pointing to indicate interest rather than verbalization, and idiosyncratic language, than the PDD-NOS group. The newly developed structured interview for Thai children with ASD had a high level ofinterrater reliability between four clinicians. However, most children tested using this structured interview were 2-5years ofage, and the study did not include non-autistic groups. The application ofthis structured interview needs further study with a wider variety ofcases, such as ASD cases from different age groups, children with delayed development and normal children.

Prevalence and incidence of adults consulting for shoulder conditions in UK primary care; patterns of diagnosis and referral.

PubMed

Linsell, L; Dawson, J; Zondervan, K; Rose, P; Randall, T; Fitzpatrick, R; Carr, A

2006-02-01

To estimate the national prevalence and incidence of adults consulting for a shoulder condition and to investigate patterns of diagnosis, treatment, consultation and referral 3 yr after initial presentation. Prevalence and incidence rates were estimated for 658469 patients aged 18 and over in the year 2000 using a primary care database, the IMS Disease Analyzer-Mediplus UK. A cohort of 9215 incident cases was followed-up prospectively for 3 yr beyond the initial consultation. The annual prevalence and incidence of people consulting for a shoulder condition was 2.36% [95% confidence interval (CI) 2.32-2.40%] and 1.47% (95% CI 1.44-1.50%), respectively. Prevalence increased linearly with age whilst incidence peaked at around 50 yr then remained static at around 2%. Around half of the incident cases consulted once only, while 13.6% were still consulting with a shoulder problem during the third year of follow-up. During the 3 yr following initial presentation, 22.4% of patients were referred to secondary care, 30.8% were prescribed non-steroidal anti-inflammatory drugs and 10.6% were given an injection by their general practitioner (GP). GPs tended to use a limited number of generalized codes when recording a diagnosis; just five of 426 possible Read codes relating to shoulder conditions accounted for 74.6% of the diagnoses of new cases recorded by GPs. The prevalence of people consulting for shoulder problems in primary care is substantially lower than community-based estimates of shoulder pain. Most referrals occur within 3 months of initial presentation, but only a minority of patients are referred to orthopaedic specialists or rheumatologists. GPs may lack confidence in applying precise diagnoses to shoulder conditions.

Reliability of Causality Assessment for Drug, Herbal and Dietary Supplement Hepatoxicity in the Drug-Induced Liver Injury Network (DILIN)

PubMed Central

Hayashi, Paul H.; Barnhart, Huiman X.; Fontana, Robert J.; Chalasani, Naga; Davern, Timothy J.; Talwalkar, Jayant A.; Reddy, K. Rajender; Stolz, Andrew A.; Hoofnagle, Jay H.; Rockey, Don C.

2014-01-01

Background Due to the lack of objective tests to diagnose drug induced liver injury (DILI), causality assessment is a matter of debate. Expert opinion is often used in research and industry but its test-retest reliability is unknown. Aims To determine the test-retest reliability of the expert opinion process used by the Drug-Induced Liver Injury Network (DILIN) Methods Three DILIN hepatologists adjudicate suspected hepatotoxicity cases to 1 of 5 categories representing levels of likelihood of DILI. Adjudication is based on retrospective assessment of gathered case data that includes prospective follow-up information. One hundred randomly selected DILIN cases were re-assessed using the same processes for initial assessment but by 3 different reviewers in 92% of cases. Results The median time between assessments was 938 days (range: 140–2352). Thirty-one cases involved >1 agent. Weighted kappa statistics for overall case and individual agent category agreement were 0.60 (95% CI: 0.50–0.71) and 0.60 (0.52–0.68), respectively. Overall case adjudications were within one category of each other 93% of the time, while 5% differed by 2 categories and 2% differed by 3 categories. Fourteen-percent crossed the 50% threshold of likelihood due to competing diagnoses or atypical timing between drug exposure and injury. Conclusions The DILIN expert opinion causality assessment method has moderate inter-observer reliability but very good agreement within 1 category. A small but important proportion of cases could not be reliably diagnosed as ≥ 50% likely to be DILI. PMID:24661785

Utility of additional tissue sections in dermatopathology: diagnostic, clinical and financial implications.

PubMed

Stuart, Lauren N; Rodriguez, Adrianna S; Gardner, Jerad M; Foster, Toby E; MacKelfresh, Jamie; Parker, Douglas C; Chen, Suephy C; Stoff, Benjamin K

2014-02-01

As histopathologic assessment is subject to sampling error, some institutions 'preorder' deeper sections on some or all cases (hereafter referred to as prospective deeper sections), while others order additional sections only when needed (hereafter referred to as retrospective deeper sections). We investigated how often additional sections changed a diagnosis and/or clinical management. Given the recent decrease in reimbursement for CPT-code 88305, we also considered the financial implications of ordering additional sections. Cases (n = 204) were assigned a preliminary diagnosis, based on review of the initial slide, and a final diagnosis, after reviewing additional sections. Cases with discordant diagnoses were assessed by two dermatologists, who indicated whether the change in diagnosis altered clinical management. Expenses were estimated for three scenarios: (a) no additional sections, (b) prospective deeper sections and (c) retrospective deeper sections. Diagnoses were modified in 9% of cases, which changed clinical management in 56% of these cases. Lesions obtained by punch-biopsy and inflammatory lesions were disproportionately overrepresented amongst cases with changed diagnoses (p < 0.001, p = 0.12, respectively). The cost of prospective deeper sections and retrospective deeper sections represented a 56% and 115% increase over base costs, respectively. Labor costs, particularly the cost of dermatopathologist evaluation, were the most significant cost-drivers. While additional sections improve diagnostic accuracy, they delay turn-around-time and increase expenditures. In our practice, prospective deeper sections are cost effective, however, this may vary by institution. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Variant translocation partners of the anaplastic lymphoma kinase (ALK) gene in two cases of anaplastic large cell lymphoma, identified by inverse cDNA polymerase chain reaction.

PubMed

Takeoka, Kayo; Okumura, Atsuko; Honjo, Gen; Ohno, Hitoshi

2014-01-01

In anaplastic large cell lymphoma (ALCL), the anaplastic lymphoma kinase (ALK) gene is rearranged with diverse partners due to variant translocations/inversions. Case 1 was a 39-year-old man who developed multiple tumors in the mediastinum, psoas muscle, lung, and lymph nodes. A biopsy specimen of the inguinal node was effaced by large tumor cells expressing CD30, epithelial membrane antigen, and cytoplasmic ALK, which led to a diagnosis of ALK(+) ALCL. Case 2 was a 51-year-old man who was initially diagnosed with undifferentiated carcinoma. He developed multiple skin tumors eight years after his initial presentation, and was finally diagnosed with ALK(+) ALCL. He died of therapy-related acute myeloid leukemia. G-banding and fluorescence in situ hybridization using an ALK break-apart probe revealed the rearrangement of ALK and suggested variant translocation in both cases. We applied an inverse cDNA polymerase chain reaction (PCR) strategy to identify the partner of ALK. Nucleotide sequencing of the PCR products and a database search revealed that the sequences of ATIC in case 1 and TRAF1 in case 2 appeared to follow those of ALK. We subsequently confirmed ATIC-ALK and TRAF1-ALK fusions by reverse transcriptase PCR and nucleotide sequencing. We successfully determined the partner gene of ALK in two cases of ALK(+) ALCL. ATIC is the second most common partner of variant ALK rearrangements, while the TRAF1-ALK fusion gene was first reported in 2013, and this is the second reported case of ALK(+) ALCL carrying TRAF1-ALK.

Recovery of Mycobacterium lentiflavum from bronchial lavage during follow-up of an extrapulmonary tuberculosis patient.

PubMed

Vise, Esther; Mawlong, Michael; Garg, Akshay; Sen, Arnab; Shakuntala, Ingudam; Das, Samir

2017-01-01

Initially diagnosed with cervical lymphadenitis, a 15-year-old boy was started with category I anti-tuberculosis (TB) drugs. Follow-up investigations led to isolation and identification of Mycobacterium lentiflavum by multiple diagnostic and identification approaches. Observation of this rare pathogen from human origin urges cautious diagnosis while attending TB cases.

[Transhepatic percutaneous embolisation of a post-traumatic pseudoaneurysm of hepatic artery].

PubMed

Marcheix, B; Dambrin, C; Cron, C; Sledzianowski, J F; Aguirre, J; Suc, B; Cerene, A; Rousseau, H

2004-12-01

Pseudoaneurysm of the hepatic artery is a rare complication of blunt abdominal trauma. We report a case of post-traumatic pseudoaneurysm diagnosed several months after the initial traumatism in a 18-year-old man who presented recurrent abdominal pain. This pseudoaneurysm was successfully treated by association of both classical endovascular treatment and transhepatic percutaneous embolization.

Traumatic Axillary Artery Dissection with Radial Artery Embolism

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

Chung, Hwan-Hoon; Cha, Sang Hoon, E-mail: shcha123@naver.com; Cho, Sung Bum

This report describes a case of pathologically proven traumatic arterial dissection, presenting as complete occlusion of the axillary artery with radial artery embolism. Occlusion of the axillary artery by traumatic dissection mimicked transection and radial artery embolism mimicked congenital absence of the radial artery on the initial angiogram, but these were correctly diagnosed with the following sonogram.

Noma in an HIV infected patient in Guinea-Bissau: a case report.

PubMed

Madsen, Tina; Medina, Candida; Jespersen, Sanne; Wejse, Christian; Hønge, Bo Langhoff

2017-12-01

Noma is a multifactorial and multibacterial opportunistic infection that initially causes necrotic gingivitis but rapidly spreads to the nearby orofacial tissue resulting in sloughing and severe deformation of the facial structures. The majority of cases are seen in young children under the age of 6 years. Noma is strongly associated with poverty, malnutrition and immunosuppression, and is often preceded by severe systemic infections such as measles and malaria. Only few cases of noma infection in adults have been described. We present here a case report with a 32-year-old Guinean woman who was diagnosed with noma infection and on that occasion discovered that she was HIV-1 seropositive. After treatment with amoxicillin/clavulanic acid and metronidazole for her noma infection the woman was transferred to the national hospital where antiretroviral treatment was initiated. Noma is an opportunistic infection and immunodeficiencies such as HIV should always be suspected when presenting in an adult patient.

PET/CT versus bone marrow biopsy in the initial evaluation of bone marrow infiltration in various pediatric malignancies.

PubMed

Zapata, Claudia P; Cuglievan, Branko; Zapata, Catalina M; Olavarrieta, Raquel; Raskin, Scott; Desai, Kavita; De Angulo, Guillermo

2018-02-01

Accurate staging is essential in the prognosis and management of pediatric malignancies. Current protocols require screening for marrow infiltration with bone marrow biopsy (BMB) as the gold standard. Positron emission tomography-computed tomography (PET-CT) is commonly used to complete the staging process and can also be used to evaluate marrow infiltration. To compare PET-CT and BMB in the initial evaluation of bone marrow infiltration in pediatric cancers. We retrospectively reviewed new cases of EWS, rhabdomyosarcoma, neuroblastoma, and lymphoma diagnosed between January 2009 and October 2014. Each case had undergone both PET-CT and BMB within 4 weeks without treatment in the interval between screening modalities. We reviewed 69 cases. Bone marrow infiltration was demonstrated in 34 cases by PET-CT and in 18 cases by BMB. The sensitivity and negative predictive value of PET-CT were both 100%. Interestingly, the cases in which infiltration was not detected on BMB had an abnormal marrow signal on PET-CT focal or distant to iliac crest. PET-CT has a high sensitivity when assessing marrow infiltration in pediatric malignancies. Advances in radiologic modalities may obviate the use of invasive, painful, and costly procedures like BMB. Furthermore, biopsy results are limited by insufficient tissue or the degree of marrow infiltration (diffuse vs. focal disease). PET-CT can improve the precision of biopsy when used as a guiding tool. This study proposes the use of PET-CT as first-line screening for bone marrow infiltration to improve the accuracy of staging in new diagnoses. © 2017 Wiley Periodicals, Inc.

Think Again: First Do No Harm: A Case of Munchausen Syndrome by Proxy.

PubMed

Yalndağ-Öztürk, Nilüfer; Erkek, Nilgün; Şirinoğlu, Melis Bayram

2015-10-01

Apparent life-threatening events caused by Munchausen syndrome by proxy (MSP) are rare but difficult to resolve medically. Failure to properly diagnose MSP can lead to further abuse by the caregiver and increase the risk of complications due to long hospital stays and invasive tests. In this paper, we describe our experiences with a baby who ended up being diagnosed with MSP, including our initial failure to find a pathology, delay of MSP diagnosis, our growing suspicion of MSP despite technical setbacks, our actions after we confirmed MSP as the cause of his hospitalizations. We also describe the difficulties of diagnosing MSP compared to more traditional problems and explain a series of precautions and guidelines to help detect it in a timely manner.

Emergency therapeutic leukapheresis in a case of acute myeloid leukemia M5

PubMed Central

Ranganathan, Sudha; Sesikeran, Shyamala; Gupta, Vineet; Vanajakshi

2008-01-01

Cell separators in India are routinely used for plateletpheresis, peripheral blood stem cell collections and therapeutic plasma exchange. Therapeutic leukapheresis, particularly as an emergency procedure, has been uncommonly performed and reported. Here, a case of a 53-year-old male, diagnosed with acute myeloid leukemia subtype M5 (AML M5) with hyperleukocytosis, who underwent emergency leukaphereis, is reported. After two procedures, there was a decrease of WBC count by 85%, which enabled cytotoxic therapy to be initiated. PMID:20041073

An initial trial of a prototype telepathology system featuring static imaging with discrete control of the remote microscope.

PubMed

Winokur, T S; McClellan, S; Siegal, G P; Reddy, V; Listinsky, C M; Conner, D; Goldman, J; Grimes, G; Vaughn, G; McDonald, J M

1998-07-01

Routine diagnosis of pathology images transmitted over telecommunications lines remains an elusive goal. Part of the resistance stems from the difficulty of enabling image selection by the remote pathologist. To address this problem, a telepathology microscope system (TelePath, TeleMedicine Solutions, Birmingham, Ala) that has features associated with static and dynamic imaging systems was constructed. Features of the system include near real time image transmission, provision of a tiled overview image, free choice of any fields at any desired optical magnification, and automated tracking of the pathologist's image selection. All commands and images are discrete, avoiding many inherent problems of full motion video and continuous remote control. A set of 64 slides was reviewed by 3 pathologists in a simulated frozen section environment. Each pathologist provided diagnoses for all 64 slides, as well as qualitative information about the system. Thirty-one of 192 diagnoses disagreed with the reference diagnosis that had been reached before the trial began. Qf the 31, 13 were deferrals and 12 were diagnoses of cases that had a deferral as the reference diagnosis. In 6 cases, the diagnosis disagreed with the reference diagnosis yielding an overall accuracy of 96.9%. Confidence levels in the diagnoses were high. This trial suggests that this system provides high-quality anatomic pathology services, including intraoperative diagnoses, over telecommunications lines.

PHACE syndrome misdiagnosed as a port-wine stain

PubMed Central

Thomson, Jason; Greig, Aina; Lloyd, Claire; Morrison, Danny; Flohr, Carsten

2015-01-01

We present the case of a boy born with a large macular, segmental vascular anomaly over the left face, initially diagnosed as a capillary malformation (port-wine stain) by the postnatal paediatric team. The vascular anomaly in the face then grew rapidly during the first few weeks of life and started to occlude the left eye, causing parental concerns about the infant's vision. A dermatological opinion established that the lesion was a segmental infantile haemangioma (IH). This, in combination with the posterior fossa malformation previously detected on antenatal scanning and confirmed by an MRI postnatally, satisfied the criteria for Posterior fossa abnormalities, Haemangiomas, Arterial abnormalities, Cardiac abnormalities and Eye abnormalities (PHACE) syndrome: a rare cutaneous neurovascular syndrome. This case highlights the diagnostic challenge posed by early phenotypes of haemangiomas as well as the importance of correctly diagnosing PHACE syndrome. PMID:26177999

Pericarditis as presenting manifestation of acute nonlymphocytic leukemia in a young child.

PubMed

Chu, J Y; Demello, D; O'Connor, D M; Chen, S C; Gale, G B

1983-07-15

A case of acute nonlymphocytic leukemia presenting as pericarditis is reported in a five-year-old boy. Initially, a clinical diagnosis of viral pericarditis was made, because the child did not demonstrate hematologic or clinical manifestations of leukemia. Acute undifferentiated or lymphocytic leukemia. Acute undifferentiated or lymphocytic leukemia was diagnosed one week after admission when his peripheral blood count became abnormal. The patient did not respond to vincristine and prednisone. When cytochemical evaluation indicated acute myelomonocytic leukemia, employment of cytosine arabinoside and 6-thioguanine was instituted and the child began to improve. Currently, he is still in good remission and has no evidence of recurrence of pericarditis, 1 1/2 years after his initial presentation. In reviewing the literature, we found 17 patients who had leukemic pericardial effusion with cardiac tamponade. There are three reported cases of young children with pericardial effusion as the initial manifestation of acute lymphocytic leukemia, but no reported cases due to nonlymphocytic leukemia, as in this child.

Clinico-Histopathological Spectrum of Infectious Granulomatous Dermatoses in Western India- A Representative Study from Mumbai.

PubMed

Grover, Sumit; Agale, Shubhangi Vinayak; D'Costa, Grace F; Valand, Arvind G; Gupta, Vikram Kumar

2016-04-01

Infectious Granulomatous Dermatoses (IGDS) have various aetiological factors with a considerable overlap in the histopathological and clinical features, thus posing a diagnostic dilemma for dermatologists and pathologists. We aimed at determining the histopathological profile of IGDS correlating it with clinical features with an attempt to find the aetiology. In a cross-sectional study conducted in a tertiary referral center of Mumbai over two years, out of 1872 skin biopsies received, 239 histopathologically diagnosed cases of IGDS were studied for histopathological features of granuloma. A clinico-histopathological correlation was attempted. Chi-square test was used for comparison of proportions of different groups. Leprosy (211 cases) and tuberculosis (28 cases) were the commonest histopathologically diagnosed IGDS. Leprosy spectrum included BT (30.33% cases), followed by TT (21.32%), BL and LL and 21.79% cases of lepra reactions. Skin TB biopsies on histopathology showed lupus vulgaris (53.85% cases), scrofuloderma (15.38%), TBVC and papulonecrotic tuberculid (11.54% each). In leprosy maximum clinico-pathological agreement was seen at tuberculoid pole (TT 72.7% and BT 56.6%). Among tuberculosis cases, scrofuloderma (100%) and lupus vulgaris (53.8%) showed maximum agreement. Leprosy and skin TB are the commonest IGDS in Mumbai region though difficult to diagnose and subcategorize with certainty during initial stages. Histopathology plays the important role to elucidate the dilemma. This being a single center study, more such studies with a larger sample size are recommended to get more elaborate data and regional prevalence of these IGDS for a better overall approach to prevention, treatment and control.

Adult encephalitis surveillance: experiences from an Australian prospective sentinel site study.

PubMed

Eastwood, K; Paterson, B J; Levi, C; Givney, R; Loewenthal, M; DE Malmanche, T; Lai, K; Granerod, J; Durrheim, D N

2015-11-01

Few countries routinely collect comprehensive encephalitis data, yet understanding the epidemiology of this condition has value for clinical management, detecting novel and emerging pathogens, and guiding timely public health interventions. When this study was conducted there was no standardized diagnostic algorithm to aid identification of encephalitis or systematic surveillance for adult encephalitis. In July 2012 we tested three pragmatic surveillance options aimed at identifying possible adult encephalitis cases admitted to a major Australian hospital: hospital admissions searches, clinician notifications and laboratory test alerts (CSF herpes simplex virus requests). Eligible cases underwent structured laboratory investigation and a specialist panel arbitrated on the final diagnosis. One hundred and thirteen patients were initially recruited into the 10-month study; 20/113 (18%) met the study case definition, seven were diagnosed with infectious or immune-mediated encephalitis and the remainder were assigned alternative diagnoses. The laboratory alert identified 90% (102/113) of recruited cases including six of the seven cases of confirmed encephalitis suggesting that this may be a practical data source for case ascertainment. The application of a standardized diagnostic algorithm and specialist review by an expert clinical panel aided diagnosis of patients with encephalitis.

Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly

PubMed Central

Hall, John W.; Denne, Nicolas; Minardi, Joseph J.; Williams, Debra; Balcik, BJ

2016-01-01

Background Early pregnancy complaints in emergency medicine are common. Emergency physicians (EP) increasingly employ ultrasound (US) in the evaluation of these complaints. As a result, it is likely that rare and important diagnoses will be encountered. We report a case of fetal anencephaly diagnosed by bedside emergency US in a patient presenting with first-trimester vaginal bleeding. Case Report A 33-year-old patient at 10 weeks gestation presented with vaginal bleeding. After initial history and physical examination, a bedside US was performed. The EP noted the abnormal appearance of the fetal cranium and anencephaly was suspected. This finding was confirmed by a consultative high-resolution fetal US. Making the diagnosis at the point of care allowed earlier detection and more comprehensive maternal counseling about pregnancy options. This particular patient underwent elective abortion which was able to be performed at an earlier gestation, thus decreasing maternal risk. If this diagnosis would not have been recognized by the EP at the point of care, it may not have been diagnosed until the second trimester, and lower-risk maternal options would not have been available. PMID:27429697

TRTH-30. PRELIMINARY EXPERIENCE WITH SERIAL WHOLE EXOME SEQUENCING OF PEDIATRIC CNS TUMORS AT DIAGNOSIS AND RECURRENCE.

PubMed Central

Szalontay, Luca; Pendrick, Danielle; Feldstein, Neil; Anderson, Richard; Stark, Eileen; Bender, Julia Glade; Oberg, Jennifer; Hsiao, Susan; Turk, Andrew; Sireci, Anthony; Mansukhani, Mahesh; Garvin, James

2017-01-01

Abstract INTRODUCTION: Whole exome sequencing (WES) of newly diagnosed pediatric central nervous system (CNS) tumors is quickly becoming part of routine care. Through the Precision in Pediatric Sequencing (PiPseq) program at Columbia University, we have found potentially actionable mutations in more than 40% of evaluable CNS cases at diagnosis. More recently, we have integrated this approach into the management of patients undergoing surgery for CNS tumor recurrence. METHOD: After obtaining informed consent, tumor-normal WES with transcriptome analysis was performed in a CLIA-certified laboratory on fresh frozen or paraffin embedded CNS tumor samples and peripheral blood. RESULTS: 7 cases (5 male, 2 female; median age 5 years) with adequate diagnostic and recurrent tumor tissue were tested. No case had a somatic mutation of established clinical utility (tier 1). Among 3 embryonal tumors, a splice site variant in TSC1 (tier 2 mutation of potential utility) was detected in a medulloblastoma, but only at recurrence and not at initial diagnosis. FOXR2 overexpression was detected at diagnosis and confirmed at early progression of a temporal lobe tumor, prompting revision of the initial diagnosis of high grade glioma to CNS neuroblastoma subtype of PNET, and treated accordingly. In a third patient initially diagnosed with medulloblastoma, overexpression of PDGFRA, MDM4, CDKN2A, EGFR, OLIG2, and GFAP supported a change in diagnosis to glioblastoma. Two gliomas had tier 2 mutations detected at initial diagnosis and progression: SETD2 p.R2040* (optic nerve lesion, called pseudotumor initially but glioma at progression), and H3F3A p.K28M (thalamic low grade glioma). In one patient with ependymoma, copy number gain of 1q25 (associated with poor prognosis) was seen only in the recurrence specimen. CONCLUSION: Our preliminary experience suggests that in pediatric CNS tumor patients referred for reoperation at recurrence, repeat WES may reveal a previously unrecognized treatment option, at least in embryonal tumors.

Pediatric radiological diagnostic procedures in cases of suspected child abuse.

PubMed

Erfurt, C; Hahn, G; Roesner, D; Schmidt, U

2011-03-01

Advanced and specialized radiological diagnostic procedures are essential in cases of clinically diagnosed injuries to the head, thorax, abdomen or extremities of a child, especially if there is no case history or if the reporting of an inadequate trauma suggests battered child syndrome. In particular, these diagnostic procedures should aim at detecting lesions of the central nervous system (CNS), so that the treatment can be immediately initiated. If the diagnostic imaging reveals findings typically associated with child abuse, accurate documentation constituting evidence, which will stand up in court, is required to prevent any further endangerment of the child's welfare.

[Case of pediatric chronic myeloid leukemia with bilateral visual loss onset].

PubMed

Hara, Yusuke; Kamura, Yumi; Oikawa, Aki; Shichino, Hiroyuki; Mugishima, Hideo; Goto, Hiroshi

2010-05-01

Chronic myeloid leukemia (CML) during childhood is rare, and only been a few cases showed visual disturbances as an initial symptom. We report a pediatric CML case diagnosed by bilateral visual loss. An 11-year-old boy complained of visual loss in both eyes. His best corrected visual acuity was 0.5 in the right eye and 0.2 in the left. Fundus examination showed disc swelling, dilated and tortuous retinal veins and multiple elevated retinal lesions with hemorrhages of various size from one-forth to four disc diameters in both eyes. He was diagnosed as having CML by leucocytosis and systematic work-up including Philadelphia chromosome-positive, BCR-ABL kinase domain in peripheral blood and bone marrow. The ocular findings improved after treatment with hydroxyurea, leukocytaphresis and imatinib. His best corrected visual acuity improved to 0.7 in both eyes. Recent leukemia therapy including imatinib is effective not only for ocular lesions but also to induce hematological remission in childhood CML.

Leiomyoma originating from axilla: A rare case report and differential diagnosis.

PubMed

Kim, Ho Jun; Baek, Sang Oon; Rha, Eun Young; Lee, Jun Yong; Han, Hyun Ho

2016-07-01

Leiomyoma is a form of benign tumor originated in hypertrophy of the smooth muscles, which is most prevalent in the uterus and gastrointestinal tract. However, Leiomyoma originating from smooth muscle at the vessels lying on deep soft tissue is very rare. Our case was a rare case of leiomyoma originating from the axillary region, which was initially diagnosed as a fibroadenoma on radiological examination. The mass was separated from surrounding tissues and totally resected. Pathologically, hematoxylin-eosin-stained biopsy tissue showed the typical findings of leiomyoma. Postoperative follow-up observation was done for 1 year, without any complications or recurrence. Notably, a leiomyoma in the axillary region is difficult to differentiate from other benign or malignant tumors on preoperative radiological examinations such as ultrasonography or computed tomgraphy. Therefore, when an indefinite asymptomatic mass that is not lymphadenopathy or common benign tumor is identified in the axillary region, leiomyoma can be considered as one of the differential diagnoses.

[A case of tuberculous liver abscess developed during chemotherapy for tuberculous peritonitis as paradoxical response].

PubMed

Kim, Tae Kyung; Choi, Cheol Woong; Ha, Jong Kun; Jang, Hyung Ha; Park, Su Bum; Kim, Hyung Wook; Kang, Dae Hwan

2013-07-01

Tuberculous liver abscesses are rare. Paradoxical response in tuberculosis is common and occurred between 2 weeks and 12 weeks after anti-tuberculous medication. We report here a case of tuberculous liver abscess that developed in a paradoxical response during chemotherapy for tuberculous peritonitis in a 23-year-old male. He was hospitalized, complaining of ascites, epigastric pain. He was diagnosed tuberculous peritonitis by expiratory laparoscopic biopsy and took medication for tuberculosis. After 2 months, a hepatic lesion was detected with CT scan incidentally. Chronic granulomatous inflammation was seen in ultrasound-guided liver biopsy, and tuberculous liver abscess was diagnosed. It was considered as paradoxical response, rather than treatment failure or other else because clinical symptoms of peritoneal tuberculosis and CT scan improved. After continuing initial anti-tuberculous medication, he was successfully treated. Herein, we report a case of tuberculous liver abscess as paradoxical response while treating peritoneal tuberculosis without changing anti-tuberculous treatment regimen.

[Emergent Caesarean Section in a Patient with a Mediastinal Tumor and Von Recklinghausen Disease: A Case Report].

PubMed

Owada, Mayuko; Inomata, Shinichi; Danmura, Masato; Yamada, Kumiko; Tanaka, Makoto

2016-06-01

It is rare to encounter a pregnant patient with a mediastinal tumor, and if the tumor size increases as the pregnancy progresses, this increase can cause complications such as airway constriction and vascular occlusion. We report a case of a pregnant patient diagnosed with von Recklinghausen disease at the age of seven and diagnosed with a mediastinal tumors just after her present admission. The impending suffocation progressed and fetal heart rate decreased during her hospitalization. Her trachea was intubated and she was moved to an operating room for an emergent cesarean section under general anesthesia. With this rapid response, we could rescue both patient and infant. If the size of mediastinal tumor increases as pregnancy progresses, the tumor will cause suffocation by airway compression from the outside, in addition to specific airway edema on the inward side. The present case demonstrates that appropriate desisoins must be made for airway manegement and initiation of surgery.

Community pharmacy-based case finding for COPD in urban and rural settings is feasible and effective.

PubMed

Fathima, Mariam; Saini, Bandana; Foster, Juliet M; Armour, Carol L

2017-01-01

Case finding of patients at risk of COPD by community pharmacists could identify a substantial number of people with undiagnosed COPD, but little is known about the feasibility and effectiveness of pharmacy-based COPD case finding using microspirometry. The objective of this study was to assess the feasibility and effectiveness of COPD case-finding service provided by community pharmacists, utilizing a combination of risk assessment questionnaire and microspirometry. A 6-month service was conducted in 21 community pharmacies in Australia. Pharmacists trained in COPD case finding, including lung function test (LFT), invited their patients aged ≥35 years with a history of smoking and/or respiratory symptoms to participate. High-risk patients were identified via a COPD risk assessment questionnaire (Initial Screening Questionnaire [ISQ]) and underwent LFT. Pharmacists referred patients with a forced expiratory volume in 1 second (FEV 1 )/forced expiratory volume in 6 seconds (FEV 6 ) ratio <0.75 to their general practitioner (GP) for further assessment and diagnosis. In all, 91 of 167 (54%) patients had an ISQ score >3 indicating high COPD risk. Of the 157 patients who were able to complete LFT, 61 (39%) had an FEV 1 /FEV 6 ratio of <0.75 and were referred to their GP. Patients with high ISQ symptoms scores (>3) were at a significantly higher risk of an FEV 1 /FEV 6 ratio of <0.75, compared to patients with fewer COPD symptoms. A total of 15 (10%) patients were diagnosed with COPD by their GP. Another eight (5%) patients were diagnosed with other medical conditions and 87% of these were initiated on treatment. Although only half of all screened patients lived in regional areas, 93% of those diagnosed with COPD were from regional areas. A brief community pharmacy-based COPD case-finding service utilizing the ISQ, LFT and GP referral is feasible and may lead to identification and diagnosis of a substantial number of people with COPD. This might be an important strategy for reducing the burden of COPD, particularly for those living in rural locations.

Community pharmacy-based case finding for COPD in urban and rural settings is feasible and effective

PubMed Central

Fathima, Mariam; Saini, Bandana; Foster, Juliet M; Armour, Carol L

2017-01-01

Background and objective Case finding of patients at risk of COPD by community pharmacists could identify a substantial number of people with undiagnosed COPD, but little is known about the feasibility and effectiveness of pharmacy-based COPD case finding using microspirometry. The objective of this study was to assess the feasibility and effectiveness of COPD case-finding service provided by community pharmacists, utilizing a combination of risk assessment questionnaire and microspirometry. Methods A 6-month service was conducted in 21 community pharmacies in Australia. Pharmacists trained in COPD case finding, including lung function test (LFT), invited their patients aged ≥35 years with a history of smoking and/or respiratory symptoms to participate. High-risk patients were identified via a COPD risk assessment questionnaire (Initial Screening Questionnaire [ISQ]) and underwent LFT. Pharmacists referred patients with a forced expiratory volume in 1 second (FEV1)/forced expiratory volume in 6 seconds (FEV6) ratio <0.75 to their general practitioner (GP) for further assessment and diagnosis. Results In all, 91 of 167 (54%) patients had an ISQ score >3 indicating high COPD risk. Of the 157 patients who were able to complete LFT, 61 (39%) had an FEV1/FEV6 ratio of <0.75 and were referred to their GP. Patients with high ISQ symptoms scores (>3) were at a significantly higher risk of an FEV1/FEV6 ratio of <0.75, compared to patients with fewer COPD symptoms. A total of 15 (10%) patients were diagnosed with COPD by their GP. Another eight (5%) patients were diagnosed with other medical conditions and 87% of these were initiated on treatment. Although only half of all screened patients lived in regional areas, 93% of those diagnosed with COPD were from regional areas. Conclusion A brief community pharmacy-based COPD case-finding service utilizing the ISQ, LFT and GP referral is feasible and may lead to identification and diagnosis of a substantial number of people with COPD. This might be an important strategy for reducing the burden of COPD, particularly for those living in rural locations. PMID:29075108

Thyrotoxic periodic paralysis: a case report and literature review.

PubMed

Barahona, M J; Vinagre, I; Sojo, L; Cubero, J M; Pérez, Antonio

2009-09-01

We describe a 37-year-old man with a 4-month history of episodic muscular weakness, involving mainly lower-limbs. Hypokalemia was documented in one episode and managed with intravenous potassium chloride. Hyperthyroidism was diagnosed 4 months after onset of attacks because of mild symptoms. The patient was subsequently diagnosed as having thyrotoxic periodic paralysis associated with Graves' disease. Treatment with propranolol and methimazol was initiated and one year later he remains euthyroid and symptom free. Thyrotoxic periodic paralysis is a rare disorder, especially among Caucasians, but it should always be considered in patients with acute paralysis and hypokalemia, and thyroid function should be evaluated.

Metastatic carcinoma presenting as hind-limb lameness: diagnosis by synovial fluid cytology.

PubMed

Meinkoth, J H; Rochat, M C; Cowell, R L

1997-01-01

A dog presented for evaluation of left hind-limb lameness and pain associated with manipulation of the tail. Synovial metastasis of a carcinoma was diagnosed by joint fluid examination. A primary bronchiolar-alveolar carcinoma with widespread (including synovial and skeletal) metastases was diagnosed on postmortem examination. Metastasis to synovial surfaces is uncommon, but when it occurs, the metastasis-induced arthritis may be the initial presenting complaint for which medical attention is sought. Although rarely reported, cytological examination of synovial fluid may be diagnostic. This paper presents an interesting clinical case and reviews the literature concerning metastatic disease of the synovium.

Carotid body tumor imitator: An interesting case of Castleman's disease.

PubMed

Shakir, Hakeem J; Diletti, Sara M; Hart, Alexandra M; Meyers, Joshua E; Dumont, Travis M; Siddiqui, Adnan H

2015-01-01

There are very few reports in the literature of Castleman's disease affecting the carotid artery and a single previous report of a case of Castleman's disease of the neck originally mistaken as a carotid body tumor. We describe a rare case of Castleman's disease, manifesting with classic radiographic hallmarks of a carotid body tumor. The postoperative pathologic examination identified the resected mass as Castleman's lymphadenopathy. The management of this particular case is discussed, and the findings are highlighted. We present a unique case of a tumor initially and incorrectly diagnosed as a carotid body tumor. However, after comprehensive treatment with endovascular and surgical modalities and subsequent pathologic examination, the diagnosis of this rare entity was made.

Visual acuity loss and OCT changes as initial signs of leukaemia

PubMed Central

Ortiz, Jose M; Ruiz-Moreno, Jose M; Pozo-Martos, Paola; Montero, Javier A

2010-01-01

AIM To report two cases where decreased visual acuity was the first symptom of leukaemia and optical coherence tomography (OCT) allowed identification and localization of the retinal lesions. METHODS Retrospective, interventional, case reports. RESULTS One case of lymphoblastic acute leukaemia and chronic lymphoid leukaemia were diagnosed following decreased visual acuity. OCT showed macular serous detachment in the first case. The second case presented hypo fluorescent retinal infiltrates which appeared as hyper reflective lesions by OCT. Retinal changes disappeared and visual acuity was recovered following complete remission of the neoplasm. CONCLUSION OCT is a valuable, non invasive diagnostic tool permitting detection, localization and follow-up of ocular dissemination of neoplasms. PMID:22553573

HGF/c-MET Pathway in AIDS-Related Lymphoma

DTIC Science & Technology

2016-09-01

including asthma, atopic dermatitis, inflammatory bowel disease, eosinophilic esophagitis and acute lymphoblastic leukemia [15], but it has never been...2000; 356:2160. 9. Gorsky M, Epstein JB. A case series of acquired immunodeficiency syndrome patients with initial neoplastic diagnoses of intraoral...Acquired Immunodeficiency Syndrome (AIDS) pandemic counties of Africa, KS has become one of the commonest cancers affecting men and children with

Smear Campaign: Misattribution of Pancytopenia to a Tick-Borne Illness.

PubMed

Lee, Jessica; Azzawi, Soraya; Peluso, Michael J; Richterman, Aaron; Batlle, Haiyan Ramirez; Yialamas, Maria A

2018-04-01

We report the case of a 51-year-old woman presenting with a targetoid rash and pancytopenia after a tick bite. Initial evaluation was notable for severe neutropenia on the complete blood cell count differential, a positive Lyme IgM antibody, and a peripheral blood smear demonstrating atypical lymphocytes. While her pancytopenia was initially attributed to tick-borne illness, peripheral flow cytometry showed 7% myeloblasts, and a bone marrow biopsy confirmed 60% blasts. The patient was ultimately diagnosed with acute myelogenous leukemia, in addition to early, localized Lyme disease. This case highlights the differential diagnosis for pancytopenia, cytopenia patterns for different tick-borne illnesses, the risk of premature closure in internal medicine, and management of Lyme disease in hosts with altered immunity.

Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

PubMed

Bastug, Funda; Nalcacioglu, Hulya; Ozaltin, Fatih; Korkmaz, Emine; Yel, Sibel

2018-01-01

Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome. Bartter-like presentation may lead to delay in diagnosis and initiation of specific treatment for cystinosis. We report a case of a 6-year-old girl initially presenting with the features of Bartter syndrome that was diagnosed 2 years later with nephropathic cystinosis and a novel CTNS mutation.

Polycythemia vera presenting as acute myocardial infarction: An unusual presentation

PubMed Central

Bahbahani, Hussain; Aljenaee, Khaled; Bella, Abdelhaleem

2014-01-01

Acute myocardial infarction (AMI) is usually seen in the setting of atherosclerosis and its associated risk factors. Myocardial infarction in the young poses a particular challenge, as the disease is less likely, due to atherosclerosis. We report the case of a 37-year-old female patient who presented with ST segment elevation anterolateral AMI. The only abnormality on routine blood investigation was raised hemoglobin and hematocrit. After further testing, she was diagnosed according to the World Health Organization (WHO) criteria with polycythemia vera. This case illustrates the importance of recognizing polycythemia vera as an important cause of thrombosis, which can present initially as AMI, and to emphasize the early recognition of the disease in order to initiate appropriate management strategies. PMID:25544823

Immunological diagnosis as an adjunctive tool for an early diagnosis of tuberculous meningitis of an immune competent child in a low tuberculosis endemic country: a case report.

PubMed

Vita, Serena; Ajassa, Camilla; Caraffa, Emanuela; Lichtner, Miriam; Mascia, Claudia; Mengoni, Fabio; Paglia, Maria Grazia; Mancarella, Cristina; Colistra, Davide; Di Biasi, Claudio; Ciardi, Rosa Maria; Mastroianni, Claudio Maria; Vullo, Vincenzo

2017-03-13

Pediatric tuberculous meningitis is a highly morbid, often fatal disease. Its prompt diagnosis and treatment saves lives, in fact delays in the initiation of therapy have been associated with high mortality rates. This is a case of an Italian child who was diagnosed with tuberculous meningitis after a history of a month of headache, fatigue and weight loss. Cerebrospinal fluid analysis revealed a lymphocytic pleocytosis with predominance and decreased glucose concentration. Microscopy and conventional diagnostic tests to identify Mycobacterium tuberculosis were negative, while a non classical method based on intracellular cytokine flow cytometry response of CD4 cells in cerebral spinal fluid helped us to address the diagnosis, that was subsequently confirmed by a nested polymerase chain reaction amplifying a 123 base pair fragment of the M. tuberculosis DNA. We diagnosed tuberculous meningitis at an early stage through an innovative immunological approach, supported by a nested polymerase chain reaction for detection of M. tuberculosis DNA. An early diagnosis is required in order to promptly initiate a therapy and to increase the patient's survival.

Toxoplasmosis myelopathy and myopathy in an AIDS patient: a case of immune reconstitution inflammatory syndrome?

PubMed

Kung, Doris Hichi; Hubenthal, Erica A; Kwan, Justin Y; Shelburne, Samuel A; Goodman, Jerry C; Kass, Joseph S

2011-01-01

concurrent toxoplasmosis infection of the brain, spinal cord, and muscle has never been reported together in a patient antemortem. Toxoplasma gondii is the most common focal central nervous system opportunistic infection in the acquired immune deficiency syndrome (AIDS) population. Despite this fact, isolated toxoplasmosis infection in the spinal cord is rarely reported. In addition, toxoplasmic myositis is also rarely diagnosed and Toxoplasma cysts are seldom found on biopsy. We present a patient with AIDS and toxoplasmosis resistant to standard anti-Toxoplasma therapy. a 34-year-old man with a history of untreated AIDS presented with symptoms of myelopathy. Pathologically proven toxoplasmosis of the spinal cord was diagnosed and no brain lesions were found. However, despite appropriate treatment and initiation of highly active antiretroviral therapy, the patient developed worsening symptoms, including myopathy and autonomic instability. Muscle biopsy revealed Toxoplasma cysts, and there was laboratory evidence of a restored immune system. we report the first case of toxoplasmosis presenting initially with myelitis in the absence of encephalitis that subsequently progressed to myositis despite antiparasitic treatment. We also discuss the possibility of immune reconstitution inflammatory syndrome as a cause of his deterioration.

Post-sampling mortality and non-response patterns in the English Cancer Patient Experience Survey: Implications for epidemiological studies based on surveys of cancer patients.

PubMed

Abel, Gary A; Saunders, Catherine L; Lyratzopoulos, Georgios

2016-04-01

Surveys of the experience of cancer patients are increasingly being introduced in different countries and used in cancer epidemiology research. Sampling processes, post-sampling mortality and survey non-response can influence the representativeness of cancer patient surveys. We examined predictors of post-sampling mortality and non-response among patients initially included in the sampling frame of the English Cancer Patient Experience Survey. We also compared the respondents' diagnostic case-mix to other relevant populations of cancer patients, including incident and prevalent cases. Of 109,477 initially sampled cancer patients, 6273 (5.7%) died between sampling and survey mail-out. Older age and diagnosis of brain, lung and pancreatic cancer were associated with higher risk of post-sampling mortality. The overall response rate was 67% (67,713 respondents), being >70% for the most affluent patients and those diagnosed with colon or breast cancer and <50% for Asian or Black patients, those under 35 and those diagnosed with brain cancer. The diagnostic case-mix of respondents varied substantially from incident or prevalent cancer cases. Respondents to the English Cancer Patient Experience Survey represent a population of recently treated cancer survivors. Although patient survey data can provide unique insights for improving cancer care quality, features of survey populations need to be acknowledged when analysing and interpreting findings from studies using such data. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Detection of malignancy in body fluids: a comparison of the hematology and cytology laboratories.

PubMed

Jerz, Jaclyn L; Donohue, Rachel E; Mody, Rayomond R; Schwartz, Mary R; Mody, Dina R; Zieske, Arthur W

2014-05-01

Body fluids submitted to the hematology laboratory for cell counts may also be examined for the presence of malignancy. Previous studies evaluating the hematology laboratory's performance at detecting malignancy in body fluids have reached conflicting conclusions. To investigate the hematology laboratory's ability to detect malignancy in body fluids by comparison with cytology. Retrospective analysis of 414 body fluid samples during an 18-month period, with introduction of new quality assurance measures after the first 210 cases. If no concurrent cytology was ordered, results were compared with recent previous and/or subsequent cytologic, histologic, or flow cytometric diagnoses. Of the initial 210 cases, the hematology laboratory detected 3 of 13 malignancies diagnosed by concurrent cytology (23% sensitivity), with no false-positives (100% specificity). Malignancy was not identified on retrospective review of the hematology slides in the 10 discrepant cases. After the initial study, educational sessions on morphology for the medical technologists and a more thorough hematology-cytology correlation policy were implemented. The subsequent 204 hematology laboratory cases had increased sensitivity for the detection of malignancy (60%; 6 of 10). Definitive features of malignancy were seen in only one discrepant hematology laboratory slide on retrospective review. This case had not been flagged for hematopathologist review. None of the discrepancies before or after implementation of the additional quality assurance measures impacted patient care. Body fluid processing by the hematology laboratory is not optimized for the detection of malignancy. Concurrent cytologic examination is critical for the detection of malignancy, and needs to be considered as cost-saving measures are increasingly implemented.

Clinical Significance of Non-neutropenic Fever in the Management of Diffuse Large B-Cell Lymphoma Patients Treated with Rituximab-CHOP: Comparison with Febrile Neutropenia and Risk Factor Analysis.

PubMed

Park, Silvia; Kang, Cheol-In; Chung, Doo Ryeon; Peck, Kyong Ran; Kim, Won Seog; Kim, Seok Jin

2015-07-01

Rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) is the standard chemotherapy in diffuse large B-cell lymphoma (DLBCL) patients. Although febrile neutropenia (FN) is the major toxicity of this regimen, non-neutropenic fever (NNF) becomes an emerging issue. We analyzed clinical features and outcomes of febrile complications from 397 patients with newly diagnosed DLBCL who were registered in the prospective cohort study. They had completed R-CHOP between September 2008 and January 2013. Thirty-nine patients (9.8%) had NNF whereas 160 patients (40.3%) had FN. Among them, 24 patients (6.0%) had both during their treatment. Compared to frequent occurrence of initial FN after the first cycle (> 50% of total events), more than 80% of NNF cases occurred after the third cycle. Interstitial pneumonitis comprised the highest proportion of NNF cases (54.8%), although the causative organism was not identified in the majority of cases. Thus, pathogen was identified in a limited number of patients (n=9), and Pneumocystis jiroveci pneumonia (PJP) was the most common. Considering that interstitial pneumonitis without documented pathogen could be clinically diagnosed with PJP, the overall rate of PJP including probable cases was 4.5% (18 cases from 397 patients). The NNF-related mortality rate was 10.3% (four deaths from 39 patients with NNF) while the FN-related mortality rate was only 1.3%. NNF was observed with incidence of 10% during R-CHOP treatment, and showed different clinical manifestations with respect to the time of initial episode and causes.

Trends in incidence of end-stage renal disease among persons with diagnosed diabetes--Puerto Rico, 1996-2010.

PubMed

Burrows, Nilka Rios; Hora, Israel; Williams, Desmond E; Geiss, Linda S

2014-03-07

During 2010, approximately 6,091 persons aged ≥18 years in Puerto Rico were living with end-stage renal disease (ESRD) (i.e., kidney failure that requires regular dialysis or kidney transplantation for survival). This included 1,462 persons who began treatment for ESRD in 2010. Diabetes is the leading cause of ESRD in Puerto Rico, accounting for 66% of new cases in adults, followed by hypertension, which accounts for 15% of the cases. Although the number of adults initiating ESRD treatment (i.e., dialysis or kidney transplantation) in Puerto Rico each year who have diabetes listed as a primary cause (ESRD-D) has increased since 1996, ESRD-D incidence among adults with diagnosed diabetes has not shown a consistent trend. To assess recent trends in ESRD-D incidence among adults aged ≥18 years in Puerto Rico with diagnosed diabetes and to further examine trends by age group and sex, CDC analyzed 1996-2010 data from the U.S. Renal Data System (USRDS) and the Behavioral Risk Factor Surveillance System (BRFSS). After increasing in the late 1990s, ESRD-D incidence decreased during the 2000s among adult men and among persons aged 18-44 years with diagnosed diabetes in Puerto Rico. Throughout the period, ESRD-D incidence among adult women and among persons aged 45-64 and ≥75 years with diagnosed diabetes did not show a consistent trend, and ESRD-D incidence among persons aged 65-74 years with diagnosed diabetes increased. Increased awareness of the risk factors for kidney disease and implementation of effective interventions to prevent or delay kidney disease among persons with diagnosed diabetes might decrease ESRD incidence in Puerto Rico, particularly among women and older persons.

The Impact of a Line Probe Assay Based Diagnostic Algorithm on Time to Treatment Initiation and Treatment Outcomes for Multidrug Resistant TB Patients in Arkhangelsk Region, Russia.

PubMed

Eliseev, Platon; Balantcev, Grigory; Nikishova, Elena; Gaida, Anastasia; Bogdanova, Elena; Enarson, Donald; Ornstein, Tara; Detjen, Anne; Dacombe, Russell; Gospodarevskaya, Elena; Phillips, Patrick P J; Mann, Gillian; Squire, Stephen Bertel; Mariandyshev, Andrei

2016-01-01

In the Arkhangelsk region of Northern Russia, multidrug-resistant (MDR) tuberculosis (TB) rates in new cases are amongst the highest in the world. In 2014, MDR-TB rates reached 31.7% among new cases and 56.9% among retreatment cases. The development of new diagnostic tools allows for faster detection of both TB and MDR-TB and should lead to reduced transmission by earlier initiation of anti-TB therapy. The PROVE-IT (Policy Relevant Outcomes from Validating Evidence on Impact) Russia study aimed to assess the impact of the implementation of line probe assay (LPA) as part of an LPA-based diagnostic algorithm for patients with presumptive MDR-TB focusing on time to treatment initiation with time from first-care seeking visit to the initiation of MDR-TB treatment rather than diagnostic accuracy as the primary outcome, and to assess treatment outcomes. We hypothesized that the implementation of LPA would result in faster time to treatment initiation and better treatment outcomes. A culture-based diagnostic algorithm used prior to LPA implementation was compared to an LPA-based algorithm that replaced BacTAlert and Löwenstein Jensen (LJ) for drug sensitivity testing. A total of 295 MDR-TB patients were included in the study, 163 diagnosed with the culture-based algorithm, 132 with the LPA-based algorithm. Among smear positive patients, the implementation of the LPA-based algorithm was associated with a median decrease in time to MDR-TB treatment initiation of 50 and 66 days compared to the culture-based algorithm (BacTAlert and LJ respectively, p<0.001). In smear negative patients, the LPA-based algorithm was associated with a median decrease in time to MDR-TB treatment initiation of 78 days when compared to the culture-based algorithm (LJ, p<0.001). However, several weeks were still needed for treatment initiation in LPA-based algorithm, 24 days in smear positive, and 62 days in smear negative patients. Overall treatment outcomes were better in LPA-based algorithm compared to culture-based algorithm (p = 0.003). Treatment success rates at 20 months of treatment were higher in patients diagnosed with the LPA-based algorithm (65.2%) as compared to those diagnosed with the culture-based algorithm (44.8%). Mortality was also lower in the LPA-based algorithm group (7.6%) compared to the culture-based algorithm group (15.9%). There was no statistically significant difference in smear and culture conversion rates between the two algorithms. The results of the study suggest that the introduction of LPA leads to faster time to MDR diagnosis and earlier treatment initiation as well as better treatment outcomes for patients with MDR-TB. These findings also highlight the need for further improvements within the health system to reduce both patient and diagnostic delays to truly optimize the impact of new, rapid diagnostics.

Seasonal variations in tuberculosis diagnosis among HIV-positive individuals in Southern Africa: analysis of cohort studies at antiretroviral treatment programmes

PubMed Central

Ballif, Marie; Zürcher, Kathrin; Reid, Stewart E; Boulle, Andrew; Fox, Matthew P; Prozesky, Hans W; Chimbetete, Cleophas; Egger, Matthias; Fenner, Lukas

2018-01-01

Objectives Seasonal variations in tuberculosis diagnoses have been attributed to seasonal climatic changes and indoor crowding during colder winter months. We investigated trends in pulmonary tuberculosis (PTB) diagnosis at antiretroviral therapy (ART) programmes in Southern Africa. Setting Five ART programmes participating in the International Epidemiology Database to Evaluate AIDS in South Africa, Zambia and Zimbabwe. Participants We analysed data of 331 634 HIV-positive adults (>15 years), who initiated ART between January 2004 and December 2014. Primary outcome measure We calculated aggregated averages in monthly counts of PTB diagnoses and ART initiations. To account for time trends, we compared deviations of monthly event counts to yearly averages, and calculated correlation coefficients. We used multivariable regressions to assess associations between deviations of monthly ART initiation and PTB diagnosis counts from yearly averages, adjusted for monthly air temperatures and geographical latitude. As controls, we used Kaposi sarcoma and extrapulmonary tuberculosis (EPTB) diagnoses. Results All programmes showed monthly variations in PTB diagnoses that paralleled fluctuations in ART initiations, with recurrent patterns across 2004–2014. The strongest drops in PTB diagnoses occurred in December, followed by April–May in Zimbabwe and South Africa. This corresponded to holiday seasons, when clinical activities are reduced. We observed little monthly variation in ART initiations and PTB diagnoses in Zambia. Correlation coefficients supported parallel trends in ART initiations and PTB diagnoses (correlation coefficient: 0.28, 95% CI 0.21 to 0.35, P<0.001). Monthly temperatures and latitude did not substantially change regression coefficients between ART initiations and PTB diagnoses. Trends in Kaposi sarcoma and EPTB diagnoses similarly followed changes in ART initiations throughout the year. Conclusions Monthly variations in PTB diagnosis at ART programmes in Southern Africa likely occurred regardless of seasonal variations in temperatures or latitude and reflected fluctuations in clinical activities and changes in health-seeking behaviour throughout the year, rather than climatic factors. PMID:29330173

A Case of Myxedema Coma Presenting as a Brain Stem Infarct in a 74-Year-Old Korean Woman

PubMed Central

Ahn, Ji Yun; Kwon, Hyuk-Sool; Ahn, Hee Chol

2010-01-01

Myxedema coma is the extreme form of untreated hypothyroidism. In reality, few patients present comatose with severe myxedema. We describe a patient with myxedema coma which was initially misdiagnosed as a brain stem infarct. She presented to the hospital with alteration of the mental status, generalized edema, hypothermia, hypoventilation, and hypotension. Initially her brain stem reflexes were absent. After respiratory and circulatory support, her neurologic status was not improved soon. The diagnosis of myxedema coma was often missed or delayed due to various clinical findings and concomitant medical condition and precipitating factors. It is more difficult to diagnose when a patient has no medical history of hypothyroidism. A high index of clinical suspicion can make a timely diagnosis and initiate appropriate treatment. We report this case to alert clinicians considering diagnosis of myxedema coma in patients with severe decompensated metabolic state including mental change. PMID:20808690

A case of myxedema coma presenting as a brain stem infarct in a 74-year-old Korean woman.

PubMed

Ahn, Ji Yun; Kwon, Hyuk-Sool; Ahn, Hee Chol; Sohn, You Dong

2010-09-01

Myxedema coma is the extreme form of untreated hypothyroidism. In reality, few patients present comatose with severe myxedema. We describe a patient with myxedema coma which was initially misdiagnosed as a brain stem infarct. She presented to the hospital with alteration of the mental status, generalized edema, hypothermia, hypoventilation, and hypotension. Initially her brain stem reflexes were absent. After respiratory and circulatory support, her neurologic status was not improved soon. The diagnosis of myxedema coma was often missed or delayed due to various clinical findings and concomitant medical condition and precipitating factors. It is more difficult to diagnose when a patient has no medical history of hypothyroidism. A high index of clinical suspicion can make a timely diagnosis and initiate appropriate treatment. We report this case to alert clinicians considering diagnosis of myxedema coma in patients with severe decompensated metabolic state including mental change.

PCR negative cerebral malaria in a traveller returning from Mumbai.

PubMed

Bhome, Rohan; Bhome, Rahul

2011-08-11

The incidence of imported malaria to the UK is significant. The authors report a case of a healthy young man diagnosed with PCR negative cerebral malaria, a week after returning from Mumbai. The patient presented with acute confusion and vomiting. His condition deteriorated quickly warranting intubation, ventilation and transfer to intensive therapy unit. Extensive investigation did not find an underlying cause. Antimalarial treatment was initiated based on clinical suspicion despite a negative malarial screen. A rapid response to treatment followed such that the patient was extubated within 24 h. This case highlights the need for the UK Health Protection Agency to review its risk classification of malaria for travellers to Mumbai. Additionally, clinicians should promptly initiate antimalarial treatment in an unwell traveller returning from an endemic area when there is a high clinical suspicion even in the absence of a positive initial malaria screen.

[Nineteen cases of school-aged children with degenerative or metabolic neurological disorders initially presenting with learning difficulty and/or behavior disturbance].

PubMed

Honzawa, Shiho; Sugai, Kenji; Akaike, Hiroto; Nakayama, Tojo; Fujikawa, Yoshinao; Komaki, Hirofumi; Nakagawa, Eiji; Sasaki, Masayuki

2012-07-01

We reported 19 cases of school-aged children. They were initially judged to have learning difficulty or school maladaptation because of attention deficits, hyperactive behaviors or poor school performance, followed by the diagnosis such as degenerative or metabolic neurological diseases. The patients consisted of 4 cases of adrenoleukodystrophy, 5 cases of dentatorubral-pallidoluysian atrophy, 3 cases of Sanfilippo syndrome, 3 cases of subacute sclerosing panencephalitis, and each one case of juvenile Gaucher disease, juvenile Huntington disease, juvenile metachromatic leukodystrophy and Leigh disease. They had markedly poor school performance, and/or abnormal behaviors, followed by seizures, character disorders or psychomotor regression. The diagnostic clues included brain CT scan and/or MRI, peculiar facial appearance and notable family histories. When the children were indicated to have learning difficulty or maladjustment to school life, we should make deliberate differential diagnoses before concluding that they have a learning disorder and/or attention-deficit/hyperactivity disorder. Instead they should be recommended to visit child neurologists, when they present with any problems as aforesaid.

Cemento-Osseous Dysplasias: Imaging Features Based on Cone Beam Computed Tomography Scans.

PubMed

Cavalcanti, Paulo Henrique Pereira; Nascimento, Eduarda Helena Leandro; Pontual, Maria Luiza Dos Anjos; Pontual, Andréa Dos Anjos; Marcelos, Priscylla Gonçalves Correia Leite de; Perez, Danyel Elias da Cruz; Ramos-Perez, Flávia Maria de Moraes

2018-01-01

Imaging exams have important role in diagnosis of cemento-osseous dysplasia (COD). Cone beam computed tomography (CBCT) stands out for allowing three-dimensional image evaluation. This study aimed to assess the prevalence of cases diagnosed as COD on CBCT scans, as well identify the main imaging features related to these lesions. An analysis was performed in a database containing 22,400 radiological reports, in which all cases showing some type of COD were initially selected. These CBCT exams were reevaluated to confirm the radiographic diagnosis and determine the prevalence and distribution of the types of COD with regard to gender, age and preferred location, while describing its most common imaging aspects. Data were presented using descriptive analyses. There were 82 cases diagnosed as COD in the CBCT images (prevalence of 0.4%). The distribution of patients was 11 (13.4%) male and 71 (86.6%) female, with a mean age of 49.8 years (age-range 17-85 years). There were 47 (57.3%) cases of periapical COD, 23 (28%) of focal COD and 12 (14.6%) of florid COD. The mandible was more affected than the maxilla. In most cases, the lesions were mixed or hyperdense. All COD had well-defined limits and there were no cases of tooth displacement. In conclusion, periapical COD was the most common type and the most affected bone was the mandible. Imaging evaluation is critical for diagnosis and dentists should bear in mind all possible radiographic presentations of COD in order to prevent misleading diagnoses and consequently, inadequate treatments.

Outbreak of syphilis in men who have sex with men living in rural North Wales (UK) associated with the use of social media.

PubMed

Thomas, Daniel Rh; Williams, Christopher J; Andrady, Ushan; Anderson, Valerie; Humphreys, Sioned; Midgley, Claire M; Fina, Laia; Craine, Noel; Porter-Jones, Gary; Wilde, Alison; Whiteside, Chris

2016-08-01

To describe an outbreak of infectious syphilis in rural North Wales and the control measures implemented. Following reports of an increase of syphilis in North Wales, a multidisciplinary Outbreak Control Team (OCT) was established. A multilevel prevention and control response was initiated, including: active case surveillance, partner notification and treatment, sexual network analysis, awareness raising with professionals and affected communities, point-of-care syphilis testing at a sauna and a health promotion campaign targeting users of men who have sex with men (MSM) social network mobile phone applications (apps). Four cases of infectious syphilis were diagnosed in clinics in North Wales per 100 000 population in 2013 compared with a mean of one case per 100 000 in the preceding decade. Diagnosed cases peaked in January 2014, declining in the first half of 2014. Initial cases were clustered in the westerly rural counties of North Wales and were predominantly white men, self-reporting as MSM (median age: 34 years, range: 17-61). Point-of-care testing at a sauna did not identity further new infections, suggesting that the cluster was relatively focused and had probably been detected early. The use of apps to find sexual partners was a feature of the network affected. A health promotion campaign, initiated by the OCT, targeting men using MSM apps reached 92% of the 755 men messaged. The outbreak was successfully controlled. However, it is difficult to determine which of the interventions implemented were most effective. Future outbreaks should be used as an opportunity to evaluate interventions using apps. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Case report of anti-N-methyl-D-aspartate receptor encephalitis in a middle-aged woman with a long history of major depressive disorder.

PubMed

Rong, Xia; Xiong, Zhenzhen; Cao, Bingrong; Chen, Juan; Li, Mingli; Li, Zhe

2017-08-31

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disease involving antibodies against the NR1 subunits of NMDARs. The disease shows variable clinical presentation, and involves new-onset acute psychotic symptoms, making it difficult to differentiate from major depressive disorder with psychotic symptoms. Potential associations between this autoimmune disorder and onset or progression of major depressive disorder remains unclear. We present a rare case of a patient who had both major depressive disorder and anti-NMDAR encephalitis and in whom the encephalitis initially went undetected. The patient had been suffering from depressive disorder for more than 6 years without any treatment, when she was hospitalized for new-onset psychotic symptoms. She was initially diagnosed only with major depressive disorder with psychotic symptoms, but antipsychotics did not alleviate symptoms and the patient's psychiatric course began to fluctuate rapidly. Anti-NR1 IgG autoantibodies were detected in cerebrospinal fluid, and the combination of immunotherapy and antipsychotics proved more effective than antipsychotics alone. The patient was then also diagnosed with anti-NMDAR encephalitis. Our case suggests that clinicians should consider anti-NMDAR encephalitis when a patient with depressive disorder shows sudden fluctuations in psychiatric symptoms. It also highlights the need for research into possible relationships between anti-NMDAR encephalitis and major depressive disorder.

KB220Z™ a Pro-Dopamine Regulator Associated with the Protracted, Alleviation of Terrifying Lucid Dreams. Can We Infer Neuroplasticity-induced Changes in the Reward Circuit?

PubMed Central

McLaughlin, Thomas; Febo, Marcelo; Badgaiyan, Rajendra D.; Barh, Debmalya; Dushaj, Kristina; Braverman, Eric R.; Li, Mona; Madigan, Margaret A.; Blum, Kenneth

2017-01-01

Background Recent reports by our laboratory have indicated that lucid dreams may be linked to psychiatric conditions, including Attention Deficit Hyperactivity Disorder (ADHD) and other Reward Deficiency Syndrome-related diagnoses. In the latter case, it has been our observation that such lucid dreams can be unpleasant and frequently terrifying. Case presentations We present four cases of a dramatic and persistent alleviation of terrifying, lucid dreams in patients diagnosed with ADHD/PTSD and/or opiate/opioid addiction. The amelioration of such dreams could well be permanent, since the patients had stopped taking the nutraceutical for between 10 to 12 months, without their recollection or recurrence. In the first case, the patient is a 47-year-old, married male who required continued Buprenorphine/ Naloxone (Suboxone) treatment. The second case involved a 32-year-old female with the sole diagnosis of ADHD. The third case involves a 38-year-old male who carried the diagnoses of Substance Use Dependence and ADHD. The fourth case involved a 50-year-old female with the diagnoses of Alcohol Abuse, ADHD and Posttraumatic Stress Disorder. Results In order to attempt to understand the possibility of neuroplasticity, we evaluated the effect of KB220Z in non-opioid-addicted rats utilizing functional Magnetic Resonance Imaging methodology. While we cannot make a definitive claim because rat brain functional connectivity may not be exactly the same as humans, it does provide some interesting clues. We did find following seeding of the dorsal hippocampus, enhanced connectivity volume across several Regions of Interest (ROI), with the exception of the pre- frontal cortex. Interestingly, the latter region is only infrequently activated in lucid human dreaming, when the dreamer reports that he/she had the thought that they were dreaming during the lucid dream. Conclusions The four patients initially reported a gradual but, then, complete amelioration of their long-term, terrifying, lucid dreams, while taking KB220Z. The persistent amelioration of these dreams continued for up to 12 months, after a self-initiated, cessation of use of KB220Z. These particular cases raise the scientific possibility that KB200Z increases both dopamine stability as well as functional connectivity between networks of brain reward circuitry in both rodents and humans. The increase in connectivity volume in rodents suggest the induction of neuroplasticity changes, which may be analogous to those involved in human lucid dreaming as well as Rapid Eye Movement sleep. The possibility that the complex induces long-term, neuroplasticity changes must await more intensive investigations, involving large-population, double-blinded studies. PMID:28210713

Delusional parasitosis on the psychiatric consultation service – a longitudinal perspective: case study

PubMed Central

Pansare, Neha; Tobia, Anthony; Bisen, Viwek; Kaufman, Kenneth R.

2017-01-01

Background Delusional parasitosis is infrequently seen in hospital-based consultation–liaison psychiatry. Aims Although there are many publications on delusional parasitosis, this report reviews a unique case that was diagnosed during a hospital admission and treated over the next 36 months. Method Case report and literature review. Results This case report describes a 65-year-old man who was diagnosed with delusional parasitosis during a hospital admission for congestive heart failure and acute kidney injury. A longitudinal description of the patient’s condition during the hospital stay and in the 36 months following discharge, during which time he was treated by a consultation psychiatrist, is provided. Conclusions In discussing the treatment of a challenging presentation, this case demonstrates the opportunity for consultation psychiatrists to initiate care in patients who might not otherwise seek psychiatric services. Patients with somatic delusions represent one group of patients who are unlikely to independently seek psychiatric treatment. Declaration of interest None. Copyright and usage © The Royal College of Psychiatrists 2017. This is an open access article distributed under the terms of the Creative Commons Non-Commercial, No Derivatives (CC BY-NC-ND) license. PMID:28630746

Fine-needle aspiration of low-grade adenosquamous carcinomas of the breast: a report of three new cases.

PubMed

Bataillon, Guillaume; Collet, Jean-François; Voillemot, Nicole; Menet, Emmanuelle; Vincent-Salomon, Anne; Klijanienko, Jerzy

2014-01-01

To describe cytology patterns in low-grade adenosquamous carcinomas (LGASCs) of the breast. Low-grade adenosquamous carcinomas of the breast are a recently described rare variant of primary metaplastic carcinomas characterized by clinical indolence, slow evolution and excellent survival. To date, only 7 cases of LGASC were studied cytologically, and it was demonstrated that LGASC identification was difficult because its cellular components exhibited unspecific and nonsuspicious features. They consisted of irregularly clustered cells without prominent cytonuclear atypia, mitosis or necrosis. The presence of metaplastic cells or keratin debris was helpful in accurate tumor typing. We report here 3 additional cases of LGASC that were initially studied by fine-needle aspiration. We have also encountered diagnostic difficulties and misdiagnosed tumors, since 2 cases were underdiagnosed as 'suspicious' and only 1 was accurately diagnosed as malignancy. The review of our cases and the literature confirms that, despite its putative metaplastic origin, LGASC is an entity which is difficult to diagnose using classical cytological methods. Moreover, core-needle biopsy as well as frozen sections may also misdiagnose LGASC as a benign breast lesion. © 2014 S. Karger AG, Basel.

Autogenous bonding of tooth fragment retained in lower lip after trauma

PubMed Central

Lips, Andrea; da Silva, Luciana Pereira; Tannure, Patricia Nivoloni; Farinhas, João Alfredo; Primo, Laura Guimarães; de Araújo Castro, Gloria Fernanda

2012-01-01

In cases of trauma, dental fragments occasionally penetrate into the soft-tissues and may cause severe complications, if neglected. Clinical and radiographic examinations can provide a diagnosis and help in the surgical removal of any dental fragment embedded in soft-tissue. This case report concerns an 8-year-old boy who was diagnosed with a fragment of a fractured permanent central incisor crown located in the lower lip. The patient was seen initially at a general hospital, where the dental fragment went unnoticed. After 2 days, the patient was seen at the pediatric dentistry clinic, where a fragment embedded in the lower lip, causing a large swelling, was diagnosed. The fragment was removed surgically and bonded to the fractured tooth. A mouth guard was prescribed for sports. The importance of soft-tissue exploration even post-trauma was highlighted in this paper. PMID:23633815

Atypical Right Hepatectomy for Liver Metastasis from Ovarian Leiomyosarcoma - A Case Report and Literature Review.

PubMed

Bacalbasa, Nicolae; Taras, Cornelia; Orban, Carmen; Iliescu, Laura; Hurjui, Ioan; Hurjui, Marcela; Niculescu, Nicoleta; Cristea, Mirela; Balescu, Irina

2016-04-01

Ovarian leiomyosarcomas are extremely rare ovarian malignancies, usually associated with poor prognosis in terms of survival. Most often, ovarian leiomyosarcomas are diagnosed in postmenopausal women at an advanced stage of disease, the main symptoms consisting of abdominal pain. We present the case of a 52-year-old patient who was initially submitted to surgery for a large ruptured ovarian tumor in April 2009; at that time, total hysterectomy with bilateral adnexectomy, omentectomy, pelvic and para-aortic lymph node dissection were performed. The histopathological studies revealed the presence of an ovarian leiomyosarcoma. Five years later, the patient was diagnosed with a unique, ruptured liver metastasis and an atypical right hepatectomy was performed. The histopathological studies confirmed the metastatic origin of the lesion. At 2-year-follow-up the patient is still free from recurrent disease. Copyright© 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

PHACE syndrome misdiagnosed as a port-wine stain.

PubMed

Thomson, Jason; Greig, Aina; Lloyd, Claire; Morrison, Danny; Flohr, Carsten

2015-07-15

We present the case of a boy born with a large macular, segmental vascular anomaly over the left face, initially diagnosed as a capillary malformation (port-wine stain) by the postnatal paediatric team. The vascular anomaly in the face then grew rapidly during the first few weeks of life and started to occlude the left eye, causing parental concerns about the infant's vision. A dermatological opinion established that the lesion was a segmental infantile haemangioma (IH). This, in combination with the posterior fossa malformation previously detected on antenatal scanning and confirmed by an MRI postnatally, satisfied the criteria for Posterior fossa abnormalities, Haemangiomas, Arterial abnormalities, Cardiac abnormalities and Eye abnormalities (PHACE) syndrome: a rare cutaneous neurovascular syndrome. This case highlights the diagnostic challenge posed by early phenotypes of haemangiomas as well as the importance of correctly diagnosing PHACE syndrome. 2015 BMJ Publishing Group Ltd.

Congenital duodenal web (wind-soak variety) in the fourth part of the duodenum causing obstruction in a female child.

PubMed

Saha, N; Hasanuzaman, S M; Chowdhury, L H; Talukder, S A

2012-10-01

Delayed presentation of Duodenal Obstruction is a great diagnostic dilemma due to non-specific, varied & wide spectrum presentation. In this study, a 6 years female child presented with recurrent, intermittent, colicky abdominal pain with bilious vomiting, and occasional constipation from 9 months of her age, without having any significant family history or associated condition. She was initially diagnosed as a case of recurrent small bowel obstruction due to atypical variant of malrotation. But, after laparotomy, she was finally diagnosed as a case of recurrent duodenal obstruction due to Congenital Duodenal Web (Wind-Soak Variety) with a central hole in the fourth part of the duodenum. After uneventful recovery of post operative period the patient was discharged at 7th postoperative day & followed up upto 3 months. She had been found alright without any complication.

Type I Chiari malformation presenting central sleep apnea.

PubMed

Kitamura, Takuro; Miyazaki, Soichiro; Kadotani, Hiroshi; Kanemura, Takashi; Okawa, Masako; Tanaka, Toshihiko; Komada, Ichiro; Hatano, Taketo; Suzuki, Hideaki

2014-04-01

Sleep apnea is a rare but a well-known clinical feature of type I Chiari malformation. It may be obstructive or central in nature. Sleep apnea in patients with type I Chiari malformation rarely presents without accompanying neurological signs or symptoms. We here report a case of a 10-year-old girl who presented with central sleep apnea without any other neurological signs but was ultimately diagnosed with type I Chiari malformation. The patient initially showed mild improvement in symptoms after administration of an acetazolamide. Finally, posterior fossa decompression dramatically improved her respiratory status during sleep, both clinically and on polysomnography. This case suggests that type I Chiari malformation should be considered in the differential diagnoses of central apneas in children, even if there are no other neurological signs and symptoms. Furthermore, sagittal craniocervical magnetic resonance imaging may be necessary for a definitive diagnosis. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Anti-NMDA receptor encephalitis presenting as atypical anorexia nervosa: an adolescent case report.

PubMed

Mechelhoff, David; van Noort, Betteke Maria; Weschke, Bernhard; Bachmann, Christian J; Wagner, Christiane; Pfeiffer, Ernst; Winter, Sibylle

2015-11-01

Since 2007, more than 600 patients have been diagnosed with anti-N-methyl-D-aspartate (NMDA) receptor encephalitis, with almost 40 % of those affected being children or adolescents. In early phases of the illness, this life-threatening disease is characterized by psychiatric symptoms, such as depression, anxiety, obsessions, hallucinations or delusions. Consequently, a high percentage of patients receive psychiatric diagnoses at first, hindering the crucial early diagnosis and treatment of the anti-NMDA receptor encephalitis. We report on a 15-year-old girl initially presenting with pathological eating behaviour and significant weight loss resulting in an (atypical) anorexia nervosa (AN) diagnosis. Her early course of illness, diagnostic process, treatment and short-term outcome are described. This case report aims to raise awareness about the association between anorectic behaviour and anti-NMDA receptor encephalitis and highlight the importance of multidisciplinary teams in child and adolescent services.

The Impact and Cost of Scaling up GeneXpert MTB/RIF in South Africa

PubMed Central

Meyer-Rath, Gesine; Schnippel, Kathryn; Long, Lawrence; MacLeod, William; Sanne, Ian; Stevens, Wendy; Pillay, Sagie; Pillay, Yogan; Rosen, Sydney

2012-01-01

Objective We estimated the incremental cost and impact on diagnosis and treatment uptake of national rollout of Xpert MTB/RIF technology (Xpert) for the diagnosis of pulmonary TB above the cost of current guidelines for the years 2011 to 2016 in South Africa. Methods We parameterised a population-level decision model with data from national-level TB databases (n = 199,511) and implementation studies. The model follows cohorts of TB suspects from diagnosis to treatment under current diagnostic guidelines or an algorithm that includes Xpert. Assumptions include the number of TB suspects, symptom prevalence of 5.5%, annual suspect growth rate of 10%, and 2010 public-sector salaries and drug and service delivery costs. Xpert test costs are based on data from an in-country pilot evaluation and assumptions about when global volumes allowing cartridge discounts will be reached. Results At full scale, Xpert will increase the number of TB cases diagnosed per year by 30%–37% and the number of MDR-TB cases diagnosed by 69%–71%. It will diagnose 81% of patients after the first visit, compared to 46% currently. The cost of TB diagnosis per suspect will increase by 55% to USD 60–61 and the cost of diagnosis and treatment per TB case treated by 8% to USD 797–873. The incremental capital cost of the Xpert scale-up will be USD 22 million and the incremental recurrent cost USD 287–316 million over six years. Conclusion Xpert will increase both the number of TB cases diagnosed and treated and the cost of TB diagnosis. These results do not include savings due to reduced transmission of TB as a result of earlier diagnosis and treatment initiation. PMID:22693561

Scintigraphic Profile of Thyrotoxicosis Patients and Correlation with Biochemical and Sonological Findings

PubMed Central

Mohan, Abhish; Kumar, PG; Puri, Pankaj

2017-01-01

Introduction Thyrotoxicosis is a spectrum of disorder with a rather common clinical presentation with different aetiologies. The aetiological diagnosis is important as the management differs. It is essential to accurately diagnose the cause before starting treatment. Scintigraphy of thyroid helps in differentiating accurately the various causes. USG is routinely being advocated and T3/T4 ratio has also been used. Aim This study aims to evaluate the scintigraphic profile of thyrotoxicosis patients and to correlate biochemical and USG findings with scintigraphy. Materials and Methods A total of 60 newly diagnosed thyrotoxicosis patients based on biochemical reports were included in the study. They underwent further evaluation with ultrasonography and 99mTc scintigraphy. Results Of 60 patients of thyrotoxicosis, 45 cases were of Grave’s disease, 10 cases were of thyroiditis and five cases were of Toxic Multinodular Goiter (MNG). The clinical characteristics were helpful in establishing the diagnosis in only six (10%) patients who presented with classic features of Grave’s disease with ophthalmopathy. T3/T4 ratio greater than 20 was seen only in 29 (66%) patients of Grave’s disease and also in three (33.33%) of thyroiditis patients. USG had a sensitivity and specificity of 81.82% and 93.75% in diagnosing Graves’ disease and 100% and 82.4% in diagnosing thyroiditis respectively. Conclusion Clinical findings do not help in accurately delineating aetiological diagnosis of thyrotoxicosis. Serum T3/T4 ratio when used as a criterion has marked overlap between the various conditions causing thyrotoxicosis. USG has reasonable sensitivity however, misses many cases of early Grave’s disease. Follow up scintigraphy helps in a small population with resolving thyroiditis or early Grave’s disease where the initial scintiscan is normal or inconclusive. PMID:28658823

Scintigraphic Profile of Thyrotoxicosis Patients and Correlation with Biochemical and Sonological Findings.

PubMed

Avs, Anil Kumar; Mohan, Abhish; Kumar, P G; Puri, Pankaj

2017-05-01

Thyrotoxicosis is a spectrum of disorder with a rather common clinical presentation with different aetiologies. The aetiological diagnosis is important as the management differs. It is essential to accurately diagnose the cause before starting treatment. Scintigraphy of thyroid helps in differentiating accurately the various causes. USG is routinely being advocated and T3/T4 ratio has also been used. This study aims to evaluate the scintigraphic profile of thyrotoxicosis patients and to correlate biochemical and USG findings with scintigraphy. A total of 60 newly diagnosed thyrotoxicosis patients based on biochemical reports were included in the study. They underwent further evaluation with ultrasonography and 99mTc scintigraphy. Of 60 patients of thyrotoxicosis, 45 cases were of Grave's disease, 10 cases were of thyroiditis and five cases were of Toxic Multinodular Goiter (MNG). The clinical characteristics were helpful in establishing the diagnosis in only six (10%) patients who presented with classic features of Grave's disease with ophthalmopathy. T3/T4 ratio greater than 20 was seen only in 29 (66%) patients of Grave's disease and also in three (33.33%) of thyroiditis patients. USG had a sensitivity and specificity of 81.82% and 93.75% in diagnosing Graves' disease and 100% and 82.4% in diagnosing thyroiditis respectively. Clinical findings do not help in accurately delineating aetiological diagnosis of thyrotoxicosis. Serum T3/T4 ratio when used as a criterion has marked overlap between the various conditions causing thyrotoxicosis. USG has reasonable sensitivity however, misses many cases of early Grave's disease. Follow up scintigraphy helps in a small population with resolving thyroiditis or early Grave's disease where the initial scintiscan is normal or inconclusive.

Plain radiologic findings and chronological changes of incipient phase osteosarcoma overlooked by primary physicians.

PubMed

Song, Won Seok; Jeon, Dae-Geun; Cho, Wan Hyeong; Kong, Chang-Bae; Cho, Sang Hyun; Lee, Jung Wook; Lee, Soo-Yong

2014-06-01

We assessed the plain radiographic characteristics of 10 cases of osteosarcomas during the initial painful period that had been overlooked by a primary physician. In addition, we evaluated chronologic changes in radiographic findings from initial symptomatic period to the time of accurate diagnosis. The clinical records were reviewed for clinical parameters including age, sex, location, presenting symptoms, initial diagnosis, duration from initial symptoms to definite diagnosis, and initial and follow-up plain radiographic findings of the lesion. Initial clinical diagnoses included a sprain in 6, growing pain in 2, stress fracture in 1, and infection in 1 patient. Initial plain radiographic findings were trabecular destruction (100%), cortical disruption (60%), periosteal reaction (60%), and soft tissue mass (10%). Intramedullary matrix changes were osteosclerosis in 6 and osteolysis in 4 patients. On progression, 4 cases with minimal sclerosis changed to osteoblastic lesion in 3 patients and osteolytic lesion in 1. Four cases with faint osteolytic foci transformed into osteolytic lesion in 3 and mixed pattern in 1. Notable plain radiologic findings of incipient-stage osteosarcoma include trabecular disruption along with faint osteosclerosis or osteolysis. In symptomatic patients with trabecular destruction, additional imaging study including magnetic resonance imaging should be performed to exclude osteosarcoma in the incipient phase, even without radiologic findings suggesting malignant tumor, such as cortical destruction or periosteal reaction.

High laboratory cost predicted per tuberculosis case diagnosed with increased case finding without a triage strategy.

PubMed

Dunbar, R; Naidoo, P; Beyers, N; Langley, I

2017-09-01

Cape Town, South Africa. To model the effects of increased case finding and triage strategies on laboratory costs per tuberculosis (TB) case diagnosed. We used a validated operational model and published laboratory cost data. We modelled the effect of varying the proportion with TB among presumptive cases and Xpert cartridge price reductions on cost per TB case and per additional TB case diagnosed in the Xpert-based vs. smear/culture-based algorithms. In our current scenario (18.3% with TB among presumptive cases), the proportion of cases diagnosed increased by 8.7% (16.7% vs. 15.0%), and the cost per case diagnosed increased by 142% (US$121 vs. US$50). The cost per additional case diagnosed was US$986. This would increase to US$1619 if the proportion with TB among presumptive cases was 10.6%. At 25.9-30.8% of TB prevalence among presumptive cases and a 50% reduction in Xpert cartridge price, the cost per TB case diagnosed would range from US$50 to US$59 (comparable to the US$48.77 found in routine practice with smear/culture). The operational model illustrates the effect of increased case finding on laboratory costs per TB case diagnosed. Unless triage strategies are identified, the approach will not be sustainable, even if Xpert cartridge prices are reduced.

Predictive value of autoantibody testing for validating self-reported diagnoses of rheumatoid arthritis in the Women's Health Initiative.

PubMed

Walitt, Brian; Mackey, Rachel; Kuller, Lewis; Deane, Kevin D; Robinson, William; Holers, V Michael; Chang, Yue-Fang; Moreland, Larry

2013-05-01

Rheumatoid arthritis (RA) research using large databases is limited by insufficient case validity. Of 161,808 postmenopausal women in the Women's Health Initiative, 15,691 (10.2%) reported having RA, far higher than the expected 1% population prevalence. Since chart review for confirmation of an RA diagnosis is impractical in large cohort studies, the current study (2009-2011) tested the ability of baseline serum measurements of rheumatoid factor and anti-cyclic citrullinated peptide antibodies, second-generation assay (anti-CCP2), to identify physician-validated RA among the chart-review study participants with self-reported RA (n = 286). Anti-CCP2 positivity had the highest positive predictive value (PPV) (80.0%), and rheumatoid factor positivity the lowest (44.6%). Together, use of disease-modifying antirheumatic drugs and anti-CCP2 positivity increased PPV to 100% but excluded all seronegative cases (approximately 15% of all RA cases). Case definitions inclusive of seronegative cases had PPVs between 59.6% and 63.6%. False-negative results were minimized in these test definitions, as evidenced by negative predictive values of approximately 90%. Serological measurements, particularly measurement of anti-CCP2, improved the test characteristics of RA case definitions in the Women's Health Initiative.

Branchial fistula arising from pyriform fossa: CT diagnosis of a case and discussion of radiological features.

PubMed

Chauhan, Narvir Singh; Sharma, Yash Paul; Bhagra, Tilak; Sud, Bindu

2012-01-01

Anomalies of third or fourth branchial apparatus origin are very uncommon and present as recurrent neck infections or thyroiditis with a predominant left-sided involvement. Radiological diagnosis requires a high index of suspicion and is critical for initiation of proper treatment. We describe a case of branchial sinus of pyriform fossa with external fistulization that presented in adulthood and was diagnosed on computed tomographic scan. The radiological features of this rare anomaly are revisited. Copyright © 2012 Elsevier Inc. All rights reserved.

[Pearson syndrome. Case report].

PubMed

Cammarata-Scalisi, Francisco; López-Gallardo, Ester; Emperador, Sonia; Ruiz-Pesini, Eduardo; Da Silva, Gloria; Camacho, Nolis; Montoya, Julio

2011-09-01

Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondrial DNA. This entity has been associated to diverse phenotypes within the broad clinical spectrum of mitochondrial disease.

Unusual case of left atrial myxoma with gastroesophageal junction adenocarcinoma.

PubMed

Singh, Narinder Pal; Nagpal, Swapan Deep Singh; Goel, Arun Kumar; Dhingra, Bhupendra Kr

2018-02-01

Cardiac myxomas are rare tumors. Esophageal adenocarcinomas are common tumors of the gastrointestinal tract. Simultaneous occurrence of these tumors has not been reported. A 52-year-old gentleman presented to our hospital with dysphagia and was diagnosed with esophageal adenocarcinoma. Routine echocardiography discovered a cardiac tumor in the left atrium. The cardiac tumor was surgically removed and biopsy confirmed a myxoma. We removed the cardiac tumor as the first step and then initiated neoadjuvant chemotherapy. It is ideal to constitute a multidisciplinary team to decide on the course of treatment in such cases.

Subtotal resection and omentoplasty of the epidermoid splenic cyst: a case report

PubMed Central

Spahija, Gazmend S; Hashani, Shemsedin I; Osmani, Eshref A; Hoxha, Sejdullah A; Hamza, Astrit H; Gashi-Luci, Lumturije H

2009-01-01

Introduction Nonparasitic splenic cysts are uncommon clinical entity and because of it, there is no information regarding their optimal surgical treatment. Case presentation A 41-years-old female with incidentally diagnosed nonparasitic splenic cyst which initially was asymptomatic. After two years of follow up, the patient underwent surgery; subtotal cystectomy and omentoplasty as an additional procedure. Postoperative course was uneventful. Conclusion Short and mid term results showed that near total cystectomy with omentoplasty was a safe successful procedure for treatment of epidermoid splenic cyst. PMID:19829799

Missed Diagnosis of Cardiovascular Disease in Outpatient General Medicine: Insights from Malpractice Claims Data.

PubMed

Quinn, Gene R; Ranum, Darrell; Song, Ellen; Linets, Margarita; Keohane, Carol; Riah, Heather; Greenberg, Penny

2017-10-01

Diagnostic errors are an underrecognized source of patient harm, and cardiovascular disease can be challenging to diagnose in the ambulatory setting. Although malpractice data can inform diagnostic error reduction efforts, no studies have examined outpatient cardiovascular malpractice cases in depth. A study was conducted to examine the characteristics of outpatient cardiovascular malpractice cases brought against general medicine practitioners. Some 3,407 closed malpractice claims were analyzed in outpatient general medicine from CRICO Strategies' Comparative Benchmarking System database-the largest detailed database of paid and unpaid malpractice in the world-and multivariate models were created to determine the factors that predicted case outcomes. Among the 153 patients in cardiovascular malpractice cases for whom patient comorbidities were coded, the majority (63%) had at least one traditional cardiac risk factor, such as diabetes, tobacco use, or previous cardiovascular disease. Cardiovascular malpractice cases were more likely to involve an allegation of error in diagnosis (75% vs. 47%, p <0.0001), have high clinical severity (86% vs. 49%, p <0.0001) and result in death (75% vs. 27%, p <0.0001), as compared to noncardiovascular cases. Initial diagnoses of nonspecific chest pain and mimics of cardiovascular pain (for example, esophageal disease) were common and independently increased the likelihood of a claim resulting in a payment (p <0.01). Cardiovascular malpractice cases against outpatient general medicine physicians mostly occur in patients with conventional risk factors for coronary artery disease and are often diagnosed with common mimics of cardiovascular pain. These findings suggest that these patients may be high-yield targets for preventing diagnostic errors in the ambulatory setting. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Imported and autochthonous leprosy presenting in Madrid (1989-2015): A case series and review of the literature.

PubMed

Norman, Francesca F; Fanciulli, Chiara; Pérez-Molina, José-Antonio; Monge-Maillo, Begoña; López-Vélez, Rogelio

2016-01-01

Leprosy remains infrequent in non-endemic areas. The objective of this study was to describe the cases of leprosy reviewed at a referral unit for imported diseases in Europe and to compare these findings with published data on imported leprosy. Cases of leprosy evaluated at a referral centre are described and salient features of autochthonous and imported cases are compared. A review of the literature on imported leprosy was performed. During the study period, 25 patients with leprosy were followed-up (10 were autochthonous cases and 15 were considered to be imported). Regarding imported cases, the majority were diagnosed in Latin American immigrants (10/15, 67%), mean age was 42 years, there were no differences in gender distribution, estimated average time from arrival in Spain to first visit at the unit was 3 years and from symptom onset to diagnosis was 2 years. Over 80% of imported cases had multibacillary disease and over one third of patients had been previously diagnosed with leprosy. One third had received alternate incorrect diagnoses initially, <50% of patients with imported leprosy completed standard therapy and were considered cured and over one third were lost to follow-up. Leprosy remains a complex disease for healthcare professionals unfamiliar with this infection. Manifestations are polymorphic so misdiagnoses and consequent delays in diagnosis are not infrequent and may lead to resulting disabilities. Early diagnosis and management are essential to prevent sequelae and possible transmission. Improving access to health care, especially for vulnerable groups, would be necessary to advance in the control of this disease. Copyright © 2016 Elsevier Ltd. All rights reserved.

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.

Racial and Ethnic Differences in Substance Use Diagnoses, Comorbid Psychiatric Disorders, and Treatment Initiation among HIV-Positive and HIV-Negative Women in an Integrated Health Plan.

PubMed

Storholm, Erik David; Silverberg, Michael J; Satre, Derek D

2016-01-01

Access to substance use disorder (SUD) treatment is a critical issue for women with HIV. This study examined differences in SUD diagnoses, comorbid psychiatric diagnoses, and predictors of SUD treatment initiation among a diverse sample of HIV-positive women (n = 228) and a demographically similar cohort of HIV-negative women (n = 693). Diagnoses and service utilization data were obtained from electronic health records of members of a large integrated healthcare system in Northern California. HIV-positive women were less likely to initiate SUD treatment. Significant racial/ethnic differences were found among both HIV-positive and HIV-negative women with respect to SUD diagnosis type and diagnosis of comorbid psychiatric disorders. Among the HIV-negative women, rates of SUD treatment initiation were lower for black women than for white or Latina women. Multivariable logistic regression models showed that alcohol, cannabis, and opiate diagnoses were predictive of SUD treatment initiation for both cohorts, while amphetamine diagnoses, comorbid depressive disorder, and being white or Latina were predictive of SUD treatment initiation for HIV-negative, but not HIV-positive, women. Findings suggest that clinicians need to be aware of differences in substances of abuse, comorbid psychiatric disorders, and to consider the demographic and social factors that may contribute to differences in SUD treatment initiation among HIV-positive and HIV-negative women.

Fine needle aspiration cytology in lymphadenopathy of HIV-positive cases.

PubMed

Saikia, U N; Dey, P; Jindal, B; Saikia, B

2001-01-01

To evaluate the role of fine needle aspiration biopsy (FNAB) material in 25 HIV-positive cases with lymphadenopathy. We selected 25 cases for the present study who were enzyme-linked immunosorbent assay positive for HIV (HIV-1). FNAB was performed as a routine, outdoor procedure with informed consent of the patient. For each case, along with routine May-Grünwald-Giemsa and hematoxylin and eosin staining, Ziehl-Neelsen staining for acid-fast bacilli and periodic acid-Schiff staining for fungi were performed wherever necessary. A total of 28 sites were aspirated from 25 HIV patients. All these patients were heterosexual, and none had a history of drug abuse. FNAB was performed under ultrasound guidance in all four cases of a retroperitoneal group of lymph nodes. The most common FNAB diagnosis was reactive lymphoid hyperplasia (10), followed by tuberculosis (8). There were three cases diagnosed as fungal infection (two, Cryptococcus; one, histoplasmosis). FNAB of a case of lymph node was suggestive of tuberculosis. There was one case each diagnosed as non-Hodgkin's lymphoma and squamous cell carcinoma (metastatic). One case of a small axillary lymph node did not yield representative material. FNAB is a relatively inexpensive initial investigative technique in the diagnosis and management of HIV-positive patients. It can obviate the need for surgical excision and enable immediate treatment of specific infections.

[The Spanish Society of Cytology: Quality control program of gynecological cytology].

PubMed

Alameda, Francesc; Aso, Sonsoles; Catalina, Inmaculada; Comes, M Dolores; Gomez Mateo, M Carmen; Granados, Rosario; Lloveras, Belén; Oncins, Rosa; Rezola Bajineta, Marta; Treserra, Francesc

In Spain, the guidelines for cervical cancer screening include a recommendation to enroll in external quality control programs. The Spanish Society of Cytology (SEC) has initiated its own quality control program of gynecological cytology (QCPGC). To describe and discuss the results of the second round of SEĆs QCPGC. The cases are selected by a group of expert cytologists. The cases with an agreement of 75% of four cytopathologists were used. The cases were scanned with Aperio. The scanned cases not available were excluded. We included a total of 23 cases, 1 negative, 15 low grade lesions (4 ASCUS and 11 LSIL) and 7 high grade lesions (1 ASCH and 6 HSIL). Sixteen cases were studied with ThinPrep™ platform and in 7 cases the SurePath™ platform was used. Sixteen hospitals participated. The global mean concordance was 70.6%. The mean concordance in the type of lesion was 63.1%. The concordance was 71.9% in negative diagnoses, 56.2% in ASCUS, 69.5% in LSIL and 82.8% in HSIL The discordant cases were diagnosed more frequently as negative and ASCUS. 4.4% of cases had major discordances (HSIL or ASCH versus negatives). Our results are similar to those reported in the literature, with very few severe discordances. Copyright © 2017 Sociedad Española de Anatomía Patológica. Publicado por Elsevier España, S.L.U. All rights reserved.

POPLITEUS STRAIN WITH CONCURRENT DELTOID LIGAMENT SPRAIN IN AN ELITE SOCCER ATHLETE: A CASE REPORT

PubMed Central

Beaumont, Josh; Tarnay, Lorena; Silvers, Holly

2013-01-01

Study Design: Case Report (Differential diagnosis) Background and Purpose: Differential diagnosis of knee pathology after trauma may be difficult when diagnosing an isolated popliteus strain and concurrent medial deltoid ligament sprain. Upon a thorough search of the published literature, the authors found no reports delineating a popliteus strain in professional soccer in the United States. The joints most affected by injury in soccer players are the knee and ankle joints. The purpose of this case report is to describe the presentation of and difficulties encountered in diagnosing a popliteus strain in a Major League Soccer athlete. Case Description: During an in-season away game, an outside defender was slide-tackled from behind when his right shank was caught in an externally rotated position underneath himself and the opposing player. The initial point of contact was made to the proximal third of the posterior right shank with an anteromedially directed force. The medial longitudinal arch of the foot was forced into a more midfoot pronated position and the subtalar joint was forced into eversion. Diagnosis: The athlete was diagnosed with a moderate strain of the right popliteus muscle with a concurrent medial deltoid ligament sprain of the right ankle. This mechanism of injury, pain with passive knee flexion and internal rotation during McMurray's test, pain with Garrick's Test and magnetic resonance imaging (MRI) study confirmed the diagnosis. The athlete returned to full ninety-minute game participation after an intensive 15-day rehabilitation program. Discussion: This case is unique because the injury manifested itself at multiple joints and specifically involved the popliteus muscle. The mechanism of injury can be associated with many other soft tissue injuries to the knee, and thus, may not lead the clinician initially to consider the diagnosis of a popliteus strain. Diagnosis of this entity may be difficult due to the possible shared attachment of the popliteus muscle to the lateral meniscus, and the lack of available testing methods to assess damage to the popliteus muscle. Level of Evidence: Level 5 PMID:24175131

International non-governmental organizations' provision of community-based tuberculosis care for hard-to-reach populations in Myanmar, 2013-2014.

PubMed

Soe, Kyaw Thu; Saw, Saw; van Griensven, Johan; Zhou, Shuisen; Win, Le; Chinnakali, Palanivel; Shah, Safieh; Mon, Myo Myo; Aung, Si Thu

2017-03-24

National tuberculosis (TB) programs increasingly engage with international non-governmental organizations (INGOs), especially to provide TB care in complex settings where community involvement might be required. In Myanmar, however, there is limited data on how such INGO community-based programs are organized and how effective they are. In this study, we describe four INGO strategies for providing community-based TB care to hard-to-reach populations in Myanmar, and assess their contribution to TB case detection. We conducted a descriptive study using program data from four INGOs and the National TB Program (NTP) in 2013-2014. For each INGO, we extracted information on its approach and key activities, the number of presumptive TB cases referred and undergoing TB testing, and the number of patients diagnosed with TB and their treatment outcomes. The contribution of INGOs to TB diagnosis in their selected townships was calculated as the proportion of INGO-diagnosed new TB cases out of the total NTP-diagnosed new TB cases in the same townships. All four INGOs implemented community-based TB care in challenging contexts, targeting migrants, post-conflict areas, the urban poor, and other vulnerable populations. Two recruited community volunteers via existing community health volunteers or health structures, one via existing community leaderships, and one directly involved TB infected/affected individuals. Two INGOs compensated volunteers via performance-based financing, and two provided financial and in-kind initiatives. All relied on NTP laboratories for diagnosis and TB drugs, but provided direct observation treatment support and treatment follow-up. A total of 21 995 presumptive TB cases were referred for TB diagnosis, with 7 383 (34%) new TB cases diagnosed and almost all (98%) successfully treated. The four INGOs contributed to the detection of, on average, 36% (7 383/20 663) of the total new TB cases in their respective townships (range: 15-52%). Community-based TB care supported by INGOs successfully achieved TB case detection in hard-to-reach and vulnerable populations. This is vital to achieving the World Health Organization End TB Strategy targets. Strategies to ensure sustainability of the programs should be explored, including the need for longer-term commitment of INGOs.

Case report of narcolepsy in a six-year-old child initially misdiagnosed as atypical epilepsy

PubMed Central

ZHOU, Jinquan; ZHANG, Xi; DONG, Zaiwen

2014-01-01

Summary This report describes a case of first-onset narcolepsy in a six-year-old female that was misdiagnosed as atypical epilepsy and other diagnoses at eight different hospitals over a period of 10 months before the correct diagnosis was made. The diagnosis of narcolepsy is more difficult in children because very few of them experience all four cardinal symptoms of narcolepsy – paroxysmal sleep, cataplexy, hypnagogic hallucination, and sleep paralysis – and they often have a more prolonged onset and diverse symptoms. To decrease the time lag between initial presentation and accurate diagnosis, we recommend that in all cases in which children report excessive sleep of unknown etiology – regardless of the associated symptoms – that sleep monitoring and sleep latency tests be conducted to rule out the possibility of narcolepsy. The case highlights the wide variety of presentations of uncommon psychiatric conditions, particularly in children, and the need for clinicians to be aware of the atypical presentations of these conditions when collecting medical histories. PMID:25317010

Case report of narcolepsy in a six-year-old child initially misdiagnosed as atypical epilepsy.

PubMed

Zhou, Jinquan; Zhang, Xi; Dong, Zaiwen

2014-08-01

This report describes a case of first-onset narcolepsy in a six-year-old female that was misdiagnosed as atypical epilepsy and other diagnoses at eight different hospitals over a period of 10 months before the correct diagnosis was made. The diagnosis of narcolepsy is more difficult in children because very few of them experience all four cardinal symptoms of narcolepsy - paroxysmal sleep, cataplexy, hypnagogic hallucination, and sleep paralysis - and they often have a more prolonged onset and diverse symptoms. To decrease the time lag between initial presentation and accurate diagnosis, we recommend that in all cases in which children report excessive sleep of unknown etiology - regardless of the associated symptoms - that sleep monitoring and sleep latency tests be conducted to rule out the possibility of narcolepsy. The case highlights the wide variety of presentations of uncommon psychiatric conditions, particularly in children, and the need for clinicians to be aware of the atypical presentations of these conditions when collecting medical histories.

Why wait? The social determinants underlying tuberculosis diagnostic delay

PubMed Central

Saunders, Matthew James; Zegarra, Roberto; Evans, Carlton; Alegria-Flores, Kei; Guio, Heinner

2017-01-01

Background Early detection and diagnosis of tuberculosis remain major global priorities for tuberculosis control. Few studies have used a qualitative approach to investigate the social determinants contributing to diagnostic delay and none have compared data collected from individual, community, and health-system levels. We aimed to characterize the social determinants that contribute to diagnostic delay among persons diagnosed with tuberculosis living in resource-constrained settings. Methods/Principle findings Data were collected in public health facilities with high tuberculosis incidence in 19 districts of Lima, Peru. Semi-structured interviews with persons diagnosed with tuberculosis (n = 105) and their family members (n = 63) explored health-seeking behaviours, community perceptions of tuberculosis and socio-demographic circumstances. Focus groups (n = 6) were conducted with health personnel (n = 35) working in the National Tuberculosis Program. All interview data were transcribed and analysed using a grounded theory approach. The median delay between symptom onset and the public health facility visit that led to the first positive diagnostic sample was 57 days (interquartile range 28–126). The great majority of persons diagnosed with tuberculosis distrusted the public health system and sought care at public health facilities only after exhausting other options. It was universally agreed that persons diagnosed with tuberculosis faced discrimination by public and health personnel. Self-medication with medicines bought at local pharmacies was reported as the most common initial health-seeking behaviour due to the speed and low-cost of treatment in pharmacies. Most persons diagnosed with tuberculosis initially perceived their illness as a simple virus. Conclusions Diagnostic delay was common and prolonged. When individuals reached a threshold of symptom severity, they addressed their health with the least time-consuming, most economically feasible, and well-known healthcare option available to them. In high-burden settings, more human and material resources are required to promote tuberculosis case-finding initiatives, reduce tuberculosis associated stigma and address the social determinants underlying diagnostic delay. PMID:28945782

Why wait? The social determinants underlying tuberculosis diagnostic delay.

PubMed

Bonadonna, Lily Victoria; Saunders, Matthew James; Zegarra, Roberto; Evans, Carlton; Alegria-Flores, Kei; Guio, Heinner

2017-01-01

Early detection and diagnosis of tuberculosis remain major global priorities for tuberculosis control. Few studies have used a qualitative approach to investigate the social determinants contributing to diagnostic delay and none have compared data collected from individual, community, and health-system levels. We aimed to characterize the social determinants that contribute to diagnostic delay among persons diagnosed with tuberculosis living in resource-constrained settings. Data were collected in public health facilities with high tuberculosis incidence in 19 districts of Lima, Peru. Semi-structured interviews with persons diagnosed with tuberculosis (n = 105) and their family members (n = 63) explored health-seeking behaviours, community perceptions of tuberculosis and socio-demographic circumstances. Focus groups (n = 6) were conducted with health personnel (n = 35) working in the National Tuberculosis Program. All interview data were transcribed and analysed using a grounded theory approach. The median delay between symptom onset and the public health facility visit that led to the first positive diagnostic sample was 57 days (interquartile range 28-126). The great majority of persons diagnosed with tuberculosis distrusted the public health system and sought care at public health facilities only after exhausting other options. It was universally agreed that persons diagnosed with tuberculosis faced discrimination by public and health personnel. Self-medication with medicines bought at local pharmacies was reported as the most common initial health-seeking behaviour due to the speed and low-cost of treatment in pharmacies. Most persons diagnosed with tuberculosis initially perceived their illness as a simple virus. Diagnostic delay was common and prolonged. When individuals reached a threshold of symptom severity, they addressed their health with the least time-consuming, most economically feasible, and well-known healthcare option available to them. In high-burden settings, more human and material resources are required to promote tuberculosis case-finding initiatives, reduce tuberculosis associated stigma and address the social determinants underlying diagnostic delay.

Weight loss and fatigue in an elderly patient.

PubMed

Waring, W S; McKnight, J A

2005-02-01

We report a recent clinical case of an elderly patient who presented with weight loss and fatigue and who was diagnosed with hyperthyroidism. Some time later, he was discovered to have underlying oesophageal lymphoma. The latter diagnosis was believed to contribute, at least in part, to his symptoms at the time of initial presentation. The case illustrates the potential difficulties associated with establishing the diagnosis of oesophageal lymphoma. Furthermore, symptoms of weight loss and fatigue are commonly encountered in general medical patients. This case reminded us that even when a diagnosis of hyperthyroidism has been established, these symptoms may be attributable to other pathology.

Misstaging of ovarian cancer.

PubMed

McGowan, L; Lesher, L P; Norris, H J; Barnett, M

1985-04-01

The thoroughness of intraoperative evaluation of the extent of disease in 291 women with primary ovarian cancer was investigated. Notable differences among physician specialties but not types of hospitals where initial surgery was performed were observed. A review of medical record documentation revealed that 97% of the cases operated on by gynecologic oncologists had complete staging evaluations performed intraoperatively, but only 52 and 35% of cases operated on by obstetricians/gynecologists and general surgeons, respectfully, were adequately evaluated. Roughly one-half of the cases diagnosed in community hospitals and in hospitals with teaching affiliations were found to be completely studied, and 66% of those operated on in university hospitals received complete intraoperative evaluations.

Recurrent intracranial solitary fibrous tumor initially diagnosed as hemangiopericytoma.

PubMed

Hori, Emiko; Kurimoto, Masanori; Fukuda, Osamu; Takahashi, Chiaki; Nagai, Shoichi; Oya, Takeshi; Endo, Shunro

2007-01-01

We describe a case of an intracranial solitary fibrous tumor that recurred three times consecutively in an 11-year period. A 72-year-old man presented with a headache and gait disturbance. Magnetic resonance imaging (MRI) revealed a dumbbell tumor at the left tentorium. The tumor was removed but recurred. The first diagnosis was hemangiopericytoma, but all specimens showed a "patternless pattern" and few reticulin fibers, which features were not compatible with hemangiopericytoma. All tumors showed immunoreactivity for CD34 and bcl-2. These results point to a solitary fibrous tumor (SFT) and not to hemangiopericytoma. We present here a hypercellular spindle-cell tumor that was very similar to hemangiopericytoma but is better diagnosed as SFT.

Congenital intrahepatic portosystemic venous shunt presenting with paraparesis as the initial symptom.

PubMed

Torigoe, Masataka; Maeshima, Keisuke; Takeshita, Yasushi

2013-01-01

An 85-year-old woman was hospitalized with rapidly progressive paraparesis without altered consciousness, although she was not definitively diagnosed. She developed acute drowsiness and disorientation several days later. An intrahepatic portosystemic venous shunt (IPSVS) was observed on enhanced computed tomography, and hyperammonemia suggested leakage of neurotoxins from the shunt as the etiology of the patient's symptoms. Her neurological symptoms and hyperammonemia improved following transcatheter shunt embolization. We diagnosed her with hepatic myelopathy, which is a rare complication of liver cirrhosis and portosystemic venous shunts. Hepatic myelopathy resulting from a congenital IPSVS has not been previously reported. A diagnosis of hepatic myelopathy should be ruled out in diagnostically difficult cases of paraparesis.

Gastric diffuse large B-cell lymphoma cured with Helicobacter pylori eradication regardless of whether it contains features of MALT lymphoma.

PubMed

Mitsuhashi, Kei; Yamashita, Kentaro; Goto, Akira; Adachi, Takeya; Kondo, Yoshihiro; Kasai, Kiyoshi; Suzuki, Ryo; Saito, Mayuko; Arimura, Yoshiaki; Shinomura, Yasuhisa

2014-01-01

A 66-year-old patient was diagnosed with primary gastric B-cell lymphoma. The pathological findings were consistent with diffuse large B-cell lymphoma (DLBCL); however, a small area showed features of mucosa-associated lymphoid tissue (MALT) lymphoma. Biopsy specimens were referred to two other pathologists, both of whom diagnosed the case as pure DLBCL, denying the area of MALT lymphoma. As the lymphoma was limited to the submucosal layer and the patient's general condition was excellent, eradication of Helicobacter pylori was selected as the initial treatment. The lymphoma completely disappeared three months after the eradication treatment, and complete remission has been maintained for nearly two years.

Subareolar breast abscess in male patients: a report of two patients with a literature review.

PubMed

Kazama, Takashi; Tabei, Isao; Sekine, Chikako; Funamizu, Naotake; Onda, Shinji; Okamoto, Tomoyoshi; Takeyama, Hiroshi; Morikawa, Toshiaki

2017-12-19

Subareolar breast abscess (SBA) is a rare infectious disease of the breast in male patients. Herein, we report two male patients with SBA. Patient 1 was initially diagnosed with a malignant tumor based on imaging findings; ultrasonography revealed a hypoechoic mass with blood flow. Patient 2 was diagnosed with inflammatory changes to his nipple; ultrasonography findings supported the diagnosis with an irregular hypoechoic mass with blood flow. Both patients received a cytological or histological biopsy preoperatively, which showed an abscess without malignant cells. These cases serve as an important reminder to consider complete resection of the tumor including the responsible mammary duct (tumor and duct resection (TDR)) for curative therapy of SBA.

Ocular Lyme borreliosis as a rare presentation of unilateral vision loss.

PubMed

Patterson-Fortin, Jeffrey; Kohli, Anita; Suarez, Maria J; Miller, P Elliott

2016-04-25

Ocular Lyme borreliosis is a rare manifestation of Lyme disease. We describe a case of an 80-year-old woman who presented with a 1-month history of unilateral painless central vision loss. Based on a temporal artery biopsy, she was initially diagnosed with giant cell arteritis and treated with a 3-day course of high-dose intravenous steroids. A more detailed history uncovered multiple previous treatments for Lyme disease and residence in an endemic Lyme area. The patient was subsequently diagnosed with ocular Lyme borreliosis and treated with intravenous antibiotics. After 5 weeks of treatment, unilateral vision loss did not progress and optic disc oedema resolved. 2016 BMJ Publishing Group Ltd.

Cerebro-meningeal infections in HIV-infected patients: a study of 116 cases in Libreville, Gabon.

PubMed

Ondounda, Magloire; Ilozue, Chinenye; Magne, Caroline

2016-06-01

Cerebro-meningeal pathology is common in human immunodeficiency virus (HIV) infection and the aetiology is often difficult to ascertain with certainty. To describe the major suspected and identified causes of meningeal or encephalitic syndromes in HIV infection in Libreville, Gabon. A descriptive study using clinical records of patients hospitalised in the Department of Medicine in the Military Hospital of Libreville (Gabon) between January 2006 and May 2010. Clinical features were evaluated using multivariable logistic regression to evaluate association with the outcome of a clinical improvement or death. The most frequent neurological symptoms were reduced level of consciousness (54.3%), headache (55.2%), motor deficit (38.7%), and convulsions (36.2%). Cerebral toxoplasmosis represented 64.7% of diagnoses, followed by cryptococcal neuromeningitis in 12.9% of cases. Tuberculoma was diagnosed in 4 cases and lymphoma in 2 cases. In 9.5% of cases, no aetiology was determined. Toxoplasmosis treatment led to clinical improvement in 69.3% of cases with suspected cerebral toxoplasmosis. Overall mortality was 39.7%. The diagnosis of neurological conditions in HIV positive patients is difficult, particularly in a low-resource setting. A trial of treatment for toxoplasmosis should be initiated first line with all signs of neurological pathology in a patient infected with HIV.

Screening of coeliac disease in undetected adults and patients diagnosed with irritable bowel syndrome in Riyadh, Saudi Arabia.

PubMed

Al-Ajlan, Abdulrahman S

2016-07-01

The present study is to determine the prevalence and implication of coeliac disease (CD) among adult Saudis and compared to those with diagnosed irritable bowel syndrome. This prospective study was conducted among 980 adults. Out of that, 482 subjects (staff and students of Riyadh Health Science College) were designated as control cohorts for undetected coeliac disease. Furthermore, another contingent of 498 subjects diagnosed with irritable bowel syndrome (IBS) at Prince Salman Hospital and Al-Iman General Hospital also constituted a segment of the overall initial 1020 subjects. Both cases and control were tested for serological markers of coeliac disease (tissues transglutaminase (tTGAs) and endomysial autoantibody (EMAs) and were confirmed by histopathology test. All the positive for cases of coeliac disease were screened for iron deficiency anaemia, Vitamin D deficiency, and osteoporosis and weight assessment. The percentage of coeliac disease in control subjects and patients diagnosed with irritable bowel syndrome (IBS) were found to be 1.9% and 9.6% respectively, about 38% of the total coeliac disease patients are among females of middle age (20-39-years) and 16% of the males in the same age range. Whereas, 20% and 25% of all coeliac disease cases with ages of 40-59 were remarked as females and males respectively. The identical nature and overlap of symptoms of the two conditions could possibly result in misdiagnosis of coeliac diseases or over-diagnosis of irritable bowel syndrome. The findings of the study might also give considerable implications of the disease in the nutritional level which is noticeable.

Endoscopic thyroidectomy with the da Vinci robot system using the bilateral axillary breast approach (BABA) technique: our initial experience.

PubMed

Lee, Kyu Eun; Rao, Jaideepraj; Youn, Yeo-Kyu

2009-06-01

Robotic surgery is useful in areas with difficult access like the pelvis. The ideal indications for robotic surgery are still to be established. The neck area, especially the thyroid gland poses a difficult challenge for many endoscopic surgeons. Robotic surgery is useful in this area due to its excellent magnification and endowrist function. We present our initial experience with robotic endoscopic thyroidectomy using the bilateral axillary breast approach (BABA). Between March and May 2008, 15 patients diagnosed with papillary thyroid cancer underwent robotic-assisted endoscopic thyroidectomy using the BABA technique. The mean operating time was 218 minutes. There was a steady decrease in operative time from the initial case to the 15th case. The blood loss was minimal. The recurrent laryngeal nerve and parathyroid glands were identified in great detail with ease and preserved in all cases. There were no postoperative complications in any case. Robotic endoscopic thyroidectomy using the BABA technique is a feasible procedure and can be performed safely. It provides an excellent operative field view enabling easy identification of vital structures. It also gives the desired cosmetic results and minimal postoperative pain similar to conventional endoscopic thyroid surgery using the BABA technique.

Progressive Posterior Lenticonus in a Patient with Alport Syndrome

PubMed Central

Al-Mahmood, Ammar M.; Al-Swailem, Samar A.; Al-Khalaf, Abdulrahman; Al-Binali, Ghada Y.

2010-01-01

We report a rare case of Alport syndrome with progressive posterior lenticonus. A 24-year-old male presented to our tertiary eye care center with history of poor vision. At initial presentation, the patient had bilateral anterior lenticonus, posterior subcapsular cataract, and renal failure. The patient was diagnosed with Alport syndrome based on a positive family history of the disease and clinical findings. Further examination revealed progressive posterior lenticonus that was not present initially. The presence of such finding is important because it influences the surgical approach to avoid complications during cataract surgery. PMID:21180444

Bone metastases as initial presentation of hepatocellular carcinoma.

PubMed

Monteserin, Luzdivina; Mesa, Alicia; Fernandez-Garcia, Maria Soledad; Gadanon-Garcia, Arantza; Rodriguez, Manuel; Varela, María

2017-10-18

Extra-hepatic spread is present in 5% to 15% of patients with hepatocellular carcinoma (HCC) at the time of diagnosis. The most frequent sites are lung and regional lymph nodes. Here, we report 3 cases of unsuspected HCC with symptoms due to bone lesions as initial presentation. Morphological characteristics and immunohistochemistry from the examined bone were the key data for diagnosis. None of the patients had an already known chronic liver disease. Differential diagnoses with HCC upon ectopic liver disease or hepatoid adenocarcinoma were shown. Therapy with the orally active multikinase inhibitor sorafenib plus symptomatic treatment was indicated.

Febuxostat-associated eosinophilic polymyositis in marginal zone lymphoma.

PubMed

Chahine, Georges; Saleh, Khalil; Ghorra, Claude; Khoury, Nathalie; Khalife, Nadine; Fayad, Fouad

2017-03-01

Febuxostat is an orally administered selective inhibitor of xanthine oxidase approved for the treatment of gout and prevention of tumor lysis syndrome. It is a relatively safe medication. Hypersensitivity reactions associated with the use of febuxostat are quite rare with only one reported case of DRESS syndrome. Recently, two case reports of rhabdomyolysis following the initiation of febuxostat were published. We hereby present the first case of rhabdomyolysis with hypereosinophilia following the administration of febuxostat to a 50-year-old patient newly diagnosed with marginal zone lymphoma. Three weeks after the initiation of febuxostat for tumor lysis syndrome prophylaxis, the patient presented with generalized weakness, diffuse myalgia and low-grade fever. Initial studies showed creatinine kinase level of 4471, hypereosinophilia of 1900/mm 3 , and LDH of 2691. All infectious and autoimmune diseases were ruled out. TSH level was normal. Muscle biopsy showed myonecrosis in addition to an eosinophilic inflammatory infiltrate in the endomysium and perimysium. Discontinuation of febuxostat led to prompt symptom resolution and normalization of blood tests eight days later. Copyright © 2016 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

Surgery for juvenile nasopharyngeal angiofibroma with lateral extension to the infratemporal fossa.

PubMed

Yamada, Masato; Tsunoda, Atsunobu; Tokumaru, Takao; Aoyagi, Masaru; Kawano, Yoshihisa; Yano, Tomoyuki; Kishimoto, Seiji

2014-08-01

The study aimed to assess the usefulness of skull base surgery for large juvenile nasopharyngeal angiofibroma (JNA) with lateral extension to the infratemporal fossa. Eleven cases were enrolled for this study, and the mean age was 17.7 years old (range: 8-32). Six out of 11 cases underwent surgery as an initial treatment, and the other five underwent secondary surgery after initial surgery or radiotherapy in other institutions. The range of extension of tumor, feeding arteries, surgical approach, and treatment outcome were estimated. All tumors originated from the sphenopalatine foramen. Based on the imaging study, there was extension to the cavernous sinus observed in eight cases, as well as to the middle cranial fossa (8), orbit (4), and anterior cranial fossa (1). These tumors were diagnosed as Andrews' Stage IVa (3) and IVb (8). However, infiltration into the cavernous sinus was observed in one case only during surgery. Ten tumors were separated carefully from the cavernous sinus or dura and were accurately diagnosed as Stage IIIb. In all cases, the main arterial feeders of the JNAs were branches of the external carotid artery, which were embolized prior to surgery. However, 10 cases were also fed by branches of the internal carotid artery (branches of the ophthalmic artery), in which these arteries could not be embolized. Coronal skin incision (1) and a facial dismasking flap (9) were used, and in one case, wide lateral skin incision with temporary incision of the facial nerve was applied. The orbito-zygomatic approach and its modification was applied to all the cases. Fronto-lateral craniotomy was applied in four cases and lateral craniotomy in seven cases. Total resection was achieved in 10 cases and subtotal resection in one case. No mortality was noted in this series. Temporal trismus was observed in all cases which subsided gradually. Cheek numbness and facial palsy were observed in three and two cases, respectively. Coupled with craniotomy, tumor removal was successfully carried out in 11 patients with JNAs, which showed large lateral extension. Our surgical strategy is a safe and effective approach for the removal of JNAs with infratemporal fossa extension. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

The South African Tuberculosis Care Cascade: Estimated Losses and Methodological Challenges

PubMed Central

Naidoo, Pren; Theron, Grant; Rangaka, Molebogeng X; Chihota, Violet N; Vaughan, Louise; Brey, Zameer O; Pillay, Yogan

2017-01-01

Abstract Background While tuberculosis incidence and mortality are declining in South Africa, meeting the goals of the End TB Strategy requires an invigorated programmatic response informed by accurate data. Enumerating the losses at each step in the care cascade enables appropriate targeting of interventions and resources. Methods We estimated the tuberculosis burden; the number and proportion of individuals with tuberculosis who accessed tests, had tuberculosis diagnosed, initiated treatment, and successfully completed treatment for all tuberculosis cases, for those with drug-susceptible tuberculosis (including human immunodeficiency virus (HIV)–coinfected cases) and rifampicin-resistant tuberculosis. Estimates were derived from national electronic tuberculosis register data, laboratory data, and published studies. Results The overall tuberculosis burden was estimated to be 532005 cases (range, 333760–764480 cases), with successful completion of treatment in 53% of cases. Losses occurred at multiple steps: 5% at test access, 13% at diagnosis, 12% at treatment initiation, and 17% at successful treatment completion. Overall losses were similar among all drug-susceptible cases and those with HIV coinfection (54% and 52%, respectively, successfully completed treatment). Losses were substantially higher among rifampicin- resistant cases, with only 22% successfully completing treatment. Conclusion Although the vast majority of individuals with tuberculosis engaged the public health system, just over half were successfully treated. Urgent efforts are required to improve implementation of existing policies and protocols to close gaps in tuberculosis diagnosis, treatment initiation, and successful treatment completion. PMID:29117342

[Aplastic anaemia associated with pregnancy].

PubMed

Bozhinova, S; Kirovakov, Zl; Porozhanova, K; Kostova, S; Bozhinov, P

2012-01-01

Aplastic anaemia is rear disease caused by destruction of pluripotent stem cells in bone marrow. Pregnancy is one of the main factor that lead to immunosuppression. During pregnancy aplastic anaemia could be life-threatening for both mother and child, because of the variety of complications like bleeding and infections. We introduce the first case of pregnant woman with aplastic anaemia in Bulgaria. The woman was diagnosed in 12-13 gestational week. All biometric characteristics of the foetus were normal. The patient was consulted with oncohaematologists, pediatricians, specialists of Obstetrics and Gynaecology, and intensivists. Methylprednisolone, antibiotics, packed cells and platelet transfusions were initiated. However, the moment for interruption of the pregnancy was missed (first trimester). The woman developed a fever and vomited bloody material. Despite the optimal supportive treatment, the patient died. The pathoanatomy diagnose is Aplastic anaemia, induced by the pregnancy. From our experience with that case and other references from the literature we conclude that all pregnant woman with aplastic anaemia should interrupt their pregnancy during first trimester. In those patients who are diagnosed at later terms of pregnancy very supportive infusions and immunosuppressive therapy should be made, including antithymocyte globulin and/or cyclosporine. Women with no improvement from that therapy should achieve a bone-marrow transplantation.

Progression of undiagnosed cutaneous lymphoma after anti-tumor necrosis factor-alpha therapy.

PubMed

Martinez-Escala, Maria Estela; Posligua, Alba L; Wickless, Heather; Rutherford, Audrey; Sable, Kimberly A; Rubio-Gonzalez, Belen; Zhou, Xiaolong A; Kaplan, Jason B; Pro, Barbara; Choi, Jaehyuk; Querfeld, Christiane; Rosen, Steven T; Guitart, Joan

2018-06-01

Cutaneous lymphoma diagnosed after anti-tumor necrosis factor-α therapy (anti-TNF-α) has been reported in the literature, yet a clear link between both events remains elusive. To review our experience with cutaneous lymphoma diagnosed during or after the use of anti-TNF-α therapies. This is a multicenter retrospective study and a literature review. A total of 22 cases, including 20 cutaneous T-cell lymphomas (CTCLs) and 2 cutaneous B-cell lymphomas, were identified. In the CTCL group, 75% of the patients received an anti-TNF-α agent for a presumed inflammatory skin condition. Mycosis fungoides and Sézary syndrome were the most common subtypes of CTCL diagnosed. Advanced disease (stage IIB to IVA) was commonly seen at time of diagnosis and required aggressive therapy, including stem cell transplant in 3 patients; 2 patients in whom cutaneous B-cell lymphomas was diagnosed had an indolent course. A total of 31 cases were gathered from a literature search. This is a retrospective study. Our findings suggest that the disease of most of the identified patients was misdiagnosed as psoriasis or eczema; therefore, a comprehensive morphologic and molecular review of skin biopsy specimens and peripheral blood samples should be considered before initiation of anti-TNF-α therapy in patients with poorly defined dermatitis or atypical presentations of psoriasis. Copyright © 2018 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Basal cell carcinomas in a tertiary referral centre: a systematic analysis.

PubMed

Dreier, J; Cheng, P F; Bogdan Alleman, I; Gugger, A; Hafner, J; Tschopp, A; Goldinger, S M; Levesque, M P; Dummer, R

2014-11-01

Basal cell carcinoma (BCC) is the most frequent skin cancer with increasing incidence and generally high cure rates. BCC can be quite aggressive and is difficult to treat. To investigate BCCs with a focus on histological subtypes, treatment procedures and correlation to clinical progress to collect further information on complex BCC cases. In this retrospective single-centre analysis the dermatopathology database, a network of cooperating dermatological surgeons, was queried for BCC cases between January 2007 and December 2011. Of 14,423 samples from a total of 9652 patients initially identified, 2938 patients were treated at the University Hospital Zurich and had corresponding local electronic patient records. Patients (n = 2938) (with 4769 diagnoses, 2006 re-excisions with 1180 microscopically controlled surgeries) were classified based on severity estimations into 2240 simple, 640 moderate, and 58 severe cases, including one BCC-treatment-associated death and 11 patients with subsequent participation in a clinical trial. In moderate and severe cases (n = 698), there were significantly higher rates of unique histological diagnoses (n = 2·5; P < 0·0001), higher association with basosquamous carcinoma [odds ratio (OR) 3·6; P < 0·0001] and sclerosing BCC (OR 2·48; P < 0·0001). Of the patients with basosquamous carcinoma 82·6% had a previous history of BCC. This is the first study that analyses the frequency of complicated BCCs in a tertiary referral centre. There were 6·6% moderate (640 of 9652) and 0·6% (58 of 9652) severe cases. We found significantly more varying histological diagnoses and significant association with aggressive subtypes in moderate and severe cases. These patients might especially benefit from new therapeutic options. © 2014 British Association of Dermatologists.

Encopresis: long-term clinical outcome of 67 cases.

PubMed

Unal, Fatih; Pehlivantürk, Berna

2005-01-01

In this study we attempted to investigate the outcome of encopresis and to determine factors affecting prognosis. The sample consisted of 52 boys (77.6%) and 15 girls (22.4%) diagnosed as encopresis according to DSM IV diagnostic criteria. These patients were evaluated six years after their initial examination in the Department of Child Psychiatry. Clinical and demographical data were compared between initial and follow-up interviews and between patients with complete recovery and others. Fifty-six patients (83.6%) recovered completely and 11 (16.4%) continued to be encopretic after six years. Good school performance (p<0.005), high levels of parental education (p<0.005) and absence of constipation (p<0.05) were associated with favorable outcome. In addition, secondary encopretics who were diagnosed within a year from onset of the symptom recovered significantly earlier (p<0.001). Encopresis is a chronic disorder and complete recovery rates tend to increase with time. Families and primary health care providers should be informed about the treatment possibilities of encopresis for early intervention.

Ulcerative colitis associated with leukocytoclastic vasculitis of the skin.

PubMed

Tripodi Cutrì, F; Salerno, R; Lo Schiavo, A; Gravina, A G; Romano, M; Ruocco, E

2009-07-01

Ulcerative colitis may be associated with a number of skin lesions such as erythema nodosum and pyoderma gangrenosum. We here describe an unusual case of a 33-year-old-caucasian male with ulcerative colitis and skin lesions diagnosed as leukocytoclastic vasculitis. An initial treatment with oral deflazacort led to little benefit, while treatment with oral mesalazine caused remission of the skin and intestinal manifestations in 2 weeks.

[Pelvic nodules in a young woman: All is not endometriosis!

PubMed

Buisson, G; Maissiat, E; Dubernard, G; Boussel, L

2017-02-01

Splenosis is a pathology resulting from a rupture of the spleen due to a trauma or a surgery. We report the case of a patient presenting with a splenosis, initially diagnosed as endometriosis-related pelvic nodules, the most frequent cause of pelvic nodules in women. We will describe the imaging strategy that led to the final diagnosis of splenosis. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Skull infarction in a patient with malignant fibrous histiocytoma.

PubMed

Nagle, C E; Morayati, S J; LeDuc, M A

1987-09-01

The authors describe a case of a skull infarction initially suspected to be an isolated, remote metastasis in a patient diagnosed with soft tissue malignant fibrous histiocytoma. Osseous malignant fibrous histiocytoma has been reported to occur within a bone infarction but the presence of a benign bone infarction remote from a soft tissue malignant fibrous histiocytoma has not been reported previously. Bone infarctions and malignant fibrous histiocytomas are briefly reviewed.

Acute venous thrombosis as complication and clue to diagnose a SAPHO syndrome case. A case report.

PubMed

Rosero, A; Ruano, R; Martin, M; Hidalgo, C; Garcia-Talavera, J

2013-01-01

This report concerns a male adult admitted for sternal and left arm pain, who was diagnosed and treated for acute deep venous thrombosis in the left subclavian and axillary veins. X-ray and a hybrid single photon emission tomography and computed tomography (SPECT-CT) scintigraphy scan revealed high intensity uptake in both sternoclavicular joints, which corresponded to hyperostosis, thereby suggesting a SAPHO syndrome. Upon reviewing the patient's medical history, we found dermatological pustulosis disease and an intermittent sternal chest pain untreated since 10 years ago. In the biochemical study we found erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) elevation, hyperglobulinemia, and mild anaemia. Initial treatment included nonsteroidal anti-inflammatory drugs (NSAIDs) with low response, which then changed to methotrexate, sulfasalazine, and prednisone. The patient's pain was controlled almost completely in 10 months. A control bone scan revealed a marked decrease in intensity of bone deposits according to clinical response. To our knowledge, there are only a few cases of SAPHO and thrombosis and none are followed up with a bone SPECT-CT scan.

Thyroid nodule as a first manifestation of Hodgkin lymphoma–report of two cases and literature review

PubMed Central

2013-01-01

Abstract Lymphomas account for less than 5% of thyroid malignant lesions. Vast majority of them are B-cell non-Hodgkin lymphomas (NHL), while Hodgkin lymphoma (HL) is extremely rare. Here we present two cases of HL, at baseline manifesting as a thyroid lesion. First patient, 29-year-old pregnant female, initially suspected for metastatic medullary thyroid cancer, was eventually diagnosed with mixed cellularity type of thyroid HL. Second patient, 22-year-old woman with suspicion of advanced thyroid cancer, was in the end diagnosed with an extra-lymphatic classical HL of the thyroid. In both cases, despite repeated fine-needle aspiration biopsy, cytological examination gave inconclusive or misleading results. On histopathological examination, thyroid tumor cells were positive for CD15 and CD30 antigen, which is typical for Reed-Sternberg cells. In the report authors also discuss difficulties in management as well as potential importance of novel methods such as FISH, PCR and other molecular techniques in diagnostics of thyroid lymphomas. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/2896947559559648 PMID:23856094

Aspiration cytology of extramammary tumors metastatic to the breast.

PubMed

Deshpande, A H; Munshi, M M; Lele, V R; Bobhate, S K

1999-11-01

This study was carried out to examine the cytomorphologic features of metastatic breast tumors and to assess the utility of fine-needle aspiration cytology (FNAC) in diagnosing these tumors. The study group comprised five females and one male, all presenting with a breast mass. Their ages ranged between 35 and 65 years. FNAC of the breast mass was done in all cases. Three of the cases were previously diagnosed as squamous cell carcinoma (SCC) of the cervix, mucinous cystadenocarcinoma (MCA) of the ovary, and melanoma. Three cases presented initially with a breast mass. These included melanoma, non-Hodgkin's lymphoma (NHL), and plasmacytoma. The diagnosis of NHL was confirmed on histology. The patient with plasmacytoma presented primarily with a breast lump but subsequently developed multiple myeloma, and in one case of melanoma the primary tumor was detected after breast metastases. Preoperative FNAC of extramammary tumors metastatic to the breast is invaluable because the management of the patient differs entirely from that of a primary neoplasm. An accurate diagnosis can be made with the help of clinical and radiological correlation. If available, a perusal of previous history and biopsy material may prove useful. Copyright 1999 Wiley-Liss, Inc.

[Factitious Disorder in Obstetrics: Case Report].

PubMed

Molano, Juan Carlos; Cortés, Natalia; Noguera, Efraín

2012-06-01

Munchhausen's syndrome is the best-studied type of factitious disorder with predominantly physical signs and symptoms. However, its clinical presentation during pregnancy is rare and literature on the subject is scarce. To present a case of factitious disorder during pregnancy. Review and analysis of a clinical case. The case of a 30-year-old woman six weeks pregnant who consults on multiple occasions with emesis and abdominal pain is discussed. Various different diagnoses were considered and pathologies such as acute intermittent porphyria, narcotic bowel syndrome, abdominal epilepsy, and esophageal spasm were discarded. The patient expressed her desire to terminate the pregnancy at week 21. The pregnancy was terminated after a medical panel concluded that there were both organic and mental conditions that placed the patient's health at risk. Factitious disorders are very complex and extremely challenging to the clinician especially during the initial phases. They are seldom suspected and rarely diagnosed even in hospital settings. Therefore it is of utmost importance to educate healthcare professionals in the detection of this disorder to ensure proper management and treatment. Copyright © 2012 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

The Role of Surgery in the Clinical Management of Primary Gastrointestinal Non-Hodgkin's Lymphoma.

PubMed

MacQueen, Ian T; Shannon, Evan M; Dawes, Aaron J; Ostrzega, Nora; Russell, Marcia M; Maggard-Gibbons, Melinda

2015-10-01

Primary gastrointestinal non-Hodgkin's lymphoma (PGINHL) is a heterogeneous family of tumors, with treatment modalities including chemotherapy, surgery, and radiotherapy. Because the role of surgery in PGINHL remains disputed, this study aims to assess the impact of operative resection on survival. We used a pathology database to identify all cases of PGINHL diagnosed at a single academic-affiliated medical center from 1988 to 2013. Demographic and clinical data were abstracted from the medical record. We summarized the clinical courses of patients with PGINHL and then performed a survival analysis to compare overall and disease-free survival, stratified by demographic and clinical variables. We identified 33 patients diagnosed with PGINHL during the study period. Of 29 who subsequently received treatment at the institution, 15 initially underwent chemotherapy, 10 underwent surgical resection, and 4 underwent surgery for other reasons such as diagnosis without resection or management of disease complications. Three patients suffered surgical complications and two of these patients died. We found no difference in overall survival between patients receiving surgical resection and patients managed initially with chemotherapy. This case series supports a continued role for surgical resection in the management of patients with PGINHL, though anticipated benefits should be weighed against the risk of complications.

Appropriateness of early management of newly diagnosed Crohn's disease in a European population-based cohort.

PubMed

Juillerat, Pascal; Pittet, Valérie; Mottet, Christian; Felley, Christian; Gonvers, Jean-Jacques; Vader, John-Paul; Burnand, Bernard; Froehlich, Florian; Wolters, Frank L; Stockbrügger, Reinhold W; Michetti, Pierre

2010-12-01

The European Panel on the Appropriateness of Crohn's disease Therapy (EPACT) has developed appropriateness criteria. We have applied these criteria retrospectively to the population-based inception cohort of Crohn's disease (CD) patients of the European Collaborative Study Group on Inflammatory Bowel Disease (EC-IBD). A total of 426 diagnosed CD patients from 13 European centers were enrolled at the time of diagnosis (first flare, naive patients). We used the EPACT definitions to identify 247 patients with active luminal CD. We then assessed the appropriateness of the initial drug prescription according to the EPACT criteria. Among the cohort patients 163 suffered from mild-to-moderate CD and 84 from severe CD. Among the mild-to-moderate disease group, 96 patients (59%) received an appropriate treatment, whereas for 66 patients (40%) the treatment was uncertain and in one case (1%) inappropriate. Among the severe disease group, 86% were treated medically and 14% required surgery. 59 (70%) were appropriately treated, whereas for one patient (1%) the procedure was considered uncertain and for 24 patients (29%) inappropriate. Initial treatment was appropriate in the majority of cases for non-complicated luminal CD. Inappropriate or uncertain treatment was given in a significant minority of patients, with an increased potential risk of adverse events.

Exacerbation of autoimmune hemolytic anemia induced by the first dose of programmed death-1 inhibitor pembrolizumab: a case report.

PubMed

Ogawa, Kenta; Ito, Jiro; Fujimoto, Daichi; Morita, Mari; Yoshizumi, Yuko; Ariyoshi, Koichi; Tomii, Keisuke; Katakami, Nobuyuki

2018-06-01

Immune checkpoint inhibitors (ICIs) have demonstrated efficacy against various types of cancers. In addition to immune-related adverse events (irAEs) induced by ICIs, exacerbation of baseline autoimmune disease has been occasionally reported. This is the first report of autoimmune hemolytic anemia (AIHA) exacerbated by pembrolizumab. An 82-year-old Japanese male was diagnosed with lung adenocarcinoma 2 years ago. The patient had chronic anemia with positive direct and indirect Coombs test prior to initiating pembrolizumab therapy at a nearby hospital. However, a definitive diagnosis of AIHA was not made at that time. Seventeen days after the first dose of pembrolizumab, the patient was admitted to the Kobe City Medical Center General Hospital with severe hemolytic anemia (Hb 3.6 g/dL). After thorough examinations including bone marrow biopsy, the patient was diagnosed with pre-existing AIHA exacerbated by pembrolizumab therapy. Two weeks after treatment with prednisone, the levels of hemoglobin became stable with the reduced frequency of blood transfusion and improvements of hemolytic findings on blood tests and the patient was discharged from the hospital. This case report highlighted the importance of determining the patient's pre-existing autoimmune status associated with chronic anemia prior to initiating treatment with ICIs.

[Extraoseus Ewings Sarcoma, Primary Affection of Uterine Cervix--Case Report].

PubMed

Bílek, O; Holánek, M; Zvaríková, M; Fabian, P; Robešová, B; Procházková, M; Adámková Krákorová, D

2015-01-01

Ewing's sarcoma is usually diagnosed in adolescents and young adults, peak of incidence is around 15 years of age. Primary localization is mostly in the skeleton of long bones and chest wall. Primary extraosseous involvement rarely occurs, incidence increases with age. We present a case report of a 57-year-old patient with locally advanced tumors of the cervix, clinical stage IIB. Due to histological and molecular genetic examination revealing EWS -ERG fusion gene, Ewing's sarcoma was diagnosed. CT revealed pathological pelvic lymphadenopathy and multiple pulmonary bilateral methastases, scintigraphy did not prove any affection of skeleton. The patient underwent a two-stage intensive chemotherapy regimens VIDE (vincristine, ifosfamide, doxorubicin, etoposide) and VAI (vincristine, actinomycin D, ifosfamide). During the second phase, concomitant radiotherapy of pelvis was aplied. According to PET/CT, complete remission was achieved. Whole-lung irradiation was applied in consolidation of the result. Primary Ewing's sarcoma of the cervix is an extremely rare disease. To our knowledge, only 12 cases was presented until this time. The average age at time of dia-gnosis was 35 years. Unlike the previous reports, we initially diagnosed distant metastases. The treatment was led according to the protocol Ewing 2008 designed for primary skeletal Ewing's sarcoma. Currently, 18 months after the therapy, the patient is without signs of disease. However, long-term follow-up is necessary.

Misdiagnosis of cerebellar hemorrhage - features of 'pseudo-gastroenteritis' clinical presentations to the ED and primary care.

PubMed

Lee, Seung-Han; Stanton, Victoria; Rothman, Richard E; Crain, Barbara; Wityk, Robert; Wang, Zheyu; Newman-Toker, David E

2017-03-01

Early-stage cerebellar hemorrhage can present with nausea or vomiting absent other neurological symptoms or signs, potentially leading to an incorrect diagnosis of gastroenteritis. We sought to determine the frequency of gastroenteritis-like presentations and delayed or missed diagnoses among patients with spontaneous cerebellar hemorrhage. This is a retrospective, case-control analysis of atraumatic, primary cerebellar hemorrhages derived from a systematic search of surgical pathology and autopsy databases at two large urban, academic medical centers from 1984 to 2006. Hospital visit and clinical symptom data were abstracted from electronic and paper medical records for included patients. Delayed or missed diagnoses were defined as those at least one previous visit for relevant clinical symptoms in the 7 days prior to the correct diagnosis being confirmed. Among 254 records captured by our search filter, we identified 35 cases of pathologically proven primary cerebellar hemorrhage. Four patients (11%) were misdiagnosed initially - three with "gastroenteritis" and one with "hypertension". In this small sample, misdiagnosed patients presented more often with normal mental state (100% vs. 35%, p=0.07) and nausea/vomiting (100% vs. 58%, p=0.22). Although patients deteriorated clinically after the initial misdiagnosis, and potentially dangerous diagnostic tests and treatment strategies were instituted as a result of misdiagnosis, none of the misdiagnosed patients died or suffered major permanent harms due to diagnostic delay. Our study is limited by the small number of identified cases. Nevertheless, it appears that patients with cerebellar hemorrhages can present with relatively unimpressive clinical findings without obvious neurological manifestations. Such individuals are sometimes misdiagnosed with gastroenteritis or other benign disorders initially, possibly when neurologic examination, particularly gait testing, is omitted or abridged. A careful search for subtle cerebellar signs, including dysarthria, limb ataxia, nystagmus or tandem gait instability, absent in true gastroenteritis cases, could potentially reduce misdiagnosis.

Corticobasal degeneration initially developing motor versus non-motor symptoms: a comparative clinicopathological study.

PubMed

Ikeda, Chikako; Yokota, Osamu; Nagao, Shigeto; Ishizu, Hideki; Morisada, Yumi; Terada, Seishi; Nakashima, Yoshihiko; Akiyama, Haruhiko; Uchitomi, Yosuke

2014-09-01

Clinical presentations of pathologically confirmed corticobasal degeneration (CBD) vary, and the heterogeneity makes its clinical diagnosis difficult, especially when a patient lacks any motor disturbance in the early stage. We compared clinical and pathological features of four pathologically confirmed CBD cases that initially developed non-motor symptoms, including behavioural and psychiatric symptoms but without motor disturbance (CBD-NM), and five CBD cases that initially developed parkinsonism and/or falls (CBD-M). The age range at death for the CBD-NM and CBD-M subjects (58-85 years vs 45-67 years) and the range of disease duration (2-18 years vs 2-6 years) did not significantly differ between the groups. Prominent symptoms in the early stage of CBD-NM cases included self-centred behaviours such as frontotemporal dementia (n = 1), apathy with and without auditory hallucination (n = 2), and aggressive behaviours with delusion and visual hallucination (n = 1). Among the four CBD-NM cases, only one developed asymmetric motor disturbance, and two could walk without support throughout the course. Final clinical diagnoses of the CBD-NM cases were frontotemporal dementia (n = 2), senile psychosis with delirium (n = 1), and schizophrenia (n = 1). Neuronal loss was significantly less severe in the subthalamic nucleus and substantia nigra in the CBD-NM cases than in the CBD-M cases. The severity of tau pathology in all regions examined was comparable in the two groups. CBD cases that initially develop psychiatric and behavioural changes without motor symptoms may have less severe degenerative changes in the subthalamic nucleus and substantia nigra, and some CBD cases can lack motor disturbance not only in the early stage but also in the last stage of the course. © 2014 The Authors. Psychogeriatrics © 2014 Japanese Psychogeriatric Society.

THE MANAGEMENT OF CHYLOTHORAX

PubMed Central

Connolly, John E.; Smith, John W.

1959-01-01

Chylothorax is readily diagnosed from the characteristic qualities of the effusion. Treatment should initially be conservative, consisting of multiple aspirations followed, if necessary, by suction drainage. Approximately half of the patients will not respond to these measures, and direct ligation and division of the duct is necessary for cure. This operation is most readily carried out through the right chest, the thoracic duct being ligated just above the diaphragm. In cases in which the duct is surrounded by tumor, radiotherapy to the mediastinum is often successful in controlling the reaccumulation of chyle, but irradiation is generally not recommended until after a tissue diagnosis has been made by thoracotomy. Nutritional problems are often concomitants of chylothorax. ImagesFigure 1 (Case 1).Figure 2 (Case 1).Figure 3 (Case 2).Figure 4 (Case 2).Figure 5 (Case 3).Figure 6 (Case 3). PMID:13671361

Natural history and outcome of aortic stenosis diagnosed prenatally.

PubMed Central

Simpson, J. M.; Sharland, G. K.

1997-01-01

OBJECTIVE: To document the growth of the left heart structures and outcome of fetuses with aortic stenosis. DESIGN: Retrospective echocardiographic and clinical study. SETTING: Tertiary centre for fetal cardiology. PATIENTS: 27 consecutive fetuses with aortic stenosis. MAIN OUTCOME MEASURES: Survival of affected fetuses. Measurement of left ventricular end diastolic volume (LVEDV), aortic root diameter, and ejection fraction. RESULTS: Before 25 weeks' gestation, the LVEDV was normal or increased in all cases. In six of eight fetuses studied sequentially, the LVEDV fell across normal centiles. Initial ejection fraction was reduced in 23 fetuses (88%). Before 28 weeks' gestation, the aortic root was normal in all but one case, but after 29 weeks, 11 of 13 fetuses had values below the 50th centile. In two fetuses prenatal aortic valvoplasty was attempted, 10 babies had postnatal interventions, and there were six survivors. Biventricular repair was attempted in eight cases, of whom five survived. A first stage Norwood operation was performed in three babies, of whom one survived. The four fetuses with the highest aortic root z scores had successful biventricular repair. The two fetuses with initially normal ejection fractions survived. Successful biventricular repair was achieved even where the LVEDV was below the 5th centile. CONCLUSIONS: In aortic stenosis diagnosed prenatally, failure of growth of the left ventricle and aortic root often occurs. The outcome of affected fetuses is better than previously reported. Prenatal echocardiography may assist selection of suitable candidates for biventricular versus Norwood repair. Images PMID:9093035

Prognosis of adult-onset idiopathic bile acid malabsorption.

PubMed

Rössel, P; Sortsøe Jensen, H; Qvist, P; Arveschoug, A

1999-06-01

From 1986 to 1993, 150 patients were investigated with the 75Se-homocholic acid taurine (SeHCAT) test as a late step in the investigation of chronic diarrhoea. On basis of low SeHCAT values and response to cholestyramine treatment, 33 patients were initially classified as having idiopathic bile acid malabsorption (IBAM). The aim was to describe the long-term clinical course of the disease and to assess the reliability of the SeHCAT test in diagnosing IBAM. The methods included 1) clinical follow-up with patient interview combined with information from medical records and 2) repeated SeHCAT test. The diagnosis of IBAM had to be revised in three cases (inflammatory bowel disease in two patients, Clostridium difficile infection in one). Six patients were lost to follow-up and a further four patients were excluded from re-examination either because of old age (>80 years) or bowel resection, leaving 20 patients for re-examination, of which 16 completed both clinical follow-up and a new SeHCAT test. The median duration of symptoms before initial SeHCAT test was 2.5 (1-30) years. In 13 of 16 patients symptoms persisted, and SeHCAT values remained low and almost identical to the initial value after a median observation time of 88 (51-113) months. Despite initial response to treatment with cholestyramine, six patients had to discontinue treatment because of adverse effects or other compliance problems. In three patients the SeHCAT value showed a considerable increase, and bowel function had correspondingly normalized in these cases. The study confirms the reliability of the SeHCAT test in diagnosing IBAM. Despite adult onset of symptoms, only a few patients improve after several years' observation. Treatment with cholestyramine is generally effective but not always tolerated.

Nerve Damage in Young Patients with Leprosy Diagnosed in an Endemic Area of the Brazilian Amazon: A Cross-Sectional Study.

PubMed

Bandeira, Sabrina Sampaio; Pires, Carla Avelar; Quaresma, Juarez Antonio Simões

2017-06-01

To describe nerve damage and its association with clinical and epidemiologic characteristics in young patients with leprosy diagnosed in an endemic area of the Brazilian Amazon. All 45 patients with leprosy younger than 15 years of age and diagnosed at a health referral unit in northern Brazil were invited to participate in a cross-sectional, descriptive, analytical study. Subjects were submitted to a templated simple neurologic examination of the peripheral nerves and answered a structured questionnaire. Of 41 cases, referral was the mode of detection in 33 participants (80.5%); 19 (46.3%) had been seen by 3 or more physicians to obtain a diagnosis, and 26 (63.4%) had received other diagnoses. The interval between the onset of symptoms and diagnosis was more than 1 year in 30 cases (73.2%). Borderline leprosy was the predominant clinical form (48.8%); 63.4% of the participants had multibacillary leprosy, 31.7% had nerve damage, and 17.1% exhibited disabilities. The following variables showed a statistically significant association (P???.05) with nerve damage at diagnosis: home visit by the community health worker, number of doctors seen, number of skin lesions (>5), and lesions along the path of nerve trunks. Centralized healthcare, a low frequency of home visits by community health workers, and the difficulty in diagnosing leprosy in children are factors that contribute to late treatment initiation and an increased risk of peripheral nerve damage. In addition, multiple skin lesions and lesions along the path of nerve trunks require rigorous monitoring. Copyright © 2017 Elsevier Inc. All rights reserved.

BCG protects toddlers during a tuberculosis outbreak.

PubMed

Gaensbauer, J T; Vandaleur, M; O'Neil, M; Altaf, A; Ní Chróinín, M

2009-05-01

In 2007, an outbreak of tuberculosis occurred in a toddler population attending two child care centres in Cork, Ireland. Of 268 children exposed, 18 were eventually diagnosed with active tuberculosis. We present the initial clinical and radiographic characteristics of the active disease group. Mantoux testing was positive in only 66% of cases. All cases were either pulmonary or involved hilar adenopathy on chest radiograph; there were no cases of disseminated disease or meningitis. 24% of the exposed children had been previously vaccinated with BCG, and no case of active disease was found in this group (p = 0.016), suggesting a profound protective effect of BCG in this population. Our experience provides evidence supporting a protective effect of BCG against pulmonary disease in young children.

[Metachromatic Leukodystrophy. Case Presentation].

PubMed

Espejo, Lina María; de la Espriella, Ricardo; Hernández, José Fernando

Metachromatic leukodystrophy (MLD) is a rare demyelinating disease (prevalence 1:40 000), also called arylsulfatase A deficiency (ARS-A), which may present with neurological and psychiatric symptoms. Clinical assessment may be difficult, due to unspecific signs and symptoms. A case is presented of a 16 year-old female patient seen in psychiatry due to behavioural changes, psychosis, and with impaired overall performance. She was initially diagnosed with schizophrenia, but the Nuclear Magnetic Resonance (NMR) scan and laboratory tests lead to the diagnosis of MLD. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

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.

Improved pathologic teeth migration following gingivectomy in a case of idiopathic gingival fibromatosis.

PubMed

Seki, Keisuke; Sato, Shuichi; Asano, Yukhiro; Akutagawa, Hideyasu; Ito, Koichi

2010-01-01

A case is reported of a 20-year-old woman with generalized severe gingival overgrowth covering almost all of the teeth with diastemata, diagnosed as idiopathic gingival fibromatosis. After initial therapy, the patient underwent surgery consisting of a full-mouth internal beveled gingivectomy. Postoperatively, the maxillary anterior teeth spontaneously moved to almost optimal positions. Removing the cause by gingivectomy can lead to spontaneous correction of the pathologic tooth migration. With supportive periodontal treatment, the patient showed no recurrence of gingival enlargement or repositioning of the teeth at the 5-year follow-up.

Small cell lung cancer presenting as dermatomyositis: mistaken for single connective tissue disease.

PubMed

Chao, Guanqun; Fang, Lizheng; Lu, Chongrong; Chen, Zhouwen

2012-06-01

Dermatomyositis (DM) is well-known to be associated with several types of malignancy. This case emphasizes the importance of a thorough examination for an underlying cancer, in patients with the symptoms of dermatomyositis. We report the case of a 62-year-old Chinese man who presented with a two-month history of edema of face and neck, together with erythema of the eyelids diagnosed of small cell lung cancer. Initially, it was thought to be single connective tissue disease such as DM. This study highlights the importance of a thorough physical examination when visiting a patient.

Atypical presentation of systemic lupus erythematosus: parotitis and secondary Sjogren's syndrome. Case report.

PubMed

Criscov, Geanina Irina; Rugină, Aurica; Stana, A B; Azoicăi, Alice Nicoleta; Moraru, Eovelina

2014-01-01

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by auto antibodies directed against self-antigens, immune complex formation and immune deregulations and may affect joints, skin, kidneys, heart, lungs, nervous system, and immune system. The onset can be variable and the symptoms can occur for many years. Parotitis as the initial manifestation of systemic lupus erythematosus (SLE) is a rare condition and can be associated with Sjogren's syndrome. In this article we present the case of a young patient who was diagnosed with Sjogren's syndrome retrospectively, after she met the criteria for SLE.

Fat Embolism Syndrome: A Case Report and Review Literature.

PubMed

Uransilp, Nattaphol; Muengtaweepongsa, Sombat; Chanalithichai, Nuttawut; Tammachote, Nattapol

2018-01-01

Fat embolism syndrome (FES) is a life-threatening complication in patients with orthopedic trauma, especially long bone fractures. The diagnosis of fat embolism is made by clinical features alone with no specific laboratory findings. FES has no specific treatment and requires supportive care, although it can be prevented by early fixation of bone fractures. Here, we report a case of FES in a patient with right femoral neck fracture, which was diagnosed initially by Gurd's criteria and subsequently confirmed by typical appearances on magnetic resonance imaging (MRI) of the brain. The patient received supportive management and a short course of intravenous methylprednisolone.

Sinus barotrauma--late diagnosis and treatment with computer-aided endoscopic surgery.

PubMed

Larsen, Anders Schermacher; Buchwald, Christian; Vesterhauge, Søren

2003-02-01

Sinus barotrauma is usually easy to diagnose, and treatment achieves good results. We present two severe cases where delayed diagnosis caused significant morbidity. The signs and symptoms were atypical and neither the patients themselves, nor the initial examiners recognized that the onset of symptoms coincided with descent in a commercial airliner. CT and MRI scans of the brain were normal, but in both cases showed opafication of the sphenoid sinuses, which lead to the correct diagnosis. Subsequent surgical intervention consisting of endoscopic computer-aided surgery showed blood and petechia in the affected sinuses. This procedure provided immediate relief.

The tropics and the crime they did not commit.

PubMed

Goorhuis, A; van Thiel, P P A M; Middeldorp, S; van Eck, B L F; Grobusch, M P

2013-02-01

Travellers to tropical destinations who seek medical attention after returning to their home country often present with fever, frequently as a result of an imported infectious disease. For this reason, clinicians initially focus on an infectious cause when a clear relationship in time exists between travel and disease onset. We present a case of a patient, who developed fever 2 weeks after his return from Ghana and who was finally diagnosed with an auto-immune disease: arteritis of the large arteries. This case illustrates that broad differential diagnostic thinking is paramount in the assessment of returned travellers.

A Case of Recurrent Solid Pseudopapillary Tumor of the Pancreas with Involvement of the Spleen and Kidney

PubMed Central

Park, Sang Eun; Park, Nam Sook; Chun, Jae Min; Park, Nam Whan; Yang, Young Joon; Yun, Gak Won; Lee, Hyo Jin; Yun, Hwan Jung; Jo, Deog Yeon; Song, Kyu Sang

2006-01-01

Solid pseudopapillary tumor of the pancreas (SPTP) is a rare primary pancreatic tumor of an unknown etiology that is usually diagnosed in adolescent girls and young women. Most SPTPs are considered to be benign and only rarely metastasize. We report here on a 27-year old woman with recurrent SPTP with involvement of both the spleen and left kidney at the time of the initial diagnosis, and with aggressive behavior. In July 1995, she was admitted with abdominal discomfort and mass. She underwent exploratory laparotomy with distal pancrea tectomy, left nephrectomy and splenectomy, and was diagnosed with SPTP with invasion to both the spleen and left kidney. In June 2001, she again presented with abdominal pain and was diagnosed as having recurrence of the tumor. She underwent mass excision and omentectomy. Then she was lost to follow-up. In November 2005, she presented once again with an abdominal mass and was diagnosed with recurred SPTP, which formed a huge intraperitoneal mass with peritoneal seeding and the tumor showed multiple metastases in the liver. She is currently being treated conservatively. PMID:19771270

Acute acalculous cholecystitis in systemic lupus erythematosus: a rare initial manifestation.

PubMed

Manuel, Valdano; Pedro, Gertrudes Maria; Cordeiro, Lemuel Bornelli; de Miranda, Sandra Maria da Rocha Neto

2016-01-01

Acute acalculous cholecystitis is a very rare gastrointestinal manifestation in systemic lupus erythematosus and becomes rarer as an initial manifestation. There are only two cases reported. The authors report a 20-year-old black woman that presented acute acalculous cholecystitis revealed by abdominal computed tomography. During hospitalization, she was diagnosed systemic lupus erythematosus. Conservative treatment with antibiotics was performed with complete remission of the symptoms. Corticosteroid was started in ambulatory. Cholecystectomy has been the treatment of choice in acute acalculous cholecystitis as a complication of systemic lupus erythematosus. The patient responded well to conservative treatment, and surgery was not required. This case is unique in the way that corticosteroid was started in ambulatory care. We should not forget that the acute acalculous cholecystitis can be the initial presentation of systemic lupus erythematosus although its occurrence is very rare. Conservative treatment should be considered. Abdominal computed tomography was a determinant exam for better assessment of acute acalculous cholecystitis. Copyright © 2013 Elsevier Editora Ltda. All rights reserved.

Syncope as initial symptom for nephrotic syndrome: a case report

PubMed Central

Wu, Xuemei; Wang, Guangliang; Feng, Jiachun

2015-01-01

Although syncope and nephrotic syndrome are frequently encountered independently in pediatric practice, syncope as the initial symptom for nephrotic syndrome is rarely observed in the pediatric age group. In this report, we present the case of 3-year-old boy with nephrotic syndrome who presented with a history of three episodes of syncope before admission. The syncope occurred after excessive fluid loss or inadequate intake of fluids and was relieved spontaneously. History taking revealed that the early morning palpebral edema, and laboratory tests showed decreased plasma protein levels and elevated serum lipid levels. Nephrotic syndrome was diagnosed, but could not be confirmed histopathologically because the patient’s parent refused consent for biopsy. The patient was managed with fluid expansion, correction of acidosis, and improvement of microcirculation to prevent recurrence of syncope, and glucocorticoids were administered to prevent disease progression. PMID:26629237

A case of hypertensive urgency.

PubMed

Baum, Laurence

2016-08-01

A 41-year-old male Nepalese soldier presented to the primary care medical centre with a 1-week history of fatigue and muscle aches following a trip to Nepal. His BP was 164/98 but was otherwise normal. Four days later he presented with new symptoms of sweating and palpitations and a BP of 200/127 whereupon he was admitted to hospital with the diagnosis of hypertensive crisis. Appropriate investigation and initial management were undertaken, and he was discharged after 12 h on antihypertensive treatment. This case highlights the risk of hypertensive crisis in both diagnosed and silent hypertensive disease, and the review highlights the presentations, initial investigation and different management of hypertensive crisis. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Imitating the Great Imitator The Intersection of Sarcoidosis and Hodgkin's Lymphoma A Report of Two Cases.

PubMed

Outlaw, Darryl; Mehta, Amitkumar; Dalvi, Sam R

2018-06-01

Sarcoidosis and Hodgkin's lymphoma represent two distinct diseases with different pathogenic mechanisms, therapeutic interventions, and prognoses. Nevertheless, both diseases can have overlapping presentations, thus blurring the line between successful identification and treatment. A propensity to develop one of these diseases following diagnosis of the other has long been appreciated. Here we review two cases of presumed sarcoidosis that were ultimately diagnosed as Hodgkin's lymphoma. Both patients initially presented with non-specific symptoms and underwent a thorough workup, including histological evaluation demonstrating non-caseating granulomas without evidence of malignancy. Both patients started sarcoid-directed therapies with relapse of symptoms. Repeat imaging and tissue biopsy eventually led to the diagnosis of stage IVB Hodgkin's lymphoma. After the initiation of Hodgkin's-directed therapies, both patients showed marked clinical responses, and entered complete remission.

Chronic shoulder pain referred from thymic carcinoma: a case report and review of literature

PubMed Central

Dee, Shu-Wei; Kao, Mu-Jung; Hong, Chang-Zern; Chou, Li-Wei; Lew, Henry L

2012-01-01

We report a case of thymic carcinoma presenting as unilateral shoulder pain for 13 months. Before an accurate diagnosis was made, the patient received conservative treatment, cervical discectomies, and myofascial trigger point injection, none of which relieved his pain. When thymic carcinoma was eventually diagnosed, he received total resection of the tumor and the shoulder pain subsided completely. Thymic carcinoma is a rare carcinoma, and our review of the literature did not show shoulder pain as its initial presentation except for one case report. The purpose of this report is to document our clinical experience so that other physiatrists can include thymic carcinoma in their differential diagnosis of shoulder pain. PMID:22969299

Pediatric Ramsay Hunt Syndrome: Analysis of Three Cases

PubMed Central

Aydoğdu, İmran; Ataç, Enes; Saltürk, Ziya; Atar, Yavuz; Özdemir, Erdi; Arslanoğlu, Ahmet; Berkiten, Güler

2015-01-01

Ramsay Hunt syndrome (RHS) is a disorder characterized by herpetic eruptions on the auricle, facial paralysis, and vestibulocochlear dysfunction and is attributed to varicella zoster virus (VZV) infection in the geniculate ganglion. Although it is a common cause of acute peripheral facial paralysis, children are not usually affected. The diagnosis is based on history and physical findings. Treatment of RHS uses a combination of high-dose corticosteroids and acyclovir. This paper presents three cases diagnosed as RHS in the pediatric age group in association with the literature review. The aim of this paper is to emphasize the importance of careful examination and early initiation of therapy in suspected cases of RHS. PMID:26435868

Medical malpractice in the management of small bowel obstruction: A 33-year review of case law.

PubMed

Choudhry, Asad J; Haddad, Nadeem N; Rivera, Mariela; Morris, David S; Zietlow, Scott P; Schiller, Henry J; Jenkins, Donald H; Chowdhury, Naadia M; Zielinski, Martin D

2016-10-01

Annually, 15% of practicing general surgeons face a malpractice claim. Small bowel obstruction accounts for 12-16% of all surgical admissions. Our objective was to analyze malpractice related to small bowel obstruction. Using the search terms "medical malpractice" and "small bowel obstruction," we searched through all jury verdicts and settlements for Westlaw. Information was collected on case demographics, alleged reasons for malpractice, and case outcomes. The search criteria yielded 359 initial case briefs; 156 met inclusion criteria. The most common reason for litigation was failure to diagnose and timely manage the small bowel obstruction (69%, n = 107). Overall, 54% (n = 84) of cases were decided in favor of the defendant (physician). Mortality was noted in 61% (n = 96) of cases. Eighty-six percent (42/49) of cases litigated as a result of failing to diagnose and manage the small bowel obstruction in a timely manner, resulting in patient mortality, had a verdict with an award payout for the plaintiff (patient). The median award payout was $1,136,220 (range, $29,575-$12,535,000). A majority of malpractice cases were decided in favor of the defendants; however, cases with an award payout were costly. Timely intervention may prevent a substantial number of medical malpractice lawsuits in small bowel obstruction, arguing in favor of small bowel obstruction management protocols. Copyright © 2016 Elsevier Inc. All rights reserved.

Munchausen by proxy syndrome mimicking systemic autoinflammatory disease: case report and review of the literature.

PubMed

Wittkowski, Helmut; Hinze, Claas; Häfner-Harms, Sigrid; Oji, Vinzenz; Masjosthusmann, Katja; Monninger, Martina; Grenzebach, Ulrike; Foell, Dirk

2017-04-05

Systemic autoinflammatory diseases (SAIDs) represent a growing number of monogenic, polygenic or multifactorial disorders that are often difficult to diagnose. Here we report a patient who was initially erroneously diagnosed and treated for SAID. Symptoms consisted of recurrent fever, erythematous and/or blistering skin lesions, angioedema, susceptibility to bleeding, external ear infections and reversible anisocoria in the absence of laboratory evidence of systemic inflammation. After two and a half years of extensive diagnostic work-up and multiple empirical therapies, a final diagnosis of Munchausen by proxy syndrome (MBPS) was established. The diagnosis of SAID needs to be carefully reassessed if measurable systemic inflammation is missing, and MBPS should be included in the differential diagnosis.

Neuropsychological Criteria for Mild Cognitive Impairment Improves Diagnostic Precision, Biomarker Associations, and Progression Rates

PubMed Central

Bondi, Mark W.; Edmonds, Emily C.; Jak, Amy J.; Clark, Lindsay R.; Delano-Wood, Lisa; McDonald, Carrie R.; Nation, Daniel A.; Libon, David J.; Au, Rhoda; Galasko, Douglas; Salmon, David P.

2014-01-01

We compared two methods of diagnosing mild cognitive impairment (MCI): conventional Petersen/Winblad criteria as operationalized by the Alzheimer’s Disease Neuroimaging Initiative (ADNI) and an actuarial neuropsychological method put forward by Jak and Bondi designed to balance sensitivity and reliability. 1,150 ADNI participants were diagnosed at baseline as cognitively normal (CN) or MCI via ADNI criteria (MCI: n = 846; CN: n = 304) or Jak/Bondi criteria (MCI: n = 401; CN: n = 749), and the two MCI samples were submitted to cluster and discriminant function analyses. Resulting cluster groups were then compared and further examined for APOE allelic frequencies, cerebrospinal fluid (CSF) Alzheimer’s disease (AD) biomarker levels, and clinical outcomes. Results revealed that both criteria produced a mildly impaired Amnestic subtype and a more severely impaired Dysexecutive/Mixed subtype. The neuropsychological Jak/Bondi criteria uniquely yielded a third Impaired Language subtype, whereas conventional Petersen/Winblad ADNI criteria produced a third subtype comprising nearly one-third of the sample that performed within normal limits across the cognitive measures, suggesting this method’s susceptibility to false positive diagnoses. MCI participants diagnosed via neuropsychological criteria yielded dissociable cognitive phenotypes, significant CSF AD biomarker associations, more stable diagnoses, and identified greater percentages of participants who progressed to dementia than conventional MCI diagnostic criteria. Importantly, the actuarial neuropsychological method did not produce a subtype that performed within normal limits on the cognitive testing, unlike the conventional diagnostic method. Findings support the need for refinement of MCI diagnoses to incorporate more comprehensive neuropsychological methods, with resulting gains in empirical characterization of specific cognitive phenotypes, biomarker associations, stability of diagnoses, and prediction of progression. Refinement of MCI diagnostic methods may also yield gains in biomarker and clinical trial study findings because of improvements in sample compositions of ‘true positive’ cases and removal of ‘false positive’ cases. PMID:24844687

[Clinical, epidemiological, and etiological studies of adult aseptic meningitis: a report of 12 cases of herpes simplex meningitis, and a comparison with cases of herpes simplex encephalitis].

PubMed

Himeno, Takahiro; Shiga, Yuji; Takeshima, Shinichi; Tachiyama, Keisuke; Kamimura, Teppei; Kono, Ryuhei; Takemaru, Makoto; Takeshita, Jun; Shimoe, Yutaka; Kuriyama, Masaru

2018-01-26

We treated 437 cases of adult aseptic meningitis and 12 cases (including 2 recurrent patients; age, 31.8 ± 8.9 years; 7 females) of herpes simplex meningitis from 2004 to 2016. The incidence rate of adult herpes simplex meningitis in the cases with aseptic meningitis was 2.7%. One patient was admitted during treatment of genital herpes, but no association was observed between genital herpes and herpes simplex meningitis in the other cases. The diagnoses were confirmed in all cases as the cerebrospinal fluid (CSF) was positive for herpes simplex virus (HSV)-DNA. For diagnosis confirmation, the DNA test was useful after 2-7 days following initial disease onset. Among other types of aseptic meningitis, the patients with herpes simplex meningitis showed relatively high white blood cell counts and relatively high CSF protein and high CSF cell counts. CSF cells showed mononuclear cell dominance from the initial stage of the disease. During same period, we also experienced 12 cases of herpes simplex encephalitis and 21 cases of non-hepatic acute limbic encephalitis. Notably, the patients with herpes simplex meningitis were younger and their CSF protein and cells counts were higher than those of the patients with herpes simplex encephalitis.

Value of Specialist Pathology Review in a Single Statewide Gynecologic Cancer Service.

PubMed

Melon, Jerome; Leung, Yee; Salfinger, Stuart G; Tan, Jason; Mohan, Ganendra; Cohen, Paul A

2017-01-01

A case review by specialist diagnostic pathologists as part of a Gynecologic Oncology Multi-disciplinary Tumor group has the potential to influence the management of patients with cancer. The primary aim of this study was to determine the frequency of diagnostic discrepancies between the initial (nonspecialist) and final pathological diagnoses in cases referred to the Gynecologic Oncology Tumor Conference (TC) in Western Australia and the impact of such revised diagnosis on clinical management. A secondary aim was to assess the evolving workload encountered by the TC during a 5-year interval. The records of the weekly TC for the 2 calendar years 2008 and 2013 were examined, and histological and cytological specimens that had been initially assessed by "outside" (nonspecialist) pathology departments, and subsequently reviewed by specialist pathologists, were assessed. The initial and final diagnoses were compared, and where the pathological findings were amended upon review, it was determined whether the change affected clinical management. Diagnostic discrepancies that resulted in a change in patient management were classified as major, whereas discrepancies that did not affect patient management were classified as minor. A total of 481 outside cases were included among 2387 cases presented for histological review at the TC during the 2 years. For outside cases alone, the incidence of major diagnostic discrepancies was 3.4% in 2008, 5.5% in 2013 (no significant difference, P = 0.3787), and 4.6% for the 2 years combined. A recommendation for surgery was the most common change in clinical management as a result of major discrepancy. The minor discrepancy rate was 4.4% of outside cases for both years combined. Pathological discrepancies (major and minor) of the uterine corpus and cervix were most frequent, followed by those of the vulva and ovary. There was a 48.4% increase in total case discussions at the TC during the interval period with a significant rise in nonmalignant cases, 29.8% of the total cases in 2008 compared with 36.8% in 2013 (P = 0.0004). Nonspecialist pathology departments maintained a high level of reporting accuracy during the interval period, with the major discrepancy rate not changing significantly between 2008 and 2013. Specimens from the uterine corpus and cervix in particular may prove diagnostically challenging on occasion. A pathology review of outside cases by a tertiary-based laboratory in conjunction with a TC can identify a small but clinically significant number of cases that lead to a change in clinical management. It is uncertain whether this affects patient outcomes.

Cutaneous Leishmaniasis in an American Adolescent Returning From Israel.

PubMed

Ganjaei, Kimia G; Lawton, Kira; Gaur, Sunanda

2018-06-06

We present here the case of a healthy 16-year-old American girl who returned from an organized trip to Israel with cutaneous leishmaniasis caused by Leishmania major; the infection was treated successfully with paromomycin-gentamicin ointment. She was initially misdiagnosed with staphylococcal and pseudomonal cellulitis. Although cutaneous leishmaniasis is seen only rarely in the United States, it should be considered when diagnosing new skin lesions after travel to affected countries.

Characteristics of Rib Fractures in Child Abuse-The Role of Low-Dose Chest Computed Tomography.

PubMed

Sanchez, Thomas R; Grasparil, Angelo D; Chaudhari, Ruchir; Coulter, Kevin P; Wootton-Gorges, Sandra L

2018-02-01

Our aim is to describe the radiologic characteristics of rib fractures in clinically diagnosed cases of child abuse and suggest a complementary imaging for radiographically occult injuries in highly suspicious cases of child abuse. Retrospective analysis of initial and follow-up skeletal surveys and computed tomography (CT) scans of 16 patients younger than 12 months were reviewed after obtaining approval from our institutional review board. The number, location, displacement, and age of the rib fractures were recorded. Out of a total 105 rib fractures, 84% (87/105) were detected on the initial skeletal survey. Seventeen percent (18/105) were seen only after follow-up imaging, more than half of which (11/18) were detected on a subsequent CT. Majority of the fractures were posterior (43%) and anterior (30%) in location. An overwhelming majority (96%) of the fractures are nondisplaced. Seventeen percent of rib fractures analyzed in the study were not documented on the initial skeletal survey. Majority of fractures are nondisplaced and located posteriorly or anteriorly, areas that are often difficult to assess especially in the acute stage. The CT scan is more sensitive in evaluating these types of fractures. Low-dose chest CT can be an important imaging modality for suspicious cases of child abuse when initial radiographic findings are inconclusive.

[Two Cases of Curative Resection of Locally Advanced Rectal Cancer after Preoperative Chemotherapy].

PubMed

Mitsuhashi, Noboru; Shimizu, Yoshiaki; Kuboki, Satoshi; Yoshitomi, Hideyuki; Kato, Atsushi; Ohtsuka, Masayuki; Shimizu, Hiroaki; Miyazaki, Masaru

2015-11-01

Reports of conversion in cases of locally advanced colorectal cancer have been increasing. Here, we present 2 cases in which curative resection of locally advanced rectal cancer accompanied by intestinal obstruction was achieved after establishing a stoma and administering chemotherapy. The first case was of a 46-year-old male patient diagnosed with upper rectal cancer and intestinal obstruction. Because of a high level of retroperitoneal invasion, after establishing a sigmoid colostomy, 13 courses of mFOLFOX6 plus Pmab were administered. Around 6 months after the initial surgery, low anterior resection for rectal cancer and surgery to close the stoma were performed. Fourteen days after curative resection, the patient was discharged from the hospital. The second case was of a 66-year-old male patient with a circumferential tumor extending from Rs to R, accompanied by right ureter infiltration and sub-intestinal obstruction. After establishing a sigmoid colostomy, 11 courses of mFOLFOX6 plus Pmab were administered. Five months after the initial surgery, anterior resection of the rectum and surgery to close the stoma were performed. Twenty days after curative resection, the patient was released from the hospital. No recurrences have been detected in either case.

Striatal volume contributes to the prediction of onset of Huntington disease in incident cases.

PubMed

Aylward, Elizabeth H; Liu, Dawei; Nopoulos, Peggy C; Ross, Christopher A; Pierson, Ronald K; Mills, James A; Long, Jeffrey D; Paulsen, Jane S

2012-05-01

Previous neuroimaging research indicates that brain atrophy in Huntington disease (HD) begins many years before movement abnormalities become severe enough to warrant diagnosis. Most clinical trials being planned for individuals in the prediagnostic stage of HD propose to use delay of disease onset as the primary outcome measure. Although formulas have been developed based on age and CAG repeat length, to predict when HD motor onset will occur, it would be useful to have additional measures that can improve the accuracy of prediction of disease onset. The current study examined magnetic resonance imaging (MRI) measures of striatum and white matter volume in 85 individuals prospectively followed from pre-HD stage through diagnosable motor onset (incident cases) and 85 individuals individually matched with incident cases on CAG repeat length, sex, and age, who were not diagnosed with HD during the course of the study. Volumes of striatum and white matter were significantly smaller in individuals who would be diagnosed 1 to 4 years following the initial MRI scan, compared with those who would remain in the pre-HD stage. Putamen volume was the measure that best distinguished between the two groups. Results suggest that MRI volumetric measures may be helpful in selecting individuals for future clinical trials in pre-HD where HD motor onset is the primary outcome measure. In planning for multisite clinical trials in pre-HD, investigators may also want to consider using more objective measures, such as MRI volumes, in addition to onset of diagnosable movement disorder, as major outcome measures. Copyright © 2012 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Utility of cervical spinal and abdominal computed tomography in diagnosing occult pneumothorax in patients with blunt trauma: Computed tomographic imaging protocol matters.

PubMed

Akoglu, Haldun; Akoglu, Ebru Unal; Evman, Serdar; Akoglu, Tayfun; Denizbasi, Arzu; Guneysel, Ozlem; Onur, Ozge; Onur, Ender

2012-10-01

Small pneumothoraces (PXs), which are not initially recognized with a chest x-ray film and diagnosed by a thoracic computed tomography (CT), are described as occult PX (OCPX). The objective of this study was to evaluate cervival spine (C-spine) and abdominal CT (ACT) for diagnosing OCPX and overt PX (OVPX). All patients with blunt trauma who presented consecutively to the emergency department during a 26-months period were included. Among all the chest CTs (CCTs) (6,155 patients) conducted during that period, 254 scans were confirmed to have a true PX. The findings in their C-spine CT and ACT were compared with the findings in CCTs. Among these patients, 254 had a diagnosis of PX confirmed with CCT. OCPXs were identified on the chest computed tomographic scan of 128 patients (70.3%), whereas OVPXs were evident in 54 patients (29.7%). Computed tomographic imaging of the C-spine was performed in 74% of patients with OCPX and 66.7% of patients with OVPX trauma. Only 45 (35.2%) cases of OCPX and 42 (77.8%) cases of OVPX were detected by C-spine CT. ACT was performed in almost all patients, and 121 (95.3%) of 127 of these correctly identified an existing OCPX. Sensitivity of C-spine CT and ACT was 35.1% and 96.5%, respectively; specificity was 100% and 100%, respectively. Almost all OCPXs, regardless of intrathoracic location, could be detected by ACT or by combining C-spine and abdominal computed tomographic screening for patients. If the junction of the first and second vertebra is used as the caudad extent, C-spine CT does not have sufficient power to diagnose more than a third of the cases. Diagnostic study, level III.

Effectiveness of screening for gestational diabetes during the late gestational period among pregnant Turkish women.

PubMed

Kurtbas, Handan; Keskin, H Levent; Avsar, A Filiz

2011-06-01

To assess the incidence of gestational diabetes mellitus (GDM) beyond 30 gestational weeks (GW) in pregnant Turkish women and to determine the criteria for repeating the test during the late period of gestation when the results were normal after the initial screen. Two hundred pregnant women were enrolled. Maternal age, gravidity, parity and presence of other risk factors (family history of diabetes mellitus, habitual abortions, prior fetal macrosomia, obesity, gestational hypertension history) were collected. First, GDM was evaluated between the 24th and 28th GW by screening (50-g glucose challenge test) and diagnostic tests. This protocol was repeated again at least 1 month from the first screen at the 30th-34th GW in all patients, except those diagnosed with GDM due to an abnormal 3-h test. The results were compared with the clinical risk factors. In total, 19.5% of the cases had positive results in the first screening test. Six patients were diagnosed with GDM. Among the remaining 194 pregnancies, another 10 cases were diagnosed as having GDM with repeated tests, and the incidence of newly diagnosed GDM was 5.2%. Only the mean age (34.2 years) (P = 0.010) and a history of delivering a macrosomic infant (P < 0.010) were significantly high in the late-gestation GDM-positive cases. Even when early screening tests are negative, pregnancies with advanced maternal ages and those with a history of delivering a macrosomic infant should be re-evaluated for GDM during the late gestational period with screening and diagnostic tests. © 2011 The Authors. Journal of Obstetrics and Gynaecology Research © 2011 Japan Society of Obstetrics and Gynecology.

Mycobacterial tuberculosis superimposed on a Warthin tumor.

PubMed

Wu, Kang-Chao; Chen, Bo-Nien

2012-05-01

The concomitant occurrence of tuberculosis infection within a Warthin tumor is extremely rare, as only 6 cases have been previously reported in the English-language literature. We report a new case in a 92-year-old man, who presented with a 20-year history of a painless swelling in the right infra-auricular area that had recently become painful and larger. The patient had no history of tuberculosis, weight loss, or chronic cough. The fluctuant mass was aspirated, but histopathology and routine culture were negative. Computed tomography identified a 5-cm, heterogeneous, enhancing mass with multiple, variably sized, low-density areas without surrounding edema in the area of the right parotid gland. Complete excision was performed to relieve the patient's symptoms. Histopathology diagnosed an acid-fast bacillus infection within a Warthin tumor. On polymerase chain reaction testing, formalin-fixed, paraffin-embedded tissue was negative for tuberculosis, but subsequent culture identified Mycobacterium tuberculosis. Initially, the patient refused antituberculosis therapy, but he relented when miliary pulmonary tuberculosis was diagnosed 11 weeks postoperatively.

Chlamydia trachomatis infection: the efficacy and safety of a fast-track referral and treatment system.

PubMed

Sethupathi, M; Blackwell, A

2009-03-01

We introduced a Nurse/Health Advisor-led fast-track service for treating patients diagnosed with chlamydia outside a genitourinary medicine setting and contacts of chlamydia/non-specific urethritis/cervicitis wherever diagnosed. Asymptomatic patients were treated without initial testing and asked to return for full screening at four to six weeks. We assessed the efficacy and safety of the system and need for follow-up after treatment. Case-notes of 226 patients (121 men and 105 women) were analysed, of whom 140 attended follow-up. With the exception of one case of gonorrhoea, no other serious sexually transmitted infection was detected. Twenty-seven (19.2%) patients were re-treated for either chlamydia (six patients, 4.4%) or non-specific genital infection or because of having unprotected intercourse with untreated or partially treated partners. We conclude that in our relatively low-risk population, our fast-track service is safe and effective. Test of cure for chlamydia seems essential because of the high percentage of patients requiring re-treatment.

Bedside ultrasound in the diagnosis of complex hand infections: a case series.

PubMed

Marvel, Brett A; Budhram, Gavin R

2015-01-01

The red, swollen, infected hand can be a diagnostically challenging presentation in the emergency department (ED). Hand infections are a relatively uncommon ED complaint, and diagnoses may range from simple cellulitis to deep space abscess, and even to suppurative flexor tenosynovitis. The accurate differentiation of these clinical entities is of paramount importance to healing and recovery of function. In this case series, we review 4 patients with similar presenting complaints of a red, swollen hand, but with much different diagnoses and eventual treatment strategies. We describe how ultrasound was used to assist in making the diagnosis and initiating the most appropriate therapy. Finally, we review techniques for sonographic evaluation of the hand and provide imaging tips to improve visualization and accurate diagnosis. Why should an emergency physician be aware of this? Bedside ultrasound may allow for a more rapid and accurate diagnosis of various hand infections when diagnosis by physical examination is unclear. Copyright © 2015 Elsevier Inc. All rights reserved.

Rapidly progressive internal root resorption: a case report.

PubMed

Keinan, David; Heling, Ilana; Stabholtz, Adam; Moshonov, Joshua

2008-10-01

The etiology of internal root resorption is not fully understandable, trauma and chronic pulpitis are considered the main risk factors. Usually the process is asymptomatic and diagnosed upon routine radiographic examination. This case report presents a rapid progression of internal resorption related directly to traumatic injury. A 16-year-old female arrived at the emergency room after a mild extrusion of the mandibular incisors. The initial treatment included repositioning and splinting of the teeth. Radiographs performed at repositioning and splinting demonstrated normal configuration of the incisor's roots. Ten months later progressive internal resorption of the left mandibular first incisor was diagnosed. While treating this tooth similar process was detected in the right mandibular second incisor and in the mandibular left second incisor. The lower right first incisor reacted inconsistently to vitality test. As a result of the severe and rapidly progressive nature of the process, root canal treatments were performed in all lower incisors. The follow-up radiographs demonstrate arrest of the internal resorption process.

Amebic Liver Abscess Diagnosed by Polymerase Chain Reaction in 14 Returning Travelers

PubMed Central

Vallois, Dorothée; Epelboin, Loïc; Touafek, Feriel; Magne, Denis; Thellier, Marc; Bricaire, François; Caumes, Eric

2012-01-01

Amebic liver abscesses (ALA) are not commonly described in travelers. The ALA diagnosis is usually based on serology and Entamoeba histolytica polymerase chain reaction (PCR) is a new tool. We retrospectively reviewed all ALA cases diagnosed by PCR on the liver abscess pus aspirate of patients admitted in French hospitals between 2007 and 2011. Fourteen cases (10 male, median age 48 years) were included. The median lag time between return and onset of symptoms was 23 days (interquartile range [IQ] 18–24). All patients had an elevated cardiopulmonary resuscitation level, and 11 had leukocytosis. The ALA was multiple in five patients, localized in the right lobe in 12, and higher than 5 cm in 11. Serology was initially negative in one patient, whereas PCR was positive. There was bacterial co-infection in one patient. The outcome was good. Liver puncture allows a rapid diagnosis of ALA with PCR and helps identify the association with a bacterial dual infection. PMID:23033402

Distance to testing sites and its association with timing of HIV diagnosis.

PubMed

Cope, Anna B; Powers, Kimberly A; Serre, Marc L; Escamilla, Veronica; Emch, Michael E; Leone, Peter A; Mobley, Victoria L; Miller, William C

2016-11-01

Early HIV diagnosis enables prompt treatment initiation, thereby contributing to decreased morbidity, mortality, and transmission. We aimed to describe the association between distance from residence to testing sites and HIV disease stage at diagnosis. Using HIV surveillance data, we identified all new HIV diagnoses made at publicly funded testing sites in central North Carolina during 2005-2013. Early-stage HIV was defined as acute HIV (antibody-negative test with a positive HIV RNA) or recent HIV (normalized optical density <0.8 on the BED assay for non-AIDS cases); remaining diagnoses were considered post-early-stage HIV. Street distance between residence at diagnosis and (1) the closest testing site and (2) the diagnosis site was dichotomized at 5 miles. We fit log-binomial models using generalized estimating equations to estimate prevalence ratios (PR) and robust 95% confidence intervals (CI) for post-early-stage diagnoses by distance. Models were adjusted for race/ethnicity and testing period. Most of the 3028 new diagnoses were black (N = 2144; 70.8%), men who have sex with men (N = 1685; 55.7%), and post-early-stage HIV diagnoses (N = 2010; 66.4%). Overall, 1145 (37.8%) cases traveled <5 miles for a diagnosis. Among cases traveling ≥5 miles for a diagnosis, 1273 (67.6%) lived <5 miles from a different site. Residing ≥5 miles from a testing site was not associated with post-early-stage HIV (adjusted PR, 95% CI: 0.98, 0.92-1.04), but traveling ≥5 miles for a diagnosis was associated with higher post-early HIV prevalence (1.07, 1.02-1.13). Most of the elevated prevalence observed in cases traveling ≥5 miles for a diagnosis occurred among those living <5 miles from a different site (1.09, 1.03-1.16). Modest increases in post-early-stage HIV diagnosis were apparent among persons living near a site, but choosing to travel longer distances to test. Understanding reasons for increased travel distances could improve accessibility and acceptability of HIV services and increase early diagnosis rates.

Lead toxicity in battery workers.

PubMed

Qasim, Saeeda Fouzia; Baloch, Malka

2014-11-01

Lead poisoning is a medical condition caused by increased levels of lead in the body. Routes of exposure include contaminated air, water, soil, food and consumer products. Occupational exposure is the main cause of lead poisoning in the adults. Two cases of occupational lead poisoning in adult battery workers are hereby presented. Both male patients had initial non-specific symptoms of intermittent abdominal pain, fatigue and headache for 6 - 8 years. Later on, they developed psychosis, slurred speech, tremors of hands and initially underwent treatment for Parkinsonism and Wilson's disease because of clinical misdiagnosis. They were diagnosed with lead poisoning later and were treated successfully with lead chelator (CaNa2 EDTA).

Anticholinergic Exposure and Risk of Pneumonia in Persons with Alzheimer's Disease: A Nested Case-Control Study.

PubMed

Lampela, Pasi; Tolppanen, Anna-Maija; Tanskanen, Antti; Tiihonen, Jari; Hartikainen, Sirpa; Taipale, Heidi

2017-01-01

Risk of pneumonia is increased in persons with Alzheimer's disease (AD). In some studies, anticholinergic drugs (AC) have been associated with an increased pneumonia risk. We analyzed the risk of pneumonia associated with ACs in persons with AD. We performed a nested case-control study using register-based data from a Finnish nationwide MEDALZ cohort including all community-dwelling persons diagnosed with AD during 2005-2011. Cases were identified based on pneumonia diagnoses (n = 12,442) from hospital discharge and causes of death registers. Up to two controls without pneumonia were matched based on time since AD diagnoses, age, and gender for each case; AC use was measured using Anticholinergic Drug Scale. Use of AC was associated with an increased risk of pneumonia (adjusted odds ratio (OR) 1.36, 95% confidence interval (CI) 1.29-1.43). However, there was no increased pneumonia risk in persons using level 3 ACs. Incident use was associated with higher risk of pneumonia (OR 2.68, 95% CI 2.15-3.34) than prevalent use (OR 1.48, 95% CI 1.40-1.57). Among persons using cholinesterase inhibitors (AChEIs), risk of pneumonia was increased in persons using also ACs (OR 1.53, 95% CI 1.41-1.66). ACs were associated with an increased risk of pneumonia in persons with AD, especially at the time of initiation of these drugs. AC use was associated with increased pneumonia risk also in persons using AChEIs. This risk should be carefully considered when treating AD patients.

Multimodal ultrasonographic assessment of leiomyosarcoma of the femoral vein in a patient misdiagnosed as having deep vein thrombosis

PubMed Central

Zhang, Mei; Yan, Feng; Huang, Bin; Wu, Zhoupeng; Wen, Xiaorong

2017-01-01

Abstract Rationale: Primary leiomyosarcoma (LMS) of the vein is a rare tumor that arises from the smooth muscle cells of the vessel wall and has an extremely poor prognosis. This tumor can occur in vessels such as the inferior vena cava, great saphenous vein, femoral vein, iliac vein, popliteal vein, and renal vein; the inferior vena cava is the most common site. LMS of the femoral vein can result in edema and pain in the lower extremity; therefore, it is not easy to be differentiated from deep vein thrombosis (DVT). Moreover, virtually no studies have described the ultrasonographic features of LMS of the vein in detail. Patient concerns: We present a case of a 55-year-old woman with LMS of the left femoral vein that was misdiagnosed as having deep vein thrombosis (DVT) on initial ultrasonographic examination. The patient began to experience edema and pain in her left leg seven months previously. She was diagnosed as having DVT on initial ultrasonographic examination, but the DVT treatment that she had received for 7 months failed to improve the status of her left lower limb. Diagnoses: She subsequently underwent re-examination by means of a multimodal ultrasonographic imaging approach (regular B-mode imaging, color Doppler imaging, pulsed-wave Doppler imaging, contrast-enhanced ultrasonography), which confirmed a diagnosis of LMS. Interventions: This patient was treated successfully with surgery. Outcomes: This case demonstrates that use of multiple ultrasonographic imaging techniques can be helpful to diagnose LMS accurately. Detection of vasculature in a dilated vein filled with a heterogeneous hypoechoic substance on ultrasonography is a sign of a tumor. Lessons: The pitfall of misdiagnosing this tumor as DVT is a useful reminder. PMID:29145269

Initial experience with a novel pre-sign-out quality assurance tool for review of random surgical pathology diagnoses in a subspecialty-based university practice.

PubMed

Owens, Scott R; Wiehagen, Luke T; Kelly, Susan M; Piccoli, Anthony L; Lassige, Karen; Yousem, Samuel A; Dhir, Rajiv; Parwani, Anil V

2010-09-01

We recently implemented a novel pre-sign-out quality assurance tool in our subspecialty-based surgical pathology practice at the University of Pittsburgh Medical Center. It randomly selects an adjustable percentage of cases for review by a second pathologist at the time the originating pathologist's electronic signature is entered and requires that the review be completed within 24 hours, before release of the final report. The tool replaced a retrospective audit system and it has been in successful use since January 2009. We report our initial experience for the first 14 months of its service. During this time, the disagreement numbers and levels were similar to those identified using the retrospective system, case turnaround time was not significantly affected, and the number of case amendments generated decreased. The tool is a useful quality assurance instrument and its prospective nature allows for the potential prevention of some serious errors.

The South African Tuberculosis Care Cascade: Estimated Losses and Methodological Challenges.

PubMed

Naidoo, Pren; Theron, Grant; Rangaka, Molebogeng X; Chihota, Violet N; Vaughan, Louise; Brey, Zameer O; Pillay, Yogan

2017-11-06

While tuberculosis incidence and mortality are declining in South Africa, meeting the goals of the End TB Strategy requires an invigorated programmatic response informed by accurate data. Enumerating the losses at each step in the care cascade enables appropriate targeting of interventions and resources. We estimated the tuberculosis burden; the number and proportion of individuals with tuberculosis who accessed tests, had tuberculosis diagnosed, initiated treatment, and successfully completed treatment for all tuberculosis cases, for those with drug-susceptible tuberculosis (including human immunodeficiency virus (HIV)-coinfected cases) and rifampicin-resistant tuberculosis. Estimates were derived from national electronic tuberculosis register data, laboratory data, and published studies. The overall tuberculosis burden was estimated to be 532005 cases (range, 333760-764480 cases), with successful completion of treatment in 53% of cases. Losses occurred at multiple steps: 5% at test access, 13% at diagnosis, 12% at treatment initiation, and 17% at successful treatment completion. Overall losses were similar among all drug-susceptible cases and those with HIV coinfection (54% and 52%, respectively, successfully completed treatment). Losses were substantially higher among rifampicin- resistant cases, with only 22% successfully completing treatment. Although the vast majority of individuals with tuberculosis engaged the public health system, just over half were successfully treated. Urgent efforts are required to improve implementation of existing policies and protocols to close gaps in tuberculosis diagnosis, treatment initiation, and successful treatment completion. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America.

Solitary Fibrous Tumors of the Orbit and Central Nervous System: A Case Series Analysis

PubMed Central

Brum, Marisa; Nzwalo, Hipólito; Oliveira, Edson; Pelejão, Maria Rita; Pereira, Pedro; Farias, João Paulo; Pimentel, José

2018-01-01

Introduction: Solitary fibrous tumor (SFT) is rarely diagnosed in clinical practice. Since its initial descriptions in the central nervous system (CNS) and the orbits, very few case reports and small case series have expanded their clinical and pathological characterization. We sought to describe a cases series of SFT from a single laboratory of neuropathology belonging to a tertiary university hospital. Methods: Retrospective clinical and histopathological description of eight cases of CNS and orbital SFT diagnosed over a 21-year period of time. Results: Median age was 47.3 years and four were males. Clinical presentation was related to local mass effect in all. Tumors occurred in the orbits (5/62.5%), intracranial dura attached (2), and the spinal medulla (1). The neuropathology showed the presence of hemangiopericytoma type (2), classic type (3), and mixed type (3). Histological anaplasia was present in two cases. Widespread/total immunoreactivity for vimentin, CD34, and Bcl-2 was present in all. Gross total removal was conducted in the majority (6/75%) and subtotal removal in 2 (25%). Three patients were submitted to adjuvant treatment (radiosurgery and radiotherapy). Recurrence occurred in four patients, 13–120 months after surgical intervention. Anaplasia was present in one case of recurrence. Conclusion: Our case series confirms the clinical and neuropathological diversity of CNS and orbital SFTs. Studies with longer follow-up periods are necessary to better understand the clinical behavior and prognosis of the SFT in the CNS and orbits. PMID:29682031

Tinea atypica: report of nine cases.

PubMed

Zisova, Liliya Georgieva; Dobrev, Hristo Petrov; Tchernev, Georgi; Semkova, Kristina; Aliman, Anastasia Atanasova; Chorleva, Kristina Ivanova; Chapanova, Antonina Teneva; Vutova, Nina Ivanova; Wollina, Uwe

2013-12-01

Fungal infections of the skin are a common condition, usually easy to diagnose and treat. When the infection is clinically mimicking another cutaneous disorder or when the clinical presentation is modified by the use of inappropriate treatment, it is referred to as tinea atypica or tinea incognito.We report a series of nine cases of patients with tinea atypica, imitating and diagnosed initially as different skin diseases. Two patients were defined as pyoderma in the facial and pubic regions (caused respectively by Trichophyton mentagrophytes var. mentagrophytes and Microsporum canis) and one as herpes zoster ophthalmicus (caused by Trichophyton rubrum). Six additional patients were initially misdiagnosed: (1) Plaque-like formation of the skin misdiagnosed as an impetiginized eczema (with isolated agent Trichophyton verrucosum). (2) A rare form of skin infection of the hand caused by T. rubrum, imitating clinically cutaneous infection with tuberculum mulgentium. (3) Rosacea-like dermatitis with an isolated agent Fusarium. (4) A patient with the typical clinical symptoms of seborrheic dermatitis of the face (and with isolated T. rubrum as a causative agent). (5) Another patient presented with a widespread folliculitis by Trichophyton mentagrophytes. (6) In a patient with bullous pemphigoid and immunosuppression pemphigoid-like eruptions were caused by Malassezia pachydermatis and T. rubrum. The diagnosis in the presented cases was based on direct microscopic examination with KOH and a culture on Sabouraud agar.After the diagnosis of tinea, treatment with topical and systemic antifungal agents was administrated, followed by complete clinical remissions in all cases.The clinical manifestations of tinea atypica can mimic a large number of other dermatoses, which often leads to misdiagnosing, and as a consequence--to serious difficulties in the management of clinical symptoms and in offering appropriate therapy.

Ten-year experiences on initial genetic examination in childhood acute lymphoblastic leukaemia in Hungary (1993-2002). Technical approaches and clinical implementation.

PubMed

Olah, Eva; Balogh, Erzsebet; Pajor, Laszlo; Jakab, Zsuzsanna

2011-03-01

A nationwide study was started in 1993 to provide genetic diagnosis for all newly diagnosed childhood ALL cases in Hungary using cytogenetic examination, DNA-index determination, FISH (aneuploidy, ABL/BCR, TEL/AML1) and molecular genetic tests (ABL/BCR, MLL/AF4, TEL/AML1). Aim of the study was to assess the usefulness of different genetic methods, to study the frequency of various aberrations and their prognostic significance. Results were synthesized for genetic subgrouping of patients. To assess the prognostic value of genetic aberrations overall and event-free survival of genetic subgroups were compared using Kaplan-Meier method. Prognostic role of aberrations was investigated by multivariate analysis (Cox's regression) as well in comparison with other factors (age, sex, major congenital abnormalities, initial WBC, therapy, immunophenotype). Five hundred eighty-eight ALL cases were diagnosed between 1993-2002. Cytogenetic examination was performed in 537 (91%) (success rate 73%), DNA-index in 265 (45%), FISH in 74 (13%), TEL/AML1 RT-PCR in 219 (37%) cases producing genetic diagnosis in 457 patients (78%). Proportion of subgroups with good prognosis in prae-B-cell ALL was lower than expected: hyperdiploidB 18% (73/400), TEL/AML1+ 9% (36/400). Univariate analysis showed significantly better 5-year EFS in TEL/AML1+ (82%) and hyperdiploidB cases (78%) than in tetraploid (44%) or pseudodiploid (52%) subgroups. By multivariate analysis main negative prognostic factors were: congenital abnormalities, high WBC, delay in therapy, specific translocations. Complementary use of each of genetic methods used is necessary for reliable genetic diagnosis according to the algorithm presented. Specific genetic alterations proved to be of prognostic significance.

Stability of Initial Autism Spectrum Disorder Diagnoses in Community Settings

ERIC Educational Resources Information Center

Daniels, Amy M.; Rosenberg, Rebecca E.; Law, J. Kiely; Lord, Catherine; Kaufmann, Walter E.; Law, Paul A.

2011-01-01

The study's objectives were to assess diagnostic stability of initial autism spectrum disorder (ASD) diagnoses in community settings and identify factors associated with diagnostic instability using data from a national Web-based autism registry. A Cox proportional hazards model was used to assess the relative risk of change in initial ASD…

Case Report: A Rosette-forming Glioneuronal Tumor in the Tectal Plate in a Patient with Neurofibromatosis Type I.

PubMed

Sieg, Emily P; Payne, Russell; Langan, Sara; Specht, Charles S

2016-11-01

We report the case of a 41-year-old female with neurofibromatosis Type 1 (NF1) who developed a rosette-forming glioneuronal tumor (RGNT) in the tectal plate. This tumor was diagnosed in 2002 when the patient presented with obstructive hydrocephalus, which was subsequently treated with a ventriculoperitoneal shunt and then an endoscopic third ventriculostomy. Initially thought to be a pilocytic astrocytoma, it was followed with serial magnetic resonance imaging (MRI) until tumor progression and development of a large fourth ventricular cystic component prompted resection via suboccipital craniotomy. Histological examination demonstrated an RGNT, a WHO Grade 1 tumor, with neurocytic rosettes, perivascular pseudorosettes, and elements resembling a pilocytic astrocytoma. Initially, the patient did well after her craniotomy, but postoperative complications set in that eventually led to her death. In this case report, we describe a relatively rare tumor that, despite its benign nature, leads to frequent complications and deficits due to its surgically challenging location. Along with previously reported examples, this cases raises the possibility of a causal relationship between NF1 and RGNT.

Choroidal metastasis from early rectal cancer: Case report and literature review

PubMed Central

Tei, Mitsuyoshi; Wakasugi, Masaki; Akamatsu, Hiroki

2014-01-01

INTRODUCTION Choroidal metastasis from colorectal cancer is rare, and there have been no reported cases of such metastasis from early colorectal cancer. We report a case of choroidal metastasis from early rectal cancer. PRESENTATION OF CASE A 61 year-old-man experienced myodesopsia in the left eye 2 years and 6 months after primary rectal surgery for early cancer, and was diagnosed with left choroidal metastasis and multiple lung metastases. Radiotherapy was initiated for the left eye and systemic chemotherapy is initiated for the multiple lung metastases. The patient is living 2 years and 3 months after the diagnosis of choroidal metastasis without signs of recurrence in the left eye, and continues to receive systemic chemotherapy for multiple lung metastases. DISCUSSION Current literatures have few recommendations regarding the appropriate treatment of choroidal metastasis from colorectal cancer, but an aggressive multi-disciplinary approach may be effective in local regression. CONCLUSION This is the first report of choroidal metastasis from early rectal cancer. We consider it important to enforce systemic chemotherapy in addition to radiotherapy for choroidal metastasis from colorectal cancer. PMID:25460493

[Lung adenocarcinoma with concomitant EGFR mutation and ALK rearrangement].

PubMed

Caliez, J; Monnet, I; Pujals, A; Rousseau-Bussac, G; Jabot, L; Boudjemaa, A; Leroy, K; Chouaid, C

2017-05-01

Among patients with non-small-cell lung cancer, coexistence of EGFR mutation and ALK rearrangement is rare. We describe the clinical features of two patients with this double anomaly. A 62-year-old Caucasian non-smoking woman was diagnosed with cT4N0M0 lung adenocarcinoma. Initial biopsy showed EGFR mutation and ALK rearrangement. She received cisplatin-gemcitabine, followed by 17 months of gemcitabine. Owing to progression, she received erlotinib for 14 months, then paclitaxel for 6 months and finally crizotinib. A partial response was achieved and maintained for 24 months. A 45-year-old Caucasian woman, light smoker, was diagnosed with cT2N3M0 lung adenocarcinoma. Only EGFR mutation was found on initial analysis. She underwent treatment with cisplatin-gemcitabine and thoracic radiotherapy. Progression occurred after 8 months and afatinbib was started. Eight months later, progression was observed with a neoplasic pleural effusion in which tumor cells expressing ALK rearrangement were found. A new FISH analysis was performed on the initial tumor but did not find this rearrangement. Despite a third line of crizotinib, the patient died one month later. The literature shows 45 other cases of these two abnormalities, observed either from the start or during follow-up. EGFR's TKI were almost always given before ALK's TKI. Therapeutic strategy needs to be clarified in cases of double alteration. With regard to the second patient, appearance of ALK rearrangement may constitute a resistance mechanism to EGFR's TKI. Copyright © 2016 SPLF. Published by Elsevier Masson SAS. All rights reserved.

Clinical Impact of Emphysema Evaluated by High-Resolution Computed Tomography on Idiopathic Pulmonary Fibrosis Diagnosed by Surgical Lung Biopsy.

PubMed

Kohashi, Yasuo; Arai, Toru; Sugimoto, Chikatoshi; Tachibana, Kazunobu; Akira, Masanori; Kitaichi, Masanori; Hayashi, Seiji; Inoue, Yoshikazu

2016-01-01

The prognosis of combined cases of pulmonary fibrosis and emphysema is unresolved partially because radiological differentiation between usual interstitial pneumonia and nonspecific interstitial pneumonia is difficult in coexisting emphysema cases. The purpose of this study was to clarify the clinical impact of emphysema on the survival of patients with idiopathic pulmonary fibrosis (IPF). One hundred and seven patients with interstitial lung diseases were diagnosed by surgical lung biopsies between 2006 and 2012, and 47 patients were diagnosed with IPF through multidisciplinary discussion. Emphysema on high-resolution computed tomography scans was evaluated semiquantitatively by visual scoring. Eight out of the 47 IPF patients showed a higher emphysema score (>3) and were diagnosed to have IPF-emphysema. The median survival time of patients with IPF-emphysema (1,734 days) from the initial diagnosis was significantly shorter than that of patients with IPF alone (2,229 days) by Kaplan-Meier analysis (p = 0.007, log-rank test). Univariate Cox proportional hazard regression analyses revealed that a higher total emphysema score (>3.0) was a significantly poor prognostic factor in addition to Krebs von den Lungen-6, surfactant protein-D, arterial oxygen tension, percent forced vital capacity, and percent diffusing capacity of carbon monoxide (%DLCO). Multivariate Cox proportional hazard regression analyses with the stepwise method showed that higher total emphysema score (>3) and %DLCO were significantly poor prognostic factors. The prognosis of IPF-emphysema was significantly worse than that of IPF alone. © 2016 S. Karger AG, Basel.

A survey of adult referrals to specialist attention-deficit/hyperactivity disorder clinics in Canada

PubMed Central

Klassen, Larry J; Blackwood, C Matthew; Reaume, Christopher J; Schaffer, Samuel; Burns, James G

2018-01-01

Background Canadian guidelines encourage family physicians to diagnose/manage adults with uncomplicated attention-deficit/hyperactivity disorder (ADHD); specialist referral is recommended only for complex cases. This retrospective case review investigated adults referred to Canadian ADHD clinics. Methods Adult ADHD specialists reviewed referral letters/charts of patients (aged ≥18 years and no family history/known/expressed childhood ADHD) from family physicians/psychiatrists over 2 years. Results Data on 515 referrals (mean age 33 years, 60% males) were collected (December 2014 to September 2015); 472/515 (92%) were made by family physicians. No psychiatric comorbid symptoms were noted in 344/515 (67%) referrals. ADHD was confirmed by a specialist in 483/515 (94%) cases, whether comorbid symptoms were noted at referral (155/171 [91%]) or not (328/344 [95%]). ADHD was reported to impact “work” (251/317 [79%]), “school” (121/166 [73%]), “social/friends” (260/483 [54%]), and “spouse/family” (231/483 [48%]). Overall, 335/483 (69%) patients had more than or equal to one comorbid symptom (diagnosed by referring physician or specialist). Stimulant monotherapy was recommended for 383/483 (79%) patients, non-stimulant monotherapy for 41/483 (8%) patients, and stimulant plus non-stimulant monotherapy for 39/483 (8%) patients. Almost half of patients were returned for referring physician’s follow-up, either before treatment initiation (102/483 [21%]) or after treatment stabilization (99/483 [20%]). Follow-up was by a specialist for 282/483 (58%) patients. Conclusion ADHD diagnosis was specialist confirmed in most cases. Although most referrals (67%) noted no psychiatric comorbid symptoms, 69% of patients had ≥1 such symptom (diagnosed by a referring physician or specialist), so comorbid symptoms although not always noted at referral, may have contributed to the decision to refer. ADHD has a wide-ranging impact on patients’ daily lives. It is possible that greater confidence of family physicians to diagnose and treat adult ADHD could help to meet patients’ needs. PMID:29317844

Occult thyroid carcinoma in our experience -- should we reconsider total thyroidectomy for benign thyroid pathology?

PubMed

Alecu, L; Bărbulescu, M; Ursuţ, B; Enciu, O; Slavu, I; Braga, V

2014-01-01

The reported incidence rate of occult thyroid carcinoma in patients operated for benign thyroid pathology has been much higher than expected in the last years,especially for multinodular goitre, which raises the question about which should the proper surgical management for these cases be. To assess the incidence rate of OTC in a single medium volume surgical center and to establish the correct indication for initial surgical management, as well as to identify the benign thyroid pathology most frequently associated with OTC. We also reviewed the relevant scientific literature on this topic. We conducted a retrospective study in the General Surgery Clinic of "Prof. dr. Agrippa Ionescu" Clinical Emergency Hospital, Bucharest, on a series of 145 patients who underwent surgical interventions for preoperatively diagnosed benign thyroid pathology over a ten year period, between 1st January 2002 - 31st December 2012. All cases of known thyroid cancer were excluded. Incidence rate of occult thyroid carcinoma in our series was 6.9 % (10 out of 145 patients), 80 % of them being diagnosed with multinodular goitre and two cases (20 %) with Hashimoto's lymphocytic thyroiditis. 6.8 % of all patients with multinodular goitre were found to present occult carcinoma,but this association was without statistical significance(p 0.05). Incidence rate of occult cancer among patients with Hashimoto thyroiditis was proved to be as high as 28.6%,statistically significant (p=0.020). The mean size of postoperatively diagnosed occult microcarcinoma was 7 mm, ranging between 3 mm and 14 mm, 90% of them being smaller than 1cm. Histologically, papillary microcarcinoma was found in all cases. The mean age of the patients diagnosed with occult microcarcinoma was 47.8 years with majority of the female gender. The most frequent operation performed was total thyroidectomy (70.8%). Overall morbidity in our series was 6.9% with a 0.7 % mortality rate (1 case). In our opinion, primary total thyroidectomy should be performed as the procedure of choice for the most part of preoperatively diagnosed benign thyroid pathology and particularly for multinodular goitre and Hashimoto thyroiditis,in order to radically resect all possible foci of aggressive thyroid microcarcinomas.Abbreviations and Acronyms: OTC (Occult Thyroid Carcinoma), PTMC (Papillary Thyroid Microcarcinoma); TT(Total Thyroidectomy), MNG (Multinodular Goitre), GD(Graves' disease), TNG (Toxic Nodular Goitre), FNAB(fine-needle aspiration biopsy). Celsius.

Non-malignant pathological results on transthoracic CT guided core-needle biopsy: when is benign really benign?

PubMed

Rui, Y; Han, M; Zhou, W; He, Q; Li, H; Li, P; Zhang, F; Shi, Y; Su, X

2018-06-06

To determine true negatives and characterise the variables associated with false-negative results when interpreting non-malignant results of computed tomography (CT)-guided lung biopsy. Nine hundred and fifty patients with initial non-malignant findings on their first transthoracic CT-guided core-needle biopsy (TTNB) were included in the study. Initial biopsy results were compared to definitive diagnoses established later. The negative predictive value (NPV) of non-malignant diseases upon initial TTNB was 83.6%. When the biopsy results indicated specific infection or benign tumour (n=225, 26.1%), they all were confirmed true negative for malignancy later. Only one inconclusive "granuloma" diagnosis was false negative. All 141 patients (141/861, 16.4%) who were false negative for malignancy were from the "infection not otherwise specified (NOS)", "inflammatory diseases", or "inconclusive" groups. Age (p=0.002), cancer history (p<0.001), target size (p=0.003), and pneumothorax during lung biopsy (p=0.003) were found to be significant predictors of false-negative results; 47.6% (410/861) of patients underwent additional invasive examinations to reach a final diagnosis. Ultimately, 52.7% (216/410) were successfully diagnosed. Specific infection, benign tumour, and granulomatous inflammation of first TTNBs were mostly true negative. Older age, history of cancer, larger target size, and pneumothorax were highly predictive of false-negative results for malignancies. In such cases, additional invasive examinations were frequently necessary to obtain final diagnoses. Copyright © 2018 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

A computer-aided diagnostic system for kidney disease

PubMed Central

Jahantigh, Farzad Firouzi; Malmir, Behnam; Avilaq, Behzad Aslani

2017-01-01

Background Disease diagnosis is complicated since patients may demonstrate similar symptoms but physician may diagnose different diseases. There are a few number of investigations aimed to create a fuzzy expert system, as a computer aided system for disease diagnosis. Methods In this research, a cross-sectional descriptive study conducted in a kidney clinic in Tehran, Iran in 2012. Medical diagnosis fuzzy rules applied, and a set of symptoms related to the set of considered diseases defined. The input case to be diagnosed defined by assigning a fuzzy value to each symptom and then three physicians asked about each suspected diseases. Then comments of those three physicians summarized for each disease. The fuzzy inference applied to obtain a decision fuzzy set for each disease, and crisp decision values attained to determine the certainty of existence for each disease. Results Results indicated that, in the diagnosis of seven cases of kidney disease by examining 21 indicators using fuzzy expert system, kidney stone disease with 63% certainty was the most probable, renal tubular was at the lowest level with 15%, and other kidney diseases were at the other levels. The most remarkable finding of this study was that results of kidney disease diagnosis (e.g., kidney stone) via fuzzy expert system were fully compatible with those of kidney physicians. Conclusion The proposed fuzzy expert system is a valid, reliable, and flexible instrument to diagnose several typical input cases. The developed system decreases the effort of initial physical checking and manual feeding of input symptoms. PMID:28392995

A computer-aided diagnostic system for kidney disease.

PubMed

Jahantigh, Farzad Firouzi; Malmir, Behnam; Avilaq, Behzad Aslani

2017-03-01

Disease diagnosis is complicated since patients may demonstrate similar symptoms but physician may diagnose different diseases. There are a few number of investigations aimed to create a fuzzy expert system, as a computer aided system for disease diagnosis. In this research, a cross-sectional descriptive study conducted in a kidney clinic in Tehran, Iran in 2012. Medical diagnosis fuzzy rules applied, and a set of symptoms related to the set of considered diseases defined. The input case to be diagnosed defined by assigning a fuzzy value to each symptom and then three physicians asked about each suspected diseases. Then comments of those three physicians summarized for each disease. The fuzzy inference applied to obtain a decision fuzzy set for each disease, and crisp decision values attained to determine the certainty of existence for each disease. Results indicated that, in the diagnosis of seven cases of kidney disease by examining 21 indicators using fuzzy expert system, kidney stone disease with 63% certainty was the most probable, renal tubular was at the lowest level with 15%, and other kidney diseases were at the other levels. The most remarkable finding of this study was that results of kidney disease diagnosis (e.g., kidney stone) via fuzzy expert system were fully compatible with those of kidney physicians. The proposed fuzzy expert system is a valid, reliable, and flexible instrument to diagnose several typical input cases. The developed system decreases the effort of initial physical checking and manual feeding of input symptoms.

A Tale of Three Cases: Examining Accuracy, Efficiency, and Process Differences in Diagnosing Virtual Patient Cases

ERIC Educational Resources Information Center

Doleck, Tenzin; Jarrell, Amanda; Poitras, Eric G.; Chaouachi, Maher; Lajoie, Susanne P.

2016-01-01

Clinical reasoning is a central skill in diagnosing cases. However, diagnosing a clinical case poses several challenges that are inherent to solving multifaceted ill-structured problems. In particular, when solving such problems, the complexity stems from the existence of multiple paths to arriving at the correct solution (Lajoie, 2003). Moreover,…

Optic Neuropathy Associated with Primary Sjögren's Syndrome: A Case Series.

PubMed

Bak, Eunoo; Yang, Hee Kyung; Hwang, Jeong-Min

2017-04-01

To determine the diverse clinical features of optic neuropathy associated with primary Sjögren's syndrome in Korean patients. Five women with acute and/or chronic optic neuropathy who were diagnosed as primary Sjögren's syndrome were retrospectively evaluated. Primary Sjögren's syndrome was diagnosed by signs and symptoms of keratoconjunctivitis sicca, positive serum anti-Ro/SSA and/or anti-La/SSB antibodies, and/or minor salivary gland biopsy. All patients underwent a complete ophthalmologic examination. Among the five patients diagnosed as optic neuropathy related to primary Sjögren's syndrome, four patients had bilateral optic neuropathy and one patient was unilateral. The clinical course was chronic in three patients and one of them showed acute exacerbation and was finally diagnosed with neuromyelitis optica spectrum disorder. The other two patients presented as acute optic neuritis and one was diagnosed with neuromyelitis optica spectrum disorder. Sicca symptoms were present in four patients, but only two patients reported these symptoms before the onset of optic neuropathy. Patients showed minimal response to systemic corticosteroids or steroid dependence, requiring plasmapheresis in the acute phase and immunosuppressive agents for maintenance therapy. Optic neuropathy associated with primary Sjögren's syndrome may show variable clinical courses, including acute optic neuritis, insidious progression of chronic optic atrophy, or in the context of neuromyelitis optica spectrum disorders. Optic neuropathy may be the initial manifestation of primary Sjögren's syndrome without apparent sicca symptoms, which makes the diagnosis often difficult. The presence of specific antibodies including anti-Ro/SSA, anti-La/SSB, and anti-aquaporin-4 antibodies are supportive for the diagnosis and treatment in atypical cases of optic neuropathy.

Conservative Treatment of Subacute Proximal Hamstring Tendinopathy Using Eccentric Exercises Performed With a Treadmill: A Case Report

PubMed Central

CUSHMAN, DANIEL; RHO, MONICA E.

2015-01-01

STUDY DESIGN Case report. BACKGROUND Proximal hamstring tendinopathy in runners is characterized by pain with passive hip flexion with the knee extended, active hip extension, and pain with sitting. Relatively little literature exists on the condition, and publications on nonsurgical treatment protocols are even more scarce. Surgical intervention, which comprises the majority of literature for treatment of this condition, is an option for cases that fail to respond to nonsurgical treatment. CASE DESCRIPTION The patient was a 34-year-old, otherwise healthy male triathlete with unilateral proximal hamstring tendinopathy diagnosed by ultrasound, who had pain only with running and prolonged sitting. After he failed to respond to 4 weeks of eccentric knee flexion and lumbopelvic musculature strengthening exercises, an eccentric hip extensor strengthening program using a treadmill was initiated. This treadmill exercise was performed on a daily basis, in addition to a lumbopelvic musculature strengthening program. OUTCOMES The patient noted a decrease in pain within 2 weeks of initiating the new exercise, and was able to return to gradual running after 4 weeks and to speed training after 12 weeks. He returned to competition shortly thereafter and had no recurrence for 12 months after the initiation of therapy. His score on the Victorian Institute of Sport Assessment-proximal hamstring tendons improved from 23 on initial presentation to 83 at 12 weeks after the initiation of therapy. DISCUSSION We described the management of a triathlete with subacute proximal hamstring tendinopathy, who responded well to nonsurgical treatment using eccentric hip extension strengthening using a treadmill. LEVEL OF EVIDENCE Therapy, level 4. PMID:25996362

Cholelithiasis in a toddler with sickle cell disease.

PubMed

Schinasi, Dana Aronson; Mistry, Rakesh D; Mistry, Rakesh

2011-06-01

Cholelithiasis is rarely seen in toddlers and school-aged children, even in the setting of sickle cell anemia. In addition to more common etiologies, such as gastroenteritis, constipation, and urinary tract infection, the differential diagnoses of acute abdominal pain in young children with sickle cell disease include vaso-occlusive pain crisis and splenic sequestration. We describe a case of a toddler with sickle cell disease initially presenting with abdominal pain who was found to have symptomatic cholelithiasis.

Increasing likelihood of advanced pulmonary tuberculosis at initial diagnosis in a low-incidence US state.

PubMed

Yang, Z-H; Gorden, T; Liu, D-P; Mukasa, L; Patil, N; Bates, J H

2018-06-01

Arkansas, USA. To investigate the relationship between an increase in the proportion of cases with advanced disease at first diagnosis and the recently observed slowing of the decline in tuberculosis (TB) incidence in low-incidence US states. We conducted descriptive statistical analyses of de-identified surveillance data of 1246 culture-confirmed TB patients reported in Arkansas during 1996-2013. We then fitted stepwise, multivariate logistic regression models to identify predictors for advanced disease at diagnosis, defined as having either smear-positive sputum or lung cavitation. From 1996 to 2013, the proportion of new cases with positive sputum smear and cases with lung cavitation increased from 51.6% to 75% and from 37.7% to 50%, respectively. Patients diagnosed during 2006-2013 were more likely to have positive sputum smears (adjusted odds ratio [aOR] 2.55, 95%CI 1.95-3.35) or lung cavitation (aOR 1.49, 95%CI 1.14-1.95) than those diagnosed during 1996-2005. During 1996-2013, age 15-64 years and excessive alcohol use were predictive of positive sputum smear or lung cavitation. Measures to reduce the proportion of cases with advanced disease at first diagnosis may be helpful to achieve further decline in TB incidence in low-incidence settings.

Successful early romiplostim use in a case of severe immune thrombocytopenia with critical carotid arterial injury.

PubMed

Watanabe, Reiko; Tabayashi, Takayuki; Tomikawa, Tatsuki; Sagawa, Morihiko; Anan-Nemoto, Tomoe; Kimura, Yuta; Takahashi, Yasuyuki; Tokuhira, Michihide; Otaki, Satoshi; Oi, Hidenori; Sawano, Makoto; Sugiyama, Satoshi; Kizaki, Masahiro

2017-01-01

Thrombopoietin receptor (TPO-R) agonists have been shown to be effective in refractory chronic immune thrombocytopenia (ITP); however, their efficacy in patients under critical care is not known. We report the case of a female patient with a newly diagnosed ITP who experienced severe bleeding from an external wound. The patient was administered the standard treatments for ITP, which are high-dose intravenous immunoglobulin (IVIg) and corticosteroids. However, following failure of these treatments, we administered romiplostim on day 6 after the onset of ITP. On day 6 after the initiation of romiplostim, there was improvement in platelet count and bleeding tendency. We were subsequently able to perform a splenectomy successfully. The efficacy of TPO-R agonists in ITP has been reported in several situations, including before surgery in an ITP patient; however, the use of TPO-R for arterial bleeding with shock has not been reported. To our knowledge, the present article is a rare case report of the use of a TPO-R agonist in a patient with critical artery injury. Our data suggest that the early use of romiplostim is effective in emergency cases of newly diagnosed ITP with life-threatening bleeding, which is refractory to standard treatment.

Giant gastrointestinal stromal tumour of rare sarcomatoid epithelioid subtype: Case study and literature review

PubMed Central

Lech, Gustaw; Korcz, Wojciech; Kowalczyk, Emilia; Guzel, Tomasz; Radoch, Marcin; Krasnodębski, Ireneusz Wojciech

2015-01-01

Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the gastrointestinal tract, but they represent less than 3% of all gastrointestinal tract malignancies. This is a detailed case study of a 52-year-old male patient treated for very uncommon histological subtype of gastric GIST with atypical clinical presentation, asymptomatic progress and late diagnosis. The resected tumour, giant in diameters, was confirmed to represent the most rare histopathologic subtype of GISTs - sarcomatoid epithelioid GIST. We report this case and review the literature with a special focus on pathomorphological evaluation, biological aggressiveness and prognostic factors. To our knowledge this is the first report of giant GIST of very uncommon sarcomatoid epithelioid subtype. It is concluded that clinicians should pay attention to the fact that initial diagnosis may be delayed due to mildly asymptomatic and non-specific clinical presentation. Asymptomatic tumours diagnosed at a late stage, which is often the case, can be large on presentation. Prognosis for patients diagnosed with GIST depend on tumour size, mitotic rate, histopathologic subtype and tumour location. That is why early diagnosis and R0 resection, which is usually feasible and safe even in giant gastric sarcomatoid epithelioid subtype of GISTs, are the key factors for further treatment and good prognosis. PMID:25805949

Can Intensified Tuberculosis Case Finding Efforts at Nutrition Rehabilitation Centers Lead to Pediatric Case Detection in Bihar, India?

PubMed Central

Mishra, Bal Krishna; Moonan, Patrick K.; Nair, Sreenivas A.; Kumar, Ajay M. V.; Gandhi, Mohit P.; Mannan, Shamim

2016-01-01

Introduction Seven district-level Nutritional Rehabilitation Centres (NRCs) in Bihar, India provide clinical and nutritional care for children with severe acute malnutrition (SAM). Aim To assess whether intensified case finding (ICF) strategies at NRCs can lead to pediatric case detection among SAM children and link them to TB treatment under the Revised National Tuberculosis Control Programme (RNTCP). Materials and Methods A retrospective cohort study was conducted that included medical record reviews of SAM children registered for TB screening and RNTCP care during July–December 2012. Results Among 440 SAM children screened, 39 (8.8%) were diagnosed with TB. Among these, 34 (87%) initiated TB treatment and 18 (53%) were registered with the RNTCP. Of 16 children not registered under the RNTCP, nine (56%) weighed below six kilograms—the current weight requirement for receiving drugs under RNTCP. Conclusion ICF approaches are feasible at NRCs; however, screening for TB entails diagnostic challenges, especially among SAM children. However, only half of the children diagnosed with TB were treated by the RNTCP. More effort is needed to link this vulnerable population to TB services in addition to introducing child-friendly drug formulations for covering children weighing less than six kilograms. PMID:27066518

Insulin oedema in a child with newly diagnosed diabetes mellitus.

PubMed

Aravamudhan, Avinash; Gardner, Chris; Smith, Claire; Senniappan, Senthil

2014-05-01

Insulin oedema is a rare complication of insulin therapy for diabetes mellitus. It has been reported in type 1 diabetes mellitus, in poorly controlled type 2 diabetes mellitus following either the initiation or intensification of insulin therapy and in underweight patients on large doses of insulin. There are only a few case reports since it was first described in 1928, showing that it is an uncommon and probably an under-reported complication. The majority of those reports have been in the adult population. The generalised oedema tends to develop shortly after initiation or intensification of insulin therapy and resolves spontaneously within few weeks. We present one of the youngest patients reported in the literature, a 9-year-old boy who developed insulin oedema within few days of presenting with diabetic ketoacidosis. The case highlights the importance of recognising this generally transient and self-resolving complication and differentiating it from other serious causes of oedema.

[Clinical Efficacy of Alternate-Day S-1/Letrozole Combination Therapy for Advanced Breast Cancer with Gastric Metastasis--A Case Report].

PubMed

Nakayama, Ichiro; Muranishi, Yumi; Fujita, Yoko

2015-07-01

We report a case of Stage IV breast cancer in a 62-year-old woman who responded well to alternate-day S-1/letrozole combination therapy. She was admitted to our hospital because of appetite loss and vomiting, and was diagnosed with invasive lobular carcinoma (ER+/HER2-) with gastric metastasis. After gastrointestinal stenting was performed, we initiated oral administration of S-1 (100 mg/body) and letrozole (2.5 mg) as systemic therapy. To reduce adverse effects, we administered S-1 on alternate days. Computed tomography and endoscopic examination revealed that the patient has been showing partial response since 1 year after initiating treatment. Therefore, we conclude that alternate-day S-1/letrozole combination therapy could be an effective and sustainable treatment for advanced ER-positive, HER2-negative breast cancer.

Recurrent papillary craniopharyngioma with BRAF V600E mutation treated with dabrafenib: case report.

PubMed

Himes, Benjamin T; Ruff, Michael W; Van Gompel, Jaimie J; Park, Sean S; Galanis, Evanthia; Kaufmann, Timothy J; Uhm, Joon H

2018-04-27

The authors present the case of a man with a papillary craniopharyngioma, first diagnosed at 47 years of age, who experienced multiple recurrences. Review of the pathologic specimen from his first resection demonstrated the BRAF V600E mutation. With his most recent recurrence following previous surgery and radiotherapy, at 52 years of age, the decision was made to initiate treatment with the BRAF V600E inhibitor dabrafenib. Imaging following initiation of dabrafenib demonstrated reduction in tumor size. He remained on dabrafenib therapy for approximately 1 year and continued to demonstrate a good clinical result. At that time the decision was made to discontinue dabrafenib therapy and follow up with serial imaging. After more than 1 year of follow-up since stopping dabrafenib, the patient has continued to do well with no radiographic evidence of tumor progression and continues to be monitored with frequent interval imaging.

Primary synovial sarcoma of the thyroid with locally repeated relapses in short periods: A case report

PubMed Central

SHI, RONG-LIANG; QU, NING; GAO, LI-LI; LU, ZHONG-WU; SUN, GUO-HUA; JI, QING-HAI

2016-01-01

The primary occurrence of synovial sarcoma (SS) in the thyroid is quite rare. As other SS arise from the head and neck structure, it tends to present poor biological behaviors and is generally treated as a high-grade sarcoma. The present study reports the case of a 31-year-old male who presented a neck mass, involving the thyroid, as shown by ultrasonography. The tumor was resected by total thyroidectomy and diagnosed as SS by histopathology. However, the initial surgery was considered as incomplete (R2) and no adjuvant protocol was followed. At the follow-up, neck recurrences within local lymph nodes were found repeatedly. The tumor grade increased for the metastatic lesions, indicating poorer differentiations with repeated relapses. The accurate evaluations of the primary tumor facilitated it to tailor the initial treatments, otherwise, the prognosis may be deteriorated by inappropriate management. PMID:27330751

A clinical report demonstrating the significance of distinguishing a nasopalatine duct cyst from a radicular cyst

PubMed Central

Aparna, Manikkath; Chakravarthy, Arumugam; Acharya, Shashi Rashmi; Radhakrishnan, Raghu

2014-01-01

Endodontic diagnosis is challenging and depends on the organisation of information from the patient history, clinical examination and analysis of the pulp, radiographic and histopathological assessment. A 35-year-old man was endodontically treated for radiolucency in relation to the roots of maxillary central incisors as it was a provisionally diagnosed case of radicular cyst. Since the palatal swelling persisted, the lesion was re-evaluated using relevant diagnostic aids and a diagnosis of nasopalatine duct cyst (NPDC) was made, which was missed during the initial assessment. An erroneous interpretation of cystic radiolucency in relation to maxillary central incisors can often lead to inappropriate treatment planning. This case highlights the relevant aspects in the diagnosis of NPDC when it is mistaken for a radicular cyst and emphasises the need for thorough clinical examination and relevant investigations for periapical radiolucencies of questionable origin before initiating endodontic therapy. PMID:24642171

Prevention of Tinea Corporis in Collegiate Wrestlers

PubMed Central

Hand, James W.; Wroble, Randall R.

1999-01-01

Objective: To examine the role of a comprehensive skin disease prevention protocol in conjunction with the use of a barrier cream to prevent tinea corporis (ringworm) in collegiate wrestlers. Design and Setting: We studied a college wrestling team for 16 weeks during 1 season. During the first 8 weeks, no preventive measures were taken. For the remaining 8 weeks, wrestlers were randomized into 2 groups and used either a barrier or a placebo. Subjects: Twenty-two male college wrestlers with a mean age of 20.4 years (range, 18.1 to 23.2), a mean weight of 68.4 kg (range, 55.8 to 130.2), and a mean height of 177.8 cm (range, 168.7 to 186.9). Measurements: We performed skin checks daily. All new or exacerbated lesions were clinically diagnosed by the same team physician and recorded. Results: Cases of tinea corporis declined from 10 diagnosed before initiation of the protocol to 1 after the protocol was initiated. One athlete in the placebo group was found to have tinea corporis versus none in the barrier cream group. Conclusions: Strict adherence to the prevention protocol for skin infections significantly decreased the number of cases of tinea corporis. The use of the barrier cream in conjunction with the prevention protocol did not result in any further statistical reduction in the number of wrestlers who contracted tinea corporis. PMID:16558587

Phenotypic characterization and genealogical tracing in an Afrikaner schizophrenia database.

PubMed

Karayiorgou, Maria; Torrington, Marie; Abecasis, Gonçalo R; Pretorius, Herman; Robertson, Brian; Kaliski, Sean; Lay, Stephen; Sobin, Christina; Möller, Natalie; Lundy, S Laura; Blundell, Maude L; Gogos, Joseph A; Roos, J Louw

2004-01-01

Founder populations hold tremendous promise for mapping genes for complex traits, as they offer less genetic and environmental heterogeneity and greater potential for genealogical research. Not all founder populations are equally valuable, however. The Afrikaner population meets several criteria that make it an ideal population for mapping complex traits, including founding by a small number of initial founders that likely allowed for a relatively restricted set of mutations and a large current population size that allows identification of a sufficient number of cases. Here, we examine the potential to conduct genealogical research in this population and present initial results indicating that accurate genealogical tracing for up to 17 generations is feasible. We also examine the clinical similarities of schizophrenia cases diagnosed in South Africa and those diagnosed in other, heterogeneous populations, specifically the US. We find that, with regard to basic sample descriptors and cardinal symptoms of disease, the two populations are equivalent. It is, therefore, likely that results from our genetic study of schizophrenia will be applicable to other populations. Based on the results presented here, the history and current size of the population, as well as our previous analysis addressing the extent of background linkage disequilibrium (LD) in the Afrikaners, we conclude that the Afrikaner population is likely an appropriate founder population to map genes for schizophrenia using both linkage and LD approaches. Copyright 2003 Wiley-Liss, Inc.

Bladder Tumor in Women with Microscopic Hematuria: An Iranian Experience and a Review of the Literature

PubMed Central

Abbaszadeh, Shahin; Taheri, Saeed; Nourbala, Mohammad Hossein

2009-01-01

Aim. In this study we report our experience with microhematuria and its relation with bladder tumors in Iranian women. Materials and Methods. Overall 249 women were evaluated. Microscopic hematuria was defined as three or more red blood cells per high-power field on at least two different occasions. Patients with a history of gross hematuria or coagulation disorders, having organic diseases, urinary stones, urinary tract infections, nephrological diseases, and local lesions such as urethral caruncle were excluded from the study population. Final diagnosis of malignant tumors was done with cystoscopy and biopsy specimen pathological assessment in all cases. Results. Age for the study population was 49.7 ± 11.8 years. 95 (38%) of patients were identified during routine check up and presenting symptoms in other patients were frequency, dysuria, stress urge incontinence, urge incontinence, feeling of incomplete urine emptying, and flunk pain, respectively. Finally, 7 (2.8%) of study subjects were confirmed as having bladder tumors. One of tumor cases was diagnosed 24 months after initial assessments. Patients with bladder tumor were significantly older; more frequently had diverticulum in their bladder wall (P < .05). Conclusion. Female microscopic hematuria is relevant and deserves evaluations, especially in elderly patients. Patients whose reason for microhematuria would not be diagnosed at the initial evaluations should be followed. PMID:19639044

Operating a sustainable disease management program for chronic obstructive pulmonary disease.

PubMed

Endicott, Linda; Corsello, Phillip; Prinzi, Michele; Tinkelman, David G; Schwartz, Abby

2003-01-01

Chronic obstructive pulmonary disease (COPD) is one of our nation's most rapidly growing chronic health conditions. It is estimated that over 16 million individuals are diagnosed with COPD (Friedman & Hilleman, 2001). In addition, another 16 million are misdiagnosed as asthma or not diagnosed at all. COPD is a condition that affects the working-age as well as the elderly. Despite the high mortality rate, COPD is a treatable and modifiable condition. Disease management programs (DMPs) for asthma are a common initiative within many health insurance plans and integrated delivery networks. Similar initiatives are not as common for COPD. This article will highlight the National Jewish Medical and Research Center's COPD DMP interventions and outcomes. To outline interventions and operational strategies critical in developing and operating a sustainable and effective disease management program for COPD. Disease Management is an effective model for managing individuals with COPD. Applying a case management model that includes (1) risk-identification and stratification; (2) education and empowerment regarding self-monitoring and management; (3) lifestyle modification; (4) communication and collaboration amongst patients, healthcare providers, and case managers to enhance the treatment plan; (5) providing after-hours support; and (6) monitoring care outcomes is crucial. Applying these interventions in a credible manner will improve the quality of life and quality of care delivered to individuals with mild, moderate, severe, and very severe COPD. Additionally, these interventions can significantly reduce utilization events.

Mixed phenotype (T/B/myeloid) extramedullary blast crisis as an initial presentation of chronic myelogenous leukemia.

PubMed

Qing, Xin; Qing, Annie; Ji, Ping; French, Samuel W; Mason, Holli

2018-04-01

Chronic myelogenous leukemia (CML) is a myeloproliferative disorder characterized by the Philadelphia (Ph) chromosome generated by the reciprocal translocation t(9,22)(q34;q11). The natural progression of the disease follows a biphasic or triphasic course. Most cases of CML are diagnosed in the chronic phase. Extramedullary blast crisis rarely occurs during the course of CML, and is extremely rare as the initial presentation of CML. Here, we report the case of a 32-year-old female with enlarged neck lymph nodes and fatigue. She was diagnosed with B-lymphoblastic leukemia/lymphoma with possible mixed phenotype (B/myeloid) by right neck lymph node biopsy at an outside hospital. However, review of her peripheral blood smear and her bone marrow aspirate and biopsy showed features consistent with CML, which was confirmed by PCR and karyotyping. An ultrasound-guided right cervical lymph node core biopsy showed a diffuse infiltrate of blasts, near totally replacing the normal lymph node tissue, admixed with some hematopoietic cells including megakaryocytes, erythroid precursors and maturing myeloid cells. By flow cytometry and immunohistochemistry, the blasts expressed CD2, cytoplasmic CD3, CD5, CD7, CD56, TdT, CD10 (weak, subset), CD19 (subset), CD79a, PAX-5 (subset), CD34, CD38, CD117 (subset), HLA-DR (subset), CD11b, CD13 (subset), CD33 (subset), and weak cytoplasmic myeloperoxidase, without co-expression of surface CD3, CD4, CD8, CD20, CD22, CD14, CD15, CD16 and CD64, consistent with blasts with mixed phenotype (T/B/myeloid). A diagnosis of extramedullary blast crisis of CML was made. Chromosomal analysis performed on the lymph node biopsy tissue revealed multiple numerical and structural abnormalities including the Ph chromosome (46-49,XX,add(1)(p34),add(3)(p25),add(5)(q13),-6,t(9;22)(q34;q11.2),+10,-15,add(17)(p11.2),+19, +der(22)t(9;22),+mar[cp8]). After completion of one cycle of combined chemotherapy plus dasatinib treatment, she was transferred to City of Hope National Cancer Institute for bone marrow transplantation. Diagnosis of extramedullary blast crisis should be suspected in patients with leukocytosis and extramedullary blast proliferation. In this case study, we diagnosed extramedullary blast crisis accompanied by chronic phase of CML in the bone marrow. To our knowledge, this is the first reported case of extramedullary blast crisis as the initial presentation of CML with T/B/myeloid mixed phenotype. Other unusual features associated with this case are also discussed. Copyright © 2018 Elsevier Inc. All rights reserved.

Diagnosis is a team sport - partnering with allied health professionals to reduce diagnostic errors: A case study on the role of a vestibular therapist in diagnosing dizziness.

PubMed

Thomas, Dana B; Newman-Toker, David E

2016-06-01

Diagnostic errors are the most common, most costly, and most catastrophic of medical errors. Interdisciplinary teamwork has been shown to reduce harm from therapeutic errors, but sociocultural barriers may impact the engagement of allied health professionals (AHPs) in the diagnostic process. A qualitative case study of the experience at a single institution around involvement of an AHP in the diagnostic process for acute dizziness and vertigo. We detail five diagnostic error cases in which the input of a physical therapist was central to correct diagnosis. We further describe evolution of the sociocultural milieu at the institution as relates to AHP engagement in diagnosis. Five patients with acute vestibular symptoms were initially misdiagnosed by physicians and then correctly diagnosed based on input from a vestibular physical therapist. These included missed labyrinthine concussion and post-traumatic benign paroxysmal positional vertigo (BPPV); BPPV called gastroenteritis; BPPV called stroke; stroke called BPPV; and multiple sclerosis called BPPV. As a consequence of surfacing these diagnostic errors, initial resistance to physical therapy input to aid medical diagnosis has gradually declined, creating a more collaborative environment for 'team diagnosis' of patients with dizziness and vertigo at the institution. Barriers to AHP engagement in 'team diagnosis' include sociocultural norms that establish medical diagnosis as something reserved only for physicians. Drawing attention to the valuable diagnostic contributions of AHPs may help facilitate cultural change. Future studies should seek to measure diagnostic safety culture and then implement proven strategies to breakdown sociocultural barriers that inhibit effective teamwork and transdisciplinary diagnosis.

Centripetal Propagation of Vasoconstriction at the Time of Headache Resolution in Patients with Reversible Cerebral Vasoconstriction Syndrome.

PubMed

Shimoda, M; Oda, S; Hirayama, A; Imai, M; Komatsu, F; Hoshikawa, K; Shigematsu, H; Nishiyama, J; Osada, T

2016-09-01

Reversible cerebral vasoconstriction syndrome is characterized by thunderclap headache and diffuse segmental vasoconstriction that resolves spontaneously within 3 months. Previous reports have proposed that vasoconstriction first involves small distal arteries and then progresses toward major vessels at the time of thunderclap headache remission. The purpose of this study was to confirm centripetal propagation of vasoconstriction on MRA at the time of thunderclap headache remission compared with MRA at the time of reversible cerebral vasoconstriction syndrome onset. Of the 39 patients diagnosed with reversible cerebral vasoconstriction syndrome at our hospital during the study period, participants comprised the 16 patients who underwent MR imaging, including MRA, within 72 hours of reversible cerebral vasoconstriction syndrome onset (initial MRA) and within 48 hours of thunderclap headache remission. In 14 of the 16 patients (87.5%), centripetal propagation of vasoconstriction occurred from the initial MRA to remission of thunderclap headache, with typical segmental vasoconstriction of major vessels. These mainly involved the M1 portion of the MCA (10 cases), P1 portion of the posterior cerebral artery (10 cases), and A1 portion of the anterior cerebral artery (5 cases). This study found evidence of centripetal propagation of vasoconstriction on MRA obtained at the time of thunderclap headache remission, compared with MRA obtained at the time of reversible cerebral vasoconstriction syndrome onset. If clinicians remain unsure of the diagnosis during early-stage reversible cerebral vasoconstriction syndrome, this time point represents the best opportunity to diagnose reversible cerebral vasoconstriction syndrome with confidence. © 2016 by American Journal of Neuroradiology.

Chronic mandibular osteomyelitis with suspected underlying synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: a case report

PubMed Central

Mochizuki, Yumi; Omura, Ken; Hirai, Hideaki; Kugimoto, Takuma; Osako, Toshimitu; Taguchi, Takahide

2012-01-01

Chronic mandibular osteomyelitis is an intractable disease. In recent years, some case reports have related this disease process to synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, which is chronic with frequent remissions and exacerbations. This report describes a case of chronic mandibular osteomyelitis suspected to be SAPHO syndrome. A 68-year-old woman presented with pain on the left side of the mandible. On the basis of clinical and radiological findings, chronic mandibular diffuse sclerosing osteomyelitis was initially diagnosed. We administrated oral clarithromycin (400 mg daily) and levofloxacin (500 mg daily), and her pain subsequently resolved. On 99mTc-labeled methylene diphosphonate scintigraphy, tracer uptake in the asymptomatic mandible was unchanged, but there was increasing tracer uptake in the sternocostal and sternoclavicular joints, compared with 99mTc-labeled methylene diphosphonate scintigraphic findings of the first visit. We diagnosed SAPHO syndrome and administrated oral sodium risedronate hydrate (2.5 mg daily). Although there has been no pain or swelling in the area of the left mandibular lesion, we have followed up on other skin and osteoarticular manifestations in conjunction with other medical departments. PMID:22427727

"A" motor neuron disease.

PubMed

Vishnu, Venugopalan Y; Modi, Manish; Prabhakar, Sudesh; Bhansali, Anil; Goyal, Manoj Kumar

2014-01-15

Allgrove syndrome is a rare autosomal recessive disorder characterised by achalasia, alacrima, adrenal insufficiency, autonomic dysfunction and amyotrophy. The syndrome has been described in childhood and adult presentation, as in our case, is very rare. There is a considerable delay in diagnosis due to lack of awareness about the syndrome. We report a single case of a 36 year old man who was initially diagnosed and treated for achalasia cardia in our institute 14 years before. After 8 years he presented again with weakness and wasting predominantly distally. He had tongue fasciculations, brisk reflexes and extensor plantar. After supportive electrophysiological studies he was diagnosed as Amyotrophic lateral sclerosis. After 5 years he presented with generalised fatigue without any significant worsening of his neurological status. On reevaluation he had alacrimia, autonomic dysfunction and mild ACTH resistance. Allgrove syndrome may be an underdiagnosed cause of multisystem neurological disease due to the heterogeneous clinical presentation as well as for ignorance of clinician about the syndrome. Based on our case, we also believe that there does exist a subgroup of patients who follow a less severe and chronic course. Recognition of syndrome allows for treatment of autonomic dysfunction, adrenal insufficiency and dysphagia. © 2013.

Adult-onset systemic Langerhans cell histiocytosis mimicking inflammatory bowel disease: the value of skin biopsy and review of cases of Langerhans cell histiocytosis with cutaneous involvement seen at the Mayo Clinic.

PubMed

Podjasek, Joshua O; Loftus, Conor G; Smyrk, Thomas C; Wieland, Carilyn N

2014-03-01

Langerhans cell histiocytosis (LCH) is frequently known to involve multiple organ systems. However, gastrointestinal involvement by LCH is rare. We describe a 68-year-old woman with a 3-year history of intermittent diarrhea initially diagnosed as inflammatory bowel disease. She was subsequently found to have systemic LCH with involvement of the gastrointestinal tract, lungs, liver, and skin after skin biopsy was performed. A retrospective review of patients with cutaneous involvement of LCH seen at the Mayo Clinic over the past 15 years was conducted. The presence of systemic disease as well as specific organ system involvement was reviewed. Twenty-four patients with cutaneous LCH were identified. Besides our case, one other patient with both gastrointestinal and cutaneous involvement was identified. This patient died at six months of age. No other adult-onset cases were identified. Gastrointestinal involvement with LCH is rare, can be easily misdiagnosed, and likely portends a poor prognosis. In patients with ill-defined systemic symptoms, cutaneous exam and biopsy have the potential to diagnose systemic disease. © 2013 The International Society of Dermatology.

Trigeminal neuralgia and chiropractic care: a case report

PubMed Central

Rodine, Robert J; Aker, Peter

2010-01-01

The following case describes a 68 year-old woman with a 7½ year history of worsening head and neck pain diagnosed as trigeminal neuralgia following surgical resection of a brain tumor. After years of unsuccessful management with medication and physical therapies, a therapeutic trial of chiropractic was carried out. Chiropractic care included ultrasound, manual therapies (manipulation and mobilization), soft tissue therapies, and home stretching exercises. After an initial treatment period followed by 18 months of supportive care the patient reported satisfactory improvement. It became evident that there were at least three sources of her symptoms: mechanical and/or degenerative neck pain, temporomandibular joint syndrome, and trigeminal neuralgia. While never completely pain-free, the patient continued to report that her pains reduced to minimal at times. At the most recent follow-up, the pain had not returned to pre-treatment intractable levels. This case study demonstrates the importance of diagnosing and treating multiple sources of pain and the positive role chiropractic care can have in the management of patients with these clinical conditions. The potential for convergence of sensory input from the upper three cervical segments and the trigeminal nerve via the trigeminocervical nucleus is discussed. PMID:20808617

[Primary breast lymphoma: a clinical, pathological and immunophenotypic study of eight cases].

PubMed

Ying, Jianming; Feng, Xiaoli; Liu, Xiuyun; Xie, Yongqiang; Sun, Yuntian

2002-12-01

To study the clinical, pathological and immunophenotypic characteristics of the primary breast lymphoma (PBL). Analyses of clinical history, preoperative findings, histological and immunohistochemical features of eight patients with PBL were performed. Malignant lymphoma was difficult to diagnose preoperatively. All patients were women. The age range was from 34 approximately 65 years (mean 46.4 years). The right breast was involved initially in three patients, the left in four. One patient presented bilateral involvement. Seven patients were assessed at stage IE, one with ipsolateral axillary lymph nodes involvement at stage IIE. According to the WHO classification, five patients were diagnosed as diffuse large B-cell lymphoma (4/5 centroblast, 1/5 immunoblast); the other three patients as MALT lymphoma, all with lymphoepithelial lesions. The paraffin-embedded tissues of all cases showed immunoreactivity for B-cell markers CD20, CD45RA. CD5 and CD10 were negative in all cases. Follow-up data were obtained in six patients, none recurred or died within 8 to 108 months after diagnosis. This study indicates that most PBL are diffuse large B-cell lymphoma and MALT lymphoma and have a better prognosis after comprehensive therapy.

Antithyroid Arthritis Syndrome: A Case Report and Review of the Literature

PubMed Central

Takaya, Kazuhiko; Kimura, Natsumi; Hiyoshi, Toru

2016-01-01

We herein report the case of a 38-year-old Japanese woman with antithyroid arthritis syndrome who experienced severe migratory polyarthritis after the initiation of thiamazole therapy. The patient's symptoms promptly disappeared without any sequelae after the withdrawal of the drug. Antithyroid arthritis syndrome is poorly characterized, and the findings from our literature review indicate that this syndrome exhibits serological features that are distinct from those of antithyroid agent-induced vasculitis syndrome. The absence of autoantibodies, especially anti-neutrophil cytoplasmic antibodies, may help characterize and diagnose antithyroid arthritis syndrome. Furthermore, physicians' awareness of this syndrome is essential for its diagnosis in clinical practice. PMID:27980264

Addison's disease presenting with perimyocarditis.

PubMed

Baranski Lamback, Elisa; Morandi, Grazia; Rapti, Eleni; Christov, Georgi; Brogan, Paul A; Hindmarsh, Peter

2018-01-26

Polyglandular autoimmune syndrome (PGA) and eosinophilic granulomatosis with polyangiitis (EGPA) do not seem to represent a coincidental association. A case of a 15-year-old boy is reported who presented with severe systemic inflammation, perimyocarditis and cardiogenic shock, in whom EGPA was initially suspected and later diagnosed with autoimmune adrenalitis with PGA. The severity of the systemic inflammation and perimyocarditis suggests a more widespread autoimmune-mediated process. Autoimmune adrenal insufficiency should be considered in all cases of pericarditis and perimyocarditis, especially when the severity of clinical manifestations exceeds the expected for the severity of the cardiac findings, as timely identification and prompt treatment may be life-saving.

KILT (Kidney and IVC Abnormalities with Leg Thrombosis) Syndrome in a 41-Years-Old Man with Loin Pain and Fever.

PubMed

Fung, James Kiujing; Yeung, Victor Hip Wo; Chu, Sau Kwan; Man, Chi Wan

2017-05-01

KILT syndrome is a rare condition composing the triad of kidney and inferior vena cava anomaly and extensive venous thrombosis. We present a case of newly diagnosed KILT syndrome in a 41-years-old gentleman presenting with loin pain and fever. Reviewing previous case reports, KILT syndrome is usually an incidental finding on imaging studies and there is a wide scope of initial clinical presentations. However, recent evidence suggests IVC anomaly may have caused subsequent renal hypoplasia. Identification of the underlying etiology may be helpful in planning early vascular intervention to treat the condition.

A case series of patients diagnosed with orofacial granulomatosis presenting primarily with dense infiltrates and severe periorbital edema.

PubMed

Sabet-Peyman, Esfandiar J; Woodward, Julie A

2014-01-01

Orofacial granulomatosis is a relapsing nonnecrotizing granulomatous syndrome that classically presents with lip and perioral swelling. Over the years, several patients have been referred to the Duke Eye Center Oculoplastics Department for severe, progressive, recurrent eyelid swelling interfering with both their functional vision and their appearance. In this IRB approved retrospective case series, we describe the clinical course of 5 such patients, including their presenting symptoms, diagnosis, and response to treatment. We hope that oculoplastics specialists will consider this entity in the differential diagnosis of periorbital edema and consider initiating localized anti-inflammatory treatment once the diagnosis has been made.

Fat Embolism Syndrome: A Case Report and Review Literature

PubMed Central

Uransilp, Nattaphol

2018-01-01

Fat embolism syndrome (FES) is a life-threatening complication in patients with orthopedic trauma, especially long bone fractures. The diagnosis of fat embolism is made by clinical features alone with no specific laboratory findings. FES has no specific treatment and requires supportive care, although it can be prevented by early fixation of bone fractures. Here, we report a case of FES in a patient with right femoral neck fracture, which was diagnosed initially by Gurd's criteria and subsequently confirmed by typical appearances on magnetic resonance imaging (MRI) of the brain. The patient received supportive management and a short course of intravenous methylprednisolone. PMID:29853905

Use of polymerase chain reaction (PCR) in the diagnosis of congenital toxoplasmosis.

PubMed

Loveridge-Easther, Cam; Yardley, Anne-Marie; Breidenstein, Brenda

2018-06-01

Congenital toxoplasmosis (CT) is a parasitic disease that causes serious fetal and neonatal harm or death. In countries that do not have antenatal screening programs, the initiation of CT treatment relies on a postnatal diagnosis. Until recently, diagnosis was based on clinical signs and immunoglobulin seropositivity, which is fraught with difficulty. In these cases, diagnosis was often delayed or treatment, which carries risk, started empirically. We highlight the use of polymerase chain reaction to diagnose a case of congenital toxoplasmosis, allowing early treatment and justifying the treatment burden. Copyright © 2018 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Delays before Diagnosis and Initiation of Treatment in Patients Presenting to Mental Health Services with Bipolar Disorder.

PubMed

Patel, Rashmi; Shetty, Hitesh; Jackson, Richard; Broadbent, Matthew; Stewart, Robert; Boydell, Jane; McGuire, Philip; Taylor, Matthew

2015-01-01

Bipolar disorder is a significant cause of morbidity and mortality. Although existing treatments are effective, there is often a substantial delay before diagnosis and treatment initiation. We sought to investigate factors associated with the delay before diagnosis of bipolar disorder and the onset of treatment in secondary mental healthcare. Retrospective cohort study using anonymised electronic mental health record data from the South London and Maudsley NHS Foundation Trust (SLaM) Biomedical Research Centre (BRC) Case Register on 1364 adults diagnosed with bipolar disorder between 2007 and 2012. The following predictor variables were analysed in a multivariable Cox regression analysis: age, gender, ethnicity, compulsory admission to hospital under the UK Mental Health Act, marital status and other diagnoses prior to bipolar disorder. The outcomes were time to recorded diagnosis from first presentation to specialist mental health services (the diagnostic delay), and time to the start of appropriate therapy (treatment delay). The median diagnostic delay was 62 days (interquartile range: 17-243) and median treatment delay was 31 days (4-122). Compulsory hospital admission was associated with a significant reduction in both diagnostic delay (hazard ratio 2.58, 95% CI 2.18-3.06) and treatment delay (4.40, 3.63-5.62). Prior diagnoses of other psychiatric disorders were associated with increased diagnostic delay, particularly alcohol (0.48, 0.33-0.41) and substance misuse disorders (0.44, 0.31-0.61). Prior diagnosis of schizophrenia and psychotic depression were associated with reduced treatment delay. Some individuals experience a significant delay in diagnosis and treatment of bipolar disorder after initiation of specialist mental healthcare, particularly those who have prior diagnoses of alcohol and substance misuse disorders. These findings highlight a need for further study on strategies to better identify underlying symptoms and offer appropriate treatment sooner in order to facilitate improved clinical outcomes, such as developing specialist early intervention services to identify and treat people with bipolar disorder.

Exertional compartment syndrome of the medial foot compartment--diagnosis and treatment: a case report.

PubMed

Izadi, Faye E; Richie, Douglas H

2014-07-01

Exertional compartment syndrome in the foot is rarely reported and often confused with plantar fasciitis as a cause of arch pain in the running athlete. We describe a case involving a 19-year-old competitive collegiate runner who developed a chronic case of bilateral medial arch pain during training, which was initially diagnosed as plantar fasciitis but failed to respond to conventional treatment. After symptoms began to suggest exertional compartment syndrome, the diagnosis was confirmed by measuring an elevated resting pressure in the medial compartment of both feet. The patient underwent a bilateral medial compartment fasciotomy, which allowed a full return to activity, and has remained pain free after a 1-year follow-up.

Gastric marginal zone lymphoma of mucosa-associated lymphoid tissue and signet ring cell carcinoma, synchronous collision tumour of the stomach: a case report.

PubMed

George, Smiley Annie; Junaid, T A

2014-01-01

To report a rare case of synchronous marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT) signet ring cell carcinoma occurring as a collision tumour in the stomach. A 53-year-old man was diagnosed initially with signet ring cell carcinoma of the stomach. The microscopy of the subsequent total gastrectomy revealed a collision tumour of MALT lymphoma and signet ring cell carcinoma associated with Helicobacter pylori gastritis. This case highlighted the importance of a careful evaluation of the accompanying lymphoid population in the biopsy samples of gastric adenocarcinoma and underlined the need for multiple endoscopic biopsies to detect these rare synchronous tumours. © 2013 S. Karger AG, Basel.

Gastric Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue and Signet Ring Cell Carcinoma, Synchronous Collision Tumour of the Stomach: A Case Report

PubMed Central

George, Smiley Annie; Junaid, T.A.

2014-01-01

Objective To report a rare case of synchronous marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT) signet ring cell carcinoma occurring as a collision tumour in the stomach. Clinical Presentation and Intervention A 53-year-old man was diagnosed initially with signet ring cell carcinoma of the stomach. The microscopy of the subsequent total gastrectomy revealed a collision tumour of MALT lymphoma and signet ring cell carcinoma associated with Helicobacter pylori gastritis. Conclusion This case highlighted the importance of a careful evaluation of the accompanying lymphoid population in the biopsy samples of gastric adenocarcinoma and underlined the need for multiple endoscopic biopsies to detect these rare synchronous tumours. PMID:24247357

Infant botulism: first two confirmed cases in Slovenia and literature review.

PubMed

Radšel, Anja; Andlovic, Alenka; Neubauer, David; Osredkar, Damjan

2013-11-01

In Europe, infant botulism is a rare but probably under-diagnosed disease. With the intent to spread the awareness of this potentially life-threatening disease, we present a review of the literature with the emphasis on European epidemiology and a practical approach to diagnosis. We also report the first two confirmed cases of infant botulism in Slovenia and describe our way to the final diagnosis in a clinical setting where all appropriate diagnostic tests and treatment options are not readily available. The second case is particularly interesting, presenting with profound diarrhea following initial constipation, an unlikely symptom for an infant with botulism and possibly caused by Bacteroides fragilis. Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Autopsy interrogation of emergency medicine dispute cases: how often are clinical diagnoses incorrect?

PubMed

Liu, Danyang; Gan, Rongchang; Zhang, Weidi; Wang, Wei; Saiyin, Hexige; Zeng, Wenjiao; Liu, Guoyuan

2018-01-01

Emergency medicine is a 'high risk' specialty. Some diseases develop suddenly and progress rapidly, and sudden unexpected deaths in the emergency department (ED) may cause medical disputes. We aimed to assess discrepancies between antemortem clinical diagnoses and postmortem autopsy findings concerning emergency medicine dispute cases and to figure out the most common major missed diagnoses. Clinical files and autopsy reports were retrospectively analysed and interpreted. Discrepancies between clinical diagnoses and autopsy diagnoses were evaluated using modified Goldman classification as major and minor discrepancy. The difference between diagnosis groups was compared with Pearson χ 2 test. Of the 117 cases included in this study, 71 of cases (58 class I and 13 class II diagnostic errors) were revealed as major discrepancies (60.7%). The most common major diagnoses were cardiovascular diseases (54 cases), followed by pulmonary diseases, infectious diseases and so on. The difference of major discrepancy between the diagnoses groups was significant (p<0.001). Aortic dissection and myocardial infarction were the most common cause of death (15 cases for each disease) and the most common missed class I diagnoses (80% and 66.7% for each), higher than the average 49.6% of all class I errors of the study patients. High major disparities between clinical diagnoses and postmortem examinations exist in emergency medical disputes cases; acute aortic dissection and myocardial infarction are the most frequently major missed diagnoses that ED clinicians should pay special attention to in practice. This study reaffirmed the necessity and usefulness of autopsy in auditing death in EDs. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Churg-Strauss syndrome: a new endotype of severe asthma? Results of 14 Turkish patients.

PubMed

Yılmaz, İnsu; Çelik, Gülfem; Aydın, Ömür; Özdemir, Seçil Kepil; Soyyiğit, Şadan; Sözener, Zeynep; Özgüçlü, Selcan; Atasoy, Çetin; Düzgün, Nurşen; Mungan, Dilşad; Sin, Betül; Demirel, Yavuz Selim; Mısırlıgil, Zeynep

2015-07-01

Churg-Strauss syndrome (CSS) is a rare multisystem vasculitis. Considering the variation of autoimmune diseases in different races, it is of interest to determine whether any outstanding features exist for Turkish patients with CSS. The aim of this study was to evaluate the clinical and serological features of the disease, the treatment, and long-term follow-up details, and to investigate possible etiological factors of Turkish CSS patients. The study included 14 patients who were diagnosed with CSS, and followed by our department between 2004 and 2012. Possible etiological factors, initial symptoms, clinical presentations, treatment, as well as outcomes were documented. The study was approved by the local ethics. All patients fulfilled the American College of Rheumatology criteria. Initial symptoms were worsening asthma (n = 14; 100%) and skin lesions (n = 6; 43%). All patients had a diagnosis of asthma and nasal polyps, whereas 57.1% had aspirin hypersensitivity at the time of diagnosis. The lungs (100%) and skin (43%) were most commonly involved. Peripheral eosinophilia dominated on initial presentations of all patients. Initial treatments included oral methyl prednisolone in all cases, whereas cyclophosphamide and azathioprine were used in three cases. Relapses were detected in five cases. None of the cases were able to stop the oral corticosteroid treatment. No fatalities were observed. We herein describe a new severe asthma endotype in connection with CSS. We suggest that physicians who deal with uncontrolled severe asthma cases should consider CSS in the presence of nasal polyps, aspirin hypersensitivity, and especially peripheral blood eosinophilia over 10%. © 2014 John Wiley & Sons Ltd.

A Rare Case of Phyllodes Tumor Metastasis to the Stomach Presenting as Anemia.

PubMed

Choi, Do Il; Chi, Ho Seok; Lee, Sang Ho; Kwon, Youngmee; Park, Seog Yun; Sim, Sung Hoon; Park, In Hae; Lee, Keun Seok

2017-07-01

Metastasis of a phyllodes tumor to the stomach is an extremely rare condition with important clinical implications. A 44-year-old woman was initially diagnosed with a phyllodes tumor in her right breast in 2008, and subsequently presented to an outpatient clinic with dizziness on December 16, 2013. We found that she had severe anemia (hemoglobin levels, 6.7 g/dL), and we quickly performed esophagogastroduodenoscopy to identify the cause. This procedure revealed large ulcerofungating masses with active bleeding in the stomach. Histopathological examination revealed that the masses were consistent with phyllodes tumor metastases. In patients with a metastatic phyllodes tumor presenting as anemia, gastric metastasis should be considered as one of the differential diagnoses because overlooking the possibility might have dire consequences if cytotoxic chemotherapy were administered.

[Numb chin syndrome as a sign of tumour recurrence].

PubMed

García-Lamazares, M; Ferreiro-Uriz, O; Alfaya-García, L

2014-03-01

Numb chin syndrome is characterized by anaesthesia or paraesthesia in the areas supplied by the chin nerve. It is a rare symptom which tends to be underestimated. Far from being insignificant, it should be taken as an indication of hidden malignant disease. In patients previously diagnosed with neoplasia, it is frequently associated with ominous diagnosis indicating rapid progression of the disease. This paper reports the case of a patient diagnosed with breast cancer 20 years earlier who presents chin numbness. Further tests confirm the suspicion of metastatic disease (meningeal carcinomatosis and multiple bone and pulmonary metastases) leading to death two months after the initial consultation. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

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.

Delayed Recognition of Thoracic and Lumbar Vertebral Compression Fractures in Minor Accident Cases.

PubMed

Hatgis, Jesse; Granville, Michelle; Jacobson, Robert E

2017-02-23

Osteoporotic vertebral compression fractures (VCFs) in the elderly are commonly diagnosed after a minor fall or trauma; however, the majority of these patients have either been previously evaluated for osteoporosis or are already under some form of medical treatment for osteoporosis at the time of the fall. Although accidents are a known cause of VCFs, these fractures are too often undiagnosed. In reviewing a group of patients seen after minor falls or automobile accidents who were complaining of general spine pain, we found a smaller subgroup with previously undiagnosed VCFs. These fractures were also the initial signs of a previously unrecognized osteoporotic process. Initial diagnosis, treatment, and therapy were usually focused on other spinal segments (i.e. mainly the lumbar spine) until both the VCF and the osteoporosis were identified. The purpose of this report is to raise awareness and discuss the steps for improved diagnosis of osteoporotic VCFs. A retrospective analysis was conducted on a large group of patients from one pain/accident clinic in a 24 month period. These patients were diagnosed with VCFs subsequent to the initial evaluation due to either persistent pain after conservative therapy or complaints of pain beyond the original injured area (i.e. typically the lumbar spine). At this point, a more detailed history was taken, including any past treatment for osteoporosis, or previous falls or injury to exclude the possibility of pre-existing fractures. A more focused examination of the painful area was completed, consisting of percussion at the fracture site identified on magnetic resonance imaging (MRI) or computed tomography (CT) scan. If possible, a bone scan was ordered to separate acute and subacute traumatic fractures from old/chronic fractures. Additionally, we surveyed two other similar pain/accident clinics who saw a comparable number and population of patients diagnosed with VCFs within a 24 month period to make a comparison of the number of VCFs they identified. Ten out of approximately 2700 patients seen over a 24 month period sustained acute thoracic or lumbar VCFs during a minor accident and were not previously diagnosed with osteoporosis. Since approximately 30% of the 2,700 patients had new accidents, 10 out of 800 new patients (1.25%) were found to have VCFs without a known history of osteoporosis. Two other surveyed pain/accident, clinics saw a similar number and population of patients in the same time period; however, each only diagnosed two or three VCFs while examining a similar number of patients in the clinic. In these two other clinics, a much lower percentage (0.3%) of patients were diagnosed with new VCFs. Awareness of the possibility of osteoporotic VCFs is the first step in detecting them. This study reveals the presence of a small but real risk of overlooking osteoporotic VCFs in minor trauma cases. When necessary, repeat or obtain better quality imaging in spinal segments affected by persistent pain. The thoracolumbar junction (i.e. T12 & L1 vertebrae) is especially at risk for sustaining VCFs. The delayed recognition of these VCFs and the patient's underlying osteoporosis after minor accident cases could present a major problem, as the critical time for patients to receive the proper medical or surgical treatments responsible for correcting and preventing further spinal deformity and pain has been reduced.

Fine-needle aspiration biopsy of the salivary gland: problem cases.

PubMed

MacLeod, C B; Frable, W J

1993-01-01

Among 582 fine-needle aspiration (FNA) biopsies of major and minor salivary glands performed between 1974 and 1990, lack of cytological histologic correlation was noted in 21 cases. Of these, the cause in 10 FNAs was inadequate cytological sampling of the lesion. [One case of malignant hemangiopericytoma was tentatively diagnosed as a monomorphic adenoma on FNA, a polymorphic T-cell lymphoma was diagnosed as granulomatous inflammation on aspiration biopsy, a benign lymphoepithelial lesion was diagnosed as a reactive lymph node, a branchial cleft cyst was called benign mixed tumor (BMT), one case of chronic sialoadenitis was called BMT by FNA, two cases of benign lymphoepithelial lesion (BLEL) were diagnosed as cystic Warthin's tumor, two low-grade mucoepidermoid carcinomas were called BMT, and a BMT was cytologically diagnosed as a Warthin's tumor with squamous metaplasia versus low-grade mucoepidermoid carcinoma. One case of low-grade mucoepidermoid carcinoma was diagnosed only as a "cyst."] Review of these cases identifies constant features that permit differentiation between Warthin's tumor and BLEL, and among BMT, mucoepidermoid carcinoma, and chronic sialoadenitis. Despite a few problem cases, FNA of the salivary gland is accurate in the preoperative diagnosis and classification of salivary gland neoplasms.

Malpractice suits in chest radiology: an evaluation of the histories of 8265 radiologists.

PubMed

Baker, Stephen R; Patel, Ronak H; Yang, Lily; Lelkes, Valdis M; Castro, Alejandro

2013-11-01

The aim of this study was to present rates of claims, causes of error, percentage of cases resulting in a judgment, and average payments made by radiologists in chest-related malpractice cases in a survey of 8265 radiologists. The malpractice histories of 8265 radiologists were evaluated from the credentialing files of One-Call Medical Inc., a preferred provider organization for computed tomography/magnetic resonance imaging in workers' compensation cases. Of the 8265 radiologists, 2680 (32.4%) had at least 1 malpractice suit. Of those who were sued, the rate of claims was 55.1 per 1000 person years. The rate of thorax-related suits was 6.6 claims per 1000 radiology practice years (95% confidence interval, 6.0-7.2). There were 496 suits encompassing 48 different causes. Errors in diagnosis comprised 78.0% of the causes. Failure to diagnose lung cancer was by far the most frequent diagnostic error, representing 211 cases or 42.5%. Of the 496 cases, an outcome was known in 417. Sixty-one percent of these were settled in favor of the plaintiff, with a mean payment of $277,230 (95% confidence interval, 226,967-338,614). Errors in diagnosis, and among them failure to diagnose lung cancer, were by far the most common reasons for initiating a malpractice suit against radiologists related to the thorax and its contents.

[HIV/AIDS related mortality in southern Shanxi province and its risk factors].

PubMed

Ning, Shaoping; Xue, Zidong; Wei, Jun; Mu, Shengcai; Xu, Yajuan; Jia, Shaoxian; Qiu, Chao; Xu, Jianqing

2015-03-01

To explore factors influencing mortality rate of HIV/AIDS and to improve the effectiveness of antiretroviral therapy (ART). By means of retrospective cohort study and the AIDS control information system, HIV/AIDS case reports and antiviral treatment information of 4 cities in southern Shanxi province up to end of December 2012 were selected, to calculate the mortality rate and treatment coverage based on further data collected, along with analysis using the Cox proportional hazards survival regression. 4 040 cases confirmed of HIV/AIDS were included in this study. The average age was (36.0 ± 12.9) years, with 65.3% being male, 56.5% being married, 73.5% having junior high school education or lower, 58.4% being peasants, 54.3% with sexually transmitted infection (40.1% were heterosexual, 14.2% were homosexual), and 38.9% were infected via blood transmission (20.2% were former plasma donors, 16.2% blood transfusion or products recipients, 2.4% were injection drug users). Overall mortality decreased from 40.2 per 100 person/year in 2004 to 6.3 per 100 person/year in 2012, with treatment coverage concomitantly increasing from almost 14.8% to 63.4%. Cox proportional hazards survival regression was used on 4 040 qualified cases, demonstrating the top mortality risk factor was without antiretroviral therapy (RR = 14.9, 95% CI: 12.7-17.4). Cox proportional hazards survival regression was made on 1 938 cases of antiviral treatment, demonstrating that the mortality risk of underweight or obese before treatment was higher than those of normal and overweight cases (RR = 2.7, 95% CI: 1.6-4.5), and the mortality of those having a CD4(+) T-lymphocyte count ≤ 50 cells per µl before treatment was more than 50 cases (RR = 2.6, 95% CI: 1.5-4.5); Cox proportional hazards survival regression was made on 2 102 cases of untreated cases, demonstrating the mortality risk of those initially diagnosed as AIDS was higher than those initially diagnosed as HIV (RR = 3.4, 95% CI: 2.9-4.0). The ART could successfully make lower HIV/AIDS mortality rate, indicating effective ART can further decrease mortality.

Diagnosis and management of polycystic ovary syndrome in the UK (2004–2014): a retrospective cohort study

PubMed Central

Ding, Tao; Baio, Gianluca; Hardiman, Paul J; Petersen, Irene; Sammon, Cormac

2016-01-01

Objective To estimate the incidence and prevalence of polycystic ovary syndrome (PCOS) in UK primary care and investigate prescribing patterns before and after a PCOS diagnosis. Design Retrospective cohort study. Setting UK primary care (2004–2014). Participants Women aged 15–45 years. Primary and secondary outcome measures The incidence and prevalence of diagnosed PCOS and probable PCOS (ie, those without a confirmed diagnosis but with at least 2 PCOS features recorded within 3 years). Among women with diagnosed or probable PCOS, the prevalence of prescribing of drugs typically used to treat PCOS was calculated prior to and in the 24 months after the diagnosis of PCOS. Results We identified 7233 women with PCOS diagnoses and 7057 women with records suggestive of probable PCOS, corresponding to incidence rates of 0.93 and 0.91 per 1000 person-years at risk (PYAR) and an overall rate of 1.84 per 1000 PYAR. Women aged 20–24 years and women living in deprived areas had the highest incidence of PCOS. The prevalence of PCOS in 2014 was ∼2%. The proportion of women with a prescription in the 24 months after their PCOS index date varied by drug type: 10.2% metformin, 15.2% combined oral contraceptives, 18.8% acne-related treatments, 1.93% clomiphene, 1.0% spironolactone, 0.28% cyproterone and 3.11% eflornithine. Acne-related treatments were more commonly used to treat probable (28.3%) than diagnosed (12.3%) cases, while metformin was prescribed much more commonly in diagnosed cases. Conclusions In conclusion, compared to rates estimated in community samples, the incidence and prevalence of women presenting in primary care with PCOS diagnoses and features are low, indicating that PCOS is an under-recognised condition. Although considerable variation is observed in treatments prescribed to women with PCOS, the treatments initiated following a confirmed diagnosis generally reflect the long-term prognostic concerns raised in PCOS consensuses. PMID:27401369

Improving Quality Metric Adherence to Minimally Invasive Breast Biopsy among Surgeons Within a Multihospital Health Care System.

PubMed

Tjoe, Judy A; Greer, Danielle M; Ihde, Sue E; Bares, Diane A; Mikkelson, Wendy M; Weese, James L

2015-09-01

Minimally invasive breast biopsy (MIBB) is the procedure of choice for diagnosing breast lesions indeterminate for malignancy. Multihospital health care systems face challenges achieving systemwide adherence to standardized guidelines among surgeons with varying practice patterns. This study tested whether providing individual feedback about surgeons' use of MIBB to diagnose breast malignancies improved quality metric adherence across a large health care organization. We conducted a prospective matched-pairs study to test differences (or lack of agreement) between periods before and after intervention. All analytical cases of primary breast cancer diagnosed during 2011 (period 1) and from July 2012 to June 2013 (period 2) across a multihospital health care system were reviewed for initial diagnosis by MIBB or open surgical biopsy. Open surgical biopsy was considered appropriate care only if MIBB could not be performed for reasons listed in the American Society of Breast Surgeons' quality measure for preoperative diagnosis of breast cancer. Individual and systemwide results of adherence to the MIBB metric during period 1 were sent to each surgeon in June 2012 and were later compared with period 2 results using McNemar's test of marginal homogeneity for matched binary responses. Forty-six surgeons were evaluated on use of MIBB to diagnose breast cancer. In period 1, metric adherence for 100% of cases was achieved by 37 surgeons, for a systemwide 100% compliance rate of 80.4%. After notification of individual performance, 44 of 46 surgeons used MIBB solely or otherwise appropriate care to diagnose breast cancer, which improved systemwide compliance to 95.7%. Providing individual and systemwide performance results to surgeons can increase self-awareness of practice patterns when diagnosing breast cancer, leading to standardized best-practice care across a large health care organization. Copyright © 2015 American College of Surgeons. Published by Elsevier Inc. All rights reserved.

[Five cases of severe radiation pneumonitis after chemoradiotherapy for esophageal cancer].

PubMed

Sakurai, Katsunobu; Kubo, Naoshi; Shibutani, Masatsune; Yamazoe, Sadaaki; Kimura, Kenjiro; Nagahara, Hisashi; Toyokawa, Takahiro; Amano, Ryosuke; Tanaka, Hiroaki; Muguruma, Kazuya; Ohtani, Hiroshi; Yashiro, Masakazu; Maeda, Kiyoshi; Ohira, Masaichi; Hirakawa, Kosei

2013-11-01

Chemoradiotherapy( CRT) for esophageal cancer is a useful modality for both locally advanced and resectable cases. Among adverse events related to CRT, radiation pneumonitis( RP) requires special attention because it has been shown to be occasionally associated with a worse acute prognosis. We report 5 cases of severe RP after CRT. All patients were male, and their mean age was 72 years (range: 66-76 years). The clinical stage of esophageal cancer was I in 1 case, II in 2 cases, and IVa in 2 cases. The mean total radiation dose was 51.8 Gy (range: 43.4-61.4). Initial symptoms and first abnormal findings were a high fever in 4 cases and elevated serum C-reactive protein( CRP) levels in 1 case. No patients presented with respiratory symptoms, including dyspnea and coughing, as initial symptoms. All cases were diagnosed as RP by chest computed tomography examination, an average of 6.8 days after the completion of RT. Four patients required intensive care and were put on ventilator support. All patients received steroid pulse therapy. Two patients recovered from RP; however, 3 died( 1 attributable to multi-organ failure and 2 to respiratory failure). It is important to consider RP caused by CRT when patients present with high fever or elevated CRP levels after the completion of RT for esophageal cancer.

[A case of intragastric wall abscess formation during bevacizumab combined chemotherapy].

PubMed

Mori, Ayano; Kogawa, Takahiro; Arihara, Youhei; Abe, Masakazu; Tamura, Fumito; Abe, Seiichirou; Kukitsu, Takehiro; Ihara, Hideyuki; Sumiyoshi, Tetsuya; Yoshizaki, Naoto; Kondou, Hitoshi; Tsuji, Yasushi

2013-05-01

A 38-year-old man was given a diagnosis of as sigmoid colon cancer and underwent sigmoid colectomy. Post-operative pathological staging was stage IIIb. He then underwent adjuvant chemotherapy. One year and 4 months after the surgery, CT scans revealed multiple liver and lung metastases. He was given mFOLFOX6+bevacizumab, which was changed later to FOLFIRI+bevacizumab. After these chemotherapies, he was admitted to the hospital due to sudden abdominal pain and high grade fever. Obstructive jaundice was initially diagnosed, but detailed study of initial CT revealed intragastric wall abscess. After the drainage of the abscess, his conditions improved. We speculated that the abscess formation was caused by mucosal damage due to bevacizumab.

Regional epidemiological features of lip, oral cavity, and oropharyngeal cancer.

PubMed

Erisen, L; Basut, O; Tezel, I; Onart, S; Arat, M; Hizalan, I; Coskun, H

1996-01-01

Lip, oral cavity, and oropharyngeal cancer are among the most common forms of the disease in the world. These types of cancer display significant geographic, ethnic, and socioeconomic variations. We examined the cases of cancer of the lip, oral cavity, and oropharynx diagnosed in the Department of Otolaryngology at the University of Uludağ School of Medicine during the last 5 years, July 1990 to June 1995, and recorded the epidemiological features of these tumors. The Department of Otolaryngology treated a total of 26,225 in- and outpatients during the 5-year period. 320 of these patients (1.2%) were seen for head and neck cancer. 42 of the 320 patients (13.1%) were diagnosed with cancer of the lip, oral cavity, and oropharrynx. After the larynx, this was the second most frequent location of malignant head and neck tumors. We discovered the following epidemiological and pathological features: (1) The incident rate was highest in patients between 41 and 60 years of age. (2) 70% of the patients were male, and 76% of them had a history of tobacco/alcohol use. (3) Occupation had no apparent relevance (four of the patients were farmers). (4) Approximately one third of the patients had undergone medical therapy prior to diagnosis. (5) One third of the patients had initially seen a dentist for treatment, and approximately half had poor dental and oral hygiene. (6) The most frequent symptom was ulceration. (7) Histopathological examination revealed squamous cell carcinoma in 88% of the cases. (8) The cancer was localized to the lip in 31% of cases, oral cavity, 50%, and oropharynx, 19%. (9) Almost half of the cancer cases were diagnosed in advanced stage (stages III and IV).

Benign and Malignant Proliferative Fibro-osseous and Osseous Lesions of the Oral Cavity of Dogs.

PubMed

Soltero-Rivera, M; Engiles, J B; Reiter, A M; Reetz, J; Lewis, J R; Sánchez, M D

2015-09-01

Ossifying fibroma (OF) and fibrous dysplasia (FD) are benign, intraosseous, proliferative fibro-osseous lesions (PFOLs) characterized by replacement of normal bone by a fibrous matrix with various degrees of mineralization and ossification. Osteomas are benign tumors composed of mature, well-differentiated bone. Clinical, imaging, and histologic features of 15 initially diagnosed benign PFOLs and osteomas of the canine oral cavity were evaluated. Final diagnoses after reevaluation were as follows: OF (3 cases), FD (4 cases), low-grade osteosarcoma (LG-OSA) (3 cases), and osteoma (5 cases). Histology alone often did not result in a definitive diagnosis for PFOL. OF appeared as a well-circumscribed, radiopaque mass with some degree of bone lysis on imaging. Most lesions of FD showed soft tissue opacity with bone lysis and ill-defined margins. Low-grade OSA appeared as a lytic lesion with a mixed opacity and ill-defined margins. Osteomas were characterized by a mineralized, expansile, well-circumscribed lesion. Although histologic features of PFOLs were typically bland, the lesions diagnosed as LG-OSA had some features of malignancy (eg, bone invasion or a higher mitotic index). Treatment varied widely. Of the 10 dogs with benign PFOL or osteoma with known outcome (10/12), 9 showed either complete response (6/10) or stable disease (3/10) after treatment. Of the 2 dogs with LG-OSA with known outcome, 1 showed complete response after curative intent surgery, but 1 patient had recurrence after partial maxillectomy. Definitive diagnosis of mandibular/maxillary PFOL is challenging via histopathologic examination alone, and accurate diagnosis is best achieved through assimilation of clinical, imaging, and histopathologic features. © The Author(s) 2015.

The diagnostic dilemma of tumor induced osteomalacia: a retrospective analysis of 144 cases.

PubMed

Feng, Juan; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiaoping; Huo, Li; Li, Fang; Yu, Wei; Zhong, Ding-Rong; Jin, Jin; Liu, Yong; Qi, Fang; Lv, Wei; Zhou, Lian; Meng, Xun-Wu; Xia, Wei-Bo

2017-07-28

Diagnostic delay of tumor induced osteomalacia (TIO) is common in clinic practice. To investigate the diagnostic condition of TIO in China and raise clinicians' awareness of TIO, we retrospectively analyzed clinical manifestations, biochemical features, and specially evaluated missed diagnoses and misdiagnoses among 144 TIO patients from Peking Union Medical College Hospital during December 1982 to December 2014. Clinical presentations of TIO mainly included bone pain, difficulty in walking, pathological fractures, muscle weakness, and height loss. TIO patients demonstrated hypophosphatemia (0.48±0.13 mmol/L), elevated serum alkaline phosphatase (277.9±152.6 U/L), reduced tubular maximum for phosphorus/glomerular filtration rate (0.39±0.14) and markedly elevated serum fibroblast growth factor 23 (FGF23) (median level 302.9 pg/mL). The average time from onset to a correct diagnosis was 2.9±2.3 years while the mean duration from onset to tumor resection was 5.4±4.2 years. The initial misdiagnosis rate was 95.1% (137/144) and 240 case-times of misdiagnoses occurred among the 144 cases. The most frequent misdiagnoses were intervertebral disc herniation, spondyloarthritis (including ankylosing spondylitis) and osteoporosis. A total of 43.1% (62/144) cases with hypophosphatemia presented on their laboratory sheets were neglected and missed diagnosed. Our study showed that TIO was frequently misdiagnosed and missed diagnosed due to its rarity, insidious onset, nonspecific clinical manifestations and clinicians' poor recognition. It is necessary to test serum phosphorus in patients with musculoskeletal symptoms and difficulty in walking. The measurement of serum FGF23 is rather valuable. Once hypophosphatemia is discovered, TIO should be suspected and it is highly recommended to search for tumors and perform curative surgery.

A retrospective study on the etiological diagnoses of diarrhea in neonatal piglets in Ontario, Canada, between 2001 and 2010.

PubMed

Chan, Gloria; Farzan, Abdolvahab; DeLay, Josepha; McEwen, Beverly; Prescott, John F; Friendship, Robert M

2013-10-01

Laboratory surveillance data from the Animal Health Laboratory, University of Guelph, on the etiological diagnoses of neonatal diarrhea in piglets were analyzed to determine the relative importance and trends of different enteric pathogens in Ontario. A total of 237 cases, including live and dead 1- to 7-day-old piglets, were submitted for diagnosis of gastrointestinal illness between 2001 and 2010. The combined frequencies for cases of gastrointestinal illness involving Escherichia coli, Clostridium perfringens type A, rotavirus, and Clostridium difficile, either as single pathogens or a complex of pathogens, accounted for 56% of the total cases. In a total of 33% of cases of gastrointestinal illness, an etiological agent was not identified. The frequency of cases diagnosed with enterotoxigenic E. coli was decreased from 2007. Cases submitted in 2010 were more likely to be diagnosed with C. perfringens type A compared to cases submitted in 2002 to 2007 (P < 0.05). There was a significant trend for cases submitted in the winter to be diagnosed with C. perfringens type A, enterotoxigenic E. coli, rotavirus, and Cystoisospora suis (formerly Isospora suis) (P < 0.05). Enterotoxigenic E. coli was less likely diagnosed if C. difficile, C. perfringens, or rotavirus were detected (P < 0.05). Younger piglets were more likely to be diagnosed with C. perfringens type A (P < 0.05) and C. difficile (P < 0.05) than older piglets. This study shows that E. coli, C. perfringens type A, rotavirus, and C. difficile are enteric pathogens of concern for Ontario swine farrowing operations and further research is required to understand the reasons for the cases that are not diagnosed.

A retrospective study on the etiological diagnoses of diarrhea in neonatal piglets in Ontario, Canada, between 2001 and 2010

PubMed Central

Chan, Gloria; Farzan, Abdolvahab; DeLay, Josepha; McEwen, Beverly; Prescott, John F.; Friendship, Robert M.

2013-01-01

Laboratory surveillance data from the Animal Health Laboratory, University of Guelph, on the etiological diagnoses of neonatal diarrhea in piglets were analyzed to determine the relative importance and trends of different enteric pathogens in Ontario. A total of 237 cases, including live and dead 1- to 7-day-old piglets, were submitted for diagnosis of gastrointestinal illness between 2001 and 2010. The combined frequencies for cases of gastrointestinal illness involving Escherichia coli, Clostridium perfringens type A, rotavirus, and Clostridium difficile, either as single pathogens or a complex of pathogens, accounted for 56% of the total cases. In a total of 33% of cases of gastrointestinal illness, an etiological agent was not identified. The frequency of cases diagnosed with enterotoxigenic E. coli was decreased from 2007. Cases submitted in 2010 were more likely to be diagnosed with C. perfringens type A compared to cases submitted in 2002 to 2007 (P < 0.05). There was a significant trend for cases submitted in the winter to be diagnosed with C. perfringens type A, enterotoxigenic E. coli, rotavirus, and Cystoisospora suis (formerly Isospora suis) (P < 0.05). Enterotoxigenic E. coli was less likely diagnosed if C. difficile, C. perfringens, or rotavirus were detected (P < 0.05). Younger piglets were more likely to be diagnosed with C. perfringens type A (P < 0.05) and C. difficile (P < 0.05) than older piglets. This study shows that E. coli, C. perfringens type A, rotavirus, and C. difficile are enteric pathogens of concern for Ontario swine farrowing operations and further research is required to understand the reasons for the cases that are not diagnosed. PMID:24124267

Cutaneous paragonimiasis due to triploid Paragonimus westermani presenting as a non-migratory subcutaneous nodule: a case report

PubMed Central

2014-01-01

Introduction Paragonimiasis is a food-borne infection caused by Paragonimus parasites. The lungs and pleura are the primary sites for the infection; however, ectopic infection can occur in other organs such as skin, liver and brain. It is difficult to make a diagnosis of ectopic paragonimiasis due to an ignorance of, and unfamiliarity with the disease. We report the case of a patient with subcutaneous paragonimiasis diagnosed by histopathological analysis and serological testing. Case presentation A 39-year-old Chinese immigrant woman presented with a subcutaneous nodule in her left lower back. The nodule was initially suspected of lipoma and she was followed up on without any treatment. However, it gradually indurated and the nodule was resected surgically. A magnetic resonance imaging scan revealed a polycystic lesion with inhomogeneous low or high intensity on T1- or T2-weighted images, respectively. The rim of the lesion was enhanced after contrast enhancement, but the inside did not show high-signal intensity. A histological analysis of the surgically resected specimen revealed variable-sized tubulo-cystic structures. The cyst wall showed a granulomatous change with scant eosinophilic infiltration. A number of parasite ova were observed in the necrotic tissue inside the cysts, and a parasite body with a presumed oral sucker and reproductive organ was also detected, suggesting a trematode infection. A subsequent serological examination showed a positive reaction of her serum to the Paragonimus westermani antigen. No abnormal findings were found on her chest computed tomography scan. The diagnosis of subcutaneous paragonimiasis caused by Paragonimus westermani was made. Conclusions We report a case presenting only as a non-migratory subcutaneous nodule without any pleuropulmonary lesion, which was initially suspected of lipoma but denied by magnetic resonance imaging scan results. The case was subsequently diagnosed as subcutaneous paragonimiasis from the results of histopathological analysis and serological testing. PMID:25322860

Sentinel lymph node biopsy in clinically detected ductal carcinoma in situ.

PubMed

Al-Ameer, Ahmed Yahia; Al Nefaie, Sahar; Al Johani, Badria; Anwar, Ihab; Al Tweigeri, Taher; Tulbah, Asma; Alshabanah, Mohmmed; Al Malik, Osama

2016-04-10

To study the indications for sentinel lymph node biopsy (SLNB) in clinically-detected ductal carcinoma in situ (CD-DCIS). A retrospective analysis of 20 patients with an initial diagnosis of pure DCIS by an image-guided core needle biopsy (CNB) between June 2006 and June 2012 was conducted at King Faisal Specialist Hospital. The accuracy of performing SLNB in CD-DCIS, the rate of sentinel and non-sentinel nodal metastasis, and the histologic underestimation rate of invasive cancer at initial diagnosis were analyzed. The inclusion criteria were a preoperative diagnosis of pure DCIS with no evidence of invasion. We excluded any patient with evidence of microinvasion or invasion. There were two cases of mammographically detected DCIS and 18 cases of CD-DCIS. All our patients were diagnosed by an image-guided CNB except two patients who were diagnosed by fine needle aspiration (FNA). All patients underwent breast surgery, SLNB, and axillary lymph node dissection (ALND) if the SLN was positive. Twenty patients with an initial diagnosis of pure DCIS underwent SLNB, 2 of whom had an ALND. The mean age of the patients was 49.7 years (range, 35-70). Twelve patients (60%) were premenopausal and 8 (40%) were postmenopausal. CNB was the diagnostic procedure for 18 patients, and 2 who were diagnosed by FNA were excluded from the calculation of the underestimation rate. Two out of 20 had a positive SLNB and underwent an ALND and neither had additional non sentinel lymph node metastasis. Both the sentinel visualization rate and the intraoperative sentinel identification rate were 100%. The false negative rate was 0%. Only 2 patients had a positive SLNB (10%) and neither had additional metastasis following an ALND. After definitive surgery, 3 patients were upstaged to invasive ductal carcinoma (3/18 = 16.6%) and 3 other patients were upstaged to DCIS with microinvasion (3/18 = 16.6%). Therefore the histologic underestimation rate of invasive disease was 33%. SLNB in CD-DCIS is technically feasible and highly accurate. We recommend limiting SLNB to patients undergoing a mastectomy.

Study of cognitive functions in newly diagnosed cases of subclinical and clinical hypothyroidism.

PubMed

Sharma, Kirti; Behera, Joshil Kumar; Sood, Sushma; Rajput, Rajesh; Satpal; Praveen, Prashant

2014-01-01

Hypothyroidism is associated with significant neurocognitive deficits because hypothyroidism prevents the brain from adequately sustaining the energy consuming processes needed for neurotransmission, memory, and other higher brain functions. Hence, the study was done to assess the cognitive functions of newly diagnosed subclinical and clinical hypothyroid patients by evoked response potential P300. 75 patients each of newly diagnosed subclinical and clinical hypothyroid patients attending endocrinology clinic and 75 healthy age and sex matched euthyroid controls were considered for the study. P300 was recorded with Record Medicare System Polyrite, Chandigarh using auditory "oddball paradigm". The data was analyzed using ANOVA followed by post Tukey's test. Newly diagnosed clinical hypothyroid patients showed a significant increase in P300 latency compared to control (P < 0.05) and subclinical cases (P < 0.01) while there was no significant difference between the P300 latency of subclinical cases and control group. Also, there was no significant difference in P300 amplitude among the three groups. P300 latency in case of newly diagnosed hypothyroid clinical cases is significantly increased compared to newly diagnosed subclinical cases and control.

Early Antiretroviral Therapy Initiation and Mortality Among Infants Diagnosed With HIV in the First 12 Weeks of Life: Experiences From Kinshasa, DR Congo and Blantyre, Malawi.

PubMed

Sheahan, Anna; Feinstein, Lydia; Dube, Queen; Edmonds, Andrew; Chirambo, Chawanangwa Mahebere; Smith, Emily; Behets, Frieda; Heyderman, Robert; Van Rie, Annelies

2017-07-01

Based on clinical trial results, the World Health Organization recommends infant HIV testing at age 4-6 weeks and immediate antiretroviral therapy (ART) initiation in all HIV-infected infants. Little is known about the outcomes of HIV-infected infants diagnosed with HIV in the first weeks of life in resource-limited settings. We assessed ART initiation and mortality in the first year of life among infants diagnosed with HIV by 12 weeks of age. Cohort of HIV-infected infants in Kinshasa and Blantyre diagnosed before 12 weeks to estimate 12-month cumulative incidences of ART initiation and mortality, accounting for competing risks. Multivariate models were used to estimate associations between infant characteristics and timing of ART initiation. One hundred and twenty-one infants were diagnosed at a median age of 7 weeks (interquartile range, 6-8). The cumulative incidence of ART initiation was 46% [95% confidence interval (CI), 36%, 55%] at 6 months and 70% (95% CI 60%, 78%) at 12 months. Only age at HIV diagnosis was associated with ART initiation by age 6 months, with a subdistribution hazard ratio of 0.70 (95% CI 0.52, 0.91) for each week increase in age at DNA polymerase chain reaction test. The 12-month cumulative incidence of mortality was 20% (95% CI 13%, 28%). Despite early diagnosis of HIV, ART initiation was slow and mortality remained high, underscoring the complexity in translating clinical trial findings and World Health Organization's guidance into real-life practice. Novel and creative health system interventions will be required to ensure that all HIV-infected infants achieve optimal treatment outcomes under routine care settings.

Implementation and assessment of a fast-track programme to improve communication between primary and specialized care in patients with suspected cancer: how to shorten time between initial symptoms of cancer, diagnosis and initiation of treatment.

PubMed

Martínez, M T; González, I; Tarazona, N; Roselló, S; Saiz, R; Sanmartín, A; Martínez-Agulló, Á; Caballero, A; Mas, P; Franco, J; Martínez-Jabaloyas, J; García-Callejo, J; Martín, V; Navarro, J; Teruel, A; Lluch, A; Chirivella, I

2015-02-01

This study aims to asses a cancer fast-track programme (CFP) to shorten the time since a patient with suspicion of cancer is referred by the primary care (PC) physician to the specialized medical team. Guidelines for main suspected tumours were designed to help PC physicians to detect and rapidly refer cases to the CFP oncology coordinator, who sent them to the appropriate department to accelerate diagnosis, staging and therapy. All patients analysed in this report were referred from June 2009 to July 2012. A total of 897 suspected cancer cases were submitted and finally 705 were studied. In 205 (29 %) a cancer diagnosis was confirmed within 23 days (median). Therapy was initiated within 46 days after referral (median). Early diagnoses with a potential curative approach were made in 166 (82 %). This CFP decreased the waiting time for cancer diagnosis, by improving communication between PC physician and specialized care teams. Most patients included in this program could get therapy with curative intent.

Malignant tumors associated with ovarian mature teratoma: A single institution experience.

PubMed

Trabzonlu, Levent; Durmaz, Guray; Vural, Cigdem; Muezzinoglu, Bahar; Corakci, Aydin

2017-05-01

The aims of this study are to present demographical features of cases diagnosed with malignant tumor associated with ovarian mature teratoma and to analyze histopathological features and clinical follow up of these tumors. Single-institution retrospective charts were reviewed to identify all cases of ovarian mature teratoma diagnosed from 1998 to 2015. Clinicopathological parameters that were analyzed include age, tumor size, tumor stage, histological type, laterality, IOC diagnosis and whether or not patient has received adjuvant chemotherapy. A total of 218 ovarian mature teratoma cases were identified during the study period. Of the 218 ovarian mature teratoma specimens, eight (3.7%) exhibited malignant tumors. The average age for cases of malignancy associated with ovarian mature teratoma was 44.6 years. The average size of tumors was 10.36cm. On final pathology, histological types of tumors were as follows: two cases each of squamous cell carcinoma and papillary thyroid carcinoma; one case each of mucinous adenocarcinoma, metastatic adenocarcinoma, sebaceous carcinoma and oligodendroglioma. Only one patient with Stage IIB tumor died of disease. One patient was alive with metastatic disease two months after initial diagnosis. Mean and median follow-up times were 64.1 and 49 months, respectively. An ovarian mass that has characteristics of a teratoma in a postmenopausal patient should alert for malignancy -regardless of tumor size. IOC is a valuable tool for the detection of malignancy and should be requested to determine the modality of surgical approach. Copyright © 2017 Elsevier GmbH. All rights reserved.

Successful treatment with tacrolimus in TAFRO syndrome: two case reports and literature review

PubMed Central

Shirai, Taiichiro; Onishi, Akira; Waki, Daisuke; Saegusa, Jun; Morinobu, Akio

2018-01-01

Abstract Rationale: TAFRO syndrome is a systemic inflammatory disorder characterized by thrombocytopenia, anasarca, fever, reticulin fibrosis, renal dysfunction, and organomegaly. In contrast to that in multicentric Castleman disease, interleukin-6 targeting strategies seem ineffective in some TAFRO syndrome cases; however, the optimal treatment remains unclear. Here, we report 2 cases of TAFRO syndrome, where 1 with cardiomyopathy, successfully treated with tacrolimus. This is the first case report of successful treatment with tacrolimus in TAFRO syndrome. Patient concerns: Both patients (cases 1 and 2) developed fever, anasarca, thrombocytopenia, renal dysfunction, and mild hepatosplenomegaly. Diagnoses: In both patients, lymph node pathology revealed mixed type Castleman disease-like features, and bone marrow showed reticulin myelofibrosis. TAFRO syndrome was diagnosed based on the patients’ laboratory, clinical, and pathologic findings. In case 2, we observed a rare complication of cardiomyopathy with no evidence of takotsubo cardiomyopathy or viral myocarditis. Interventions and outcomes: In case 1, tocilizumab combined with glucocorticoids was ineffective and caused septic shock; additionally, cyclosporine A was discontinued because of hepatotoxicity. However, tacrolimus was effective in resolving TAFRO syndrome without any adverse events. In case 2, tacrolimus completely reversed TAFRO syndrome and was also effective in cardiomyopathy. Lessons: This report suggests that tacrolimus is potentially effective and safe as an initial treatment and a glucocorticoid-sparing agent. Our literature review shows that calcineurin inhibitors, including tacrolimus, may be effective in TAFRO syndrome. Since previous studies indicate a role of Th1 inflammation in TAFRO syndrome pathogenesis, tacrolimus may, therefore, be effective in treating TAFRO syndrome. PMID:29879072

A rare cause of cystic lung disease - Birt-Hogg-Dubé syndrome.

PubMed

Minnis, P; Riddell, P; Keane, M P

2016-01-01

Birt-Hogg-Dubé syndrome, initially described in 1977, is an autosomal dominant inherited condition characterised by basal pulmonary cysts often resulting in pneumothorax, renal tumours and cutaneous involvement. Lung cysts have been described in up to 90% of patients with a corresponding risk of pneumothorax of 50 times greater than the normal population. We describe here a case of Birt-Hogg-Dubé diagnosed in the 9th decade of life and discuss the radiological findings and clinical implications.

Efficacy of combined cognitive-behavior therapy and hypnotherapy in anorexia nervosa: a case study.

PubMed

Roy, Prasanta Kumar

2014-01-01

A 22-year-old female diagnosed with anorexia nervosa received brief psychotherapy within a span of 1.5 months. Detailed cognitive-behavioral assessment was done and eating attitude was rated. Intervention of eating behavior and cognitive restructuring were initiated along with regular practice of self-hypnosis with ego-strengthening suggestions. Age regression was done to identify conflicts. Significant improvement in eating attitude was noted after 8 sessions without relapse at 3 months. Details of the psychotherapy are discussed.

Gynaecomastia: an endocrine manifestation of testicular cancer.

PubMed

Hassan, H C; Cullen, I M; Casey, R G; Rogers, E

2008-06-01

Testicular cancer is the most common malignancy affecting young men in their third or fourth decade with an incidence of three to six new cases per 100,000 males each year. When diagnosed and treated in its early stages, it has an excellent cure rate. 7-11% of patients with testicular cancer present initially with gynaecomastia. This may precede the presence of a palpable testicular tumour or hormonal abnormalities. This article evaluates the association between gynaecomastia and testicular cancer and recommends appropriate management for patients presenting with gynaecomastia.

[Adenocarcinoma of lung cancer with solitary metastasis to the stomach].

PubMed

Koh, Sung Ae; Lee, Kyung Hee

2014-09-25

Although hematogenous metastasis of cancer to the gastrointestinal track is rare, it sometime has been reported in patients with malignant melanoma and breast cancer. However, it is extremely rare for lung cancer to metastasize to the stomach, not to mention solitary gastric metastasis. Herein, the authors report a case of a 69-year-old man who was initially diagnosed with lung cancer with synchronous primary gastric cancer which proved to be lung cancer with solitary gastric metastasis after the operation.

A unilateral hemothorax as a presenting manifestation of mediastinal spindle cell sarcoma.

PubMed

Chabowski, M; Szymanska-Chabowska, A; Szolkowska, M; Janczak, D

2015-01-01

The article presents the case of a 73-year-old female injured in a bicycle accident, who was diagnosed with a left hemothorax. Initially, a chest drain was inserted and the pleural hematoma was evacuated. Then a thoracotomy was performed. A hematoma debridement and decortication with a subsequent tissue biopsy was carried out and a final diagnosis of spindle cell sarcoma was made. There is a brief discussion on the differential diagnosis of spontaneous hemothorax and its management.

Management of synchronous tumours of the oesophagus and pancreatic head: a novel approach.

PubMed

Gyorki, D E; Clarke, N E; Hii, M W; Banting, S W; Cade, R J

2011-09-01

Synchronous tumours of the oesophagus and pancreatic head are very rare. This report describes a unique case of an adenocarcinoma of the distal oesophagus and a neuroendocrine tumour of the pancreatic head diagnosed synchronously but successfully managed metachronously. Initially, the patient underwent an oesophagectomy, with a colonic reconstruction following some months later by pylorus-preserving pancreaticoduodenectomy. A staged resection was performed after a review of the literature suggested increased morbidity with synchronous major abdominal operations.

Odontoid pannus formation in a patient with ankylosing spondylitis causing atlanto-axial instability

PubMed Central

Rajak, Rizwan; Wardle, Phil; Rhys-Dillon, Ceril; Martin, James C

2012-01-01

Ankylosing spondylitis is one of the commonest inflammatory diseases of the axial skeleton and can be complicated by atlanto-axial instability. This serious and likely underestimated complication can be easily overlooked. However, there are clear features which can help alert suspicion to initiate the appropriate investigations with imaging that is very effective at diagnosing and assessing this complication. The authors report an unusual case where odontoid pannus formation, akin to that seen in rheumatoid arthritis, was the underlying cause. PMID:22665557

Thoracopulmonary actinomycosis: the masquerader.

PubMed

Prabhu, S; Sripathi, H; Rao, R; Hameed, S

2008-05-01

Thoracopulmonary actinomycosis can mimic various lung pathologies such as bronchogenic carcinoma, tuberculosis and fungal pneumonia, to name but a few. The common causative agent is Actinomyces israelii. The disease is successfully diagnosed only if there is a high index of suspicion and a thorough evaluation with multidisciplinary involvement. We present a case of thoracopulmonary actinomycosis in a young immunocompetent man who did not have any predisposing illness, and who was treated initially for pulmonary tuberculosis. He showed good response to injection crystalline penicillin, which was later changed to oral amoxicillin.

Intra-Articular Entrapment of the Medial Epicondyle following a Traumatic Fracture Dislocation of the Elbow in an Adult

PubMed Central

Hassan, Youssef G.; Joukhadar, Nabih I.

2018-01-01

Medial epicondyle entrapment after an acute fracture dislocation of the elbow is a common finding in the pediatric population, but a rare finding in adults. We present a case of an adult patient diagnosed with a traumatic fracture dislocation of the elbow joint with intra-articular entrapment of the medial epicondyle. After initial evaluation, closed reduction was done. Stability testing after reduction showed an unstable joint; thus, open reduction and internal fixation was decided. PMID:29666736

Evaluation of the BT-1 serum assay for breast cancer.

PubMed

Whitehurst, M M; Aldenderfer, P H; Sooy, M M; Strelkauskas, A J

1999-01-01

The BT-1 assay which identifies a novel breast tumor associated serum analyte was performed for 143 patients previously diagnosed with breast cancer. Mucin tumor markers CA15-3/CA27-29 values were available for 50 patients and there was very minor overlap between patients positive by both tests. Patients' follow-up clinical status at sample draw was compared to BT-1 assay results. 27% of patients originally diagnosed as Stage II and 20% patients originally diagnosed as Stage III who were evaluated 'no disease' had positive BT-1 values. 8% patients diagnosed as Stage II had negative BT-1 results in samples drawn within 90 days of chemotherapy initiation, whereas 23% of patients diagnosed as Stage III cancer were BT-1 test positive within 90 days of chemotherapy initiation. 50% of patients tested before initial breast cancer surgery had positive BT-1 values, suggesting that the BT-1 assay may be useful in identification women with more advanced disease at diagnosis.

Reliability in the DSM-III field trials: interview v case summary.

PubMed

Hyler, S E; Williams, J B; Spitzer, R L

1982-11-01

A study compared the reliability of psychiatric diagnoses obtained from the live interviews and from case summaries, on the same patients, by the same clinicians, using the same DSM-III diagnostic criteria. The results showed that the reliability of the major diagnostic classes of DSM-III was higher when diagnoses were made from live interviews than when they were made from case summaries. We conclude that diagnoses based on information contained in traditionally prepared case summaries may lead to an underestimation of the reliability of diagnoses made based on information collected during a "live" interview.

Gas gangrene in orthopaedic patients.

PubMed

Ying, Zhimin; Zhang, Min; Yan, Shigui; Zhu, Zhong

2013-01-01

Clostridial myonecrosis is most often seen in settings of trauma, surgery, malignancy, and other underlying immunocompromised conditions. Since 1953 cases of gas gangrene have been reported in orthopaedic patients including open fractures, closed fractures, and orthopaedic surgeries. We present a case of 55-year-old obese woman who developed rapidly progressive gas gangrene in her right leg accompanied by tibial plateau fracture without skin lacerations. She was diagnosed with clostridial myonecrosis and above-the-knee amputation was carried out. This patient made full recovery within three weeks of the initial episode. We identified a total of 50 cases of gas gangrene in orthopaedic patients. Several factors, if available, were analyzed for each case: age, cause of injury, fracture location, pathogen, and outcome. Based on our case report and the literature review, emergency clinicians should be aware of this severe and potentially fatal infectious disease and should not delay treatment or prompt orthopedic surgery consultation.

Gas Gangrene in Orthopaedic Patients

PubMed Central

Ying, Zhimin; Zhang, Min; Yan, Shigui; Zhu, Zhong

2013-01-01

Clostridial myonecrosis is most often seen in settings of trauma, surgery, malignancy, and other underlying immunocompromised conditions. Since 1953 cases of gas gangrene have been reported in orthopaedic patients including open fractures, closed fractures, and orthopaedic surgeries. We present a case of 55-year-old obese woman who developed rapidly progressive gas gangrene in her right leg accompanied by tibial plateau fracture without skin lacerations. She was diagnosed with clostridial myonecrosis and above-the-knee amputation was carried out. This patient made full recovery within three weeks of the initial episode. We identified a total of 50 cases of gas gangrene in orthopaedic patients. Several factors, if available, were analyzed for each case: age, cause of injury, fracture location, pathogen, and outcome. Based on our case report and the literature review, emergency clinicians should be aware of this severe and potentially fatal infectious disease and should not delay treatment or prompt orthopedic surgery consultation. PMID:24288638

The life cycles of intense cyclonic and anticyclonic circulation systems observed over oceans

NASA Technical Reports Server (NTRS)

Smith, Phillip J.

1994-01-01

The work over the past six months has focused on the October/November 1985 blocking case study noted in the last progress report. A summary of the results of this effort is contained in the attached preprint papers for the Symposium on the Life Cycles of Extratropical Cyclones. Using this case study as a model, Ph.D. student Anthony Lupo is now initiating the multiple-case diagnosis by first examining two more fall 1985 blocking episodes. In addition, two secondary efforts have been completed, as summarized in the attached M.S. thesis abstracts. Both studies, which were primarily funded by a fellowship and a teaching assistantship, complement the objectives of this study by providing diagnoses of additional cyclone cases to serve as a comparative base for the pre-blocking cyclones to be studied in the multiple-case blocking diagnosis.

Chiropractic management of breast-feeding difficulties: a case report.

PubMed

Holleman, Annique C; Nee, John; Knaap, Simone F C

2011-09-01

The purpose of this study is to discuss a chiropractic case of management and resolution of breast-feeding difficulties. The case involves an 8-day-old baby unable to breast-feed since 4 days old. Initial examination revealed cervical, cranial, and sacral restrictions. She was diagnosed with craniocervical syndrome by a doctor of chiropractic. Following history and examination, the infant received gentle chiropractic manipulation based on clinical findings. Immediate improvement and complete resolution of the nursing problems were observed after 3 treatments over 14 days. The results of this case suggest that neuromusculoskeletal dysfunction may influence the ability of an infant to suckle successfully and that intervention via chiropractic adjustments may result in improving the infant's ability to suckle efficiently. Copyright © 2011 National University of Health Sciences. Published by Elsevier Inc. All rights reserved.

Case base classification on digital mammograms: improving the performance of case base classifier

NASA Astrophysics Data System (ADS)

Raman, Valliappan; Then, H. H.; Sumari, Putra; Venkatesa Mohan, N.

2011-10-01

Breast cancer continues to be a significant public health problem in the world. Early detection is the key for improving breast cancer prognosis. The aim of the research presented here is in twofold. First stage of research involves machine learning techniques, which segments and extracts features from the mass of digital mammograms. Second level is on problem solving approach which includes classification of mass by performance based case base classifier. In this paper we build a case-based Classifier in order to diagnose mammographic images. We explain different methods and behaviors that have been added to the classifier to improve the performance of the classifier. Currently the initial Performance base Classifier with Bagging is proposed in the paper and it's been implemented and it shows an improvement in specificity and sensitivity.

Clinical outcomes for patients with liver-limited metastatic colorectal cancer: Arguing the case for specialist hepatobiliary multidisciplinary assessment.

PubMed

Thillai, K; Repana, D; Korantzis, I; Kane, P; Prachalias, A; Ross, P

2016-09-01

In patients with liver-limited metastatic colorectal cancer, hepatic resection can offer a significant survival benefit over systemic therapy alone. Specialist hepatobiliary multidisciplinary meetings are currently believed to provide the best forum to discuss the management for these patients. A retrospective analysis was undertaken of patients diagnosed with liver-limited metastatic colorectal cancer over 6 months within a cancer network in the United Kingdom. In addition, patients who were diagnosed but not referred to the hepatobiliary meeting were discussed within a virtual multi-disciplinary setting. Contributors were blinded and proposed management recorded. 159 newly diagnosed patients with liver-limited metastatic colorectal cancer were identified. 68 (43%) were referred at initial diagnosis and 38 (24%) referred following systemic treatment. 35 (51%) who were discussed at baseline underwent a subsequent hepatectomy or radiofrequency ablation, as did 18 (47%) patients referred after chemotherapy. Of the remaining 53 (33%) patients not referred, imaging was available for 31 (58%). Decisions regarding potential liver-directed therapy were discussed within a multi-disciplinary setting. 13 (42%) were identified as resectable or potentially resectable and 11 (36%) may have been suitable for a clinical trial. In reality, none of these 31 patients (100%) underwent surgery or ablation. Whilst the majority of patients with liver-limited metastatic colorectal cancer were referred appropriately, this study demonstrates that a significant number with potentially resectable disease are not being discussed at specialist meetings. A review of all diagnosed cases would ensure that an increased number of patients are offered hepatic resection or ablation. Copyright © 2016 Elsevier Ltd. All rights reserved.

US of Right Upper Quadrant Pain in the Emergency Department: Diagnosing beyond Gallbladder and Biliary Disease.

PubMed

Joshi, Gayatri; Crawford, Kevin A; Hanna, Tarek N; Herr, Keith D; Dahiya, Nirvikar; Menias, Christine O

2018-01-01

Acute cholecystitis is the most common diagnosable cause for right upper quadrant abdominal (RUQ) pain in patients who present to the emergency department (ED). However, over one-third of patients initially thought to have acute cholecystitis actually have RUQ pain attributable to other causes. Ultrasonography (US) is the primary imaging modality of choice for initial imaging assessment and serves as a fast, cost-effective, and dynamic modality to provide a definitive diagnosis or a considerably narrowed list of differential possibilities. Multiple organ systems are included at standard RUQ US, and a variety of ultrasonographically diagnosable disease processes can be identified, including conditions of hepatic, pancreatic, adrenal, renal, gastrointestinal, vascular, and thoracic origin, all of which may result in RUQ pain. In certain cases, subsequent computed tomography, magnetic resonance (MR) imaging, MR cholangiopancreatography, or cholescintigraphy may be considered, depending on the clinical situation and US findings. Familiarity with the spectrum of disease processes outside of the gallbladder and biliary tree that may manifest with RUQ pain and recognition at US of these alternative conditions is pivotal for early diagnosis and appropriate management. Diagnosis at the time of initial US can reduce unnecessary imaging and its consequences, including excess cost, radiation exposure, nephrotoxic contrast medium use, and time to diagnosis, thereby translating into improved patient care and outcome. This article (a) reviews the causes of RUQ pain identifiable at US using an organ-system approach, (b) illustrates the US appearance of select conditions from each organ system with multimodality imaging correlates, and (c) discusses the relevant pathophysiology and treatment of these entities to aid in efficient direction of management. Online supplemental material is available for this article. © RSNA, 2018.

What is the risk of developing pigmentary glaucoma from pigment dispersion syndrome?

PubMed

Siddiqui, Yasmin; Ten Hulzen, Richard D; Cameron, J Douglas; Hodge, David O; Johnson, Douglas H

2003-06-01

To determine the probability of converting from pigment dispersion syndrome to pigmentary glaucoma. Retrospective community-based study of all newly diagnosed cases of pigment dispersion syndrome or pigmentary glaucoma. Subjects were patients newly diagnosed with pigment dispersion syndrome or pigmentary glaucoma from 1976 to 1999 in Olmsted County, Minnesota. Criteria for pigment dispersion syndrome were two of three signs: midperipheral, radial iris transillumination defects; Krukenberg spindle; heavy trabecular meshwork pigmentation. Criteria for pigmentary glaucoma were pigment dispersion syndrome and two of three findings: intraocular pressure (IOP) greater than 21 mm, optic nerve damage, or visual field loss. Kaplan-Meier survival curves were used to determine the probability of conversion to pigmentary glaucoma. A total of 113 patients were newly diagnosed with pigment dispersion syndrome over the 24-year period. Of these, 9 persons developed pigmentary glaucoma or elevated IOP requiring therapy. The probability of converting to pigmentary glaucoma was 10% at 5 years and 15% at 15 years. An additional 23 patients were found to have pigmentary glaucoma at their initial examination. The mean age at diagnosis of pigmentary glaucoma was 42 +/- 12 years; 78% of patients were male, whereas 58% of patients with pigmentary dispersion syndrome glaucoma were male. The most significant risk factor for conversion to pigmentary glaucoma was an IOP greater than 21 mm Hg at initial examination, whereas age, refractive error, and family history of glaucoma were not correlated with conversion. The risk of developing pigmentary glaucoma from pigment dispersion syndrome was 10% at 5 years and 15% at 15 years. Young, myopic men were most likely to have pigmentary glaucoma. An IOP greater than 21 mm Hg at initial examination was associated with an increased risk of conversion.

Retinoblastoma: A Three-Year-Study at a Brazilian Medical School Hospital

PubMed Central

Bonanomi, Maria Teresa Brizzi Chizzotti; de Almeida, Maria Tereza Assis; Cristofani, Lilian Maria; Filho, Vicente Odone

2009-01-01

OBJECTIVE: To present the characteristics and treatment outcomes of patients with retinoblastoma. METHODS: A retrospective case series was conducted to review the records of all new patients diagnosed with retinoblastoma between 2003 and 2005. Eyes with early disease, or advanced disease with potential vision were treated with chemotherapy (carboplatin and etoposide) in conjunction with early local therapy (laser or cryo). Radiotherapy was used in cases where the disease did not respond to the above protocols or in recurrent cases. Eyes in the late stage of disease with no potential vision in the initial examination or eyes and where conservative treatment had failed were enucleated. RESULTS: In total, we reviewed 28 new cases of retinoblastoma, 15 of which were unilateral and 13 of which were bilateral (46%). These data correspond to a mean of 9.3 new cases per year (0.77 case/month). The mean age at diagnosis was 33.8 months for unilateral cases, and 19.15 months for bilateral cases (p=0.015). Leucocoria was the major presenting symptom (75%). All but one patient with unilateral disease had the affected eye enucleated due to advanced disease (mean follow-up: 39.91 months). Among the 13 bilateral cases, 13 eyes (50%) were enucleated, 11 eyes (42.4%) were saved with chemotherapy in conjunction with local therapy and 2 eyes (7.6%) were saved using external beam radiotherapy (mean follow-up: 41.91 months). In unilateral and bilateral disease, pathology data revealed choroid involvement in 50% and 30%, respectively, and optic nerve invasion in 92% and 50%, respectively. CONCLUSION: In this population, retinoblastoma was diagnosed too late and most eyes were consequently enucleated. In cases with bilateral disease, half of the eyes were preserved. PMID:19488609

Risk factors for treatment default in close contacts with latent tuberculous infection.

PubMed

Fiske, C T; Yan, F-X; Hirsch-Moverman, Y; Sterling, T R; Reichler, M R

2014-04-01

1) To characterize risk factors for non-completion of latent tuberculous infection treatment (LTBIT), and 2) to assess the impact of LTBIT regimens on subsequent risk of tuberculosis (TB). Close contacts of adults aged ⩾15 years with pulmonary TB were prospectively enrolled in a multi-center study in the United States and Canada from January 2002 to December 2006. Close contacts of TB patients were screened and cross-matched with TB registries to identify those who developed active TB. Of 3238 contacts screened, 1714 (53%) were diagnosed with LTBI. Preventive treatment was recommended in 1371 (80%); 1147 (84%) initiated treatment, of whom 723 (63%) completed it. In multivariate analysis, study site, initial interview sites other than a home or health care setting and isoniazid preventive treatment (IPT) were significantly associated with non-completion of LTBIT. Fourteen TB cases were identified in contacts, all of whom initiated IPT: two TB cases among persons who received ⩾6 months of IPT (66 cases/100 000 person-years [py]), and nine among those who received 0-5 months (median 2 months) of IPT (792 cases/100 000 py, P < 0.001); data on duration of IPT were not available for three cases. Only 53% (723/1371) of close contacts for whom IPT was recommended actually completed treatment. Close contacts were significantly less likely to complete LTBIT if they took IPT. Less than 6 months of IPT was associated with increased risk of active TB.

Ovarian torsion in a three-year-old girl.

PubMed

Ochsner, Todd Justin; Roos, Joel A; Johnson, Andrew S; Henderson, Janet L

2010-05-01

Ovarian torsion is the fifth most encountered gynecological emergency requiring surgery. Representing only 2.7% of surgical emergencies, it is an entity that is worth being familiar with in the emergency department (ED). Untreated ovarian torsion may result in loss of ovarian function, tissue necrosis, and death from thromboembolism or sepsis. Presenting with vague symptoms and abdominal pain, diagnosing ovarian torsion can be difficult, especially in children. The objective of this article is to present a case of pediatric ovarian torsion and to review its epidemiology, diagnosis, and treatment. A 3-year-old girl presented to the ED with vomiting, fever, anorexia, and abdominal pain. Initially diagnosed with appendicitis by physical examination and computed tomography scan, this patient was taken to the operating room for surgical exploration. The patient was subsequently found to have ovarian torsion, which was treated appropriately. Although a rare phenomenon, this case serves to increase awareness of the clinical presentation of ovarian torsion in the pediatric patient. Abdominal pain in the female child represents a challenging differential diagnosis, for which a physician must consider ovarian torsion. Copyright (c) 2010. Published by Elsevier Inc.

Should the diagnostic and therapeutic protocols for adrenal incidentalomas be changed?

PubMed

Mateo-Gavira, Isabel; Vilchez-López, Francisco Javier; Larrán-Escandón, Laura; Ojeda-Schuldt, María Belén; Tinoco, Cristina López; Aguilar-Diosdado, Manuel

2015-01-01

The prevalence of adrenal incidentalomas is increasing with the aging of the population and the use of high resolution imaging technics. Current protocols propose a comprehensive monitoring of their functional and morphological state, but with no conclusive clinical evidence that endorses it. Retrospective study of 96 patients diagnosed with adrenal incidentaloma between 2008 and 2012. We evaluated clinical, functional and imaging at baseline and during follow-up. Initially, 9 cases were surgically removed: 4 due to hyperfunction (2 Cushing syndromes and 2 pheochromocytomas) and 5 due to size larger than 4cm. During follow-up one case of pheochromocytoma was diagnosed and another grew more than 1cm, needing surgery. In 98.86% of nonfunctional and benign lesions, there was no functional and/or morphological changes in the final evaluation. The results of our study challenge the validity of current diagnostic-therapeutic protocols of incidentalomas, which should be reassessed in prospective studies taking into account efficiency characteristics. Copyright © 2013 AEC. Publicado por Elsevier España, S.L.U. All rights reserved.

Completed Ulnar Shaft Stress Fracture in a Fast-Pitch Softball Pitcher.

PubMed

Wiltfong, Roger E; Carruthers, Katherine H; Popp, James E

2017-03-01

Stress fractures of the upper extremity have been previously described in the literature, yet reports of isolated injury to the ulna diaphysis or olecranon are rare. The authors describe a case involving an 18-year-old fast-pitch softball pitcher. She presented with a long history of elbow and forearm pain, which was exacerbated during a long weekend of pitching. Her initial physician diagnosed her as having forearm tendinitis. She was treated with nonsurgical means including rest, anti-inflammatory medications, therapy, and kinesiology taping. She resumed pitching when allowed and subsequently had an acute event immediately ceasing pitching. She presented to an urgent care clinic that evening and was diagnosed as having a complete ulnar shaft fracture subsequently needing surgical management. This case illustrates the need for a high degree of suspicion for ulnar stress fractures in fast-pitch soft-ball pitchers with an insidious onset of unilateral forearm pain. Through early identification and intervention, physicians may be able to reduce the risk of injury progression and possibly eliminate the need for surgical management. [Orthopedics. 2017; 40(2):e360-e362.]. Copyright 2016, SLACK Incorporated.

[The supportive outcome of periodontal non-surgical therapy to severe chronic periodontitis accompanied with malformed lingual groove in lateral incisor for 6 years: a case report].

PubMed

Li, Zheng; Kang, Jun

2011-06-01

To track the initiating and developing process of one case diagnosed as chronic periodontitis accompanied with malformed lingual groove in maxillary lateral incisor and report the long-term prognosis to the periodontal conservative and supportive therapy. The patient was diagnosed with mild chronic periodontitis 6 years ago and accepted routine periodontal scaling and root planning (SRP) plus supportive periodontal therapy (SPT) one time. Two years later the periodontal condition deteriorated by deep pockets in molars and severe bone destruction around the maxillary lateral incisor with malformed lingual groove. After SRP in sites which pocket depth more than 4mm plus root canal therapy and lingual groove plasty of maxillary right lateral incisor, the SPT regularly proceeded at 3rd, 6th and 12th month. At present the whole periodontal tissue was healthy, the bone lesion around maxillary lateral incisor recovered well, the tooth had no mobile, the cosmetic effect andtooth function was in good state, and the patient was very satisfied.

Human babesiosis in Southeast China: A case report.

PubMed

Huang, Shanshan; Zhang, Lingling; Yao, Linong; Li, Jie; Chen, Hui; Ni, Qingxiang; Pan, Chenwei; Jin, Lingxiang

2018-03-01

A 60-year-old female patient living in Southeast China presented with persistent fever, chills, night sweats, fatigue, and dizziness of 12-day duration. Blood tests showed neutropenia, thrombocytopenia, and active hemolytic anemia, with elevated C-reactive protein. Broad-spectrum antibiotics were administered for a possible diagnosis of sepsis, without any response. Malaria was initially diagnosed after visualizing intraerythrocytic ring-shaped parasites in bone marrow and blood smears. The patient resided in an area of unstable endemicity for Plasmodium falciparum. Blood samples were sent to the Centers for Disease Control and Prevention and a definitive diagnosis of human babesiosis was made using Babesia microti-specific PCR. Chloroquine phosphate and clindamycin were started and the patient became normothermic. However, due to the intolerable adverse effects of the antibiotics, intravenous azithromycin was given as an alternative. The patient recovered from fever and hemolysis, and repeated peripheral blood smears showed hemoparasite clearance. Cases of human babesiosis are rarely reported and probably under-diagnosed in China; therefore, improving our understanding of this disease as a newly emerging public health threat is imperative. Copyright © 2018 The Author(s). Published by Elsevier Ltd.. All rights reserved.

[Determinants of tuberculosis diagnosis delay in limited resources countries].

PubMed

Ndeikoundam Ngangro, N; Chauvin, P; Halley des Fontaines, V

2012-02-01

Delayed diagnoses of pulmonary tuberculosis contribute to the spread of the epidemic. This study aims to identify risk factors associated with patient delay (from symptoms onset to the first visit), health system delay (from the first visit to the tuberculosis treatment initiation) and total delay (sum of the patient and the health system delay) in low income and high tuberculosis burden countries. A systematic literature review has been performed using the keywords: "tuberculosis"; "delay", care seeking"; "health care seeking behavior"; "diagnosis" and "treatment". Only quantitative studies showing delays for pulmonary tuberculosis adult cases were included in this review. Low income, gender, rural life, unemployment, ageing and misunderstanding the microbial cause of tuberculosis are associated with delayed diagnoses. Systemic factors including low health care coverage, patient expenditures and entry into the health system by consulting a traditional healer or a non-skilled professional delay the beginning of tuberculosis treatment. Delays can be used as indicators to evaluate tuberculosis control programs. Active case finding in the households of contagious patients can help to diminish diagnostic delays in low-income countries with high endemicity. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

A Case of Acute Budd-Chiari Syndrome Complicating Primary Antiphospholipid Syndrome Presenting as Acute Abdomen and Responding to Tight Anticoagulant Therapy.

PubMed

Chinen, Naofumi; Koyama, Yasushi; Sato, Shinji; Suzuki, Yasuo

2016-01-01

A 34-year-old woman with primary antiphospholipid syndrome was admitted to the Gastroenterology Department of our hospital with fever, acute abdomen, watery diarrhea, and extremely high levels of inflammatory parameters. She had a history of left lower limb deep vein thrombosis and pulmonary embolism and was taking warfarin potassium. Acute gastroenteritis was suspected and an antibiotic was administered, but symptoms progressed. Abdominal ultrasonography showed occlusion of the left hepatic vein and the middle hepatic vein and her D-dimer level was high. Accordingly, Budd-Chiari syndrome was diagnosed and high-dose intravenous infusion of heparin was initiated. Her abdominal symptoms improved and the levels of inflammatory parameters and D-dimer decreased rapidly. It is known that antiphospholipid syndrome can be complicated by Budd-Chiari syndrome that usually occurs as subacute or chronic onset, but acute onset is rare. It is difficult to diagnose acute Budd-Chiari syndrome complicating antiphospholipid syndrome and this complication generally has a poor outcome. However, the present case can get early diagnosis and successful treatment with tight anticoagulant therapy.

Intraabdominal actinomycosis resulting in a difficult to diagnose intraperitoneal mass: A case report.

PubMed

Tsujimura, Naoto; Takemoto, Hiroyoshi; Nakahara, Yujiro; Wakasugi, Masaki; Matsumoto, Takashi; Nishioka, Kiyonori; Takachi, Kou; Oshima, Satoshi; Yoshida, Kyotaro

2018-01-01

Actinomycosis is a chronic suppurative granulomatous disease caused by Actinomyces israelii. Preoperative confirmed diagnosis is very difficult, so most cases are diagnosed preoperatively as malignant tumors. We report a case of intraabdominal actinomycosis which was difficult to diagnose preoperatively. A woman, 60 years old, experienced discomfort in her lower right abdomen. She complained of nausea and anorexia and visited our hospital. Laboratory blood tests, abdominal CT, and abdominal MRI led to a diagnosis of a uterine sarcoma or primary intestinal mass, and she underwent surgery. Her histopathological diagnosis was intraabdominal actinomycosis. Actinomycosis is a chronic purulent granulomatous inflammation caused by Actinomyces israelii. No clinical symptoms or laboratory findings are characteristic of abdominal actinomycosis, so this disorder is very difficult to diagnose preoperatively. Therefore, many cases are diagnosed as malignant tumors and undergo surgery. After surgery, long-term antibiotic treatment (penicillin) is usually administered. We reported a case of intraabdominal actinomycosis that resulted in a difficult to diagnose intraperitoneal mass. When a large intraperitoneal mass is found, actinomycosis needs to be included as one of differential diagnoses. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

Associated factors for treatment delay in pulmonary tuberculosis in HIV-infected individuals: a nested case-control study.

PubMed

Coimbra, Isabella; Maruza, Magda; Militão-Albuquerque, Maria de Fátima Pessoa; Moura, Líbia Vilela; Diniz, George Tadeu Nunes; Miranda-Filho, Demócrito de Barros; Lacerda, Heloísa Ramos; Rodrigues, Laura Cunha; Ximenes, Ricardo Arraes de Alencar

2012-09-07

The delay in initiating treatment for tuberculosis (TB) in HIV-infected individuals may lead to the development of a more severe form of the disease, with higher rates of morbidity, mortality and transmissibility. The aim of the present study was to estimate the time interval between the onset of symptoms and initiating treatment for TB in HIV-infected individuals, and to identify the factors associated to this delay. A nested case-control study was undertaken within a cohort of HIV-infected individuals, attended at two HIV referral centers, in the state of Pernambuco, Brazil. Delay in initiating treatment for TB was defined as the period of time, in days, which was greater than the median value between the onset of cough and initiating treatment for TB. The study analyzed biological, clinical, socioeconomic, and lifestyle factors as well as those related to HIV and TB infection, potentially associated to delay. The odds ratios were estimated with the respective confidence intervals and p-values. From a cohort of 2365 HIV-infected adults, 274 presented pulmonary TB and of these, 242 participated in the study. Patients were already attending 2 health services at the time they developed a cough (period range: 1 - 552 days), with a median value of 41 days. Factors associated to delay were: systemic symptoms asthenia, chest pain, use of illicit drugs and sputum smear-negative. The present study indirectly showed the difficulty of diagnosing TB in HIV-infected individuals and indicated the need for a better assessment of asthenia and chest pain as factors that may be present in co-infected patients. It is also necessary to discuss the role played by negative sputum smear results in diagnosing TB/HIV co-infection as well as the need to assess the best approach for drug users with TB/HIV.

Chronic vulvovaginal candidiasis: characteristics of women with Candida albicans, C glabrata and no candida.

PubMed Central

Geiger, A M; Foxman, B; Sobel, J D

1995-01-01

INTRODUCTION--Although as many as 5% of all women complain of chronic vulvovaginitis, little is known about these women. They may often be misdiagnosed and the role of vaginal yeast culture in diagnosing vulvovaginal candidiasis (VVC) among them has not been clearly defined. METHODS--To address these deficiencies, we tabulated initial diagnoses among new patients and conducted a medical record-based, unmatched case-control study among women reporting a history of chronic vulvovaginitis (four or more episodes in the past year) at a vulvovaginitis specialty clinic. Clinical presentation and medical history were compared for women who had a positive vaginal yeast culture for either Candida albicans or C glabrata, or who had a negative culture. RESULTS--One-third of the women had no apparent vulvovaginal disease at their initial visit. All women reported similar symptoms, except for an increased prevalence of painful sexual intercourse in women with C albicans (chi 2 p = 0.014 versus women with C glabrata and p < 0.001 versus women with no candida). Women with C glabrata were more likely to be non-white (chi 2 p = 0.071 compared with women with C albicans) and to report an underlying medical condition (chi 2 p < or = 0.001 versus both women with C albicans and women with no candida). Physical examination was normal only in women with no candida. C albicans cases were more likely to have positive potassium hydroxide microscopy (chi 2 p = 0.016) and a pH < or = 4.5 (chi 2 p = 0.011) than were C glabrata cases. CONCLUSIONS--These results suggest that reliance on symptoms and signs alone will result in significant misdiagnosis of chronic vulvovaginitis. Among women with VVC, subtle differences in clinical presentation do not reliably distinguish women with C albicans from those with C glabrata. Our study also indicates that vaginal yeast cultures, while not necessary for every patient, are valuable in confirming negative diagnoses, detecting microscopy false-negatives, and identifying non-C albicans isolates. Images PMID:7490047

Timeliness of lung cancer care in Victoria: a retrospective cohort study.

PubMed

Evans, Sue M; Earnest, Arul; Bower, Wendy; Senthuren, Meera; McLaughlin, Peta; Stirling, Rob

2016-02-01

To assess factors associated with second-line delays in the management of patients diagnosed with lung cancer. A retrospective cohort study, conducted in six public and two private Victorian hospitals, of 1417 patients aged 18 years or more who were diagnosed between July 2011 and October 2014 with an incident case of lung cancer identified by International Classification of Diseases, 10th revision codes (C34.0-C34.9, Z85.1, Z85.2) on the basis of either a clinical or pathological diagnosis. Time intervals between referral, diagnosis and initial definitive management. The median time from referral to diagnosis was 15 days (interquartile range [IQR], 5-36); from diagnosis to initial definitive management, 30 days (IQR, 6-84); and from referral to initial definitive management, 53 days (IQR, 25-106). Factors that were significantly associated with delay between referral and initial definitive management include declining or not being referred to palliative care (hazard ratio [HR], v patients referred for palliation, 0.73; 95% CI, 0.62-0.86; P < 0.001), and being treated in a public hospital (HR, v patients managed in a private hospital, 0.55; 95% CI, 0.48-0.64; P < 0.001). The median time from referral to initial definitive management in public and private hospitals was 61 days (IQR, 35-118) and 30 days (IQR, 13-76) respectively; 48% of patients in public hospitals waited longer than the British National Health Service target of a maximum 62 days between referral and first definitive treatment. There are significant delays at various stages of the patient journey after referral for initial definitive management. Having a greater understanding of these delays will enable strategies to be developed that improve the timeliness of care for patients with lung cancer.

Impacts of a government-sponsored outpatient-based disease management program for patients with asthma: a preliminary analysis of national data from Taiwan.

PubMed

Weng, Hui-Ching

2005-02-01

In response to the high prevalence rates, mortality rates, and rising medical cost of asthma, the Bureau of National Health Insurance (BNHI) initiated a Healthcare Quality Improvement Program (HQIP) for people with asthma. The aim of this study was to investigate a preliminary analysis of the impact of a government-sponsored, outpatient-based disease management programs for people with asthma on the economic outcomes, the physician's and the patient's satisfaction. Using a retrospective design, a 1:4 (intervention vs. control group) matched cohort study design was used. Comparison of 1-year pre/post tests of utilizations of healthcare resources were conducted for 854 already diagnosed cases of patients with asthma. Comparison of independent tests between the intervention group and control group were performed for already diagnosed cases (n = 854) and newly-diagnosed cases (n = 231). Valid surveys were received from 212 physicians who participated the program, for a response rate of 46.0%, and 642 patients who enrolled in the program, for a response rate of 27.70%. Results indicated that the intervention group of already diagnosed cases had 39.94% fewer ED visits, 46.31% fewer inpatient visits, and 51.74% shorter length of stay, at a significant level. Though the HQIP program for people with asthma appeared to reduce medical care resource utilization for the intervention group, the control groups showed similar reductions but in different magnitude. For the newly diagnosed group, the intervention group had 197.43% more outpatient visits and 61.19% fewer ED visits of than those of the control group at a significant level. A majority of physicians (70%-85%) had positive opinions toward the HQIP program, but they admitted that the HQIP program prolonged the consultation time in outpatient visits (79.1%), and only 29.7% physicians did not feel interfered with while carrying out the HQIP. More than 80% of the patients showed positive feedback to the HQIP. The majority of the patients substantially adhered to physicians' suggestions, and had more accurate knowledge of and better self-care skills concerning asthma. These results have significance for the design of future programs aimed at improving the care of people with asthma and other chronic diseases in BNHI, Taiwan.

Case of possible multiple system atrophy with a characteristic imaging finding of open bladder neck during storage phase as an initial sign.

PubMed

Zhang, Lu; Haga, Nobuhiro; Ogawa, Soichiro; Matsuoka, Kanako; Koguchi, Tomoyuki; Akaihata, Hidenori; Hata, Junya; Kataoka, Masao; Ishibashi, Kei; Kojima, Yoshiyuki

2017-11-01

Multiple system atrophy is a neurodegenerative disease that affects autonomic and motor systems. Patients with multiple system atrophy usually experience lower urinary tract symptoms, which sometimes appear as an initial symptom before the emergence of the generalized symptoms. An open bladder neck during the filling phase on video urodynamic study is one characteristic imaging finding after the diagnosis of multiple system atrophy, but has not previously been reported at an early phase of the disease. We report a case in which an open bladder neck was observed on several imaging modalities before generalized symptoms emerged. Because occult neurogenic bladder might exist in patients whose lower urinary tract symptoms are resistant to pharmacotherapy, we report this case to raise awareness of the importance of sufficient imaging evaluations. An open bladder neck might be an important imaging finding for diagnosing multiple system atrophy, irrespective of the presence of generalized symptoms. This finding could help avoid false diagnosis and unnecessary treatment. © 2017 The Japanese Urological Association.

Granulomatous lobular mastitis secondary to Mycobacterium fortuitum.

PubMed

Kamyab, Armin

2016-12-16

Granulomatous lobular mastitis is a rare inflammatory disease of the breast of unknown etiology. Most present as breast masses in women of child-bearing age. A 29-year-old female presented with a swollen, firm and tender right breast, initially misdiagnosed as mastitis. Core needle biopsy revealed findings consistent with granulomatous lobular mastitis, and cultures were all negative for an infectious etiology. She was started on steroid therapy to which she initially responded well. A few weeks later she deteriorated and was found to have multiple breast abscesses. She underwent operative drainage and cultures grew Mycobacterium fortuitum . Granulomatous lobular mastitis is a rare inflammatory disease of the breast. The definitive diagnose entails a biopsy. Other causes of chronic or granulomatous mastitis should be ruled out, including atypical or rare bacteria such as Mycobacterium fortuitum . This is the first reported case of granulomatous mastitis secondary to Mycobacterium fortuitum . With pathologic confirmation of granulomatous mastitis, an infectious etiology must be ruled out. Atypical bacteria such as Mycobacterium fortuitum may not readily grow on cultures, as with our case. Medical management is appropriate, with surgical excision reserved for refractory cases or for drainage of abscesses.

Choroidal metastasis from early rectal cancer: Case report and literature review.

PubMed

Tei, Mitsuyoshi; Wakasugi, Masaki; Akamatsu, Hiroki

2014-01-01

Choroidal metastasis from colorectal cancer is rare, and there have been no reported cases of such metastasis from early colorectal cancer. We report a case of choroidal metastasis from early rectal cancer. A 61 year-old-man experienced myodesopsia in the left eye 2 years and 6 months after primary rectal surgery for early cancer, and was diagnosed with left choroidal metastasis and multiple lung metastases. Radiotherapy was initiated for the left eye and systemic chemotherapy is initiated for the multiple lung metastases. The patient is living 2 years and 3 months after the diagnosis of choroidal metastasis without signs of recurrence in the left eye, and continues to receive systemic chemotherapy for multiple lung metastases. Current literatures have few recommendations regarding the appropriate treatment of choroidal metastasis from colorectal cancer, but an aggressive multi-disciplinary approach may be effective in local regression. This is the first report of choroidal metastasis from early rectal cancer. We consider it important to enforce systemic chemotherapy in addition to radiotherapy for choroidal metastasis from colorectal cancer. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Plasmodium ovale infection in Malaysia: first imported case.

PubMed

Lim, Yvonne A L; Mahmud, Rohela; Chew, Ching Hoong; T, Thiruventhiran; Chua, Kek Heng

2010-10-08

Plasmodium ovale infection is rarely reported in Malaysia. This is the first imported case of P. ovale infection in Malaysia which was initially misdiagnosed as Plasmodium vivax. Peripheral blood sample was first examined by Giemsa-stained microscopy examination and further confirmed using a patented in-house multiplex PCR followed by sequencing. Initial results from peripheral blood smear examination diagnosed P. vivax infection. However further analysis using a patented in-house multiplex PCR followed by sequencing confirmed the presence of P. ovale. Given that Anopheles maculatus and Anopheles dirus, vectors of P. ovale are found in Malaysia, this finding has significant implication on Malaysia's public health sector. The current finding should serve as an alert to epidemiologists, clinicians and laboratory technicians in the possibility of finding P. ovale in Malaysia. P. ovale should be considered in the differential diagnosis of imported malaria cases in Malaysia due to the exponential increase in the number of visitors from P. ovale endemic regions and the long latent period of P. ovale. It is also timely that conventional diagnosis of malaria via microscopy should be coupled with more advanced molecular tools for effective diagnosis.

Dedifferentiated Liposarcoma in the Spermatic Cord Finally Diagnosed at 7th Resection of Recurrence: A Case Report and Bibliographic Consideration.

PubMed

Morozumi, Kento; Kawasaki, Yoshihide; Kaiho, Yasuhiro; Kawamorita, Naoki; Fujishima, Fumiyoshi; Watanabe, Mika; Arai, Yoichi

2017-01-01

Liposarcoma in the spermatic cord is infrequent, and accurate diagnosis of histopathological subtype is often difficult in spite of the importance of differential diagnosis for adequate treatment. A 54-year-old man underwent left-sided high orchiectomy with inguinal lymphadenectomy for a spermatic cord tumor in July 2006. The initial histopathological report diagnosed leiomyosarcoma in the spermatic cord. He then underwent surgeries for repeated recurrences a further 6 times between July 2008 and May 2014. Pathological finding at the 7th resection of the recurrent tumor was osteosarcoma, which was uncommon in the spermatic cord. With a thorough overview of all specimens, the histopathological diagnosis was finally confirmed as dedifferentiated liposarcoma because of a biphasic pattern in the specimen of high orchiectomy at the first resection. A biphasic pattern represents high-grade sarcoma like osteosarcoma and well-differentiated liposarcoma, and is characteristic of dedifferentiated liposarcoma. Although the dedifferentiated type is one of poor prognosis, the diagnosing of liposarcoma histopathologically was found to be difficult throughout this case. In this report we discuss the accurate histopathological diagnosis of liposarcoma in the spermatic cord in order to prevent repeated recurrences based on a review of the literature, as well as the difficulty in recognizing dedifferentiated liposarcoma macroscopically and morphologically. Our experience suggests that, after much difficulty, accurate histopathological diagnosis of liposarcoma in the spermatic cord is still clinically challenging.

Impact of systematic HIV testing on case finding and retention in care at a primary care clinic in South Africa.

PubMed

Clouse, Kate; Hanrahan, Colleen F; Bassett, Jean; Fox, Matthew P; Sanne, Ian; Van Rie, Annelies

2014-12-01

Systematic, opt-out HIV counselling and testing (HCT) may diagnose individuals at lower levels of immunodeficiency but may impact loss to follow-up (LTFU) if healthier people are less motivated to engage and remain in HIV care. We explored LTFU and patient clinical outcomes under two different HIV testing strategies. We compared patient characteristics and retention in care between adults newly diagnosed with HIV by either voluntary counselling and testing (VCT) plus targeted provider-initiated counselling and testing (PITC) or systematic HCT at a primary care clinic in Johannesburg, South Africa. One thousand one hundred and forty-four adults were newly diagnosed by VCT/PITC and 1124 by systematic HCT. Two-thirds of diagnoses were in women. Median CD4 count at HIV diagnosis (251 vs. 264 cells/μl, P = 0.19) and proportion of individuals eligible for antiretroviral therapy (ART) (67.2% vs. 66.7%, P = 0.80) did not differ by HCT strategy. Within 1 year of HIV diagnosis, half were LTFU: 50.5% under VCT/PITC and 49.6% under systematic HCT (P = 0.64). The overall hazard of LTFU was not affected by testing policy (aHR 0.98, 95%CI: 0.87-1.10). Independent of HCT strategy, males, younger adults and those ineligible for ART were at higher risk of LTFU. Implementation of systematic HCT did not increase baseline CD4 count. Overall retention in the first year after HIV diagnosis was low (37.9%), especially among those ineligible for ART, but did not differ by testing strategy. Expansion of HIV testing should coincide with effective strategies to increase retention in care, especially among those not yet eligible for ART at initial diagnosis. © 2014 John Wiley & Sons Ltd.

Severe morbidity after antiretroviral (ART) initiation: active surveillance in HIV care programs, the IeDEA West Africa collaboration.

PubMed

Abo, Yao; Zannou Djimon, Marcel; Messou, Eugène; Balestre, Eric; Kouakou, Martial; Akakpo, Jocelyn; Ahouada, Carin; de Rekeneire, Nathalie; Dabis, François; Lewden, Charlotte; Minga, Albert

2015-04-09

The causes of severe morbidity in health facilities implementing Antiretroviral Treatment (ART) programmes are poorly documented in sub-Saharan Africa. We aimed to describe severe morbidity among HIV-infected patients after ART initiation, based on data from an active surveillance system established within a network of specialized care facilities in West African cities. Within the International epidemiological Database to Evaluate AIDS (IeDEA)--West Africa collaboration, we conducted a prospective, multicenter data collection that involved two facilities in Abidjan, Côte d'Ivoire and one in Cotonou, Benin. Among HIV-infected adults receiving ART, events were recorded using a standardized form. A simple case-definition of severe morbidity (death, hospitalization, fever>38°5C, Karnofsky index<70%) was used at any patient contact point. Then a physician confirmed and classified the event as WHO stage 3 or 4 according to the WHO clinical classification or as degree 3 or 4 of the ANRS scale. From December 2009 to December 2011, 978 adults (71% women, median age 39 years) presented with 1449 severe events. The main diagnoses were: non-AIDS-defining infections (33%), AIDS-defining illnesses (33%), suspected adverse drug reactions (7%), other illnesses (4%) and syndromic diagnoses (16%). The most common specific diagnoses were: malaria (25%), pneumonia (13%) and tuberculosis (8%). The diagnoses were reported as syndromic in one out of five events recorded during this study. This study highlights the ongoing importance of conventional infectious diseases among severe morbid events occurring in patients on ART in ambulatory HIV care facilities in West Africa. Meanwhile, additional studies are needed due to the undiagnosed aspect of severe morbidity in substantial proportion.

Hepatic and skin metastases after laparoscopic radical prostatectomy for prostate cancer.

PubMed

Coman, Ioan; Crişan, Nicolae; Petrut, Bogdan; Bungărdean, Cătălina; Cristea, Tudor; Crişan, Dana

2007-09-01

Between 2004 and 2006, 50 radical prostatectomies were performed in our department, 46 of them through a laparoscopic approach addressed to early stage cancer (T1a,b,c and T2a,b,c N0 M0). We present the case of a 63 year old patient, who was initially diagnosed with prostate cancer in T1bN0M0 stage, Gleason score 8 and later presented atypical hepatic and trocar site metastases. This particular evolution of the case can be explained by the high value of the Gleason score and by the extension into microvessels observed on the sample prelevated by prostatectomy. The rarity of this atypical metastases and its association, the diagnostic and therapy problems are the reasons for the detailed presentation of this case.

Oesophageal foreign body and a double aortic arch: rare dual pathology.

PubMed

O'Connor, T E; Cooney, T

2009-12-01

We report the rare case of an oesophageal foreign body which lodged above the site of oesophageal compression by a double aortic arch. Case report and a review of the literature surrounding the classification, embryology, diagnosis and management of vascular rings and slings. An eight-month-old male infant presented with symptoms of tracheal compression following ingestion of an oesophageal foreign body. Following removal of the oesophageal foreign body, the infant's symptoms improved initially. However, subsequent recurrence of respiratory symptoms lead to a repeat bronchoscopy and the diagnosis of a coexisting double aortic arch, causing tracheal and oesophageal compression. To our knowledge, this is only the second reported case of a double aortic arch being diagnosed in a patient following removal of an oesophageal foreign body.

Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.

PubMed

Wu, Li Hong; Chen, Li-Hong; Xie, Hongning; Xie, Ying-Jun

2017-06-01

We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22 +1 and 31 +4 gestational weeks, but at 36 +5 gestational weeks both eyes had massive vitreous cavity opacities with complete retinal detachment. Norrie disease was initially suspected because of an older male sibling with the disease. To our knowledge, prenatal ultrasound diagnosis of Norrie disease has been previously described only one case in 1993 in a 34-week-old fetus. The normal eye development until after 31 + 4 gestational weeks provides insight into the first manifestation and then the rapid progression of the eye disease.

A rare case of leiomyosarcoma originating from the left round ligament of the uterus.

PubMed

Kaba, Metin; Tokmak, Aytekin; Timur, Hakan; Özdal, Bülent; Şirvan, Levent; Güngör, Tayfun

2016-07-01

Uterine leiomyosarcomas (LMS) are rare malignancies with a poor prognosis. The incidence is reported to be 3-7/100.000 per year. Preoperative and intraoperative differentiation between LMS and large leiomyoma is always challenging. Therefore, LMS are often diagnosed during postoperative histologic evaluation of hysterectomy or myomectomy specimens. LMS of the round ligament of the uterus which can represent as an inguinal or pelvic mass is extremely rare. To our knowledge, there is only one case report of LMS arising from the round ligament available in the literature. Herein, we aimed to present the second case of LMS originating from the left round ligament of the uterus in a premenopausal woman initially misdiagnosed as an ovarian tumor. © 2016 Old City Publishing, Inc.

The Future of Rheumatoid Arthritis and Hand Surgery - Combining Evolutionary Pharmacology and Surgical Technique

PubMed Central

M, Malahias; H, Gardner; S, Hindocha; A, Juma; Khan, W

2012-01-01

Rheumatoid arthritis is a systemic autoimmune disease of uncertain aetiology, which is characterized primarily by synovial inflammation with secondary skeletal destructions. Rheumatoid Arthritis is diagnosed by the presence of four of the seven diagnostic criteria, defined by The American College of Rheumatology. Approximately half a million adults in the United Kingdom suffer from rheumatoid arthritis with an age prevalence between the second and fourth decades of life; annually approximately 20,000 new cases are diagnosed. The management of Rheumatoid Arthritis is complex; in the initial phase of the disease it primarily depends on pharmacological management. With disease progression, surgical input to correct deformity comes to play an increasingly important role. The treatment of this condition is also intimately coupled with input from both the occupational therapists and physiotherapy. PMID:22423304

Nonconvulsive status epilepticus disguising as hepatic encephalopathy.

PubMed

Jo, Yong Min; Lee, Sung Wook; Han, Sang Young; Baek, Yang Hyun; Ahn, Ji Hye; Choi, Won Jong; Lee, Ji Young; Kim, Sang Ho; Yoon, Byeol A

2015-04-28

Nonconvulsive status epilepticus has become an important issue in modern neurology and epileptology. This is based on difficulty in definitively elucidating the condition and its various clinical phenomena and on our inadequate insight into the intrinsic pathophysiological processes. Despite nonconvulsive status epilepticus being a situation that requires immediate treatment, this disorder may not be appreciated as the cause of mental status impairment. Although the pathophysiology of nonconvulsive status epilepticus remains unknown, this disorder is thought to lead to neuronal damage, so its identification and treatment are important. Nonconvulsive status epilepticus should be considered in the differential diagnosis of patients with liver cirrhosis presenting an altered mental status. We report a case of a 52-year-old male with liver cirrhosis presenting an altered mental status. He was initially diagnosed with hepatic encephalopathy but ultimately diagnosed with nonconvulsive status epilepticus by electroencephalogram.

Paranasal sinus disease in HIV antibody positive patients.

PubMed Central

Grant, A; von Schoenberg, M; Grant, H R; Miller, R F

1993-01-01

OBJECTIVE--To investigate the prevalence of radiologically-diagnosed paranasal sinus disease in HIV-1 seropositive patients. SUBJECTS AND SETTING--476 patients admitted to a dedicated inpatient unit for HIV and AIDS at the Middlesex Hospital, London, between September 1988 and February 1992. DESIGN--Retrospective review of patients' case notes and radiological records. RESULTS--30 patients (6.3%) had radiological evidence of paranasal sinus disease. At the time of admission, sinusitis was in the differential diagnosis in only 12 of the 30 patients; 13 patients were initially diagnosed as having meningitis. Pseudomonas aeruginosa was the causative organism in four patients, all of whom had advanced HIV disease. All four responded to appropriate antibiotics but had early relapse of infection. CONCLUSIONS--Sinusitis is an important and under-recognised cause of morbidity in patients with HIV disease. Images PMID:8335314

Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report.

PubMed

Białka, Agnieszka; Gawlik, Aneta; Drosdzol-Cop, Agnieszka; Wilk, Krzysztof; Małecka-Tendera, Ewa; Skrzypulec-Plinta, Violetta

2016-04-01

Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Clinical and laboratory features of murine typhus in central Tunisia: a report of seven cases.

PubMed

Letaïef, A Omezzine; Kaabia, N; Chakroun, M; Khalifa, M; Bouzouaia, N; Jemni, L

2005-11-01

Murine or endemic typhus, caused by Rickettsia typhi, has been reported in all continents. In the 1970s, no cases of murine typhus were diagnosed in Tunisia. The clinico-epidemiological characteristics of seven cases of murine typhus diagnosed at our hospitals since 1993 are reported. Diagnosis was confirmed by indirect fluorescence assay detecting specific R. typhi antibodies. Murine typhus occurred in all ages from 18-80 years during the hot season in rural areas. Clinical features were: sudden onset of fever and absence of eschar in all cases, with maculo-papular rash (five cases), prostration (four cases), meningism (three cases) and pneumonia (four cases). Frequent laboratory findings were moderate thrombopenia (four cases) and elevated transaminases (four cases). Before the results of serology, clinical diagnoses were Mediterranean Spotted Fever (four cases), Q fever (one case), pneumonia (one case), and lymphocytic meningitis (one case). Serology confirmed all diagnoses with cross-reactivity with Rickettsia conorii. Murine typhus exists in Tunisia and its prevalence is underestimated. Further, more specific studies are needed to evaluate the true prevalence.

Campylobacter gracilis and Campylobacter rectus in primary endodontic infections.

PubMed

Siqueira, J F; Rôças, I N

2003-03-01

A species-specific nested polymerase chain reaction (PCR) assay was used to investigate the occurrence of Campylobacter gracilis and C. rectus in primary root canal infections. Samples were collected from 57 single-rooted teeth with carious lesions, necrotic pulps and radiographic evidence of periradicular disease. Twenty-eight cases were diagnosed as chronic asymptomatic periradicular lesions, 12 cases as acute apical periodontitis, and 17 cases as acute periradicular abscess. DNA was extracted from the samples and initially amplified using universal 16S rDNA primers. A second round of amplification using the first PCR products was performed to specifically detect C. gracilis or C. rectus in the samples. Campylobacter gracilis and C. rectus were, respectively, detected in 21.4 (6 of 28) and 30% (6 of 20) of the root canals associated with chronic asymptomatic periradicular lesions. Campylobacter gracilis was found in 16.7% (2 of 12) of the cases diagnosed as acute apical periodontitis, whilst C. rectus was found in 33.3% (two of six cases). In the abscessed cases, C. gracilis and C. rectus were detected in 23.5 (4 of 17) and 11.8% (2 of 17) of the cases, respectively. No association of these species with clinical symptoms was observed (P > 0.01) In general, species-specific nPCR allowed the detection of C. gracilis in 21.1% (12 of 57) and C. rectus in 23.3% (10 of 43)of the samples taken from primary endodontic infections. Findings confirmed the assertion that both C. gracilis and C. rectus participate in infections of endodontic origin and suggest a pathogenetic role with regard to periradicular diseases.

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

PubMed

Poirsier, Céline; Besseau-Ayasse, Justine; Schluth-Bolard, Caroline; Toutain, Jérôme; Missirian, Chantal; Le Caignec, Cédric; Bazin, Anne; de Blois, Marie Christine; Kuentz, Paul; Catty, Marie; Choiset, Agnès; Plessis, Ghislaine; Basinko, Audrey; Letard, Pascaline; Flori, Elisabeth; Jimenez, Mélanie; Valduga, Mylène; Landais, Emilie; Lallaoui, Hakima; Cartault, François; Lespinasse, James; Martin-Coignard, Dominique; Callier, Patrick; Pebrel-Richard, Céline; Portnoi, Marie-France; Busa, Tiffany; Receveur, Aline; Amblard, Florence; Yardin, Catherine; Harbuz, Radu; Prieur, Fabienne; Le Meur, Nathalie; Pipiras, Eva; Kleinfinger, Pascale; Vialard, François; Doco-Fenzy, Martine

2016-06-01

Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative genomic hybridization (aCGH) was introduced for the routine screening of patients with intellectual disability), almost all cases have been diagnosed using FISH (96.1%). Only 15 cases (all with an atypical phenotype) were diagnosed with aCGH; the deletion size ranged from 745 to 2904 kb. The deletion was inherited in 15.0% of cases and was of maternal origin in 85.5% of the latter. This is the largest yet documented cohort of patients with 22q11.2DS (the most commonly diagnosed microdeletion) from the same population. French cytogenetics laboratories diagnosed at least 108 affected patients (including fetuses) per year from among a national population of ∼66 million. As observed for prenatal diagnoses, CHDs were the most frequently detected malformation in postnatal diagnoses. The most common CHD in postnatal diagnoses was an isolated septal defect.

Hyperthyroidism–cause of depression and psychosis: a case report

PubMed Central

Marian, G; Ionescu, BE; Ghinea, D

2009-01-01

Psychiatric symptoms have been reported quite frequently in certain thyroid diseases, but more frequently in association with hypothyroidism. Thyrotoxicosis can be associated with various psychiatric symptoms, such as emotional lability, anxiety, restlessness and rarely frank psychosis. Psychotic symptoms in the context of hyperthyroidism typically present as an affective psychosis. The link between psychosis and hyperthyroidism is poorly understood. Because of this association of psychiatric symptoms is important to exclude a somatic cause, when assessing a patient first. We present the case of young woman who was followed over 2 years and who initially presented to psychiatric consultation for depressive symptoms, after being diagnosed with hyperthyroidism and specific therapy instituted, but who developed psychotic symptoms. PMID:20108759

Trident sign trumps Aquaporin-4-IgG ELISA in diagnostic value in a case of longitudinally extensive transverse myelitis.

PubMed

Jolliffe, Evan A; Keegan, B Mark; Flanagan, Eoin P

2018-04-21

Longitudinally-extensive T2-hyperintense spinal cord lesions (≥3 vertebral segments) are associated with neuromyelitis optical spectrum disorder but occur with other disorders including spinal cord sarcoidosis. When linear dorsal subpial enhancement is accompanied by central cord/canal enhancement the axial post-gadolinium sequences may reveal a "trident" pattern that has previously been shown to be strongly suggestive of spinal cord sarcoidosis. We report a case in which the patient was initially diagnosed with neuromyelitis optical spectrum disorder, but where the "trident" sign ultimately led to the correct diagnosis of spinal cord sarcoidosis. Copyright © 2018. Published by Elsevier B.V.

Necrotizing Fasciitis of the lower extremity: a case report and current concept of diagnosis and management

PubMed Central

Naqvi, GA; Malik, SA; Jan, W

2009-01-01

Necrotizing fasciitis is a severe soft tissue infection characterized by rapidly progressing necrosis, involving subcutaneous tissues. This rare condition carries high mortality rate and require prompt diagnosis and urgent treatment with radical debridement and antibiotics. We describe a case of 21-year old man who presented with the history of trivial injury to the knee. Initially he was admitted and treated for septic arthritis but later was diagnosed as necrotizing fasciitis which was successfully treated with no ill effects what so ever from this devastating condition. This rare condition has been reported in literature but still early diagnosis, which is a key for successful treatment, remains a challenge. PMID:19527519

Successful salvage treatment of native valve Enterococcus faecalis infective endocarditis with telavancin: two case reports.

PubMed

Thompson, Mickala M; Hassoun, Ali

2017-07-01

Infective endocarditis (IE) one-year mortality rates approach 40%. Here, we report two native valve Enterococcus faecalis IE cases in patients successfully treated with telavancin. An 88-year-old with mitral valve endocarditis and a penicillin allergy, initially treated with intravenous vancomycin, was switched to telavancin. A 69-year-old, who previously received amoxicillin and intravenous vancomycin for presumed enterococcal bacteraemia, was diagnosed with dual valve endocarditis for which he received telavancin. Both received six weeks of telavancin. Neither had telavancin-related adverse events, evidence of infection at six months, nor required telavancin dosing adjustments. Documented use of novel treatments for serious enterococcal infections is needed.

IgG4-Related Disease Simulating Carcinoma Colon With Diffuse Peritoneal Carcinomatosis on 18F-FDG PET/CT.

PubMed

Vadi, Shelvin Kumar; Parihar, Ashwin Singh; Kumar, Rajender; Singh, Harmandeep; Mittal, Bhagwant Rai; Bal, Amanjit; Sinha, Saroj Kumar

2018-05-14

IgG4-related disease (IgG4-RD) continues to be a diagnostic challenge and a great mimicker of malignancies. We report here a case of young man who presented with subacute intestinal obstruction with initial imaging and clinical features suggestive of carcinoma colon. 18F-FDG PET/CT showed diffuse peritoneal carcinomatosis pattern typically seen with abdominal malignancies. However, the histopathology and the raised IgG4 levels diagnosed it to be IgG4-RD. Although 18F-FDG PET/CT has typical patterns corresponding to the multisystemic involvement of IgG4-RD, the index case did not show any such findings.

Ingenol Mebutate for Recalcitrant Chronic Actinic Cheilitis.

PubMed

Tzika, Evangelia; Masouyé, Isabelle; Mühlstädt, Michael; Laffitte, Emmanuel

2016-01-01

We present the case of a healthy 76-year-old man with a whitish, hyperkeratotic lesion of the lower lip diagnosed as actinic cheilitis (AC) previously treated with classic red light photodynamic therapy 5 years ago. Initial treatment with 5% imiquimod cream - also with intensified application - failed. After 2 cycles thrice daily, consecutive applications of 150 μg/g ingenol mebutate gel at 3 weeks' interval, the lesions cleared completely. Surprisingly, no pustular or crusting reaction or other side effect occurred contrary to expectation. Remission was stable for 10 months, when recurrence occurred. Ingenol mebutate proved to be a feasible and safe treatment in this otherwise refractory case of AC. © 2016 S. Karger AG, Basel.

Radiobiological compensation: A case study of uterine cervix cancer with concurrent chemotherapy

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

Herrera, Higmar; Yanez, Elvia; Lopez, Jesus

2012-10-23

The case of a patient diagnosed with uterine cervix cancer is presented as an example of the clinical application of the radiobiological compensation method implemented at Centro Estatal de Cancerologia de Durango. Radiotherapy treatment was initially modified to compensate for the chemotherapy component and, as medical complications arose during treatment delivery resulting in an 18 days gap, new compensation followed. All physical and radiobiological assumptions to calculate the Biologically Effective Dose in the external beam and brachytherapy parts of the treatment are presented. Good local control of the tumor was achieved, the theoretical tolerance limits for the organs at riskmore » were not surpassed and the patient manifested no extensive morbidity.« less

Urinary urge seizure semiology localization by intracranial monitoring.

PubMed

Rengarajan, Ronak; Shamim, Sadat

2018-01-01

Seizures may present with many different symptom complexes. Seizure semiologies have localization value when contemplating surgical therapies. Epilepsy presenting as a desire to micturate is exceedingly rare, with only a handful of published cases. We present a patient who had initially unexplained childhood urinary urge that progressed into lapses of memory and confusion that was eventually diagnosed as epilepsy in adulthood. Due to refractoriness to medical management, our patient's epileptic focus was localized through both noninvasive and invasive subdural electrode arrays to the nondominant medial temporal lobe and successfully treated with an amygdalohippocampectomy. Only one other case of ictal urinary urgency seizures has been recorded with intracranial electroencephalogram monitoring in the literature.

Disseminated Mycobacterium chimaera infection after open heart surgery in an Italian woman: a case report and a review of the literature.

PubMed

Chiesi, Sheila; Piacentini, Daniela; Salerno, Nicola Duccio; Luise, Dora; Peracchi, Marta; Concia, Ercole; Cazzadori, Angelo; Piovan, Enrico; Lanzafame, Massimiliano

2017-09-01

We report the first Italian case of Mycobacterium chimaera disseminated infection in a patient with a history of cardiac surgery. The patient was initially diagnosed with sarcoidosis and started on immunosuppressive therapy. Ten months later she developed a vertebral osteomyelitis: M. chimaera was isolated from bone specimen. A review of the literature shows that M. chimaera infection occurs specifically in this population of patients, due to contamination of heater-cooler units used during cardiosurgery. Devices responsible for the transmission were produced by Sorin Group Deutschland. Mycobacterium chimaera infection should be included in the differential diagnosis for patients undergoing cardiac surgery.

Radiobiological compensation: A case study of uterine cervix cancer with concurrent chemotherapy

NASA Astrophysics Data System (ADS)

Herrera, Higmar; Yañez, Elvia; López, Jesús

2012-10-01

The case of a patient diagnosed with uterine cervix cancer is presented as an example of the clinical application of the radiobiological compensation method implemented at Centro Estatal de Cancerología de Durango. Radiotherapy treatment was initially modified to compensate for the chemotherapy component and, as medical complications arose during treatment delivery resulting in an 18 days gap, new compensation followed. All physical and radiobiological assumptions to calculate the Biologically Effective Dose in the external beam and brachytherapy parts of the treatment are presented. Good local control of the tumor was achieved, the theoretical tolerance limits for the organs at risk were not surpassed and the patient manifested no extensive morbidity.

Transient juvenile myelomonocytic leukemia in the setting of PTPN11 mutation and Noonan syndrome with secondary development of monosomy 7.

PubMed

O'Halloran, Katrina; Ritchey, A Kim; Djokic, Miroslav; Friehling, Erika

2017-07-01

Juvenile myelomonocytic leukemia (JMML) is a rare childhood neoplasm with poor prognosis except in the setting of Noonan syndrome, where prognosis is generally favorable. We present the case of a child with JMML in the setting of germline PTPN11 mutation and Noonan syndrome with suspected secondary development of monosomy 7 in the bone marrow. Diagnosed shortly after birth, she has been managed with active surveillance alone. Myeloblast percentages initially fluctuated; however, bone marrow biopsy at 4 years of age showed spontaneous remission despite persistence of the monosomy 7 clone, supporting a cautious approach in similar cases. © 2017 Wiley Periodicals, Inc.

Hyperthyroidism--cause of depression and psychosis: a case report.

PubMed

Marian, G; Nica, E A; Ionescu, B E; Ghinea, D

2009-01-01

Psychiatric symptoms have been reported quite frequently in certain thyroid diseases, but more frequently in association with hypothyroidism. Thyrotoxicosis can be associated with various psychiatric symptoms, such as emotional lability, anxiety, restlessness and rarely frank psychosis. Psychotic symptoms in the context of hyperthyroidism typically present as an affective psychosis. The link between psychosis and hyperthyroidism is poorly understood. Because of this association of psychiatric symptoms is important to exclude a somatic cause, when assessing a patient first. We present the case of young woman who was followed over 2 years and who initially presented to psychiatric consultation for depressive symptoms, after being diagnosed with hyperthyroidism and specific therapy instituted, but who developed psychotic symptoms.

Urinary urge seizure semiology localization by intracranial monitoring

PubMed Central

Rengarajan, Ronak; Shamim, Sadat

2018-01-01

ABSTRACT Seizures may present with many different symptom complexes. Seizure semiologies have localization value when contemplating surgical therapies. Epilepsy presenting as a desire to micturate is exceedingly rare, with only a handful of published cases. We present a patient who had initially unexplained childhood urinary urge that progressed into lapses of memory and confusion that was eventually diagnosed as epilepsy in adulthood. Due to refractoriness to medical management, our patient's epileptic focus was localized through both noninvasive and invasive subdural electrode arrays to the nondominant medial temporal lobe and successfully treated with an amygdalohippocampectomy. Only one other case of ictal urinary urgency seizures has been recorded with intracranial electroencephalogram monitoring in the literature. PMID:29686574

Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous.

PubMed

Chang-Godinich, A; Paysse, E A; Coats, D K; Holz, E R

1999-04-01

To report an unusual case of familial exudative vitreoretinopathy in an infant. Case report. A 6-day-old girl had unilateral microphthalmia in the right eye, with a retrolental plaque initially diagnosed as persistent hyperplastic primary vitreous. Three months later, peripheral retinal vascular changes and a fibrovascular ridge were noted in the left eye, suggesting familial exudative vitreoretinopathy as the cause in both eyes. The microphthalmic right eye was unsalvageable. The left eye developed an exudative retinal detachment despite photocoagulation of the peripheral avascular retina. Additional cryotherapy resulted in resolution of the detachment and regression of the vascular changes. With highly asymmetric involvement, neonatal familial exudative vitreoretinopathy can mimic persistent hyperplastic primary vitreous. Fellow eye involvement can progress rapidly.

Sarcoidosis of the cauda equina mimicking Guillain-Barré syndrome.

PubMed

Shah, Jagdish R; Lewis, Richard A

2003-04-15

Neurosarcoidosis is a great mimicker. It is often difficult to diagnose particularly when there is no prior history of systemic sarcoidosis. Although certain sites of the neuraxis are more commonly involved than others, any site of the central or peripheral nervous system can be affected. We report a case of sarcoidosis involving the cauda equina in a 38-year-old African American male without prior history of systemic disease. Initial clinical presentation was suggestive of Guillian-Barré syndrome, but the evaluation proved this case to be neurosarcoidosis involving the cauda equina. We have followed this patient for 8 years, and he remains clinically stable on prednisone 5 mg/day.

Stochastic agent-based modeling of tuberculosis in Canadian Indigenous communities.

PubMed

Tuite, Ashleigh R; Gallant, Victor; Randell, Elaine; Bourgeois, Annie-Claude; Greer, Amy L

2017-01-13

In Canada, active tuberculosis (TB) disease rates remain disproportionately higher among the Indigenous population, especially among the Inuit in the north. We used mathematical modeling to evaluate how interventions might enhance existing TB control efforts in a region of Nunavut. We developed a stochastic, agent-based model of TB transmission that captured the unique household and community structure. Evaluated interventions included: (i) rapid treatment of active cases; (ii) rapid contact tracing; (iii) expanded screening programs for latent TB infection (LTBI); and (iv) reduced household density. The outcomes of interest were incident TB infections and total diagnosed active TB disease over a 10- year time period. Model-projected incidence in the absence of additional interventions was highly variable (range: 33-369 cases) over 10 years. Compared to the 'no additional intervention' scenario, reducing the time between onset of active TB disease and initiation of treatment reduced both the number of new TB infections (47% reduction, relative risk of TB = 0.53) and diagnoses of active TB disease (19% reduction, relative risk of TB = 0.81). Expanding general population screening was also projected to reduce the burden of TB, although these findings were sensitive to assumptions around the relative amount of transmission occurring outside of households. Other potential interventions examined in the model (school-based screening, rapid contact tracing, and reduced household density) were found to have limited effectiveness. In a region of northern Canada experiencing a significant TB burden, more rapid treatment initiation in active TB cases was the most impactful intervention evaluated. Mathematical modeling can provide guidance for allocation of limited resources in a way that minimizes disease transmission and protects population health.

A case of peritoneal metastasis during treatment for hypopharyngeal squamous cell carcinoma.

PubMed

Wakasaki, Takahiro; Omori, Hirofumi; Sueyoshi, Shintaro; Rikimaru, Fumihide; Toh, Satoshi; Taguchi, Kenichi; Higaki, Yuichiro; Morita, Masaru; Masuda, Muneyuki

2016-10-18

Advanced head and neck squamous cell carcinomas frequently develop distant metastases to limited organs, including the lungs, bone, mediastinal lymph nodes, brain, and liver. Peritoneal carcinomatosis as an initial distant metastasis from hypopharyngeal squamous cell carcinoma is quite rare. A 75-year-old man diagnosed with hypopharyngeal squamous cell carcinoma and his clinical stage was determined as T2N2cM0. Notably, the right retropharyngeal lymph node surrounded more than half of the right internal carotid artery. Concomitant conformal radiation therapy was administered for the primary hypopharyngeal lesion, and the whole neck and tumor response was evaluated at this point according to our algorithm-based chemoradioselection protocol. As the tumor responses at both the primary and lymph nodes were poor, with the right retropharyngeal lymph node in particular demonstrating mild enlargement, we performed a radical surgery: pharyngolaryngectomy, bilateral neck dissection, and reconstruction of the cervical esophagus with a free jejunal flap. Then, postoperative CRT was performed. During these therapies, the patient developed a fever and mild abdominal pain, which was associated with an increased C-reactive protein level. Contrast-enhanced computed tomography from the neck to the pelvis demonstrated mild peritoneal hypertrophy and ascites with no evidence of recurrent and/or metastatic tumor formation. We initially diagnosed acute abdomen symptoms as postoperative ileus. However, cytological examination of the refractory ascites resulted in a diagnosis of peritoneal carcinomatosis. Owing to rapid disease progress, the patient died 1.5 months after abdominal symptom onset. The present case is the second reported case of head and neck squamous cell carcinoma with peritoneal carcinomatosis as an incipient distant metastasis. Therefore, peritoneal carcinomatosis should be considered a differential diagnosis when acute abdomen is noted during treatment for head and neck cancers.

A hypothesis-driven physical examination learning and assessment procedure for medical students: initial validity evidence.

PubMed

Yudkowsky, Rachel; Otaki, Junji; Lowenstein, Tali; Riddle, Janet; Nishigori, Hiroshi; Bordage, Georges

2009-08-01

Diagnostic accuracy is maximised by having clinical signs and diagnostic hypotheses in mind during the physical examination (PE). This diagnostic reasoning approach contrasts with the rote, hypothesis-free screening PE learned by many medical students. A hypothesis-driven PE (HDPE) learning and assessment procedure was developed to provide targeted practice and assessment in anticipating, eliciting and interpreting critical aspects of the PE in the context of diagnostic challenges. This study was designed to obtain initial content validity evidence, performance and reliability estimates, and impact data for the HDPE procedure. Nineteen clinical scenarios were developed, covering 160 PE manoeuvres. A total of 66 Year 3 medical students prepared for and encountered three clinical scenarios during required formative assessments. For each case, students listed anticipated positive PE findings for two plausible diagnoses before examining the patient; examined a standardised patient (SP) simulating one of the diagnoses; received immediate feedback from the SP, and documented their findings and working diagnosis. The same students later encountered some of the scenarios during their Year 4 clinical skills examination. On average, Year 3 students anticipated 65% of the positive findings, correctly performed 88% of the PE manoeuvres and documented 61% of the findings. Year 4 students anticipated and elicited fewer findings overall, but achieved proportionally more discriminating findings, thereby more efficiently achieving a diagnostic accuracy equivalent to that of students in Year 3. Year 4 students performed better on cases on which they had received feedback as Year 3 students. Twelve cases would provide a reliability of 0.80, based on discriminating checklist items only. The HDPE provided medical students with a thoughtful, deliberate approach to learning and assessing PE skills in a valid and reliable manner.

Pirfenidone as salvage treatment for refractory bleomycin-induced lung injury: a case report of seminoma.

PubMed

Sakamoto, Koji; Ito, Satoru; Hashimoto, Naozumi; Hasegawa, Yoshinori

2017-08-07

Bleomycin-induced lung injury, a major complication of chemotherapy for germ cell tumors, occasionally fails to respond to the standard treatment with corticosteroids and develops into severe respiratory insufficiency. Little is known about salvage treatment for refractory cases. A 63-year-old man who had been diagnosed with stage I seminoma and undergone a high orchiectomy 1 year previously developed swelling of his left iliac lymph node and was diagnosed with a recurrence of the seminoma. He was administered a standard chemotherapy regimen of cisplatin, etoposide, and bleomycin. At the end of second cycle, he developed a dry cough and fever that was accompanied by newly-identified bilateral infiltrates on chest X-ray. Despite initiation of oral prednisolone, his exertional dyspnea and decline in pulmonary functions continued to be aggravated. High-dose pulse treatment with methylprednisolone was introduced and improved his symptoms and radiologic findings. However, the maintenance dose of oral prednisolone allowed reactivation of the disease with evidence of newly-developed bilateral lung opacities on high-resolution CT scans. Considering his glucose intolerance and cataracts as complications of corticosteroid treatment, administration of pirfenidone was initiated with the patient's consent. Pirfenidone at 1800 mg/day was well tolerated, and resolved his symptoms and abnormal opacities on a chest CT scan. Subsequently, the dose of prednisolone was gradually tapered without worsening of the disease. At the most recent follow-up, he was still in complete remission of seminoma with a successfully tapered combination dose of prednisolone and pirfenidone. Pirfenidone, a novel oral agent with anti-inflammatory and -fibrotic properties, should be considered as a salvage drug for refractory cases of bleomycin-induced lung injury.

Screening for impulse control symptoms in patients with de novo Parkinson disease: a case-control study.

PubMed

Weintraub, Daniel; Papay, Kimberly; Siderowf, Andrew

2013-01-08

To determine the frequency and correlates of impulse control and related behavior symptoms in patients with de novo, untreated Parkinson disease (PD) and healthy controls (HCs). The Parkinson's Progression Markers Initiative is an international, multisite, case-control clinical study conducted at 21 academic movement disorders centers. Participants were recently diagnosed, untreated PD patients (n = 168) and HCs (n = 143). The outcome measures were presence of current impulse control and related behavior symptoms based on recommended cutoff points for the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease (QUIP)-Short Form. There were 311 participants with complete QUIP data. Frequencies of impulse control and related behavior symptoms for patients with PD vs HCs were as follows: gambling (1.2% vs. 0.7%), buying (3.0% vs. 2.1%), sexual behavior (4.2% vs. 3.5%), eating (7.1% vs. 10.5%), punding (4.8% vs. 2.1%), hobbyism (5.4% vs. 11.9%), walkabout (0.6% vs. 0.7%), and any impulse control or related behavior (18.5% vs. 20.3%). In multivariable models, a diagnosis of PD was not associated with symptoms of any impulse control or related behavior (p ≥ 0.10 in all cases). PD itself does not seem to confer an increased risk for development of impulse control or related behavior symptoms, which further reinforces the reported association between PD medications and impulse control disorders in PD. Given that approximately 20% of patients with newly diagnosed PD report some impulse control or related behavior symptoms, long-term follow-up is needed to determine whether such patients are at increased risk for impulse control disorder development once PD medications are initiated.

Multimodal ultrasonographic assessment of leiomyosarcoma of the femoral vein in a patient misdiagnosed as having deep vein thrombosis: A case report.

PubMed

Zhang, Mei; Yan, Feng; Huang, Bin; Wu, Zhoupeng; Wen, Xiaorong

2017-11-01

Primary leiomyosarcoma (LMS) of the vein is a rare tumor that arises from the smooth muscle cells of the vessel wall and has an extremely poor prognosis. This tumor can occur in vessels such as the inferior vena cava, great saphenous vein, femoral vein, iliac vein, popliteal vein, and renal vein; the inferior vena cava is the most common site. LMS of the femoral vein can result in edema and pain in the lower extremity; therefore, it is not easy to be differentiated from deep vein thrombosis (DVT). Moreover, virtually no studies have described the ultrasonographic features of LMS of the vein in detail. We present a case of a 55-year-old woman with LMS of the left femoral vein that was misdiagnosed as having deep vein thrombosis (DVT) on initial ultrasonographic examination. The patient began to experience edema and pain in her left leg seven months previously. She was diagnosed as having DVT on initial ultrasonographic examination, but the DVT treatment that she had received for 7 months failed to improve the status of her left lower limb. She subsequently underwent re-examination by means of a multimodal ultrasonographic imaging approach (regular B-mode imaging, color Doppler imaging, pulsed-wave Doppler imaging, contrast-enhanced ultrasonography), which confirmed a diagnosis of LMS. This patient was treated successfully with surgery. This case demonstrates that use of multiple ultrasonographic imaging techniques can be helpful to diagnose LMS accurately. Detection of vasculature in a dilated vein filled with a heterogeneous hypoechoic substance on ultrasonography is a sign of a tumor. The pitfall of misdiagnosing this tumor as DVT is a useful reminder.

The impact of alternative diagnoses on the utility of influenza-like illness case definition to detect the 2009 H1N1 pandemic.

PubMed

Rumoro, Dino P; Bayram, Jamil D; Silva, Julio C; Shah, Shital C; Hallock, Marilyn M; Gibbs, Gillian S; Waddell, Michael J

2012-01-01

To investigate the impact of excluding cases with alternative diagnoses on the sensitivity and specificity of the Centers for Disease Control and Prevention's (CDC) influenza-like illness (ILI) case definition in detecting the 2009 H1N1 influenza, using Geographic Utilization of Artificial Intelligence in Real-Time for Disease Identification and Alert Notification, a disease surveillance system. Retrospective cross-sectional study design. Emergency department of an urban tertiary care academic medical center. 1,233 ED cases, which were tested for respiratory viruses from September 5, 2009 to May 5, 2010. The main outcome measures were positive predictive value, negative predictive value, sensitivity, specificity, and accuracy of the ILI case definition (both including and excluding alternative diagnoses) to detect H1N1. There was a significant decrease in sensitivity (chi2 = 9.09, p < 0.001) and significant improvement in specificity (chi2 = 179, p < 0.001), after excluding cases with alternative diagnoses. When early detection of an influenza epidemic is of prime importance, pursuing alternative diagnoses as part of CDC's ILI case definition may not be warranted for public health reporting due to the significant decrease in sensitivity, in addition to the resources required for detecting these alternative diagnoses.

Actinic Prurigo Cheilitis: A Clinicopathologic Review of 75 Cases.

PubMed

Plaza, Jose A; Toussaint, Sonia; Prieto, Victor G; Mercadillo, Patricia; Diez de Medina, Juan C; Lourenco, Silvia; Batdorf, Bjorn; Sangueza, Martin

2016-06-01

Actinic prurigo (AP) is a chronic idiopathic photodermatosis that primarily affects American Indians in the United States and Mestizos in Latin American countries. Clinically, the onset of the disease is usually in the first decade of life but may appear initially in adult life, and it is characterized by symmetric involvement of sun-exposed areas of the skin, particularly areas of the face, resulting in polymorphic erythematous papules, macules, and plaques in different stages of evolution. Lower lip involvement includes swelling, scaling, fissures, hyperpigmentation, and ulcerations of the vermilion border. and in some cases could represent the only manifestation of the disease. The histopathologic features of AP have been studied; however, there is a controversy regarding whether AP cheilitis has distinct histopathologic features that could allow accurate separation from other specific and nonspecific forms of cheilitis. The diagnosis can be challenging, mainly when lip lesions are the only manifestation of the disease. In this study, the authors investigate the clinicopathologic features of 75 cases of AP cheilitis to provide further criteria for its diagnosis and classification. All 75 patients presented with lip lesions. Thirty-three cases were diagnosed as AP cheilitis with cutaneous lesions and 42 cases were diagnosed as AP cheilitis without cutaneous lesions (only lip lesions). Histologically, of the 33 cases with AP cheilitis with cutaneous lesions, 17 (52%) cases showed follicular cheilitis, and of the 42 cases that had only lip lesions, 18 (43%) cases showed follicular cheilitis. Histologically, AP cheilitis can present as follicular cheilitis; thus, supporting the diagnosis. Also, our findings confirm that lip lesions can present as the only manifestation of the disease, showing typical histological and clinical features. This form of cheilitis has not being well described in the dermatologic and dermatopathologic literature.

Wind turbines and health: An examination of a proposed case definition.

PubMed

McCunney, Robert J; Morfeld, Peter; Colby, W David; Mundt, Kenneth A

2015-01-01

Renewable energy demands have increased the need for new wind farms. In turn, concerns have been raised about potential adverse health effects on nearby residents. A case definition has been proposed to diagnose "Adverse Health Effects in the Environs of Industrial Wind Turbines" (AHE/IWT); initially in 2011 and then with an update in 2014. The authors invited commentary and in turn, we assessed its scientific merits by quantitatively evaluating its proposed application. We used binomial coefficients to quantitatively assess the potential of obtaining a diagnosis of AHE/IWT. We also reviewed the methodology and process of the development of the case definition by contrasting it with guidelines on case definition criteria of the USA Institute of Medicine. The case definition allows at least 3,264 and up to 400,000 possibilities for meeting second- and third-order criteria, once the limited first-order criteria are met. IOM guidelines for clinical case definitions were not followed. The case definition has virtually no specificity and lacks scientific support from peer-reviewed literature. If applied as proposed, its application will lead to substantial potential for false-positive assessments and missed diagnoses. Virtually any new illness that develops or any prevalent illness that worsens after the installation of wind turbines within 10 km of a residence could be considered AHE/IWT if the patient feels better away from home. The use of this case definition in the absence of a thorough medical evaluation with appropriate diagnostic studies poses risks to patients in that treatable disorders would be overlooked. The case definition has significant potential to mislead patients and its use cannot be recommended for application in any health-care or decision-making setting.

Wind turbines and health: An examination of a proposed case definition

PubMed Central

McCunney, Robert J.; Morfeld, Peter; Colby, W. David; Mundt, Kenneth A.

2015-01-01

Renewable energy demands have increased the need for new wind farms. In turn, concerns have been raised about potential adverse health effects on nearby residents. A case definition has been proposed to diagnose “Adverse Health Effects in the Environs of Industrial Wind Turbines” (AHE/IWT); initially in 2011 and then with an update in 2014. The authors invited commentary and in turn, we assessed its scientific merits by quantitatively evaluating its proposed application. We used binomial coefficients to quantitatively assess the potential of obtaining a diagnosis of AHE/IWT. We also reviewed the methodology and process of the development of the case definition by contrasting it with guidelines on case definition criteria of the USA Institute of Medicine. The case definition allows at least 3,264 and up to 400,000 possibilities for meeting second- and third-order criteria, once the limited first-order criteria are met. IOM guidelines for clinical case definitions were not followed. The case definition has virtually no specificity and lacks scientific support from peer-reviewed literature. If applied as proposed, its application will lead to substantial potential for false-positive assessments and missed diagnoses. Virtually any new illness that develops or any prevalent illness that worsens after the installation of wind turbines within 10 km of a residence could be considered AHE/IWT if the patient feels better away from home. The use of this case definition in the absence of a thorough medical evaluation with appropriate diagnostic studies poses risks to patients in that treatable disorders would be overlooked. The case definition has significant potential to mislead patients and its use cannot be recommended for application in any health-care or decision-making setting. PMID:26168947

Abrupt evolution of Philadelphia chromosome-positive acute myeloid leukemia in myelodysplastic syndrome.

PubMed

Fukunaga, Akiko; Sakoda, Hiroto; Iwamoto, Yoshihiro; Inano, Shojiro; Sueki, Yuki; Yanagida, Soshi; Arima, Nobuyoshi

2013-03-01

Myelodysplastic syndrome (MDS) is a clonal disorder arising from an alteration in multipotent stem cells, which lose the ability of normal proliferation and differentiation. Disease progression occurs in approximately 30% MDS cases. Specific chromosomal alterations seem responsible for each step in the evolution of acute myeloid leukemia (AML). Multiple genetic aberrations occur during the clonal evolution of MDS; however, few studies report the presence of the Philadelphia (Ph) chromosome. We report a rare case of Ph-positive AML, which evolved during the course of low-risk MDS. The patient, a 76-year-old man with mild leukocytopenia, was diagnosed with MDS, refractory neutropenia (RN). After 1.5 yr, his peripheral blood and bone marrow were suddenly occupied by immature basophils and myeloblasts, indicating the onset of AML. A bone marrow smear showed multilineage dysplasia, consistent with MDS evolution. Chromosomal analysis showed an additional t(9;22)(q34;q11) translocation. Because progression occurred concurrently with emergence of the Ph chromosome, we diagnosed this case as Ph-positive AML with basophilia arising from the clonal evolution of MDS. The patient was initially treated with nilotinib. A hematological response was soon achieved with disappearance of the Ph chromosome in the bone marrow. Emergence of Ph-positive AML in the course of low-risk MDS has rarely been reported. We report this case as a rare clinical course of MDS. © 2012 John Wiley & Sons A/S.

Infectious diseases related aeromedical evacuation of French soldiers in a level 4 military treatment facility: a ten year retrospective analysis.

PubMed

Rapp, C; Aoun, O; Ficko, C; Andriamanantena, D; Flateau, C

2014-01-01

Infectious diseases are a frequent cause of morbidity in French troops deployed abroad. They are usually minor in severity and managed by field practitioners. We aimed to describe the etiological spectrum of travel-related infections in French soldiers evacuated to a level 4 military treatment facility. We evaluated the diagnoses of all service members who were medically evacuated from abroad to our infectious diseases department from January 1, 2004 to October 30, 2013. One hundred and twenty five cases, median age 32 years were referred, 117 (94%) were male and 78 (62%) were from the Army. Main areas of deployment were Africa in 80 cases (64%), Afghanistan in 15 cases (12%), and French Guiana in 10 cases (8%). Median time between initial consultation and hospitalization in the reference center was 5 days (IQ 2-7 d). Thirty (24%) immediate aeromedical evacuations were carried out. The top five diagnoses were Plasmodium falciparum malaria (30), fever of unknown origin (15), cerebro-meningeal infections (10), invasive amebiasis (9), and HIV primary infections (9). Thirteen individuals were admitted in ICU. No death was recorded. Infectious diseases were a rare of cause of medevac. Most of them were preventable. Lethal etiologies were represented by malaria and cerebro-meningeal infections. Copyright © 2014 Elsevier Ltd. All rights reserved.

Drug resistance in epithelial ovarian cancer: P-glycoprotein and glutation S-transferase. Can they play an important role in detecting response to platinum-based chemotherapy as a first-line therapy.

PubMed

Simşek, T; Ozbilim, G; Gülkesen, H; Kaya, H; Sargin, F; Karaveli, S

2001-01-01

Drug resistance is important for the treatment of ovarian cancer. P-glycoprotein and glutation S-transferase as resistance markers play an important role in the effectivity of chemotherapeutical agents. The role of P-glycoprotein and glutation S-transferase in the treatment of epithelial ovarian cancer is not well understood. We investigated the relation between P-glycoprotein and glutation S-transferase level for response to platinum-based chemotherapy in epithelial ovarian cancer. We reviewed 30 cases diagnosed as epithelial ovarian cancer and treated with platinum-based chemotherapy in the Department of Obstetrics and Gynecology, Akdeniz University School of Medicine. The material was attained from initial parafin-embeded blocks stained for P-glycoprotein and glutation S-transferase. The cases that were diagnosed and treated before attending our clinic were not enrolled in the study. Mean age was 58.2 (25-70) and mean gravida 4.1 (0-10). Twenty-four patients (80%) were glutation S-transferase positive. Three cases (10%) out of 30 had positive reaction for P-glycoprotein. No difference was revealed regarding chemotherapy response rate among the cases showing glutation S-transferase positivity and P-glycoprotein negativity. Detection of glutation S-transferase and P-glycoprotein levels in epithelial ovarian cancer tissue is not important for response to platinum-based chemotherapy as a first line.

Primary Cicatricial Alopecias: A Review of Histopathologic Findings in 38 Patients from a Clinical University Hospital in Sao Paulo, Brazil

PubMed Central

Moure, Emanuella Rosyane Duarte; Romiti, Ricardo; Machado, Maria Cecília da Matta Rivitti; Valente, Neusa Yuriko Sakai

2008-01-01

BACKGROUND Scarring alopecias are classified into primary and secondary types according to the initial site of inflammation. In primary scarring alopecias, the hair follicle is the main target of destruction; the term secondary cicatricial alopecia implies that follicular destruction is not the primary pathologic event. AIMS To review the histopathologic diagnoses of cases of cicatricial alopecia in order to classify them according to the North American Hair Research Society. PATIENTS AND METHODS Patients with biopsy specimens diagnosed as cicatricial alopecia seen from 2000 to 2005 at the Dermatologic Department of Hospital das Clinicas, São Paulo University Medical School had hematoxylin and eosin, Periodic acid-Schiff and Weigert stained slides reevaluated and sub-typed into different primary cicatricial alopecias. RESULTS Thirty-eight cases of primary cicatricial alopecias were reclassified as: chronic cutaneous lupus (17), lichen planus pilaris (4), pseudopelade of Brocq (12), folliculitis decalvans (3), dissecting folliculitis (1), and non-specific scarring alopecia (1). In our cases, the methods employed allowed an accurate diagnosis in 12 of 13 cases (92.3%) previously classified as non-specific cicatricial alopecias. CONCLUSIONS Even in the late, pauci or non-inflammatory phases, an approach with systematic evaluation of a constellation of criteria in routine hematoxylin and eosin stain, Periodic acid-Schiff and Weigert stain allowed for a more accurate diagnosis of cicatricial alopecias. PMID:19060995

Integrated Source Case Investigation for Tuberculosis (TB) and HIV in the Caregivers and Household Contacts of Hospitalised Young Children Diagnosed with TB in South Africa: An Observational Study

PubMed Central

Lala, Sanjay G.; Little, Kristen M.; Tshabangu, Nkeko; Moore, David P.; Msandiwa, Reginah; van der Watt, Martin; Chaisson, Richard E.; Martinson, Neil A.

2015-01-01

Background Contact tracing, to identify source cases with untreated tuberculosis (TB), is rarely performed in high disease burden settings when the index case is a young child with TB. As TB is strongly associated with HIV infection in these settings, we used source case investigation to determine the prevalence of undiagnosed TB and HIV in the caregivers and household contacts of hospitalised young children diagnosed with TB in South Africa. Methods Caregivers and household contacts of 576 young children (age ≤7 years) with TB diagnosed between May 2010 and August 2012 were screened for TB and HIV. The primary outcome was the detection of laboratory-confirmed, newly-diagnosed TB disease and/or HIV-infection in close contacts. Results Of 576 caregivers, 301 (52·3%) self-reported HIV-positivity. Newly-diagnosed HIV infection was detected in 63 (22·9%) of the remaining 275 caregivers who self-reported an unknown or negative HIV status. Screening identified 133 (23·1%) caregivers eligible for immediate anti-retroviral therapy (ART). Newly-diagnosed TB disease was detected in 23 (4·0%) caregivers. In non-caregiver household contacts (n = 1341), the prevalence of newly-diagnosed HIV infection and TB disease was 10·0% and 3·2% respectively. On average, screening contacts of every nine children with TB resulted in the identification of one case of newly-diagnosed TB disease, three cases of newly diagnosed HIV-infection, and three HIV-infected persons eligible for ART. Conclusion In high burden countries, source case investigation yields high rates of previously undiagnosed HIV and TB infection in the close contacts of hospitalised young children diagnosed with TB. Furthermore, integrated screening identifies many individuals who are eligible for immediate ART. Similar studies, with costing analyses, should be undertaken in other high burden settings–integrated source case investigation for TB and HIV should be routinely undertaken if our findings are confirmed. PMID:26378909

Surgeon-Performed Ultrasound-Guided Fine-Needle Aspiration Cytology (SP-US-FNAC) Shortens Time for Diagnosis of Thyroid Nodules.

PubMed

Gu, Wei Xiang; Tan, Chuen Seng; Ho, Thomas W T

2014-06-01

Ultrasound-guided fine-needle aspiration cytology (US-FNAC) of thyroid nodules is an important diagnostic procedure. In most hospitals, patients are referred to radiologists for US-FNAC, but this often results in a long waiting time before results are available. Surgeon-performed US-FNAC (SP-US-FNAC) during the initial patient consultation attempts to reduce the waiting time but it is not known whether this is as accurate as radiologist-performed US-FNAC (RP-US-FNAC). The aim of this study is to compare the clinical efficiency between SP-US-FNAC and RP-US-FNAC. A retrospective study was performed on patients from the Department of General Surgery, Tan Tock Seng Hospital (TTSH) who underwent an US-FNAC from August 2011 to May 2012. All cases of SP-US-FNAC were performed by a single surgeon. This study compared the rates of positive diagnoses achieved by SP-US-FNAC and RPUS- FNAC as well as the time interval to reach a cytological diagnosis by each group. A total of 40 cases of SP-US-FNAC and 72 cases of RP-US-FNAC were included in the study. SP-US-FNAC resulted in 28 (70%) positive diagnoses and 12 (30%) nondiagnoses while RP-US-FNAC resulted in 47 (65.3%) positive diagnoses and 25 (34.7%) non-diagnoses. These results were comparable (P=0.678). The median time taken to reach a cytological diagnosis was 1 working day for SP-US-FNAC and 29.5 working days for RP-US-FNAC resulting in a shorter interval to reaching a cytological diagnosis for SP-US-FNAC (P<0.001). In the workup of thyroid nodules, SP-US-FNAC is as accurate as RP-US-FNAC but significantly reduces the time taken to reach a cytological diagnosis. This leads to greater clinical efficiency in the management of patients with thyroid nodules, which in turn leads to other benefits such as decreased patient anxiety and increased patient satisfaction.

Acquired resistance L747S mutation in an epidermal growth factor receptor-tyrosine kinase inhibitor-naïve patient: A report of three cases.

PubMed

Yamaguchi, Fumihiro; Fukuchi, Kunihiko; Yamazaki, Yohei; Takayasu, Hiromi; Tazawa, Sakiko; Tateno, Hidetsugu; Kato, Eisuke; Wakabayashi, Aya; Fujimori, Mami; Iwasaki, Takuya; Hayashi, Makoto; Tsuchiya, Yutaka; Yamashita, Jun; Takeda, Norikazu; Kokubu, Fumio

2014-02-01

The purpose of the present study was to report cases of epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI)-naïve patients carrying a mutation associated with acquired resistance to the drug. Gene alterations in 77 lung carcinoma patients were analyzed by collecting and studying curette lavage fluid at the time of diagnosis. PCRs were performed to amplify mutation hotspot regions in EGFR genes. The PCR products were direct-sequenced and the mutations confirmed by resequencing using different primers. Case 1 was a 78-year-old Japanese male diagnosed with stage IB lung adenocarcinoma who was found to have two EGFR mutations, G719S and L747S. Case 2 was a 73-year-old Japanese male diagnosed with stage IV squamous cell lung carcinoma and bone metastasis who had the EGFR mutation, L747S. Case 3 was an 82-year-old Japanese male diagnosed with hyponatremia due to inappropriate secretion of antidiuretic hormone and stage IIIB small cell lung carcinoma (SCLC) who had the EGFR mutation, L747S. Thus, the EGFR mutation L747S associated with acquired EGFR-TKI resistance was detected in two non-small cell lung carcinoma (NSCLC) patients and one SCLC patient, none of whom had ever received EGFR-TKI. The patients were current smokers with stages at diagnosis ranging from IB to IV, and their initial tumors contained resistant clones carrying L747S. L747S may be associated with primary resistance. To the best of our knowledge, this study is the first report of an EGFR mutation associated with resistance to EGFR-TKI in SCLC patients. The early detection of EGFR-TKI resistance mutations may be beneficial in making treatment decisions for lung carcinoma patients, including those with SCLC.

Costs of newly diagnosed neovascular age-related macular degeneration among medicare beneficiaries, 2004-2008.

PubMed

Qualls, Laura G; Hammill, Bradley G; Wang, Fang; Lad, Eleonora M; Schulman, Kevin A; Cousins, Scott W; Curtis, Lesley H

2013-04-01

To examine associations between newly diagnosed neovascular age-related macular degeneration and direct medical costs. This retrospective observational study matched 23,133 Medicare beneficiaries diagnosed with neovascular age-related macular degeneration between 2004 and 2008 with a control group of 92,532 beneficiaries on the basis of age, sex, and race. The index date for each case-control set corresponded to the first diagnosis for the case. Main outcome measures were total costs per patient and age-related macular degeneration-related costs per case 1 year before and after the index date. Mean cost per case in the year after diagnosis was $12,422, $4,884 higher than the year before diagnosis. Postindex costs were 41% higher for cases than controls after adjustment for preindex costs and comorbid conditions. Age-related macular degeneration-related costs represented 27% of total costs among cases in the postindex period and were 50% higher for patients diagnosed in 2008 than in 2004. This increase was attributable primarily to the introduction of intravitreous injections of vascular endothelial growth factor antagonists. Intravitreous injections averaged $203 for patients diagnosed in 2004 and $2,749 for patients diagnosed in 2008. Newly diagnosed neovascular age-related macular degeneration was associated with a substantial increase in total medical costs. Costs increased over time, reflecting growing use of anti-vascular endothelial growth factor therapies.

Remitting seronegative symmetrical synovitis with pitting edema syndrome: followup for neoplasia.

PubMed

Russell, Elizabeth B

2005-09-01

To investigate whether the remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome may represent a paraneoplastic disorder in a significant percentage of cases. Patients diagnosed with RS3PE syndrome at the Medical College of Wisconsin before 1995 were telephoned and asked about their rheumatologic course since initial diagnosis of RS3PE and whether they had been diagnosed with any cancer. If so, permission was obtained to review tissue pathology. Criteria used for diagnosis of RS3PE syndrome included sudden onset of painful diffuse swelling of both hands associated with pitting edema of the dorsa of the hands without other synovitis or evidence of disease, negative rheumatoid factor, absence of radiologic abnormalities, and resolution within 6-12 months without sequelae. Data from the national SEER databank on population incidence of cancers in the appropriate sex, age, and ethnic groups for the years under study were used to assess relative risk for cancer. There were 10 patients for whom followup data were available. Four had a cancer diagnosed following recognition of the RS3PE syndrome; 1 patient developed non-Hodgkin's lymphoma initially diagnosed as hairy cell leukemia after 4 years; 1 developed acute lymphocytic leukemia with hyperdiploidy after 14 years; 1 was diagnosed with male breast cancer after 2.5 years; and 1 developed squamous cell lung cancer 12 months after RS3PE diagnosis. SEER data project an estimated rate of 2-3 cancers in a similar group of 10 patients of the same sex, age, and time period for this geographic area. The small sample size in this longterm followup precludes extrapolation to larger populations but suggests that there may be a slightly higher than expected rate of neoplasia in patients diagnosed with RS3PE syndrome. The interval between onset of RS3PE syndrome and diagnosis of cancer was fairly long, indicating that patients should be monitored for neoplasia with prudent age and sex specific surveillance for an extended period after diagnosis with RS3PE.

Estimation of the incidence of severe fever with thrombocytopenia syndrome in high endemic areas in China: an inpatient-based retrospective study.

PubMed

Huang, Xiaoxia; Wang, Shiwen; Wang, Xianjun; Lyu, Yong; Jiang, Mei; Chen, Deying; Li, Kaichun; Liu, Jingyu; Xie, Shaoyu; Lyu, Tao; Sun, Jie; Xu, Pengpeng; Cao, Minghua; Liang, Mifang; Li, Dexin

2018-02-05

Severe fever with thrombocytopenia syndrome (SFTS) is a severe viral disease caused by SFTSV. It is important to estimate the rate of missed SFTS diagnosis and to further understand the actual incidence in high endemic areas in China. This study was conducted in two high SFTS endemic provinces in 2015. Patients hospitalized in 2014 or within 1 year before investigation were selected after considering their clinical manifestations, specifically, fever, platelet, and white blood cell. During retrospective investigation, sera were collected to detect SFTSV antibodies to assess SFTSV infection. To further understand SFTSV infection, acute phase sera were detected; SFTSV infection rate among a healthy population was also investigated to determine the basic infection level. In total, 246 hospitalized cases were included, including 83 cases (33.7%) with fever, thrombocytopenia and leukopenia, 38 cases (15.4%) with fever and thrombocytopenia but without leukopenia, and 125 cases (50.8%) without fever but with thrombocytopenia and leukopenia. In total, 13 patients (5.3%) were SFTSV IgM antibody-positive, 48 (19.5%) were IgG-positive. Of the 13 IgM-positive cases, 11 (84.6%) were IgG-positive (9 with titres ≥1:400). Seropositive rates of antibodies were high (8.4% for IgM and 30.1% for IgG) in patients with fever, thrombocytopenia and leukopenia. Furthermore, among IgG-positive cases in this group, 76% (19/25) of patients' IgG antibody titres were ≥1:400. Additionally, 28 of 246 cases were initially diagnosed with suspected SFTS and were then excluded, and 218 patients were never diagnosed with SFTS; the seropositive rates of IgM and IgG in these two groups were 25% and 67.9% and 2.8% and 13.3%, respectively. These rates were 64.3% and 21.4% in 14 sera collected during acute phase of the 28 cases mentioned above. Seropositive rate of SFTSV IgG was only 1.3% in the patient-matched healthy group, and no IgM antibody was detected. A preliminary estimate of 8.3% of SFTS cases were missed in SFTS high endemic provinces. The actual SFTS incidence was underestimated. Effective measures such as adding a new SFTS case category - "SFTS clinical diagnosis cases" or using serological detection methods during acute phase should be considered to avoid missed diagnoses.

Changes in sick-leave diagnoses over eleven years in a cohort of young adults initially sick-listed due to low back, neck, or shoulder diagnoses.

PubMed

Festin, Karin; Alexanderson, Kristina

2009-05-01

To study future general and diagnoses-specific sickness absence and disability pension among young adults who were initially on long-term sick-leave due to back, neck, or shoulder diagnoses. Eleven-year prospective cohort study. All 213 adults in a Swedish municipality who, in 1985, were in the age range 25-34 years and had begun a spell of sick-leave lasting > or = 28 days with low back, neck, or shoulder diagnoses. For the time-period 1985-96, data regarding the dates and diagnoses for all periods of sick-leave, and the dates of disability pension, emigration, and death were obtained. Numbers of days of sick-leave and disability pension were analysed separately for each of the 11 years in relation to the number of days at risk for such benefits. The cohort members were on sick-leave or disability pension for 25% of all days at risk during the 11 years of follow-up. A large difference in the number of sick-leave days between the 22% of subjects who were later granted disability pension and the others was already apparent during the first 2 years. During the entire period, up to 21% of the sick-leave days for women and 24% for men entailed psychiatric diagnoses. This cohort of young adults, initially off sick for 4 weeks due to back, neck, or shoulder diagnoses, also had a high level of sickness absence in the subsequent 11 years with other diagnoses.

Malignancy during pregnancy in Japan: an exceptional opportunity for early diagnosis.

PubMed

Sekine, Masayuki; Kobayashi, Yoshiyuki; Tabata, Tsutomu; Sudo, Tamotsu; Nishimura, Ryuichiro; Matsuo, Koji; Grubbs, Brendan H; Enomoto, Takayuki; Ikeda, Tomoaki

2018-02-08

Malignancy during pregnancy has become a significant cause of maternal death in developed countries, likely due to both an older pregnant population, and increases of cervical cancer in younger women. Our aim is to investigate the clinical aspects of malignancy during pregnancy in Japan and to use this information to identify opportunities for earlier detection and treatment. We provided a questionnaire to 1508 secondary or tertiary care hospitals in Japan. We reviewed the clinical characteristics of cases with malignancy during pregnancy for the period of January to December, 2008. From the 760 institutions which responded, we obtained clinical information for 227 unique cases. The questionnaire provided clinical information, including disease site, pregnancy outcome and how the disease was detected. The most common type of malignancy was cervical cancer (n = 162, 71.4%) followed by ovarian (n = 16, 7.0%) and breast cancer (n = 15, 6.6%). Leukemia (n = 7, 3.1%), colon cancer (n = 5, 2.2%), gastric cancer (n = 5, 2.2%), malignant lymphoma (n = 4, 1.8%), thyroid cancer (n = 3, 1.3%), brain cancer (n = 3, 1.3%), endometrial cancer (n = 2, 0.9%), and head and neck cancer (n = 2, 0.9%) accounted for the remaining cases. Overall, gynecological malignancies accounted for 79.3% (95% confidence interval 74.0-84.6) of pregnancy associated malignancies diagnosed in the present study. The majority of cervical cancers, 149 (92.0%) of 162, were diagnosed by a Pap (Papanicolaou) smear during early gestation. Ten (62.5%) of the ovarian cancer cases were diagnosed by ultrasonography during a prenatal checkup or at the time of initial pregnancy diagnosis. Out of 14 breast cancers, only one (7.1%) was diagnosed by screening breast exam. From this study, we reaffirm the clear and significant benefits of prenatal checkups starting at an early gestational age for the detection of gynecological cancers during pregnancy. Conversely, breast cancer detection during pregnancy was poor, suggesting new strategies for early identification of this disease are required.

Synchronous of breast and vulvar Paget's disease: a case report.

PubMed

Cooper, J C; Hew, K E; Audlin, K M; Im, D D; Matsuo, K

2012-01-01

Synchronous Paget's disease of breast and vulva is extremely rare and has only been reported in the literature in one other case. A 58-year-old postmenopausal woman was found to have crusting, bleeding, and discharge from left nipple, as well as vulvar pruritis at the same time. Biopsy of breast lesion demonstrated Paget's disease with an underlying foci of ductal carcinoma in-situ that required total mastectomy of left breast with sentinel node biopsy and breast reconstruction. For vulvar symptoms, the patient was initially diagnosed with dermatitis and topical ointment was prescribed. However, her symptoms persisted for the next several months, and she underwent vulvar biopsy that demonstrated Paget's disease. She underwent partial vulvectomy. Multiple episodes of recurrent vulvar Paget's disease were noted in the postoperative course that medical therapy with Imiquimod and a second partial vulvectomy was performed. Synchronous of breast and vulvar Paget's disease is presented. There was a delay in diagnosing vulvar Paget's disease in this experienced case. While coincidence of breast and vulvar Paget's disease is likely, ectopic mammary tissue in vulvar as well as secondary metastasis from a focal lesion of breast Paget's disease needs to be carefully evaluated whenever the patient complains of vulvar symptoms in the setting of breast Paget's disease.

Acromegaly in a patient with a pulmonary neuroendocrine tumor: case report and review of current literature.

PubMed

Krug, Sebastian; Boch, Michael; Rexin, Peter; Pfestroff, Andreas; Gress, Thomas; Michl, Patrick; Rinke, Anja

2016-06-27

Pulmonary neuroendocrine tumors (NET) form a heterogeneous group of rare diseases. In these tumors, paraneoplastic syndromes have been described to drive the course of the disease, among them acromegaly induced by paraneoplastic secretion of growth hormone-releasing hormone (GHRH). We report the case of a 43 years old patient initially diagnosed with acromegaly accompanied by weight gain and acral enlargement. Subsequently, further diagnostic work-up identified a solitary pulmonary neuroendocrine tumor (NET). Laboratory tests revealed markedly increased growth hormone (GH) and insulin-like growth factor 1 (IGF-1) without GHRH elevation in the absence of pituitary pathologies confirming the paraneoplastic origin of clinical presentation with acromegaly. Curative surgery was performed leading to normalization of the elevated hormone levels and improvement of the clinical symptoms. Immunohistochemically, a typical carcinoid (TC) was seen with low proliferation index and abundant IGF-1 expression. The association of acromegaly and pulmonary NET has only rarely been reported. We present an individual case of paraneoplastic GH- and IGF-1 secretion in a patient with pulmonary NET. Based on their rarity, the knowledge of paraneoplastic syndromes occurring in patients with pulmonary NET such as acromegaly due to paraneoplastic GH- and IGF-1 secretion is mandatory to adequately diagnose and treat these patients.

Immune Thrombocytopenic Purpura Detected with Oral Hemorrhage: a Case Report

PubMed Central

Sugiura, Tsutomu; Yamamoto, Kazuhiko; Murakami, Kazuhiro; Horita, Satoshi; Matsusue, Yumiko; Nakashima, Chie; Kirita, Tadaaki

2018-01-01

Immune thrombocytopenic purpura (ITP) is an immune-mediated acquired disease found in both adults and children. It is characterized by transient or persistent decreases in the platelet count. We report a case of ITP detected based on oral hemorrhagic symptoms. The patient was a 79-year-old female with no significant past medical history. She presented with sudden onset of gingival bleeding and hemorrhagic bullae on the buccal mucosa. Gingival bleeding was difficult to control. Laboratory tests revealed severe thrombocytopenia with a platelet count as low as 2000/μL. Under a provisional diagnosis of a hematological disorder, she was referred to a hematologist. A peripheral smear showed normal-sized platelets. A bone marrow examination revealed increased numbers of megakaryocytes without morphologic abnormalities. The patient was diagnosed with ITP and treated with a combination of pulsed steroid therapy and high-dose immunoglobulin therapy. However, her severe thrombocytopenia was refractory to these treatments. Then, a thrombopoietin receptor agonist was begun as a second-line treatment. Her platelets rapidly increased, and no bleeding complications were reported. Because oral symptoms can be one of the initial manifestations of ITP, dentists should be familiar with the clinical appearance of ITP, and attention must be paid to detect and diagnose unidentified cases. PMID:29854891

Multifocal systemic tuberculosis: the many faces of an old nemesis.

PubMed

Al-Tawfiq, Jaffar A

2007-04-01

Tuberculosis continues to be a major health problem, where an estimated 7-8 million new cases are diagnosed each year. Multifocal tuberculosis is characterized by the presence of large multifocal tuberculous areas in the same or different organs. Difficulty in diagnosis of multifocal tuberculosis and consideration of other diseases may lead to a delay in diagnosing this entity. Here the clinical features and characteristics of three patients with multifocal systemic tuberculosis are described. During the period of 1999-2005, a total of 128 confirmed cases of tuberculosis were identified. Three (2.3%) patients had multifocal systemic tuberculosis. The first case had involvement of the lung, psoas muscle, and the vertebral bodies. The second patient had multiple brain lesions with mediastinal and retroperitoneal lymphadenopathy. The third patient had multiple brain lesions, lymphadenopathy, and colonic lesions initially mimicking a metastatic disease. Mycobacterium tuberculosis was grown from pleural fluid in one patient and from lymph node biopsies in another patient. The third patient had histopathologic evidence of tuberculosis. All patients received standard anti-tuberculous treatment, resulting in a full recovery in two patients, while the third patient had residual weakness. Multifocal systemic tuberculosis may pose a diagnostic challenge and may occur in immunocompetent hosts, in whom this entity generally has a good outcome.

Role of Fine Needle Aspiration Cytology in the Diagnosis of Skin and Superficial Soft Tissue Lesions: A Study of 510 Cases.

PubMed

Bhowmik, Abhijit; Mallick Sinha, Mamata Guha; Barman, Dilip Chandra

2015-01-01

Diseases of the skin and superficial subcutaneous soft tissues present with a wide array of lesions ranging from nonspecific dermatoses and inflammatory lesions to frank neoplasms. Though cytopathology is an excellent diagnostic tool in routine dermatologic practice, studies relating to histopathological and cytological correlation are sparse. The aim of this study was to analyze the concordance rate between cytological and histopathological diagnosis of skin and superficial soft tissue lesions. We retrospectively studied 510 consecutive fine needle aspiration cytology findings of cases from North Bengal Medical College and Hospital and correlated their diagnoses based upon cytological and histopathological grounds. Out of the 510 cases studied, 253 were non neoplastic lesions and 257 were neoplastic. A high degree of concordance was observed (100% for malignant and 96.15% for benign lesions) when these two diagnostic modalities were compared. Histopathological correlation was possible in all malignant, 52/189 (27.51%) of benign and 27/253 (10.67%) of non-neoplastic lesions. Sensitivity and specificity of diagnoses were 95.31% and 97.6%, respectively. It can be safely concluded that fine needle aspiration cytology is a rapid, reliable and fairly accurate tool for initial triage and treatment of skin and superficial soft tissue lesions.

Successful twin pregnancy outcome after in utero exposure to FOLFOX for metastatic colon cancer: a case report and review of the literature.

PubMed

Jeppesen, Johanne Bakker; Østerlind, Kell

2011-12-01

There is limited experience in treating advanced colorectal cancer diagnosed during pregnancy because it is a rare occurrence; however, the incidence of colorectal cancer complicating pregnancy is expected to increase in the future. The combination of cancer and pregnancy is complicated and causes many dilemmas and concerns for the physician and patient. A delay in treatment may compromise maternal survival; however, therapy for the cancer may be harmful to the fetus. We present a case of a 26-year-old woman pregnant with twins who was diagnosed with metastatic colon cancer and treated with 5-fluorouracil, leukovorin, and oxaliplatin (FOLFOX) from 13 weeks gestational age to birth. The patient gave birth to healthy twins without malformations at 33 weeks gestational age. At follow-up examination, the 2-year-old twins are developing normally. The patient herself died 1 year after the initial cancer diagnosis. This shows a case in which the administration of FOLFOX during the second and third trimester of pregnancy caused no fetal harm. These findings are similar to those of previous studies in which systemic chemotherapy administered during the second and third trimester was relatively safe. However, we know that chemotherapy should be avoided during the first trimester. Copyright © 2011 Elsevier Inc. All rights reserved.

Emphysematous pyelonephritis with calculus: Management strategies.

PubMed

Goel, Tanmaya; Reddy, Sreedhar; Thomas, Joseph

2007-07-01

Emphysematous pyelonephritis (EPN) with calculus is well recognized but with very few reports on its treatment. Our aim is to elucidate our experience in its successful management. Over four years, we diagnosed seven cases (eight renal units) of EPN, out of which two patients (three renal units) had EPN with urinary calculi. After the initial conservative management of EPN, the stones were tackled appropriately. EPN was initially managed effectively with antibiotics and supportive care. Once the patient was stable, the stones were cleared in a step-wise fashion. The associated postoperative complications were also tackled efficiently with preservation of renal function. In EPN with stones, nephrectomy is not the sole option available and they can be effectively managed with open / endoscopic measures.

Comparative evaluation of the diagnosis, reporting and investigation of malaria cases in China, 2005-2014: transition from control to elimination for the national malaria programme.

PubMed

Sun, Jun-Ling; Zhou, Sheng; Geng, Qi-Bin; Zhang, Qian; Zhang, Zi-Ke; Zheng, Can-Jun; Hu, Wen-Biao; Clements, Archie C A; Lai, Sheng-Jie; Li, Zhong-Jie

2016-06-27

The elimination of malaria requires high-quality surveillance data to enable rapid detection and response to individual cases. Evaluation of the performance of a national malaria surveillance system could identify shortcomings which, if addressed, will improve the surveillance program for malaria elimination. Case-level data for the period 2005-2014 were extracted from the China National Notifiable Infectious Disease Reporting Information System and Malaria Enhanced Surveillance Information System. The occurrence of cases, accuracy and timeliness of case diagnosis, reporting and investigation, were assessed and compared between the malaria control stage (2005-2010) and elimination stage (2011-2014) in mainland China. A total of 210 730 malaria cases were reported in mainland China in 2005-2014. The average annual incidence declined dramatically from 2.5 per 100 000 people at the control stage to 0.2 per 100 000 at the elimination stage, but the proportion of migrant cases increased from 9.8 % to 41.0 %. Since the initiation of the National Malaria Elimination Programme in 2010, the overall proportion of cases diagnosed by laboratory testing consistently improved, with the highest of 99.0 % in 2014. However, this proportion was significantly lower in non-endemic provinces (79.0 %) than that in endemic provinces (91.4 %) during 2011-2014. The median interval from illness onset to diagnosis was 3 days at the elimination stage, with one day earlier than that at the control stage. Since 2011, more than 99 % cases were reported within 1 day after being diagnosed, while the proportion of cases that were reported within one day after diagnosis was lowest in Tibet (37.5 %). The predominant source of cases reporting shifted from town-level hospitals at the control stage (67.9 % cases) to city-level hospitals and public health institutes at the eliminate stage (69.4 % cases). The proportion of investigation within 3 days after case reporting has improved, from 74.6 % in 2010 to 98.5 % in 2014. The individual case-based malaria surveillance system in China operated well during the malaria elimination stage. This ensured that malaria cases could be diagnosed, reported and timely investigated at local level. However, domestic migrants and overseas populations, as well as cases in the historically malarial non-endemic areas and hard-to-reach area are new challenges in the surveillance for malaria elimination.

[Application of polyclonal break-apart probes in the diagnosis of Xp11.2 translocation renal cell carcinoma].

PubMed

Chen, Xiancheng; Gan, Weidong; Ye, Qing; Yang, Jun; Guo, Hongqian; Li, Dongmei

2014-12-16

To explore the value of self-designed fluorescent in situ hybridization (FISH) polyclonal break-apart probes specific for TFE3 gene in the diagnosis of Xp11.2 translocation renal cell carcinoma. All tissue samples were collected from 2006 to 2013, including Xp11.2 translocation renal cell carcinoma (n = 10), renal clear cell carcinoma (n = 10) and renal papillary cell carcinoma (n = 10). FISH was conducted for paraffin-embedded tumor tissue sections with probes. The types of fluorescence were observed by fluorescent microscopy to determine the existence or non-existence of translocated TFE3 gene. All sections were successfully probed. The split red and green signals within a single nucleus were detected simultaneously in 9 cases of Xp11.2 translocation renal cell carcinoma as diagnosed by traditional pathological and immunohistochemical methods. And it was consistent with the initial diagnosis. Detection of fusion signal in 1/10 and negative FISH result did not conform to the initial diagnosis. The fluorescent types of renal clear cell carcinoma and renal papillary cell carcinoma were all fusion signals. FISH tests were negative for renal clear and papillary cell carcinomas. Xp11.2 translocation renal cell carcinomas diagnosed by traditional pathological and immunohistochemical methods are sometimes misdiagnosed. Detecting the translocation of TFE3 gene with FISH polyclonal break-apart probes is both accurate and reliable for diagnosing Xp11.2 translocation renal cell carcinoma.

Conservative Treatment of Subacute Proximal Hamstring Tendinopathy Using Eccentric Exercises Performed With a Treadmill: A Case Report.

PubMed

Cushman, Daniel; Rho, Monica E

2015-07-01

Case report. Proximal hamstring tendinopathy in runners is characterized by pain with passive hip flexion with the knee extended, active hip extension, and pain with sitting. Relatively little literature exists on the condition, and publications on nonsurgical treatment protocols are even more scarce. Surgical intervention, which comprises the majority of literature for treatment of this condition, is an option for cases that fail to respond to nonsurgical treatment. The patient was a 34-year-old, otherwise healthy male triathlete with unilateral proximal hamstring tendinopathy diagnosed by ultrasound, who had pain only with running and prolonged sitting. After he failed to respond to 4 weeks of eccentric knee flexion and lumbopelvic musculature strengthening exercises, an eccentric hip extensor strengthening program using a treadmill was initiated. This treadmill exercise was performed on a daily basis, in addition to a lumbopelvic musculature strengthening program. The patient noted a decrease in pain within 2 weeks of initiating the new exercise, and was able to return to gradual running after 4 weeks and to speed training after 12 weeks. He returned to competition shortly thereafter and had no recurrence for 12 months after the initiation of therapy. His score on the Victorian Institute of Sport Assessment-proximal hamstring tendons improved from 23 on initial presentation to 83 at 12 weeks after the initiation of therapy. We described the management of a triathlete with subacute proximal hamstring tendinopathy, who responded well to nonsurgical treatment using eccentric hip extension strengthening using a treadmill. Therapy, level 4.

Association Between Juvenile Myelomonocytic Leukemia, Juvenile Xanthogranulomas and Neurofibromatosis Type 1: Case Report and Review of the Literature.

PubMed

Paulus, Samuel; Koronowska, Sandra; Fölster-Holst, Regina

2017-03-01

The occurrence of juvenile myelomonocytic leukemia (JMML), juvenile xanthogranuloma (JXG), and neurofibromatosis type 1 (NF1) together is relatively rare. Approximately only 20 cases have been reported in the literature. It is debated whether children with NF1 and JXG are at higher risk of developing JMML than children with NF1 alone. We present the case of a boy primarily diagnosed with NF1 with coexisting JXG who developed JMML at the age of 22 months. The clinical course from initial presentation to final diagnosis is detailed and the genetic features and hematologic characteristics are discussed. We report this case to underscore the importance of close monitoring of blood count and strict clinical follow-up in children presenting with concurrent NF1 and JXG and provide a possible explanation for this association. © 2017 Wiley Periodicals, Inc.

Bilateral sudden sensorineural hearing loss as a first symptom of infective endocarditis: two case reports.

PubMed

Chroni, M; Prappa, E; Kokkevi, I

2018-04-01

Septic emboli are an unusual cause of sudden sensorineural hearing loss, for which few reports exist in the literature. This paper presents two cases of sudden sensorineural hearing loss, initially considered as idiopathic, but which were caused by septic emboli. Hearing loss in these cases was bilateral, sequential and total. The first patient had mild fever one week prior to their presentation with sudden sensorineural hearing loss; the other patient had no additional symptoms at presentation. These patients were later diagnosed with infective endocarditis, at two and seven months following the sudden sensorineural hearing loss respectively, showing that septic emboli had been the cause of sudden sensorineural hearing loss. Septic emboli should be considered as a possible cause of sudden sensorineural hearing loss in cases of total hearing loss. This form of hearing loss should prompt the otolaryngologist to further investigate for infective endocarditis.

[Hypothyreodism. From the latent functional disorder up to coma].

PubMed

Hintze, G; Derwahl, M

2010-05-01

An autoimmune thyroiditis represents the main reason of hypothyroidism, defined as a lack of thyroid hormone. This autoimmune process results in destruction of functioning thyroid follicles. While subclinical or latent hypothyroidism is defined on the basis of laboratory values (an elevation of TSH with normal peripheral hormone levels), the typical signs and symptoms are associated with hypothyroidism. In about 80% of cases antibodies against thyroid peroxidase can be measured, but only in about 40-50% of cases antibodies against thyroglobulin are detectable. If hypothyrodism has been diagnosed, substitution with levothyroxine should be initiated, with the therapeutic goal to decrease TSH level to the lower normal range. In cases of subclinical hypothyroidism, levothyroxine medication should be started in patients with a high TSH value, positive antibodies and/or the typical ultrasound of autoimmune thyroiditis. However, substitution with levothyroxine in any case of elevated TSH values should be avoided.

Traumatic Buccal Fat Pad Herniation in Young Children: A Systematic Review and Case Report.

PubMed

Kim, Seon-Yeong; Alfafara, Angenine; Kim, Jin-Woo; Kim, Sun-Jong

2017-09-01

Traumatic herniation of a buccal fat pad, predominantly seen in young children, is a rare condition. Because of its rarity and clinical features that resemble tumors, clinicians are faced with challenges at the initial diagnosis. This report describes a case of buccal fat pad herniation with excellent long-term prognosis after surgical relocation and conservative treatment and presents a systematic review of the literature on its management. Through a PubMed search, 811 articles were initially identified. Case series, case reports, technical notes, case and review reports, and retrospective case series were included. After screening and manual review, the sample was narrowed to 35 reports (41 patients) based on eligibility criteria. Articles were included if the standard criteria for traumatic intraoral herniation of buccal fat pad were met. Patients' ages ranged from 4 months to 12 years, with no specific gender predilection. Management consisted of excision (82.9%), relocation (14.6%), and observation (2.4%). Follow-up ranged from 1 week to 4 months. No reports presented a follow-up longer than 4 months; hence, data on long-term prognosis were not reported. For the present case report, a 19-month-old boy diagnosed with traumatic buccal fat pad herniation was successfully treated with surgical relocation and antibiotic support. Twelve-month follow-up showed no esthetic or functional disturbance or recurrence. Traumatic herniation of the buccal fat pad requires special attention at the initial diagnosis. Considering its clinical importance in young children and few studies have reported long-term postresection follow-up, surgical relocation can be regarded as an excellent and more conservative treatment option. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

PubMed Central

Boyd, Patricia Anne; Loane, Maria; Garne, Ester; Khoshnood, Babak; Dolk, Helen

2011-01-01

This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000–2005 from 19 population-based registries in 11 European countries covering 2.5 million births were analysed. Cases included were livebirths diagnosed to 1 year of age, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly (TOPFA). In all, 465 cases of SCT were diagnosed between 2000 and 2005, a prevalence of 1.88 per 10,000 births (95% CI 1.71–2.06). Prevalence of XXX, XXY and XYY were 0.54 (95% CI 0.46–0.64), 1.04 (95% CI 0.92–1.17) and 0.30 (95% CI 0.24–0.38), respectively. In all, 415 (89%) were prenatally diagnosed and 151 (36%) of these resulted in TOPFA. There was wide country variation in prevalence (0.19–5.36 per 1000), proportion prenatally diagnosed (50–100%) and proportion of prenatally diagnosed resulting in TOPFA (13–67%). Prevalence of prenatally diagnosed cases was higher in countries with high prenatal detection rates of Down syndrome. The EUROCAT prevalence rate for SCTs diagnosed prenatally or up to 1 year of age represents 12% of the prevalence expected from cytogenetic studies of newborn babies, as the majority of cases are never diagnosed or are diagnosed later in life. There is a wide variation between European countries in prevalence, prenatal detection and TOPFA proportions, related to differences in screening policies as well as organizational and cultural factors. PMID:20736977

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy.

PubMed

Boyd, Patricia Anne; Loane, Maria; Garne, Ester; Khoshnood, Babak; Dolk, Helen

2011-02-01

This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000-2005 from 19 population-based registries in 11 European countries covering 2.5 million births were analysed. Cases included were livebirths diagnosed to 1 year of age, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly (TOPFA). In all, 465 cases of SCT were diagnosed between 2000 and 2005, a prevalence of 1.88 per 10,000 births (95% CI 1.71-2.06). Prevalence of XXX, XXY and XYY were 0.54 (95% CI 0.46-0.64), 1.04 (95% CI 0.92-1.17) and 0.30 (95% CI 0.24-0.38), respectively. In all, 415 (89%) were prenatally diagnosed and 151 (36%) of these resulted in TOPFA. There was wide country variation in prevalence (0.19-5.36 per 1000), proportion prenatally diagnosed (50-100%) and proportion of prenatally diagnosed resulting in TOPFA (13-67%). Prevalence of prenatally diagnosed cases was higher in countries with high prenatal detection rates of Down syndrome. The EUROCAT prevalence rate for SCTs diagnosed prenatally or up to 1 year of age represents 12% of the prevalence expected from cytogenetic studies of newborn babies, as the majority of cases are never diagnosed or are diagnosed later in life. There is a wide variation between European countries in prevalence, prenatal detection and TOPFA proportions, related to differences in screening policies as well as organizational and cultural factors.

Psychological distress, health and treatment-related factors among individuals initiating ART in Oromia, Ethiopia.

PubMed

Parcesepe, Angela M; Tymejczyk, Olga; Remien, Robert; Gadisa, Tsigereda; Kulkarni, Sarah Gorrell; Hoffman, Susie; Melaku, Zenebe; Elul, Batya; Nash, Denis

2018-03-01

HIV diagnosis may be a source of psychological distress. Late initiation of antiretroviral therapy (ART) and treatment-related beliefs may intensify psychological distress among those recently diagnosed. This analysis describes the prevalence of psychological distress among people living with HIV (PLWH) and examines the association of recent HIV diagnosis, late ART initiation and treatment-related beliefs with psychological distress. The sample includes 1175 PLWH aged 18 or older initiating ART at six HIV clinics in Ethiopia. Psychological distress was assessed with Kessler Psychological Distress Scale. Scores ≥ 29 were categorized as severe psychological distress. Individuals who received their first HIV diagnosis in the past 90 days were categorized as recently diagnosed. Multivariable logistic regression modeled the association of recent diagnosis, late ART initiation and treatment-related beliefs on severe psychological distress, controlling for age, sex, education, area of residence, relationship status, and health facility. Among respondents, 29.5% reported severe psychological distress, 46.6% were recently diagnosed and 31.0% initiated ART late. In multivariable models, relative to those who did not initiate ART late and had longer time since diagnosis, odds of severe psychological distress was significantly greater among those with recent diagnosis and late ART initiation (adjusted OR [aOR]: 1.9 [95% CI 1.4, 2.8]). Treatment-related beliefs were not associated with severe psychological distress in multivariable models. Severe psychological distress was highly prevalent, particularly among those who were recently diagnosed and initiated ART late. Greater understanding of the relationship between psychological distress, recent diagnosis, and late ART initiation can inform interventions to reduce psychological distress among this population. Mental health screening and interventions should be incorporated into routine HIV clinical care from diagnosis through treatment.

Cytomegalovirus Retinitis in Three Pediatric Cases with Acute Lymphoblastic Leukemia: Case Series and Review of the Literature.

PubMed

Demir, Sevliya Öcal; Çeliker, Hande; Karaaslan, Ayşe; Kadayifci, Eda Kepenekli; Akkoç, Gülşen; Atıcı, Serkan; Yakut, Nurhayat; Şenay, Emel; Kazokoğlu, Haluk; Koç, Ahmet; Bakır, Mustafa; Soysal, Ahmet

2016-11-22

Cytomegalovirus (CMV) retinitis is typically diagnosed in patient with AIDS and those who underwent allogeneic hematopoietic cell transplant. However, it may develop in patients with acute lymphoblastic leukemia (ALL) who have not undergone hematopoietic cell transplantation. To increase awareness of CMV retinitis in this group, we describe 3 patients ages 3, 9, and 12, with ALL who developed CMV retinitis. The diagnosis of CMV retinitis was made on the basis of ophthalmological findings suggesting typical retinal lesions. In 2 cases, CMV DNAemia was present, while in 1 patient CMV DNA was detected only in vitreous fluid using the PCR technique. All cases were treated with intravenous ganciclovir for 2 or 3 weeks as induction therapy, followed by oral valganciclovir prophylaxis. Initially, active retinitis lesions resolved in all cases; however, in 1 patient CMV retinitis relapsed 3 times during follow-up. In this case, by using foscarnet therapy, satisfactory responses were achieved and the progression of CMV retinitis lesions stopped and eventually regressed.

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

Eftekhari, F.; Yousefzadeh, D.K.

Two cases of primary infantile hyperparathyroidism (PIH) are reported. In both cases the diagnosis was initially suspected from chest radiographs which were obtained to assess the etiology of fever and respiratory distress in one case and heart murmur in another. The first case responded well to subtotal parathyroidectomy. The second case had many unique features. (1) She never became overtly symptomatic. (2) She displayed a constellation of findings that are not yet emphasized. (3) Her indisputable radiographic findings of hyperparathyroidism vanished spontaneously by two months of age, whereas her biochemical alterations have persisted up to now, 2 1/2 years aftermore » birth. (4) Three members of her family have subclinical hyperparathyroidism (elevated serum parathormone, hypercalcemia, and hypophosphatemia). Our review of 19 more cases showed that PIH has no specific clinical symptoms and/or signs. Of the laboratory findings, hypercalcemia was most consistantly encountered. The radiographic findings, although not identical to those described in hyperparathyroid adults, had the greatest diagnostic specificity. The disorder carried a grave prognosis if not diagnosed promptly and managed surgically.« less

Color vision abnormality as an initial presentation of the complete type of congenital stationary night blindness.

PubMed

Tan, Xue; Aoki, Aya; Yanagi, Yasuo

2013-01-01

Patients with the complete form of congenital stationary night blindness (CSNB) often have reduced visual acuity, myopia, impaired night vision, and sometimes nystagmus and strabismus, however, they seldom complain of color vision abnormality. A 17-year-old male who was at technical school showed abnormalities in the color perception test for employment, and was referred to our hospital for a detailed examination. He had no family history of color vision deficiency and no other symptoms. During the initial examination, his best-corrected visual acuity was 1.2 in both eyes. His fundus showed no abnormalities except for somewhat yellowish reflex in the fovea of both eyes. Electroretinogram (ERG) showed a good response in cone ERG and 30 Hz flicker ERG, however, the bright flash, mixed rod and cone ERG showed a negative type with a reduced b-wave (positive deflection). There was no response in the rod ERG, either. From the findings of the typical ERG, the patient was diagnosed with complete congenital stationary night blindness. This case underscores the importance of ERG in order to diagnose the cause of a color vision anomaly.

Mixed pineal mature teratoma and germinoma in two brothers of the fraternal triplets.

PubMed

Grahovac, Gordan; Alden, Tord; Nitin, Wadhwani

2017-05-01

Intracranial teratomas are rare germ cell neoplasms that contain tissues derived from all three germ cell layers and most commonly occurring during childhood. This is the first report of pineal region mixed mature teratoma and germinoma in two fraternal brothers of fraternal triplets. We report the case of a mixed mature teratoma and germinoma of the pineal region in two brothers of fraternal triplets. Older brother was initially diagnosed at the age of 11 years with the pure teratoma of the pineal region but the review of the pathology 3 years after initial surgery revealed the mixed mature teratoma with 5% germinomatous component. The younger brother was diagnosed at the age of 13 years with the mixed mature teratoma with 10% germinomatous component tumor of the pineal region. Younger brother has been treated with adjuvant chemo-radiotherapy and older brother was treated without adjuvant therapy. Both brothers had no recurrence. Pineal mature teratomas have a good prognosis, in contrast to their immature or mixed counterparts. A rigorous histological examination of the tumor samples is mandatory, in order to not omit a mixed contingent within the tumor.

The value of routine polymerase chain reaction analysis of intraocular fluid specimens in the diagnosis of infectious posterior uveitis.

PubMed

Scheepers, Marius A; Lecuona, Karin A; Rogers, Graeme; Bunce, Catey; Corcoran, Craig; Michaelides, Michel

2013-01-01

To assess the value of routine polymerase chain reaction (PCR) analysis on intraocular fluid from patients presenting with a first episode of suspected active infectious posterior uveitis in a population with a high prevalence of human immunodeficiency virus infection. Retrospective, interventional case series. Participants. 159 consecutive patients presenting at a tertiary care hospital over a five-year period. PCR analysis was performed for cytomegalovirus, varicella zoster virus, herpes simplex virus types 1 and 2, Toxoplasma gondii, and Mycobacterium tuberculosis. PCR analysis confirmed the initial clinical diagnosis in 55 patients (35%) and altered the initial clinical diagnosis in 36 patients (23%). The clinical diagnosis prior to PCR testing was nonspecific (uncertain) in 51 patients (32%), with PCR providing a definitive final diagnosis in 20 of these patients (39%); necrotizing herpetic retinopathy and ocular toxoplasmosis were particularly difficult to diagnose correctly without the use of PCR analysis. The clinical phenotype alone was unreliable in diagnosing the underlying infectious cause in a quarter of patients in this study. Since the outcome of incorrectly treated infective uveitis can be blinding, PCR analysis of ocular fluids is recommended early in the disease even in resource poor settings.

[Allergic colitis in exclusively breast-fed infants].

PubMed

Sierra Salinas, C; Blasco Alonso, J; Olivares Sánchez, L; Barco Gálvez, A; del Río Mapelli, L

2006-02-01

Eosinophilic colitis is induced by antigens present in cow's milk proteins in formula or human milk. In the last few years, an increasing number of cases have been diagnosed in exclusively breast-fed infants. We performed a retrospective study of 13 infants diagnosed with allergic colitis in our unit between January 1997 and January 2004. All the infants had been exclusively breast-fed. In all patients, initial symptoms were digestive (12 with mucus and bloody stools). Onset of symptoms occurred at 0-3 months in 77 %. Laboratory data of the allergic compound were negative. The main locations were the descending and sigmoid colon (75 %). Biopsy demonstrated acute inflammation, with neutrophil infiltration and an increase in eosinophils. In all patients, initial treatment consisted of exclusion of cow's milk proteins from the mother's diet. Ten of the 13 patients showed no improvement, requiring exclusive administration of protein-free hydrolyzate. In 3 infants, breastfeeding was maintained (breastfeeding without cow's milk proteins plus hydrolyzate). Diagnosis of eosinophilic colitis is based on exclusion of other causes of specific colitis and typical endoscopic and ultrastructural findings. Moreover, a satisfactory response to dietary treatment must be demonstrated. This diagnosis should be considered in breast-fed infants with rectal bleeding without involvement of general health status.

[A case of hereditary sensory and autonomic neuropathy type 1E with frontal lobe dysfunction as an initial symptom].

PubMed

Watanabe, Masashi; Matsumoto, Yushi; Okamoto, Kensho; Okuda, Bungo; Mizuta, Ikuko; Mizuno, Toshiki

2017-12-27

A 49-year-old man had developed gradually personality change, gait disturbance, and hearing loss for five years. On admission, he presented with frontal release signs, stuttering, vertical gaze palsy, sensorineural deafness, muscle rigidity, ataxia, and sensory disturbance with areflexia in the lower extremities. Brain MRI demonstrated atrophy in the cerebellum and midbrain tegmentum as well as cerebral atrophy, predominantly in the frontal lobe. He was tentatively diagnosed as progressive supranuclear palsy on the basis of clinical features and imagings. On nerve conduction study, no sensory nerve action potentials were elicited in the upper and lower extremities. Details of family history revealed a hereditary sensory neuropathy with autosomal dominant inheritance in his relatives. Because genetic analysis showed a rare missense mutation (c.1483T>C, p.Y495H) in DNA methyltransferase 1 gene, we diagnosed him as having hereditary sensory and autonomic neuropathy type 1E (HSAN1E). In addition, p.M232R mutation in prion protein gene was detected. It should be kept in mind that there are some patients with HSAN1E presenting with frontal lobe dysfunction as an initial symptom and with clinical features mimicking progressive supranuclear palsy.

Under-reporting of sputum smear-positive tuberculosis cases in Kenya.

PubMed

Tollefson, D; Ngari, F; Mwakala, M; Gethi, D; Kipruto, H; Cain, K; Bloss, E

2016-10-01

Although an estimated three million tuberculosis (TB) cases worldwide are missed by national TB programs annually, the level of under-reporting of diagnosed cases in high TB burden settings is largely unknown. To quantify and describe under-reporting of sputum smear-positive TB cases in Kenya. A national-level retrospective TB inventory study was conducted. All sputum smear-positive TB cases diagnosed by public or private laboratories during 1 April-30 June 2013 were extracted from laboratory registers in 73 randomly sampled subcounties and matched to TB cases in the national TB surveillance system (TIBU). Bivariate and multivariate analyses were conducted. In the subcounties sampled, 715 of 3409 smear-positive TB cases in laboratory registers were not found in TIBU. The estimated level of under-reporting of smear-positive TB cases in Kenya was 20.7% (95%CI 18.4-23.0). Under-reporting was greatest in subcounties with a high TB burden. Unreported cases were more likely to be patients aged ⩾55 years, have scanty smear results, and be diagnosed at large facilities, private facilities, and facilities in high TB burden regions. In Kenya, one fifth of smear-positive TB cases diagnosed during the study period went unreported, suggesting that the true TB burden is higher than reported. TB surveillance in Kenya should be strengthened to ensure all diagnosed TB cases are reported.

Incidence of end-stage renal disease attributed to diabetes among persons with diagnosed diabetes --- United States and Puerto Rico, 1996-2007.

PubMed

2010-10-29

During 2007, approximately 110,000 persons in the United States and Puerto Rico began treatment for end-stage renal disease (ESRD) (i.e., kidney failure requiring dialysis or transplantation). Diabetes is the leading cause of ESRD in the United States, accounting for 44% of new cases in 2007. Although the number of persons initiating treatment for kidney failure each year who have diabetes listed as a primary cause (ESRD-D) has increased since 1996, ESRD-D incidence among persons with diagnosed diabetes has declined since 1996. To determine whether this decline occurred in every U.S. region and in every state, CDC analyzed 1996-2007 data from the U.S. Renal Data System (USRDS) and the Behavioral Risk Factor Surveillance System (BRFSS). During the period, the age-adjusted rate of ESRD-D among persons with diagnosed diabetes declined 35% overall, from 304.5 to 199.1 per 100,000 persons with diagnosed diabetes, and declined in all U.S. regions and in most states. No state showed a significant increase in the age-adjusted ESRD-D rate. Continued awareness of risk factors for kidney failure and interventions to improve diabetes care are needed to sustain and improve these trends.

Rehabilitation for a child with recalcitrant anti-N-methyl-d-aspartate receptor encephalitis: case report and literature review

PubMed Central

Guo, Yao-Hong; Kuan, Ta-Shen; Hsieh, Pei-Chun; Lien, Wei-Chih; Chang, Chun-Kai; Lin, Yu-Ching

2014-01-01

Anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis is a newly recognized, potentially fatal, but treatable autoimmune disease. Good outcome predictors include milder severity of symptoms, no need for intensive care unit admission, early aggressive immunotherapy, and prompt tumor removal. We report a case of a young girl aged 3 years 2 months and diagnosed as recalcitrant anti-NMDA receptor encephalitis without any underlying neoplasm. The patient had initial symptoms of behavioral changes that progressed to generalized choreoathetosis and orofacial dyskinesia, which resulted in 6 months of hospitalization in the pediatric intensive care unit. One year after initial onset of the disease, she had only achieved the developmental age of an infant aged 6–8 months in terms of gross and fine motor skills, but she resumed total independence in activities of daily living after receiving extensive immunotherapy and 28 months of rehabilitation. Our brief review will help clinical practitioners become more familiar with this disease and the unique rehabilitation programs. PMID:25473290

Cardiac presentation of ALK positive anaplastic large cell lymphoma.

PubMed

Lim, Z Y; Grace, R; Salisbury, J R; Creamer, D; Jayaprakasam, A; Ho, A Y L; Devereux, S; Mufti, G J; Pagliuca, A

2005-12-01

Cardiac involvement as an initial presentation of malignant lymphoma is a rare occurrence. We report the case of an immunocompetent 29-year-old male who presented with syncope and arrythmias secondary to a ventricular cardiac mass. Transcutaneous cardiac biopsy was non-diagnostic, therefore an open cardiac biopsy was performed from which a provisional diagnosis of a cardiac inflammatory pseudotumour was made. Six months after presentation, he developed several subcutaneous lesions with systemic symptoms. Histological and immunophenotypic review of the initial cardiac biopsy revealed features consistent with a diagnosis of CD30, ALK1 positive anaplastic large cell lymphoma (ALCL). Despite intensive treatment with combination chemotherapy, there was significant progression of disease, and he died 11 months after diagnosis. The overall prognosis of cardiac lymphoma remains poor, which may be due to the often late presentation of the tumour. To our knowledge, this is the first reported case of a cardiac ALK positive ALCL. Although rare, cardiac presentation of ALCL should be added to the list of differential diagnoses of cardiac lymphomas.

Serum matrix metalloproteinase 3 in detecting remitting seronegative symmetrical synovitis with pitting edema syndrome: A case report.

PubMed

Kenzaka, Tsuneaki; Goda, Ken

2018-05-16

We report a case of remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome in a 71-year-old woman. She referred to our hospital with finger stiffness, edema of both hands and feet, pain of bilateral shoulder, wrist, metacarpophalangeal, proximal interphalangeal, and ankle joints. Rheumatoid factor was negative, human leukocyte antigen -B7 antigen was positive. Moreover, matrix metalloproteinase 3 (MMP-3) was high. She was diagnosed with RS3PE syndrome, and treatment with prednisolone (15 mg/d) was started. One week after prednisolone treatment initiation, CRP decreased to negative, and joint pain was almost completely resolved. However, hand stiffness persisted, and MMP-3 level was still high. Thus, prednisolone dose was increased to 20 mg/d, and the stiffness resolved. Twenty days after treatment initiation, MMP-3 was normalized. MMP-3 was more indicative of RS3PE syndrome symptoms than CRP. Thus, MMP-3 seems to be more sensitive to RS3PE syndrome symptoms.

Serum matrix metalloproteinase 3 in detecting remitting seronegative symmetrical synovitis with pitting edema syndrome: A case report

PubMed Central

Kenzaka, Tsuneaki; Goda, Ken

2018-01-01

We report a case of remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome in a 71-year-old woman. She referred to our hospital with finger stiffness, edema of both hands and feet, pain of bilateral shoulder, wrist, metacarpophalangeal, proximal interphalangeal, and ankle joints. Rheumatoid factor was negative, human leukocyte antigen -B7 antigen was positive. Moreover, matrix metalloproteinase 3 (MMP-3) was high. She was diagnosed with RS3PE syndrome, and treatment with prednisolone (15 mg/d) was started. One week after prednisolone treatment initiation, CRP decreased to negative, and joint pain was almost completely resolved. However, hand stiffness persisted, and MMP-3 level was still high. Thus, prednisolone dose was increased to 20 mg/d, and the stiffness resolved. Twenty days after treatment initiation, MMP-3 was normalized. MMP-3 was more indicative of RS3PE syndrome symptoms than CRP. Thus, MMP-3 seems to be more sensitive to RS3PE syndrome symptoms. PMID:29774220

[Takayasu arteritis and cerebral venous thrombosis: report of a case].

PubMed

Rodríguez de Mingo, E; Riofrío Cabeza, S; Villa Albuger, T; Velasco Blanco, M J

2014-01-01

Palpitations, paresthesias and anxiety are very common reasons of consultation in primary care. We report the case of a 40 year-old Caucasian woman who came to the clinic due to these symptoms, and was finally diagnosed with Takayasu arteritis. Later, she had an episode of headache, as the initial manifestation of cerebral venous thrombosis. Takayasu arteritis is a systemic vasculitis affecting medium and large arteries, mainly leacausing stenosis of the aorta and its branches. It most frequently affects Asian women, being much rarer in Europe. The primary care doctor plays a key role in the initial diagnosis and monitoring of patients with rare diseases, such as Takayasu arteritis, and must be a basic support for the patient and family, providing information and advice, and contributing with his work to reduce the vulnerability of this group. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

Lymphocutaneous sporotrichosis in an adolescent girl presenting as mycetoma.

PubMed

Tilak, Ragini; Kumari, Varsha; Bansal, Manish; Sharma, Taniya; Pandey, Shyam Sunder

2012-09-01

A 13-year-old girl presented with multiple painless purulent ulcers with raised borders on the medial aspect of the sole of her right foot associated with inguinal lymphadenopathy for the past 4 years. There was history of local trauma at the site prior to the formation of ulcers. There were no other significant associated signs or symptoms. The patient was initially treated with multiple antibiotics with minimal improvement. Fungal cultures of biopsy specimens demonstrated the presence of colonies of Sporothrix schenckii thus confirming the diagnosis of sporotrichosis. Oral itraconazole at the dose of 100 mg twice daily was initiated with marked response at 4 weeks. This case demonstrated a rare morphological presentation of the lymphocutaneous sporotrichosis as mycetoma. The possible diagnosis of sporotrichosis should be kept in mind in such a clinical presentation not responding to antibiotics. Cutaneous sporotrichosis should be diagnosed and treated as early as possible because untreated cases may disseminate to cause visceral involvement with fatal outcome in immunocompromised patients.