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Sample records for clinical presentation diagnosis

  1. Clinical presentations and diagnosis of brucellosis.

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    Ulu-Kilic, Aysegul; Metan, Gökhan; Alp, Emine

    2013-04-01

    Brucellosis is a worldwide zoonosis caused by Brucella species. The disease remains a significant economic and public health problem particularly in the Mediterranean countries. Clinical manifestations of brucellosis are variable and often nonspecific, simulating infectious and noninfectious diseases. Osteoarticular involvement is the most common focal complication of brucellosis and morbidity. Mortality rate due to brucellosis is low, mostly secondary to endocarditis and central nerve involvement of disease. The diagnosis of brucellosis depends on the clinical presentations and laboratory tests. Detection of Brucella species by culture method is sometimes unsuccessful; therefore, serological tests are preferred. These tests are easy to perform, and results can be obtained within a short span of time. Several serologic tests have been developed for the diagnosis of human brucellosis, including the standard agglutination tube (SAT) test, anti-human globulin (Coombs) test, indirect fluorescence antibody (IFA) test, and enzyme-linked immunosorbent assay (ELISA). SAT is the primary test used in many clinical laboratories. IFA and ELISA are simple and reliable for the detection of immunoglobulin classes especially in complicated cases. Polymerase chain reaction (PCR) technique is highly sensitive and specific for the determination of Brucella spp. from peripheral blood and other tissues. Recent patents are especially based on molecular assays in the diagnosis of brucellosis. However, PCR is still expensive and may not be appropriate for daily practice.

  2. PSORIATIC ARTHRITIS: CLASSIFICATION, CLINICAL PRESENTATION, DIAGNOSIS, TREATMENT

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    T. V. Korotaeva

    2014-01-01

    Full Text Available The lecture gives basic information about psoriatic arthritis (PsA, a chronic inflammatory disease of the joints, spine, and enthesises from a group of spondyloarthritis. It describes the epidemiology of the disease and considers current ideas on its pathogenesis and factors influencing the development of PsA in psoriatic patients. The classification and clinical forms of PsA are presented. The major clinical manifestations of the disease are indicated to include peripheral arthritis, enthesitis, dactylitis, and spondylitis. The diagnosis of the disease is noted to be established on the basis of its detected typical clinical and radiological signs, by applying the CASPAR criteria. A dermatologist, rheumatologist, and general practitioner screen PsA, by actively detecting complaints, characteristic clinical and radiological signs of damage to the joints, and/or spine, and/or enthesises and by using screening questionnaires. There are data that patients with PsA are observed to be at higher risk for a number of diseases type 2 diabetes mellitus hypertension, coronary heart disease, obesity, metabolic syndrome, inflammatory bowel diseases, etc. The aim of current pharmacotherapy for PsA is to achieve remission or minimal activity of clinical manifestations of the disease, to delay or prevent its X-ray progression, to increase survival, to improve quality of life in patients, and to reduce the risk of comorbidities. The paper considers groups of medicines used to treat the disease, among other issues, information about biological agents (BA registered in the Russian Federation for the treatment of PsA. Most patients are mentioned to show a good response to this therapy option just 3–6 months after treatment initiation; however, some of them develop primary inefficiency. In this case, switching one BA to another is recommended. Some patients using a BA develop secondary treatment inefficiency, which is firstly due to the appearance of

  3. Oral candidiasis: pathogenesis, clinical presentation, diagnosis and treatment strategies.

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    Lalla, Rajesh V; Patton, Lauren L; Dongari-Bagtzoglou, Anna

    2013-04-01

    Oral candidiasis is a clinical fungal infection that is the most common opportunistic infection affecting the human oral cavity. This article reviews the pathogenesis, clinical presentations, diagnosis and treatmentstrategies for oral candidiasis.

  4. Hip osteoarthrosis: clinical presentation, diagnosis, approaches to treatment

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    Marina Stanislavovna Svetlova

    2013-01-01

    Full Text Available The paper characterizes the specific features of the anatomy and physiology of the hip joint, the clinical presentation of coxarthrosis and presents current methods for the diagnosis and treatment of the disease. It gives the results of a trial evaluating the impact of long-term (one-year theraflex therapy on the symptoms of hip osteoarthrosis.

  5. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.

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    Hendriksz, C J; Harmatz, P; Beck, M; Jones, S; Wood, T; Lachman, R; Gravance, C G; Orii, T; Tomatsu, S

    2013-01-01

    Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease. MPS IVA is caused by mutations in the gene encoding the enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Reduced GALNS activity results in impaired catabolism of two glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS). Clinical presentations of MPS IVA reflect a spectrum of progression from a severe "classical" phenotype to a mild "attenuated" phenotype. More than 180 different mutations have been identified in the GALNS gene, which likely explains the phenotypic heterogeneity of the disorder. Accumulation of C6S and KS manifests predominantly as short stature and skeletal dysplasia (dysostosis multiplex), including atlantoaxial instability and cervical cord compression. However, abnormalities in the visual, auditory, cardiovascular, and respiratory systems can also affect individuals with MPS IVA. Diagnosis is typically based on clinical examination, skeletal radiographs, urinary GAG, and enzymatic activity of GALNS in blood cells or fibroblasts. Deficiency of GALNS activity is a common assessment for the laboratory diagnosis of MPS IVA; however, with recently increased availability, gene sequencing for MPS IVA is often used to confirm enzyme results. As multiple clinical presentations are observed, diagnosis of MPS IVA may require multi-system considerations. This review provides a history of defining MPS IVA and how the understanding of the disease manifestations has changed over time. A summary of the accumulated knowledge is presented, including information from the International Morquio Registry. The classical phenotype is contrasted with attenuated cases, which are now being recognized and diagnosed more frequently. Laboratory based diagnoses of MPS IVA are also discussed.

  6. SLAP lesions: Anatomy, clinical presentation, MR imaging diagnosis and characterization

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    Chang, Debra [University of California San Diego, Department of Radiology, 200 W. Arbor Drive, San Diego, CA 92103 (United States); VA Healthcare System San Diego, Department of Radiology, 3350 La Jolla Village Drive, La Jolla, CA 92161 (United States); MedRay Imaging and Fraser Health Authority, Vancouver, BC (Canada)], E-mail: cbchung@ucsd.edu; Mohana-Borges, Aurea; Borso, Maya; Chung, Christine B. [University of California San Diego, Department of Radiology, 200 W. Arbor Drive, San Diego, CA 92103 (United States); VA Healthcare System San Diego, Department of Radiology, 3350 La Jolla Village Drive, La Jolla, CA 92161 (United States)

    2008-10-15

    ABSTRACT: Superior labral anterior posterior (SLAP) tears are an abnormality of the superior labrum usually centered on the attachment of the long head of the biceps tendon. Tears are commonly caused by repetitive overhead motion or fall on an outstretched arm. SLAP lesions can lead to shoulder pain and instability. Clinical diagnosis is difficult thus imaging plays a key diagnostic role. The normal anatomic variability of the capsulolabral complex can make SLAP lesions a diagnostic challenge. Concurrent shoulder injuries are often present including rotator cuff tears, cystic changes or marrow edema in the humeral head, capsular laxity, Hill-Sachs or Bankart lesion. The relevant anatomy, capsulolabral anatomic variants, primary and secondary findings of SLAP tears including MR arthrography findings, types of SLAP lesions and a practical approach to labral lesions are reviewed.

  7. Alopecia areata: Clinical presentation, diagnosis, and unusual cases.

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    Finner, Andreas M

    2011-01-01

    Alopecia areata (AA) is a nonscarring hair loss disorder with a 2% lifetime risk. Most patients are below 30 years old. Clinical types include patchy AA, AA reticularis, diffuse AA, AA ophiasis, AA sisiapho, and perinevoid AA. Besides scalp and body hair, the eyebrows, eyelashes, and nails can be affected. The disorder may be circumscribed, total (scalp hair loss), and universal (loss of all hairs). Atopy, autoimmune thyroid disease, and vitiligo are more commonly associated. The course of the disease is unpredictable. However, early, long-lasting, and severe cases have a less favorable prognosis. The clinical diagnosis is made by the aspect of hairless patches with a normal skin and preserved follicular ostia. Exclamations mark hairs and a positive pull test signal activity. Dermoscopy may reveal yellow dots. White hairs may be spared; initial regrowth may also be nonpigmented. The differential diagnosis includes trichotillomania, scarring alopecia, and other nonscarring hair loss disorders such as tinea capitis and syphilis.

  8. [Confusing clinical presentations and differential diagnosis of bipolar disorder].

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    Gorwood, P

    2004-01-01

    An early recognition of bipolar disorders may have an important impact on the prognosis of this disorder according to different mechanisms. Bipolar disorder is nevertheless not easy to detect, the diagnosis being correctly proposed after, in average more than a couple of Years and three different doctors assessments. A short delay before introducing the relevant treatment should help avoiding inappropriate treatments (prescribing, for example, neuroleptics for long periods, antidepressive drugs each time depressive symptoms occurs, absence of treatment despite mood disorders), with their associated negative impact such as mood-switching, rapid cycling or presence of chronic side-effects stigmates. Furthermore, non-treated mood disorders in bipolar disorder are longer, more stigmatizing and may be associated with an increased risk of suicidal behaviour and mortality. Lastly, compliance, an important factor regarding the long term prognosis of bipolar disorder, should be improved when there is a short delay between correct diagnosis and treatment and onset of the disorder. We therefore propose to review the literature for the different pitfalls involved in the diagnosis of bipolar disorder. Non-bipolar mood-disorders are frequently quoted as one of the alternative diagnosis. Hyperthymic temperament, side-effects of prescribed treatments and organic comorbid disorders may be involved. Bipolar disorders have a sex-ratio closer to 1 (men are thus more frequently of the bipolar type in mood-disorders), with earlier age at onset, and more frequent family history of suicidal attempts and bipolar disorder. Schizo-affective disorders are also a major concern regarding the diagnosis of bipolar disorder. This is explained by flat affects sometimes close to anhedonia, presence of a schizoïd personality in bipolar disorder, persecutive hostility that can be considered to be related to irritability rather than a schizophrenic symptom. Rapid cycling, mixed episodes and short

  9. Acute pancreatitis: etiology, clinical presentation, diagnosis, and therapy.

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    Cappell, Mitchell S

    2008-07-01

    Acute pancreatitis is a relatively common disease that affects about 300,000 patients per annum in America with a mortality of about 7%. About 75% of pancreatitis is caused by gallstones or alcohol. Other important causes include hypertriglyceridemia, medication toxicity, trauma from endoscopic retrograde cholangiopancreatography, hypercalcemia, abdominal trauma, various infections, autoimmune, ischemia, and hereditary causes. In about 15% of cases the cause remains unknown after thorough investigation. This article discusses the causes, diagnosis, imaging findings, therapy, and complications of acute pancreatitis.

  10. POSTTRAUMATIC SHOULDER INSTABILITY IN CHILDREN: CLINICAL PRESENTATION, DIAGNOSIS AND TREATMENT

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    Ярослав Николаевич Прощенко

    2014-09-01

    Full Text Available The article presents an analysis of the treatment of 15 patients with posttraumatic shoulder instability aged 11-17 years, as a result of primary traumatic dislocation and chronic instability. We identified the following causes of chronic shoulder instability: Bankart injury, SLAP-injury; Hill-Sachs defect; fracture of the glenoid, type 3 humeral head-glenoid relation, and retroversion of the humeral head, as well as defects in the treatment of primary shoulder dislocation. Surgical treatment is performed in 7 patients with chronic instability (7 joints. Unsatisfactory result was detected in 1 patient (1 joints, which is caused by a type 3 humeral head-glenoid relation.

  11. Early Diagnosis of Autism Spectrum Disorder: Stability and Change in Clinical Diagnosis and Symptom Presentation

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    Guthrie, Whitney; Swineford, Lauren B.; Nottke, Charly; Wetherby, Amy M.

    2013-01-01

    Background: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most…

  12. The clinical presentation and diagnosis of ketamine-associated urinary tract dysfunction in Singapore.

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    Yek, Jacklyn; Sundaram, Palaniappan; Aydin, Hakan; Kuo, Tricia; Ng, Lay Guat

    2015-12-01

    Ketamine is a short-acting anaesthetic agent that has gained popularity as a 'club drug' due to its hallucinogenic effects. Substance abuse should be considered in young adult patients who present with severe debilitating symptoms such as lower urinary tract symptoms, even though the use of controlled substances is rare in Singapore. Although the natural history of disease varies from person to person, a relationship between symptom severity and frequency/dosage of abuse has been established. It is important to be aware of this condition and have a high degree of clinical suspicion to enable early diagnosis and immediate initiation of multidisciplinary and holistic treatment. A delayed diagnosis can lead to irreversible pathological changes and increased morbidity among ketamine abusers.

  13. Oral Lichen Planus: An Update on Etiology, Pathogenesis, Clinical Presentation, Diagnosis and Management.

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    Gupta, Sonia; Jawanda, Manveen Kaur

    2015-01-01

    The mouth is a mirror of health or disease, a sentinel or early warning system. The oral cavity might well be thought as a window to the body because oral manifestations accompany many systemic diseases. In many instances, oral involvement precedes the appearance of other symptoms or lesions at other locations. Oral lichen planus (OLP) is a chronic mucocutaneous disorder of stratified squamous epithelium of uncertain etiology that affects oral and genital mucous membranes, skin, nails, and scalp. LP is estimated to affect 0.5% to 2.0% of the general population. This disease has most often been reported in middle-aged patients with 30-60 years of age and is more common in females than in males. The disease seems to be mediated by an antigen-specific mechanism, activating cytotoxic T cells, and non-specific mechanisms like mast cell degranulation and matrix metalloproteinase activation. A proper understanding of the pathogenesis, clinical presentation, diagnosis of the disease becomes important for providing the right treatment. This article discusses the prevalence, etiology, clinical features, oral manifestations, diagnosis, complications and treatment of oral LP.

  14. Diagnosis of coronary vasospasm in patients with clinical presentation of unstable angina pectoris using ergonovine echocardiography.

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    Song, J K; Park, S W; Kang, D H; Lee, C W; Choi, K J; Hong, M K; Kim, J J; Kim, Y H; Park, S J

    1998-12-15

    Although coronary vasospasm can contribute to the development of unstable angina, the definite diagnostic method has not been established. The purpose of this study was to determine if ergonovine echocardiography (detection of regional wall motion abnormality during bedside ergonovine challenge) after angiographic confirmation of insignificant fixed disease would be useful and safe in detecting coronary vasospasm in patients with unstable angina. After control of chest pain with medications in patients admitted to the coronary care unit under the tentative diagnosis of unstable angina, diagnostic coronary angiography was performed. All patients with normal or insignificant fixed disease underwent ergonovine echocardiography after discontinuation of medications for 4+/-1 days. Among 208 consecutive patients enrolled for this study, 75% (156 of 208) showed significant fixed disease in the angiography. Ergonovine echocardiography was performed in 52 patients with insignificant disease, and coronary vasospasm was documented in 33 (63%, 33 of 52). No serious procedure-related arrhythmia or myocardial infarction occurred. Esophageal motility disorder and hypertrophic cardiomyopathy were diagnosed in 6 and 3 patients, respectively. Chest pain of undetermined etiology was the final diagnosis at discharge in 10 patients (5%, 10 of 208); among them chest pain redeveloped in 2 patients, and repeated ergonovine echocardiography revealed positive results. Our data suggest that among patients with the clinical presentation of unstable angina, coronary vasospasm is the main cause of myocardial ischemia in a considerable number of patients with a normal or near-normal angiogram, and ergonovine echocardiography after confirmation of absence of significant fixed disease is useful and safe for noninvasive diagnosis of coronary vasospasm in this setting.

  15. Traumatic diaphragmatic ruptures: clinical presentation, diagnosis and surgical approach in adults

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    Hofmann, Sabine

    2012-01-01

    Full Text Available Objective: Traumatic diaphragmatic injuries are rare, but potentially life-threatening due to herniation of abdominal organs into the pleural cavities. They can be easily overlooked on initial diagnostics and a high index of suspicion is required. The aim of this retrospective study was to analyze the clinical presentation, diagnostic methods and surgical management of patients with diaphragmatic rupture at our institution. Methods: A retrospective study was performed to analyze our experience with patients suffering from traumatic diaphragmatic rupture. Charts were reviewed for sex, age, side-location, concomitant injuries, time-to-diagnosis, diagnostic methods, surgical approach and outcome. Results: Fourteen patients (median age: 46 yrs, range 18–71, 9 male, 5 female with diaphragmatic injuries (left side: 10, right side: 4 were treated between July 2003 and September 2011. Mechanism of injury was a penetrating trauma (14%, blunt trauma (50% and others (36%. Associated abdominal injuries included spleen rupture (n=3, liver laceration (n=2, abdominal wall laceration (n=2 and gastric perforation (n=1. Computed tomography was the most sensitive diagnostic method. All patients underwent trans-abdominal repair of the diaphragmatic defect (direct suture: 10, prosthetic mesh insertion: 4. Associated abdominal procedures included splenectomy (n=3, liver packing (n=2, abdominal wall reconstruction (n=2 and partial gastric resection (n=1. Morbidity and hospital mortality rate were 36% and 0%, respectively. Median postoperative hospital stay was 17 days (range: 7–40 days. Conclusion: Morbidity and mortality of diaphragmatic ruptures are mainly determined by associated injuries or complications of diaphragmatic herniation like incarceration of viscera or lung failure. Early diagnosis helps to prevent severe complications. Spiral CT-scan is the most reliable tool for acute diagnosis of diaphragmatic rupture and associated visceral lacerations

  16. Essentiality of early diagnosis of molar incisor hypomineralization in children and review of its clinical presentation, etiology and management.

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    Garg, Nishita; Jain, Abhay Kumar; Saha, Sonali; Singh, Jaspal

    2012-09-01

    Molar incisor hypomineralization (MIH) is a common developmental condition resulting in enamel defects in first permanent molars and permanent incisors. It presents at eruption of these teeth. One to four molars, and often also the incisors, could be affected. Since first recognized, the condition has been puzzling and interpreted as a distinct phenomenon unlike other enamel disturbances. Early diagnosis is essential since, rapid breakdown of tooth structure may occur, giving rise to acute symptoms and complicated treatment. The purpose of this article is to review MIH and illustrate its diagnosis and clinical management in young children. How to cite this article: Garg N, Jain AK, Saha S, Singh J. Essentiality of Early Diagnosis of Molar Incisor Hypomineralization in Children and Review of its Clinical Presentation, Etiology and Management. Int J Clin Pediatr Dent 2012;5(3):190-196.

  17. The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.

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    Karaa, Amel; Goldstein, Amy

    2015-02-01

    Primary mitochondrial diseases refer to a group of heterogeneous and complex genetic disorders affecting 1:5000 people. The true prevalence is anticipated to be even higher because of the complexity of achieving a diagnosis in many patients who present with multisystemic complaints ranging from infancy to adulthood. Diabetes is a prominent feature of several of these disorders which might be overlooked by the endocrinologist. We here review mitochondrial disorders and describe the phenotypic and pathogenetic differences between mitochondrial diabetes mellitus (mDM) and other more common forms of diabetes mellitus.

  18. Clinical presentation, pathophysiology, diagnosis, and treatment of acquired and hereditary angioedema: Exploring state-of-the-art therapies in RI.

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    Guo, Canting; Settipane, Russell A

    2016-06-01

    Hereditary and acquired angioedema are potentially life-threatening diseases characterized by spontaneous episodes of subcutaneous and submucosal swelling of face, lips, oral cavity, larynx, and GI tract. Hereditary angioedema (HAE) usually presents within the first and second decades of life, whereas acquired angioedema presents in adults after 40 years of age. These clinical symptoms together with reduced C1 inhibitor levels and/or activity can usually confirm the diagnosis. In recent years, multiple novel therapies for treating hereditary angioedema have emerged including C1 inhibitor concentrates, ecallantide/kallikrein inhibitor, and icatibant/bradykinin receptor antagonist. This article reviews the clinical presentation, diagnosis, treatment, and prophylaxis of HAE. Lastly, this article takes into consideration that, in reality, acute care treatment can often be limited by each hospital's formulary, included is a review of HAE treatments available at the nine major hospitals in Rhode Island. [Full article available at http://rimed.org/rimedicaljournal-2016-06.asp, free with no login].

  19. Gelastic seizures associated with hypothalamic hamartomas. An update in the clinical presentation, diagnosis and treatment

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    José F. Tellez-Zenteno

    2008-10-01

    Full Text Available José F. Tellez-Zenteno1, Cesar Serrano-Almeida2, Farzad Moien-Afshari11Division of Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada; 2Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, CanadaAbstract: Gelastic seizures are epileptic events characterized by bouts of laughter. Laughter-like vocalization is usually combined with facial contraction in the form of a smile. Autonomic features such as flushing, tachycardia, and altered respiration are widely recognized. Conscious state may not be impaired, although this is often difficult to asses particularly in young children. Gelastic seizures have been associated classically to hypothalamic hamartomas, although different extrahypothalamic localizations have been described. Hypothalamic hamartomas are rare congenital lesions presenting with the classic triad of gelastic epilepsy, precocious puberty and developmental delay. The clinical course of patients with gelastic seizures associated with hypothalamic hamartomas is progressive, commencing with gelastic seizures in infancy, deteriorating into more complex seizure disorder resulting in intractable epilepsy. Electrophysiological, radiological, and pathophysiological studies have confirmed the intrinsic epileptogenicity of the hypothalamic hamartoma. Currently the most effective surgical approach is the trancallosal anterior interforniceal approach, however newer approaches including the endoscopic and other treatment such as radiosurgery and gamma knife have been used with success. This review focuses on the syndrome of gelastic seizures associated with hypothalamic hamartomas, but it also reviews other concepts such as status gelasticus and some aspects of gelastic seizures in other locations.Keywords: epilepsy, gelastic seizures, epilepsy surgery, hypothalamic hamartoma, intractable epilepsy

  20. AN ANALYSIS OF THE CLINICAL PRESENTATION , DIAGNOSIS , MANAGEMENT OPTIONS AND OUTCOME OF THE PATIENTS WITH GENITO - URINARY TUBERCULOSIS

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    Bhagavan

    2015-06-01

    Full Text Available AIMS AND OBJECTIVES: To analyze various clinical presentations and the treatment options in the management of the patients with genitourinary tuberculosis and to evaluate the role of urinary PCR in the detection of mycobacterium tuberculosis in patients with a clinical suspici on of genito urinary tuberculosis and to compare its sensitivity with urine for AFB smear, urine for myc. tuberculosis culture and bladder biopsy. MATERIALS AND METHODS: This is a retrospective and prospective study of patients with a diagnosis of genitour inary tuberculosis who underwent treatment in Gandhi General Hospital between January 2009 to December 2014. 62 patients with a diagnosis of genitourinary tuberculosis who underwent treatment were taken initially into the study. Five patients lost follow u p after initial visits. These patients were excluded from the study. The remaining 57 patients were managed. RESULTS: Irritative voiding symptoms (Frequency / Urgency / Dysuria were the most common symptoms. Gross hematuria seen in 22(38.5% patients and microscopic hematuria seen in 53% of patients. Urine for AFB attaining was positive in 16(31.3% patients, urine for MTb culture was positive in 21(41.1% patients and pus for MTb culture was positive in 4 of 7 cases. Urinary PCR to identify the mycobacter ial DNA was performed in 37 patients and was positive in 25(67.5% of 37 clinically suspected cases. The urinary PCR was falsely positive in 1(2.7% and falsely negative in 12(32.5% patients. Kidney was involved in 26(45.6% cases and ureter in 24(42.1%, and bladder in 28(49.1% cases. Overall surgical intervention was done in 36 patients. All patients received 4 to 8 weeks ATT before they were taken up for surgical intervention. In 24 patients who presented with ureteric strictures, 7 patients had nonfun ctioning kidneys and subsequently underwent nephroureterectomy, 8 patients had subnormal renal function in whom DJ stenting was done in 6 patients and PCN was done in 2

  1. Diabetes insipidus as the first symptom caused by lung cancer metastasis to the pituitary glands: Clinical presentations, diagnosis, and management

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    J F Mao

    2011-01-01

    Full Text Available Background : Central diabetes insipidus (CDI, secondary to pituitary metastatic lesions, is uncommon; however, lung and breast cancer are the commonest malignancies to have metastases to the pituitary. Early management of systemic chemotherapy and pituitary irradiation might improve the prognosis of patients. Aims : To investigate the clinical features, diagnosis, and management of CDI caused by lung cancer metastasis to the pituitary glands. Materials and Methods : We retrospectively reviewed 10 patients who had CDI as their first symptom before their lung cancers were diagnosed. Their clinical presentations, anterior pituitary gland function, sellar magnetic resonance imaging (MRI, management, and prognosis were described. Settings and Design : This retrospective cross-sectional clinical study was conducted in a medical college hospital. Results : The patient′s mean age was 58.6±7.8 years. Diabetes insipidus was the main complaint when they were referred to our hospital. MRI revealed specific dumbbell-shaped masses in the sella turcica in five patients. In seven patients whose hormones were measured, the levels of hormones from adenohypophysis were abnormally low in six patients. The main treatments included surgery, systemic chemotherapy, and sellar irradiation. Although nine patients had poor prognoses, one patient has survived for more than 3 years, suggesting benefit from early diagnosis and treatment. Conclusions : New-onset CDI might be the only symptom presented by the patients with pituitary metastasis (PM from lung cancer. Dumbbell-shaped sellar masses in MRI are prone to the diagnosis of PM. A thorough examination for primary cancer should be carried out in these aged and elderly patients.

  2. Glanders in animals: a review on epidemiology, clinical presentation, diagnosis and countermeasures.

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    Khan, I; Wieler, L H; Melzer, F; Elschner, M C; Muhammad, G; Ali, S; Sprague, L D; Neubauer, H; Saqib, M

    2013-06-01

    Glanders or farcy, caused by Burkholderia mallei, is an infectious and zoonotic disease of solipeds. Horses, donkeys and mules are the only known natural reservoir of B. mallei. Although glanders has been eradicated from most countries, it has regained the status of a re-emerging disease because of the numerous recent outbreaks. Pre-symptomatic or carrier animals are the potential source of infection for the healthy equine population and play a crucial role in the spreading of the infectious agent. Glanders is characterized by ulcerating nodular lesions of the skin and mucous membrane. Generalized symptoms include fever, malaise, depression, cough, anorexia and weight loss. Burkholderia mallei can invade its host through mucous membranes, gastrointestinal tract and the integument. Its virulence mechanisms and pathogenesis are not yet completely understood. A major problem when using serological tests for diagnosing glanders is the occurrence of false-positive and false-negative results leading to difficulties in international trade with equids and to the spread of glanders to disease-free regions. Moreover, poor tests critically result in poor control of disease. These tests are not only incapable of discriminating between B. mallei and B. pseudomallei antibodies, they are also unable to differentiate between malleinized and naturally infected animals. Combined use of both serological and molecular detection methods increases the detection rate of glanders. Countermeasures against glanders include early detection of disease in susceptible animals, stringent quarantine measures, testing and safe destruction of infected carcasses, adequate compensation to the animal owners, disinfection of infected premises and awareness about glanders and the zoonotic implications through veterinary extension services. An account of the clinical picture and successful experimental therapy of spontaneous equine glanders is also given.

  3. Clinical presentation, diagnosis and management of acute mitral regurgitation following acute myocardial infarction

    Institute of Scientific and Technical Information of China (English)

    Rengin etin Guven; Tolga Sinan G uven

    2016-01-01

    Acute mitral regurgitation (MR) is a frequent complication of acute myocardial infarction, with a variable presentation depending on the severity of MR and the integrity of the subvalvular apparatus. While most cases are asymptomatic or have mild dyspnea, rupture of chordae tendinea or papillary muscles are catastrophic complications that may rapidly lead to cardiogenic shock and death. Despite the presence of pulmonary edema and/or cardiogrenic shock, the murmur of acute MR is usually subtle due to rapid equalization of left atrial and left ventricular pressure gradient, and therefore misleading. Echocardiog-raphy is the definite diagnostic modality, allowing quantification of the severity of MR and the structural abnormalities within the subvalvular apparatus. Severe MR accompa-nied by rupture of chordae or papillary muscles should be managed with temporary stabilization with medical treatment or with mechanical circulatory support, with sub-sequent surgical intervention to repair or replace the valve.

  4. Clinical presentation, diagnosis and management of acute mitral regurgitation following acute myocardial infarction

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    Rengin Çetin Güvenç

    2016-03-01

    Full Text Available Acute mitral regurgitation (MR is a frequent complication of acute myocardial infarction, with a variable presentation depending on the severity of MR and the integrity of the subvalvular apparatus. While most cases are asymptomatic or have mild dyspnea, rupture of chordae tendinea or papillary muscles are catastrophic complications that may rapidly lead to cardiogenic shock and death. Despite the presence of pulmonary edema and/or cardiogrenic shock, the murmur of acute MR is usually subtle due to rapid equalization of left atrial and left ventricular pressure gradient, and therefore misleading. Echocardiography is the definite diagnostic modality, allowing quantification of the severity of MR and the structural abnormalities within the subvalvular apparatus. Severe MR accompanied by rupture of chordae or papillary muscles should be managed with temporary stabilization with medical treatment or with mechanical circulatory support, with subsequent surgical intervention to repair or replace the valve.

  5. Fetus in Fetu: Case Report and Brief Review of Literature on Embryologic Origin, Clinical Presentation, Imaging and Differential Diagnosis

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    Sitharama, Suhas Aithal; Jindal, Bibekanand; Vuriti, Mrudula Kumari; Naredi, Bikash Kumar; Krishnamurthy, Sriram; Subramania, Deepak Barathi

    2017-01-01

    Summary Background Fetus in fetu (FIF) is a rare entity in which a malformed diamniotic monochorionic parasitic fetal twin develops inside a normal co-twin’s body, most commonly in the abdominal cavity. FIF is differentiated from the teratoma by the presence of vertebral column often with an appropriate arrangement of other organs or limbs around it. Case Report A two-and-a-half-year-old girl presented with a painless abdominal swelling in the right hypochondrium. On imaging, a heterogenous soft tissue mass with internal calcific densities was noted in the retroperitoneum. The mass had vertebral organization, limb and pelvic bones. The presence of a fetiform teratoma was suspected and surgery revealed an encapsulated mass with an anencephalic head, spine, upper and lower limb buds. Histopathology confirmed the presence of a fetus in fetu. The postoperative period was uneventful with no evidence of recurrence. Conclusions FIF is a pediatric rarity. Cross-sectional imaging helps in differentiating it from a teratoma, meconium peritonitis and abdominal ectopic pregnancy. Surgical excision is the treatment of choice for this benign condition, which requires a follow-up only in certain cases. This case report describes a retroperitoneal fetus in fetu and discusses its clinical presentation, differential diagnosis and embryologic origin. PMID:28217238

  6. [Dementia: clinic and diagnosis].

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    Estol, C J

    2001-12-01

    Decline of the cognitive functions necessary for activities of daily living results in a spectrum ranging from benign forgetfulness and minimal cognitive impairment to dementia. The latter is characterized by personality and behavioral changes. Alzheimer's disease is the most frequent cause of dementia affecting almost one of two people older than 80 years. Lewy body and cerebrovascular disease are also frequent causes of cognitive decline. Recent studies have revealed genetic aspects of Alzheimer's disease and the role of certain enzymes in the pathophysiology of fibrillary amyloid deposition. The aim in cognitive disease is an early diagnosis to initiate therapy and adapting measures in the patient's daily routines. The diagnosis is basically clinical with neuroimaging and neuropsychological tests' support. The EEG, SPECT, LP and other studies are only useful in a few specific scenarios. At present, a few promising therapies are being evaluated. Family support is of vital importance.

  7. Clinical experience using the tethered capsule-based spectrally encoded confocal microendoscopy for diagnosis of eosinophilic esophagitis (Conference Presentation)

    Science.gov (United States)

    Do, Dukho; Alali, Sanaz; Kang, DongKyun; Tabatabaie, Nima; Lu, Weina; Grant, Catriona N.; Soomro, Amna R.; Nishioka, Norman S.; Rosenberg, Mireille; Hesterberg, Paul E.; Yuan, Qian; Garber, John J.; Katz, Aubrey J.; Shreffler, Wayne G.; Tearney, Guillermo J.

    2016-03-01

    Eosinophilic Esophagitis (EoE) is caused by food allergies, and defined by histological presence of eosinophil cells in the esophagus. The current gold standard for EoE diagnosis is endoscopy with pinch biopsy to detect more than 15 eosinophils/ High power field (HPF). Biopsy examinations are expensive, time consuming and are difficult to tolerate for patients. Spectrally encoded confocal microscopy (SECM) is a high-speed reflectance confocal microscopy technology capable of imaging individual eosinophils as highly scattering cells (diameter between 8 µm to 15 µm) in the epithelium. Our lab has developed a tethered SECM capsule that can be swallowed by unsedated patients. The capsule acquires large area confocal images, equivalent to more than 30,000 HPFs, as it traverses through the esophagus. In this paper, we present the outcome of a clinical study using the tethered SECM capsule for diagnosing EoE. To date, 32 subjects have been enrolled in this study. 88% of the subjects swallowed the capsules without difficulty and of those who swallowed the capsule, 95% preferred the tethered capsule imaging procedure to sedated endoscopic biopsy. Each imaging session took about 12 ± 2.4 minutes during which 8 images each spanning of 24 ± 5 cm2 of the esophagus were acquired. SECM images acquired from EoE patients showed abundant eosinophils as highly scattering cells in squamous epithelium. Results from this study suggest that the SECM capsule has the potential to become a less-invasive, cost-effective tool for diagnosing EoE and monitoring the response of this disease to therapy.

  8. Nocardial mycetoma: Diverse clinical presentations

    Directory of Open Access Journals (Sweden)

    Sharma Nand

    2008-01-01

    Full Text Available Nocardia spp are gram-positive, aerobic, acid-fast bacteria which exist as saprophytes in nature. Invasive disseminated infections are particularly common in immunocompromised or debilitated hosts. Superficial infections with Nocardia spp occur as a result of local trauma and contamination of the wound. Clinically, it presents as acute infection (abscesses or cellulitis, mycetoma, or sporotrichoid infection. Differential diagnosis includes eumycetoma, chromomycosis, blastomycosis, coccidioidomycosis, sporotrichosis, tuberculosis, botryomycosis, syphilis, yaws, and neoplasia. Its diagnosis is confirmed by demonstrating the causative organism in exudates (as granules, tissue specimens, or cultures. Early diagnosis will obviate need for drastic surgical measures as early institution of chemotherapy is effective in most patients. However, its diagnosis is often delayed due to diverse clinical presentations and for want of clinical suspicion, particularly in non-endemic areas. This paper presents 4 clinical forms of this not so uncommon disease, emphasizing the importance of high index of clinical suspicion, especially in non-endemic regions; and the significance of repeated examination of exudates for Nocardia granules for an early diagnosis.

  9. X-linked adrenoleukodystrophy (X-ALD: clinical presentation and guidelines for diagnosis, follow-up and management

    Directory of Open Access Journals (Sweden)

    Engelen Marc

    2012-08-01

    Full Text Available Abstract X-linked adrenoleukodystrophy (X-ALD is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥C22. A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. The majority of heterozygous females will develop symptoms by the age of 60 years. In individual patients the disease course remains unpredictable. This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder.

  10. An unfortunate case of acquired hemochromatosis: a case report review of the clinical presentation, diagnosis, management, and prognosis

    Directory of Open Access Journals (Sweden)

    Tariq A

    2016-12-01

    Full Text Available Anam Tariq,1 Kevin Westra,2 Arben Santo3 1Department of Internal Medicine, Pinnacle Health Internal Medicine, 2Department of Gastroenterology, Harrisburg Gastroenterology, Harrisburg, PA, 3Department of Pathology, Virginia College of Osteopathic Medicine-Virginia Tech, Blacksburg, VA, USA Background: While blood transfusions are commonly used for prophylaxis and treatment for acute chest syndromes and strokes in sickle cell patients, accumulation of excess iron resulting in secondary hemochromatosis remains a rare disease. Chelation is the mainstay for preventing and treating iron overload to deter potential end-organ damages; it is rare when therapy fails. Case report: A 52-year-old African American woman with chronic anemia secondary to sickle cell anemia and history of multiple blood transfusions presented with elevated serum ferritin (8000 ng/mL and bilirubin (16.8 mg/dL. She had no previous personal or family history of liver disease. A magnetic resonance cholangiopancreatography (MRCP and a liver biopsy confirmed the secondary hemochromatosis with marked fibrosis and 4+ iron deposits, but since she was therapeutically on deferasirox, her treatment regimen involved only closer monitoring. Her hemochromatosis led to readmission within a year for rapid progression of cardiac and hepatic failure. Conclusion: Since chronically transfused sickle cell patients are at a significantly higher risk of mortality due to the secondary hemochromatosis and end-stage organ damage, knowledge of prophylactic iron chelation is important. Minimizing unnecessary transfusions should be strongly emphasized to reduce the sequelae as iron burden remains a threat. The effectiveness of iron-chelating therapy is best monitored via periodic magnetic resonance imaging, liver transaminases, bilirubin, creatinine, ferritin, and cardiac function tests. Despite the prophylactic treatment and quarterly blood work, in this case the initial presentation did not correlate with

  11. Cutaneous sporotrichosis: Unusual clinical presentations

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    Mahajan Vikram

    2010-01-01

    Full Text Available Three unusual clinical forms of sporotrichosis described in this paper will be a primer for the clinicians for an early diagnosis and treatment, especially in its unusual presentations. Case 1, a 52-year-old man, developed sporotrichosis over pre-existing facial nodulo-ulcerative basal cell carcinoma of seven-year duration, due to its contamination perhaps from topical herbal pastes and lymphocutaneous sporotrichosis over right hand/forearm from facial lesion/herbal paste. Case 2, a 25-year-old woman, presented with disseminated systemic-cutaneous, osteoarticular and possibly pleural (effusion sporotrichosis. There was no laboratory evidence of tuberculosis and treatment with anti-tuberculosis drugs (ATT did not benefit. Both these cases were diagnosed by histopathology/culture of S. schenckii from tissue specimens. Case 3, a 20-year-old girl, had multiple intensely pruritic, nodular lesions over/around left knee of two-year duration. She was diagnosed clinically as a case of prurigo nodularis and histologically as cutaneous tuberculosis, albeit, other laboratory investigations and treatment with ATT did not support the diagnosis. All the three patients responded well to saturated solution of potassium iodide (SSKI therapy. A high clinical suspicion is important in early diagnosis and treatment to prevent chronicity and morbidity in these patients. SSKI is fairly safe and effective when itraconazole is not affordable/ available.

  12. [Clinical diagnosis of dyslexia].

    Science.gov (United States)

    Martínez Hermosillo, A; Balderas Gil, A

    1980-01-01

    In 5 years of experience at the Instituto Nacional de la Comunicacion Humana, 302 clinical histories showed the diagnosis of dyslexia. The following parameters were studied: age, sex, heredofamilial history, gestation, psychomotor development, clinical picture, examination of the language (type, reading, spontaneous writing, dictation, mathematic concepts), laterality, scholarship, scholar failures, psychological study. The following results were obtained: Dyslexia was more important or frequent between 5 to 8.9 years of age. Males predominated 3:1. The heredofamilial history was important. Dyslexia prevailed in products of the first gestations. A high disturbance was found in the psychomotor development of a large percent of dyslexic patients. Examination of language was also important. Dyslexia was more frequent in right-handed patients. Scholar failures in one or more instances were found. The psychological study must be done. If dyslexia is diagnosed on time, it may be prevented and all unwanted sequelae may be avoided.

  13. Clinical and Laboratory Diagnosis of Intestinal Tuberculosis

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    Xiao-Chun Shi

    2016-01-01

    Conclusions: ITB is difficult to diagnose even with modern medical techniques due to its nonspecific clinical and laboratory features. At present, combination of clinical, endoscopic, radiological, and pathological features continues to be the key to the diagnosis of ITB.

  14. Meningitis, Clinical Presentation of Tetanus

    Science.gov (United States)

    Moniuszko, Anna; Zajkowska, Agata; Tumiel, Ewa; Rutkowski, Krzysztof; Pancewicz, Sławomir; Rutkowski, Ryszard; Zdrodowska, Agnieszka; Zajkowska, Joanna

    2015-01-01

    Background. Tetanus is an acute disease caused by a neurotoxin produced by Clostridium tetani. Tetanus immunization has been available since the late 1930s but sporadic cases still occur, usually in incompletely vaccinated or unvaccinated individuals. Case Report. An elderly previously vaccinated female contracted tetanus following foot injury. Clinically she presented with meningitis causing diagnostic and therapeutic delays. Why Should Physician Be Aware of This? Even in developed countries the differential diagnosis of meningitis, especially in the elderly, should include tetanus. Treatment in intensive care unit is required. General population might benefit from vaccine boosters and education on this potentially fatal disease. PMID:25789186

  15. Meningitis, Clinical Presentation of Tetanus

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    Anna Moniuszko

    2015-01-01

    Full Text Available Background. Tetanus is an acute disease caused by a neurotoxin produced by Clostridium tetani. Tetanus immunization has been available since the late 1930s but sporadic cases still occur, usually in incompletely vaccinated or unvaccinated individuals. Case Report. An elderly previously vaccinated female contracted tetanus following foot injury. Clinically she presented with meningitis causing diagnostic and therapeutic delays. Why Should Physician Be Aware of This? Even in developed countries the differential diagnosis of meningitis, especially in the elderly, should include tetanus. Treatment in intensive care unit is required. General population might benefit from vaccine boosters and education on this potentially fatal disease.

  16. Clinical Presentation, Diagnosis and Treatment of Attention-Deficit Hyperactivity Disorder (ADHD) in Older Adults: A Review of the Evidence and its Implications for Clinical Care.

    Science.gov (United States)

    Goodman, David W; Mitchell, Sara; Rhodewalt, Lauren; Surman, Craig B H

    2016-01-01

    Although previously considered a disorder of childhood, studies in the last decade have demonstrated that attention-deficit hyperactivity disorder (ADHD) continues to impair function into adulthood and responds to pharmacotherapy. Due to age-specific changes in roles and challenges, it is possible that presentation and response to intervention may differ between older and younger adults. A literature search for papers that identified older adults with ADHD, including papers describing its epidemiology, manifestation, and treatment, was the basis for this paper. There is a paucity of data on ADHD in older adults; however, small observational studies have characterized the presence, impact, and treatment of ADHD in adults over the age of 50 years, and larger epidemiologic studies have demonstrated that ADHD symptoms exist in older adulthood. Optimal criteria for diagnosis of ADHD and methods of treating ADHD in older individuals have not been systematically explored. In light of the limited data, this review discusses considerations for differential diagnosis and safe pharmacotherapy of ADHD in older adults.

  17. Changing trends in the epidemiology, clinical presentation, and diagnosis of Leishmania–HIV co-infection in India

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    Sarman Singh

    2014-12-01

    Full Text Available Following the HIV epidemic, several countries have reported co-infections of Leishmania with HIV. Co-infection with these two pathogens results in rapid disease progression, more severe disease, and a poor response to treatment. A systematic review of the literature from India is presented herein. Since the first case of visceral leishmaniasis (VL and HIV was published from India in 1999, a number of cases of HIV–Leishmania co-infection have been reported, but the proportion has been low (0.029–0.4%, as also reported in other countries where these two diseases are co-endemic. More than 89 cases of VL–HIV and 10 cases of cutaneous leishmaniasis (CL–HIV have been published since 1999. Of these latter 10 cases, five had simple CL and five cases manifested with diffuse cutaneous leishmaniasis (DCL. In addition, one case of post-kala-azar mucocutaneous leishmaniasis in a patient with full-blown AIDS has also been reported. In two cases, it could not be ascertained whether they were cases of DCL or post-kala-azar dermal leishmaniasis from the description. Although the first case of VL–HIV co-infection was reported from the sub-Himalayan state of Uttarakhand, most cases have been reported from the VL endemic state of Bihar. HIV–Leishmania is not alarmingly high in India. Most cases were found to have occurred during 1997–2007. After that, the number of new cases decreased. This is most probably due to the low prevalence of HIV in VL and CL endemic regions and to the free supply of highly active antiretroviral therapy for HIV-infected patients.

  18. Clinical presentation of cerebral aneurysms

    Energy Technology Data Exchange (ETDEWEB)

    Cianfoni, Alessandro [Neurocentro della Svizzera Italiana, Ospedale Civico di Lugano, via Tesserete, 46, 6900 Lugano (Switzerland); Pravatà, Emanuele, E-mail: emanuele.pravata@gmail.com [Neurocentro della Svizzera Italiana, Ospedale Civico di Lugano, via Tesserete, 46, 6900 Lugano (Switzerland); De Blasi, Roberto [Neurocentro della Svizzera Italiana, Ospedale Civico di Lugano, via Tesserete, 46, 6900 Lugano (Switzerland); Tschuor, Costa Silvia [Dipartimento di Radiologia, Ospedale Civico di Lugano, via Tesserete, 46, 6900 Lugano (Switzerland); Bonaldi, Giuseppe [U.O. Neuroradiologia, Ospedali Riuniti di Bergamo, Largo Barozzi, 1, 24128 Bergamo (Italy)

    2013-10-01

    Presentation of a cerebral aneurysm can be incidental, discovered at imaging obtained for unrelated causes, can occur in the occasion of imaging obtained for symptoms possibly or likely related to the presence of an unruptured aneurysm, or can occur with signs and symptoms at the time of aneurismal rupture. Most unruptured intracranial aneurysms are thought to be asymptomatic, or present with vague or non-specific symptoms like headache or dizziness. Isolated oculomotor nerve palsies, however, may typically indicate the presence of a posterior circulation aneurysm. Ruptured intracranial aneurysms are by far the most common cause of non-traumatic subarachnoid hemorrhage and represent a neurological emergency with potentially devastating consequences. Subarachnoid hemorrhage may be easily suspected in the presence of sudden and severe headache, vomiting, meningism signs, and/or altered mental status. However, failure to recognize milder and more ambiguous clinical pictures may result in a delayed or missed diagnosis. In this paper we will describe the clinical spectrum of unruptured and ruptured intracranial aneurysms by discussing both typical and uncommon clinical features emerging from the literature review. We will additionally provide the reader with descriptions of the underlying pathophysiologic mechanisms, and main diagnostic pitfalls.

  19. Clinical presentation of adult coeliac disease.

    LENUS (Irish Health Repository)

    Tajuddin, T

    2012-02-01

    The mode of presentation of coeliac disease has been changing to more atypical or silent disease. Few studies described the clinical presentation of adult coeliac disease in Ireland in recent years. We retrospectively collected the clinical data for all patients who had a diagnosis of coeliac disease made in our centre between January 07 and December 08. Forty seven adults, predominantly females (n = 30), had a confirmed diagnosis of coeliac disease made during the study period. In our patient cohort, the presenting symptom was diarrhoea in 19 (40%) patients, while 16 patients (34%) did not have any G.I. symptoms, 10 (21%) presented with anaemia. Females presented at a significantly younger age compared to males, with median ages at diagnosis of 44.5 and 57 years, respectively (p = 0.04). Females also presented more commonly with non G.I. symptoms (p = 0.07). The reasons behind this gender difference need further study.

  20. The diagnosis of urinary tract infections in young children (DUTY: protocol for a diagnostic and prospective observational study to derive and validate a clinical algorithm for the diagnosis of UTI in children presenting to primary care with an acute illness

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    Downing Harriet

    2012-07-01

    Full Text Available Abstract Background Urinary tract infection (UTI is common in children, and may cause serious illness and recurrent symptoms. However, obtaining a urine sample from young children in primary care is challenging and not feasible for large numbers. Evidence regarding the predictive value of symptoms, signs and urinalysis for UTI in young children is urgently needed to help primary care clinicians better identify children who should be investigated for UTI. This paper describes the protocol for the Diagnosis of Urinary Tract infection in Young children (DUTY study. The overall study aim is to derive and validate a cost-effective clinical algorithm for the diagnosis of UTI in children presenting to primary care acutely unwell. Methods/design DUTY is a multicentre, diagnostic and prospective observational study aiming to recruit at least 7,000 children aged before their fifth birthday, being assessed in primary care for any acute, non-traumatic, illness of ≤ 28 days duration. Urine samples will be obtained from eligible consented children, and data collected on medical history and presenting symptoms and signs. Urine samples will be dipstick tested in general practice and sent for microbiological analysis. All children with culture positive urines and a random sample of children with urine culture results in other, non-positive categories will be followed up to record symptom duration and healthcare resource use. A diagnostic algorithm will be constructed and validated and an economic evaluation conducted. The primary outcome will be a validated diagnostic algorithm using a reference standard of a pure/predominant growth of at least >103, but usually >105 CFU/mL of one, but no more than two uropathogens. We will use logistic regression to identify the clinical predictors (i.e. demographic, medical history, presenting signs and symptoms and urine dipstick analysis results most strongly associated with a positive urine culture result. We will

  1. The Diagnosis of Urinary Tract infection in Young children (DUTY): a diagnostic prospective observational study to derive and validate a clinical algorithm for the diagnosis of urinary tract infection in children presenting to primary care with an acute illness.

    Science.gov (United States)

    Hay, Alastair D; Birnie, Kate; Busby, John; Delaney, Brendan; Downing, Harriet; Dudley, Jan; Durbaba, Stevo; Fletcher, Margaret; Harman, Kim; Hollingworth, William; Hood, Kerenza; Howe, Robin; Lawton, Michael; Lisles, Catherine; Little, Paul; MacGowan, Alasdair; O'Brien, Kathryn; Pickles, Timothy; Rumsby, Kate; Sterne, Jonathan Ac; Thomas-Jones, Emma; van der Voort, Judith; Waldron, Cherry-Ann; Whiting, Penny; Wootton, Mandy; Butler, Christopher C

    2016-01-01

    BACKGROUND It is not clear which young children presenting acutely unwell to primary care should be investigated for urinary tract infection (UTI) and whether or not dipstick testing should be used to inform antibiotic treatment. OBJECTIVES To develop algorithms to accurately identify pre-school children in whom urine should be obtained; assess whether or not dipstick urinalysis provides additional diagnostic information; and model algorithm cost-effectiveness. DESIGN Multicentre, prospective diagnostic cohort study. SETTING AND PARTICIPANTS Children < 5 years old presenting to primary care with an acute illness and/or new urinary symptoms. METHODS One hundred and seven clinical characteristics (index tests) were recorded from the child's past medical history, symptoms, physical examination signs and urine dipstick test. Prior to dipstick results clinician opinion of UTI likelihood ('clinical diagnosis') and urine sampling and treatment intentions ('clinical judgement') were recorded. All index tests were measured blind to the reference standard, defined as a pure or predominant uropathogen cultured at ≥ 10(5) colony-forming units (CFU)/ml in a single research laboratory. Urine was collected by clean catch (preferred) or nappy pad. Index tests were sequentially evaluated in two groups, stratified by urine collection method: parent-reported symptoms with clinician-reported signs, and urine dipstick results. Diagnostic accuracy was quantified using area under receiver operating characteristic curve (AUROC) with 95% confidence interval (CI) and bootstrap-validated AUROC, and compared with the 'clinician diagnosis' AUROC. Decision-analytic models were used to identify optimal urine sampling strategy compared with 'clinical judgement'. RESULTS A total of 7163 children were recruited, of whom 50% were female and 49% were < 2 years old. Culture results were available for 5017 (70%); 2740 children provided clean-catch samples, 94% of whom were ≥ 2 years old

  2. Breast cancer. Present perspective of early diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Brunner, S.

    1987-01-01

    The Third International Copenhagen Symposium on Detection of Breast Cancer afforded a further opportunity for scientists from all over the world to come together and present important papers concerning breast cancer and early diagnosis procedures. The symposium was an opportunity to learn from extensive screening procedures carried out at outstanding centers in the United States, Sweden, the Netherlands, and England. Furthermore, the symposium dealt with new modalities such as ultra-sonography, magnification techniques, and magnetic resonance; and significant contributions concerning self-examination, fine needle aspiration biopsy, and radiation risks were presented. A whole section was also dedicated to the highly important cooperation between radiologist, surgeon, and pathologist.

  3. Clinical Assessment And Diagnosis Of Dementia

    Directory of Open Access Journals (Sweden)

    Srikanth S

    2005-01-01

    Full Text Available Dementia is characterized by progressive decline in an alert individual, leading to loss of independence in day-to-day functioning. It is a generic term for a condition that has various causes and hence myriad clinical presentations. It has to be distinguished from age-related cognitive decline, depression and delirium all of which are common in the elderly population. Detailed history and mental status examination are necessary to identify dementia, fit it into one of the various bedside classifications and pursue the differential diagnosis. This teaching review summarizes current information on definition, differential diagnosis and classification of dementia and presents a brief elaboration of bedside cognitive testing pertaining to dementia. A bird′s eye view of the profiles of various dementia subtypes is also provided so that after reading this article the reader will able to recognize dementia, conduct clinical examination to identify the characteristic cognitive profile and formulate the differential diagnosis with confidence.

  4. Difficulties in clinical diagnosis of peripartum cardiomyopathy

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    Vijayalakshmi B. Channaiah

    2015-06-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a disorder which describes initial left ventricular dysfunction and symptoms of cardiac failure between the late stages of pregnancy and the first five months after delivery. PPCM is a difficult diagnosis to make because it resembles common cardiac issues that are normally experienced during pregnancy. Clinical presentation is representative of cardiac failure and is commonly misdiagnosed until further progression. This disorder is commonly seen in some regions of the world and rare in others. Proper evaluation and rapid treatment are crucial for an effective recovery. Subsequent pregnancies should be evaluated before pursuing. The purpose of this review article is to discuss the difficulties in clinical diagnosis and provide a concise and practical approach to treatment of suspected PPCM. [J Exp Integr Med 2015; 5(2.000: 69-74

  5. Diagnosis of hyperandrogenism: clinical criteria.

    Science.gov (United States)

    Yildiz, Bulent O

    2006-06-01

    Hyperandrogenism or androgen excess is a common endocrine disorder of women of reproductive-age, with a prevalence of 5-10%. The majority of patients with hyperandrogenism will have polycystic ovary syndrome. Hyperandrogenism presents a complex diagnostic challenge for both the practicing physician and the clinical investigator. Clinical manifestations of hyperandrogenism include hirsutism, acne, androgenic alopecia, and virilization. Hirsutism, defined as excessive growth of terminal hair in women in a male-like pattern, is the most commonly used clinical diagnostic criterion of hyperandrogenism. The presence of hirsutism is usually determined by using a standardized scoring system of hair growth. Depending on the definition, hirsutism is present in up to 80% of patients with hyperandrogenism. Acne and androgenic alopecia are other common androgenic skin changes, and might be observed without hirsutism in some hyperandrogenic women. However, isolated presence of any of these manifestations is not used as a diagnostic criterion for hyperandrogenism. Virilization is a relatively uncommon feature of hyperandrogenism, and its presence often suggests an androgen-producing tumor. A thorough history and a focused clinical examination are extremely helpful in diagnostic evaluation of patients with suspected hyperandrogenism.

  6. PREVALENCE, CLINICAL PRESENTATION, DIAGNOSIS AND TREATMENT OF ACUTE PULMONARY OEDEMA IN SEVERE PREGNANCY-INDUCED HYPERTENSION AND ECLAMPSIA CASES IN TRIBAL POPULATION OF SOUTH RAJASTHAN

    Directory of Open Access Journals (Sweden)

    (Brig. Pradeep Kuma

    2016-05-01

    Full Text Available BACKGROUND Pulmonary oedema in severe pregnancy-induced hypertension is a life threatening complication with high maternal mortality, particularly in tribal population of South Rajasthan. METHODS Thirteen cases which occurred in the duration of two and half years were analysed through medical records and findings were recorded. RESULTS Maximum cases 10(76.92% were in less than 20 years of age. 12 (92.30% cases were nulliparous. Out of 13 cases of PIH, pulmonary oedema developed in 5 (38.46% cases of eclampsia and 8 (61.54% cases of severe pregnancy-induced hypertension. 10 (76.92%cases were 28 to 30 weeks of gestation and 3 (23.08% were 31 to 34 weeks of gestation. 8 (61.54% cases were severely anaemic. 12 (92.30% were unbooked cases. CONCLUSION Regular antenatal checkups, early diagnosis, prompt treatment of hypertension and pulmonary oedema and termination of pregnancy is required to prevent maternal death.

  7. Dual diagnosis among physicians: a clinical perspective.

    Science.gov (United States)

    Braquehais, María Dolores; Lusilla, Pilar; Bel, Miquel Jordi; Navarro, María Cecilia; Nasillo, Viviana; Díaz, Albert; Valero, Sergi; Padrós, Jaume; Bruguera, Eugeni; Casas, Miquel

    2014-01-01

    Co-occurrence of mental disorders and substance use disorders (dual diagnosis) among doctors is a cause of serious concern due to its negative personal, professional, and social consequences. This work provides an overview of the prevalence of dual diagnosis among physicians, suggests a clinical etiological model to explain the development of dual diagnosis in doctors, and recommends some treatment strategies specifically for doctors. The most common presentation of dual diagnosis among doctors is the combination of alcohol use disorders and affective disorders. There are also high rates of self-medication with benzodiazepines, legal opiates, and amphetamines compared to the general population, and cannabis use disorders are increasing, mainly in young doctors. The prevalence of nicotine dependence varies from one country to another depending on the nature of public health policies. Emergency medicine physicians, psychiatrists, and anaesthesiologists are at higher risk for developing a substance use disorder compared with other doctors, perhaps because of their knowledge of and access to certain legal drugs. Two main pathways may lead doctors toward dual diagnosis: (a) the use of substances (often alcohol or self-prescribed drugs) as an unhealthy strategy to cope with their emotional or mental distress and (b) the use of substances for recreational or other purposes. In both cases, doctors tend to delay seeking help once a problem has been established, often for many years. Denial, minimization, and rationalization are common defense mechanisms, maybe because of the social stigma associated with mental or substance use disorders, the risk of losing employment/medical license, and a professional culture of perfectionism and denial of emotional needs or failures. Personal vulnerability interacts with these factors to increase the risk of a dual diagnosis developing in some individuals. When doctors with substance use disorders accept treatment in programs

  8. Clinical diagnosis of hyposalivation in hospitalized patients

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    Soraya de Azambuja Berti-Couto

    2012-04-01

    Full Text Available OBJECTIVE: The aim of this study was to evaluate the effectiveness of clinical criteria for the diagnosis of hyposalivation in hospitalized patients. MATERIAL AND METHODS: A clinical study was carried out on 145 subjects (48 males; 97 females; aged 20 to 90 years. Each subject was clinically examined, in the morning and in the afternoon, along 1 day. A focused anamnesis allowed identifying symptoms of hyposalivation, like xerostomia complaints (considered as a reference symptom, chewing difficulty, dysphagia and increased frequency of liquid intake. Afterwards, dryness of the mucosa of the cheecks and floor of the mouth, as well as salivary secretion during parotid gland stimulation were assessed during oral examination. RESULTS: Results obtained with Chi-square tests showed that 71 patients (48.9% presented xerostomia complaints, with a significant correlation with all hyposalivation symptoms (p <0.05. Furthermore, xerostomia was also significantly correlated with all data obtained during oral examination in both periods of evaluation (p<0.05. CONCLUSION: Clinical diagnosis of hyposalivation in hospitalized patients is feasible and can provide an immediate and appropriate therapy avoiding further problems and improving their quality of life.

  9. Cugini's syndrome: its clinical history and diagnosis

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    Laura Gasbarrone

    2013-09-01

    Full Text Available INTRODUCTION: This article deals with the description and diagnosis of a new nosographic syndrome, which received the eponym of "Cugini's syndrome" by the name of the Author who discovered its clinical picture. This syndrome is characterized by the binomial: "minimal target organ damage associated to monitoring prehypertension". CLINICAL HISTORY AND DIAGNOSIS: Between the years 1997 and 2002, the Author published a series of investigations regarding some office normotensives who inexplicably showed incipient signs of target organ damage (TOD. Investigated via ambulatory (A blood (B pressure (P monitoring (M, these subjects were surprisingly found not to be hypertensive. Neverthless, the office normotensives with TOD exibited the daily mean level of their systolic (S and diastolic (D BP (DML SBP/DBP significantly more elevated as compared to true normotensives. Because of these ABPM findings, the Author realized that the investigated subjects were false normotensives whose TOD was associated with a monitoring prehypertension (ABPM-diagnosable prehypertension alias monitoring prehypertension alias masked prehypertension. The year after the last Cugini's investigation, the INC-7 Reports introduced the term: "prehypertension" in its classification of arterial hypertension, as an office sphygmomanometric condition in between office normotension and office hypertension. The ABPM cut-off upper limits for a differential diagnosis between monitoring normotension, prehypertension and hypertension are reported, as calculated by the Author in its collection of ABPMs. The eponym of "Cugini's syndrome" was assigned in 2007 and confirmed in 2009. CONCLUSIVE REMARKS: The monitoring prehypertension is a further condition of discrepancy between office sphygmomanometry and ABPM, as per a masked prehypertension, whose diagnosis has to be immediately diagnosed, for preventing the onset of a TOD. There are reported the present investigations dealing with the possible

  10. Breast cancer. Present perspective of early diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Bruenner, S.; Langfeldt, B. (eds.)

    1987-01-01

    This book contains outstanding papers presented at the 3rd International Copenhagen Symposium on Detection of Breast Cancer, 1985. The Symposium was an opportunity to learn from extensive screening procedures carried out at outstanding centers in the United States, Sweden, the Netherlands, and England. Furthermore, the symposium dealt with new modalities such as ultrasonography, magnification techniques, and magnetic resonance; and very important contributions concerning self-examination, fine needle aspiration biopsy, and radiation risks were presented. A whole section was also dedicated to the highly important cooperation between radiologist, surgeon, and pathologist. With 59 figs., 43 tabs.

  11. Knee osteoarthrosis: Clinical presentation, diagnosis, treatment

    Directory of Open Access Journals (Sweden)

    Vladimir Vasilyevich Badokin

    2013-10-01

    Full Text Available Glucosamine sulfate or hydrochloride and chondroitin sulfate belong to the natural components of cartilage intercellular substance. In osteoarthrosis, they exert a pronounced symptom-modifying effect and, when used long, are also able to suppress the X-ray progression of the disease. Multi-ingredient medications containing glucosamine and chondroitin have benefits over each of them when used alone. These drugs include teraflex. The efficacy of pharmacological agents appears to be associated not so much with the stimulation of cartilage matrix synthesis as with their anti-inflammatory properties.

  12. Knee osteoarthrosis: Clinical presentation, diagnosis, treatment

    Directory of Open Access Journals (Sweden)

    Vladimir Vasilyevich Badokin

    2013-01-01

    Full Text Available Glucosamine sulfate or hydrochloride and chondroitin sulfate belong to the natural components of cartilage intercellular substance. In osteoarthrosis, they exert a pronounced symptom-modifying effect and, when used long, are also able to suppress the X-ray progression of the disease. Multi-ingredient medications containing glucosamine and chondroitin have benefits over each of them when used alone. These drugs include teraflex. The efficacy of pharmacological agents appears to be associated not so much with the stimulation of cartilage matrix synthesis as with their anti-inflammatory properties.

  13. Pyogenic sacroiliitis: diagnosis, management and clinical outcome

    Energy Technology Data Exchange (ETDEWEB)

    Kucera, Tomas; Sponer, Pavel [Charles University in Prague, Faculty of Medicine and University Hospital in Hradec Kralove, Department of Orthopaedic Surgery, Hradec Kralove (Czech Republic); Brtkova, Jindra [Charles University in Prague, Faculty of Medicine and University Hospital in Hradec Kralove, Department of Diagnostic Radiology, Hradec Kralove (Czech Republic); Ryskova, Lenka [Charles University in Prague, Faculty of Medicine and University Hospital in Hradec Kralove, Department of Clinical Microbiology, Hradec Kralove (Czech Republic); Popper, Eduard [Charles University in Prague, Faculty of Medicine and University Hospital in Hradec Kralove, Department of Rehabilitation, Hradec Kralove (Czech Republic); Frank, Martin [Charles University in Prague, Faculty of Medicine and University Hospital in Hradec Kralove, Department of Surgery, Hradec Kralove (Czech Republic); Kucerova, Marie [Regional Hospital in Pardubice, Department of Neurosurgery, Hradec Kralove (Czech Republic)

    2015-01-15

    The purpose of the present study was to evaluate the role of diagnostic tools and management options for patients with pyogenic sacroiliitis, including potential complications. This retrospective study included 16 patients with pyogenic sacroiliitis who were admitted to a single orthopaedic centre between 2007 and 2012. The following data were collected: demographics, history, radiography, magnetic resonance images (MRI), biological data, type of pathogenic agent, abscess formation, type of management, and clinical outcome. Our study demonstrated that only one-fifth of the patients with lumbogluteal or hip pain had established diagnoses of suspected pyogenic sacroiliitis upon admission. MRIs confirmed this diagnosis in all cases. MRI examinations revealed joint fluid in the sacroiliac joint and significant oedema of the adjacent bone and soft tissues. In 12 of the 16 cases, erosions of the subchondral bone were encountered. Contrast-enhanced MRI revealed that 9 patients had abscesses. All patients received antibiotic therapy. Antibiotic treatment was only successful in 9 cases. The other 7 patients underwent computed tomography (CT)-guided abscess drainage. Drainage was sufficient for 4 patients, but 3 patients required open surgery. One patient required sacroiliac arthrodesis. The clinical outcomes included minimal disability (n = 10), moderate disability (n = 5), and full disability (n = 1) of the spine. Contrast-enhanced MRI is mandatory for a reliable diagnosis. Abscess formation was observed in approximately half of the MRI-diagnosed sacroiliitis cases and required minimally invasive drainage under CT guidance or frequently open surgery. (orig.)

  14. The clinical presentation of preterm cerebellar haemorrhage

    NARCIS (Netherlands)

    G.M. Ecury-Goossen (Ginette); J. Dudink (Jeroen); M. Leguin (Maarten); M. Feijen-Roon (Monique); S. Horsch (Sandra); P. Govaert (Paul)

    2010-01-01

    textabstractThe objective of this study was to evaluate clinical symptoms and findings on cranial ultrasound (CUS) in preterm infants with cerebellar haemorrhage through retrospective analysis of all preterm infants with a postnatal CUS or MRI diagnosis of cerebellar haemorrhage admitted in a tertia

  15. Clinical presentation and evaluation of dermatomyositis

    Directory of Open Access Journals (Sweden)

    Umaima Marvi

    2012-01-01

    Full Text Available Dermatomyositis (DM is a chronic inflammatory disorder of the skin and muscles. Evidence supports that DM is an immune-mediated disease and 50-70% of patients have circulating myositis-specific auto-antibodies. Gene expression microarrays have demonstrated upregulation of interferon signaling in the muscle, blood, and skin of DM patients. Patients with classic DM typically present with symmetric, proximal muscle weakness, and skin lesions that demonstrate interface dermatitis on histopathology. Evaluation for muscle inflammation can include muscle enzymes, electromyogram, magnetic resonance imaging, and/or muscle biopsy. Classic skin manifestations of DM include the heliotrope rash, Gottron′s papules, Gottron′s sign, the V-sign, and shawl sign. Additional cutaneous lesions frequently observed in DM patients include periungual telangiectasias, cuticular overgrowth, "mechanic′s hands", palmar papules overlying joint creases, poikiloderma, and calcinosis. Clinically amyopathic DM is a term used to describe patients who have classic cutaneous manifestations for more than 6 months, but no muscle weakness or elevation in muscle enzymes. Interstitial lung disease can affect 35-40% of patients with inflammatory myopathies and is often associated with the presence of an antisynthetase antibody. Other clinical manifestations that can occur in patients with DM include dysphagia, dysphonia, myalgias, Raynaud phenomenon, fevers, weight loss, fatigue, and a nonerosive inflammatory polyarthritis. Patients with DM have a three to eight times increased risk for developing an associated malignancy compared with the general population, and therefore all patients with DM should be evaluated at the time of diagnosis for the presence of an associated malignancy. This review summarizes the immunopathogenesis, clinical manifestations, and evaluation of patients with DM.

  16. Clinical and Laboratory Diagnosis of Intestinal Tuberculosis

    Institute of Scientific and Technical Information of China (English)

    Xiao-Chun Shi; Li-Fan Zhang; Yue-Qiu Zhang; Xiao-Qing Liu; Gui-Jun Fei

    2016-01-01

    Background:Tuberculosis (TB) remains a worldwide problem.Intestinal TB (ITB) constitutes a major public health problem in developing countries and has been associated with significant morbidity and mortality.The aim of this study was to characterize the clinical,radiological,endoscopic,and pathological features of ITB and to define the strategy for establishing the diagnosis.Methods:A retrospective study (from January 2000 to June 2015) was carried out in Peking Union Medical College Hospital and all hospitalized cases were diagnosed as ITB during the study period were included.The relevant clinical information,laboratory results,microbiological,and radiological investigations were recorded.Results:Of the 85 cases,61 cases (71.8%) were ranged from 20 to 50 years.The ileocecal region was involved in about 83.5% (71/85) of patients.About 41.2% (35/85) of patients had co-existing extra ITB,especially active pulmonary TB.Abdominal pain (82.4%) was the most common presenting symptom followed by weight loss (72.9%) and fever (64.7%).Both T-cell spot of TB test (T-SPOT.TB) and purified protein derivatives (PPD) tests were performed in 26 patients:20 (76.9%) positive T-SPOT.TB and 13 (50.0%) positive PPD were detected,with a statistical significant difference (P =0.046).Twenty cases (23.5%) were histopathology and/or pathogen confirmed TB;27 cases (31.8%) were diagnosed by clinical manifestation consistent with ITB and evidence of active extra ITB;38 cases (44.7%) were diagnosed by good response to diagnostic anti-TB therapy.Conclusions:ITB is difficult to diagnose even with modem medical techniques due to its nonspecific clinical and laboratory features.At present,combination of clinical,endoscopic,radiological,and pathological features continues to be the key to the diagnosis of ITB.

  17. Autoimmune encephalitis: Clinical diagnosis versus antibody confirmation

    Directory of Open Access Journals (Sweden)

    Asha Caroline Cyril

    2015-01-01

    Full Text Available Context: Autoimmune encephalitis is a heterogeneous disorder which is being diagnosed with increasing frequency. The diagnosis of these disorders is based on the detection of autoantibodies and characteristic clinical profiles. Aims: We aimed to study the antibody profile in encephalitis patients with suspected autoimmune etiology presenting to a tertiary care center. Settings and Design: The subjects were selected by screening all patients with clinical profile suggesting autoimmune encephalitis admitted in the neuromedical intensive care unit (ICU of a tertiary care center in South India. Materials and Methods: Patients who fulfilled modified Zuliani et al.′s, criteria for autoimmune encephalitis were identified during the period December 2009-June 2013. Blood samples from these subjects were screened for six neuronal antibodies. Statistical analysis used: Chi-square test was applied to compare the antibody positive and negative patients. Results: Out of 1,227 patients screened, 39 subjects (14 males: 25 females were identified with a mean age of 15.95 years and 19 cases were assessed in the acute and 20 in the convalescent phase of the illness. Seizure (87.8 % was the most common presenting symptom; status epilepticus occurred in 23 (60.5% patients during the course of the illness. Fourteen (35.9% patients were N-methyl-D-aspartate receptor (NMDAR antibody-positive and all were negative for the other antibodies tested. Conclusions: One-third of patients presenting with acute noninfective encephalitis would be positive for NMDAR antibodies with the remaining two-thirds with clinically suspected autoimmune encephalitis being antibody-negative. There are few markers in the clinical and investigative profiles to distinguish antibody-positive and -negative patients.

  18. Neurosarcoidosis: Clinical manifestations, diagnosis and treatment.

    Science.gov (United States)

    Nozaki, Kenkichi; Judson, Marc A

    2012-06-01

    Sarcoidosis is an idiopathic granulomatous disease affecting multiple organs. Neurosarcoidosis, involving the central and/or peripheral nervous systems, is a relatively rare form of sarcoidosis. Its clinical manifestations include cranial neuropathies, meningitis, neuroendocrinological dysfunction, hydrocephalus, seizures, neuropsychiatric symptoms, myelopathy and neuropathies. The diagnosis is problematic, especially when occurring as an isolated form without other organ involvement. Distinguishing neurosarcoidosis from other granulomatous diseases and multiple sclerosis is especially important. Although biopsy of neural tissue is the gold standard for the diagnosis of neurosarcoidosis, this is often not practical and the diagnosis must be inferred though other tests, often coupled with biopsy of extraneural organs. Corticosteroids and other immuno-suppressants are frequently used for the treatment of neurosarcoidosis. This article reviews the epidemiology, pathogenesis, pathology, clinical features, diagnosis, diagnostic tests, diagnostic criteria, and therapy of neurosarcoidosis.

  19. Common Presentation with Uncommon Diagnosis: Multifocal Epithelioid Hemangioendothelioma

    Directory of Open Access Journals (Sweden)

    Susmita Kundu

    2015-11-01

    Full Text Available A young female patient presenting with recurrent hemoptysis, neck swelling, and mediastinal mass mimicking lymphadenopathy was admitted to the Institute of Post Graduate Medical Education and Research and SSKM hospital, Kolkata, India. Clinical features, radiological studies, fibre optic bronchoscopy, and fine needle aspiration cytology from the neck swelling created a diagnostic dilemma until surgical resection and immunohistochemistry reports confirmed the diagnosis of multifocal epithelioid hemangioendothelioma, a rare vascular tumor with intermediate malignancy potential. Because it is a slow-progressing disease and due to the non-availability of standard chemotherapy, the patient, and her legal guardian, opted for palliative care only. She was asymptomatic for four years but again presented with hemoptysis, reappearance of the neck swelling on the same side, and a mediastinal mass compressing the superior vena cava and right pulmonary artery. This report describes the diagnostic problems and therapeutic challenges in the management of this rare tumor over a four-year follow-up period. The clinical course emphasizes the highly unpredictable nature of this tumor.

  20. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were consiste......This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49¿500. Among routinely used diagnostic tests, none were...

  1. Clinical presentation and mutations in Danish patients with Wilson disease

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Horn, Nina; Jeppesen, Tina Dysgaard

    2011-01-01

    This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were consiste......This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49 500. Among routinely used diagnostic tests, none were...

  2. [Diagnosis and Clinical Examination of Autoinflammatory Syndrome].

    Science.gov (United States)

    Ida, Hiroaki

    2015-05-01

    Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways. The main monogenic autoinflammatory syndromes are familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndrome (CAPS), Blau syndrome, and pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome. We diagnosed these syndromes as clinical manifestations and performed genetic screening. Many serum cytokines are elevated in patients with autoinflammatory syndrome, but this is not disease-specific. The pathogeneses of many autoinflammatory syndromes are known to be related to inflammasomes, which are multiprotein complexes that serve as a platform for caspase 1 activation and interleukin-1β (IL-1β) and IL-18 muturation. Especially, NLRP3 inflammasomes may play a crucial role in the intiation and progression of FMF and CAPS. In the future, we hope to discover new clinical examinations which can provide evidence of inflammasome activation independent of genetic screening. In this issue, I introduce autoinflammatory syndromes and discuss the diagnosis and clinical examination of these syndromes.

  3. Femoral hernia; Clinical significance of radiologic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Bergenfeldt, M.; Lasson, A. (Lund University (Sweden). Department of Surgery Malmo General Hospital (Sweden)); Ekberg, O.; Kesek, P. (Lund University (Sweden). Department of Radiology Malmo General Hospital (Sweden))

    A retrospective study of 18 patients with femoral hernia assessed by herniography is presented. Although a palpable lump was present in 11 patients (61%), the diagnosis of a femoral hernia was not made before herniography. Surgical exploration was performed in 12 patients and a femoral hernia was found and repaired with beneficial outcome in 9 of them. In conclusion: herniography is of value for the diagnosis of a femoral hernia in patients with obscure groin pain. (author). 14 refs.; 2 figs.

  4. Catamenial migraine: epidemiology, pathogenesis, diagnosis, clinical features

    Directory of Open Access Journals (Sweden)

    S A Gromova

    2010-01-01

    Full Text Available Based on a review of the literature, the authors consider the pathogenesis, diagnosis, epidemiology, and clinical features of catamenial migraine. The view that catamenial migraine attacks are severest receives more and more support. The criteria that may be used to predict a severer course of catamenial migraine attacks in a specific patient are to be further defined.

  5. Leptospirosis: epidemiology, clinical aspects and diagnosis

    NARCIS (Netherlands)

    M.G.A. Goris (Marga)

    2016-01-01

    markdownabstractLeptospirosis is among the most widespread zoonotic diseases in the world. The clinical manifestations of the disease are not specific, can vary widely and therefore are consistent with many other diseases. A diagnosis can only be confirmed with certainty by laboratory tests. Infecti

  6. Nasopharyngeal bursitis: from embryology to clinical presentation

    OpenAIRE

    2010-01-01

    AE El-Shazly, S Barriat, PP LefebvreDepartment of Otorhinolaryngology and Head and Neck Surgery, Liege University Hospital, Liege, BelgiumAbstract: Nasopharyngeal bursitis is a relatively rare syndrome characterized by a collection of symptoms that multidisciplinary specialists should be aware of. Here we present an audit of cases presenting to a rhinology clinic over a two-year period, as well as an overview of the relevant embryology and different clinical presentations of nasopharyngeal bu...

  7. On information field of clinical diagnosis

    Institute of Scientific and Technical Information of China (English)

    曹茂开

    2003-01-01

    "Field" is a universal phenomenon existing in both nature and society,and determines the existence and significance of all materials or information.The man being has always been generating and carrying a large quantity of life information in his whole life.Each piece of life information has an independent information field.The life information field includes such three subfields as bioinformation field,psychoinformation field and psycho-bioinformation field.The clinical diagnosis information field which is a specific information field within the information field of human activities consists of all information concerning man's health.Only after we have cognized and ascertained the clinic diagnosis information field,can we accurately utilize its function to serve the human being.

  8. Clinical Manifestations and Diagnosis of Acromegaly

    Directory of Open Access Journals (Sweden)

    Gloria Lugo

    2012-01-01

    Full Text Available Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Acromegaly is a disabling disease that is associated with increased morbidity and reduced life expectancy. The diagnosis is based primarily on clinical features and confirmed by measuring GH levels after oral glucose loading and the estimation of IGF-I. It has been suggested that the rate of mortality in patients with acromegaly is correlated with the degree of control of GH. Adequately treated, the relative mortality risk can be markedly reduced towards normal.

  9. Clinical Manifestations and Diagnosis of Acromegaly

    OpenAIRE

    Gloria Lugo; Lara Pena; Fernando Cordido

    2012-01-01

    Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Ac...

  10. Pediatric insomnia: clinical, diagnosis, and treatment.

    Science.gov (United States)

    Miano, Silvia; Peraita-Adrados, Rosa

    2014-01-01

    Pediatric insomnia is an extrinsic sleep disorder subdivided into two categories: behavioral insomnia and insomnia related to medical, neurological, and psychiatric diseases. This review will cover several types of insomnia, comorbidities and specific pediatric therapies according to clinical characteristics and age. Behavioral insomnia should be differentiated from pediatric insomnia due to medical conditions, mostly occurring during the first year of life. Multiple night awakenings and diurnal hypersomnolence are strong indicators of insomnia due to medical conditions. Insomnia during adolescence and pediatric insomnia associated with psychiatric comorbidity, cognitive disabilities and epilepsy, will be discussed in terms of diagnosis, clinical features and implications for treatment.

  11. Chronic hepatitis C presenting with a diagnosis of hepatocellular carcinoma

    DEFF Research Database (Denmark)

    Hallager, Sofie; Weis, Nina

    2014-01-01

    Chronic hepatitis C (CHC) affects around 16,000 individuals in Denmark of whom about 50% are diagnosed. In the presence of CHC and cirrhosis the annual risk of hepatocellular carcinoma (HCC) is 1-5%. We report on two patients who presented with disseminated HCC at the time of CHC diagnosis...

  12. Delayed presentation of pseudoaneurysm complicating closed humeral fracture: MR diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Harris, O. [Dept. of Radiology, Whiston Hospital, Liverpool (United Kingdom); Roche, C.J.; Torreggiani, W.C.; Munk, P.L. [Dept. of Radiology, Vancouver General Hospital (Canada); Ritchie, D.A.; McWilliams, R. [Dept. of Radiology, Royal Liverpool University Hospital (United Kingdom); Jane, M. [Dept. of Orthopaedic Surgery, Royal Liverpool University Hospital (United Kingdom)

    2001-11-01

    Vascular injuries resulting from closed fractures of the humerus are rare. We describe two patients who developed unsuspected pseudoaneurysms following closed humeral fracture. Both patients presented with a mass, suspicious for malignancy. In each case, diagnosis was made by magnetic resonance imaging. (orig.)

  13. Rules for clinical diagnosis in babies with ambiguous genitalia.

    Science.gov (United States)

    Low, Y; Hutson, J M

    2003-08-01

    Intersex disorders are rare and complex; yet, in each case of genital ambiguity, accurate and expeditious management is required of the clinician. This article reviews the embryology of sexual differentiation, from which some 'rules' of diagnosis are derived. A simplified approach to the interpretation of clinical signs in ambiguous genitalia is presented and discussed.

  14. Functional (psychogenic) movement disorders - Clinical presentations.

    Science.gov (United States)

    Hallett, Mark

    2016-01-01

    Functional or psychogenic movement disorders are common and disabling, and sometime difficult to diagnose. The history and physical exam can give positive features that will support the diagnosis, which should not be based solely on exclusion. Some clues in the history are sudden onset, intermittent time course, variability of manifestation over time, childhood trauma, history of other somatic symptom and secondary gain. Anxiety and depression are common, but not necessarily more than the general population. On examination, distraction and suggestibility may be present. There are specific signs that should be looked for with different types of movements. For example, with tremor, change in frequency over time and entrainment are common features. With myoclonus, the movements might be complex in type with long latencies to stimulus induced jerks. Gait disorders show good balance despite claims to the contrary. Functional dystonia still remains a challenging diagnosis in many circumstances, although fixed dystonia is one sign more likely to be functional.

  15. Clinical and Para-Clinical Presentations of Endobronchial Tuberculosis

    Directory of Open Access Journals (Sweden)

    Seyyed Hosein Ahmadi Hoseini

    2015-11-01

    Full Text Available Introdution: Tuberculosis (TB, with different types of respiratory tract involvements, has a high rate of mortality all around the world. Endobronchial involvement, which is a slightly common tuberculous infection, requires special attention due to its severe complications such as bronchostenosis. Aim of study of this study was describes, one type of pulmonary tuberculosis with less diagnosed and delayed treatment. High suspicious needs to diagnose and may be need bronchoscopy for confirmed the diagnosis. It can be associated with sever complication and early diagnosis and treatment are necessary for prevention of adverse effect.   Materials and Methods: This retrospective study was conducted in a teaching hospital during 2005-2010. Patients diagnosed with endobronchial tuberculosis through bronchoscopic biopsy were included in the study. Diagnosis was confirmed by observation of caseous necrosis, bronchial lavage fluid or positive acid-fast staining in tissue samples obtained through bronchial biopsy. Moreover, demographic information, endobronchial view, lab tests, as well as clinical and radiographic findings were reviewed and evaluated retrospectively. Results: A total of 20 cases were confirmed with endobronchial tuberculosis, 75% of whom were female with the mean age of 60 years. The results showed that the most common clinical symptom was cough (80%, the most common finding in the chest X-ray was consolidation (75%, and the most common bronchoscopic feature was anthracosis (55%. Conclusion: TB is still a major concern, particularly in the developing countries. Thus, in order for early diagnosis and prevention of this disease, we need to pay meticulous attention to its clinical manifestations and bronchoscopic features.

  16. Clinical Presentation and Magnetic Resonance Findings in Sellar Tuberculomas

    Directory of Open Access Journals (Sweden)

    Dulce Bonifacio-Delgadillo

    2014-01-01

    Full Text Available Background and Importance. Sellar tuberculomas are extremely rare lesions with nonspecific clinical manifestations. The tuberculous infection of the pituitary gland and sellar region is characterized by the presence of an acute or chronic inflammatory reaction and may occur in the absence of systemic tuberculosis. The diagnosis is difficult prior to the surgery. An adequate diagnostic and antituberculous drugs usually result in a good outcome. Clinical Presentation. We report four cases of sellar tuberculoma, 3/1 female/male, age range: 50–57 years. All patients had visual disturbances and low levels of cortisol. Conclusion. The clinical diagnosis of sellar tuberculoma is a challenge and should be suspected when a sellar lesion shows abnormal enhancement pattern and stalk involvement, and absence of signal suppression in FLAIR.

  17. Vertebral osteomyelitis: clinical features and diagnosis.

    Science.gov (United States)

    Eren Gök, S; Kaptanoğlu, E; Celikbaş, A; Ergönül, O; Baykam, N; Eroğlu, M; Dokuzoğuz, B

    2014-10-01

    We aimed to describe clinical and diagnostic features of vertebral osteomyelitis for differential diagnosis and treatment. This is a prospective observational study performed between 2002 and 2012 in Ankara Numune Education and Research Hospital in Ankara, Turkey. All the patients with vertebral osteomyelitis were followed for from 6 months to 3 years. In total, 214 patients were included in the study, 113 out of 214 (53%) were female. Out of 214 patients, 96 (45%) had brucellar vertebral osteomyelitis (BVO), 63 (29%) had tuberculous vertebral osteomyelitis (TVO), and 55 (26%) had pyogenic vertebral osteomyelitis (PVO). Mean number of days between onset of symptoms and establishment of diagnosis was greater with the patients with TVO (266 days) than BVO (115 days) or PVO (151 days, p 15 mm, sensitivity was 0.66, specificity was 0.97, positive predictive value was 0.89, negative predictive value was 0.88, and receiver operating characteristics area was 0.8. Tuberculous and brucellar vertebral osteomyelitis remained the leading causes of vertebral osteomyelitis with delayed diagnosis. In differential diagnosis of vertebral osteomyelitis, consumption of unpasteurized cheese, dealing with husbandry, sweating, arthralgia, hepatomegaly, elevated alanine transaminase, and lumbar involvement in magnetic resonance imaging were found to be predictors of BVO, thoracic involvement in magnetic resonance imaging and tuberculin skin test > 15 mm were found to be predictors of TVO, and history of spinal surgery and leucocytosis were found to be predictors of PVO.

  18. [Clinical presentation of tuberculosis in routine practice].

    Science.gov (United States)

    Dinser, R; Frerix, M; Müller-Ladner, U

    2012-10-01

    Since the beginning of the biologics era tuberculosis is known to be a potential life-threatening complication during treatment of patients with rheumatic diseases. National and international societies have developed recommendations for tuberculosis screening and treatment of patients at risk for development of tuberculosis. Owing to the relative rareness of overt tuberculosis in patients with rheumatic diseases, the experience of individual rheumatologists with this complication is limited. Therefore, we have analyzed the tuberculosis cases from 2006-2011 in our rheumatology referral center (treating more than 1,500 inpatient and 8,000 outpatient cases every year) to obtain a real-life picture more than 10 years after initiation of the first application of biologics outside of controlled clinical trials. We identified 4 cases that illustrate the difficulties of diagnosis and treatment.

  19. Endophthalmitis: Pathogenesis, clinical presentation, management, and perspectives

    Directory of Open Access Journals (Sweden)

    M Kernt

    2010-03-01

    Full Text Available M Kernt, A KampikDepartment of Ophthalmology, Ludwig Maximilian University, Munich, GermanyAbstract: Endophthalmitis is a rare but sight-threatening complication that can occur after ocular surgery or trauma or as a consequence of systemic infection. To optimize visual outcome, early diagnosis and treatment are essential. Over recent decades, advances in hygienic standards, improved microbiologic and surgical techniques, development of powerful antimicrobial drugs, and the introduction of intravitreal antibiotic therapy have led to a decreased incidence and improved management of endophthalmitis. However, endophthalmitis still represents a serious clinical problem. This review focuses on current principles and techniques for evaluation and treatment of endophthalmitis. In addition, it addresses recent developments regarding antimicrobial treatment and prophylaxis of infectious endophthalmitis.Keywords: endophthalmitis, intravitreal, antibiotics, victrectomy, moxifloxacin, voriconazole, caspofungin

  20. Clinical diagnosis of tamponade in Malawi.

    Science.gov (United States)

    Round, A; Hamilton, W

    1990-07-01

    A consecutive series of 25 Malawian patients with tamponade secondary to tuberculosis were compared to 25 patients with congestive cardiac failure, without pericardial effusion in a retrospective study. More patients with tamponade had an impalpable apex beat (21/1), pulsus paradoxus (13/0), soft heart sounds (13/2), paradoxical rise in jugular venous pressure (6/0), and fewer had a murmur (1/14). All these results are significant (p less than 0.05) by the chi 2 test with Yates' correction. The presence of two or more of these discriminating physical signs has a positive predictive value of 75 per cent, and a negative predictive value of 99.5 per cent for the diagnosis of tamponade. Clinical diagnosis of tamponade by primary health care personnel in Malawi should be possible, and lead to earlier treatment.

  1. [Disseminated intravascular coagulation: clinical and biological diagnosis].

    Science.gov (United States)

    Touaoussa, Aziz; El Youssi, Hind; El Hassani, Imane; Hanouf, Daham; El Bergui, Imane; Zoulati, Ghizlane; Amrani Hassani, Moncef

    2015-01-01

    Disseminated intravascular coagulation (DIC) is a syndrome characterized by the systemic activation of blood coagulation. Its pathophysiological mechanisms are complex and dependent on the underlying pathology, making the clinical and biological expression of quite variable DIC. Among the various biological parameters disrupted, most are not specific, and none of them allows in itself to make the diagnosis. All this does not facilitate the task of the practitioner for diagnosis of overt DIC, much less that of the non-overt DIC, early stage whose treatment would improve the prognosis. These considerations have led to develop scores, combining several parameters depending on their availability in daily practice, as well as their diagnostic relevance. Of all the scores, the ISTH (International society of thrombosis and hemostasis) remains the most used.

  2. Presentation and Diagnosis of Hypersensitivity to Platinum Drugs.

    Science.gov (United States)

    Caiado, Joana; Castells, Mariana

    2015-04-01

    Hypersensitivity reactions (HSRs) to platinum drugs are increasing due to their extensive use in a wide variety of malignancies and the repeated exposures in patients with increased life expectancy. Understanding the incidence of HSR to platinum drugs and associated risk factors can help with the diagnosis and may provide protection against severe HSRs. A thorough clinical history with identification of the typical and atypical symptoms, the relationship with the platin administration, and the number of previous exposures are the key to the diagnosis. An elevated serum tryptase at the time of the HSR indicates that IgE and/or mast cells/basophils were involved in the HSR. Skin testing to platinum drugs is a highly sensitive and specific diagnostic tool, which helps provide risk stratification and management recommendations. Platinum specific IgE measurement and basophil activation test (BAT) are emerging as new diagnostic tools and in combination with skin testing can help support the diagnosis and the cross-reactivity between the three most commonly used platinum drugs, namely carboplatin, cisplatin, and oxaliplatin.

  3. Clinical presentation of juvenile Huntington disease

    Directory of Open Access Journals (Sweden)

    Ruocco Heloísa H.

    2006-01-01

    Full Text Available OBJECTIVE: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. METHOD: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. RESULTS: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001 and reduced cerebral and cerebellum volumes (p=0.01. CONCLUSION: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.

  4. Probabilistic and fuzzy logic in clinical diagnosis.

    Science.gov (United States)

    Licata, G

    2007-06-01

    In this study I have compared classic and fuzzy logic and their usefulness in clinical diagnosis. The theory of probability is often considered a device to protect the classical two-valued logic from the evidence of its inadequacy to understand and show the complexity of world [1]. This can be true, but it is not possible to discard the theory of probability. I will argue that the problems and the application fields of the theory of probability are very different from those of fuzzy logic. After the introduction on the theoretical bases of fuzzy approach to logic, I have reported some diagnostic argumentations employing fuzzy logic. The state of normality and the state of disease often fight their battle on scalar quantities of biological values and it is not hard to establish a correspondence between the biological values and the percent values of fuzzy logic. Accordingly, I have suggested some applications of fuzzy logic in clinical diagnosis and in particular I have utilised a fuzzy curve to recognise subjects with diabetes mellitus, renal failure and liver disease. The comparison between classic and fuzzy logic findings seems to indicate that fuzzy logic is more adequate to study the development of biological events. In fact, fuzzy logic is useful when we have a lot of pieces of information and when we dispose to scalar quantities. In conclusion, increasingly the development of technology offers new instruments to measure pathological parameters through scalar quantities, thus it is reasonable to think that in the future fuzzy logic will be employed more in clinical diagnosis.

  5. [Minimal hepatic encephalopathy: characteristics, diagnosis and clinical implications].

    Science.gov (United States)

    Torre Delgadillo, Aldo; Guerrero-Hernández, Ignacio; Uribe, Misael

    2006-01-01

    The term minimal hepatic encephalopathy (MHE) refers to the subtle changes in cognitive function, electrophysiological parameters, cerebral neurochemical/neurotransmitter homeostasis, cerebral blood flow, metabolism, and fluid homeostasis that can be observed in patients with cirrhosis who have no clinical evidence of hepatic encephalopathy; the prevalence is as high as 84% in patients with hepatic cirrhosis. This cirrhosis complication is generally not perceived by physician, and diagnosis can only be made by neuropsychological tests and other especial measurements like evoked potentials and image studies like positron emission tomography. Diagnosis of minimal hepatic encephalopathy may have prognostic and therapeutic implications in cirrhotic patients. The present review pretends to explore the clinic, therapeutic, diagnosis and prognostic aspects of this complication.

  6. [Optic neuritis: diagnosis, treatment and clinical implications].

    Science.gov (United States)

    Steffen, Heimo; Tabibian, David

    2015-12-16

    Optic neuritis is one of the most important causes of visual loss in young and middle aged adults. The prognosis in terms of functional outcome is good. The diagnosis of optic neuritis is a clinical one. Steroids can shorten the recovery time but do not change the long term functional outcome. The MRI is the most important investiga- tion to assess an associated risk of multiple sclerosis. Optic cohe- rence tomography (OCT) contribute additional details to course and functional outcome of optic neuritis. In the future the OCT may additionally contribute to the relationship between optic neuritis and possible associated multiple sclerosis.

  7. Nasopharyngeal bursitis: from embryology to clinical presentation

    Directory of Open Access Journals (Sweden)

    AE El-Shazly

    2010-10-01

    Full Text Available AE El-Shazly, S Barriat, PP LefebvreDepartment of Otorhinolaryngology and Head and Neck Surgery, Liege University Hospital, Liege, BelgiumAbstract: Nasopharyngeal bursitis is a relatively rare syndrome characterized by a collection of symptoms that multidisciplinary specialists should be aware of. Here we present an audit of cases presenting to a rhinology clinic over a two-year period, as well as an overview of the relevant embryology and different clinical presentations of nasopharyngeal bursitis. For 2008–2009, six patients were diagnosed to have nasopharyngeal bursitis, including four males and two females, of mean age 54 years. Two distinct pathologic types were observed, comprising three patients with classical Tornwaldt’s cyst and three with crust-type bursitis. This audit highlights the importance of recognition of the crust-type of nasopharyngeal bursitis and its anatomic and clinical features. A combined endonasal and transoral endoscopic approach is a minimally invasive procedure and an effective method of treating both types of the disease. Our findings are discussed in relation to the embryology of the disorder, with a clinical emphasis on crust-type nasopharyngeal bursitis.Keywords: nasopharyngeal bursitis, crust type, Tornwaldt’s cyst, endoscopic disruption

  8. Clinical presentation and diagnostic difficulties in amoebic liver abscess

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    Kaushal D Suthar

    2014-07-01

    Full Text Available Background Amoebic liver abscess (ALA is a common and major health problem in India. ALA has a highly variable presentation, causing diagnostic difficulties. Early and correct diagnosis of Amoebic liver abscess is essential, because delayed diagnosis and treatment leads to complications which has significantly higher morbidity and mortality than uncomplicated disease. Objective To find out different clinical presentation and its differential diagnosis in order to establish early diagnosis of ALA. Patients and Methods This retrospective, observational study was carried out in the Department of Surgery during February 2010 to May 2013. Inclusion criteria were defined. The data of patients were enrolled according to variables in performa predesigned for this study and analyzed. Results 187 cases of ALA were enrolled with male to female ratio of 2.8:1. Right hypochondrial pain occurred in 69.52%, left hypochondrial pain occurred in 6.41%, pain radiating to tip of right shoulder in 8.02%, fever in 86.64%, co-incident diarrhea in 36.37% and concurrent pulmonary symptoms in 12.84%. The most common signs were tender hepatomegaly in 73.74% and jaundice in 17.65%. 3.20% patients had past history of aspiration of ALA. 23.52% patients had ruptured abscess. 11.12% were due to delayed diagnosis and 1.60% was ruptured despite treatment. Mortality rate was 3.20% amongst patients with ruptured ALA. Diabetes, hypertension, AIDS and alcoholism were commonly associated co morbidities. Right lobe (82.36% is commonly involved than left lobe and single abscess (83.42% was more common than multiple abscess. Diagnosis was missed in 30.48% patients particularly those with atypical presentations. Ultrasonography, Computerized tomography (CT scan with diagnostic aspiration were useful in diagnosing ALA. Conclusion The typical features of ALA, which include pain, fever and tender hepatomegaly, are nonspecific. ALA may be missed because of variable clinical features and

  9. Incidence, prevalence, diagnostic delay, and clinical presentation of female 46,XY disorders of sex development

    DEFF Research Database (Denmark)

    Berglund, Agnethe; Johannsen, Trine H; Krag, Kirstine Stochholm

    2016-01-01

    , prevalence, age at diagnosis, and clinical presentation at diagnosis in 46,XY females. DESIGN AND SETTING: A nationwide study covering all known females with a 46,XY karyotype in Denmark since 1960. The diagnosis of 46,XY disorder of sex development (DSD) was determined by medical record evaluation, data...

  10. Female Urethral Diverticulum: Presentation, Diagnosis, and Predictors of Outcomes After Surgery

    Science.gov (United States)

    El-Nashar, Sherif A.; Singh, Ruchira; Bacon, Melissa M.; Kim-Fine, Shunaha; Occhino, John A.; Gebhart, John B.; Klingele, Christopher J.

    2017-01-01

    Introduction and Hypothesis To report on clinical presentation, diagnosis, and outcomes after treatment of female urethral diverticulum (UD). Methods Using a record linkage system, women with a new diagnosis of UD at Mayo Clinic from January 1, 1980, through December 31, 2011, were identified. The presenting symptoms, clinical characteristics, diagnosis, and management of women presenting with UD were recorded. Outcomes after surgery were assessed using survival analysis. All statistical analyses were 2-sided and P values less than 0.05 were considered significant. Statistical analysis was done using SAS version 9.2 and JMP version 9.0 (SAS Institute Inc.). Results A total of 164 cases were identified. Median age at diagnosis was 46 years (range, 21–83). The most common presenting symptom was recurrent urinary tract infection (98, 59.8%), followed by urinary incontinence (81, 49.4%), dysuria (62, 37.8%), dyspareunia (37, 22.6%), and hematuria (15, 9.1%). Examination revealed vaginal mass in 55 (33.5%) of the women. A significant trend was noted toward an increase in use of both magnetic resonance imaging and computed tomography (P < 0.001) along with a progressive decrease in use of urethrogram (P < 0.001) for diagnosis of UD over the years. Among 114 women who underwent surgical treatment for UD, 14(12.3%) women presented with recurrent UD and the 5-year recurrence rate after surgery for UD was 23.4% (95% confidence interval, 13.9–37.0) and a reoperation rate of 17.0% (95% confidence interval, 8.8–30.2) at 5 years. Conclusions Female UD is a rare and unique condition. Clinical presentation is usually nonspecific, and magnetic resonance imaging is commonly used for confirming the diagnosis. Recurrence is not uncommon, and repeat surgical intervention might be needed. PMID:27636213

  11. Laparoscopic diagnosis of pleural mesothelioma presenting with pseudoachalasia

    Institute of Scientific and Technical Information of China (English)

    Greta Saino; Davide Bona; Marco Nencioni; Barbara Rubino; Luigi Bonavina

    2009-01-01

    Pseudoachalasia due to pleural mesothelioma is an extremely rare condition. A 70-year-old woman presented with progressive dysphagia for solid and liquids and a mild weight loss. A barium swallow study revealed an esophageal dilatation and a smoothly narrowed esophagogastric junction. An esophageal manometry showed absence of peristalsis. Endoscopy demonstrated an extrinsic stenosis of the distal esophagus with negative biopsies. A marked thickening of the distal esophagus and a right-sided pleural effusion were evident at computed tomography (CT) scan, but cytological examination of the thoracic fluid was negative. Endoscopic ultrasound showed the disappearance of the distal esophageal wall stratification and thickening of the esophageal wall. The patient underwent an explorative laparoscopy. Biopsies of the esophageal muscle were consistent with the diagnosis of epithelioid type pleural mesothelioma. An esophageal stent was placed for palliation of dysphagia. The patient died four months after the diagnosis. This is the first reported case of pleural mesothelioma diagnosed through laparoscopy.

  12. An unusual clinical presentation of gingival melanoacanthoma

    Directory of Open Access Journals (Sweden)

    S. P. K. Kennedy Babu

    2013-01-01

    Full Text Available Gingival melanoacanthoma is a rare, benign pigmented lesion characterized clinically by sudden onset and rapid growth of a macular brown black lesion and histologically by acanthosis of superficial epithelium and proliferation of dendritic melanocytes. This article reports a previously undescribed case of pigmented unilateral diffuse gingival enlargement, which on histopathological examination proved to be melanoacanthoma. Intraoral examination revealed pigmented unilateral diffuse gingival enlargement in relation to second and third quadrants buccally, palatally/lingually. Based on these clinical findings, gingivectomy was performed and the excised tissue was sent for biopsy. Microscopic examination revealed acanthotic and parakeratotic surface epithelium with dendritic melanocytes distributed in basal and suprabasal layers of the epithelium. 1 year follow-up recall revealed no recurrence of lesion at the surgical sites. Our patient exhibits an unusual clinical presentation of melanoacanthoma of gingiva. Pigmented gingival overgrowth of recent origin and without any etiologic factors warrants histopathologic examination.

  13. Clinical linguistics: its past, present and future.

    Science.gov (United States)

    Perkins, Michael R

    2011-11-01

    Historiography is a growing area of research within the discipline of linguistics, but so far the subfield of clinical linguistics has received virtually no systematic attention. This article attempts to rectify this by tracing the development of the discipline from its pre-scientific days up to the present time. As part of this, I include the results of a survey of articles published in Clinical Linguistics & Phonetics between 1987 and 2008 which shows, for example, a consistent primary focus on phonetics and phonology at the expense of grammar, semantics and pragmatics. I also trace the gradual broadening of the discipline from its roots in structural linguistics to its current reciprocal relationship with speech and language pathology and a range of other academic disciplines. Finally, I consider the scope of clinical linguistic research in 2011 and assess how the discipline seems likely develop in the future.

  14. Pes anserine bursitis: incidence in symptomatic knees and clinical presentation

    Energy Technology Data Exchange (ETDEWEB)

    Rennie, W.J. [Royal National Orthopaedic Hospital NHS Trust, Department of Radiology, Stanmore, Middlesex (United Kingdom); Saifuddin, A. [Royal National Orthopaedic Hospital NHS Trust, Department of Radiology, Stanmore, Middlesex (United Kingdom); University College London, Institute of Orthopaedics and Musculoskeletal Sciences (United Kingdom)

    2005-07-01

    To determine the prevalence and associated clinical symptoms of pes anserine bursitis in symptomatic adult knees. A retrospective review was performed of the reports of 509 knee MRI studies obtained from July 1998 to June 2004 on 488 patients presenting to an orthopaedic clinic with knee pain suspected to be due to internal derangement. The MRI studies and case histories of all patients reported to have pes anserine bursitis were reviewed. The management of these patients was also noted. The prevalence of pes anserine bursitis as detected on MRI is 2.5%. The commonest clinical presentation was pain along the medial joint line mimicking a medial meniscal tear. We suggest that an accurate diagnosis of pes anserine bursitis on MRI will help prevent unnecessary arthroscopy and possibly initiate early treatment of the condition. Axial imaging is important in these cases to differentiate the bursa from other medial fluid collections. (orig.)

  15. DIFFERENTIAL DIAGNOSIS OF ROSACEA AND SKIN TUBERCULOSIS AS AN EXAMPLE OF A CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    M. L. Aripova

    2014-01-01

    Full Text Available In this paper for a clinical observation of a patient with rosacea, and patients with a flat form of lupus tuberculosis presented a differential clinical diagnosis of tuberculosis of the skin.

  16. Clinical Disease Diagnosis Treatment Data Resources and Its Present Situation in China%我国临床疾病诊疗数据资源条件与现状

    Institute of Scientific and Technical Information of China (English)

    王宇; 刘建超; 刘丽华

    2014-01-01

    我国医院系统在20多年的网络化与数字化建设中积累了丰厚宝贵的诊疗数据资源。但是由于存储分散、在线受限、并受制于基于系统应用的业务分割式管理,所以海量的数据资源长期处于闲置与浪费状态。本文通过对我国临床疾病诊疗数据资源的海量性与过程性描述,分析了医学知识型信息资源状况,为疾病诊疗数据集成模式研究提出了理论需求。%In more than 20 years, hospital system of networking and digitalization construction has accumulated very rich and valuable diagnostic data resources. But due to dispersion, online store, and under control of business division of (based on system application) type management, so the vast amounts of data resources are idle and waste for a long time. Through clinical disease diagnosis and treatment of data resources in China, we discuss the content and process of medical knowledge information resources, form disease clinical research and put forward the theory model of data integration needs.

  17. [Clinical symptomps, diagnosis and therapy of feline allergic dermatitis].

    Science.gov (United States)

    Favrot, C; Rostaher, A; Fischer, N

    2014-07-01

    Allergies are often suspected in cats and they are mainly hypersensitivity reactions against insect bites, food- or environmental allergens. Cats, with non flea induced atopic dermatitis, normally present with one oft he following reaction patterns: miliary dermatitis, eosinophilic dermatitis, selfinduced alopecia or head and neck excoriations. None of these reaction patterns is nevertheless pathognomonic for allergic dermatitis, therefore the diagnosis is based on the one hand on the exclusion of similar diseases on the other hand on the successful response on a certain therapy. Recently a study on the clinical presentation of cats with non flea induced atopic dermatitis was published. In this study certain criteria for diagnosing atopy in cats were proposed. For therapy of allergic cats cyclosporin, glucocorticoids, antihistamines, hypoallergenic diets and allergen specific immunotherapy are used. This article should provide a recent overview on the clinical symptoms, diagnosis and therapy of feline allergic dermatitis.

  18. Clinical guideline for diagnosis and management of melioidosis

    Directory of Open Access Journals (Sweden)

    Inglis Timothy J.J.

    2006-01-01

    Full Text Available Melioidosis is an emerging infection in Brazil and neighbouring South American countries. The wide range of clinical presentations include severe community-acquired pneumonia, septicaemia, central nervous system infection and less severe soft tissue infection. Diagnosis depends heavily on the clinical microbiology laboratory for culture. Burkholderia pseudomallei, the bacterial cause of melioidosis, is easily cultured from blood, sputum and other clinical samples. However, B. pseudomallei can be difficult to identify reliably, and can be confused with closely related bacteria, some of which may be dismissed as insignificant culture contaminants. Serological tests can help to support a diagnosis of melioidosis, but by themselves do not provide a definitive diagnosis. The use of a laboratory discovery pathway can help reduce the risk of missing atypical B. pseudomallei isolates. Recommended antibiotic treatment for severe infection is either intravenous Ceftazidime or Meropenem for several weeks, followed by up to 20 weeks oral treatment with a combination of trimethoprim-sulphamethoxazole and doxycycline. Consistent use of diagnostic microbiology to confirm the diagnosis, and rigorous treatment of severe infection with the correct antibiotics in two stages; acute and eradication, will contribute to a reduction in mortality from melioidosis.

  19. Unsuspected multiples myeloma presenting as bilateral pleural effusion – a cytological diagnosis

    Directory of Open Access Journals (Sweden)

    Dhingra Kajal

    2007-01-01

    Full Text Available Abstract Background Multiple Myeloma presenting as a pleural effusion is extremely rare. It is usually a late complication and is associated with a poor prognosis. Case Presentation A 40-year-old male presented with dyspnea and fever of six months duration. Clinical diagnosis of pulmonary tuberculosis was considered. X-ray chest showed bilateral pleural effusion. Pleural cytology revealed numerous plasma cells, some of which were binucleated and atypical. Cytological differential diagnosis included: Myelomatous effusion and Non-Hodgkin's Lymphoma deposit (Immunoblastic type. Bone marrow biopsy, serum protein electrophoresis and bone scan confirmed the diagnosis of multiple myeloma (Plasmablastic type. Conclusion Myelomatous pleural effusion as an initial presentation although extremely rare, should always be considered in presence of atypical plasma cells irrespective of age.

  20. Clinical manifestations, diagnosis, and treatment of neurocysticercosis.

    Science.gov (United States)

    Sotelo, Julio

    2011-12-01

    Neurocysticercosis (NCC) is the most frequent parasitic disease of the human brain. Modern imaging studies, CT and MRI, have defined the diagnosis and characterization of the disease. Through these studies the therapeutic approach for each case may be individualized with the aid of antihelmintics, steroids, symptomatic medicines, or surgery. The use of one or various therapeutic measures largely depends on the peculiar combination of number, location, and biological stage of lesions as well as the degree of inflammatory response to the parasites. Although there is not a typical clinical picture of NCC, epilepsy is the most frequent manifestation of parenchymal NCC, whereas hydrocephalus is the most frequent manifestation of meningeal NCC. Eradication of cysticercosis is an attainable goal by public education and sanitary improvement in endemic areas.

  1. Clinical findings in 16 patients with tomographic diagnosis of schizencephaly

    Energy Technology Data Exchange (ETDEWEB)

    Rodrigues, Maria do Carmo de Souza [Universidade Federal do Espirito Santo, Vitoria, ES (Brazil). Hospital Universitario Cassiano Antonio Moraes]. E-mail: rodriguesmcs@yahoo.com.br; Monteiro, Alexandra Maria Vieira [Universidade do Estado do Rio de Janeiro, RJ (Brazil). Faculdade de Ciencias Medicas; Llerena Junior, Juan Clinton [Fundacao Oswaldo Cruz, Rio de Janeiro, RJ (Brazil). Instituto Fernandes Figueira. Centro de Genetica Medica; Fernandes, Alexandre Ribeiro [Universidade Gama Filho, Rio de Janeiro, RJ (Brazil). Dept. de Pediatria

    2006-09-15

    Objective: to establish a correlation between clinical features in a group of children with tomographic diagnosis of schizencephaly and clefts extent and localization. Materials and methods: retrospective study of dossiers from the archives of Neurology and Medical Genetics Services at Instituto Fernandes Figueira/FIOCRUZ and Hospital Municipal Jesus, Rio de Janeiro, RJ, Brazil, in the period between 2000 and 2003. The study included 16 patients, nine female and seven male, with tomographic diagnosis of schizencephaly investigated for clinical findings, psychomotor development, motor/cognitive deficits and epilepsy. Results: predominance of bilateral clefts in 10:16 patients, open-lip schizencephaly type in 23:27 patients, and small lips in 11:27 patients. As regards anomalies associated with schizencephaly, pellucid septum absence was the most frequent one (10:16 patients). As regards clinical findings, 15 patients presented with developmental delay and motor deficit, six patients with cognitive deficit and ten with epilepsy. In three patients, we observed discordant clinical findings and cleft sizes, although the clefts were small, the clinical features severity was high because of other cerebral anomalies. Conclusion: the clinical features of schizencephaly are related to the size of the clefts, regardless laterality, presenting higher severity when associated with other cerebral anomalies. (author)

  2. Varied presentations of Sheehan′s syndrome at diagnosis: A review of 18 patients

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    Delmalya Sanyal

    2012-01-01

    Full Text Available Introduction: Sheehan′s syndrome (SS occurs due to ischemic pituitary necrosis as a result of severe postpartum hemorrhage (PPH. Aims and Objectives: The aim of the present study was to review the presenting features of SS at diagnosis. Materials and Methods: We retrospectively reviewed 18 cases of SS at diagnosis. Presenting clinical features, laboratory data, pituitary hormone deficiencies, and magnetic resonance imaging (MRI of the sella were analyzed. Results: Age ranged from 28-71 years with a mean age of 47 ± 14.44 years. Time to diagnosis of SS was 6-33 years with a mean of 15.35 ± 6.74 years. Four (22.2% patients were referred from emergency for hyponatremia, one each (5.6% for hypotension, hypoglycemia, and vomiting. Three (16.7% patients presented with asthenia and weight loss, two (11.1% with slightly raised thyroid stimulating hormone (TSH. Only six (33.3% presented with classic features of amenorrhea. None presented with isolated lactational failure or apoplexy after PPH. Seventeen (94.4% patients had lactational failure; thirteen (72.2% did not menstruate following last delivery. Lactotroph and gonadotroph failure were present in all at diagnosis but corticotrophs preservation was documented in three (16.7% and thyrotroph in two (11.1% patients. Twelve (66.7% patients had empty sella while six (33.3% had partial empty sella on MRI. Conclusion: SS has variable features at diagnosis and may present to different specialties. The clinical features of hypopituitarism are often subtle, leading to delay in diagnosis. History of PPH, lactational failure and cessation of menses are important clues. Thyrotroph, corticotroph axis may be preserved in some SS patients.

  3. Clinical presentation and staging of Hodgkin lymphoma

    DEFF Research Database (Denmark)

    Gallamini, Andrea; Hutchings, Martin; Ramadan, Safaa

    2016-01-01

    . The main body of the review will be dedicated to the recently published guidelines for lymphoma staging (including HL) agreed by the experts during the 12th International Congress for Malignant Lymphoma in Lugano. The recommendations of the panel on how to integrate flurodeoxyglucose positron emission......, sometimes HL is a subtle disease, difficult to diagnose for the paucity of symptoms, the absence of physical findings, or for concomitant immunologic disorders: a compete overview of the common and rare patterns of HL clinical presentation will be also offered. The future perspective of PET scan use...

  4. [Juvenil idiopathic arthritis. Part 1: diagnosis, pathogenesis and clinical manifestations].

    Science.gov (United States)

    Espada, Graciela

    2009-10-01

    Juvenile idiopathic arthritis is not a single disease and constitutes an heterogeneous group of illnesses or inflammatory disorders. This new nomenclature encompasses different disease categories, each of which has different presentation, clinical signs, symptoms, and outcome. The cause of the disease is still unknown but both environmental and genetic factors seem to be related to its pathogenesis. Is the most common chronic rheumatic disease in children and an important cause of short-term and long-term disability. In this article, clinical manifestation, new classification and approach to diagnosis are reviewed.

  5. Fine needle aspiration cytology as an aid to diagnosis, categorization and treatment when pure neuritic leprosy presents as nerve abscess

    Directory of Open Access Journals (Sweden)

    C M Kiran

    2013-01-01

    Conclusions: The simple and minimally invasive FNAC procedure allows diagnosis and a reasonably accurate categorization of PNL presenting as nerve abscess and therefore, highly useful in its clinical management.

  6. Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation

    Directory of Open Access Journals (Sweden)

    Humberto Perera Navarro

    2007-05-01

    Full Text Available The Duchenne muscular dystrophy is one of the most frequent hereditary myopathies that exist. It is characterized by degeneration of the muscle skeletal fibers which produce handicap in the first decade of life bringing about death due to cardiac or respiratory failure. The responsible gene of the disease is known as DMD and it is located in the X chromosome shorter arm. A family history is presented in which the pregnant woman who is the sick patient’s sister asks for a prenatal diagnosis. An indirect molecular study was performed with the STR-50 polymorphic marker. After the analysis of the results in which the lab methodology was applied, the fetus was found to be sick and the family decided to interrupt the pregnancy.

  7. Anaplastic myeloma presenting as mandibular swelling: Diagnosis by cytology

    Directory of Open Access Journals (Sweden)

    K Subitha

    2014-01-01

    Full Text Available Multiple myeloma is a disease resulting from clonal proliferation of plasma cells. A disease of the elderly, jaw lesions are seen in 14% of patients affected with myeloma. Rarely the oral and maxillofacial lesions can be the first manifestation of the disease. We report the case of a 75-year-old man who presented with mandibular swelling. Fine-needle aspiration cytology was done from the swelling and smears were suggestive of anaplastic myeloma, which is a rare and aggressive variant of myeloma. The diagnosis of a plasmacytoma was confirmed by biopsy. Further workup of the patient revealed osteolytic lesions in skull, M band in electrophoresis and evidence of renal failure. Peripheral smear and bone marrow findings were also consistent with myeloma.

  8. The role of fluorescence diagnosis in clinical practice

    Directory of Open Access Journals (Sweden)

    Sieroń A

    2013-07-01

    Full Text Available Aleksander Sieroń,1 Karolina Sieroń-Stołtny,1 Aleksandra Kawczyk-Krupka,1 Wojciech Latos,1 Sebastian Kwiatek,1 Dariusz Straszak,1 Andrzej M Bugaj1,2 1Clinical Department of Internal Diseases, Angiology and Physical Medicine, Center for Laser Diagnostics and Therapy, Silesian Medical University, Bytom, 2College of Health, Beauty Care and Education, Poznan, Poland Abstract: Fluorescence diagnosis is a fast, easy, noninvasive, selective, and sensitive diagnostic tool for estimation of treatment results in oncology. In clinical practice the use of photodynamic diagnosis is focused on five targets: detection for prevention of malignant transformation precancerous changes, detection of neoplasmatic tissue in the early stages for fast removal, prevention of expansion and detection of recurrence of the cancer, monitoring therapy, and the possibility of excluding neoplasmatic disease. In this article, selected applications of fluorescence diagnosis at the Center for Laser Diagnostics and Therapy in Bytom, Poland, for each of these targets are presented. Keywords: autofluorescence, cancer, fluorescence, imaging, photodynamic diagnosis, photodynamic therapy 

  9. Present Status of Radiotherapy in Clinical Practice

    Science.gov (United States)

    Duehmke, Eckhart

    Aims of radiation oncology are cure from malignant diseases and - at the same time preservation of anatomy (e.g. female breast, uterus, prostate) and organ functions (e.g. brain, eye, voice, sphincter ani). At present, methods and results of clinical radiotherapy (RT) are based on experiences with natural history and radiobiology of malignant tumors in properly defined situations as well as on technical developments since World War II in geometrical and biological treatment planning in teletherapy and brachytherapy. Radiobiological research revealed tolerance limits of healthy tissues to be respected, effective total treatment doses of high cure probability depending on histology and tumor volume, and - more recently - altered fractionation schemes to be adapted to specific growth fractions and intrinsic radiosensitivities of clonogenic tumor cells. In addition, Biological Response Modifiers (BRM), such as cis-platinum, oxygen and hyperthermia may steepen cell survival curves of hypoxic tumor cells, others - such as tetrachiordekaoxid (TCDO) - may enhance repair of normal tissues. Computer assisted techniques in geometrical RT-planning based on individual healthy and pathologic anatomy (CT, MRT) provide high precision RT for well defined brain lesions by using dedicated linear accelerators (Stereotaxy). CT-based individual tissue compensators help with homogenization of distorted dose distributions in magna field irradiation for malignant lymphomas and with total body irradiation (TBI) before allogeneic bone marrow transplantation, e.g. for leukemia. RT with fast neutrons, Boron Neutron Capture Therapy (BNCT), RT with protons and heavy ions need to be tested in randomized trials before implementation into clinical routine.

  10. Etiology, diagnosis, and clinical management of vulvodynia

    Directory of Open Access Journals (Sweden)

    Sadownik LA

    2014-05-01

    Full Text Available Leslie A Sadownik University of British Columbia, Department of Obstetrics and Gynecology, Vancouver, BC, Canada Abstract: Chronic vulvar pain or discomfort for which no obvious etiology can be found, ie, vulvodynia, can affect up to 16% of women. It may affect girls and women across all age groups and ethnicities. Vulvodynia is a significant burden to society, the health care system, the affected woman, and her intimate partner. The etiology is multifactorial and may involve local injury or inflammation, and peripheral and or central sensitization of the nervous system. An approach to the diagnosis and management of a woman presenting with chronic vulvar pain should address the biological, psychological, and social/interpersonal factors that contribute to her illness. The gynecologist has a key role in excluding other causes for vulvar pain, screening for psychosexual and pelvic floor dysfunction, and collaborating with other health care providers to manage a woman's pain. An important component of treatment is patient education regarding the pathogenesis of the pain and the negative impact of experiencing pain on a woman's overall quality of life. An individualized, holistic, and often multidisciplinary approach is needed to effectively manage the woman's pain and pain-related distress. Keywords: vulvodynia, diagnosis, treatment, etiology, sexual pain disorder, dyspareunia, vestibulodynia, assessment, treatment, multidisciplinary

  11. Progranulin gene mutation with an unusual clinical and neuropathologic presentation.

    Science.gov (United States)

    Wider, Christian; Uitti, Ryan J; Wszolek, Zbigniew K; Fang, John Y; Josephs, Keith A; Baker, Matthew C; Rademakers, Rosa; Hutton, Michael L; Dickson, Dennis W

    2008-06-15

    Progranulin gene (PGRN) mutations cause frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U). Patients usually present with a frontotemporal dementia syndrome and have prominent atrophy and neuronal loss in frontal and temporal cortices and the striatum, with neuronal intranuclear and cytoplasmic inclusions. Clinical, neuropathological, and genetic studies are reported on an individual with PGRN mutation and her family members. We describe a patient with a PGRN c.26C>A mutation who presented with progressive stuttering dysarthria, oculomotor abnormalities, choreic buccolingual movements, and mild parkinsonism. Two other family members were affected, one with a behavioral variant frontotemporal dementia syndrome, the other with a diagnosis of probable Alzheimer's disease. At autopsy there was no neuronal loss in the cortex or medial temporal lobe structures, but there was striatal gliosis. Immunohistochemistry for ubiquitin and TDP-43 revealed neuronal cytoplasmic and intranuclear inclusions as well as neurites. This study further expands the clinical and pathological spectrum of PGRN mutations, and suggests the diagnosis could be missed in some individuals with atypical presentations.

  12. Multibacillary leprosy: erythema as the only clinical presentation

    Institute of Scientific and Technical Information of China (English)

    WEN Peng-fei; WANG Lin

    2012-01-01

    Leprosy is a chronic granulomatous infection caused by Mycobacterium leprae,which primarily affects the skin and peripheral nerves.In this article,we present a 45-year-old man and a 39-year-old women who suffered fróm asymptomatic irregular erythemas on their trunk and extremities.Since both patients denied the history of exposure to leprosy patients and were absent clinical signs of superficial sensation dysfunction and enlarged peripheral nerves,they were diagnosed of mycosis fungoides and livedo reticularis clinically.Nevertheless the biopsies of erythemas showed perineural and periadnexal foamy-cell granulomas in the dermis and Fite staining revealed a large number of acid-fast bacilli.A diagnosis of multibacillary leprosy was made finally.These cases revealed that since leprosy is still epidemic in some remote area in China and in other developing countries and its clinical manifestations may be very weird sometimes,the dermatologists should be alert of it and skin biopsy could confirm the diagnosis.

  13. Narcolepsy: etiology, clinical features, diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Jolanta B. Zawilska

    2012-10-01

    Full Text Available [u][/u] Narcolepsy is a chronic hypersomnia characterized by excessive daytime sleepiness (EDS and manifestations of disrupted rapid eye movement sleep stage (cataplexy, sleep paralysis, and hypnagogic/hypnopompic hallucinations. Mechanisms underlying narcolepsy are not fully understood. Experimental data indicate that the disease is caused by a loss of hypocretin neurons in the hypothalamus, likely due to an autoimmune process triggered by environmental factors in susceptible individuals. Most patients with narcolepsy and cataplexy have very low hypocretin-1 levels in the cerebrospinal fluid. An appropriate clinical history, polysomnogram, and multiple sleep latency test are necessary for diagnosis of the disease. Additionally, two biological markers, i.e., cerebrospinal fluid hypocretin-1 levels and expression of the DQB1*0602 gene, are used. The treatment of narcolepsy is aimed at the different symptoms that the patient manifests. Excessive daytime sleepiness is treated with psychostimulants (amphetamine-like, modafinil and armodafinil. Cataplexy is treated with sodium oxybate (GHB, tricyclic antidepressants, or selective serotonin and noradrenaline reuptake inhibitors. Sleep paralysis, hallucinations, and fragmented sleep may be treated with sodium oxybate. Patients with narcolepsy should follow proper sleep hygiene and avoid strong emotions.

  14. Diagnosis of human fascioliasis by stool and blood techniques: update for the present global scenario.

    Science.gov (United States)

    Mas-Coma, S; Bargues, M D; Valero, M A

    2014-12-01

    Before the 1990s, human fascioliasis diagnosis focused on individual patients in hospitals or health centres. Case reports were mainly from developed countries and usually concerned isolated human infection in animal endemic areas. From the mid-1990s onwards, due to the progressive description of human endemic areas and human infection reports in developing countries, but also new knowledge on clinical manifestations and pathology, new situations, hitherto neglected, entered in the global scenario. Human fascioliasis has proved to be pronouncedly more heterogeneous than previously thought, including different transmission patterns and epidemiological situations. Stool and blood techniques, the main tools for diagnosis in humans, have been improved for both patient and survey diagnosis. Present availabilities for human diagnosis are reviewed focusing on advantages and weaknesses, sample management, egg differentiation, qualitative and quantitative diagnosis, antibody and antigen detection, post-treatment monitoring and post-control surveillance. Main conclusions refer to the pronounced difficulties of diagnosing fascioliasis in humans given the different infection phases and parasite migration capacities, clinical heterogeneity, immunological complexity, different epidemiological situations and transmission patterns, the lack of a diagnostic technique covering all needs and situations, and the advisability for a combined use of different techniques, at least including a stool technique and a blood technique.

  15. Clinical presentation and management of congenital ptosis

    Directory of Open Access Journals (Sweden)

    Marenco M

    2017-02-01

    Full Text Available Marco Marenco,1,* Ilaria Macchi,2,* Iacopo Macchi,3 Emilio Galassi,4 Mina Massaro-Giordano,5 Alessandro Lambiase1 1Department of Sense Organs, University of Rome “Sapienza”, 2Department of Ophthalmology, Campus Bio-Medico University of Rome, Rome, 3Department of Ophthalmology, University of Catania, Catania, 4Ophthalmic Clinic, Department of Ophthalmology, University of L’Aquila, L’Aquila, Italy; 5Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA *These authors contributed equally to this work Abstract: Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. Keywords: ptosis, extraocular muscle development, neurologic dysfunction, surgical approach

  16. The balance beam metaphor: a perspective on clinical diagnosis.

    Science.gov (United States)

    Hamm, Robert M; Beasley, William Howard

    2014-10-01

    Understanding the impact of clinical findings in discriminating between possible causes of a patient's presentation is essential in clinical judgment. A balance beam is a natural physical analogue that can accurately represent the combination of several pieces of evidence with varying ability to discriminate between disease hypotheses. Calculation of Bayes' theorem using log(posterior odds) as a function of log(prior odds) and the logarithms of the evidence's likelihood ratios maps onto the physical forces affecting objects placed on a balance beam. We describe the rules governing the functioning of tokens representing clinical findings in the comparison of 2 competing diseases. The likelihood ratios corresponding to positive (LR+) or negative (LR-) observations for each symptom determine the lateral position at which the symptom's token is placed on the beam, using a weight if the finding is present and a helium balloon if it is absent. We discuss how a balance beam could represent concepts of dynamic specificity (due to changes in competitor diseases' probabilities) and dynamic sensitivity (due to class-conditional independence). Utility-based thresholds for acting on a diagnosis could be represented by moving the balance beam's fulcrum. It is suggested that a balance beam can be a useful aid for students learning clinical diagnosis, allowing them to build on existing intuitive understanding to develop an appreciation of how evidence combines to influence degree of belief. The balance beam could also facilitate exploration of the potential impact of available questions or investigations.

  17. Sheehan's syndrome presenting as psychosis: a rare clinical presentation.

    Science.gov (United States)

    Shoib, Sheikh; Dar, Mohamand Maqbool; Arif, Tasleem; Bashir, Haamid; Bhat, Mohammad Hayat; Ahmed, Javid

    2013-02-01

    Sheehan's syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan's syndrome is often diagnosed late as it evolves slowly (2,3). Reports of psychoses in patients with Sheehan's syndrome are rare. Herein, a case report of psychosis in a 31 year old woman who developed Sheehan's syndrome preceded by postpartum haemorrhage is presented. Treatment with thyroxine and glucocorticoids resulted in complete remission after attaining euthyroid and eucortisolemic state.

  18. [Neonatal Dengue. Presentation of clinical cases].

    Science.gov (United States)

    Romero-Santacruz, Edith; Lira-Canul, Janeth Jaqueline; Pacheco-Tugores, Fredy; Palma-Chan, Adolfo Gonzalo

    2015-05-01

    Dengue is an infectious disease caused by a flavivirus, with four serotypes, transmitted by the mosquito Aedes aegypti. In Mexico it is a public health problem, especially in the region of central and southeast of the country. The disease can be asymptomatic or present serious forms and even death. It is confirmed by detection of the NS1 Antigen; IgM antibodies, polymerase chain reaction and virus isolation. The vertical transmission to de newborn has been little studied. 7 cases in neonates from November to December 2011 are reported. All patients were male, obtained by caesarean section between 34 and 40 weeks of gestation, whose mothers were enrolled with fever and symptoms associated with dengue disease and serology positive for dengue. Six with positive AgNS1 and one positive IgM; one mother died. All the newborns had positive serology for dengue, 4 with positive AgNS1 and 3 positive IgM. The clinical features of the newborn ranged from asymptomatic to one serious dengue fever, shock and hemorrhage. The symptomatic 6 attended with thrombocytopenia, changes in temperature and unspecific disturbance. The severity of mothers conditioned disrepair product at birth, but not with subsequent gravity of the new born. Vertical trasmission of dengue should be suspected in risk areas, to maintain vigilance and to give early treatment. Also is neccesary promote the realization of specific diagnostic and therapeutic guidelines to the neonatal period.

  19. Clinical presentation and management of congenital ptosis

    Science.gov (United States)

    Marenco, Marco; Macchi, Ilaria; Macchi, Iacopo; Galassi, Emilio; Massaro-Giordano, Mina; Lambiase, Alessandro

    2017-01-01

    Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. PMID:28280295

  20. Multiple Sclerosis: two clinical presentations, a single disease!

    Directory of Open Access Journals (Sweden)

    Ana Margarida Ferreira da Silva

    2014-09-01

    Full Text Available Objective: this case report aims to demonstrate the diversity of clinical presentations, the symptoms evolution and the role of the primary care physician in the diagnosis and management of patients with multiple sclerosis, and their families. Case descriptions: two women, 31 and 28 years old, Caucasian, inserted within nuclear families (phases II and IV of the Duvall’ cycle, respectively belonging to the middle class of Graffar. The first one starts an insidious symptom of paraesthesia of the hands with improvement in 2 months. Within a year, she presents with difficulty raising the eyelids and marked imbalance. The second one presents sudden loss of visual acuity on the right, having been diagnosed with optic neuritis. Both were diagnosed with multiple sclerosis. Conclusion: multiple sclerosis is a chronic inflammatory, degenerative and demyelinating disease of the central nervous system that manifests heterogeneously. It is important for the family doctor to know how to deal with diagnostic uncertainties.

  1. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

    Science.gov (United States)

    Pacenza, Néstor; Pasqualini, Titania; Gottlieb, Silvia; Knoblovits, Pablo; Costanzo, Pablo R.; Stewart Usher, Jorge; Rey, Rodolfo A.; Martínez, María P.; Aszpis, Sergio

    2012-01-01

    The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases. PMID:22291701

  2. Clinical Presentation of Klinefelter's Syndrome: Differences According to Age

    Directory of Open Access Journals (Sweden)

    Néstor Pacenza

    2012-01-01

    Full Text Available The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%. Most of the patients (83.7% showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. Half of the patients younger than 18 years presented mild neurodevelopmental disorders. The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. FSH, LH, AMH, and inhibin B levels were normal in prepubertal patients and became abnormal from midpuberty. Most adults were referred for small testes, infertility, and gynecomastia; 43.6% had sexual dysfunction. Testosterone levels were low in 45%. Mean stature was above the 50th percentile, and 62.5% had BMI ≥25.0 kg/m2. In conclusion, the diagnosis of Klinefelter syndrome seems to be made earlier nowadays probably because pediatricians are more aware that boys and adolescents with neuro-developmental disorders and cryptorchidism are at increased risk. The increasing use of prenatal diagnosis has also decreased the mean age at diagnosis and allowed to get insight into the evolution of previously undiagnosed cases, which probably represent the mildest forms. In adults average height and weight are slightly higher than those in the normal population. Bone mineral density is mildly affected, more at the spine than at the femoral neck level, in less than half of cases.

  3. Fibromyalgia diagnosis: a review of the past, present and future.

    Science.gov (United States)

    Wang, Sheng-Min; Han, Changsu; Lee, Soo-Jung; Patkar, Ashwin A; Masand, Prakash S; Pae, Chi-Un

    2015-06-01

    Diagnosis of fibromyalgia (FM) remains controversial even though diverse diagnostic criteria have been developed. This review looks at the history, evolution of diagnostic criteria, endless controversy, recent trends and future perspectives regarding FM diagnosis. Some have criticized that diagnosis of FM could lead to medicalization, whereas others have raised concerns of under-diagnosing FM. With the evolution of diagnosis criteria from American College of Rheumatology 1990 to modified American College of Rheumatology 2010, diagnosis of FM has become simpler. The recent trend of applying patient-reported questionnaires has also increased a simpler FM diagnosis. Reliable biomarkers will not be available for the foreseeable future, so diverse assessment tools will have to be used more pro-actively. After initial diagnosis, multiple and comprehensive assessment measures are needed during the course of treatment in order to better understand type and severity of FM symptoms. These, in turn, could help classify FM based on symptom domain, symptom severity, and comorbidity which would enable more personalized treatment.

  4. Parasomnias: Diagnosis, Classification and Clinical Features

    Directory of Open Access Journals (Sweden)

    Fatma Ozlem Orhan

    2009-10-01

    Full Text Available Parasomnias, as described in the recent second edition of the International Classification of Sleep Disorders, are “undesirable physical events or experiences” occurring during sleep transition, during arousal from sleep, or within the sleep period. These events encompass abnormal sleep related movements, behaviors, emotions, perceptions, dreaming, and autonomic nervous system functioning. Parasomnias are classified as: 1 disorders of arousal (from non-rapid eye movement, or NREM, sleep; 2 parasomnias usually associated with REM (rapid eye movement sleep; and 3 other parasomnias. This sleep disorders in childhood are common, and often more frequent than in adults. Clinicians should be aware that many pediatric parasomnias have benign and self-limited nature. Most of the parasomnias may not persist into late childhood or adolescence. Parasomnias in adults often differ in type from childhood parasomnias and may portend significant psychiatric disturbances or neurodegenerative disorders. A reliable diagnosis can often be made from a detailed history from the patient and, if possible, the parents or bed partner. Detailed overnight investigations of parasomnias are usually not required. The non-REM parasomnias are more common in community although REM parasomnias are more likely to be seen in general neurological practice. Sleep related eating disorder, sleep related dissociative disorders and sleep related sexual behavior and sleep related violence are novel and rarely reported sleep disorders. REM sleep behavior disorder is common and should be sought in all neurodegenerative diseases. They are included among clinical disorders due to the resulting injuries, and adverse health and psychosocial effects, which may affect the bed partner as well as the patient. Finally, parasomnias are common disturbances of sleep that may significantly affect the patient’s quality of life and that of the bed partner. Therefore, appropriate diagnostic and

  5. Clinical Pharmacology & Therapeutics: Past, Present, and Future.

    Science.gov (United States)

    Waldman, S A; Terzic, A

    2017-03-01

    Clinical Pharmacology & Therapeutics (CPT), the definitive and timely source for advances in human therapeutics, transcends the drug discovery, development, regulation, and utilization continuum to catalyze, evolve, and disseminate discipline-transformative knowledge. Prioritized themes and multidisciplinary content drive the science and practice of clinical pharmacology, offering a trusted point of reference. An authoritative herald across global communities, CPT is a timeless information vehicle at the vanguard of discovery, translation, and application ushering therapeutic innovation into modern healthcare.

  6. Rosacea fulminans: unusual clinical presentation of rosacea*

    Science.gov (United States)

    Coutinho, Jessica Castiel; Westphal, Danielle Cristine; Lobato, Laís Cruz; Schettini, Antônio Pedro Mendes; Santos, Mônica

    2016-01-01

    Rosacea fulminans or pyoderma faciale is a rare cutaneous disorder that usually affects women usually between the ages of 15-46. The disease is characterized by sudden onset of papules, pustules, cysts, and painful coalescing nodules with red-cyanotic centrofacial erythema. Although its etiology remains unknown, hormonal, immunological, and vascular factors have been reported. Early diagnosis and prompt treatment should minimize unsightly scars. We report a case of a 33-year-old female patient treated with traditional doses of doxycycline, with improvement of the lesions and regression of the condition in two months. PMID:28300926

  7. Left-sided gallbladder: Its clinical significance and imaging presentations

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    AIM: To assess the importance of preoperative diagnosis and presentation of left-sided gallbladder using ultrasound (US), CT and angiography.METHODS: Retrospective review of 1482 patients who underwent enhanced CT scanning was performed. Left-sided gallbladder was diagnosed if a right-sided ligamentum teres was present. The image presentations on US, CT and angiography were also reviewed.RESULTS: Left-sided gallbladder was diagnosed in nine patients. The associated abnormalities on CT imaging included portal vein anomalies, absence of umbilical portion of the portal vein in the left lobe of the liver,club-shaped portal vein in the right lobe of the liver, and difficulty in identifying segment Ⅳ. Angiography in six of nine patients demonstrated abnormal portal venous system (trifurcation type in four of six patients). The main hepatic arteries followed the portal veins in all six patients. The segment Ⅳ artery was identified in four of six patients using angiography, although segment Ⅳ was difficult to define on CT imaging. Hepatectomy was performed in three patients with concomitant liver tumor and the diagnosis of left-sided gallbladder was confirmed intraoperatively.CONCLUSION: Left-sided gallbladder is an important clinical entity in hepatectomy due to its associated portal venous and biliary anomalies. It should be considered in US, CT and angiography images that demonstrate no definite segment IV, absence of umbilical portion of the portal vein in the left lobe, and club-shaped right anterior portal vein.

  8. Clinical presentation and etiology of osteomalacia/rickets in adolescents

    Directory of Open Access Journals (Sweden)

    Mohammad A Hazzazi

    2013-01-01

    Full Text Available This study was conducted to determine the causes and clinical presentations of osteomalacia/rickets in adolescents seen at the King Abdulaziz Medical City (KAMC, Riyadh. Because osteomalacia and rickets constitute the same entity, the term osteomalacia will be used for future discussion. A retrospective file review was performed on all adolescents (10-16 years with osteomalacia, defined as alkaline phosphatase levels ≥500 IU/L, seen at the KAMC, Riyadh, from 2000 to 2006. We recorded the signs and symptoms, dietary history and amount of sun exposure at presentation. A total of 135 patients were found to fit the inclusion criteria for the study. Of them, 57 had nutritional causes, with a mean age of 13.2 years, and included 32 females. At diagnosis, 22 patients were found to have bone pain, 10 had bone deformities, eight had pathological fractures and 17 were asymptomatic. Secondary causes for osteomalacia were found in 59 cases who had liver and renal disease and in 19 other patients who were on medications such as anticonvulsants and steroids, which are known to cause osteomalacia. Our study indicates that osteomalacia is a significant health burden that deserves special attention. Bone pain is the most common presenting symptom at diagnosis. Because of the high risk of osteomalacia associated with the use of anticonvulsants and steroids, it is advised that all patients on these drugs should be routinely screened for secondary osteomalacia.

  9. [Sarcoidosis: etiology, pathogenesis, epidemiology, risk factors, clinical presentation].

    Science.gov (United States)

    Éksarenko, O V; Kharlap, S I; Safonova, T N

    2012-01-01

    Sarcoidosis is a chronic idiopathic multisystem granulomatous inflammatory disease of unknown etiology. Prevalence of this condition is approximately 3-5: 100 000 with the highest incidence at the age of 25-40 years old and no gender predomination. Early morbidity, disability and severe prognosis worsen patient's condition and make them socially limited. In some cases ocular involvement and vision loss aggravate general condition of the patients. Ocular involvement in sarcoidosis occurs in 10-75% patients. At the same time some data confirm the fact that in 7% of patients ocular damage is the presenting sign making them come to an ophthalmologist whereas orbital involvement may present in systemic disease only. Unclear etiology and clinical similarity with other conditions cause difficulties in early diagnosis and monitoring of patients with sarcoidosis.

  10. Ischemic colitis:Clinical practice in diagnosis and treatment

    Institute of Scientific and Technical Information of China (English)

    Angeliki Theodoropoulou; Ioannis E Koutroubakis

    2008-01-01

    Ischemic colitis is the most common form of ischemic injury of the gastrointestinal tract and can present either as an occlusive or a non-occlusive form.It accounts for 1 in 1000 hospitalizations but its incidence is underestimated because it often has a mild and transient nature.The etiology of ischemic colitis is multifactorial and the clinical presentation variable.The diagnosis is based on a combination of clinical suspicion,radiographic,endoscopic and histological findings.Therapy and outcome depends on the severity of the disease.Most cases of the non-gangrenous form are transient and resolve spontaneously without complications.On the other hand,high morbidity and mortality and urgent operative intervention are the hallmarks of gangrenous ischemic colitis.

  11. A rare clinical presentation of sarcoidosis; gingivitis.

    Science.gov (United States)

    Güzel, Aygül; Köksal, Nurhan; Aydın, Davut; Aslan, Kerim; Gören, Fikret; Karagöz, Filiz

    2013-10-01

    Gingivitis due to sarcoidosis is a relatively rare condition. Gingivitis or isolated gingival involvement may be the first sign of systemic sarcoidosis. We report the case of a 37 year-old woman with isolated gingivitis due to sarcoidosis confirmed by biopsy. Following treatment with a systemic corticosteroid (prednisolone 40 mg/day), all clinical and radiologic findings were completely improved. In cases of chronic and intractable gingivitis, systemic sarcoidosis should be suspected. It should be confirmed with a biopsy, and the patient should be referred to a chest disease clinic to exclude other organ involvement.

  12. School Refusal: Clinical Features, Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    Kayhan Bahali

    2010-12-01

    Full Text Available Children regularly and voluntarily go to school in order to fulfill the expectations of society from them to continue their education or schooling. School continuation has been made compulsory by laws. Nonetheless, contrary to popular belief, for some children it is distressing to go to school. These children have difficulty continuing school and/or refuse to go to school. Today school refusal is defined as a child’s inability to continue school for reasons, such as anxiety and depression. The prevalence of school refusal has been reported to be approximately 1% in school-age children and 5% in child psychiatry samples. The prevalence of school refusal is similar among boys and girls. School refusal can occur at any time throughout the child’s academic life and at all socio-economic levels. School refusal is considered a symptom rather than a clinical diagnosis and can manifest itself as a sign of many psychiatric disorders, with anxiety disorders predominant. Separation anxiety disorder, generalized anxiety disorder, social phobia, specific phobia, and adjustment disorder with anxiety symptoms are the most common disorders co-occurring with school refusal. While separation anxiety disorder is associated with school refusal in younger children, other anxiety disorders, especially phobias, are associated with school refusal in adolescents. Children who have parents with psychiatric disorders have a higher incidence of school refusal, and psychiatric disorders are more frequently seen in adult relatives of children with school refusal, which supports a significant role of genetic and environmental factors in th etiology of school refusal. School refusal is a emergency state for child mental health. As it leads to detrimental effects in the short term and the long term, it should be regarded as a serious problem. The long-lasting follow-up studies of school refusing children have revealed that these children have a higher incidence of

  13. Huntington's disease - clinical signs, symptoms, presymptomatic diagnosis, and diagnosis.

    Science.gov (United States)

    Shannon, Kathleen M

    2011-01-01

    HD is a complex illness, with a broad clinical picture that begins years before clear motor onset and evolves over decades to a terminal state of extreme disability. It challenges the resources of families and communities and the skills of medical and ancillary health care providers. A broader understanding of the phenotypes, progression, and genetic basis of HD may elevate the standard of care for these deserving patients.

  14. Unusual clinical and histopathological presentation of facial tuberculosis

    Directory of Open Access Journals (Sweden)

    Chopra Adarsh

    1995-01-01

    Full Text Available Atypical facial lupus vulgaris is described in two cases. The first case resembled sarcoidosis clinically and histologically but responded well to ATT. The second case whose clinical diagnosis of lupus vulgaris was confirmed therapeutically had an atypical histology.

  15. Menopausal syndrome: clinical presentation and management

    Directory of Open Access Journals (Sweden)

    Sunil Somnath Patil

    2016-03-01

    Conclusions: There is need of setting menopausal clinics and centres to help women with symptoms and signs of estrogen deprivation. Counseling and education are main treatment modalities. [Int J Reprod Contracept Obstet Gynecol 2016; 5(3.000: 757-761

  16. TARDIVE DYSKINESIA : CLINICAL PRESENTATION AND TREATMENT

    NARCIS (Netherlands)

    van Harten, Peter N.; Tenback, Diederik E.; Brotchie, J; Bezard, E; Jenner, P

    2011-01-01

    Tardive dyskinesia (TD) is a common and potentially irreversible side effect of dopamine blocking agents, most often antipsychotics. It is often socially and sometimes also physically disabling. The clinical picture can be divided into orofacial, limb-truncal, and respiratory dyskinesia. The clinica

  17. Clinical diagnosis of dental caries: a European perspective.

    Science.gov (United States)

    Pitts, N B

    2001-10-01

    The aim of this paper is to provide a broad international perspective on aspects of the RTI/UNC systematic review, to introduce relevant literature not cited, and to make recommendations for clinical practice education and research suggested by the evidence. Clinical caries diagnosis represents the foundation on which the answers to most of the consensus questions will be based. This paper highlights needs for being clear about definitions and nomenclature; understanding the importance of the concepts underlying the D1 and D3 diagnostic thresholds used widely within the RTI/UNC Review; and appreciating that the diagnostic challenge now faced by clinicians is significant and is becoming more complex as the presentation and distribution of the disease changes over time and the range of preventive and operative treatment options expands. A series of recommendations informed by the evidence are made, including a rather contentious issue for many clinicians concerning the lack of evidence supporting the continued use of a sharp explorer as a diagnostic tool for primary caries diagnosis. This practice should be discontinued as it may cause some harm to the patient and yet fails to provide a significant balancing diagnostic benefit. Finally, it is suggested that dentistry should learn from the developing evidence base in medicine on how best to disseminate the findings of reviews and promote appropriate changes in clinical practice.

  18. Systematic Approach toward the Clinical Diagnosis of Functional Dyspepsia

    Directory of Open Access Journals (Sweden)

    Pierre Paré

    1999-01-01

    Full Text Available Functional dyspepsia (FD is the most common condition in patients consulting with upper gastrointestinal tract symptoms, resulting in up to 5% of visits to family physicians. By definition, patients with FD have no clinical, biochemical or endoscopic evidence of an organic disease that is likely to explain their symptoms. The process to be used in a structured interview for establishing a clinical diagnosis of FD is presented. The steps are as follows: determine the duration and the course of the disease; characterize the current syndrome and review the alarm symptoms; elicit the patient-perceived dominant symptom and/or condition; and identify the patient’s reason for consulting and address the psychosocial factors. According to the clinical characteristics of the three most frequent causes of dyspepsia (peptic ulcer, gastroesophageal reflux and FD and acknowledging that these conditions may coexist rather than overlap in some patients, an algorithm is suggested for establishing a working diagnosis of FD and indications for investigation, and initiating a management strategy.

  19. Holocord spinal epidural abscess in a pregnant patient presenting as premature labour: a rare presentation of an unusual diagnosis.

    Science.gov (United States)

    Burton, Kirsteen R; Wang, Xi; Dhanoa, Deljit

    2014-07-01

    Spinal epidural abscess (SEA) is a rare clinical entity. It is less common when the entire epidural space is involved, known as a holocord or panspinal SEA, and it is even less common in a pregnant patient. We report a case of methicillin-resistant Staphylococcus aureus holocord SEA in a 30-year-old female at approximately 22 weeks' gestational age who presented with lumbar pain and pelvic pressure and the urge to bear down. Magnetic resonance imaging of the spine demonstrated extensive SEA and meningitis from the foramen magnum to the lumbar spine that was treated both medically and surgically. The incidence of, clinical presentation of, and risk factors for developing SEA are discussed. If untreated, expanding SEAs produce sensory symptoms and signs, motor dysfunction, and, eventually, paralysis and death. The medical and surgical management of SEA is also discussed. SEA can have an insidious and atypical presentation despite extensive involvement of the epidural space. Therefore, the diagnosis of SEA should always be considered in patients who present to the emergency department with back pain.

  20. The Role of Biomedical Knowledge in Diagnosis of Difficult Clinical Cases

    Science.gov (United States)

    Woods, Nicole N.; Brooks, Lee R.; Norman, Geoffrey R.

    2007-01-01

    Although biomedical knowledge is believed to be of little value in diagnosis of routine clinical cases, studies of clinical reasoning have found that physicians revert to use of basic biomedical knowledge when faced with challenging clinical problems. The current paper presents two experiments that empirically examine the role of biomedical…

  1. Case of clinical Reye syndrome presenting characteristic CT changes

    Energy Technology Data Exchange (ETDEWEB)

    Hino, Tamaki; Sai, Hoshun; Morikawa, Yuji; Mizuta, Ryuzo (Kyoto Second Red Cross Hospital (Japan)); Okuno, Takehiko

    1984-05-01

    A 9-month-old male infant was admitted to our hospital on the second day of cold like syndrome because of high fever, convulsion, coma, and decerebrate rigidity. Serum GOT, GPT, LDH, and CPK were markedly elevated. Serum ammonia was slightly increased, and hypoglycemia was present. The cerebrospinal fluid showed no pleocytosis, normal sugar content, but increased protein. Thus we made a diagnosis of clinical Reye syndrome according to the criteria by Yamashita, et al. A CT on the day of admission showed symmetrical low-density areas in the posterior fossa and the regions of thalamus. Ringed enhancements were seen around the areas of low density in the thalamus on the twenty-second hospital day. We consider that these lesions may represent the infarction due to obstruction of the thalamoperforant arteries caused by cerebral edema in the early stage of the disease.

  2. Endodontic diagnosis: evaluation between clinical and histological findings

    Directory of Open Access Journals (Sweden)

    Paloma Souza Gonçalves

    2008-01-01

    Full Text Available Objective: In this study, the aim was to analyze the histologic alterations in thirty dental pulps and correlate them with the clinical findings to verify agreement between the clinical and histopathologic diagnosis and contribute to knowledge about endodontic diagnosis. Methods: Using the methodology of Oliveira4, the pulpal conditions were clinically classified as normal, reversible pulpitis, pulpitis at the stage of transition, irreversible pulpitis and necrosis. Results: Lack of correlation was observed between the clinical and histopathologic diagnoses in the cases classified as reversible and at the stage of transition, which histologically consisted of irreversible lesions or degenerative alterations. All the cases clinically classified as irreversible corresponded to the histologic diagnoses. Conclusion: It was concluded that the correlation between clinical and histopathologic diagnosis of dental pulp was shown to be controversial, even though the semiotechnique used had been imperative for guidance about the irreversibility of pulpal lesion.

  3. Clinical Presentation of Atypical Genital Herpes

    Institute of Scientific and Technical Information of China (English)

    李俊杰; 梁沛杨; 罗北京

    2002-01-01

    Objective: To make a clinical analysis on the basis of 36cases of atypical genital herpes (GH) patients. Methods: Thirty-six cases of atypical GH were diagnosedclinically, and their case histories, symptoms and signs wererecorded in detail and followed up. Polymerase chain reaction(PCR) was adopted for testing HSV2-DNA with cotton-tippedswabs. Enzyme-linked immuno sorbent assay (ELISA) forserum anti-HSV2-IgM was done to establish a definfiivediagnosis. Other diagnoses were excluded at the same time bytesting for related pathogens including fungi, Chlamydia,Mycoplasma, Treponema pallidum, gonococci, Trichomonas,etc. Results: The main clinical manifestations of atypical GHwere: (1) small genital ulcers; (2) inflammation of urethralmeatus; (3) nonspecific genital erythema; (4) papuloid noduleson the glands; (5) nonspecific vaginitis. Twenty-three cases(64%) tested by PCR were HSV2-DNA sera-positive, and 36cases (100 %) anti-HSV2-IgM sera-positive by ELISA. Conclusion: atypical HSV is difficult to be diagnosed. Butthe combination of PCR and ELIAS will be helpful to thediagnosis of atypical HSV.

  4. Clinical oncology in Malaysia: 1914 to present.

    Science.gov (United States)

    Lim, Gcc

    2006-01-01

    A narration of the development of staff, infrastructure and buildings in the various parts of the country is given in this paper. The role of universities and other institutions of learning, public health, palliative care, nuclear medicine and cancer registries is described together with the networking that has been developed between the government, non-governmental organisations and private hospitals. The training of skilled manpower and the commencement of the Master of Clinical Oncology in the University of Malaya is highlighted. Efforts taken to improve the various aspects of cancer control which includes prevention of cancer, early detection, treatment and palliative care are covered. It is vital to ensure that cancer care services must be accessible and affordable throughout the entire health system, from the primary care level up to the centres for tertiary care, throughout the whole country.

  5. Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis.

    Science.gov (United States)

    Zhang, Ying-Shuang; Sun, A-Ping; Chen, Lu; Dong, Rong-Fang; Zhong, Yan-Feng; Zhang, Jun

    2015-01-01

    Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysiological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neuropathy (n = 6), perineuritis (n = 2), chronic inflammatory demyelinating polyradiculoneuropathy (n = 2) or Lewis-Sumner syndrome (n = 1) on the basis of clinical features, laboratory data, electrophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients (11/14). Nerve biopsy pathological diagnosis is crucial to the etiological diagnosis of multiple mononeuropathy.

  6. Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis

    Directory of Open Access Journals (Sweden)

    Ying-shuang Zhang

    2015-01-01

    Full Text Available Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysiological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neuropathy (n = 6, perineuritis (n = 2, chronic inflammatory demyelinating polyradiculoneuropathy (n = 2 or Lewis-Sumner syndrome (n = 1 on the basis of clinical features, laboratory data, electrophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients (11/14. Nerve biopsy pathological diagnosis is crucial to the etiological diagnosis of multiple mononeuropathy.

  7. Nerve biopsy ifndings contribute to diagnosis of multiple mononeuropathy:78% of ifndings support clinical diagnosis

    Institute of Scientific and Technical Information of China (English)

    Ying-shuang Zhang; A-ping Sun; Lu Chen; Rong-fang Dong; Yan-feng Zhong; Jun Zhang

    2015-01-01

    Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysi-ological and nerve biopsy ifndings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neurop-athy (n = 6), perineuritis (n = 2), chronic inlfammatory demyelinating polyradiculoneuropathy (n = 2) or Lewis-Sumner syndrome (n = 1) on the basis of clinical features, laboratory data, elec-trophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inlfamma-tory demyelinating polyradiculoneuropathy were not conifrmed by nerve biopsy. Nerve biopsies conifrmed clinical diagnosis in 78.6% of the patients (11/14). Nerve biopsy pathological diagno-sis is crucial to the etiological diagnosis of multiple mononeuropathy.

  8. CT of jejunal diverticulitis: imaging findings, differential diagnosis, and clinical management

    Energy Technology Data Exchange (ETDEWEB)

    Macari, M.; Faust, M.; Liang, H.; Pachter, H.L

    2007-01-15

    Aim: To describe the imaging findings of jejunal diverticulitis as depicted at contrast-enhanced computed tomography (CT) and review the differential diagnosis and clinical management. Materials and Methods: CT and pathology databases were searched for the diagnosis of jejunal diverticulitis. Three cases were identified and the imaging and clinical findings correlated. Results: Jejunal diverticulitis presents as a focal inflammatory mass involving the proximal small bowel. A trial of medical management with antibiotics may be attempted. Surgical resection may be required if medical management is unsuccessful. Conclusion: The imaging findings at MDCT may allow a specific diagnosis of jejunal diverticulitis to be considered and may affect the clinical management of the patient.

  9. Small Renal Masses: Incidental Diagnosis, Clinical Symptoms, and Prognostic Factors

    Directory of Open Access Journals (Sweden)

    F. M. Sánchez-Martín

    2008-01-01

    Full Text Available Introduction. The small renal masses (SRMs have increased over the past two decades due to more liberal use of imaging techniques. SRMs have allowed discussions regarding their prognostic, diagnosis, and therapeutic approach. Materials and methods. Clinical presentation, incidental diagnosis, and prognosis factors of SRMs are discussed in this review. Results. SRMs are defined as lesions less than 4 cm in diameter. SRM could be benign, and most malignant SMRs are low stage and low grade. Clinical symptoms like hematuria are very rare, being diagnosed by chance (incidental in most cases. Size, stage, and grade are still the most consistent prognosis factors in (RCC. An enhanced contrast SRM that grows during active surveillance is clearly malignant, and its aggressive potential increases in those greater than 3 cm. Clear cell carcinoma is the most frequent cellular type of malign SRM. Conclusions. Only some SRMs are benign. The great majority of malign SRMs have good prognosis (low stage and grade, no metastasis with open or laparoscopic surgical treatment (nephron sparing techniques. Active surveillance is an accepted attitude in selected cases.

  10. [Clinical presentation and coronary angiographic results in unstable angina pectoris].

    Science.gov (United States)

    Weber, T; Kirchgatterer, A; Auer, J; Wimmer, L; Lang, G; Mayr, H; Maurer, E; Punzengruber, C; Eber, B

    1999-01-01

    The syndrome "unstable angina" (UA) covers a broad spectrum of patients. In this study we tried to determine the relationship between the severity of UA and angiographic findings. We evaluated 1000 consecutive patients undergoing coronary angiography. Those with the clinical diagnosis "UA" were included in the study. In a retrospective analysis of their records we categorized them, using the Braunwald-classification for determination of the severity of the disease. 352 patients were include, 209 men and 143 women, the mean age was 65 years. 47% met Braunwald-Class I, 26% Class II and 27% Class III. Coronary single-vessel disease was present in 29%, two-vessel disease in 20%, three-vessel disease in 25%, normal coronaries in 13% and coronary atherosclerosis without critical narrowing in 13%. Left ventricular function was preserved in 72%, mild systolic dysfunction was found in 10%, moderate in 13% and severe in 5%. There was no overall correlation between clinical presentation (Braunwald-Classes) and angiographic findings. Women showed a similar distribution of Braunwald-Classes, but significantly more coronary arteries without critical obstruction. In patients with reduced systolic function the percentage of multi-vessel disease was significantly higher, the percentage without relevant coronary artery narrowing was significantly lower. 1) The lack of overall correlation between clinical presentation and angiographic findings supports the importance of coronary angiography in the evaluation of patients with UA. 2) The assessment of women with chest pain is more difficult than of men with regard to coronary heart disease. 3) UA in patients with impaired left ventricular function is a predictor of severe coronary artery disease.

  11. Novel bronchoscopic strategies for the diagnosis of peripheral lung lesions: present techniques and future directions.

    Science.gov (United States)

    Gilbert, Christopher; Akulian, Jason; Ortiz, Ricardo; Lee, Hans; Yarmus, Lonny

    2014-07-01

    The diagnosis of the peripheral lung lesion has been a long-standing clinical challenge--balancing accuracy with patient safety. With recent data revealing mortality benefits with lung cancer screening via low-dose computed tomography, now more than ever, clinicians will be challenged with the task of providing the means to provide a safe and minimally invasive method of obtaining accurate tissue diagnostics for the pulmonary nodule. In this review, we present available technologies to aid clinicians in attempts at minimally invasive techniques and the data supporting their use. In addition, we review novel tools under investigation that may further increase yield and provide additional benefit in obtaining an early diagnosis of lung cancer.

  12. Clinical Neurotoxic Disorders : Past, Present and Future

    Directory of Open Access Journals (Sweden)

    Nag Devika

    2001-01-01

    Full Text Available Neurotoxins have existed on the earth from times immemorial. Old neurotoxic disorders were due to ingestion/ exposure of heavy metals and food like lathyrus sativus over a long period of time. The 20th Century with rapid industrialsation and expanding chemical and drug industry has spawned several new, hitherto unknown disorders. Old disorders continue to exist e.g. fluorosis, arsenicosis, lathyrism, manganism and lead neuropathy, along with new diseases like Minamata disease, subacute myelo optic neuropathy (SMON, MPTP-Parkinsonian syndorme, triorthcresyl phosphate (TOCP neuroparalytic disease, pesticide induced seizures, tremor and neuropathy, solvent encephalopthy, antipileptic drug foetal syndrome and excitotoxin induced behavioural disorders. Studies on pesticides Organochlorine and organophosphates, synthetic pyrethrins, solvents, heavy metals and substances abuse in the Indian context confirm the neurotoxic nature of many synthetic substances. Future problems envisaged are of concern to clinical neurologists as many of these neurotoxic disorders mimic syndromes of well known neurological disease. The new millenium poses a challenge to the clinician as newer compounds in industry, food, drugs and chemical war agents are being developed. Molecular genetics has advanced rapidly with release of the human genome map. Animal cloning and genetically modified plant products have entered the food chain. How safe are these new inventions for the central nervous system is a big question? India cannot afford disasters like Union Carbide′s Bhopal gas leak nor be a silent spectator to manipulative biotechnology. Unless it is proven beyond all doubt to be a safe innovation, Chemicals have to be cautiously introduced in our environment. To Study, ascertain and confirm safety or neurotoxicity is an exciting challenge for the neuroscientists of the 21st century.

  13. [Difficulties in the differential diagnosis of hyponatremia presenting with severe neuropsychiatric symptoms].

    Science.gov (United States)

    Steiner, Tamás; Oláh, Roland; Németh, Attila; Winkler, Gábor

    2013-08-04

    Hyponatremia is the most frequent eletrolyte imbalance in hospitalized geriatric patient. The accompanying signs and symptoms can run a wide range and, therefore, these patients are usually admitted to various departments, i.e. neurology and/or traumatology first. Directed laboratory investigations demonstrate severe hyponatremia. Differential diagnosis can be very difficult and complex in the clinical settings. Firstly, spurious forms of hyponatremia have to be excluded, then the underlying cause should elucidated based on the patients hydration status and serum osmolarity. Hyponatremia can be divided into hyper-, hypo- and normovolemic forms. Moreover, it can be further classified as hypo-, iso- and hyperosmolar hyponatremias. The differentiation between renal and extrarenal salt wasting forms is hinged on the urine sodium concentration. Syndrome of inappropriate antidiuretic hormone secretion is the most common cause of normovolemic, hypoosmolar forms (named also as Schwartz-Bartter syndrome). The authors aimed to shed light on the often insurmountable difficulties of the diagnosis, differential diagnosis and appropriate treatment of this very frequent electrolyte imbalance by presenting a clinical case report. Their purported aim reflects upon the wide array of ethiopathogenesis of hyponatremia: various endocrine, renal diseases, inappropriateness of antidiuretic hormone secretion as well as the role of different medications (e.g. diuretics). This fine-tuned and intricate physiology of sodium metabolism could fortuitously be overturned by these mechanisms.

  14. Granulomatous Amoebic Encephalitis: Clinical Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    Naveed A. Khan

    2005-01-01

    Full Text Available Granulomatous amoebic encephalitis (GAE is a serious human disease with fatal consequences. With the mortality rate of more than 90%, it is not surprising that the majority of GAE infections are identified at the post-mortem stage. The most distressing aspect is that the high level of mortality is attributed to lack of awareness. Early diagnosis with aggressive treatment can lead to successful prognosis for the patient. Here, we describe a brief overview of the current understanding of the pathophysiology of GAE, available diagnostic methods, possible therapeutic interventions and the causative agents.

  15. Pathophysiology and clinical presentations of salt-losing tubulopathies.

    Science.gov (United States)

    Seyberth, Hannsjörg W

    2016-03-01

    At least three renal tubular segments are involved in the pathophysiology of salt-losing tubulopathies (SLTs). Whether the pathogenesis starts either in the thick ascending limb of the loop of Henle (TAL) or in the distal convoluted tubule (DCT), it is the function of the downstream-localized aldosterone sensitive distal tubule (ASDT) to contribute to the adaptation process. In isolated TAL defects (loop disorders) ASDT adaptation is supported by upregulation of DCT, whereas in DCT disorders the ASDT is complemented by upregulation of TAL function. This upregulation has a major impact on the clinical presentation of SLT patients. Taking into account both the symptoms and signs of primary tubular defect and of the secondary reactions of adaptation, a clinical diagnosis can be made that eventually leads to an appropriate therapy. In addition to salt wasting, as occurs in all SLTs, characteristic features of loop disorders are hypo- or isosthenuric polyuria and hypercalciuria, whereas characteristics of DCT disorders are hypokalemia and (symptomatic) hypomagnesemia. In both SLT categories, replacement of urinary losses is the primary goal of treatment. In loop disorders COX inhibitors are also recommended to mitigate polyuria, and in DCT disorders magnesium supplementation is essential for effective treatment. Of note, the combination of a salt- and potassium-rich diet together with an adequate fluid intake is always the basis of long-term treatment in all SLTs.

  16. Substance use disorders in men presenting to a psychosexual clinic.

    Science.gov (United States)

    Rajkumar, Ravi Philip

    2014-01-01

    Introduction. Substance use disorders (SUDs) are commonly associated with a variety of psychiatric disorders. Community-based studies have found a significant association between SUDs and sexual dysfunction in men, with a possible causal relation in the case of nicotine. Methods. The case records of 105 men presenting to a clinic for patients with psychosexual disorders were reviewed. Men with and without comorbid SUDs were compared in terms of demographic, clinical, and familial variables. Results. 25 of the 105 men (23.8%) had a lifetime diagnosis of SUD, and 19 (18.1%) had a current SUD. The commonest substances involved were nicotine (n = 21, 20%) and alcohol (n = 9, 9.5%). Men with comorbid SUDs were more likely to report a family history of substance dependence, particularly alcoholism. Single men with SUDs were more likely to have a comorbid mood disorder. Conclusion. SUDs, particularly nicotine and alcohol use disorders, are common comorbidities in patients with psychosexual disorders. Identifying and treating these disorders in this population are important aspects of management.

  17. [Clinical importance and diagnosis of halitosis].

    Science.gov (United States)

    Akos, Nagy; Zsolt, Brugoviczky; Péter, Novák; Gábor, Nagy

    2012-09-01

    The origin of halitosis comes from the Latin word "halitus" meaning 'breath, exhaled air', and in the Hungarian terminology it means bad and smelly breath. The human body emits a number of volatile molecules, which have a peculiar odour. Their presence is influenced by several factors, such as genetic, nutritional and psychological factors. Since bad breath belongs to taboo subjects, halitosis can often lead to social isolation. To determine the incidence of halitosis, an exact diagnosis is needed which sometimes predestinates the possible treatment as well. Investigators estimate the incidence about 50% in the whole population. The male/female ratio is the same and the incidence is growing with age. The diagnosis can be genuine halitosis, pseudo halitosis and halitophobia. We can divide the genuine type into physiological and pathophysiological subtypes. The cause of the halitosis usually can be found in the oral cavity. The volatile sulfur compounds (VSC) produced by some of the oral bacteria are responsible for its development. Only 10% of the causes are extraoral, mostly inflammation of airways or gastrointestinal disorders. The judgment of halitosis is based on three objective methods: the organoleptic, the sulphide monitoring and the gas cromatography methods. Since the origin of the halitosis is mainly the oral cavity, dentists should treat them. Beyond the dental treatments the enhancement of the oral hygiene, the continuous motivation and monitoring are also very important, such as the use of tongue cleansing and special anti-malodour rinses.

  18. Lobomycosis: epidemiology, clinical presentation, and management options

    Directory of Open Access Journals (Sweden)

    Francesconi VA

    2014-10-01

    Full Text Available Valeska Albuquerque Francesconi,1 Ana Paula Klein,2 Ana Paula Botelho Gualda Santos,2 Rajendranath Ramasawmy,3 Fábio Francesconi4 1Department of Dermatology, Tropical Medicine Foundation Heitor Vieira Dourado, Manaus, Amazonas, Brazil; 2Amazon Federal University, Manaus, Amazonas, Brazil; 3Department of Immunogenetics, 4Department of Dermatology, Tropical Medicine Foundation Heitor Vieira Dourado, Manaus, Amazonas, Brazil Abstract: Lobomycosis is a subcutaneous mycosis of chronic evolution caused by the Lacazia loboi fungus. Its distribution is almost exclusive in the Americas, and it has a particularly high prevalence in the Amazon basin. Cases of lobomycosis have been reported only in dolphins and humans. Its prevalence is higher among men who are active in the forest, such as rubber tappers, bushmen, miners, and Indian men. It is recognized that the traumatic implantation of the fungus on the skin is the route by which humans acquire this infection. The lesions affect mainly exposed areas such as the auricles and upper and lower limbs and are typically presented as keloid-like lesions. Currently, surgical removal is the therapeutic procedure of choice in initial cases. Despite the existing data and studies to date, the active immune mechanisms in this infection and its involvement in the control or development of lacaziosis have not been fully clarified. In recent years, little progress has been made in the appraisal of the epidemiologic aspects of the disease. So far, we have neither a population-based study nor any evaluation directed to the forest workers. Keywords: infection, Lacazia loboi, lobomycosis, lacaziosis, mycosis 

  19. Paraneoplastic polymyositis presenting as a clinically occult breast cancer.

    Science.gov (United States)

    Merali, N; Yousuff, M; Pronisceva, V; Poddar, A

    2017-02-01

    Paraneoplastic syndrome affects less than 1% of cancer patients. Diagnosis of paraneoplastic syndrome with neurological presentation requires screening for an underlying malignancy, including a complete history, physical examination and imaging studies. Treatment often results in symptom stability, rather than improvement. Paraneoplastic polymyositis can precede or instantaneously occur at diagnosis or treatment of a primary tumour, while neurological symptoms can persist even following cancer treatment. We report a rare case of metaplastic breast carcinoma with an unusual presentation of paraneoplastic polymyositis.

  20. CLINICAL PRESENTATION AND MANAGEMENT OF AMOEBIC LIVER ABSCESS

    Directory of Open Access Journals (Sweden)

    Naveen

    2015-12-01

    Full Text Available BACKGROUND AND OBJECTIVES ALA has gained importance during recent years as a result of increasing world travel, economic globalization and the growing number of chronically immunosuppressed people. AIDS and the increasing use of organ transplants have led to a new population at risk. In our study we aimed to analyse the clinical presentation and management of Amoebic liver abscess at Sree Rajarajeshwari Medical College and Hospital, Bangalore. METHODS A hospital based prospective observational study was conducted between Dec. 2013 to June 2015 in Sree Rajarajeshwari Medical College and Hospital, Bangalore. All patients admitted with suspicion of liver abscess were confirmed with ultrasonography. After establishing sonological diagnosis according to criteria, the treatment was started from the day of admission which consisted of Antibiotics, USG guided Aspiration, Pigtail catheterization and Open surgical Drainage. RESULTS Forty five cases of Amoebic liver abscess were studied; 28 patients (62% were between 21 and 40 years of age. Male-to-Female ratio was 14:1. All the patients were from rural background. History of alcoholism was present in 10 patients (22.2%. Plain X-ray abdomen showed signs of peritonitis in 2 patients. Right lobe of liver was involved in 40 cases and left lobe in 3 cases. Both lobes were involved in 2 cases. Twenty six cases were treated conservatively, 11 cases by aspiration, 6 patients by pigtail catheterization. Two patients underwent open surgical drainage for perforated liver abscess. Complications noted in our series were rupture into peritoneal cavity in 2 cases; mortality was seen in 1 case. CONCLUSION Amoebic liver abscess is still one of the commonest parasitic infections of the liver in developing countries. Prompt diagnosis, aggressive medical treatment along with minimal intervention can keep the morbidity and mortality associated with this condition to a bare minimum. The scope of surgery in this condition is

  1. Clinical presentation and risk factors of osteoradionecrosis

    Energy Technology Data Exchange (ETDEWEB)

    Chronopoulos, Aristeidis

    2015-03-26

    Introduction: Osteoradionecrosis (ORN) of the jaws is defined as exposed irradiated bone that fails to heal over a period of 3 months without the evidence of a persisting or recurrent tumor. In the previous decades, numerous factors were associated with the risk of ORN development and severity. Aims: The purposes of this study were to present the data of the patients that were treated for ORN in the Department of Oral and Maxillofacial Surgery in Munich (LMU), to detect factors that contributed to the onset of ORN, to identify risk factors associated with the severity of ORN and finally, to delineate and correlate these factors with the personal, health and treatment characteristics of the patients. Material and Methods: A retrospective study was conducted during the period from January 2003 until December 2012 that included all ORN cases having been treated in the Department of Oral and Maxillofacial Surgery in Munich (LMU). The total sample was categorized in three groups according to stage and several variables were evaluated in an attempt to identify possible correlations between them and the necrosis severity. Results: One hundred and fifty three cases of ORN were documented. Among them, 23 (15.1%) cases were stage I, 31 (20.2%) were stage II and 99 (64.7%) were stage III and all localised in the mandible. There was a predominance of the disease in the posterior region when compared to the anterior region. The majority of cases was addicted to alcohol and tobacco abuse and was suffering from Diabetes Mellitus (DM). All cases were treated with RT and 80.4% of them with concomitant chemotherapy. The initial tumor was predominantly located in the floor of the mouth, the tongue and the pharynx. Approximately two thirds of the cases occured either after dental treatment or due to a local pathological condition. Logistic regression analysis identified Diabetes Mellitus (OR: 4.955, 95% Cl: 1.965-12.495), active smoking (OR: 13.542, 95% Cl: 2.085-87.947), excessive

  2. Emphysematous pyelonephritis. Clinical findings and radiological diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Tomiie, Fumitaka; Okuyama, Chio; Kizu, Osamu [Kyoto Prefectural Univ. of Medicine (Japan)] [and others

    1996-01-01

    Emphysematous pyelonephritis is a rare, life-threatening necrotizing renal infection characterized by the production of intrarenal and perirenal gas. Seven patients with emphysematous pyelonephritis were reviewed. Six patients were associated with diabetes mellitus and one with obstructive nephrouropathy. Bilateral emphysematous involvement was seen in two and unilateral involvement in five patients. Bilateral disease was accompanied by thoracic lesions such as mediastinitis and/or pleuritis. In two of three patients with medical management alone, multiple organ failure secondary to sepsis was a cause of death. CT provided information indispensable to a correct diagnosis and was useful in evaluating the extension of the disease process. In patients with bilateral disease or unilateral involvement with a prolonged history, CT scan of the thorax is recommended for the survey of mediastinal and/or pleural involvement. (author).

  3. Lactose intolerance: diagnosis, genetic, and clinical factors

    Directory of Open Access Journals (Sweden)

    Mattar R

    2012-07-01

    Full Text Available Rejane Mattar, Daniel Ferraz de Campos Mazo, Flair José CarrilhoDepartment of Gastroenterology, University of São Paulo School of Medicine, São Paulo, BrazilAbstract: Most people are born with the ability to digest lactose, the major carbohydrate in milk and the main source of nutrition until weaning. Approximately 75% of the world's population loses this ability at some point, while others can digest lactose into adulthood. This review discusses the lactase-persistence alleles that have arisen in different populations around the world, diagnosis of lactose intolerance, and its symptomatology and management.Keywords: hypolactasia, lactase persistence, lactase non-persistence, lactose, LCT gene, MCM6 gene

  4. The benefit of combining clinical and radiological assessments in diagnosis of inherited muscle diseases

    OpenAIRE

    Ahmed Wafaie; Ahmed Aboumousa

    2014-01-01

    Purpose: To study the benefit of combining clinical and radiological assessments in the diagnosis of inherited muscle diseases. Subjects and methods: This cross sectional study included 45 patients presenting with manifestations of muscle disease. They were subjected to thorough clinical assessment and MRI examination of thigh and leg muscles. Independent clinical and radiological assessments were performed followed by combining the clinical categorization and radiological signs together t...

  5. Modular sensor architecture for unobtrusive routine clinical diagnosis

    OpenAIRE

    Storz, Oliver; Friday, Adrian; Crowe, J; Hayes-Gill, B; Sumner, M.; Barratt, C; Palethorpe, B.; Greenhalgh, C.; Humble, Jan; Setchell, Chris; Randell, Cliff; Muller, Henk; EPSRC

    2004-01-01

    Clinical diagnosis of pathological conditions is accomplished regularly via the recording and subsequent analysis of a physiological variable from a subject. Problems with current common practice centre around the obtrusive and rigid nature of this process. These include the length, timing and location of the diagnostic recording session, transfer of data to clinical staff, liaison between clinical staff and subjects and the integration of such diagnostic check-ups into the overall health car...

  6. Challenge in Clinical Diagnosis and Treatment of Leptospirosis

    Directory of Open Access Journals (Sweden)

    Dora I. Ríos

    2015-01-01

    Full Text Available Abstract: Introduction: Leptospirosis is an acute febrile disease caused by the leptospira. It is considered a zoonosis that affects a variety of animals, both wild and domestic (mainly rodents. Humans become infected accidentally by contact with urine or tissues from infected animals. This pathology has variable clinical manifestations, ranging from inapparent infections and aseptic meningitis, to severe forms such as the Weil syndrome. Development: We present the case of a young patient of 22 years old with fever quantified peaks of 40° C, chills, profuse sweating, headache, muscle and joint pain in knees and malleoli, retroorbital and retrosternal pain; and appetite loss. The symptoms occurred after 20 days of having practiced extreme water sports. Conclusion: The late diagnosis of the patient and hospital readmission are the result of several factors; First, the homology with other infectious diseases that present acute febrile illness with similar symptoms as dengue , malaria, influenza , yellow fever , brucellosis; and secondly the lack of expertise and poor contact with patients who present this disease by the medical staff. Correct antibiotic treatment and proper support reduce morbidity and mortality. The objective of this article is to describe a case of human leptospirosis and make a review of the literature in order to analyze the epidemiological characteristics and relevant clinical manifestations.

  7. Clinical and CT Histological Diagnosis of Orbital Tumors

    Institute of Scientific and Technical Information of China (English)

    HU Yanhua; WANG Jie; XIAO Shiyi

    2000-01-01

    The clinical manifestation and characteristics of CT image of 117 cases of orbital tumors in our hospital were investigated. The hemangioma had the highest incidence, and the less common tumors were, in sequence of incidence, pseudotumor, dermoid cysts, neurilemmoma, polymorphous adenoma and meningioma. The sensitivity in diagnosis of orbital tumor by CT was 93.3%. The coincidence of CT histological diagnosis with pathology were 83.3 %, 82.6 % and 71.4% for dermoid.cysts, hemangioma, and pseudotumor respectively, but the general coincidence of CT histological diagnosis with pathology was only 67.8 %. When CT was combined with ultrasound, cytological examination and clinical manifestations, the accuracy of histological diagnosis could be improved to 83.3 %.

  8. Clinical symptoms, diagnosis, and treatment of neurocysticercosis.

    Science.gov (United States)

    Garcia, Hector H; Nash, Theodore E; Del Brutto, Oscar H

    2014-12-01

    The infection of the nervous system by the cystic larvae of Taenia solium (neurocysticercosis) is a frequent cause of seizure disorders. Neurocysticercosis is endemic or presumed to be endemic in many low-income countries. The lifecycle of the worm and the clinical manifestations of neurocysticercosis are well established, and CT and MRI have substantially improved knowledge of the disease course. Improvements in immunodiagnosis have further advanced comprehension of the pathophysiology of this disease. This knowledge has led to individualised treatment approaches that account for the involvement of parenchymal or extraparenchymal spaces, the number and form of parasites, and the extent of degeneration and associated inflammation. Clinical investigations are focused on development of effective treatments and reduction of side-effects induced by treatment, such as seizures, hydrocephalus, infarcts, and neuroinjury.

  9. Clostridium difficile: clinical disease and diagnosis.

    OpenAIRE

    Knoop, F C; Owens, M.; Crocker, I C

    1993-01-01

    Clostridium difficile is an opportunistic pathogen that causes a spectrum of disease ranging from antibiotic-associated diarrhea to pseudomembranous colitis. Although the disease was first described in 1893, the etiologic agent was not isolated and identified until 1978. Since clinical and pathological features of C. difficile-associated disease are not easily distinguished from those of other gastrointestinal diseases, including ulcerative colitis, chronic inflammatory bowel disease, and Cro...

  10. Evaluation of a novel portable capacitive ECG system in the clinical practice for a fast and simple ECG assessment in patients presenting with chest pain: FIDET (Fast Infarction Diagnosis ECG Trial)

    OpenAIRE

    Rasenack, Eva; Oehler, Martin; Elsässer, Albrecht; Schilling, Meinhard; Maier, Lars

    2012-01-01

    Background Electrocardiogram (ECG) assessment plays a crucial role in patients presenting with chest pain and suspected acute coronary syndrome (ACS). In a pilot study, we previously evaluated a capacitive ECG system (cECG) as a novel ECG technique for a fast and simple ECG assessment in patients with ST-elevation myocardial infarction (STEMI). In a next step, the sensitivity and specificity of this novel ECG technique have to be assessed in patients with ACS. Hypothesis The Fast Infarction D...

  11. 临床诊断思维%Clinical diagnosis thinking

    Institute of Scientific and Technical Information of China (English)

    潘祥林; 王涓冬; 赵华

    2015-01-01

    In order to improve the level and the ability of clinical physician′s diagnosis thinking,in this paper, the concept and importance of clinical diagnosis thinking, the basic conditions of diagnosis thinking,and the main methods of clinical diagnosis thinking are expounded.The relationship of clinical medical practice and improving the level and the ability of clinical thinking is reiterated.Several conditions of evaluating the level and the ability of clinical thinking are put forward.%为提高临床医师诊断思维水平与能力。本文阐述了临床诊断思维的概念与重要性;进行诊断思维应具备的基本条件;临床诊断思维常用的几种方法;重申了临床医疗实践与提高临床思维水平和能力的关系;初步提出了评价临床思维水平和能力的几个条件。

  12. The early clinical features of dengue in adults: challenges for early clinical diagnosis.

    Directory of Open Access Journals (Sweden)

    Jenny G H Low

    Full Text Available BACKGROUND: The emergence of dengue throughout the tropical world is affecting an increasing proportion of adult cases. The clinical features of dengue in different age groups have not been well examined, especially in the context of early clinical diagnosis. METHODOLOGY/PRINCIPAL FINDINGS: We structured a prospective study of adults (≥ 18 years of age presenting with acute febrile illness within 72 hours from illness onset upon informed consent. Patients were followed up over a 3-4 week period to determine the clinical outcome. A total of 2,129 adults were enrolled in the study, of which 250 (11.7% had dengue. Differences in the rates of dengue-associated symptoms resulted in high sensitivities when the WHO 1997 or 2009 classification schemes for probable dengue fever were applied to the cohort. However, when the cases were stratified into age groups, fewer older adults reported symptoms such as myalgia, arthralgia, retro-orbital pain and mucosal bleeding, resulting in reduced sensitivity of the WHO classification schemes. On the other hand, the risks of severe dengue and hospitalization were not diminished in older adults, indicating that this group of patients can benefit from early diagnosis, especially when an antiviral drug becomes available. Our data also suggests that older adults who present with fever and leukopenia should be tested for dengue, even in the absence of other symptoms. CONCLUSION: Early clinical diagnosis based on previously defined symptoms that are associated with dengue, even when used in the schematics of both the WHO 1997 and 2009 classifications, is difficult in older adults.

  13. Diagnosis and clinical implications of pancreatobiliary reflux

    Institute of Scientific and Technical Information of China (English)

    Terumi Kamisawa; Hajime Anjiki; Naoto Egawa; Masanao Kurata; Goro Honda; Kouji Tsuruta

    2008-01-01

    The sphincter of Oddi is located at the distal end of the pancreatic and bile ducts and regulates the outflow of bile and pancreatic juice.A common channel can be so long that the junction of the pancreatic and bile ducts is located outside of the duodenal wall,as occurs in pancreaticobiliary maljunction (PBM);in such cases,sphincter action does not functionally affect the junction.As the hydropressure within the pancreatic duct is usually greater than in the bile duct,pancreatic juice frequently refluxes into the biliary duct (pancreatobiliary reflux) in PBM,resulting in carcinogenetic conditions in the biliary tract.Pancreatobiliary reflux can be diagnosed from elevated amylase level in the bile,secretinstimulated dynamic magnetic resonance cholangiop ancreatography,and pancreatography via the minor duodenal papilla.Recently,it has become obvious that pancreatobiliary reflux can occur in individuals without PBM.Pancreatobiliary reflux might be related to biliary carcinogenesis even in some individuals without PBM.Since few systemic studies exist with respect to clinical relevance and implications of the pancreatobiliary reflux in individuals with normal pancreaticobiliary junction,further prospective clinical studies including appropriate management should be performed.

  14. Air Embolism: Diagnosis, Clinical Management and Outcomes

    Directory of Open Access Journals (Sweden)

    Colin J. McCarthy

    2017-01-01

    Full Text Available Air embolism is a rare but potentially fatal complication of surgical procedures. Rapid recognition and intervention is critical for reducing morbidity and mortality. We retrospectively characterized our experience with air embolism during medical procedures at a tertiary medical center. Electronic medical records were searched for all cases of air embolism over a 25-year period; relevant medical and imaging records were reviewed. Sixty-seven air embolism cases were identified; the mean age was 59 years (range, 3–89 years. Ninety-four percent occurred in-hospital, of which 77.8% were during an operation/invasive procedure. Vascular access-related procedures (33% were the most commonly associated with air embolism. Clinical signs and symptoms were related to the location the air embolus; 36 cases to the right heart/pulmonary artery, 21 to the cerebrum, and 10 were attributed to patent foramen ovale (PFO. Twenty-one percent of patients underwent hyperbaric oxygen therapy (HBOT, 7.5% aspiration of the air, and 63% had no sequelae. Mortality rate was 21%; 69% died within 48 hours. Thirteen patients had immediate cardiac arrest where mortality rate was 53.8%, compared to 13.5% (p = 0.0035 in those without. Air emboli were mainly iatrogenic, primarily associated with endovascular procedures. High clinical suspicion and early treatment are critical for survival.

  15. HIV diagnosis in a patient presenting with vasculitis.

    Science.gov (United States)

    Sharif, M; Hameed, S; Akin, I; Natarajan, U

    2016-02-01

    A patient with digital ischaemia and gangrene was treated with iloprost and antiplatelets for two weeks. His vasculitic screen was negative except for a positive HIV test. His vasculitis improved three weeks after treatment with antiretroviral medications. Though vasculitis is well known to be associated with HIV infection, very few cases of HIV present as vasculitis.

  16. Down syndrome and moyamoya: clinical presentation and surgical management.

    Science.gov (United States)

    See, Alfred P; Ropper, Alexander E; Underberg, Daniel L; Robertson, Richard L; Scott, R Michael; Smith, Edward R

    2015-07-01

    OBJECT Moyamoya can cause cerebral ischemia and stroke in Down syndrome (DS) patients. In this study, the authors defined a surgically treated population of patients with DS and moyamoya and compared their clinical presentation, response to surgical treatment, and long-term prognosis with those of the general population of patients with moyamoya but without DS. METHODS This study was a retrospective review of a consecutive operative series of moyamoya patients with DS treated at Boston Children's Hospital from 1985 through 2012. RESULTS Thirty-two patients, average age 9.7 years (range 1.8-29.3 years), underwent surgery for moyamoya in association with DS. The majority presented with ischemic symptoms (87% stroke, 42% transient ischemic attacks). Twenty-four patients (75%) had congenital heart disease. Nineteen patients (59%) had bilateral moyamoya on presentation, and 13 presented with unilateral disease, of which 2 progressed to surgery on the opposite side at a later date. Patients were followed for a median of 7.5 years (1-20.2 years) after surgery, with no patients lost to follow-up. Follow-up arteriography demonstrated Matsushima Grade A collaterals in 29 of 39 (74%) hemispheres, Grade B in 5 (13%), and Grade C in 5 (13%). Complications included postoperative strokes in 2 patients, which occurred within 48 hours of surgery in both; one of these patients had arm weakness and the other confusion (both had recovered completely at follow-up). Seizures occurred in 5 patients perioperatively, including one who had a new seizure disorder related to hypocalcemia. CONCLUSIONS Moyamoya disease is a cause of stroke in patients with DS. Both the incidence of preoperative stroke (87% vs 67%) and the average age at diagnosis for children under age 21 (8.4 vs 6.5 years) were greater in patients with DS and moyamoya than in the general moyamoya surgical population, suggesting a possible delay in reaching a correct diagnosis of the cause of cerebral ischemia in the DS patient

  17. 1.2.Clinical laboratory diagnosis

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930212 Enzymatic analysis of serum total bileacids and clinical evaluation.WEI Youren (魏有仁),et al.Sino—Japan Friendship Hosp,Bei-jing,100029.CHin J Med Lab Technol 1993;16(1):11—14.An enzymatic colorimetric assay of serum to-tal bile acids (TBA) was reported for the firsttime in China.3 α-hydroxysteroid dehydroge-nase (3α-HSD) had been purified from pseu-domonas testosteroni in the sventies,and hadbeen used as a main enzyme reagent in the enzy-matic analysis of TBA.In this paper,the au-thors introduced a rapid,sensitive colorimetricassay using 3α-HSD,and a couple enzyme 5β-steroid Δ~4 dehydrogenase to imcrease the con-

  18. Acute Diagnosis and Management of Stroke Presenting Dizziness or Vertigo.

    Science.gov (United States)

    Lee, Seung-Han; Kim, Ji-Soo

    2015-08-01

    Stroke involving the brainstem and cerebellum frequently presents acute vestibular syndrome. Although vascular vertigo is known to usually accompany other neurologic symptoms and signs, isolated vertigo from small infarcts involving the cerebellum or brainstem has been increasingly recognized. Bedside neuro-otologic examination can reliably differentiate acute vestibular syndrome due to stroke from more benign inner ear disease. Sometimes acute isolated audiovestibular loss may herald impending infarction in the territory of the anterior inferior cerebellar artery. Accurate identification of isolated vascular vertigo is very important because misdiagnosis of acute stroke may result in significant morbidity and mortality.

  19. Influence of clinical and pathologic features on the pathologist's diagnosis of mycosis fungoides: a pilot study.

    Science.gov (United States)

    Rovner, Rebecca; Smith, Hayden L; Katz, Peter J; Liu, Vincent

    2015-07-01

    Although clinicopathologic correlation is critical in the diagnosis of early mycosis fungoides (MF), how clinical information directly affects the pathologist's interpretation is unknown. This pilot study aimed to assess the influence of provided clinical information and specific histopathologic features on the histopathologic diagnosis of MF vs. its inflammatory simulants. A computerized survey recorded diagnostic impressions by 24 dermatopathologists of 30 hematoxylin-eosin stained images, including 15 MF images and 15 dermatitis images. Images were accompanied by concordant clinical descriptions (33%), no clinical information (33%) or discordant clinical descriptions (33%). Percentage of correctly classified MF histopathologic images for the three scenarios of concordant clinical information, no clinical information or discordant clinical information were 32% (kappa 0.19), 56% (kappa 0.12) and 16% (kappa 0.33), respectively. The percentage of correctly classified slides presented with no clinical information was different from the other two groups (p < 0.0001). Pautrier collections were most associated with correct classification. Clinical information may play a significant role in the histopathologic diagnosis of MF, although there may be some value in initial blinded histopathologic interpretation. Specific histopathologic features differ in relative importance in the diagnosis of MF.

  20. Syringoma of vulva: an unusual presentation. Clinical, morphological and immunohistochemical aspects.

    Science.gov (United States)

    Núñez-Troconis, José; Viloria de Alvarado, María Elena

    2015-03-01

    The case of a 34-year-old woman, who consulted because she observed the appearance of numerous yellow-white asymptomatic papules on the vulva, is presented. Clinical diagnosis of syringoma of vulva was established. The pathological and immunohistochemical studies confirmed the diagnosis. Vulvar syringoma usually occurs as a multiple flesh-colored or brownish papules on both sides of labia majora of women in their third decade. Its diagnosis should be considered when the patient complaints of vulvar pruritus and/or sweating.

  1. The diagnosis and clinical significance of polyautoimmunity.

    Science.gov (United States)

    Anaya, Juan-Manuel

    2014-01-01

    Autoimmune diseases (ADs) are chronic and heterogeneous conditions that affect specific target organs or multiple organ systems. The chronic nature of these diseases places a significant burden on the utilization of medical care, direct and indirect economic costs, and quality of life. ADs are observed in genetically susceptible individuals in whom their clinical expression is modified by permissive and protective environments occurring over time. These are complex traits, meaning that their inheritance does not follow a single-gene dominant or single-gene recessive Mendelian law, and thus that they are polygenic. ADs are often diagnosed according to classification criteria, however they share similar subphenotypes including signs and symptoms, non-specific autoantibodies and other immune changes, which are prone to taxonomic problems. Polyautoimmunity is defined as the presence of more than one AD in a single patient. When three or more ADs coexist, this condition is called multiple autoimmune syndrome (MAS), which represents the best example of polyautoimmunity as well as the effect of a single genotype on diverse autoimmune phenotypes. Its study will provide important clues to elucidate the common mechanisms of ADs (i.e., the autoimmune tautology).

  2. Patient exposure in the basic science classroom enhances differential diagnosis formation and clinical decision-making

    Directory of Open Access Journals (Sweden)

    Justin G. Peacock

    2015-02-01

    Full Text Available Purpose. The authors proposed that introducing real patients into a pathology classroom early in medical education would help integrate fundamental principles and disease pathology with clinical presentation and medical history.Methods. Three patients with different pathologies described their history and presentation without revealing their diagnosis. Students were required to submit a differential diagnosis in writing, and then were able to ask questions to arrive at the correct diagnosis. Students were surveyed on the efficacy of patient-based learning.Results. Average student scores on the differential diagnosis assignments significantly improved 32% during the course. From the survey, 72% of students felt that patient encounters should be included in the pathology course next year. Seventy-four percent felt that the differential diagnosis assignments helped them develop clinical decision-making skills. Seventy-three percent felt that the experience helped them know what questions to ask patients. Eighty-six percent felt that they obtained a better understanding of patients’ social and emotional challenges.Discussion. Having students work through the process of differential diagnosis formulation when encountering a real patient and their clinical presentation improved clinical decision-making skills and integrated fundamental concepts with disease pathology during a basic science pathology course.

  3. Patient exposure in the basic science classroom enhances differential diagnosis formation and clinical decision-making.

    Science.gov (United States)

    Peacock, Justin G; Grande, Joseph P

    2015-01-01

    Purpose. The authors proposed that introducing real patients into a pathology classroom early in medical education would help integrate fundamental principles and disease pathology with clinical presentation and medical history. Methods. Three patients with different pathologies described their history and presentation without revealing their diagnosis. Students were required to submit a differential diagnosis in writing, and then were able to ask questions to arrive at the correct diagnosis. Students were surveyed on the efficacy of patient-based learning. Results. Average student scores on the differential diagnosis assignments significantly improved 32% during the course. From the survey, 72% of students felt that patient encounters should be included in the pathology course next year. Seventy-four percent felt that the differential diagnosis assignments helped them develop clinical decision-making skills. Seventy-three percent felt that the experience helped them know what questions to ask patients. Eighty-six percent felt that they obtained a better understanding of patients' social and emotional challenges. Discussion. Having students work through the process of differential diagnosis formulation when encountering a real patient and their clinical presentation improved clinical decision-making skills and integrated fundamental concepts with disease pathology during a basic science pathology course.

  4. Proposed ICDRG Classification of the Clinical Presentation of Contact Allergy

    DEFF Research Database (Denmark)

    Pongpairoj, Korbkarn; Ale, Iris; Andersen, Klaus Ejner

    2016-01-01

    The International Contact Dermatitis Research Group proposes a classification for the clinical presentation of contact allergy. The classification is based primarily on the mode of clinical presentation. The categories are direct exposure/contact dermatitis, mimicking or exacerbation of preexisting....../mucosal symptoms, oral contact dermatitis, erythroderma/exfoliative dermatitis, minor forms of presentation, and extracutaneous manifestations....

  5. Clinical and laboratory diagnosis of dengue fever in travelers

    Directory of Open Access Journals (Sweden)

    N. I. Khokhlova

    2015-01-01

    Full Text Available The paper presents the analysis of clinical and laboratory symptoms in 35 adult patients with denger fever, Novosibirsk residents, which travelled in endemic countries, mostly Tailand. The classic form of the disease was determined in all cases. The moderate form was in 71,5% patients, the severe form was in the rest ones. The diagnosis of dengue was verified by detection of specific immunoglobulin M and in some cases immunoglobulin G and also virus dengue NS1 antigen by immunochromatography. The dominant clinical symptoms in observed patients were fever for 3–8 days (100%, mostly high one (71,4%, asthenia (97,1%, anorexia (100%, myalgia or/and arthralgia (77,1%, exantema (60%, hepatomegaly (62,8%. The gematologic indicators were represented with thrombocytopenia in 91,4% patients (from 167 to 20×109/l и leucopenia in 85,7% patients (from 3,9 to 1,1×109/l. The cytolitic syndrom was revealed in 80% patients with predominance of aspartate aminotransferase activity in early period of the disease. 

  6. [Clinical presentations of Herpes Zoster Ophthalmicus (diagnosis and therapy)].

    Science.gov (United States)

    Chernakova, G M; Kleshcheva, E A; Semenova, T B

    Approximately a quarter of the world's population at some point in life is at risk of developing shingles (Herpes Zoster). In 10-20% of cases the first branch of the trigeminal nerve gets involved (Herpes Zoster Ophthalmicus, HZO). Ophthalmic complications of HZO are able to cause a significant reduction in visual function.

  7. Restless legs syndrome: clinical presentation diagnosis and treatment.

    Science.gov (United States)

    Wijemanne, Subhashie; Jankovic, Joseph

    2015-06-01

    Restless legs syndrome (RLS) is a circadian disorder of sensory-motor integration that may be related to genetically determined dysregulation of iron transport across the blood-brain barrier. Dopamine agonists (DAs) have been considered the first-line therapy, but with the growing appreciation of problems associated with long-term treatment, particularly augmentation and impulse control disorder, alpha-2-delta drugs, such as gabapentin, are now considered the first line of treatment in patients with troublesome RLS. Opioids can be considered as an alternative therapy, particularly in patients with DA-related augmentation. In more severe cases, a combination therapy may be required. Intravenous iron therapy may be considered on those patients with refractory RLS.

  8. Carcinoma lung: Clinical presentation, diagnosis, and its surgical management

    Directory of Open Access Journals (Sweden)

    Farooq Ahmad Ganie

    2013-01-01

    Full Text Available The aim of this article is to review the surgical management of lung carcinoma. Lung cancer is the most common cancer in the world, and a leading cause of death in men and women. By any conventional measure, the enormity of this global problem is immense. In some countries incidence and mortality rates have peaked and are beginning to decline. In many developing nations, the burden of disease is rising and will continue to rise because of aggressive tobacco industry marketing which is leading to a growing prevalence of cigarette smoking. This is also one of the major causes of cancer deaths in our Kashmir valley. The method of literature search was from articles published in PubMed and Google Scholar.

  9. Rapid clinical progression to diagnosis among African-American men with systemic lupus erythematosus.

    Science.gov (United States)

    Arbuckle, M R; James, J A; Dennis, G J; Rubertone, M V; McClain, M T; Kim, X R; Harley, J B

    2003-01-01

    The initial clinical course of systemic lupus erythematosus (SLE) is variable, ranging from relatively minor manifestations progressing over years to rapid onset of fulminate disease. We sought to identify factors associated with the rapid manifestation of SLE. Chart review of military medical records was used to identify 130 patients who met the American College of Rheumatology classification criteria for SLE. Demographics, clinical criteria date of occurrence, and the date of SLE classification (at least four clinical criteria) met were documented. Prospectively stored serum samples prior to the diagnosis were evaluated for SLE autoantibodies. Median time from the first recorded criteria to diagnosis was significantly shorter in African-American (AA) males compared with AA females and European American (EA) females and males combined. AA males were more likely to have nephritis as their first clinical symptom. Also, less time transpired between the first clinical criterion and SLE diagnosis in AA males with nephritis than in other groups presenting with nephritis. Even when cases presenting with nephritis were excluded, a diagnosis of SLE was made more rapidly in AA males. African-American men progress from initial clinical manifestations to SLE diagnosis more rapidly than other ethnic or gender groups.

  10. Integrating Preclinical and Clinical Oral Diagnosis and Radiology.

    Science.gov (United States)

    Rhodus, Nelson L.; Brand, John W.

    1988-01-01

    A program providing second-year dental students with early experience in direct patient contact in an oral diagnosis/oral radiology clinic was well received by both students and faculty and was found to develop desirable skills and qualities in the students participating. (MSE)

  11. Molecular diagnosis in clinical parasitology: when and why?

    Science.gov (United States)

    Wong, Samson S Y; Fung, Kitty S C; Chau, Sandy; Poon, Rosana W S; Wong, Sally C Y; Yuen, Kwok-Yung

    2014-11-01

    Microscopic detection and morphological identification of parasites from clinical specimens are the gold standards for the laboratory diagnosis of parasitic infections. The limitations of such diagnostic assays include insufficient sensitivity and operator dependence. Immunoassays for parasitic antigens are not available for most parasitic infections and have not significantly improved the sensitivity of laboratory detection. Advances in molecular detection by nucleic acid amplification may improve the detection in asymptomatic infections with low parasitic burden. Rapidly accumulating genomic data on parasites allow the design of polymerase chain reaction (PCR) primers directed towards multi-copy gene targets, such as the ribosomal and mitochondrial genes, which further improve the sensitivity. Parasitic cell or its free circulating parasitic DNA can be shed from parasites into blood and excreta which may allow its detection without the whole parasite being present within the portion of clinical sample used for DNA extraction. Multiplex nucleic acid amplification technology allows the simultaneous detection of many parasitic species within a single clinical specimen. In addition to improved sensitivity, nucleic acid amplification with sequencing can help to differentiate different parasitic species at different stages with similar morphology, detect and speciate parasites from fixed histopathological sections and identify anti-parasitic drug resistance. The use of consensus primer and PCR sequencing may even help to identify novel parasitic species. The key limitation of molecular detection is the technological expertise and expense which are usually lacking in the field setting at highly endemic areas. However, such tests can be useful for screening important parasitic infections in asymptomatic patients, donors or recipients coming from endemic areas in the settings of transfusion service or tertiary institutions with transplantation service. Such tests can also

  12. Gallstone ileus obstructing within an incarcerated lumbar hernia: an unusual presentation of a rare diagnosis.

    Science.gov (United States)

    Ziesmann, Markus Tyler; Alotaiby, Nouf; Al Abbasi, Thamer; Rezende-Neto, Joao B

    2014-12-03

    We describe an unusual case of a 74-year-old woman who presented with signs and symptoms of small-bowel obstruction and a clinically appreciable, irreducible, left-sided lumbar hernia associated with previous iliac crest bone graft harvesting. Palpation of the hernia demonstrated a small, firm mass within the loops of herniated bowel. CT scanning recognised an intraluminal gallstone at the transition point, establishing the diagnosis of gallstone ileus within an incarcerated lumbar hernia. The proposed explanatory mechanism is that of a gallstone migrating into an easily reducible hernia containing small bowel causing obstruction at the hernia neck by a ball-valve mechanism, resulting in proximal bowel dilation and thus hernia incarceration; it remains unclear when the stone entered the hernia, and whether it enlarged in situ or prior to entering the enteral tract. This is only the second reported instance in the literature of an intraluminal gallstone causing hernia incarceration.

  13. [Lactose intolerance: pathophysiology, clinical symptoms, diagnosis and treatment].

    Science.gov (United States)

    Hutyra, Tomasz; Iwańczak, Barbara

    2009-02-01

    Lactose malabsorption and milk products intolerance symptoms are the most common alimentary tract disorders. Lactose intolerance is a result of lactase deficiency or lack of lactase and lactose malabsorption. Three types of lactase deficiency were distinguished: congenital, late-onset lactase deficiency and secondary lactase deficiency. Lactose intolerance means the appearance of clinical gastrointestinal symptoms after ingestion of lactose. To the clinical symptoms of lactose intolerance belongs: nausea, vomiting, abdominal distension, cramps, flatulence, flatus, diarrhea and abdominal pain. The diagnosis of lactose intolerance is based on the breath hydrogen test and analysis of lactase activity in the small intestine mucosa. Dietary treatment eliminates clinical symptoms.

  14. Is diagnosis enough to guide interventions in mental health? Using case formulation in clinical practice

    Directory of Open Access Journals (Sweden)

    Macneil Craig A

    2012-09-01

    Full Text Available Abstract While diagnosis has traditionally been viewed as an essential concept in medicine, particularly when selecting treatments, we suggest that the use of diagnosis alone may be limited, particularly within mental health. The concept of clinical case formulation advocates for collaboratively working with patients to identify idiosyncratic aspects of their presentation and select interventions on this basis. Identifying individualized contributing factors, and how these could influence the person's presentation, in addition to attending to personal strengths, may allow the clinician a deeper understanding of a patient, result in a more personalized treatment approach, and potentially provide a better clinical outcome.

  15. Traditional Chinese Medicine Diagnosis and Evaluation of the Clinical Effect in Post-hepatitic Cirrhosis based on Fuzzy Analysis

    Institute of Scientific and Technical Information of China (English)

    ZHANG Hao-wei; ZHU Xun-sheng

    2008-01-01

    In view of the problem of traditional Chinese medicine (TCM) diagnosis, fuzzy comprehensive evaluation is introduced to the diagnosis and evaluation of the clinical effect of hepatitis. A new diagnosis and evaluation model of the TCM clinical effect standard was presented. The old disputed evaluation model by subjective analysis can be displaced by this objective method in its evaluation system. The foundation of this method is the fuzzy diagnosis model. This method has been realized to diagnose hepatitis and its values in practice has been validated through examples of clinical syndromes of post-hepatitic cirrhosis.

  16. ANTIPHOSPHOLIPID SYNDROME: DIAGNOSIS AND CLINICAL MANIFESTATIONS (A LECTURE

    Directory of Open Access Journals (Sweden)

    Tat’yana M Reshetnyak

    2014-01-01

    Full Text Available The lecture provides information about the etiology and pathogenesis of antiphospholipid syndrome (APS and genetic susceptibility to its development. The most recent international diagnostic criteria for APS and its variants have been reported. This syndrome can affect multiple organ systems depending on localization of thrombosis; therefore, nowadays the problem of APS is multidisciplinary. Clinical manifestations of APS are rather general (thrombosis of different localization; thus, the diagnosis can be verified only in the case of presence of antiphospholipid antibodies. The differential diagnosis of APS is discussed.

  17. Consensus of the Present and Prospects on Endoscopic Diagnosis and Treatment in East Asian Countries

    Directory of Open Access Journals (Sweden)

    Takeshi Kamiya

    2012-01-01

    Full Text Available Background and Aim. New diagnostic or therapeutic methods in endoscopy have been used. Current clinical application of these procedures is not well known. The aim of this study is to investigate the present situation on endoscopic diagnosis and treatment of gastrointestinal disorders in East Asian countries. Method. A representative member from the International Gastrointestinal Consensus Symposium Committee provided a questionnaire to physicians in China, Indonesia, Japan, Korea, the Philippines, and Thailand. Results. In total, 514 physicians including gastroenterologists, surgeons, and general practitioners enrolled. The most frequently occurring disorder as the origin of upper gastrointestinal bleeding is gastric ulcer. Capsule endoscopy is selected as the first choice for the diagnosis of small intestine bleeding. The second choice was double-balloon endoscopy or angiography. For patients with gastric adenoma, the number of physicians who choose endoscopic mucosal resection is larger than those selecting endoscopic submucosal dissection (ESD in China, Indonesia, the Philippines, and Thailand. ESD is chosen first in Japan and Korea. Conclusion. New instruments or techniques on endoscopy have not come into wide use yet, and there is diversity in the situation on it in Asian countries. We should unify the endoscopic diagnostic criteria or treated strategy in patients with GI disease.

  18. Interesting clinical presentation of anterior knee pain causing diagnostic dilemma.

    Science.gov (United States)

    Morgan, Samer S; Balasubramanian, S; Teanby, D

    2009-09-01

    A diverse variety of lesions may occasionally occur in the patella. In this case report, we are presenting an interesting case of anterior knee pain in middle aged gentleman. Initial investigations including Magnetic Resonance Imaging not showed any abnormality. Due to prolonged continued pain he had bone scan and MRI, which confirmed the diagnosis of Brodie's abscess. We are presenting this case of Brodie's abscess of the patella causing diagnostic dilemma because of its rarity.

  19. [Clinical guideline for detection and diagnosis of hypertensive pregnancy disease].

    Science.gov (United States)

    Lagunes-Espinosa, Alma Luisa; Ríos-Castillo, Brenda; Peralta-Pedrero, María Luisa; del Rocío Cruz-Cruz, Polita; Sánchez-Ambríz, Slivia; Sánchez-Santana, Joaquín Renato; Ramírez-Mota, Carolina; Zavaleta-Vargas, Norma Octavia; López-Cisneros, Gabriela

    2011-01-01

    Hypertensive disorders in pregnancy (HDP) are the main complication and cause of maternal and perinatal death. Pre-eclampsia represents a 34%, according to the Secretaría de Salud de México. To offer the family physicians tools for the opportune detection and diagnosis of HDP a clinical guideline was developmented. Clinical questions were formulated and structured. A standardized sequence to search for Practice Guidelines, based on the key words: hypertensive disorders in pregnancy, pre-eclampsia. Tripdatabase, MDConsult, National Guideline Clearinghouse, Scottish Intercollegiate Guidelines Network, National Institute for Health and Clinical Excellence were used. In addition, Cochrane Library Plus, Science Direct and OVID were used. Most of the recommendations were taken from guidelines selected and supplemented with the remaining material. The information is expressed in levels of evidence and grade of recommendation according to the characteristics of the study design and type of publications. To reduce morbidity and mortality from HDP health professionals should identify risk factors; conduct a close monitoring and early diagnosis. It is essential to provide information to the pregnant patient on alarm data and behavior to follow. This clinical practice guide offers current evidence for screening and diagnosis of HDP in primary care.

  20. Polyarteritis nodosa presenting with clinical and radiologic features suggestive of polymyositis.

    LENUS (Irish Health Repository)

    Haroon, Muhammad

    2011-02-18

    We report a patient who presented with clinical and MRI findings suggestive of polymyositis but, in whom, muscle biopsy disclosed a strikingly different diagnosis. A 65-year-old woman presented with 3-week history of bilateral proximal muscle pain and weakness. Laboratory investigations showed markedly elevated inflammatory markers and mildly elevated muscle enzymes. MRI scans of lower limbs showed features suggestive of polymyositis. However, muscle biopsy showed features of a polyarteritis-type vasculitis affecting an intramuscular blood vessel. Our reports highlight the critical role of muscle biopsy in establishing the correct diagnosis in patients with suspected myositis.

  1. Polyarteritis nodosa presenting with clinical and radiologic features suggestive of polymyositis.

    Science.gov (United States)

    Haroon, Muhammad; Bermingham, Niamh; Keohane, Catherine; Harney, Sinead

    2012-04-01

    We report a patient who presented with clinical and MRI findings suggestive of polymyositis but, in whom, muscle biopsy disclosed a strikingly different diagnosis. A 65-year-old woman presented with 3-week history of bilateral proximal muscle pain and weakness. Laboratory investigations showed markedly elevated inflammatory markers and mildly elevated muscle enzymes. MRI scans of lower limbs showed features suggestive of polymyositis. However, muscle biopsy showed features of a polyarteritis-type vasculitis affecting an intramuscular blood vessel. Our reports highlight the critical role of muscle biopsy in establishing the correct diagnosis in patients with suspected myositis.

  2. Delay in Presentation, Diagnosis, and Treatment for Breast Cancer Patients in Jordan.

    Science.gov (United States)

    Abu-Helalah, Ahmad Munir; Alshraideh, Ahmad Hussam; Al-Hanaqtah, Mo'tasem; Da'na, Moh'd; Al-Omari, Asim; Mubaidin, Rasmi

    2016-01-01

    Breast cancer is the most common cancer, and one of the leading causes of death for females in Jordan and many countries in the world. Studies have shown that delay in symptoms presentation, diagnosis or treatment would result in poor prognosis. There has been no published study from Jordan on delays in patient presentation, delays in diagnosis, or delays in treatment. Therefore, we conducted this study to assess these important quality indicators aiming to improve prognosis for breast cancer patients in Jordan. This project was a cross-sectional study on female breast cancer patients in Jordan. The total number of participants was 327. The proportion of patients with presentation delay, diagnosis delay, and treatment delay was 32.2%, 49.1%, or 32.4%, respectively. The main reported reasons for delay in presentation were ignorance of the nature of the problem (65.6%), limited/lack of knowledge that symptoms were suggestive of cancer diagnosis (16.7%), and misdiagnosis (16.7%). Predictors of delay and mean time for presentation, diagnosis, and treatment were identified. Our results reveal that breast cancer patients in Jordan are experiencing delays in presentation, diagnosis, and treatment. This could justify the advanced stages at diagnosis and poor outcomes for breast cancer patients in Jordan. We recommend revising the current early detection and down-staging programs in Jordan.

  3. [Presentation of the Department and Clinic of Dermatology and Venereology].

    Science.gov (United States)

    Poljacki, Mirjana; Duran, Verica; Jovanović, Marina; Stojanović, Slobodan

    2007-01-01

    THE DEPARTMENT OF DERMATOVENEROLOGY: The Department of Dermatovenereology was established in 1963, as part of the Department of Internal Medicine with Professor Dimitrije Stanulović as its head. Since 1983, it has been an independent department of the Faculty of Medicine in Novi Sad. DEPARTMENT ACTIVITIES: The Department participates in undergraduate education of medical and dentistry students (serbian and english language), advanced training of graduate students specializing in dermatovenereology, general medicine, urgent and occupational medicine, pediatrics and subspecialists of oncology. During the period 1969-1999, the Department was included in work of the Department of Dermatovenereology of the Faculty of Medicine in Banja Luka. THE DEPARTMENT HISTORY: The Department of Dermatovenereology of the City Hospital in Novi Sad was founded in the 5th decade of the 20th century, and it was situated in Kisacka street, near the railway station. It became an independent institution: Dermatovenereology Clinic in 1963, part of the Clinical Center of Vojvodina in Novi Sad. THE DERMATOVENEREOLOGY CLINIC TODAY: The Dermatovenereology Clinic is a teaching facility, but also an institution for prevention, diagnosis and therapy of skin diseases of adnexal structures (sebaceous and sweat glands, hair, nails) and sexually transmitted diseases. The Clinic works both as an outpatient and an inpatient facility with male and female wings.

  4. Clinical aspects of personality disorder diagnosis in the DSM-5

    OpenAIRE

    Francesco Modica

    2015-01-01

    Abstract: Personality disorders represent psychopathological conditions hard to be diagnosed. The Author highlights the clinical aspects of personality disorder diagnosis according to the criteria of the DSM-5. In this study, some of the numerous definitions of personality are mentioned; afterwards, some of the theories on the development of personality shall be. Later on, concepts of temperament, character and personality get analysed. Then, the current approach to personality disorders acco...

  5. Piriformis syndrome in fibromyalgia: clinical diagnosis and successful treatment.

    Science.gov (United States)

    Siddiq, Md Abu Bakar; Khasru, Moshiur Rahman; Rasker, Johannes J

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

  6. Piriformis Syndrome in Fibromyalgia: Clinical Diagnosis and Successful Treatment

    Directory of Open Access Journals (Sweden)

    Md Abu Bakar Siddiq

    2014-01-01

    Full Text Available Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

  7. [Artificial intelligence to assist clinical diagnosis in medicine].

    Science.gov (United States)

    Lugo-Reyes, Saúl Oswaldo; Maldonado-Colín, Guadalupe; Murata, Chiharu

    2014-01-01

    Medicine is one of the fields of knowledge that would most benefit from a closer interaction with Computer studies and Mathematics by optimizing complex, imperfect processes such as differential diagnosis; this is the domain of Machine Learning, a branch of Artificial Intelligence that builds and studies systems capable of learning from a set of training data, in order to optimize classification and prediction processes. In Mexico during the last few years, progress has been made on the implementation of electronic clinical records, so that the National Institutes of Health already have accumulated a wealth of stored data. For those data to become knowledge, they need to be processed and analyzed through complex statistical methods, as it is already being done in other countries, employing: case-based reasoning, artificial neural networks, Bayesian classifiers, multivariate logistic regression, or support vector machines, among other methodologies; to assist the clinical diagnosis of acute appendicitis, breast cancer and chronic liver disease, among a wide array of maladies. In this review we shift through concepts, antecedents, current examples and methodologies of machine learning-assisted clinical diagnosis.

  8. [Clinical research II. Studying the process (the diagnosis test)].

    Science.gov (United States)

    Talavera, Juan O; Wacher-Rodarte, Niels H; Rivas-Ruiz, Rodolfo

    2011-01-01

    A diagnosis test is carried out to establish the presence of health or illness. In the latter it could grade the severity. Due to its importance in clinical decisions, the diagnosis test is evaluated by mathematical strategies. We estimate the sensitivity and specificity once we know the existence or not of the disease, but we act in the reverse direction; with the presence "X" test positive or negative we estimate the presence of the disease, therefore, we use the positive and negative predictive values. Mathematical strategy allow us to quantify the observation, but it requires judgment to determine the quality making use of a minimum of features: a) selection under the same criteria for cases and controls; b) the inclusion of the full spectrum of disease severity (from mild to the most serious, ensuring that all levels have an enough number of subjects); c) the interpretation of both, the gold standard and the new tool of diagnosis, it must be blind and conducted by experts; d) the interpretation of results should show us what is their application in everyday clinical practice; e) the reproducibility must be checked. Do not forget that usually, we treat only one patient at once, what enforce us to have full knowledge of the performance of the diagnostic test, and to consider all clinical aspects for its proper implementation.

  9. Preoperative diagnosis of pelvic actinomycosis by clinical cytology

    Directory of Open Access Journals (Sweden)

    Matsuda K

    2012-09-01

    Full Text Available Katsuya Matsuda,1 Hisayoshi Nakajima,2 Khaleque N Khan,1 Terumi Tanigawa,1 Daisuke Hamaguchi,1 Michio Kitajima,1 Koichi Hiraki,1 Shingo Moriyama,3 Hideaki Masuzaki11Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, 2Department of Health Sciences, Nagasaki University Graduate School of Biomedical Sciences, 3Shimabara Maternity Clinic, Nagasaki, JapanBackground: The purpose of this work was to investigate whether clinical cytology could be useful in the preoperative diagnosis of pelvic actinomycosis.Methods: This study involved the prospective collection of samples derived from the endometrium and the uterine cervix, and retrospective data analysis. Nine patients with clinically diagnosed pelvic actinomycosis were enrolled. The clinical and hematological characteristics of patients were recorded, and detection of actinomyces was performed by cytology, pathology, and bacteriological culture of samples and by imprint intrauterine contraceptive device (IUD cytology.Results: The detection rate of actinomyces was 77.7% by combined cervical and endometrial cytology, 50.0% by pathology, and 11.1% by bacterial culture.Conclusion: The higher detection rate of actinomyces by cytology than by pathology or bacteriology suggests that careful cytological examination may be clinically useful in the preoperative diagnosis of pelvic actinomycosis.Keywords: actinomycosis, cytology, pathology, intrauterine contraceptive device, pelvic inflammatory disease

  10. Turner Syndrome Genotype and phenotype and their effect on presenting features and timing of Diagnosis

    Science.gov (United States)

    Al Alwan, I; M, Khadora; Amir; G, Nasrat; A, Omair; L, Brown; M, Al Dubayee; M, Badri

    2014-01-01

    Background Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis. Methods We studied females diagnosed with TS at King Abdul Aziz Medical City (KAMC), Riyadh between 1983 and 2010. Patients were classified based upon karyotype into females with classical monosomy 45,X (group A) and females with other X chromosome abnormalities (mosaic 45,X/46,XX, Xqisochromosomes, Xp or Xq deletion) (group B). Clinical features of the two groups were analyzed. Results Of the 52 patients included in the study, 16(30.8%) were diagnosed with classical monosomy 45,X and the rest with other X chromosome abnormalities. Only 19(36.5%) patients were diagnosed in infancy and the remaining during childhood or later (odds ratio (OR) = 4.5,95%CI 1.27–15.90, p=0.02). Short stature was universal in group A versus 77.8% in group B. All patients in group A had primary amenorrhea compared with 63.2% of those in group B (P = 0.04); the rest of group B had secondary amenorrhea. Cardiovascular abnormalities were higher in group A (OR=3.50, 95%CI 0.99–12.29, p-value =0.05). Renal defects and recurrent otitis media were similar in both groups. Conclusion This study suggests that karyotype variations might affect the phenotype of TS; however, it may not reliably predict the clinical presentation. Chromosomal analysis for all suspected cases of TS should be promptly done at childhood in order to design an appropriate management plan early in life. PMID:25246887

  11. Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Mirinae [Dept. of Radiology, Graduate School of Medicine, Kyung Hee University, Seoul (Korea, Republic of); Cho, Nariya; Moon, Hyeong Gon [Seoul National University Hospital, Seoul National University College of Medicine, Seoul (Korea, Republic of); Ahn, Hye Shin [Dept. of Radiology, Chung-Ang University Hospital, Seoul (Korea, Republic of)

    2014-10-15

    Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.

  12. Small bowel capsule endoscopy, a modern tool for celiac disease diagnosis - case presentation

    Directory of Open Access Journals (Sweden)

    Suceveanu Andra Iulia

    2014-05-01

    Full Text Available Celiac disease is a clinically heterogeneous disease characterized by an inadequate immunological response when patients with specific genetic phenotypes are exposed to gluten. This article presents a case of a young woman diagnosed in Gastroenterology Department of “ St. Andrew Apostle” Emergency Hospital of Constanta with celiac disease after multiple admissions into the hospital for unspecific symptoms such as pallor, fatigue, pirosis, weight loss and 1-2 soft stools/day. The history with period irregularities and infertility without a known cause, a recent unexplained bone fracture, the muscle weakness, neuropsychiatric symptoms characterized by sleep disturbances and irritability correlated with the biological features characterized by moderate feriprive anemia, Ca and Mg decreased level, thyroid autoimmune impairment and gastrointestinal symptoms raised the suspicion of an autoimmune disorder with multiple targets. The videcapsule endoscopy (VCE revealed the specific pattern of the celiac disease: villous atrophy of jejunum, scalloping, absent folds and cobblestone mucosal pattern. Results were correlated with immunology tests results. The patient was transferred on a gluten free diet and the clinical and VCE controlsrevealed the healing of the jejunum mucosa. The VCE can be the tool for positive diagnosis of an unusual and heterogeneous celiac disease in patients with various symptoms without an apparent cause.

  13. Children and Youth with Fetal Alcohol Spectrum Disorders: Summary of Intervention Recommendations after Clinical Diagnosis

    Science.gov (United States)

    Jirikowic, Tracy; Gelo, Julie; Astley, Susan

    2010-01-01

    Children with fetal alcohol spectrum disorders (FASDs) present with a wide range of developmental disabilities; however, clinical standards of care after a diagnosis are not well established. This retrospective review summarizes the types of intervention recommendations generated by an interdisciplinary FASD diagnostic team for 120 children ages…

  14. Role of percutaneous needle core biopsy in diagnosis and clinical management of renal masses.

    Science.gov (United States)

    Hu, Rong; Montemayor-Garcia, Celina; Das, Kasturi

    2015-04-01

    Percutaneous needle core biopsies are routinely performed for renal mass diagnosis in some institutions. Because of limited tissue availability, accurate diagnosis can be challenging, and the role of needle core biopsy (NCB) remains debatable in kidney tumor management. In the present study, we reported our experience in diagnosing renal masses via percutaneous NCB and the role it plays in clinical management of these masses. We studied 301 consecutive cases of percutaneous NCBs performed for 280 renal masses from 269 patients between year 2008 and 2011 by reviewing final pathology diagnosis, hematoxylin and eosin slides, and ancillary studies. Diagnostic accuracy was determined by comparing biopsy and nephrectomy diagnoses in a subset of renal masses. Clinical data including demographic information, clinical presentation, radiographic findings, and treatment information were reviewed subsequently if available. The size of renal masses in our study cohort ranged from 0.5 to 24 cm, and 78% of them were small renal masses. Definite diagnoses were rendered in 89% of the renal masses by NCBs, and 23% of them were benign. Renal mass NCB was 100% accurate in diagnosing primary renal malignancy and 93% accurate in determining histologic subtypes. Clinical management was analyzed for 180 renal masses. There was significant difference in clinical management between different diagnostic groups. We conclude that percutaneous NCB is a powerful tool not only for definite tissue diagnosis of renal masses before treatment but also plays an important role in guiding patient management and obtaining material for future molecular studies for targeted therapies.

  15. Catatonia as presenting clinical feature of subacute sclerosing panencephalitis

    Directory of Open Access Journals (Sweden)

    Prabhoo Dayal

    2014-01-01

    Full Text Available Catatonia is not a usual clinical presentation of subacute sclerosing panencephalitis (SSPE, especially in the initial stages of illness. However, there is only one reported case of SSPE presenting as catatonia among children. In this report, however, there were SSPE-specific changes on EEG and the catatonia failed to respond to lorazepam. We describe a case of SSPE in a child presenting as catatonia that presented with clinical features of catatonia and did not have typical EEG findings when assessed at first contact. He responded to lorazepam and EEG changes emerged during the course of follow-up.

  16. AMELANOTIC MELANOMA WITH ATYPICAL CLINICAL PRESENTATION AND MULTIPLE METASTASIS

    Directory of Open Access Journals (Sweden)

    Revathy

    2014-11-01

    Full Text Available A 52 year old woman presented with a history of asymptomatic skin lesions over left leg for the past 4 months. On examination she had multiple skin coloured papules and plaques over left leg. Oedema was also seen over left leg. Histopathology and immunohistochemistry proved the diagnosis of malignant melanoma. Radiological investigation showed metastasis to lung, liver and brain. The patient was asymptomatic at the time of admission but she developed rapid metastasis within a very short span of time. This case is reported for the rare atypical presentation of malignant melanoma.

  17. Actinomycosis: etiology, clinical features, diagnosis, treatment, and management

    Directory of Open Access Journals (Sweden)

    Valour F

    2014-07-01

    Full Text Available Florent Valour,1–3 Agathe Sénéchal,1,2 Céline Dupieux,2–4 Judith Karsenty,1,2 Sébastien Lustig,2,5 Pierre Breton,2,6 Arnaud Gleizal,2,7 Loïc Boussel,2,8,9 Frédéric Laurent,2–4 Evelyne Braun,1 Christian Chidiac,1–3 Florence Ader,1–3 Tristan Ferry1–3 1Service des Maladies Infectieuses et Tropicales, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France; 2Université Claude Bernard Lyon 1, Lyon, France; 3Centre International de Recherche en Infectiologie, CIRI, INSERM U1111, CNRS UMR5308, ENS de Lyon, UCBL1, Lyon, France; 4Laboratoire de Bactériologie, Centre de Biologie du Nord, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France; 5Chirurgie Orthopédique, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France; 6Stomatologie et Chirurgie Maxillo-faciale, Hospices Civils de Lyon, Groupement Hospitalier Sud, Lyon, France; 7Chirurgie Maxillo-faciale, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France; 8Radiologie, Hospices Civils de Lyon, Groupement Hospitalier Nord, Lyon, France; 9Creatis, CNRS UMR 5220, INSERM U1044, Université Lyon 1, INSA Lyon, Lyon, France Abstract: Actinomycosis is a rare chronic disease caused by Actinomyces spp., anaerobic Gram-positive bacteria that normally colonize the human mouth and digestive and genital tracts. Physicians must be aware of typical clinical presentations (such as cervicofacial actinomycosis following dental focus of infection, pelvic actinomycosis in women with an intrauterine device, and pulmonary actinomycosis in smokers with poor dental hygiene, but also that actinomycosis may mimic the malignancy process in various anatomical sites. Bacterial cultures and pathology are the cornerstone of diagnosis, but particular conditions are required in order to get the correct diagnosis. Prolonged bacterial cultures in anaerobic conditions are necessary to identify the bacterium and typical microscopic findings include necrosis with

  18. Pre-Hospital Fast Positive Cases Identified by DFB Ambulance Paramedics – Final Clinical Diagnosis

    LENUS (Irish Health Repository)

    Feeney, A

    2016-04-01

    Ischaemic stroke clinical outcomes are improved by earlier treatment with intravenous thrombolysis. An existing pathway at the Mater University Hospital for assessment of suspected acute stroke in the Emergency Department was updated, aiming to shorten ‘door to needle time’. This study examines the final clinical diagnosis of Dublin Fire Brigade Ambulance Paramedic identified Face Arm Speech Test (FAST) positive patients presenting to the Emergency Department over a 7 month period. A retrospective analysis was carried out of 177 consecutive FAST positive patients presenting between March and November 2014. The final clinical diagnosis was acute stroke in 57.1% (n=101) of patients. Of these, 76 were ischaemic strokes of whom 56.5% (n=43) were thrombolysed. In the pre-hospital setting Ambulance Paramedics can identify, with reasonable accuracy, acute stroke using the FAST test. Over half of the ischaemic stroke patients presenting via this pathway can be treated with intravenous thrombolysis

  19. Evidence-based diagnosis and clinical decision making

    NARCIS (Netherlands)

    Mileman, P.A.; van den Hout, W.B.

    2009-01-01

    The application of evidence-based dentistry to diagnosis should result in a reduction of errors in decision making. The frequency of errors is dependent not only on the accuracy of a diagnostic test for pathology, but also on the prior chance of disease being present. If this chance is low and below

  20. Clinical relevance of molecular diagnosis in pet allergy.

    Science.gov (United States)

    Uriarte, S A; Sastre, J

    2016-07-01

    We describe the pattern of sensitisation to pet IgE components and its association with clinical symptoms. Hundred and fifty nine consecutive patients with rhinitis/asthma sensitised to dog, cat, and horse were recruited. Specific IgE to whole extracts and to pet recombinant allergens were performed. Only 5% of patients were monosensitised to animal allergens. Specific IgE to Can f 1 was significantly associated with persistent rhinitis, Can f 2 with asthma diagnosis, Can f 3 with moderate/severe rhinitis (M/S-R) and asthma diagnosis (AD), and Can f 5 with persistent and M/S-R. Positive IgE to Fel d 2 was significantly associated with M/S-R and AD, Equ c 1 with M/S-R and Equ c 3 with persistent rhinitis, AD and severe asthma. Sensitisation to ≥2 molecules or to pet albumins was associated with more severe respiratory symptoms. Molecular diagnosis in patients with pet allergy may also help clinicians to predict clinical symptoms and their severity.

  1. To evaluate the efficacy of ultrasonography compared to clinical diagnosis, radiography and histopathological findings in the diagnosis of maxillofacial swellings

    Energy Technology Data Exchange (ETDEWEB)

    Pallagatti, Shambulingappa, E-mail: dr.shambulingappa@gmail.com [Department of Oral Medicine and Radiology, M.M. College of Dental Sciences and Research, Mullana, Ambala, Haryana (India); Sheikh, Soheyl; Puri, Nidhi; Mittal, Amit; Singh, Balwinder [Department of Oral Medicine and Radiology, M.M. College of Dental Sciences and Research, Mullana, Ambala, Haryana (India)

    2012-08-15

    Aim: To evaluate the efficacy of Ultrasonography compared to clinical diagnosis, radiography and histopathological findings in the diagnosis of maxillofacial swellings. Material and methods: The study was conducted on forty-five patients with maxillofacial swellings. The clinical diagnosis, radiographic diagnosis and ultrasonographic diagnosis were made which was compared to the histopathological diagnosis. The maxillofacial swellings included cystic lesions, benign swellings, malignant swellings, lymphadenopathies and abscesses and space infections. Results: The diagnostic accuracy and contingency coefficient was evaluated considering histopathology as gold standard. The diagnostic accuracy of ultrasound was found to be 92.30% in the diagnosis of cystic lesions, 87.5% in benign tumors, 81.8% in malignant tumors, 100% in lymphadenopathies and 90% in space infections and abscesses. The contingency coefficient of 0.934 was obtained when ultrasonography was compared to the histopathology, which was highly significant. Similar significant results were obtained comparing ultrasonography with clinical diagnosis (0.895) and radiographic diagnosis (0.889). Conclusion: Ultrasonography provides accurate imaging of the head and neck region and provides information about the nature of the lesion, its extent, and relationship with the surrounding structures. As the conventional and digital radiography enable the diagnosis of the presence of the disease, but do not give any indication of its nature. So, together with clinical and histopathological examinations, real time ultrasound imaging works out as a valuable adjunct in the diagnosis of orofacial swellings.

  2. [Multi-facetted clinical presentation of thrombotic thrombocytopenic purpura

    DEFF Research Database (Denmark)

    Niemann, C.U.; Jurlander, J.; Daugaard, G.

    2009-01-01

    smears. Determination of the ADAMTS13-activity is now becoming available as a routine analysis. We present two cases that illustrate the multi-facetted clinical presentation under which TTP occurs. The importance of access to ADAMTS13 measurements is stressed Udgivelsesdato: 2009/1/26...

  3. Clinical presentation and management of diabetes mellitus in pregnancy

    Directory of Open Access Journals (Sweden)

    Al-Azemi N

    2013-12-01

    Full Text Available Nasser Al-Azemi,1 Michael F Diejomaoh,1,2 Elisavet Angelaki,1 Asiya T Mohammed2 1Maternity Hospital, Shuwaikh, Kuwait; 2Department of Obstetrics and Gynecology, Faculty of Medicine, Kuwait University, Safat, Kuwait Objective: To evaluate the clinical presentation, management, and the outcome of diabetes mellitus in pregnancy. Methods: One hundred seventy-one patients with diabetes mellitus admitted between September 1, 2006, and June 30, 2008, to the labor room at Maternity Hospital in Kuwait for induction of labor made up the study population; while an equivalent number of patients without medical complications who also were admitted for induction of labor made up the control group. The patients were assessed at admission, and their medical data were extracted. The study and control patients were monitored through labor/puerperium, and the outcome was documented. Results: Gestational diabetes mellitus was diagnosed in 71.9% of the study patients, a past history of diabetes mellitus was recorded in 81.34% of the study patients, and 49.2% of the patients were admitted at 8–12 weeks of gestation for diabetic control. The mean weight gained in pregnancy was significantly higher for control patients (11.52±5.643 versus [vs] 9.90±5.757 kg/m2; P<0.009, and the body mass index of study patients was higher (32.00±6.160 vs 28.20±5.885 kg/m2; P<0.0001. Of the study population, 64.3% of the patients were managed with diet and increased physical activity and 35.7% with insulin, diet, and increased physical activity. The incidences of maternal morbidity in both study and control groups were comparable, and the incidence of preeclampsia was low, at 2.3%. The gestational age at delivery was higher in the control group (39.02±1.834 weeks vs 38.62±1.773 weeks; P<0.0001, and the percentage of cesarean deliveries was higher in the study population (44.4% vs 33.3%; P=0.046. The Apgar scores of the both groups were comparable and in the normal range, and the

  4. Clinical aspects of personality disorder diagnosis in the DSM-5

    Directory of Open Access Journals (Sweden)

    Francesco Modica

    2015-05-01

    Full Text Available Abstract: Personality disorders represent psychopathological conditions hard to be diagnosed. The Author highlights the clinical aspects of personality disorder diagnosis according to the criteria of the DSM-5. In this study, some of the numerous definitions of personality are mentioned; afterwards, some of the theories on the development of personality shall be. Later on, concepts of temperament, character and personality get analysed. Then, the current approach to personality disorders according to the two models of DSM-5 is reported. The first model is included in the Section II of DSM-5; while in the Section III there exists a proposal for a so-called alternate model. The first one suggests a qualitative or categorical kind of approach to personality disorders, whereas the alternate model proposes a dimensional or quantitative kind of approach and aims to formulate, as well as a diagnosis for general alterations of the personological functioning, even a trait-based personality disorder diagnosis, which can be formulated when a personality disorder is there but doesn't fit criteria for a specific disorder. Ultimately, it can be so claimed: 1 diagnostic criteria of the first model are similar to those of DSM-IV with its respective strenghts and weaknesses, and namely high probability in diagnosis, where  there, of personality disorder, yet insufficient sensitivity in the specification of the disorder; 2 the alternate model, despite criticism, thanks to the possibility of delivering a trait-based personality disorder diagnosis, seems to be more equipped both in the identification of the personality disorder and further specifications.

  5. Pertussis: clinical and bacteriological diagnosis of six cases

    Directory of Open Access Journals (Sweden)

    Arellano Penagos Mario

    2014-07-01

    Full Text Available ertussis is an endemic disease in our population. Every 3 to 4 years, pertussis has an epidemic pattern even in countries with good health conditions. Antipertussis vaccine first dose is adminis- tered at the age of 2 months; a second and third dose are given at 4 and 6 months of age. This vaccine has an 8 to 10 year protective effect, for which reason it is suggested that pregnant women in the third trimester should be vaccinated in order to prevent pertussis in newborns. It should also be administered to older people to avoid turning them into asymptomatic carriers. Clinic manifestations are easily identifiable due to respiratory symptoms, especially to the particular characteristics of the cough. The diagnosis is supported by the presence of leukocytosis (predominantly lymphocytes and by certain thoracic radiologic findings. The diagnosis is confirmed with a positive culture for Bordetella pertussis or with a polymerase chain reaction (PCR. In a non complicated clinic course macrolides are still the best therapeutic choice. Nonetheless clinic observation is highly recom- mended in order to avoid complications. Redefinition of vaccine programs against Bordetella pertussis in Mexican population is recommended and also to notify the presence of the disease to the corresponding health authorities.

  6. Bilaterally enlarged parotids and sicca symptoms as a presentation of sarcoidosis: Pivotal role of aspiration cytology in diagnosis

    Directory of Open Access Journals (Sweden)

    Tanya Sharma

    2015-01-01

    Full Text Available Sarcoidosis is a chronic multisystem inflammatory disease of unknown etiology characterized by widespread noncaseating granulomas in various organs. The diagnosis of sarcoidosis is based on cytological, clinicolaboratory, and radiological findings, and requires careful exclusion of other granulomatous diseases especially tuberculosis. Involvement of parotid glands is uncommon. Presentation of sarcoidosis with sicca symptoms that include dryness of eyes and mouth is an even rarer phenomenon. We present a case of multisystemic sarcoidosis presenting with dryness of eyes and mouth along with bilateral enlargement of parotid glands. Fine-needle aspiration cytology (FNAC smears showed epithelioid cell granulomas and multinucleate giant cells. Stain for acid-fast bacilli was negative. Careful cytological examination revealed crystalline structures inside the giant cells, which prompted us to evaluate the patient for sarcoidosis. This case report highlights the cytological features that can be useful in clinching the diagnosis of sarcoidosis in conjunction with clinicoradiological and laboratory findings in a clinically unusual case.

  7. The differential diagnosis of multiple sclerosis: classification and clinical features of relapsing and progressive neurological syndromes.

    Science.gov (United States)

    Trojano, M; Paolicelli, D

    2001-11-01

    In the absence of pathognomonic clinical features or a definitive laboratory test, multiple sclerosis (MS) remains ultimately a diagnosis of exclusion. Accurate diagnosis is increasingly important with available disease modifying therapy. Unfortunately the rate of misdiagnosis remains around 5%-10%, indicating that 1 in 20 patients thought to have MS has, instead, a condition resembling MS. In this review we describe conditions that may be confused with MS because they can present as lesions disseminated in time, space, or both. Conditions often confused with MS may be inflammatory (systemic lupus erythematosus, Sjögren's syndrome, vasculitis, sarcoidosis, Behçet's disease), infectious (Lyme disease, syphilis, progressive multifocal leukoencephalopathy, HTLV-1 infection, herpes zoster), genetic (lysosomal disorders, adrenoleukodystrophy, mitochondrial disorders, CADASIL), metabolic (vitamin B12 deficiency), neoplastic (CNS lymphoma) and spinal (degenerative and vascular malformations) diseases. The key to the accurate diagnosis of MS is vigilance for atypical features, suggesting the possibility of an alternative diagnosis.

  8. Agminated Fibroblastic Conective Tissue Nevus: A New Clinical Presentation.

    Science.gov (United States)

    Downey, Camila; Requena, Luis; Bagué, Silvia; Sánchez Martínez, Miquel Ángel; Lloreta, Josep; Baselga, Eulalia

    2016-07-01

    Connective tissue nevi are benign hamartomatous lesions in which one or several of the components of the dermis (collagen, elastin, glicosaminoglycans) show predominance or depletion. Recently, de Feraudy et al broadened the spectrum of connective tissue nevus, describing fibroblastic connective tissue nevus (FCTN), which is characterized by proliferation of CD34(+) cells of fibroblastic and myofibroblastic lineage. Only solitary papules and nodules have been described. We present the first case of FCTN with multiple agminated lesions on the leg of an infant and the difficulties encountered in the differential diagnosis with dermatofibrosarcoma protuberans.

  9. Clinical evaluation of cytological diagnosis of nasopharyngeal malignancies.

    Science.gov (United States)

    Molinari, R; Pilotti, S; Rilke, F

    1978-01-01

    Between 1970 and 1975 cytological examination was applied to the diagnosis of nasopharyngeal malignancies in a series of 216 consecutive patients who had either a tumour in the nasopharynx or clinical signs of nasopharyngeal carcinoma, or who were locally asymptomatic but had enlarged cervical lymph nodes. Smears were taken by introducing a small rough pad of compressed gauze through the mouth into the nasopharynx with an upward-angled forceps. In each case the cytological smear was taken immediately before biopsy; often, a lymph node was removed subsequently. When morphological diagnoses were doubtful and histological findings were at variance with positive cytological findings, the patients were reexamined clinically, and diagnosis was postponed. The case material was made up of 90 nasopharyngeal carcinomas, 24 lymphomas, one malignant melanoma, one adenoid cystic carcinoma and 100 patients without malignancies. Cytological findings from the first smear were positive in 77.8% of nasopharyngeal carcinomas, in 66.6% of lymphomas and in the cases of melanoma and adenoid cystic carcinoma. There were no false-positive results. When the nasopharyngeal carcinomas were subdivided into undifferentiated carcinomas of the nasopharyngeal type and squamous-cell carcinomas, cytological findings were positive in ,0% and 73%, respectively. Positivity of histological findings was distributed as follows: 91.7% for malignant lymphomas, 86.6% for undifferentiated carcinomas and 86.6% for squamous-cell carcinomas. With respect to clinical suspicion of malignancy, positive cytological findings were obtained in 50% of clinically occult cases and in 84.6% of patients with obvious malignancies; intermediate figures were found for clinically doubtful (64.3%) and for highly suspicious (77.8%) cases. Cyto-histological concordance was shown in 70% of cases; false-negative histological results were obtained in 7.8% and false-negative cytological results in 16.6% of cases. Combined cyto

  10. Clinical Presentation of Chiari I Malformation and Syringomyelia in Children.

    Science.gov (United States)

    Pindrik, Jonathan; Johnston, James M

    2015-10-01

    Chiari I malformation and syringomyelia may be associated with a wide spectrum of symptoms and signs in children. Clinical presentations vary based on patient age and relative frequency; some diagnoses represent incidental radiographic findings. Occipitocervical pain, propagated or intensified by Valsalva maneuvers (or generalized irritability in younger patients unable to communicate verbally), and syringomyelia with or without scoliosis are the most common clinical presentations. Cranial nerve or brainstem dysfunction also may be observed in younger patients, and is associated with more complex deformity that includes ventral compression secondary to basilar invagination, retroflexion of the dens, and/or craniocervical instability.

  11. Acute disseminated encephalomyelitis in children: differential diagnosis from multiple sclerosis on the basis of clinical course

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    Yun Jin Lee

    2011-06-01

    Full Text Available Acute disseminated encephalomyelitis (ADEM is a demyelinating disease of the central nervous system (CNS that typically presents as a monophasic disorder associated with multifocal neurologic symptoms and encephalopathy. ADEM is considered an autoimmune disorder that is triggered by an environmental stimulus in genetically susceptible individuals. The diagnosis of ADEM is based on clinical and radiological features. Most children with ADEM initially present with fever, meningeal signs, and acute encephalopathy. The level of consciousness ranges from lethargy to frank coma. Deep and subcortical white-matter lesions and gray-matter lesions such as thalami and basal ganglia on magnetic resonance imaging (MRI are associated with ADEM. In a child who presents with signs of encephalitis, bacterial and viral meningitis or encephalitis must be ruled out. Sequential MRI is required to confirm the diagnosis of ADEM, as relapses with the appearance of new lesions on MRI may suggest either multiphasic ADEM or multiple sclerosis (MS. Pediatric MS, defined as onset of MS before the age of 16, is being increasingly recognized. MS is characterized by recurrent episodes of demyelination in the CNS separated in space and time. The McDonald criteria for diagnosis of MS include evidence from MRI and allow the clinician to make a diagnosis of clinically definite MS on the basis of the interval preceding the development of new white matter lesions, even in the absence of new clinical findings. The most important alternative diagnosis to MS is ADEM. At the initial presentation, the 2 disorders cannot be distinguished with certainty. Therefore, prolonged follow-up is needed to establish a diagnosis.

  12. Lack of clinicopathologic correlation in the diagnosis of oral lichen planus based on the presently available diagnostic criteria and suggestions for modifications.

    NARCIS (Netherlands)

    Meij, van der E.H.; Waal, van der I.

    2003-01-01

    INTRODUCTION: Confirmation of a clinical diagnosis of oral lichen planus (OLP) by means of histopathologic study of a biopsy specimen is generally advised. However, hardly any data exist about the correlation between clinical and histopathologic diagnoses of OLP. The aim of the present investigation

  13. [Clinical Pathological Diagnosis, and Treatment for Pleural Mesothelioma].

    Science.gov (United States)

    Kishimoto, Takumi; Fujimoto, Nobukazu; Nishi, Hideyuki

    2016-05-01

    For the differential diagnosis between fibrous pleuritis and other malignancies such as lung cancer, multiple immunostaining is essential to diagnose pleural mesothelioma. For cytological diagnosis of pleural effusions, differentiation between mesothelioma cells and reactive mesothelial cells is very difficult. Therefore, histological diagnoses of tumor tissues obtained via biopsy are essential. To diagnose epthelioid mesothelioma, more than 2 positive and negative markers must be consistent with those known for mesothelioma. To diagnose sarcomatoid mesothelioma, keratin is usually positive, differentiating the diagnosis from that for real sarcoma. For surgical treatment for pleural mesothelioma, extrapleural pneumonectomy (EPP) and pleurectomy/decortication (P/D) are usually performed. The proportion of P/D increases because of the low death rates with surgery and similar survivals. However, a trimodal approach, such as EPP with chemotherapy and radiotherapy, is best for longer survival and expected to be curative. For chemotherapy, only cisplatin (CDDP) combined with pemetrexed (PEM) is effective, and no other agents have been identified for this disease. Nowadays, clinical immunotherapy trials start with phase II study.

  14. Chronic pelvic ischemia: etiology, pathogenesis, clinical presentation and management.

    Science.gov (United States)

    Kapoor, H; Gupta, E; Sood, A

    2014-06-01

    Overactive bladder (OAB) and bladder pain syndrome (BPS) although common, are vaguely defined and difficult to diagnose and manage etiologies of storage-type lower urinary tract symptoms (LUTS). The lack of optimal management options is a direct consequence of deficient understanding of the pathophysiologic mechanisms underlying these conditions. These conditions are especially prevalent in females, and cumulative contemporary epidemiological, clinical and laboratory evidence implicates ischemia as one of the key players in the pathophysiologic foundation of both these disorders. Taken together they make up "the" diagnostic as well as therapeutic black-hole in urologic practice. Much akin to chronic ischemic heart disease, chronic ischemia-reperfusion has been shown to cause degenerative changes at cellular and subcellular level in the bladder mucosa, smooth muscle fibers, and vesical neural and microvascular structures leading to a hypersensitive, hyperactive bladder initially, which with time invariably progresses into a failed, fibrotic and pressurized bladder. Diagnosis and management of these diseases are currently symptom focused and remains a source of much frustration. Consideration of role of ischemia connotates hope and could lead to a paradigm shift in the management of these patients with a completely new therapeutic armamentarium attacking the pathology itself. The aim of the current review is to provide a clinical thought perspective on the etiology/pathophysiology of chronic pelvic ischemia and its role as a precursor to the aforementioned conditions, and shed some light upon the potential management strategies to consider.

  15. Glucose: archetypal biomarker in diabetes diagnosis, clinical management and research.

    Science.gov (United States)

    Krentz, Andrew J; Hompesch, Marcus

    2016-10-13

    The clinical utility of diabetes biomarkers can be considered in terms of diagnosis, management and prediction of long-term vascular complications. Glucose satisfies all of these requirements. Thresholds of hyperglycemia diagnostic of diabetes reflect inflections that confer a risk of developing long-term microvascular complications. Degrees of hyperglycemia (impaired fasting glucose, impaired glucose tolerance) that lie below the diagnostic threshold for diabetes identify individuals at risk of progression to diabetes and/or development of atherothrombotic cardiovascular disease. Self-measured glucose levels usefully complement hemoglobin A1c levels to guide daily management decisions. Continuous glucose monitoring provides detailed real-time data that is of value in clinical decision making, assessing response to new diabetes drugs and the development of closed-loop artificial pancreas technology.

  16. Role of organic volatile profiles in clinical diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Zlatkis, A. (Univ. of Houston, TX); Brazell, R.S.; Poole, C.F.

    1981-06-01

    The organic volatile constituents of biological fluids contain clinically useful diagnostic information for the recognition of metabolic disorders in man. To gain access to this information, it was necessary to develop the methodology for reproducibly stripping the trace concentrations of volatiles from biological fluids (dynamic headspace, gas phase-stripping, solvent extraction, and the transevaporator technique), to separate the complex extracts by high-resolution capillary column gas chromatography, and to develop computer-aided data-handling and pattern-recognition techniques for analyzing the immense amount of information generated. The normal and pathological organic volatiles identified by gas chromatography-mass spectrometry in urine, serum, and breast milk are tabulated. Clinical applications of the above techniques to the study and diagnosis of diabetes mellitus, respiratory virus infection, renal insufficiency, and cancer are described.

  17. Clinical presentation and functional prognosis in syndrome X.

    OpenAIRE

    Chauhan, A; Mullins, P A; Thuraisingham, S I; Petch, M C; Schofield, P. M.

    1993-01-01

    OBJECTIVES--To assess the effect of clinical presentation on functional prognosis in patients with syndrome X. DESIGN--A prospective study. Patients with syndrome X presenting with unstable angina and stable angina were followed up with a questionnaire to examine their functional state. PATIENTS--41 patients with syndrome X and unstable angina and 41 patients with syndrome X and stable angina. Syndrome X was defined as typical anginal chest pain, a positive exercise test, and normal coronary ...

  18. Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

    Directory of Open Access Journals (Sweden)

    Ozyurt Abdullah

    2015-06-01

    Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

  19. Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features

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    Sira Korpaisarn

    2013-01-01

    Full Text Available We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.

  20. Diagnosis and clinical features of trigemino-autonomic headaches.

    Science.gov (United States)

    May, Arne

    2013-10-01

    Although severe short-lasting headaches are rare, they can be considered disabling conditions with a major impact on the quality of life of patients. These headaches can divided broadly in to those associated with autonomic symptoms, so called trigeminal autonomic cephalgias (TACs), and those with few or no autonomic symptoms. The TACs include cluster headache, paroxysmal hemicranias, hemicrania continua, and short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms as well as short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome. In all of these syndromes, half-sided head pain and ipsilateral cranial autonomic symptoms such as lacrimation or rhinorrhea are prominent. The paroxysmal hemicranias have, unlike cluster headaches, a very robust response to indomethacin, leading to a notion of indomethacin-sensitive headaches. The diagnosis of TACs is exclusively a clinical task. Because of the fact that cluster headache is strictly half-sided, typically involves the region around the eye and temple and often starts in the upper jaw, most patients first consult a dentist or ophthalmologist. No single instrumental examination has yet been able to define, or ensure, the correct diagnosis, or differentiate idiopathic headache syndromes. It is crucial that a trained neurologist sees these patients early so that management can be optimized and unnecessary procedures can be avoided. Although TACS are, in comparison to migraine, quite rare, they are nevertheless clinically very important for the neurologist to consider as they are easy to diagnose and the treatment is very effective in most patients.

  1. Interesting and unusual clinical presentations in leprosy at a referral center

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    Pritam U Tayshetye

    2013-01-01

    Full Text Available Background: Leprosy is a disease of declining global endemicity but is still an important health-care problem in India. Pure neural leprosy is an important subset of presentations of leprosy in India. Leprosy is a known disease of the skin and nerves, but cases of pure neural involvement are relatively less. We hereby present 10 cases of pure neural leprosy in which the diagnosis of leprosy was difficult with routine methods. Materials and Methods: The study was conducted at the main referral center and satellite clinics of our organization. A retrospective analysis of patient records for the last four years was undertaken to identify patients presenting with predominantly neurological manifestations and uncommon presentations including those without skin lesions. The medical records of the patients were used as source of data. All the patients were subjected to a detailed clinical examination and bacteriological examination with slit-skin smears. Investigations like nerve biopsy, electromyography, and nerve conduction studies were done in patients with diagnostic difficulties. Results: Patients presented with neurological symptoms like paresthesias (60%, diminished sensations (40%, nonhealing ulcers (30%, and blisters (20%. All except one had thickened nerves on clinical examination. Slit-skin smear was negative in all but one patient. Nerve biopsy confirmed the diagnosis of leprosy in seven cases. Conclusion: Pure neural leprosy is difficult to diagnose with routine methods. The diagnosis should be considered, especially by neurologists and dermatologists, who are more likely to see such patients with predominant neural manifestations. The diagnosis should be confirmed with nerve biopsy to prevent delay in therapy and associated complications.

  2. Clinical application of fluorescence in situ hybridization for prenatal diagnosis

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    Shu-fang JIANG

    2012-07-01

    Full Text Available Objective To establish and optimize the procedures of fluorescence in situ hybridization(FISH), and evaluate its clinical value in rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. Methods Amniotic fluid or fetal blood was sampled by routine invasive procedures. After the amniotic fluid cells or fetal blood cells were separated and sequentially processed with hypotonic solution, fixation solution, smear and high temperature, they were hybridized in situ with two panels of specific fluorescence probes to detect numerical abnormality of chromosomes 21, 18, 13, X, Y. All the samples were also cultured and analyzed for their karyotype by conventional methods. Results When it was used as a diagnostic criterion of chromosomal number that the fluorescence signals were observed in ≥90% cells, GLP 13/GLP 21 probe panel showed 2 green/2 red fluorescence signals and CSP18/CSP X/CSP Y probe panel showed 2 blue/2 yellow (female or 2 blue/1 yellow/1 red fluorescence signals (male under normal condition. The test reports of all 196 cases were sent out in 72-96 hours, and 7 cases of Down syndrome, 2 cases of trisomy 18 and 1 case of sex chromosomal numerical abnormality were detected, which were accordant with karyotype analysis results reported one month later. Conclusions FISH has potential for clinical application, and is applicable to rapid prenatal diagnosis of fetal numerical abnormality of chromosomes 21, 18, 13, X, Y. The rapid FISH, together with conventional karyotyping, offer a valuable means for prenatal diagnosis of fetal aneuploidies.

  3. Information search and information distortion in the diagnosis of an ambiguous presentation

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    Olga Kostopoulou

    2009-08-01

    Full Text Available Physicians often encounter diagnostic problems with ambiguous and conflicting features. What are they likely to do in such situations? We presented a diagnostic scenario to 84 family physicians and traced their information gathering, diagnoses and management. The scenario contained an ambiguous feature, while the other features supported either a cardiac or a musculoskeletal diagnosis. Due to the risk of death, the cardiac diagnosis should be considered and managed appropriately. Forty-seven participants (56\\% gave only a musculoskeletal diagnosis and 45 of them managed the patient inappropriately (sent him home with painkillers. They elicited less information and spent less time on the scenario than those who diagnosed a cardiac cause. No feedback was provided to participants. Stimulated recall with 52 of the physicians revealed differences in the way that the same information was interpreted as a function of the final diagnosis. The musculoskeletal group denigrated important cues, making them coherent with their representation of a pulled muscle, whilst the cardiac group saw them as evidence for a cardiac problem. Most physicians indicated that they were fairly or very certain about their diagnosis. The observed behaviours can be described as coherence-based reasoning, whereby an emerging judgment influences the evaluation of incoming information, so that confident judgments can be achieved even with ambiguous, uncertain and conflicting information. The role of coherence-based reasoning in medical diagnosis and diagnostic error needs to be systematically examined.

  4. [Mucosecretor adenocarcinoma of the lung with pleural involvement presenting as a pneumothorax. Presentation of a clinical case].

    Science.gov (United States)

    Hermida Pérez, J A; Hernández Guerra, J S; Bermejo Hernandez, Á; Sobenes Gutierrez, R J

    2013-10-01

    The combination of a pneumothorax and lung cancer is rare and diagnosis is complex. Clinical suspicion of cancer must be based on radiological findings and the existence of risk factors. We discuss the mechanisms involved in the development of pneumothorax in patients with lung cancer, as well as the clinical significance, the recommended diagnostic approach, and therapeutic guidelines.

  5. Clinical practice: the diagnosis of imported malaria in children.

    Science.gov (United States)

    Maltha, Jessica; Jacobs, Jan

    2011-07-01

    The present paper reviews the diagnosis of imported malaria in children. Malaria is caused by a parasite called Plasmodium and occurs in over 100 countries worldwide. Children account for 10-15% of all patients with imported malaria and are at risk to develop severe and life-threatening complications especially when infected with Plasmodium falciparum. Case-fatality ratios vary between 0.2% and 0.4%. Children visiting friends and relatives in malaria endemic areas and immigrants and refugees account for the vast majority of cases. Symptoms are non-specific and delayed infections (more than 3 months after return from an endemic country) may occur. Microscopic analysis of the thick blood film is the cornerstone of laboratory diagnosis. For pragmatic reasons, EDTA-anticoagulated blood is accepted, provided that slides are prepared within 1 h after collection. Information about the Plasmodium species (in particular P. falciparum versus the non-falciparum species) and the parasite density is essential for patient management. Molecular methods in reference settings are an adjunct for species differentiation. Signals generated by automated hematology analyzers may trigger the diagnosis of malaria in non-suspected cases. Malaria rapid diagnostic tests are reliable in the diagnosis of P. falciparum but not for the detection of the non-falciparum species. They do not provide information about parasite density and should be used as an adjunct (and not a substitute) to microscopy. In case of persistent suspicion and negative microscopy results, repeat testing every 8-12 h for at least three consecutive samplings is recommended. A high index of suspicion and a close interaction with the laboratory may assure timely diagnosis of imported malaria.

  6. Indeterminate cell histiocytosis that presented clinically as benign cephalic histiocytosis.

    Science.gov (United States)

    Haimovic, Adele; Chernoff, Karen; Hale, Christopher S; Meehan, Shane A; Schaffer, Julie V

    2014-12-16

    Indeterminate cell histiocytosis (ICH) is a rare, heterogeneous disorder that is characterized by immunophenotypic features of both Langerhans cell histiocytosis (LCH) and non-LCH. We describe a 12-month-old boy with a four-month history of asymptomatic, small, pink-tan papules on his face. Histopathologic evaluation showed a superficial, dermal infiltrate of histiocytes that was positive for S100, CD1a, CD68, and Factor XIIIa. To our knowledge, this represents the first report of the clinical presentation of benign cephalic histiocytosis with immunohistochemical findings of ICH. We review the classification of histiocytic disorders and the clinical and immunohistochemical features of both ICH and benign cephalic histiocytosis.

  7. Cultural variation in the clinical presentation of sleep paralysis.

    Science.gov (United States)

    de Jong, Joop T V M

    2005-03-01

    Sleep paralysis is one of the lesser-known and more benign forms of parasomnias. The primary or idiopathic form, also called isolated sleep paralysis, is illustrated by showing how patients from different cultures weave the phenomenology of sleep paralysis into their clinical narratives. Clinical case examples are presented of patients from Guinea Bissau, the Netherlands, Morocco, and Surinam with different types of psychopathology, but all accompanied by sleep paralysis. Depending on the meaning given to and etiological interpretations of the sleep paralysis, which is largely culturally determined, patients react to the event in specific ways.

  8. Chromoblastomycosis: an overview of clinical manifestations, diagnosis and treatment.

    Science.gov (United States)

    Queiroz-Telles, Flavio; Esterre, Phillippe; Perez-Blanco, Maigualida; Vitale, Roxana G; Salgado, Claudio Guedes; Bonifaz, Alexandro

    2009-02-01

    Chromoblastomycosis is one of the most frequent infections caused by melanized fungi. It is a subcutaneous fungal infection, usually an occupational related disease, mainly affecting individuals in tropical and temperate regions. Although several species are etiologic agents, Fonsecaea pedrosoi and Cladophialophora carrionii are prevalent in the endemic areas. Chromoblastomycosis lesions are polymorphic and must be differentiated from those associated with many clinical conditions. Diagnosis is confirmed by the observation of muriform cells in tissue and the isolation and the identification of the causal agent in culture. Chromoblastomycosis still is a therapeutic challenge for clinicians due to the recalcitrant nature of the disease, especially in the severe clinical forms. There are three treatment modalities, i.e., physical treatment, chemotherapy and combination therapy but their success is related to the causative agent, the clinical form and severity of the chromoblastomycosis lesions. There is no treatment of choice for this neglected mycosis, but rather several treatment options. Most of the patients can be treated with itraconazole, terbinafine or a combination of both. It is also important to evaluate the patient's individual tolerance of the drugs and whether the antifungal will be provided for free or purchased, since antifungal therapy must be maintained in long-term regimens. In general, treatment should be guided according to clinical, mycological and histopathological criteria.

  9. Atypical presentation of posterior reversible encephalopathy syndrome: Clinical and radiological characteristics in eclamptic patients

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    Aleksandra Aracki-Trenkić

    2016-08-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is an obstetric emergency frequently occurring in a pregnant or puerperal woman, manifested with an acute headache, consciousness impairment, seizures, and visual deficits and is associated with white matter changes predominantly affecting the posterior parietal and occipital lobes of the brain. Apart from the above-described typical location of the changes, the most common atypical location involves the brain stem and basal ganglia. Since magnetic resonance imaging (MRI is more sensitive and specific imaging technique compared to computerized tomography, establishing the diagnosis and follow-up in patients with PRES is based mainly on MRI findings. It is particularly important not to exclude PRES as a possible diagnosis when we have the appropriate clinical presentation accompanied by the atypical radiological findings, since this clinical-radiological syndrome can often be manifested with an atypical MRI image.

  10. Wernicke encephalopathy Clinical presentation and MR images in two nonalcoholic patients

    Institute of Scientific and Technical Information of China (English)

    He Zhang; Jun Wu; Zhiping Hu; Bo Xiao; Guoliang Li

    2008-01-01

    The aim of the present study was to investigate the importance of and correlation between clinical presentations and magnetic resonance imaging (MRI) of two different cases of nonalcoholic Wernicke encephalopathy. Case 1: A 63-year-old man with a diagnosis of incomplete mechanical intestinal obstruction. His abdominal symptoms were improved by gastrointestinal decompression, but blurred vision, hypoacusis, dizziness, and unsteady gait were noted. His illness deteriorated to confusion on day seven. MRI showed hyperintense lesions in the medial thalami, tectum of the midbrain, and the periaqueduct region on T2- and diffusion-weighted images. Thiamine therapy was commenced immediately with good results. Case 2: A 22-year-old woman was admitted for sudden-onset confabulation and unsteady gait after hyperemesis gravidarum. She had no history of alcohol or any medication. Brain MRI was normal. The patient experienced relief after Vitamin B1 treatment. These results suggest that brain MRI can define characteristic abnormalities in Wernicke encephalopathy, and that diffusion-weighted imaging may improve the diagnosis sensitivity. In addition, the MRI images may be correlated to the clinical stage and severity of the disease. Nevertheless, the clinical features are essential for correct diagnosis.

  11. Diagnosis of mitochondrial diseases: Clinical and histological study of sixty patients with ragged red fibers

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    Challa Sundaram

    2004-07-01

    Full Text Available Background: Mitochondrial diseases are caused by mutations in mitochondrial or nuclear genes, or both and most patients do not present with easily recognizable disorders. The characteristic morphologic change in muscle biopsy, ragged-red fibers (RRFs provides an important clue to the diagnosis. Materials and Methods: Demographic data, presenting symptoms, neurological features, and investigative findings in 60 patients with ragged-red fibers (RRFs on muscle biopsy, seen between January 1990 and December 2002, were analyzed. The authors applied the modified respiratory chain (RC diagnostic criteria retrospectively to determine the number of cases fulfilling the diagnostic criteria of mitochondrial disease. Results: The most common clinical syndrome associated with RRFs on muscle biopsy was progressive external ophthalmoplegia (PEO with or without other signs, in 38 (63% patients. Twenty-six patients (43% had only external ophthalmoplegia, 5 (8% patients presented with encephalomyopathy. Specific syndromes were the presenting feature in 8 (13%, Kearns-Sayre syndrome (KSS in 4 and myoclonus epilepsy with ragged-red fibers (MERRF in 4. Myopathy was the presenting feature in 5 (8% and 4 presented with infantile myopathy. Of the 60 patients, 18 (30% had proximal muscle weakness. Two patients with KSS and one patient with myopathy had complete heart block necessitating pace making. When the modified RC diagnostic criteria were applied, only 26 (43% patients had one other major criterion in addition to RRFs for the diagnosis of mitochondrial diseases. The remaining 34 (57% patients with RRFs on muscle biopsy had only some clinical features suggestive of RC disorder but did not fulfill the clinical criteria (of the modified diagnostic criteria for the diagnosis of mitochondrial diseases. Conclusion: In patients with clinical features suggestive of RC disorder, demonstration of RRFs on muscle biopsy helps in confirming the diagnosis of mitochondrial

  12. Clinical application of brain imaging for the diagnosis of mood disorders: the current state of play.

    Science.gov (United States)

    Savitz, J B; Rauch, S L; Drevets, W C

    2013-05-01

    In response to queries about whether brain imaging technology has reached the point where it is useful for making a clinical diagnosis and for helping to guide treatment selection, the American Psychiatric Association (APA) has recently written a position paper on the Clinical Application of Brain Imaging in Psychiatry. The following perspective piece is based on our contribution to this APA position paper, which specifically emphasized the application of neuroimaging in mood disorders. We present an introductory overview of the challenges faced by researchers in developing valid and reliable biomarkers for psychiatric disorders, followed by a synopsis of the extant neuroimaging findings in mood disorders, and an evidence-based review of the current research on brain imaging biomarkers in adult mood disorders. Although there are a number of promising results, by the standards proposed below, we argue that there are currently no brain imaging biomarkers that are clinically useful for establishing diagnosis or predicting treatment outcome in mood disorders.

  13. Clinical features and diagnosis for Chinese cases with malignant hyperthermia: a case cluster from 2005 to 2007

    Institute of Scientific and Technical Information of China (English)

    WANG Ying-lin; LUO Ai-lun; TAN Gang; CUI Xu-lei; GUO Xiang-yang

    2010-01-01

    Background Malignant hyperthermia (MH), manifesting as MH crisis during and/or after general anesthesia, is a potentially fatal disorder in response to volatile anesthetics and depolarizing muscle relaxants.Though typical features of MH episode can provide clues for clinical diagnosis, MH susceptibility is confirmed by in vitro caffeine-halothane contracture test (CHCT) in western countries.It is traditionally thought that MH has less incidence and fewer typical characteristics in Chinese population than their western counterparts because of the different genetic background.In this study, we investigated the clinical features of MH in Chinese cases and applied the clinical grading scale and CHCT for diagnosis of MH.Methods A cluster of three patients with MH, from January 2005 to December 2007, were included in the study.Common clinical presentations and the results of some lab examinations were reported in detail.The method of the clinical grading scale of diagnosis of MH was applied to estimate the qualitative likelihood of MH and predict MH susceptibility.Muscle fibers of femoral quadriceps of the patients were collected and CHCT was performed to confirm the diagnosis of MH.Results The clinical grading scales of diagnosis of the disease for these cases were all ranked grade D6, suggesting almost diagnosed ones.And the results of caffeine test were positive correspondingly, indicating that the patients should be diagnosed as MH susceptibility (MHS) according to diagnostic criteria of the North America MH group, which were already confirmed by clinical presentations and biochemical results.Conclusions These Chinese cases manifest as MH crisis.The clinical grading scale of diagnosis of MH may provide clues for clinical diagnosis.CHCT can also be used in confirming diagnosis of MH in Chinese cases though they have different genetic background from their western counterparts.

  14. Clinical presentation of rheumatic fever in an endemic area.

    Science.gov (United States)

    Cann, Megan P; Sive, Alan A; Norton, Robert E; McBride, William J H; Ketheesan, Natkunam

    2010-06-01

    This study documented whether patients diagnosed with acute rheumatic fever (ARF) in North Queensland, Australia, conformed to the 1992 Revised Jones Criteria (RJC). The authors aimed to determine whether inclusion of subclinical carditis (SCC) and monarthritis as major manifestations and a low-grade temperature as a minor manifestation in the RJC are justified in this population. A retrospective review of patients in whom the diagnosis of ARF relied on the experience of clinicians and who were admitted to the Townsville and Cairns Base Hospitals between 1997 and 2007 was undertaken. Of the 98 cases reviewed, 71.4% satisfied the RJC. Modification of the RJC increased the rate of criteria satisfaction to 91.8%. On presentation, 27 patients had SCC. Of the patients with SCC followed up, 70.5% had long-term valvular consequences. In populations endemic for ARF, monarthritis, SCC and a low-grade temperature should be included in the RJC.

  15. Endobronchial Enigma: A Clinically Rare Presentation of Nocardia beijingensis in an Immunocompetent Patient

    Directory of Open Access Journals (Sweden)

    Nader Abdel-Rahman

    2015-01-01

    Full Text Available Nocardiosis is an opportunistic infection caused by the Gram-positive weakly acid-fast, filamentous aerobic Actinomycetes. The lungs are the primary site of infection mainly affecting immunocompromised patients. In rare circumstances even immunocompetent hosts may also develop infection. Diagnosis of pulmonary nocardiosis is usually delayed due to nonspecific clinical and radiological presentations which mimic fungal, tuberculous, or neoplastic processes. The present report describes a rare bronchoscopic presentation of an endobronchial nocardial mass in a 55-year-old immunocompetent woman without underlying lung disease. The patient exhibited signs and symptoms of unresolving community-acquired pneumonia with a computed tomography (CT scan that showed a space-occupying lesion and enlarged paratracheal lymph node. This patient represents the unusual presentation of pulmonary Nocardia beijingensis as an endobronchial mass. Pathology obtained during bronchoscopy demonstrated polymerase chain reaction (PCR confirmation of nocardiosis. Symptoms and clinical findings improved with antibiotic treatment. This patient emphasizes the challenge in making the diagnosis of pulmonary nocardiosis, especially in a low risk host. A literature review presents the difficulties and pitfalls in the clinical assessment of such an individual.

  16. Postsurgical aortic false aneurysm: pathogenesis, clinical presentation and surgical strategy.

    Science.gov (United States)

    Raffa, Giuseppe M; Malvindi, Pietro G; Ornaghi, Diego; Basciu, Alessio; Barbone, Alessandro; Tarelli, Giuseppe; Settepani, Fabrizio

    2013-08-01

    Postsurgical aortic false aneurysm occurs in less than 0.5% of all cardiac surgical cases and its management is a challenge in terms of preoperative evaluation and surgical approach. Although infections are well recognized as risk factors, technical aspects of a previous operation may have a role in pseudoaneurysm formation. The risk factors and clinical presentation of pseudoaneurysms and the surgical strategy are revisited in this article.

  17. Clinical zinc deficiency as early presentation of Wilson disease.

    Science.gov (United States)

    Van Biervliet, Stephanie; Küry, Sébastien; De Bruyne, Ruth; Vanakker, Olivier M; Schmitt, Sébastien; Vande Velde, Saskia; Blouin, Eric; Bézieau, Stéphane

    2015-04-01

    Wilson disease is a rare autosomal recessive disorder of the copper metabolism caused by homozygous or compound heterozygous mutations in the ATP-ase Cu(2+) transporting polypeptide (ATP7B) gene. The copper accumulation in different organs leads to the suspicion of Wilson disease. We describe a child with clinical zinc deficiency as presenting symptom of Wilson disease, which was confirmed by 2 mutations within the ATP7B gene and an increased copper excretion.

  18. Severe anorexia nervosa in males: clinical presentations and medical treatment.

    Science.gov (United States)

    Sabel, Allison L; Rosen, Elissa; Mehler, Philip S

    2014-01-01

    The clinical presentation and medical complications of severe anorexia nervosa among males were examined to further the understanding of this increasingly prevalent condition. Fourteen males were admitted to a medical stabilization unit over the study period. Males with severe anorexia nervosa were found to have a multitude of significant medical and laboratory abnormalities, which are in need of treatment via judicious, nutritional rehabilitation and weight restoration to prevent additional morbidity and to facilitate transfer and admission to traditional eating disorder programs.

  19. Gender Differences in Clinical Presentations of Cystic Fibrosis Patients in Azeri Turkish Population

    Science.gov (United States)

    Vahedi, Leila; Jabarpoor-Bonyadi, Morteza; Ghojazadeh, Morteza; Vahedi, Amir

    2016-01-01

    Background Cystic fibrosis (CF) is an autosomal recessive disorder with several clinical presentations. This study was undertaken in the Azeri Turkish population in Iran, to investigate gender differences in the age at onset and diagnosis, age of death, and duration of illness of CF. Methods The data of 331 CF patients from 2001 to 2015 was surveyed. Parameters including age, sex, ΔF508 mutation, age at onset, age at diagnosis, age of death and clinical presentations were evaluated for both sexes, using descriptive analysis. The association of gender with these variables was studied using logistic regression, chi-square test and Mann-Whitney U test by SPSS version 18. Odds ratio with a confidence interval of 95% and p≤0.05 was considered statistically significant. Results The study included 191 males (57.7%) and 140 females (42.3%), all showing statistically significant difference (p<0.001). Age duration differed between genders. Male and female patients were further under 9 and 4 years, respectively. The occurrence of ΔF508 mutation was 0.51 times more in females than in males. Age, diagnosis and sex were closely associated: males were diagnosed at a significantly later age than females (p=0.05). While this compression performed based on clinical presentations, males with respiratory disease had a later median age at diagnosis than females at lifespan (p=0.001). The risk of infertility in males was approximately two times greater than in females (p=0.02). Conclusion These findings indicate gender differences in CF patients. Future studies are needed to establish other differences and evaluate the causes for the gender variations.

  20. Current approach to masked hypertension: From diagnosis to clinical management.

    LENUS (Irish Health Repository)

    Dolan, Eamon

    2013-11-28

    The term masked hypertension phenomenon was first described by the late Professor Thomas Pickering and is commonly defined as having a normal clinic blood pressure (BP) but an elevated "out of office" reading. In the main these elevated readings have been provided through ambulatory blood pressure monitoring (ABPM) but sometimes home BP monitoring is used. It is now largely accepted that ABPM gives a better classification of risk than clinic BP. Thus the elevated ABPM levels should relate to higher cardiovascular risk and it follows that these people might be regarded as being genuinely hypertensive and at higher cardiovascular risk. The problem for clinical practice is how to identify and manage these subjects. The phenomenon should be suspected in subjects who have had an elevated clinic BP at some time, in young subjects with normal or normal-high clinic BP who have early left ventricular hypertrophy, in subjects with a family history of hypertension in both parents, patients with multiple risks for cardiovascular disease and perhaps diabetic patients. It appears to be more prevalent in subjects of male gender, with younger age, higher heart rate, obesity or high cholesterol levels and in smokers. Those with masked hypertension are at higher risk of events such as stroke and have a higher prevalence of target organ damage, for example, nephropathy. In conclusion most of the debate around this topic relates to its reliable identification. Given the higher ambulatory readings there is an increases cardiovascular risk making this diagnosis important. This article is protected by copyright. All rights reserved.

  1. Clinical diagnosis versus autopsy findings in polytrauma fatalities

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    Fakler Johannes K

    2010-10-01

    Full Text Available Abstract Objectives The aim of the study was to determine if differences in clinical diagnosis versus autopsy findings concerning the cause of death in polytrauma fatalities would be detected in 19 cases of fatal polytrauma from a Level 1 trauma centre. Methods Clinical diagnoses determining the cause of death in 19 cases of fatal polytrauma (2007 - 2008 from a Level 1 trauma centre were correlated with autopsy findings. Results In 13 cases (68%, the clinical cause of death and the cause of death as determined by autopsy were congruent. Marginal differences occurred in three (16% patients while obvious differences in interpreting the cause of death were found in another three (16% cases. Five fatalities (three with obvious differences and two with marginal differences were remarked as early death (1-4 h after trauma and one fatality with marginal differences as late death (>1 week after trauma. Obvious and marginal discrepancies mostly occurred in the early phase of treatment, especially when severely injured patients were admitted to the emergency room undergoing continued cardiopulmonary resuscitation, i. e. limiting diagnostic procedures, and thus the clinical cause of death was essentially determined by basic emergency diagnostics. Conclusions Autopsy as golden standard to define the cause of death in fatal polytrauma varies from the clinical point of view, depending on the patient's pre-existing condition, mechanism of polytrauma, necessity of traumatic cardiopulmonary resuscitation, survival time, and thus the possibility to perform emergency diagnostics. An autopsy should be performed at least in cases of early fatal polytrauma to help establishing the definite cause of death. Moreover, autopsy data should be included in trauma registries as a quality assessment tool.

  2. Toxic scarlet fever complicating cellulitis: early clinical diagnosis is crucial to prevent a fatal outcome.

    Science.gov (United States)

    Lau, S K; Woo, P C; Yuen, K Y

    2004-04-01

    We describe a case of toxic scarlet fever in a healthy adult with streptococcal cellulitis of the right elbow as a result of skin abrasion. The clinical picture mimicked that of drug eruption after treatment of cellulitis with antibiotics. Among the five cases of scarlet fever complicating cellulitis, including the present one, reported in the English literature, four had severe systemic complications and two died. As a result of re-emergence of invasive streptococcal infections, clinicians should be aware of the differential diagnosis of scarlet fever in patients presenting with cellulitis and skin rash. Early clinical diagnosis is crucial to exclude drug eruptions, prompt initiation of antibiotic treatment, and prevention of the potentially fatal outcome.

  3. Clinical diagnosis and management in early Huntington's disease: a review

    Directory of Open Access Journals (Sweden)

    Schiefer J

    2015-03-01

    Full Text Available Johannes Schiefer,1,* Cornelius J Werner,1,* Kathrin Reetz1,2 1Euregional Huntington Center, 2Jülich Aachen Research Alliance (JARA – Translational Brain Medicine, Department of Neurology, RWTH Aachen University, Aachen, Germany *These authors contributed equally to this work Abstract: This review focuses on clinical diagnosis and both pharmacological and nonpharmacological therapeutic options in early stages of the autosomal dominant inherited neurodegenerative Huntington's disease (HD. The available literature has been reviewed for motor, cognitive, and psychiatric alterations, which are the three major symptom domains of this devastating progressive disease. From a clinical point of view, one has to be aware that the HD phenotype can vary highly across individuals and during the course of the disease. Also, symptoms in juvenile HD can differ substantially from those with adult-onset of HD. Although there is no cure of HD and management is limited, motor and psychiatric symptoms often respond to pharmacotherapy, and nonpharmacological approaches as well as supportive care are essential. International treatment recommendations based on study results, critical statements, and expert opinions have been included. This review is restricted to symptomatic and supportive approaches since all attempts to establish a cure for the disease or modifying therapies have failed so far. Keywords: Neurodegeneration, clinical picture, early symptoms, therapy, treatment

  4. An Unusual Presentation of Vertigo: Is Head Titubation the Key to Diagnosis?

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    O. Judd

    2009-01-01

    Full Text Available Objective. Discuss complex interplay of pathophysiological effects of cerebellar space occupying lesions on the vestibular pathway. Discuss challenges of diagnosis and referral along with differential and final diagnosis of unusual presentation. Case Report. We describe the case of a patient with vertiginous symptoms complicated by neurological features, namely, head titubation and tremor. The patient also had signs of oscillopsia and possible impairment of the vestibulo-ocular reflex. The resulting symptom and sign complex made for a difficult diagnosis, as the interplay of the pathophysiology of these signs, were unusual. Conclusion. The discussion has revealed that the cerebellar lesions themselves may have simultaneously caused head tremor and an inability for the vestibulo-ocular reflex to compensate, resulting in vertigo. However, whether the vertigo was a result of an oscillopsia, nystagmus, or central cause, the referral route should initially be via a general physician to rule out such a life threatening cause as a tumour.

  5. Acral pityriasis versicolor – A rare clinical presentation

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    Tasleem Arif

    2015-04-01

    Full Text Available Pityriasis versicolor is a superficial fungal infection of the skin caused by the yeast of the genus Malassezia and presents as hypo or hyper pigmented scaly macules. The most commonly affected sites include upper trunk, upper arms, neck and the abdomen. Lesions confined to the acral parts like hands and feet have rarely been reported. In this article the author reports a 40 year old male who presented with multiple hypo pigmented scaly macules confined to the acral parts (hands and wrist. The acral variant of pityriasis versicolor is considered to be a very rare clinical entity which prompted the author to report this case.

  6. Notes on "Clinical and Internal Medicine. Past, Present and Future”

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    Ricardo Hodelín Tablada

    2014-06-01

    Full Text Available "Clinical and Internal Medicine. Past, Present and Future" is a book written by Professor Alfredo Darío Espinosa Brito and published by Medical Sciences in 2011. It was awarded the prize of the Cuban Academy of Sciences. This article aims to encourage reading this book, a veritable compendium of the past, present and future of internal medicine. It outlines the issues addressed, from the structure designed for them to a fairly comprehensive assessment of the elements that define the scientific and literary value of this work.

  7. Accuracy of the clinical diagnosis of recessive X-linked ichthyosis vs ichthyosis vulgaris.

    Science.gov (United States)

    Cuevas-Covarrubias, S A; Kofman-Alfaro, S H; Palencia, A B; Díaz-Zagoya, J C

    1996-09-01

    The present study analyzes the accuracy of the clinical diagnosis of X-linked ichthyosis (XLI) vs ichthyosis vulgaris (IV), in a sample of Mexican patients. The study was double blind, using steroid sulfatase (STS) activity as the golden standard. Twenty male patients were included; 16 corresponded to XLI and 4 to IV. The clinical diagnosis was correct in 9 of the 16 XLI cases (56%) and in 2 of the 4 IV cases (50%). Some clinical findings in XLI, such as cryptorchidism in patients and delayed labor in their mothers, were important features for diagnosis. Statistical analysis of the results showed: among physicians (n = 2) Kappa value 0.50, specific concordance 0.40, and absolute concordance 0.75; other values were sensibility 0.56, specificity 0.50, positive predictive value 0.82, negative predictive value 0.22, accuracy 0.55, prevalence 0.80. In conclusion, the differential diagnosis of XLI and IV is very difficult, and we consider that this is not explained either by personal skills or by other conditions. It could be attributed to the similarities in skin manifestations of these two diseases. The performance of the STS assay is imperative in order to correctly diagnose the disease and offer adequate genetic counseling.

  8. Surface Plasmon Resonance for Cell-Based Clinical Diagnosis

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    Yuhki Yanase

    2014-03-01

    Full Text Available Non-invasive real-time observations and the evaluation of living cell conditions and functions are increasingly demanded in life sciences. Surface plasmon resonance (SPR sensors detect the refractive index (RI changes on the surface of sensor chips in label-free and on a real-time basis. Using SPR sensors, we and other groups have developed techniques to evaluate living cells’ reactions in response to stimuli without any labeling in a real-time manner. The SPR imaging (SPRI system for living cells may visualize single cell reactions and has the potential to expand application of SPR cell sensing for clinical diagnosis, such as multi-array cell diagnostic systems and detection of malignant cells among normal cells in combination with rapid cell isolation techniques.

  9. Juvenile idiopathic arthritis: clinically relevant imaging in diagnosis and monitoring

    Energy Technology Data Exchange (ETDEWEB)

    Southwood, Tauny [Birmingham Children' s Hospital NHS Foundation Trust, Department of Rheumatology, Birmingham (United Kingdom)

    2008-06-15

    The role of plain radiographs in monitoring the disease process in JIA is being increasingly superseded by MRI. The use of ultrasound by clinicians is contentious, but has the potential to corroborate and supplement the clinical impression of individual joint inflammation and it can be very useful for localising intra-articular treatment at the bedside. There are exciting developments in MRS technology which may eventually allow in vivo evaluation of the acute inflammatory process, measurement of early responses to treatment and detection of residual inflammation. The aim of this article is to describe a clinician's view of the current role of imaging in the diagnosis and monitoring of JIA. (orig.)

  10. Dementia with Parkinson's disease: Clinical diagnosis, neuropsychological aspects and treatment

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    Jorge Lorenzo Otero

    Full Text Available Abstract Dementia with Parkinson's disease represents a controversial issue in the complex group of alpha-synucleinopathies. The author acknowledges the concept of a "continuum" between Parkinson disease's (PD, Lewy body dementia (LBD, and dementia in Parkinson's disease (PDD. However, the practicing neurologist needs to identify the phenotypic signs of each dementia. The treatment and prognosis are different in spite of the overlaps between them. The main aim of this review was to characterize the clinical diagnoses of dementia associated with Parkinson's disease (PDD. Secondarily, the review discussed some epidemiological and neuropsychological issues. Selection of articles was not systematic and reflects the author's opinion, where the main text selected was the recommendations from the Movement Disorder Society Task Force for PDD diagnosis. The Pub Med, OVID, and Proquest data bases were used for the search.

  11. Sinusitis and intracranial sepsis: the CT imaging and clinical presentation

    Energy Technology Data Exchange (ETDEWEB)

    Saxton, V.J. [Dept. of Radiology, Royal Children`s Hospital, Melbourne (Australia); Boldt, D.W. [Dept. of Radiology, Royal Children`s Hospital, Melbourne (Australia); Shield, L.K. [Dept. of Neurology, Royal Children`s Hospital, Melbourne (Australia)

    1995-11-01

    The CT imaging and clinical presentation in 14 children with coexistent intracranial sepsis and sinusitis were reviewed. A routine CT head scan (10-mm thick semi-axial slices through the cranium done before and after intravenous contrast medium administration) was found to be an inadequate initial investigation as the intracranial collection was missed in four patients and the abnormal sinuses not shown in six. In half the children the dagnosis of sinusitis was unsuspected at the time of admission. The dominant clinical features were fever, intense headache and facial swelling in early adolescent males. In this clinical setting we recommend: (1) The routine scan is extended through the frontal and ethmoidal sinuses and photographed at a window level and width showing both bone detail and air/soft tissue interfaces; (2) direct coronal projections are performed through the anterior cranial fossa if no collection is seen on the routine study; (3) an early repeat scan within 48 h if the initial study shows no intracranial pathology but the fronto-ethomoidal sinuses are abnormal and there is a high clinical supicion of intracranial sepsis; and (4) in the presence of intracranial sepsis the vault is viewed at bone window settings to exclude cranial osteomyelitis. (orig.)

  12. Clinical disease presentation and ECG characteristics of LMNA mutation carriers

    Science.gov (United States)

    Ollila, Laura; Nikus, Kjell; Holmström, Miia; Jalanko, Mikko; Jurkko, Raija; Kaartinen, Maija; Koskenvuo, Juha; Kuusisto, Johanna; Kärkkäinen, Satu; Palojoki, Eeva; Reissell, Eeva; Piirilä, Päivi; Heliö, Tiina

    2017-01-01

    Objective Mutations in the LMNA gene encoding lamins A and C of the nuclear lamina are a frequent cause of cardiomyopathy accounting for 5–8% of familial dilated cardiomyopathy (DCM). Our aim was to study disease onset, presentation and progression among LMNA mutation carriers. Methods Clinical follow-up data from 27 LMNA mutation carriers and 78 patients with idiopathic DCM without an LMNA mutation were collected. In addition, ECG data were collected and analysed systematically from 20 healthy controls. Results Kaplan-Meier analysis revealed no difference in event-free survival (death, heart transplant, resuscitation and appropriate implantable cardioverter-defibrillator therapy included as events) between LMNA mutation carriers and DCM controls (p=0.5). LMNA mutation carriers presented with atrial fibrillation at a younger age than the DCM controls (47 vs 57 years, p=0.003). Male LMNA mutation carriers presented with clinical manifestations roughly a decade earlier than females. In close follow-up non-sustained ventricular tachycardia was detected in 78% of LMNA mutation carriers. ECG signs of septal remodelling were present in 81% of the LMNA mutation carriers, 21% of the DCM controls and none of the healthy controls giving a high sensitivity and specificity for the standard ECG in distinguishing LMNA mutation carriers from patients with DCM and healthy controls. Conclusions Male LMNA mutation carriers present clinical manifestations at a younger age than females. ECG septal remodelling appears to distinguish LMNA mutation carriers from healthy controls and patients with DCM without LMNA mutations. PMID:28123761

  13. Clinical usefulness of observational assessment in the diagnosis of DBD and ADHD in preschoolers.

    Science.gov (United States)

    Bunte, Tessa L; Laschen, Sarah; Schoemaker, Kim; Hessen, David J; van der Heijden, Peter G M; Matthys, Walter

    2013-01-01

    The aim of the present study was to investigate the clinical usefulness of an observational tool--the Disruptive Behavior Diagnostic Observation Schedule (DB-DOS)--in the diagnosis of disruptive behavior disorders (DBD) and attention deficit/hyperactivity disorder (ADHD) in preschoolers. We hypothesized that the DB-DOS may help support the presumption of a diagnosis generated by the information from parents and teachers (or other caregivers). Participants were referred preschool children with externalizing behavioral problems (N = 193; 83% male) and typically developing children (N = 58; 71% male). In view of the clinical validity study each child was given a diagnosis of either DBD (N = 40), or ADHD (N = 54) or comorbid (DBD + ADHD; N = 66) based on best-estimate diagnosis. The DB-DOS demonstrated good interrater and test-retest reliability for DBD and ADHD symptom scores. Confirmatory factor analysis demonstrated an excellent fit of the DB-DOS multidomain model of DBD symptom scores and a satisfactory fit of ADHD symptom scores. The DB-DOS demonstrated good convergent validity, moderate divergent validity, and good clinical validity on a diagnostic group level for DBD and ADHD symptom scores. The Receiver Operating Characteristic curve analyses revealed that for DBD the sensitivity and specificity are moderate and for ADHD good to excellent. The presumption of a diagnosis based on information from parents, teachers, and cognitive assessment was supported by the DB-DOS in 60% for DBD and 75% for ADHD. The DB-DOS can be used to help support a presumption of a DBD and/or ADHD diagnosis in preschool children.

  14. Iodine-131 metaiodobenzylguanidine (I-131 MIBG) diagnosis and therapy of pheochromocytoma and paraganglioma: current problems, critical issues and presentation of a sample case.

    Science.gov (United States)

    Castellani, M R; Aktolun, C; Buzzoni, R; Seregni, E; Chiesa, C; Maccauro, M; Aliberti, G L; Vellani, C; Lorenzoni, A; Bombardieri, E

    2013-06-01

    Iodine-131 metaiodobenzylguanidine (I-131 MIBG) has been used for the diagnosis and treatment of malignant pheochromocytomas (PHEO) and paragangliomas (PGL) since 1980's. Despite increasing amount of experience with iodine-131 (I-131) MIBG therapy, many important questions still exist. In this article, we will discuss the current problems learned from clinical experience in diagnosis and therapy of PHEO/PGL with I-131 MIBG, and present a sample case to emphasize the critical aspects for an optimal treatment strategy.

  15. Unusual clinical presentation of ethylene glycol poisoning: unilateral facial nerve paralysis.

    Science.gov (United States)

    Eroglu, Eray; Kocyigit, Ismail; Bahcebasi, Sami; Unal, Aydin; Sipahioglu, Murat Hayri; Kocyigit, Merva; Tokgoz, Bulent; Oymak, Oktay

    2013-01-01

    Ethylene glycol (EG) may be consumed accidentally or intentionally, usually in the form of antifreeze products or as an ethanol substitute. EG is metabolized to toxic metabolites. These metabolites cause metabolic acidosis with increased anion gap, renal failure, oxaluria, damage to the central nervous system and cranial nerves, and cardiovascular instability. Early initiation of treatment can reduce the mortality and morbidity but different clinical presentations can cause delayed diagnosis and poor prognosis. Herein, we report a case with the atypical presentation of facial paralysis, hematuria, and kidney failure due to EG poisoning which progressed to end stage renal failure and permanent right peripheral facial nerve palsy.

  16. Unusual Clinical Presentation of Ethylene Glycol Poisoning: Unilateral Facial Nerve Paralysis

    Directory of Open Access Journals (Sweden)

    Eray Eroglu

    2013-01-01

    Full Text Available Ethylene glycol (EG may be consumed accidentally or intentionally, usually in the form of antifreeze products or as an ethanol substitute. EG is metabolized to toxic metabolites. These metabolites cause metabolic acidosis with increased anion gap, renal failure, oxaluria, damage to the central nervous system and cranial nerves, and cardiovascular instability. Early initiation of treatment can reduce the mortality and morbidity but different clinical presentations can cause delayed diagnosis and poor prognosis. Herein, we report a case with the atypical presentation of facial paralysis, hematuria, and kidney failure due to EG poisoning which progressed to end stage renal failure and permanent right peripheral facial nerve palsy.

  17. DIFFERENTIAL DIAGNOSIS OF ORGANIC ACIDEMIA: CLINICAL AND NEUROIMAGING FINDINGS

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    Mahmoud Reza ASHRAFI

    2012-03-01

    Full Text Available Clinical differential DiagnosisThe organic acidemias are important in the differential diagnosis of metabolic and neurologic derangement in the neonate and of new-onset neurologic signs in the older child.A-Organic aciduriaSeveral disorders, not classified as primary disorders of organic acid metabolism, have a characteristic urinary organic acid profile that suggests the appropriate diagnosis.• Mevalonicaciduria, a disorder of cholesterol biosynthesis, shows mevalonic acid in the urine.• Glutaricacidemia type II, a disorder of fatty acid oxidation, has multiple organic acids in abnormal concentration in urine. These organic acids include ethylmalonic acid, glutaric acid, dicarboxylic acids, and glycine conjugates of medium chain dicarboxylic acids.• The fatty acylCoA-glycine conjugates that signal incomplete fatty acid oxidation and serves as signals to the diagnosis of MCAD defeciency and other disorders of fatty acid oxidation and transport.• Biotinidase deficiency, a disorder of biotin recycling, results in the urinary excretion of several unusual organic acids, including 3-hydroxy-isovaleric, 3-hydroxypropionic, 3-hydroxybutyric acids, and acetoacetate. Propionyl glycine may also be seen.• Mitochondrial diseases with disordered oxidative phosphorylation often demonstrate the presence of abnormal organic acids in the urine.B-AcidosisNon-genetic conditions, such as shock, sepsis, DKA, liver and kidney failure, thiamine deficiency, RTA, some drug intoxication cause acidosis- genetic conditions are include: inherited metabolic disorders of lactate and pyruvate metabolism and oxidative phosphorylation, disorders of the Krebs cycle such as fumarase deficiency.C-HyperammonemiaDisorders of the urea cycle and the hyperammonemia-hypoglycemia syndrome.Neuroimaging• A variety of MRI abnormalities have been described in the organic academia, including distinctive basal ganglia lesions in glutaricacidemia type I (GA I, white matter changes in

  18. Incorporating diagnosis and treatment of hyperhidrosis into clinical practice.

    Science.gov (United States)

    Pariser, David M

    2014-10-01

    Proper billing and coding are essential to document the diagnosis of hyperhidrosis and to assure proper reimbursement for treatment. Providers should become familiar with the payment policies of local health plans to streamline the preauthorization process that is often needed for many treatments commonly used for hyperhidrosis. Having a preprinted letter of medical necessity and patient intake forms that record the necessary historical information about the disease, previous treatments, and other pertinent information will help increase the speed of the office flow. This article presents algorithms for treatment of the various forms of primary focal hyperhidrosis.

  19. Wernicke's encephalopathy: new clinical settings and recent advances in diagnosis and management.

    Science.gov (United States)

    Sechi, Gianpietro; Serra, Alessandro

    2007-05-01

    Wernicke's encephalopathy is an acute neuropsychiatric syndrome resulting from thiamine deficiency, which is associated with significant morbidity and mortality. According to autopsy-based studies, the disorder is still greatly underdiagnosed in both adults and children. In this review, we provide an update on the factors and clinical settings that predispose to Wernicke's encephalopathy, and discuss the most recent insights into epidemiology, pathophysiology, genetics, diagnosis, and treatment. To facilitate the diagnosis, we classify the common and rare symptoms at presentation and the late-stage symptoms. We emphasise the optimum dose of parenteral thiamine required for prophylaxis and treatment of Wernicke's encephalopathy and prevention of Korsakoff's syndrome associated with alcohol misuse. A systematic approach helps to ensure that patients receive a prompt diagnosis and adequate treatment.

  20. Automatic Speech Signal Analysis for Clinical Diagnosis and Assessment of Speech Disorders

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    Baghai-Ravary, Ladan

    2013-01-01

    Automatic Speech Signal Analysis for Clinical Diagnosis and Assessment of Speech Disorders provides a survey of methods designed to aid clinicians in the diagnosis and monitoring of speech disorders such as dysarthria and dyspraxia, with an emphasis on the signal processing techniques, statistical validity of the results presented in the literature, and the appropriateness of methods that do not require specialized equipment, rigorously controlled recording procedures or highly skilled personnel to interpret results. Such techniques offer the promise of a simple and cost-effective, yet objective, assessment of a range of medical conditions, which would be of great value to clinicians. The ideal scenario would begin with the collection of examples of the clients’ speech, either over the phone or using portable recording devices operated by non-specialist nursing staff. The recordings could then be analyzed initially to aid diagnosis of conditions, and subsequently to monitor the clients’ progress and res...

  1. Diagnosis of brain death: confirmatory tests after clinical test

    Institute of Scientific and Technical Information of China (English)

    Su Yingying; Yang Qinglin; Liu Gang; Zhang Yan; Ye Hong; Gao Daiquan; Zhang Yunzhou

    2014-01-01

    Background The brain death confirmation tests occupy a different position in each country's diagnostic criteria (or guideline); the choices of tests are also different.China brain death criteria include clinical judgment and confirmation tests.This study aimed to confirm the preferred confirmatory test and complementary confirmatory tests.Methods We did a clinical brain death determination on deep coma patients,and then divided them into brain death group and non-brain death group.According to the Chinese standards for determining brain death,both the groups accepted confirmatory tests including electroencephalograph (EEG),somatosensory evoked potentials (SEP),and transcranial Doppler (TCD).The sensitivity,specificity,false positive rate,and false negative rate were calculated to evaluate the accuracy of the confirmatory tests.Results Among the 131 cases of patients,103 patients met the clinical criteria of brain death.Respiratory arrest provocation test was performed on 44 cases and 32 cases (73%) successfully completed and confirmed that they have no spontaneous breathing.Of the three confirmation tests,EEG had the highest completion rate (98%) and good sensitivity (83%) and specificity (97%); TCD had followed completion rate (54%) and not good sensitivity (73%) and specificity (75%); SEP had the lowest completion rate (49%),good sensitivity (100%),and not good specificity (78%).After the combination of SEP or TCD with EEG,the specificity can increase to 100%.Conclusions The completion rate of respiratory arrest provocation test remains a problem in the clinical diagnosis of brain death.If the test cannot be completed,whether to increase a confirmatory test is debatable.SEP had an ideal sensitivity,and the specificity will reach 100% after combining with TCD or EEG.When a confirmed test was uncertain,we suggest increasing another confirmatory test.

  2. [Urticaria pigmentosa: two different clinical presentations in pediatric patients].

    Science.gov (United States)

    Spada, Julieta; Lequio, Mariana; Pyke, María de los Ángeles; Hernández, Marisa; Chouela, Edgardo

    2011-08-01

    Urticaria pigmentosa (UP) is the most frequent clinical feature of cutaneous mastocytosis. It usually begins in a bimodal way: a peak of incidence from birth to the age of 3 and the other one between 2(nd) and 6(th) decades of life. Darier's sign is constant over the affected skin without affecting the surrounding skin. When UP starts early, it has a good prognosis disappearing into adolescence, while late onset is often associated with persistent or systemic involvement. This article reports two cases of UP, one with the classic description of the disease and the other with an unusual clinical presentation, prompting the pediatrician to incorporate both forms as different manifestations of the same entity.

  3. Acute Psychosis as Major Clinical Presentation of Legionnaires’ Disease

    Directory of Open Access Journals (Sweden)

    Ricardo Coentre

    2016-01-01

    Full Text Available We report a case of a 61-year-old woman who presented with acute psychosis as a major manifestation of Legionnaires’ disease in the absence of other neuropsychiatric symptoms. Clinical history revealed dry cough and nausea. Observation showed fever and auscultation crackles in the lower lobe of the right lung. Laboratory testing demonstrated elevated C-reactive protein and lung chest radiograph showed patchy peribronchial and right lower lobe consolidation. Soon after admission, she started producing purulent sputum. Epidemiological data suggested Legionella pneumophila as possible cause of the clinical picture that was confirmed by urinary antigen detection and polymerase chain reaction of the sputum. She was treated with levofloxacin 750 mg/day for 10 days with complete remission of pulmonary and psychiatric symptoms. She has not had further psychotic symptoms.

  4. An unusual presentation of childhood vasculitis presenting in adulthood: A challenging diagnosis of Henoch-Schönlein Purpura

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    Charat Thongprayoon

    2014-01-01

    Full Text Available Context: Henoch-Schφnlein purpura (HSP, a systemic IgA vascultitis, is uncommon in adults, with an incidence rate of 0.1 to 1.2 per million in adults over 20 years old. This vasculitic syndrome can present as an uncommon cause of intestinal obstruction in older patients. We report a case of an older woman with HSP presenting with small bowel obstruction and vasculitic rash. Case Report: We report a 67-year-old woman who presented with small bowel obstruction and skin rash. Skin biopsy revealed leukocytoclastic vasculitis with +IgA granular deposition within the walls of superficial dermal vessels. Kidney biopsy confirmed the diagnosis of HSP with mild mesangial proliferative IgA nephropathy. Her abdominal pain and small bowel obstruction were improved with conservative treatment. She continued to do well with normal kidney function at a 3-month follow-up visit. Conclusion: HSP, a systemic IgA vasculitis, is a predominantly pediatric vasculitis and is uncommon in adults. In adults, the disease process is identical to that in children. However, gastrointestinal manifestation is less common in older patients, and bowel perforation and obstruction are rare. Intestinal obstruction with skin rash and renal involvement should raise suspicions of HSP.

  5. Clinical and Laboratory Presentation of Hairy Cell Leukemia (Hcl and Rate of Response to Cladribine

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    M Forat Yazdi

    2008-04-01

    Full Text Available Introduction: HCL is a rare malignant condition that is curable if diagnosed early. HCL can present with reduced blood cells and splenomegaly which maybe misdiagnosed with other conditions. The aim of the present study was to determine the frequency of early clinical and laboratory findings as well as the response rate of patients to the standard treatment regimen of Cladribine. Methods: The study was an uncontrolled clinical trial including 25 HCL patients referring to Oncology Clinics of Shahid Sadoughi (Yazd - Iran and Shahid Beheshti (Tehran - Iran between 1999 and 2005. Data was gathered by a pre–designed questionnaire. 21 out of 25 patients were treated with Cladribine and the clinical and laboratory response was assessed. Results: Of the 25 patients studied, 20 patients (80% were male and 5 patients (20% were female. Most of the patients at diagnosis were 55–67 years old and the most common presenting symptom was fatigue and lassitude secondary to anemia. Two patients were asymptomatic and were diagnosed incidentally. Splenomegaly was the main clinical finding which was present in about 80% of the males and all of the females. Accordingly, hairy cells in the peripheral blood smear, leukopenia and anemia were the most common laboratory findings. In contrast to previous results, pancytopenia was found in only 60% of the patients. Response rate was 90% (19 out of 21 of which 61.9% (13 patients and 28.5% (6 patients had complete remission (CR and partial remission (PR, respectively. Conclusion: According to the results, it can be concluded that HCL should be considered as a possible diagnosis in the context of fatigue, splenomegaly and reduced blood cell count. The results of the present study were similar to other similar international studies.

  6. [Eosinophilic esophagitis--pathogenesis, clinical presentation and therapeutic management].

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    von Arnim, U; Mönkemüller, K; Malfertheiner, P; Straumann, A

    2007-12-01

    Eosinophilic esophagitis (EE) is a relatively new, chronic, TH 2-type allergic inflammation of the esophagus. EE occurs more frequently in men. Allergic diseases such as asthma or atopic dermatitis are present in 50-70 % of patients or their relatives. In adults, the most common presenting symptom of EE is dysphagia, with or without food bolus impaction. Endoscopic findings of EE include mucosal furrows, corrugated or concentric rings or ridges in the esophagus ("feline esophagus"), with or without tiny whitish exudates. The diagnosis is confirmed by the observation of high counts of eosinophils in the esophageal epithelium (at least 24 /HPF). The cornerstones of medical therapy are either topical or systemic corticosteroids. Additional therapies included leukotriene receptor antagonists (montelukast) and IL-5 blockers (Mepolizumab). Complications of EE such as esophageal strictures should be carefully dilated using either bougies or a balloon. Currently it is still not known whether the late complications of EE can be prevented by the use of anti-inflammatory agents and this can only be demonstrated through further long-term follow-up studies.

  7. Vulvar cancer: epidemiology, clinical presentation, and management options

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    Alkatout I

    2015-03-01

    Full Text Available Ibrahim Alkatout,1 Melanie Schubert,1 Nele Garbrecht,2 Marion Tina Weigel,1 Walter Jonat,1 Christoph Mundhenke,1 Veronika Günther1 1Department of Gynecology and Obstetrics, 2Institute for Pathology, University Hospitals Schleswig-Holstein, Campus Kiel, Kiel, Germany Epidemiology: Vulvar cancer can be classified into two groups according to predisposing factors: the first type correlates with a HPV infection and occurs mostly in younger patients. The second group is not HPV associated and occurs often in elderly women without neoplastic epithelial disorders. Histology: Squamous cell carcinoma (SCC is the most common malignant tumor of the vulva (95%. Clinical features: Pruritus is the most common and long-lasting reported symptom of vulvar cancer, followed by vulvar bleeding, discharge, dysuria, and pain. Therapy: The gold standard for even a small invasive carcinoma of the vulva was historically radical vulvectomy with removal of the tumor with a wide margin followed by an en bloc resection of the inguinal and often the pelvic lymph nodes. Currently, a more individualized and less radical treatment is suggested: a radical wide local excision is possible in the case of localized lesions (T1. A sentinel lymph node (SLN biopsy may be performed to reduce wound complications and lymphedema. Prognosis: The survival of patients with vulvar cancer is good when convenient therapy is arranged quickly after initial diagnosis. Inguinal and/or femoral node involvement is the most significant prognostic factor for survival. Keywords: vulvar cancer, HPV infection, radical vulvectomy, groin dissection, sentinel lymph node biopsy, overall survival

  8. A diagnosis-based clinical decision rule for spinal pain part 2: review of the literature

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    Hurwitz Eric L

    2008-08-01

    Full Text Available Abstract Background Spinal pain is a common and often disabling problem. The research on various treatments for spinal pain has, for the most part, suggested that while several interventions have demonstrated mild to moderate short-term benefit, no single treatment has a major impact on either pain or disability. There is great need for more accurate diagnosis in patients with spinal pain. In a previous paper, the theoretical model of a diagnosis-based clinical decision rule was presented. The approach is designed to provide the clinician with a strategy for arriving at a specific working diagnosis from which treatment decisions can be made. It is based on three questions of diagnosis. In the current paper, the literature on the reliability and validity of the assessment procedures that are included in the diagnosis-based clinical decision rule is presented. Methods The databases of Medline, Cinahl, Embase and MANTIS were searched for studies that evaluated the reliability and validity of clinic-based diagnostic procedures for patients with spinal pain that have relevance for questions 2 (which investigates characteristics of the pain source and 3 (which investigates perpetuating factors of the pain experience. In addition, the reference list of identified papers and authors' libraries were searched. Results A total of 1769 articles were retrieved, of which 138 were deemed relevant. Fifty-one studies related to reliability and 76 related to validity. One study evaluated both reliability and validity. Conclusion Regarding some aspects of the DBCDR, there are a number of studies that allow the clinician to have a reasonable degree of confidence in his or her findings. This is particularly true for centralization signs, neurodynamic signs and psychological perpetuating factors. There are other aspects of the DBCDR in which a lesser degree of confidence is warranted, and in which further research is needed.

  9. Endomysial antibodies predict celiac disease irrespective of the titers or clinical presentation

    Institute of Scientific and Technical Information of China (English)

    Kalle Kurppa; Markku M(a)ki; Katri Kaukinen; Tiia R(a)s(a)nen; Pekka Collin; Sari Iltanen; Heini Huhtala; Merja Ashorn; P(a)ivi Saavalainen; Katri Haimila; Jukka Partanen

    2012-01-01

    AIM:To investigate the association between serum antibody levels and a subsequent celiac disease diagnosis in a large series of children and adults.METHODS:Besides subjects with classical gastrointestinal presentation of celiac disease,the study cohort included a substantial number of individuals with extraintestinal symptoms and those found by screening in at-risk groups.Altogether 405 patients underwent clinical,serological and histological evaluations.After collection of data,the antibody values were further graded as low [endomysial (EmA) 1:5-200,transglutaminase 2 antibodies (TG2-ab) 5.0-30.0 U/L] and high (EmA 1:≥ 500,TG2-ab ≥ 30.0 U/L),and the serological results were compared with the small intestinal mucosal histology and clinical presentation.RESULTS:In total,79% of the subjects with low and 94% of those with high serum EmA titers showed small-bowel mucosal villous atrophy.Furthermore,96% of the 47 EmA positive subjects who had normal mucosal villi and remained on follow-up either subsequently developed mucosal atrophy while on a glutencontaining diet,or responded positively to a glutenfree diet.CONCLUSION:Irrespective of the initial serum titers or clinical presentation,EmA positivity as such is a very strong predictor of a subsequent celiac disease diagnosis.

  10. [Osteoma and exostosis of the external auditory meatus: a clinical diagnosis].

    Science.gov (United States)

    Granell, J; Puig, A; Benito, E

    2003-03-01

    Proliferative osseous lesions usually found in the external ear are exostoses and osteomata. In other sites they are clearly different entities, but in this location histopathologic differential features are not so reliable in the study of the specimens. An occlusive osteomata is shown, with the typical clinical presentation demonstrated in a multiplanar CT. Microscopically, the lesion consisted of mature bone trabeculae, separated by medular spaces with fibrovascular tissue, characteristic features of osteomata. However, in the most superficial areas, lines of bone apposition, like those in exostoses, were found. A literature review confirms the lack of specificity of the histopathologic study, so diagnosis is based on clinical data.

  11. Deterministic versus evidence-based attitude towards clinical diagnosis.

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    Soltani, Akbar; Moayyeri, Alireza

    2007-08-01

    Generally, two basic classes have been proposed for scientific explanation of events. Deductive reasoning emphasizes on reaching conclusions about a hypothesis based on verification of universal laws pertinent to that hypothesis, while inductive or probabilistic reasoning explains an event by calculation of some probabilities for that event to be related to a given hypothesis. Although both types of reasoning are used in clinical practice, evidence-based medicine stresses on the advantages of the second approach for most instances in medical decision making. While 'probabilistic or evidence-based' reasoning seems to involve more mathematical formulas at the first look, this attitude is more dynamic and less imprisoned by the rigidity of mathematics comparing with 'deterministic or mathematical attitude'. In the field of medical diagnosis, appreciation of uncertainty in clinical encounters and utilization of likelihood ratio as measure of accuracy seem to be the most important characteristics of evidence-based doctors. Other characteristics include use of series of tests for refining probability, changing diagnostic thresholds considering external evidences and nature of the disease, and attention to confidence intervals to estimate uncertainty of research-derived parameters.

  12. Clinical presentation and genotype of hepatitis delta in Karachi

    Institute of Scientific and Technical Information of China (English)

    Tariq Moatter; Zaigham Abbas; Sabhita Shabir; Wasim Jafri

    2007-01-01

    AIM: To assess the clinical presentation and genotypes of delta hepatitis in local population.METHODS: In this prospective study, 39 consecutive patients who were positive for HBsAg and hepatitis D virus (HDV) antibody were included. The patients were divided in two groups on the basis of presence or absence of HDV RNA and a comparative study was done. Genotype of HDV was determined in PCR positive patients.RESULTS: Overall there is male dominance, in which 34 patients out of 39 (87.2%) were male. Twenty (51%) patients were from the adjacent areas of three provinces; Sindh, Punjab and Balochistan indicating the higher prevalence of delta hepatitis in this mid region of Pakistan. Patients of all age groups were affected with delta hepatitis (median 31.5 years, range 12-75).HDV RNA was detectable in 23 patients (59%). All the HDV strains belonged to genotype Ⅰ. HBV DNA was detectable only in 3 cases who were also HBeAg and HDV RNA positive. Patients with detectable HDV RNA were younger than patients with undetectable RNA; mean age 29.7 ± 12.8 years vs 36.8 ± 15.2.There were no statistically significant differences in the clinical presentation and routine biochemical profile of patients with detectable or undetectable HDV RNA.Clinical cirrhosis was present in 19 (49%) patients; 12 with detectable RNA and 7 with undetectable HDV RNA (P = 0.748). Decompensated disease was seen in eight patients; five and three respectively from each group.Four patients with undetectable RNA and two patients with detectable RNA had normal ALT and ultrasound abdomen.CONCLUSION: HDV may infect at any age, usually young adult males. Genotype Ⅰ is prevalent. With time some of the patients become HDV RNA negative or asymptomatic carrier. Most of the patients have suppressed HBV DNA replication. Significant numbers of patients have cirrhosis.

  13. Vulvar and Vaginal Atrophy: Physiology, Clinical Presentation, and Treatment Considerations.

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    Lev-Sagie, Ahinoam

    2015-09-01

    Vulvovaginal atrophy is a common condition associated with decreased estrogenization of the vaginal tissue. Symptoms include vaginal dryness, irritation, itching, soreness, burning, dyspareunia, discharge, urinary frequency, and urgency. It can occur at any time in a woman's life cycle, although more commonly in the postmenopausal phase, during which the prevalence is approximately 50%. Despite the high prevalence and the substantial effect on quality of life, vulvovaginal atrophy often remains underreported and undertreated. This article aims to review the physiology, clinical presentation, assessment, and current recommendations for treatment, including aspects of effectiveness and safety of local vaginal estrogen therapies.

  14. [Present and future perspectives for the rapid molecular diagnosis of TB and MDR-TB].

    Science.gov (United States)

    Tanasescu, Mihaela; Didilescu, Cristian; Marica, Constantin

    2013-01-01

    Tuberculosis is still one of the diseases with a major medical and social impact, and in terms of early diagnosis (which would imply a fair treatment and established at the time), difficulties related to the delay bacilli isolation in culture, decreased susceptibility testing methods to antituberculosis drugs, lack of methods for differentiation of M. Tuberculosis complex germs of non-TB Mycobacteria, may have important clinical implications. Traditional testing of anti-TB drug susceptibility on solid Löwenstein-Jensen medium (gold standard) or liquid media can only be performed using grown samples. Determining the time it takes up to 42 days on solid media and 12 days for liquid media. For MDR/XDR TB cases itis absolutely essential to reduce the detection time. In these cases rapid diagnostic methods prove their usefulness. Automatic testing in liquid medium, molecular hybridization methods are currently recommended by the current WHO guidelines. Rapid diagnosis of MDR-TBis extremely useful for the early establishment of an effective treatment tailored more accurately on the spectrum of sensitivity of the resistant strain (thus reducing the risk of developing additional resistance to other drugs) and control the spread of these strains. Genetic diagnostic methods, approved and recommended by the WHO, can reduce the time of diagnosis of TB case and, importantly, the case of MDR-TB. They do not replace the current standard diagnostic methods and resistance profile, but complete them in selected cases.

  15. The Clinical Diagnosis and Management of Kawasaki Disease: a Review and Update.

    Science.gov (United States)

    Zhu, Frank H; Ang, Jocelyn Y

    2016-09-01

    Kawasaki disease is an acute, self-limited vasculitis of childhood and has become the leading cause of acquired pediatric heart disease in the USA. Prompt treatment is essential in reducing cardiac-related morbidity and mortality. The underlying etiology remains unknown. The disease itself may be the characteristic manifestation of a common pathway of immune-mediated vascular inflammation in susceptible hosts. The characteristic clinical features of fever for at least 5 days with bilateral nonpurulent conjunctivitis, rash, changes in lips and oral cavity, changes in peripheral extremities, and cervical lymphadenopathy remain the mainstay of diagnosis. Supplementary laboratory criteria can aid in the diagnosis, particularly in cases of incomplete clinical presentation. Diagnosis of Kawasaki disease can be challenging as the clinical presentation can be mistaken for a variety of other pediatric illnesses. Standard of care consists of intravenous immune globulin and aspirin. Corticosteroids, infliximab, and cyclosporine A have been used as adjunct therapy for Kawasaki disease refractory to initial treatment. There is ongoing research into the use of these agents in the initial therapy of Kawasaki disease.

  16. Delays before Diagnosis and Initiation of Treatment in Patients Presenting to Mental Health Services with Bipolar Disorder.

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    Rashmi Patel

    Full Text Available 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

  17. Diabetes Is Associated with Worse Clinical Presentation in Tuberculosis Patients from Brazil: A Retrospective Cohort Study.

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    Leonardo Gil-Santana

    Full Text Available The rising prevalence of diabetes mellitus (DM worldwide, especially in developing countries, and the persistence of tuberculosis (TB as a major public health issue in these same regions, emphasize the importance of investigating this association. Here, we compared the clinical profile and disease outcomes of TB patients with or without coincident DM in a TB reference center in Brazil.We performed a retrospective analysis of a TB patient cohort (treatment naïve of 408 individuals recruited at a TB primary care center in Brazil between 2004 and 2010. Data on diagnosis of TB and DM were used to define the groups. The study groups were compared with regard to TB disease presentation at diagnosis as well as to clinical outcomes such as cure and mortality rates upon anti-tuberculosis therapy (ATT initiation. A composite score utilizing clinical, radiological and microbiological parameters was used to compare TB severity between the groups.DM patients were older than non-diabetic TB patients. In addition, diabetic individuals more frequently presented with cough, night sweats, hemoptysis and malaise than those without DM. The overall pattern of lung lesions assessed by chest radiographic examination was similar between the groups. Compared to non-diabetic patients, those with TB-diabetes exhibited positive acid-fast bacilli in sputum samples more frequently at diagnosis and at 30 days after ATT initiation. Notably, higher values of the TB severity score were significantly associated with TB-diabetes comorbidity after adjustment for confounding factors. Moreover, during ATT, diabetic patients required more frequent transfers to TB reference hospitals for complex clinical management. Nevertheless, overall mortality and cure rates were indistinguishable between the study groups.These findings reinforce the idea that diabetes negatively impacts pulmonary TB severity. Our study argues for the systematic screening for DM in TB reference centers in endemic

  18. Diabetes Is Associated with Worse Clinical Presentation in Tuberculosis Patients from Brazil: A Retrospective Cohort Study

    Science.gov (United States)

    Hickson, Lucas S.; Daltro, Carla; Castro, Simone; Kornfeld, Hardy; Netto, Eduardo M.; Andrade, Bruno B.

    2016-01-01

    Background The rising prevalence of diabetes mellitus (DM) worldwide, especially in developing countries, and the persistence of tuberculosis (TB) as a major public health issue in these same regions, emphasize the importance of investigating this association. Here, we compared the clinical profile and disease outcomes of TB patients with or without coincident DM in a TB reference center in Brazil. Methods We performed a retrospective analysis of a TB patient cohort (treatment naïve) of 408 individuals recruited at a TB primary care center in Brazil between 2004 and 2010. Data on diagnosis of TB and DM were used to define the groups. The study groups were compared with regard to TB disease presentation at diagnosis as well as to clinical outcomes such as cure and mortality rates upon anti-tuberculosis therapy (ATT) initiation. A composite score utilizing clinical, radiological and microbiological parameters was used to compare TB severity between the groups. Results DM patients were older than non-diabetic TB patients. In addition, diabetic individuals more frequently presented with cough, night sweats, hemoptysis and malaise than those without DM. The overall pattern of lung lesions assessed by chest radiographic examination was similar between the groups. Compared to non-diabetic patients, those with TB-diabetes exhibited positive acid-fast bacilli in sputum samples more frequently at diagnosis and at 30 days after ATT initiation. Notably, higher values of the TB severity score were significantly associated with TB-diabetes comorbidity after adjustment for confounding factors. Moreover, during ATT, diabetic patients required more frequent transfers to TB reference hospitals for complex clinical management. Nevertheless, overall mortality and cure rates were indistinguishable between the study groups. Conclusions These findings reinforce the idea that diabetes negatively impacts pulmonary TB severity. Our study argues for the systematic screening for DM in TB

  19. Large Plunging Ranula Presenting as Isolated Neck Swelling: Steps in Diagnosis and Surgical Steps in Management

    Science.gov (United States)

    Malik, Neelima A.; Patil, Pankaj; Chapi, Mouneshkumar Devendrappa

    2015-01-01

    Ranula is a salivary gland cyst which typically present as localized superficial swelling over the floor of mouth. Complex or plunging ranulas develop when the mucus extravasation extends through or around the mylohyoid muscle, deeper into the neck, and present with neck lump along with or without swelling over floor of mouth. We report a case of large plunging ranula presenting as an isolated large neck mass in a 38-year-old female patient. The steps in diagnosis and surgical steps in management of the pathology are systematically described. PMID:26266141

  20. Еctopic ACTH syndrome: clinical picture, diagnosis, treatment

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    N S Kuznetsov

    2012-03-01

    Full Text Available Diagnosis and treatment of ectopic ACTH-syndrome currently is one of the most challenging problems among other forms of endogenous hypercorticism. This syndrome is associated with presence of extrapituitary tumors characterized with different histogenesis and localization, which produce adrenocorticotropic hormone (ACTH, or – rarely – corticotrophin-releasing hormone. In most cases the ectopic synthesis of ACTH is performed in bronchial carcinoid tumors (36–46%, oat cell cancer (18–20%, medullary thyroid cancer (3–7%, pheochromocytoma (9–23%, other sites are infrequent (pancreas, thymus, parotid gland, ovaries, uterus, prostate, colon, stomach, esophagus, etc.. Much of these tumors are aggressive and are characterized with propensity to metastasize and relapse. Currently there are few contradictory data on the comparative evaluation of the effectiveness of methods of topical diagnosis of the source of ectopic ACTH-secretion, and therefore there is an urgent need to develop an optimal and most efficient algorithm for diagnostic procedures to determine the extent of the tumor in patients with ectopic ACTH-syndrome. Indications for surgery, timing and extent of surgical intervention, the effectiveness of the operation, the causes and frequency of relapses are still discussed.The present difficulties of diagnosis, as well as the lack of a unified approach to the treatment of this disease in the complex, often lead to the progression and development of a large number of serious complications functions of up to disability, which in turn does not lead to significant improvement of quality of life. Thus further research is necessary to study of this disease

  1. The definition, aetiology, presentation, diagnosis and management of previous caesarean scar defects.

    Science.gov (United States)

    Allornuvor, G F N; Xue, M; Zhu, X; Xu, D

    2013-11-01

    Caesarean sections are the most commonly performed surgical procedures involving the uterus in fertile women. Typically, this surgery involves a transverse incision in the anterior lower uterine segment. The incidence of caesarean sections is on the increase worldwide, and consequently, the complications associated with them are becoming more common. One such complication that is gaining more attention is previous lower uterine segment caesarean scar defect (PCSD). In this review, we sought to explore the definition, aetiology, presentation, diagnosis and management of PCSD.

  2. Clinical Utility of Amyloid Imaging in a Complex Case of Corticobasal Syndrome Presenting with Psychiatric Symptoms.

    Science.gov (United States)

    Bensaïdane, M R; M-P, Fortin; Damasse, G; Chenard, M; Dionne, C; Duclos, M; Bouchard, R W; Laforce, R

    2014-11-26

    Clinical indications of amyloid imaging in atypical dementia remain unclear. We report a 68-year-old female without past psychiatric history who was hospitalized for auditory hallucinations and persecutory delusions associated with cognitive and motor deficits. Although psychotic symptoms resolved with antipsychotic treatment, cognitive and motor impairments remained. She further showed severe visuoconstructive and executive deficits, ideomotor apraxia, elements of Gerstmann's syndrome, bilateral agraphesthesia and discrete asymmetric motor deficits. Blood tests were unremarkable. Structural brain imaging revealed diffuse fronto-temporo-parietal atrophy, which was most severe in the parietal regions. Meanwhile, FDG-PET suggested asymmetrical fronto-temporo-parietal hypometabolism, with sparing of the posterior cingulate gyrus. A diagnosis of possible corticobasal syndrome (CBS) was made. Amyloid-PET using the novel tracer NAV4694 was ordered, and revealed significant deposition of fibrillar amyloid (SUVR 2.05). The primary diagnosis was CBS with underlying Alzheimer pathology and treatment with a cholinesterase inhibitor was initiated. Determination of underlying pathological CBS subtype is not simple even when based on extensive investigation including clinical presentation, atrophy patterns on MRI, and regional hypometabolism on FDG-PET. By contrast, amyloid imaging quickly confirmed Alzheimer pathology, and allowed rapid initiation of treatment in this complex case with early psychiatric symptoms. This case study illustrates the clinical utility of amyloid imaging in the setting of atypical cases seen in a tertiary memory clinic.

  3. Scrotal calcinosis: a very rare multiple clinical presentation.

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    Chiummariello, S; Figus, A; Menichini, G; Bellezza, G; Alfano, C

    2009-12-01

    Scrotal calcinosis (SC) is a rare benign disease that affects patients in childhood or early adulthood. It is characterized by slow-growing yellowish-white nodules consisting of deposits of calcium and phosphates, within the scrotal skin. The nodules vary in number, and can be solitary or grouped. Owing to the age of onset and anatomical location, SC may be a source of embarrassment and lead to social isolation. Because of its rarity, the aetiology of SC is still controversial. We report a very rare case of an SC in a 59-year-old white man who presented with multiple nodules with different clinical patterns in the scrotum, which had been present for > 42 years. Despite the rarity and the multiple long-lasting lesions, surgical excision of the scrotal nodules can offer a very good aesthetic outcome in a single procedure even under local anaesthesia.

  4. Clinical presentation and management practice of systemic mastocytosis. A survey on 460 Italian patients.

    Science.gov (United States)

    Pieri, Lisa; Bonadonna, Patrizia; Elena, Chiara; Papayannidis, Cristina; Grifoni, Federica Irene; Rondoni, Michela; Girlanda, Stefania; Mauro, Marina; Magliacane, Diomira; Elli, Elena Maria; Iorno, Maria Loredana; Almerigogna, Fabio; Scarfì, Federica; Salerno, Roberto; Fanelli, Tiziana; Gesullo, Francesca; Corbizi Fattori, Giuditta; Bonifacio, Massimiliano; Perbellini, Omar; Artuso, Anna; Soverini, Simona; De Benedittis, Caterina; Muratori, Simona; Pravettoni, Valerio; Cova, Vittoria; Cortellini, Gabriele; Ciceri, Fabio; Cortelezzi, Agostino; Martinelli, Giovanni; Triggiani, Massimo; Merante, Serena; Vannucchi, Alessandro Maria; Zanotti, Roberta

    2016-07-01

    Systemic mastocytosis is a rare heterogeneous myeloproliferative neoplasm characterized by abnormal proliferation and activation of mast cells. We describe a large multicentre series of 460 adult patients with systemic mastocytosis, with a diagnosis based on WHO 2008 criteria, in a "real-life" setting of ten Italian centers with dedicated multidisciplinary programs. We included indolent forms with (n = 255) and without (n = 165) skin lesions, smouldering (n = 20), aggressive (n = 28), associated with other hematological diseases mastocytosis (n = 21) and mast cell leukemia (n = 1). This series was uniquely characterized by a substantial proportion of patients with low burden of neoplastic mast cells; notably, 38% of cases were diagnosed using only minor diagnostic criteria according to WHO 2008 classification, underlying the feasibility of early diagnosis where all diagnostic approaches are made available. This has particular clinical relevance for prevention of anaphylaxis manifestations, that were typically associated with indolent forms. In multivariate analysis, the most important features associated with shortened overall survival were disease subtype and age at diagnosis >60 years. Disease progression was correlated with mastocytosis subtype and thrombocytopenia. As many as 32% of patients with aggressive mastocytosis suffered from early evolution into acute leukemia. Overall, this study provides novel information about diagnostic approaches and current presentation of patients with SM and underlines the importance of networks and specialized centers to facilitate early diagnosis and prevent disease-associated manifestations. Am. J. Hematol. 91:692-699, 2016. © 2016 Wiley Periodicals, Inc.

  5. Pancreatic Extra-Gastrointestinal Stromal Tumor: An Unusual Presentation of a Rare Diagnosis

    Science.gov (United States)

    Joshi, Jitesh; Rustagi, Tarun

    2010-01-01

    concluded to limit care to comfort measures only. He passed away the next day, day 5 of admission. The family refused an autopsy. Discussion: EGISTs are usually asymptomatic depending on the location, tumor size, and mucosal involvement. The usual clinical symptoms include abdominal pain, early satiety, ileus, bleeding, anemia, and weight loss. This is the first reported case of pancreatic EGIST presenting with abdominal distension due to massive size of the tumor and hepatic encephalopathy secondary to hepatic metastasis. GISTs originate from the interstitial cells of Cajal (ICC), which express the c-kit protein (CD117), CD34, and vimentin. An EGIST or metastatic disease may mimic a sarcoma or myoma on gross and microscopic appearance. The definite diagnosis is based on the immunohistochemical examination. CD117 expression is the most sensitive marker, found in 95% of GISTs. Frequent mitotic activity (2/50 HPF), high cellularity, and the presence of necrosis indicate a potentially aggressive clinical course for EGIST. The current definitive treatment for GIST, including EGIST, is surgical. Adjuvant therapy appears to be warranted because of high recurrence rates. Imatinib mesylate, a tyrosine kinase inhibitor, is a current treatment of choice for advanced GIST. It has also proven to be of benefit as adjuvant therapy with surgery to prevent recurrences.

  6. Phenobarbitone-induced haematological abnormalities in idiopathic epileptic dogs: prevalence, risk factors, clinical presentation and outcome.

    Science.gov (United States)

    Bersan, E; Volk, H A; Ros, C; De Risio, L

    2014-09-13

    The aim of this retrospective study was to assess prevalence, risk factors, clinical presentation and outcome of phenobarbitone induced haematological abnormalities (PBIHA) in dogs. The medical records of two veterinary referral institutions were searched for dogs diagnosed with idiopathic epilepsy and treated with PB as monotherapy or polytherapy between March 2003 and September 2010. Sixteen dogs had PBIHA; the median age at diagnosis was 69.5 months. Phenobarbitone was administered at a median dose of 3 mg/kg twice a day for a median period of 100.5 days and the median serum phenobarbitone level was 19 μg/ml. Two dogs had neutropenia, three had anaemia and thrombocytopenia, two had anaemia and neutropenia; the remaining nine had pancytopenia. All dogs were referred for non-specific clinical signs. Phenobarbitone was discontinued after diagnosis, and the median time to resolution of PBIHA was 17 days. The prevalence and risk factors for PBIHA were evaluated from a questionnaire survey of referring practices to obtain more detailed follow-up on cases diagnosed with idiopathic epilepsy. The prevalence rate of PBIHA was 4.2%, and the condition occurred in dogs treated with standard therapeutic doses often within the first three months after starting treatment. Serial haematological evaluations should be therefore considered from the beginning of phenobarbitone therapy to allow early diagnosis and treatment of PBIHA.

  7. Multi-centre retrospective analysis of clinical diagnosis and treatment for chronic cough

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    Xiao-ming CHENG

    2011-02-01

    Full Text Available Objective To explore the clinical characteristics and the present status of diagnosis and treatment of chronic cough.Methods The clinical data of 238 in-patients and out-patients of Departments of Respiratory Diseases from 4 teaching hospitals of Chongqing Municipality were collected from Oct.2008 to Dec.2009,and their clinical characteristics,diagnosis and therapeutic effects were retrospectively analyzed.Results A total of 238 patients were enrolled,most of them complained of dry cough and night cough.Throat symptoms were most common,including itching or foreign body sensation,throat discomfort and gastro-oesophageal reflux.Congestion of pharynx and cobblestone like changes in posterior pharyngeal wall were the most common signs in patients with chronic cough.Among all the supplementary examinations,bronchial provocation test resulted in highest positive rate.Etiological diagnosis was done in a total of 254 case-times for diseases leading to chronic cough,among them upper airway cough syndrome(UACS was suspected in 115 case-times.cough variant asthma(CVA in 42 case-times,and cough due to gastroesophageal reflux(GERC in 53 case-times.After the specific treatment targeting UACS,CVA and GERC,in 152 case-times improvement was found after follow-up,including 56,27 and 21 case-times,respectively,with an effective rate of 68.4%(104/152.The final diagnosis for the other 44 case-times with chronic cough was chronic tonsillitis,chronic bronchitis,eosinophilic bronchitis and angiotensin converting enzyme inhibitor(ACEI induced cough.A definite diagnosis was finally made in 148 out of a total of 254 casses,with a diagnostic rate of 58.3%(148/254.Conclusion The final diagnostic rate in etiology of chronic cough is still poor nowadays in our country,and empirical treatment is still the main practice for chronic cough.

  8. [Piriformis muscle syndrome: etiology, pathogenesis, clinical manifestations, diagnosis, differential diagnosis and therapy].

    Science.gov (United States)

    Grgić, Vjekoslav

    2013-01-01

    variations of PM and SN. In 5-6% of patients with low back pain and/or unilateral sciatica, the pain is caused by PM disorders. PS diagnosis can be made on the basis of anamnesis, clinical picture, clinical examination, EMNG, perisciatic anesthetic block of PM and radiological exams (pelvis/PM MRI; MR neurography of LS plexus and SN). PS therapy includes medicamentous therapy, physical therapy, kynesitherapy, acupuncture, therapeutic perisciatic blocks, botulinum toxin injections and surgical treatment (tenotomy of PM, neurolysis of SN).

  9. CLINICAL AND PATHOLOGICAL PRESENTATIONS OF BRONCHOGENIC CARCINOMA IN A TERTIARY CARE CENTRE

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    Vishwanath V

    2016-06-01

    Full Text Available BACKGROUND Lung cancer is presently the most common malignant disease (13% of all cancers and the leading cause of cancer deaths (19% of all cancer deaths in the world in all age groups and in both sexes. It is the leading cause of cancer deaths in developed as well as in developing countries. OBJECTIVE The present study was conducted to study the various clinical and pathological presentations of bronchogenic carcinoma. MATERIALS AND METHODS A total of 82 patients with histologically proven bronchogenic carcinoma, hospitalized between 2012 and 2014 at a tertiary care centre, Pune, India, were analysed. RESULT Out of a total of 82 diagnosed cases, average age was 61 years, nearly 80.0% were males. Smoking was the risk factor in 63.41%. About 2% of female patients were smokers. Six (7.3% patients were <40 years of age at the time of diagnosis. Fiberoptic bronchoscopy (75.60% was found to be the most efficient diagnostic procedure. Histologically, adenocarcinoma, squamous cell carcinoma, non-small cell carcinoma and small cell carcinoma were seen in 57.31%, 24.39%, 9.75% and 6.09% cases, respectively. Distant metastases to organs like nodes, liver, adrenals and bones were present in 67%. CONCLUSION This study shows that adenocarcinoma is the most common type of lung cancer and clinical and radiological suspicion should lead to the prompt diagnosis and management.

  10. Management of Low-Flow Vascular Malformations: Clinical Presentation, Classification, Patient Selection, Imaging and Treatment

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    McCafferty, Ian, E-mail: ian.mccafferty@uhb.nhs.uk [Queen Elizabeth Hospital Birmingham (QEHB) & Birmingham Children’s Hospital (BCH) (United Kingdom)

    2015-10-15

    This review article aims to give an overview of the current state of imaging, patient selection, agents and techniques used in the management of low-flow vascular malformations. The review includes the current classifications for low-flow vascular malformations including the 2014 updates. Clinical presentation and assessment is covered with a detailed section on the common sclerosant agents used to treat low-flow vascular malformations, including dosing and common complications. Imaging is described with a guide to a simple stratification of the use of imaging for diagnosis and interventional techniques.

  11. Clinical and CBCT-based diagnosis of furcation involvement in patients with severe periodontitis

    DEFF Research Database (Denmark)

    Cimbaljevic, Milena M; Spin-Neto, Rubens R; Miletic, Vesna J

    2015-01-01

    OBJECTIVE: The aim of this study was to compare the use of periodontal probing and cone beam computed tomography (CBCT) images in the diagnosis of furcation involvement (FI) in patients with chronic generalized severe periodontitis. METHOD AND MATERIALS: Fifteen patients with chronic generalized...... severe periodontitis were included in this study. In total, 174 furcation sites (all in molar teeth) were analyzed. FI was assessed at three sites (buccal, mesiopalatal, and distopalatal) of maxillary molars, and at two sites (buccal and oral) of mandibular molars. FI was assessed both clinically...... (periodontal probing) and on CBCT images, using a dichotomous scale (present/absent). The agreement between clinical and CBCTbased findings was calculated. RESULTS: FI were more often detected by means of CBCT than by means of clinical examination. Agreement between the evaluation methods was present in 46...

  12. Imaging diagnosis in relapsing polychondritis and correlation with clinical and serological data

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    Thaiss, W.M.; Nikolaou, K.; Horger, M. [Eberhard Karls University, Department of Radiology, Diagnostic and Interventional Radiology, Tuebingen (Germany); Spengler, W.; Xenitidis, T.; Henes, J. [Eberhard Karls University, Department of Internal Medicine II, Tuebingen (Germany); Spira, D. [Eberhard Karls University, Department of Radiology, Diagnostic and Interventional Radiology, Tuebingen (Germany); University Medical Center Heidelberg, Diagnostic and Interventional Radiology, Heidelberg (Germany)

    2016-03-15

    We hypothesize that imaging findings from CT and MRI correlate better with clinical markers for assessment of disease activity in patients with the rare relapsing polychondritis (RPC) than with serological inflammatory markers. Retrospective database search at our institution identified 28 patients (13 females; age 49.0 years ± 15.0 SD) with RP between September 2004 and March 2014. Institutional review board approval was obtained for this retrospective data analysis. All patients had clinically proven RPC with at least two episodes of active disease. Of those, 18 patients were examined with CT- and MRI and presented all morphologic features of RPC like bronchial/laryngeal/auricular cartilage thickness, contrast enhancement, increased T2-signal intensity. Imaging data was subsequently correlated with corresponding clinical symptoms like fever, dyspnea, stridor, uveitis, pain, hearing impairment as well as with acute-phase-inflammatory parameters like C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). The clinical parameters were in good agreement with imaging findings and clinical symptoms such as tracheal wall thickening and dyspnea (r =0.65 p = 0.05), joint synovitis on MRI and a higher McAdam score (r = 0.84 p < 0.001). No correlations were found between inflammatory laboratory markers, imaging findings and clinical features. Imaging diagnosis in RPC using CT and/or MRI delivers information about the degree of disease activity that correlates better with clinical features than unspecific inflammatory laboratory markers. Additionally, clinically unapparent cartilage involvement can be assessed adding value to the clinical diagnosis and therapy planning in this rare disease. (orig.)

  13. Clinical presentation of depression among Malaysian women in Penang Island.

    Science.gov (United States)

    Khan, Tahir M; Sulaiman, Syed A; Hassali, Mohamed A; Tahir, Humera

    2011-09-01

    Objectives To identify the aetiology and clinical presentation of depression among Malaysian women.Methods A cross-sectional study was conducted at the Psychiatry Clinic, Public Hospital, Pulau Penang, Malaysia. Retrospective evaluations of records were conducted between January 2002 and December 2007. The data were analysed using the statistical software, SPSS v. 131®.Results Ninety-six (56.8%) of the patients were Chinese, the mean (± SD) age of the patients was 45 ± 17.8 years, with a majority (72; 42.6%) aged over 50 years. The incidence of depression with comorbid hypertension and comorbid diabetes mellitus was significant among women aged over 50 (P Malaysian women, suicidal ideation and somatic symptoms like reduced energy/being easily fatigued were more frequent among Chinese.Conclusion Symptoms of being short-tempered, crying, restless and doubtful/distracted should not be neglected in primary care because of the possibility of mental health disorders. The timely evaluation of diabetic and hypertensive patients is an ideal strategy to prevent mental health disorders.

  14. Methods for diagnosis of bile acid malabsorption in clinical practice.

    Science.gov (United States)

    Vijayvargiya, Priya; Camilleri, Michael; Shin, Andrea; Saenger, Amy

    2013-10-01

    Altered concentrations of bile acid (BA) in the colon can cause diarrhea or constipation. More than 25% of patients with irritable bowel syndrome with diarrhea or chronic diarrhea in Western countries have BA malabsorption (BAM). As BAM is increasingly recognized, proper diagnostic methods are needed to help direct the most effective course of treatment for the chronic bowel dysfunction. We review the methodologies, advantages, and disadvantages of tools that directly measure BAM: the (14)C-glycocholate breath and stool test, the (75)selenium homotaurocholic acid test (SeHCAT), and measurements of 7 α-hydroxy-4-cholesten-3-one (C4) and fecal BAs. The (14)C-glycocholate test is laborious and no longer widely used. The (75)SeHCAT has been validated but is not available in the United States. Measurement of serum C4 is a simple and accurate method that can be used for most patients but requires further clinical validation. Assays to quantify fecal BA (total and individual levels) are technically cumbersome and not widely available. Regrettably, none of these tests are routinely available in the United States; assessment of the therapeutic effects of a BA binder is used as a surrogate for diagnosis of BAM. Recent data indicate the advantages to studying fecal excretion of individual BAs and their role in BAM; these could support the use of the fecal BA assay, compared with other tests. Measurement of fecal BA levels could become a routine addition to the measurement of fecal fat in patients with unexplained diarrhea. Availability ultimately determines whether the C4, SeHCAT, or fecal BA test is used; more widespread availability of such tests would enhance clinical management of these patients.

  15. Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management.

    Science.gov (United States)

    Richards, Michael D; Wong, Agnes

    2015-12-01

    Infantile nystagmus syndrome (INS) is an important clinical diagnosis because it is a common presenting sign of many ocular, neurologic, and systemic diseases. Although INS has been studied for more than a century, its diagnosis and treatment remains a challenge to clinicians because of its varied manifestations and multiple associations, and its pathogenesis continues to rouse considerable scientific debate. Fueled by these challenges, recent basic research and clinical investigations have provided new insights into INS. New genetic discoveries and technological advances in ocular imaging have refined our understanding of INS subtypes and offer new diagnostic possibilities. Unexpected surgical outcomes have led to new understanding of its pathogenesis based on novel hypothesized pathways of ocular motor control. Comparative studies on nonhuman visual systems have also informed models of the neural substrate of INS in humans. This review brings together the classic profile of this disorder with recent research to provide an update on the clinical features of INS, an overview of the current theories on how and why INS develops, and a practical approach to the diagnosis and management of INS.

  16. Comparison of clinical samples for visceral Leishmaniasis diagnosis in asymptomatic dogs by PCR hybridization

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    Ferreira, Sidney A.; Ituassu, Leonardo T.; Melo, Maria N. [Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG (Brazil). Dept. de Parasitologia], e-mail: saninoalmeida@gmail.com, e-mail: Itituassu@yahoo.com.br, e-mail: melo@icb.ufmg.br; Leite, Rodrigo S.; Andrade, Antero S.R. [Centro de Desenvolvimento da Tecnologia Nuclear (CDTN-CNEN/MG), Belo Horizonte, MG (Brazil)], e-mail: rleite2005@gmail.com, e-mail: antero@cdtn.br

    2009-07-01

    The canine visceral leishmaniasis (CVL) diagnosis still represents a challenge because of complexity of this disease. The aim of present study was to compare different clinical samples for diagnosis of CVL by Polymerase Chain Reaction (PCR) combined with hybridization of {sup 32}P labeled probes. Bone marrow (BM), skin biopsy (SB), peripheral blood (PB) and conjunctival swab (CS) were used in this work. With this purpose 40 asymptomatic dogs, all positive by parasitological test, were obtained. From each animal were collected SB with sterile punches from ear internal surface, 1.0 mL of PB, BM aspirates from sternum and CS from both lower eyelid. Each clinical sample was submitted to suitable DNA purification process and PCR-hybridization assays. The positive results obtained with PCR were 55%, 25%, 30% and 22.5% for CS, BM, SB and PB respectively while the PCR followed by hybridization showed a positivity of 87.5%, 50%, 45% and 27.5% respectively. The hybridization assay was able to increase the PCR positivity in all kinds of clinical samples. The best performance was obtained using CS samples. We concluded that the PCR associated with DNA radioactive probes was a very sensitive tool for diagnosis of CVL in asymptomatic dogs and the CS has an important potential for regular screening of dogs. (author)

  17. Clinical presentation and management of neonatal abstinence syndrome: an update

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    Ordean A

    2014-04-01

    Full Text Available Alice Ordean,1 Brian C Chisamore21Department of Family Medicine, 2Department of Pediatrics, St Joseph's Health Centre, and University of Toronto, Toronto, ON, CanadaAbstract: Exposure to prescription medications and illicit drug use during pregnancy has been associated with neonatal abstinence syndrome. The clinical presentation consists of neurological respiratory, gastrointestinal, and vasomotor disturbances. All infants require observation and supportive care to ensure appropriate adaptation and growth in the newborn period. A smaller percentage may also require additional pharmacotherapy, depending on the specific gestational substance exposure. Women should be counseled antenatally about the possible neonatal effects, and mother–baby dyad care should be implemented for this particular patient population.Keywords: neonatal withdrawal, opioids, marijuana, cocaine, benzodiazepines, selective serotonin reuptake inhibitors

  18. Molar incisor hypomineralization (MIH): clinical presentation, aetiology and management.

    Science.gov (United States)

    Weerheijm, K L

    2004-01-01

    In this paper, the current knowledge about Molar Incisor Hypomineralization (MIH) is presented. MIH is defined as hypomineralization of systemic origin of one to four permanent first molars frequently associated with affected incisors and these molars are related to major clinical problems in severe cases. At the moment, only limited data are available to describe the magnitude of the phenomenon. The prevalence of MIH in the different studies ranges from 3.6-25% and seems to differ in certain regions and birth cohorts. Several aetiological factors (for example, frequent childhood diseases) are mentioned as the cause of the defect. Children at risk should be monitored very carefully during the period of eruption of their first permanent molars. Treatment planning should consider the long-term prognosis of these teeth.

  19. Molecular and Clinical Diagnosis of Group A Streptococcal Pharyngitis in Children

    Science.gov (United States)

    Faddoul, Diala; Sposto, Richard; Batoon, Kristine; Polanco, Claudia M.; Dien Bard, Jennifer

    2014-01-01

    Group A Streptococcus (GAS) pharyngitis is a very common condition causing significant morbidity in children. Accurate diagnosis followed by appropriate antimicrobial therapy is recommended to prevent postinfectious sequelae. Diagnosis of GAS pharyngitis by a rapid antigen detection test (RADT) or culture in the absence of discriminating clinical findings remains challenging. Validation of new sensitive rapid diagnostic tests is therefore a priority. The performance of a loop-mediated isothermal amplification (LAMP) assay (illumigene assay) for the diagnosis of GAS pharyngitis was compared with that of a RADT and standard culture in 361 pediatric throat swab samples. Discrepant results were resolved using an alternate molecular assay. Test results were correlated with clinical presentations in patients positive by either method. The closest estimate of the true prevalence of GAS pharyngitis was 19.7% (71/361 samples). The illumigene assay alone detected 70/71 GAS-positive samples; RADT and culture detected 35/71 and 55/71 samples, respectively. RADT followed by culture confirmation of RADT-negative specimens detected 58/71 cases. The illumigene assay increased identification among children eligible for testing by American College of Physicians (ACP)/American Academy of Family Physicians (AAFP) criteria from 31 to 39 positive cases, five of which were false positives. Analysis of clinical data in GAS-positive patients indicated that a significantly greater proportion of children with McIsaac scores of ≥4 tested positive by the illumigene assay versus RADT and culture. Overall, the illumigene assay was much more sensitive and was similarly specific for GAS detection, compared to culture alone, RADT alone, or the ACP/AAFP RADT/culture algorithm. Combining high sensitivity with rapidly available results, the illumigene GAS assay is an appropriate alternative to culture for the laboratory diagnosis of GAS pharyngitis in patients for whom testing is clinically

  20. Application of a diagnosis-based clinical decision guide in patients with low back pain

    Directory of Open Access Journals (Sweden)

    Murphy Donald R

    2011-10-01

    Full Text Available Abstract Background Low back pain (LBP is common and costly. Development of accurate and efficacious methods of diagnosis and treatment has been identified as a research priority. A diagnosis-based clinical decision guide (DBCDG; previously referred to as a diagnosis-based clinical decision rule has been proposed which attempts to provide the clinician with a systematic, evidence-based means to apply the biopsychosocial model of care. The approach is based on three questions of diagnosis. The purpose of this study is to present the prevalence of findings using the DBCDG in consecutive patients with LBP. Methods Demographic, diagnostic and baseline outcome measure data were gathered on a cohort of LBP patients examined by one of three examiners trained in the application of the DBCDG. Results Data were gathered on 264 patients. Signs of visceral disease or potentially serious illness were found in 2.7%. Centralization signs were found in 41%, lumbar and sacroiliac segmental signs in 23% and 27%, respectively and radicular signs were found in 24%. Clinically relevant myofascial signs were diagnosed in 10%. Dynamic instability was diagnosed in 63%, fear beliefs in 40%, central pain hypersensitivity in 5%, passive coping in 3% and depression in 3%. Conclusion The DBCDG can be applied in a busy private practice environment. Further studies are needed to investigate clinically relevant means to identify central pain hypersensitivity, poor coping and depression, correlations and patterns among the diagnostic components of the DBCDG as well as inter-examiner reliability and efficacy of treatment based on the DBCDG.

  1. Cerebral venous thrombosis: Update on clinical manifestations, diagnosis and management

    Directory of Open Access Journals (Sweden)

    Leys Didier

    2008-01-01

    Full Text Available Cerebral venous thrombosis (CVT has a wide spectrum of clinical manifestations that may mimic many other neurological disorders and lead to misdiagnoses. Headache is the most common symptom and may be associated with other symptoms or remain isolated. The other frequent manifestations are focal neurological deficits and diffuse encephalopathies with seizures. The key to the diagnosis is the imaging of the occluded vessel or of the intravascular thrombus, by a combination of magnetic resonance imaging (MRI and magnetic resonance venography (MRV. Causes and risk factors include medical, surgical and obstetrical causes of deep vein thrombosis, genetic and acquired prothrombotic disorders, cancer and hematological disorders, inflammatory systemic disorders, pregnancy and puerperium, infections and local causes such as tumors, arteriovenous malformations, trauma, central nervous system infections and local infections. The breakdown of causes differs in different parts of the world. A meta-analysis of the most recent prospectively collected series showed an overall 15% case-fatality or dependency rate. Heparin therapy is the standard therapy at the acute stage, followed by 3-6 months of oral anticoagulation. Patients with isolated intracranial hypertension may require a lumbar puncture to remove cerebrospinal fluid before starting heparin when they develop a papilloedema that may threaten the visual acuity or decompressive hemicraniectomy. Patients who develop seizures should receive antiepileptic drugs. Cerebral venous thrombosis - even pregnancy-related - should not contraindicate future pregnancies. The efficacy and safety of local thrombolysis and decompressive hemicraniectomy should be tested

  2. Giant cell arteritis. Part I. Terminology, classification, clinical manifestations, diagnosis

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    Azamat Makhmudovich Satybaldyev

    2012-01-01

    Full Text Available Giant cell arteritis (GCA is a vasculitis affecting mainly large and medium-sized arteries, which the classification of systemic vasculitides refers to as those mainly involving the large vessels. GCA is typified by the involvement of extracranial aortic branches and intracranial vessels, the aorta and its large vessels are being affected most frequently. The paper considers the terminology, classification, prevalence, major pathogenic mechanisms, and morphology of GCA. A broad spectrum of its clinical subtypes is due to target vessel stenosis caused by intimal hyperplasia. In 40% of cases, GCA is shown to be accompanied by polymyalgia rheumatica that may either precede or manifest simultaneously with GCA, or follow this disease. The menacing complications of GCA may be visual loss or ischemic strokes at various sites depending on the location of the occluded vessel. Along with the gold standard verification of the diagnosis of GCA, namely temporal artery biopsy, the author indicates other (noninvasive methods for detection of vascular lesions: color Doppler ultrasonography of the temporal arteries, fluorescein angiography of the retina, mag-netic resonance angiography, magnetic resonance imaging, and computed tomography to rule out aortic aneurysm. Dynamic 18F positron emission tomography is demonstrated to play a role in the evaluation of therapeutic effectiveness.

  3. Intestinal microsporidiosis in HIV-positive patients with chronic unexplained diarrhea in Rio de Janeiro, Brazil: diagnosis, clinical presentation and follow-up Microsporidiose intestinal em pacientes HIV-positivos com diarréia crônica no Rio de Janeiro, Brasil: diagnóstico, clínica e acompanhamento

    Directory of Open Access Journals (Sweden)

    Patrícia Brasil

    1996-04-01

    Full Text Available After the diagnosis of two cases of microsporidial intestinal infection in 1992, in Rio de Janeiro, we have started looking for this parasite in HIV-infected patients with chronic unexplained diarrhea. We have studied 13 patients from Hospital Evandro Chagas, IOC-FIOCRUZ. Fecal specimens from these patients were examined for the presence of Cryptosporidia and Microsporidia, in addition to routine examination. Spores of Microsporidia were found in the stools of 6 (46.1% of the 13 patients studied, with 2 histological jejunal confirmations. The Microsporidia-infected patients presented chronic diarrhea with about 6 loose to watery bowel movements a day. Five infected patients were treated with Metronidazole (1.5 g/day. They initially showed a good clinical response, but they never stopped eliminating spores. After about the 4th week of therapy, their diarrhea returned. Two patients utilized Albendazole (400 mg/day-4 weeks with a similar initial improvement and recurrence of the diarrhea. Intestinal Microsporidiosis seems to be a marker of advanced stages of AIDS, since 5 of our 6 infected patients were dead after a 6 month period of follow-up. The present study indicates that intestinal microsporidiosis may be a burgeoning problem in HIV-infected patients with chronic diarrhea in Brazil, which deserves further investigation.Após o diagnóstico, em 1992, de 2 pacientes eliminando esporos de microsporídeos, o presente estudo foi realizado com o objetivo de determinar a ocorrência destes organismos em pacientes HIV-positivos com diarréia crônica sem etiologia definida. O grupo estudado era constituído de 13 pacientes acompanhados no Hospital Evandro Chagas, IOC, FIOCRUZ. Amostras fecais de cada paciente foram examinadas pelos métodos de rotina, além de colorações especiais para a pesquisa de Cryptosporidium e de microsporídeos. Esporos de microsporídeos foram observados nas fezes de 6 (46,1% dos 13 pacientes. Em 2 a confirmação foi

  4. Clinical Presentation, Aetiology, and Outcomes of Meningitis in a Setting of High HIV and TB Prevalence

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    Keneuoe Hycianth Thinyane

    2015-01-01

    Full Text Available Meningitis causes significant morbidity and mortality globally. The aim of this study was to study the clinical presentation, aetiology, and outcomes of meningitis among adult patients admitted to Queen Mamohato Memorial Hospital in Maseru, Lesotho, with a diagnosis of meningitis. A cross-sectional study was conducted between February and April 2014; data collected included presenting signs and symptoms, laboratory results, and clinical outcomes. Descriptive statistics were used to summarise data; association between variables was analysed using Fisher’s exact test. 56 patients were enrolled; the HIV coinfection rate was 79%. The most common presenting symptoms were altered mental status, neck stiffness, headache, and fever. TB meningitis was the most frequent diagnosis (39%, followed by bacterial (27%, viral (18%, and cryptococcal meningitis (16%. In-hospital mortality was 43% with case fatalities of 23%, 40%, 44%, and 90% for TB, bacterial, cryptococcal, and viral meningitis, respectively. Severe renal impairment was significantly associated with mortality. In conclusion, the causes of meningitis in this study reflect the high prevalence of HIV and TB in our setting. Strategies to reduce morbidity and mortality due to meningitis should include improving diagnostic services to facilitate early detection and treatment of meningitis and timely initiation of antiretroviral therapy in HIV-infected patients.

  5. Automatic lumbar vertebra segmentation from clinical CT for wedge compression fracture diagnosis

    Science.gov (United States)

    Ghosh, Subarna; Alomari, Raja'S.; Chaudhary, Vipin; Dhillon, Gurmeet

    2011-03-01

    Lumbar vertebral fractures vary greatly in types and causes and usually result from severe trauma or pathological conditions such as osteoporosis. Lumbar wedge compression fractures are amongst the most common ones where the vertebra is severely compressed forming a wedge shape and causing pain and pressure on the nerve roots and the spine. Since vertebral segmentation is the first step in any automated diagnosis task, we present a fully automated method for robustly localizing and segmenting the vertebrae for preparation of vertebral fracture diagnosis. Our segmentation method consists of five main steps towards the CAD(Computer-Aided Diagnosis) system: 1) Localization of the intervertebral discs. 2) Localization of the vertebral skeleton. 3) Segmentation of the individual vertebra. 4) Detection of the vertebrae center line and 5) Detection of the vertebrae major boundary points. Our segmentation results are promising with an average error of 1.5mm (modified Hausdorff distance metric) on 50 clinical CT cases i.e. a total of 250 lumbar vertebrae. We also present promising preliminary results for automatic wedge compression fracture diagnosis on 15 cases, 7 of which have one or more vertebral compression fracture, and obtain an accuracy of 97.33%.

  6. Accuracy of clinical tests in the diagnosis of anterior cruciate ligament injury: A systematic review

    NARCIS (Netherlands)

    M.S. Swain (Michael S.); N. Henschke (Nicholas); S.J. Kamper (Steven); A.S. Downie (Aron S.); B.W. Koes (Bart); C. Maher (Chris)

    2014-01-01

    textabstractBackground: Numerous clinical tests are used in the diagnosis of anterior cruciate ligament (ACL) injury but their accuracy is unclear. The purpose of this study is to evaluate the diagnostic accuracy of clinical tests for the diagnosis of ACL injury.Methods: Study Design: Systematic rev

  7. Clinical Presentation and Patient Evaluation in Nonalcoholic Fatty Liver Disease.

    Science.gov (United States)

    Patel, Vaishali; Sanyal, Arun J; Sterling, Richard

    2016-05-01

    Nonalcoholic fatty liver disease (NAFLD) is a diagnosis of exclusion. Most patients are asymptomatic and diagnosed incidentally. Most patients remain undiagnosed. A high index of suspicion and serologic work-up to rule out alternative causes of liver disease is required. In NALFD, fibrosis correlates with outcomes, including mortality. To diagnose, assess severity, and monitor fibrosis, 2 noninvasive methods can be used. However, noninvasive tests are more helpful at extremes of fibrosis: excluding it or diagnosing advanced fibrosis. Liver biopsy is usually reserved for cases whereby noninvasive tests fail to accurately determine the degree of fibrosis or the diagnosis is unclear.

  8. Patterns of clinical presentation of adult coeliac disease in a rural setting

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    D'Souza Charles

    2006-09-01

    Full Text Available Abstract Background In recent years there has been increasing recognition that the pattern of presentation of coeliac disease may be changing. The classic sprue syndrome with diarrhoea and weight loss may be less common than the more subtle presentations of coeliac disease such as an isolated iron deficiency anaemia. As a result, the diagnosis of this treatable condition is often delayed or missed. Recent serologic screening tests allow non-invasive screening to identify most patients with the disease and can be applied in patients with even subtle symptoms indicative of coeliac disease. Both benign and malignant complications of coeliac disease can be avoided by early diagnosis and a strict compliance with a gluten free diet. Aim The aim of this study is to evaluate the trends in clinical presentation of patients diagnosed with adult coeliac disease. In addition, we studied the biochemical and serological features and the prevalence of associated conditions in patients with adult coeliac disease. Methods This is an observational, retrospective, cross-sectional review of the medical notes of 32 adult patients attending the specialist coeliac clinic in a district general hospital. Results Anaemia was the most common mode of presentation accounting for 66% of patients. Less than half of the patients had any of the classical symptoms of coeliac disease and 25% had none of the classical symptoms at presentation. Anti-gliadin antibodies, anti-endomysial antibody and anti-tissue transglutaminase showed 75%, 68% and 90% sensitivity respectively. In combination, serology results were 100% sensitive as screening tests for adult coeliac disease. Fifty nine percent patients had either osteoporosis or osteopenia. There were no malignant complications observed during the follow up of our patients. Conclusion Most adults with coeliac disease have a sub clinical form of the disease and iron deficiency anaemia may be its sole presenting symptom. Only a minority

  9. Naso labial cyst: presentation of a clinical case with CT and MR images

    Energy Technology Data Exchange (ETDEWEB)

    Aquilino, Raphael Navarro; Faria, Reinaldo Jose Antonio; Eid, Nayene Leocadia Manzutti; Boscolo, Frab Norberto [Universidade Estadual de Campinas (UNICAMP), Piracicaba, SP (Brazil). Faculdade de Odontologia; Bazzo, Vitor Jose [Universidade de Sao Paulo (USP), Bauru, SP (Brazil). Faculdade de Odontologia

    2008-07-01

    The naso labial cyst is an uncommon non-odontogenic cyst that develops in the lower region of the nasal ala; its pathogenesis is uncertain. This lesion grows slowly and measures between 1.5 and 3 cm; it is characterized clinically by a floating tumefaction in the naso labial sulcus, which elevates the upper lip. The diagnosis is based on the clinical findings and, if necessary, image exams. This paper reports a case of a white 48-year-old Brazilian female patient that presented a firm tumor in the left ala of the nose; the clinical features suggested a naso labial cyst. CT scans revealed an expanding tumor with soft tissue density located in the left ala of the nose. It measured 1.2 cm in diameter and had a clear and well-defined outline; its homogeneous density was about 50 HU. MR images revealed a circular lesion located in soft tissue; T1 and T2 weighted signals were hyperintense, as were images after fat suppression. The diagnosis was a naso labial cyst, which was confirmed by histopathology after surgery. (author)

  10. Deep Orbital Dermoid Cyst Bulging into the Superior Orbital Fissure: Clinical Presentation and Management

    Science.gov (United States)

    Kumar, Ravinder; Vyas, Kapil; Jaiswal, Gagan; Bhargava, Abhishek; Kundu, Jyoti

    2017-01-01

    Purpose: To present a case of deep orbital dermoid cyst with emphasis on clinical presentation, imaging spectrum, differential diagnosis and management. Case Report: A 28-year-old female was referred to our hospital with chief complaint of drooping of right eyelid and progressive headache. Ocular motility, visual acuity and fundus examination were normal. computed tomography (CT) and magnetic resonance imaging (MRI) revealed a well-defined, intraosseous deep orbital dermoid cyst (5.9 mm × 12.5 mm) located near the apex of right orbit, extending from greater wing of sphenoid into the superior orbital fissure. Due to occulomotor nerve (superior and inferior divisions) compression which passes through the superior orbital fissure, ipsilateral headache and ptosis occurred. Complete surgical excision of cyst was performed using noninvasive extracranial lateral orbitotomy approach. After removal of the cyst, curette and cutting drill were used to thoroughly remove any residual cystic content. Histopathological analysis confirmed the diagnosis. The healing was uneventful postoperatively. Conclusion: CT and MRI are easy, reliable, safe and effective imaging methods for establishing the diagnosis of orbital dermoid cyst. Size, location and manifestations are the most important determinants of the disease management. Complete surgical excision without rupture of the cyst is the treatment of choice. PMID:28299014

  11. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis

    Institute of Scientific and Technical Information of China (English)

    LI Hui; WEI Jun; MA Ying; SHANG Tao

    2005-01-01

    Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neconatal echocardiography was performed to check the accuracy of prenatal diagnosis. Results: (1) Forty-six cases(4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Fotry-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. Conclusions: (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart

  12. Memory Impairment at Initial Clinical Presentation in Posterior Cortical Atrophy.

    Science.gov (United States)

    Ahmed, Samrah; Baker, Ian; Husain, Masud; Thompson, Sian; Kipps, Christopher; Hornberger, Michael; Hodges, John R; Butler, Christopher R

    2016-04-23

    Posterior cortical atrophy (PCA) is characterized by core visuospatial and visuoperceptual deficits, and predominant atrophy in the parieto-occipital cortex. The most common underlying pathology is Alzheimer's disease (AD). Existing diagnostic criteria suggest that episodic memory is relatively preserved. The aim of this study was to examine memory performance at initial clinical presentation in PCA, compared to early-onset AD patients (EOAD). 15 PCA patients and 32 EOAD patients, and 34 healthy controls were entered into the study. Patients were tested on the Addenbrooke's Cognitive Examination (ACE-R), consisting of subscales in memory and visuospatial skills. PCA and EOAD patients were significantly impaired compared to controls on the ACE total score (p skills (p skills compared to EOAD patients (p presentation. The findings suggest that memory impairment must be considered in assessment and management of PCA. Further study into memory in PCA is warranted, since the ACE-R is a brief screening tool and is likely to underestimate the presence of memory impairment.

  13. Clinical presentation of urolithiasis in older and younger population

    Directory of Open Access Journals (Sweden)

    Murat Dursun

    2014-12-01

    Full Text Available Aim of the study: We compared stone size, localization, complaint at the time of applying, comorbidity, treatment and complications between older (60 years of age and older and younger patients with urolithiasis (59 years of age and younger. Materials and Methods: We retrospectively reviewed the records of 950 consecutive patients who presented to our clinic and underwent surgery for urolithiasis from January 2007 to March 2012. The patients were divided into two groups: patients ≥ 60 years an patients < 60 years. Results: There were 174 men and 61 women in elderly group, 528 men and 187 women in younger group. Ureteral stones were found more often in the younger group compared to elderly patients (p < 0.05. Conversely, bladder stone was more frequent in the elderly group. In the elderly group comorbidities are more frequent (diabetes mellitus, hypertension, ischemic heart disease, congestive heart disease, osteoarthritis and chronic obstructive lung. Patients ≥ 60 years significantly had larger kidney and bladder stones compared the younger, but ureteral stone sizes were not statistically different between the two groups. Older patients had a higher postoperative complication rate than younger patients (16% versus 3%, p < 0.05 although postoperative complications (e.g. urinary retention, cardiac dysrythmia, fever, constipation were not serious and resolved with medical treatment. The average length of stay in hospital was longer in the elderly group, but the difference was not statistically significant. Conclusions: Elderly patients with urolithiasis usually have larger and more complex stone disease, more comorbidities and atypical presentation.

  14. Atypical presentation of CLIPPERS syndrome: a new entity in the differential diagnosis of central nervous system rheumatologic diseases.

    Science.gov (United States)

    Gul, Maryam; Chaudhry, Ammar A; Chaudhry, Abbas A; Sheikh, Mubashir A; Carsons, Steven

    2015-04-01

    Numerous autoimmune diseases can affect the central nervous system (CNS), and variable clinical presentations confound the differential diagnosis. The challenging task of properly characterizing various CNS autoimmune diseases enables patients to be rapidly triaged and appropriately treated. In this review article, we aim to explore different CNS manifestations of rheumatologic diseases with emphasis on the utility of imaging and cerebrospinal fluid findings. We review the classic physical examination findings, characteristic imaging features, cerebrospinal fluid results, and serum biomarkers. In addition, we also present a unique case of newly described autoimmune entity CLIPPERS syndrome. Our case is unique in that this is the first case which demonstrates involvement of the supratentorial perivascular spaces in addition to the classic infratentorial involvement as initially described by Pittock et al (Brain. 2010;133:2626-2634).

  15. Clinical trials in nuclear medicine: Present and future; Les essais cliniques en medecine nucleaire: etat et perspectives

    Energy Technology Data Exchange (ETDEWEB)

    Chaumet-Riffaud, P. [Medecine nucleaire, centre hospitalier de Kremlin-Bicetre, Kremlin-Bicetre, (France); Cachin, F. [EA 4231, medecine nucleaire, CRLCC Jean-Perrin, faculte de medecine, Clermont-Ferrand, (France); Couturier, O. [Inserm U646, departement de medecine nucleaire, CHU d Angers, Angers, (France); Desruet, M.D. [Pole d imagerie clinique de biophysique et medecine nucleaire, Paris, (France); Radiopharmacie, unite Inserm 877, hopital Michallon, CHU de Grenoble, BP217, 38043 Grenoble cedex 9, (France); Kraeber-Bodere, F. [Inserm UMR 601, CHU/CLCC Rene-Gauducheau, Nantes, (France); Talbot, J.N. [Medecine nucleaire, hopital Tenon, Paris, (France); Vuillez, J.P. [Radiopharmacie, unite Inserm 877, hopital Michallon, CHU de Grenoble, BP217, 38043 Grenoble cedex 9, (France)

    2009-05-15

    The particular status of radiopharmaceuticals, together with the positioning of nuclear medicine in multidisciplinary approach of oncology, lead to real difficulties for conception, validation and granting of clinical trials which are necessary for demonstrating clinical interest of new compounds, for diagnosis as well as for therapeutic use. This article is a presentation of some recent clinical trials conducted in nuclear medicine in France, showing its dynamism but also pointing out some encountered difficulties. These experiences could lead to reflexion in order to improve the clinical research performances, taking into account a scientific and regulatory context more and more constraining. (authors)

  16. Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region

    OpenAIRE

    Nurgul Ceran; Recai Turkoglu; Ilknur Erdem; Asuman Inan; Derya Engin; Hulya Tireli; Pasa Goktas

    2011-01-01

    Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, s...

  17. Juvenile nasopharyngeal angiofibroma: Clinical diagnosis and treatment experience

    Directory of Open Access Journals (Sweden)

    Sladoje Radmila

    2002-01-01

    Full Text Available Juvenile nasopharyngeal angiofibroma is an infrequent epi-pharyngeal tumor necessitating particular diagnostic and therapeutic procedures in comparison to other benign epipharyngeal tumors due to its expansive growth tendency. Our retrospective study is aimed at presenting clinical casuistry of the tumor in order to evaluate modern diagnostic and therapeutic possibilities. The study included 13 male patients, aged 13-24 years, who were hospitalized, diagnostically assessed and surgically treated at the Institute of Otorhinolaryngology and Maxillofacial Surgery, Clinical Centre of Serbia over the period 1990 - June 2001. The following parameters were analyzed: sex, age groups, preoperative symptoms of the disease, diagnostic methods, embolization, local tumor spreading, number and time of tumor relapses and surgical approach.

  18. Tracheobronchopathia osteochondroplastica presenting as a respiratory insufficiency: diagnosis by bronchoscopy and MRI

    Energy Technology Data Exchange (ETDEWEB)

    Hantous-Zannad, S. E-mail: saoussen.hantous@rns.tn; Sebaie, L.; Zidi, A.; Ben Khelil, J.; Mestiri, I.; Besbes, M.; Hamzaoui, A.; Ben Miled-M' rad, K

    2003-02-01

    Tracheobronchopathia osteochondroplastica (TO) is a rare benign disorder affecting the trachea and occasionally the bronchi. We report a case of TO presenting as a respiratory insufficiency. Chest radiograh revealed an irregular narrowing of the intra thoracic trachea and a parenchymal consolidation of the left lower lobe. Magnetic resonance examination of the chest showed a diffuse irregular thickening of the trachea and central bronchi, which had an intermediate signal intensity with punctiform low signal intensity suggesting calcifications and no contrast enhancement. The diagnosis was confirmed by bronchoscopy and biopsies.

  19. Clinical Presentation of General Paralysis of the Insane in a Dutch Psychiatric Hospital, 1924-1954.

    Science.gov (United States)

    Daey Ouwens, Ingrid M; Lens, C Elisabeth; Fiolet, Aernoud T L; Ott, Alewijn; Koehler, Peter J; Verhoeven, Willem M A

    2015-01-01

    General paralysis of the insane (GPI) or dementia paralytica was once a fatal complication of syphilitic infection and a major reason for psychiatric hospitalization. Nowadays, physicians consider GPI to be exceptional. It should be noted, however, that syphilis re-emerged worldwide at the turn of the 20th to 21st century and a revival of GPI can, therefore, be expected. Advanced diagnosis is crucial in that treatment in the early, inflammatory phase is warranted before irreversible tissue damage occurs. Therefore, a renewed clinical awareness of the broad spectrum of psychiatric and neurologic signs and symptoms of GPI is needed. In this historical cohort study, comprising 105 patients with GPI admitted to the Dutch Vincent van Gogh Psychiatric Hospital in the period 1924-1954, the clinical presentation of this invalidating disorder is investigated and described in detail.

  20. Burkitt's lymphoma: a child's case presenting in the maxilla. Clinical and radiological aspects.

    Science.gov (United States)

    Valenzuela-Salas, Borja; Dean-Ferrer, Alicia; Alamillos-Granados, Francisco-Jesús

    2010-05-01

    Burkitt's lymphoma (BL) is a neoplasm which, despite its very aggressive behaviour is potentially curable. It typically affects the paediatric population. BL belongs to the non-Hodgkin lymphomas group, and is the first human tumour undoubtedly related to a viral origin (Epstein-Barr virus). Two main clinical subtypes are recognized: endemic or African type, and sporadic type; HIV associated BL constitutes a third type. Although common in endemic BL, maxillary involvement is rare in sporadic cases. This, together with the clinical lack of specificity associated to this location, makes diagnosis difficult. New chemotherapeutic protocols achieve a high survival rate. Most important prognostic factors are location and tumour stage. We report a paediatric case of BL presenting in the maxilla, with a review and a description of the characteristics of the disease.

  1. Takotsubo cardiomyopathy systematic review: Pathophysiologic process, clinical presentation and diagnostic approach to Takotsubo cardiomyopathy.

    Science.gov (United States)

    Ono, Ryohei; Falcão, L Menezes

    2016-04-15

    Takotsubo cardiomyopathy (TTC) is characterized by transient left ventricular apical ballooning with the absence of coronary occlusion, which typically occurs in older women after emotional or physical stress. The pathophysiology of TTC is not well established, though several possible causes such as catecholamine cardiotoxicity, metabolic disturbance, coronary microvascular impairment and multivessel epicardial coronary artery spasm have been proposed. A number of diagnostic criteria have been suggested in the world and not unified as single, but the most common accepted one is Mayo Clinic proposed criteria. Since the clinical presentation of TTC is usually similar to acute coronary syndrome, differential diagnosis is essential to exclude other diseases and also for its treatment. Imaging modality including echocardiogram, angio CT and cardiac MRI, and lab tests for catecholamine, troponin T, creatine kinase MB and B-type natriuretic peptide can be useful to differentiate TTC from other diseases. Prognosis is generally favorable and in-hospital mortality is from 0% to within 10%.

  2. An atypical clinical presentation of acute appendicitis in a young man with midgut malrotation

    Energy Technology Data Exchange (ETDEWEB)

    Pinto, Antonio [Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Piazza delle Cliniche no 2, 90127 Palermo (Italy)]. E-mail: pinto@neomedia.it; Di Raimondo, Domenico [Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Piazza delle Cliniche no 2, 90127 Palermo (Italy); Tuttolomondo, Antonino [Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Piazza delle Cliniche no 2, 90127 Palermo (Italy); Fernandez, Paola [Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Piazza delle Cliniche no 2, 90127 Palermo (Italy); Caronia, Aurelio [Dipartimento di Biotecnologie Mediche - Sezione di Radiologia, University of Palermo, Via del Vespro no 129, 90127 Palermo (Italy); Lagalla, Roberto [Dipartimento di Biotecnologie Mediche - Sezione di Radiologia, University of Palermo, Via del Vespro no 129, 90127 Palermo (Italy); Arnao, Valentina [Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Piazza delle Cliniche no 2, 90127 Palermo (Italy); Law, Robert L. [Department of Radiology, Frenchay Hospital, Bristol (United Kingdom); Licata, Giuseppe [Dipartimento Biomedico di Medicina Interna e Specialistica, University of Palermo, Piazza delle Cliniche no 2, 90127 Palermo (Italy)

    2007-05-15

    Midgut malrotation occurs as a result of failure in normal intestinal rotation and fixation during early pregnancy. Pathological conditions reported in the literature involving midgut malrotation predominantly relate to infants and children. In adults malrotation is often revealed as an incidental finding on computed tomography (CT), or the associated altered anatomy can be the cause of atypical clinical symptoms of relatively common intestinal disorders. An unusual presentation of acute appendicitis, with fever and recurrent pain in left iliac fossa is reported. Underlying intestinal malrotation delayed the correct clinical diagnosis of acute appendicitis. It was not until a CT scan was performed that a malrotation was identified. The predominant appearances of malrotation are the siting of the ascending colon, caecum (and appendix) in the left side of the abdomen and the right-sided placement of the duodenojejunal junction.

  3. AMERICAN CUTANEOUS LEISHMANIASIS WITH UNUSUAL CLINICAL PRESENTATION AND RESPONSE TO TREATMENT

    Directory of Open Access Journals (Sweden)

    Andrea Claudia Bekner Silva FERNANDES

    2016-01-01

    Full Text Available The clinical manifestations and prognosis of cutaneous leishmaniasis (CL can be influenced by the immune response of the patient and the species of the parasite. A case of atypical clinical presentation of CL, with development of non-characteristic lesions, poor response to therapy, and a long time to resolution is reported. Confirmatory laboratory tests included parasite detection, indirect immunofluorescence, Montenegro skin test, polymerase chain reaction, and parasite identification by multilocus enzyme electrophoresis. The parasite was identified as Leishmaniabraziliensis. The lesion was unresponsive to three complete courses of N-methylglucamine antimoniate intramuscular, and to treatment with pentamidine. The patient did not tolerate amphotericin B. The lesion finally receded after treatment with intravenous N-methylglucamine antimoniate. It is essential to ensure the accuracy of diagnosis and the appropriate treatment, which can include the use a second choice drug or a different route of administration.

  4. Trichotillomania: a case report with clinical and dermatoscopic differential diagnosis with alopecia areata*

    Science.gov (United States)

    Pinto, Ana Cecília Versiani Duarte; de Andrade, Tatiana Cristina Pedro Cordeiro; de Brito, Fernanda Freitas; da Silva, Gardênia Viana; Cavalcante, Maria Lopes Lamenha Lins; Martelli, Antonio Carlos Ceribelli

    2017-01-01

    Trichotillomania is a psychodermatologic disorder characterized by uncontrollable urge to pull one's own hair. Differential diagnoses include the most common forms of alopecia such as alopecia areata. It is usually associated with depression and obsessive-compulsive disorder. Trichotillomania treatment standardization is a gap in the medical literature. Recent studies demonstrated the efficacy of N-acetylcysteine (a glutamate modulator) for the treatment of the disease. We report the clinical case of a 12-year-old female patient who received the initial diagnosis of alopecia areata, but presented with clinical and dermoscopic features of trichotillomania. She was treated with the combination of psychotropic drugs and N-acetylcysteine with good clinical response. Due to the chronic and recurring nature of trichotillomania, more studies need to be conducted for the establishment of a formal treatment algorithm. PMID:28225970

  5. Clinical practice. Diagnosis and treatment of cow's milk allergy

    NARCIS (Netherlands)

    Kneepkens, C. M. Frank; Meijer, Yolanda

    2009-01-01

    Introduction Cow's milk allergy (CMA) is thought to affect 2-3% of infants. The signs and symptoms are nonspecific and may be difficult to objectify, and as the diagnosis requires cow's milk elimination followed by challenge, often, children are considered cow's milk allergic without proven diagnosi

  6. Delay in diagnosis amongst carcinoma lung patients presenting at a tertiary respiratory centre

    Directory of Open Access Journals (Sweden)

    Ruchi Sachdeva

    2014-01-01

    Full Text Available Objective: To determine time delay from the onset of initial symptoms to diagnosis of primary lung cancer. Materials and Methods: Selected information was captured from 49 consecutive pathologically proven cancer lung patients presenting to a tertiary respiratory centre during 1 st January to 30 th June 2012 using semi-structured interview schedule. All patients underwent suitable protocol based diagnostic work-up and referral. Results: Background profile of patient was as follows: Male:Female = 7.1:1; mean age was 61.2 (±9.7 years; Nine out of 49 (18.4% patients were illiterate; Forty-three out of 49 (87.8% belonged to rural native place; Forty-three out of 49 (87.7% were smokers with 25 years as median pack-years. Histological profile showed that adenocarcinoma (40.8% was the predominant form followed by small cell carcinoma (32.7%. Time (median delay in diagnosis was 3.0 days (home remedies/quack therapy, 60.0 days (primary/secondary level and 8 days at tertiary level. Twenty seven of 49 patients (55.1% presented in stage-IV. Higher proportion of patients residing outside the district of study institute had longer delay in diagnosis but did not reach statistical significance (P > 0.05. The most important patient reasons for the delay in diagnosis was procrastinate/did not took symptoms seriously (19/49, 38.7%; no-body to escort (13/49, 26.5%, long distance (5/49, 10.2%, financial constraints (4/49, 8.1%, preferred local practitioner (2/49, 4.0%, family commitment/marriage (2/49, 4.0%, fear of death (1/49, 2.0% and no reason cited (3/49, 6.1%. Three patients were inadvertently diagnosed as tuberculosis and hence the delay. Conclusion: Patient presented at a higher stage within a short span of time; however, there is scope of increasing health system capacity at primary/secondary level including sensitization training, health communication and appropriate referral to higher center.

  7. Accuracy of Clinical Diagnosis of Dengue Episodes in the RV144 HIV Vaccine Efficacy Trial in Thailand.

    Directory of Open Access Journals (Sweden)

    Punnee Pitisuttithum

    Full Text Available RV144 was a community-based HIV vaccine efficacy trial conducted in HIV-uninfected adults in Thailand, where dengue virus continues to cause a large number of infections every year. We attempted to document the accuracy of clinically diagnosed dengue episodes reported as serious adverse events (SAEs and adverse events (AEs and examine whether dengue serology would support the clinical diagnosis. Subjects without a clinical dengue diagnosis but with an infection or idiopathic fever were selected as a control population. Dengue serology was performed by hemagglutination inhibition on plasma samples. A total of 124 clinical dengue episodes were reported (103 SAEs and 21 AEs. Overall 82.6% of the clinically diagnosed dengue episodes were supported by a positive dengue serology: 71.4% of the AEs and 85.0% of the SAEs. Of the 100 subjects with both clinical dengue and positive serology, all presented with fever, 83% with leucopenia, 54% with thrombocytopenia, and 27% with hemorrhagic symptoms. All episodes resolved spontaneously without sequellae. Only two of 15 subjects with a negative serology presented with fever. The sensitivity and specificity of clinical dengue diagnosis were 90.9% and 74.4%, respectively, when compared to the control population, and with a positive predictive value of 82.6% and negative predictive value of 84.7% when compared to dengue serology. Clinical diagnosis of dengue is an accurate method of dengue diagnosis in adults in Thailand. Large-scale clinical trials offer the opportunity to systematically study infectious diseases such as dengue and other infections that may occur during the trial.

  8. Accuracy of Clinical Diagnosis of Dengue Episodes in the RV144 HIV Vaccine Efficacy Trial in Thailand.

    Science.gov (United States)

    Pitisuttithum, Punnee; Rerks-Ngarm, Supachai; Stablein, Donald; Dawson, Peter; Nitayaphan, Sorachai; Kaewkungwal, Jaranit; Michael, Nelson L; Kim, Jerome H; Robb, Merlin L; O'Connell, Robert J; Yoon, In-Kyu; Fernandez, Stefan; Excler, Jean-Louis

    2015-01-01

    RV144 was a community-based HIV vaccine efficacy trial conducted in HIV-uninfected adults in Thailand, where dengue virus continues to cause a large number of infections every year. We attempted to document the accuracy of clinically diagnosed dengue episodes reported as serious adverse events (SAEs) and adverse events (AEs) and examine whether dengue serology would support the clinical diagnosis. Subjects without a clinical dengue diagnosis but with an infection or idiopathic fever were selected as a control population. Dengue serology was performed by hemagglutination inhibition on plasma samples. A total of 124 clinical dengue episodes were reported (103 SAEs and 21 AEs). Overall 82.6% of the clinically diagnosed dengue episodes were supported by a positive dengue serology: 71.4% of the AEs and 85.0% of the SAEs. Of the 100 subjects with both clinical dengue and positive serology, all presented with fever, 83% with leucopenia, 54% with thrombocytopenia, and 27% with hemorrhagic symptoms. All episodes resolved spontaneously without sequellae. Only two of 15 subjects with a negative serology presented with fever. The sensitivity and specificity of clinical dengue diagnosis were 90.9% and 74.4%, respectively, when compared to the control population, and with a positive predictive value of 82.6% and negative predictive value of 84.7% when compared to dengue serology. Clinical diagnosis of dengue is an accurate method of dengue diagnosis in adults in Thailand. Large-scale clinical trials offer the opportunity to systematically study infectious diseases such as dengue and other infections that may occur during the trial.

  9. Inflammatory myopathy: diagnosis and clinical course, specific clinical scenarios and new complementary tools.

    Science.gov (United States)

    Selva-O'Callaghan, Albert; Trallero-Araguás, Ernesto; Martínez, Maria Angeles; Labrador-Horrillo, Moises; Pinal-Fernández, Iago; Grau-Junyent, Josep Maria; Juárez, Candido

    2015-06-01

    Idiopathic inflammatory myopathies are a heterogeneous group of rare autoimmune diseases characterized by symmetric proximal muscle weakness and inflammatory infiltrates on muscle biopsy. A meticulously collected combination of clinical, serological, and pathological data is essential to correctly diagnose and classify myositis patients, often a considerable challenge for clinicians. This article provides a comprehensive overview of the most useful tools for the diagnosis and follow-up of patients with myositis. Capillaroscopy, serological biomarkers (particularly the autoantibody profile) and imaging techniques, such as muscle magnetic resonance and chest ultrasound, are of great aid in diagnosing, classifying and managing these patients. Relevant clinical scenarios, such as interstitial lung disease, associated cancer and pregnancy are also addressed in this review. Myositis registries, identification of new autoantibodies, and genetic studies will enhance our understanding of the pathogenesis of these conditions and help to define new diagnostic and therapeutic approaches.

  10. Use of procalcitonin for the diagnosis of pneumonia in patients presenting with a chief complaint of dyspnoea: results from the BACH (Biomarkers in Acute Heart Failure) trial

    Science.gov (United States)

    Maisel, Alan; Neath, Sean-Xavier; Landsberg, Judd; Mueller, Christian; Nowak, Richard M.; Peacock, W. Frank; Ponikowski, Piotr; Möckel, Martin; Hogan, Christopher; Wu, Alan H.B.; Richards, Mark; Clopton, Paul; Filippatos, Gerasimos S.; Di Somma, Salvatore; Anand, Inder; Ng, Leong L.; Daniels, Lori B.; Christenson, Robert H.; Potocki, Mihael; McCord, James; Terracciano, Garret; Hartmann, Oliver; Bergmann, Andreas; Morgenthaler, Nils G.; Anker, Stefan D.

    2012-01-01

    Aims Biomarkers have proven their ability in the evaluation of cardiopulmonary diseases. We investigated the utility of concentrations of the biomarker procalcitonin (PCT) alone and with clinical variables for the diagnosis of pneumonia in patients presenting to emergency departments (EDs) with a chief complaint of shortness of breath. Methods and results The BACH trial was a prospective, international, study of 1641 patients presenting to EDs with dyspnoea. Blood samples were analysed for PCT and other biomarkers. Relevant clinical data were also captured. Patient outcomes were assessed at 90 days. The diagnosis of pneumonia was made using strictly validated guidelines. A model using PCT was more accurate [area under the curve (AUC) 72.3%] than any other individual clinical variable for the diagnosis of pneumonia in all patients, in those with obstructive lung disease, and in those with acute heart failure (AHF). Combining physician estimates of the probability of pneumonia with PCT values increased the accuracy to >86% for the diagnosis of pneumonia in all patients. Patients with a diagnosis of AHF and an elevated PCT concentration (>0.21 ng/mL) had a worse outcome if not treated with antibiotics (P = 0.046), while patients with low PCT values (<0.05 ng/mL) had a better outcome if they did not receive antibiotic therapy (P = 0.049). Conclusion Procalcitonin may aid in the diagnosis of pneumonia, particularly in cases with high diagnostic uncertainty. Importantly, PCT may aid in the decision to administer antibiotic therapy to patients presenting with AHF in which clinical uncertainty exists regarding a superimposed bacterial infection. Trial registration: NCT00537628 PMID:22302662

  11. Early diagnosis and minimally invasive treatment of occlusal caries--a clinical approach.

    Science.gov (United States)

    Brostek, Andrew

    2004-01-01

    This report summarizes the clinical experiences and recommendations for use of the KaVo DIAGNOdent laser fluorescence device and of air abrasion (Kinetic cavity preparation). A major diagnostic problem facing clinicians today is the difficulty of achieving accurate occlusal caries diagnosis. Diagnostic accuracy is important because it determines the quality of the treatment decisions made, particularly with regard to the possibility of unnecessary operative intervention. The decrease in incidence of cavitated caries in Western countries, followed by the change in common presentation to non-cavitated caries, has made this accurate diagnosis more difficult. The deficiencies of using traditional methods of occlusal diagnosis are discussed and examined, along with the need for new, more accurate techniques. The use of the new technology of laser fluorescence is explained in detail with a discussion of the advantages and limitations of a commercial device: the KaVo DIAGNOdent. A minimal cavity outline philosophy is suggested for operative intervention, with particular emphasis on the advantages of using Kinetic cavity preparation (KCP) non-rotary method of tooth cutting. It should be noted that treatment options such as operative intervention should never precede adequate diagnosis and the use of preventive treatments such as sealants, should be utilized where indicated.

  12. Generalized anxiety disorder: clinical presentation, diagnostic features, and guidelines for clinical practice.

    Science.gov (United States)

    van der Heiden, Colin; Methorst, Gerda; Muris, Peter; van der Molen, Henk T

    2011-01-01

    Generalized anxiety disorder (GAD) is a prevalent and disabling disorder characterised by persistent worrying, anxiety symptoms, and tension. General practitioners and mental healthcare professionals frequently misdiagnose the presenting symptoms. This article addresses the clinical presentation of GAD and provides guidelines for discriminating GAD from other disorders, based on theoretical considerations and clinical experience. Debate relating to the validity of the definition of GAD is discussed, and suggestions are made for improving the criteria for GAD, which may guide future versions of classification systems such as the Diagnostic and Statistical Manual.

  13. Relationship between coronary arterial remodeling and clinical presentation

    Institute of Scientific and Technical Information of China (English)

    杨震坤; 沈卫峰; 张大东

    2003-01-01

    Objective To examine the relationship between coronary arterial remodeling and clinical presentation. Methods A total of 34 patients with acute (10 with recent myocardial infarction and 24 with unstable angina) and 26 with stable (8 with old myocardial infarction and 18 with stable angina) coronary syndrome underwent intravascular ultrasound (IVUS) before intervention. Target lesions were classified as soft or hard plaques. Q uantitative measurements of cross-sectional area (CSA) of external elastic memb rane (EEM), lumen and plaque were performed at the lesion site and at the proxim al and distal reference sites. Remodeling index (RI) was expressed by the ratio of EEM CSA at the lesion site to the mean EEM CSA of both proximal and distal r eference sites. Positive remodeling was defined as RI>1.05 and negative remode ling as RI<0.95. Results Soft plaque was observed more frequently in acute than in stable coronary syndrome (59% vs 31%), whereas hard plaque was more common in stable coronary syndrome (69% vs 41%) (P=0.03). The EEM CSA (15.11±2.89 mm2 vs 13.25±3.10 mm2, P=0.019) and plaque CSA (10.83±2.62 mm2 vs 9.30±2.84 mm 2, P =0.035) were significantly greater at target lesions in patients with acute r ather than stable coronary syndrome, while lumen CSA and percent area stenosis w ere similar in both groups. RI was significantly higher (1.08±0.16 vs 0.95 ±0.14, P=0.002) and positive remodeling was more frequent in acute corona ry syndrome (53% vs 23%, P=0.019), whereas negative remodeling was more com mon in stable coronary syndrome (58% vs 24%, P=0.007). Conclusions The study indicates that clinical characteristics of patients with coronary artery disease depend largely upon underlying types of coronary arterial remodeling .

  14. Tattoo complaints and complications: diagnosis and clinical spectrum.

    Science.gov (United States)

    Serup, Jørgen; Carlsen, Katrina Hutton; Sepehri, Mitra

    2015-01-01

    Tattoos cause a broad range of clinical problems. Mild complaints, especially sensitivity to sun, are very common and seen in 1/5 of cases. Medical complications are dominated by allergy to tattoo pigment haptens or haptens generated in the skin, especially in red tattoos but also in blue and green tattoos. Symptoms are major and can be compared to cumbersome pruritic skin diseases. Tattoo allergies and local reactions show distinct clinical manifestations, with plaque-like, excessive hyperkeratotic, ulcero-necrotic, lymphopathic, neuro-sensory, and scar patterns. Reactions in black tattoos are papulo-nodular and non-allergic and associated with the agglomeration of nanoparticulate carbon black. Tattoo complications include effects on general health conditions and complications in the psycho-social sphere. Tattoo infections with bacteria, especially staphylococci, which may be resistant to multiple antibiotics, may be prominent and may progress into life-threatening sepsis. Contaminated tattoo ink is an open-window risk vector that can lead to epidemic tattoo infections across national borders due to contaminated bulk production. Hepatitis B and C and human immunodeficiency virus (HIV) transferred by tattooing remain a significant risk needing active prevention. It is noteworthy that cancer arising in tattoos, in regional lymph nodes, and in other organs due to tattoo pigments and ingredients has not been detected or noted as a significant clinical problem hitherto, despite millions of people being tattooed for decennia. Clinical observation and epidemiology disagree with register data, which indicate an increased risk of cancer due to chemical carcinogens present in some inks. Registers rely on chronic dosaging of cell lines and animals. However, tattooing in humans is essentially a single-dose exposure, which might explain the observed discrepancy.

  15. Clinical Manifestations, Diagnosis, and Empirical Treatments for Catatonia

    OpenAIRE

    Bhati, Mahendra T.; Datto, Catherine J; O'Reardon, John P.

    2007-01-01

    Objective: Review the medical literature on the history and clinical features of catatonia so as to provide a contemporary clinical guide for successfully diagnosing and treating the various clinical forms of catatonia.

  16. Overactive bladder, differential diagnosis, and clinical utility of fesoterodine

    Directory of Open Access Journals (Sweden)

    Wyndaele J-J

    2012-11-01

    Full Text Available Jean-Jacques WyndaeleDepartment of Urology, Antwerp University, Antwerp, BelgiumAbstract: Overactive bladder is a symptom syndrome with urgency, frequency and, in many cases, nocturia. Urge incontinence is not present in all. There is no direct correlation with detrusor overactivity, an objective finding during urodynamic testing where involuntary contractions can be noticed. In the pathophysiology, much more attention has been given to the afferent/sensory arm of the micturition reflex in the last decade. Anatomical and infectious causes have to be diagnosed or ruled out. Diagnosis of overactive bladder is made mostly by history-taking, but other tests can be necessary in specific patients. Treatment consists of behavioral measures, a good explanation of the condition, training, and pelvic floor physiotherapy. Drugs are often used. Until recently, antimuscarinic drugs have been the mainstay of pharmacological therapy. Fesoterodine is a newer antimuscarinic agent which is more pharmacodynamically stable then tolterodine. Fesoterodine has been extensively researched using different dosages and compared with placebo and tolterodine, in different age groups, and under different conditions. Fesoterodine is superior to placebo and to tolterodine in the short term and long term. Its safety is very acceptable.Keywords: overactive bladder, fesoterodine, incontinence, urgency, lower urinary tract

  17. Clinical Guidelines for the Diagnosis and Treatment of Cushing's Disease in Korea

    Directory of Open Access Journals (Sweden)

    Kyu Yeon Hur

    2015-03-01

    Full Text Available Cushing's disease (CD is a rare disorder characterized by the overproduction of adrenocorticotropic hormone due to a pituitary adenoma that ultimately stimulates excessive cortisol secretion from the adrenal glands. Prior to the detection of pituitary adenomas, various clinical signs of CD such as central obesity, moon face, hirsutism, and facial plethora are usually already present. Uncontrolled hypercortisolism is associated with metabolic, cardiovascular, and psychological disorders that result in increased mortality. Hence, the early detection and treatment of CD are not only important but mandatory. Because its clinical manifestations vary from patient to patient and are common in other obesity-related conditions, the precise diagnosis of CD can be problematic. Thus, the present set of guidelines was compiled by Korean experts in this field to assist clinicians with the screening, diagnoses, and treatment of patients with CD using currently available tests and treatment modalities.

  18. Synergism of clinical evaluation and penile sonographic imaging in diagnosis of penile fracture: a case report

    Directory of Open Access Journals (Sweden)

    Bello Jibril

    2012-09-01

    Full Text Available Abstract Introduction Penile fracture is an uncommon urologic emergency, and is the traumatic rupture of the tunica albuginea covering the corpus cavernosa. This usually occurs following blunt trauma sustained during coitus, masturbation or self-manipulations to hide or suppress an erection. Clinical diagnosis can often be easily made with typical history and examination findings. However, the patient may present atypically and/or with a suspicion of associated urethral injury. The roles of various diagnostic investigations are being evaluated in these situations. Case presentation We report the case of a 31-year-old African man with penile fracture and suspected associated urethral injury that occurred after self-manipulations to hide an erection. Conclusions Penile ultrasound and sonourethrography provide useful additional diagnostic information to supplement clinical history and physical examination findings and can be performed easily, at low cost and with no delays to surgery.

  19. Massive retroperitoneal ganglioneuroma presenting with small bowel obstruction 18 years following initial diagnosis.

    LENUS (Irish Health Repository)

    Cronin, E M P

    2012-02-03

    BACKGROUND: Ganglioneuroma is a rare tumour of neural crest origin, which arises from maturation of a neuroblastoma. While previously considered to be non-functioning, they are now known to be frequently endocrinologically active. AIMS AND METHODS: We report a case of a massive retroperitoneal ganglioneuroma presenting with small bowel obstruction in an adult, 18 years after initial diagnosis. Urinary dopamine levels were elevated, but other catecholamines were within normal limits. This is the first report in the English-language literature of a retroperitoneal ganglioneuroma presenting with or causing intestinal obstruction. We also review the metabolic, radiological, and histological features of these tumours. Relevant publications were identified from a Medline search using the MeSH headings \\'ganglioneuroma\\

  20. The accuracy of ultrasonography in the diagnosis of superficial bladder tumors in patients presenting with hematuria

    Science.gov (United States)

    Stamatiou, Konstantinos; Papadoliopoulos, Ioannis; Dahanis, Stefanos; Zafiropoulos, Grigoris; Polizois, Konstantinos

    2009-01-01

    Ultrasonography has been proposed as the initial test for detection of bladder carcinomas in patients presenting with hematuria, but the accuracy of transabdominal ultrasonography in the diagnosis of superficial bladder carcinoma has not been assessed. We prospectively evaluated 173 patients presenting to the outpatient department with painless hematuria by transabdominal ultrasound and cystoscopy. The tolerability of cystoscopy was also assessed. Of 148 patients who met the inclusion criteria, 39 with bladder carcinoma were identified by cystoscopy as having bladder carcinoma, while 34 were identified by ultrasonography. For ultrasonography, the sensitivity (87.1%), specificity (98.1%), positive predictive value (94.4%) and negative predictive value (95.4%) were good but not as good as cystoscopy. While the tolerability of cystoscopy is relatively low, it is still superior to ultrasonography in the evaluation of the bladder as a possible source of hematuria. PMID:19318748

  1. Time from first presentation of symptoms in primary care until diagnosis of cancer: Association with mortality

    DEFF Research Database (Denmark)

    Tørring, Marie Louise

    and then an increasing mortality with longer diagnostic intervals. This u-shaped association did apply to patients presenting with vague symptoms. In Paper II, we explore potential biases from using different methods of pinpointing the date of first attendance to medical care and retest the hypothesis of a u...... and variations in the potential for bias, the association was the same: displaying a decreasing and subsequently an increasing mortality with longer diagnostic intervals. In Paper III, we assess the association between the length of the diagnostic interval and five-year mortality after diagnosis of colorectal......, lung, melanoma skin, breast or prostate cancer while taking account of cancer-specific effects, important confounding factors, and lead-time bias. We saw a u-shaped association for patients with alarm or any serious symptoms. In patients presenting with vague symptoms, the association was reverse...

  2. 青少年起病的成人型糖尿病5例基因诊断及临床特征%The molecular diagnosis and their detailed clinical presentations in 5 cases of maturity-onset diabetes of the young

    Institute of Scientific and Technical Information of China (English)

    刘子勤; 宋福英; 刘颖; 邱明芳; 钱晔; 陈晓波

    2016-01-01

    和成人可能有所不同.%Objective To analyze the genetic changes and detailed clinical presentations of 5 maturity-onset diabetes of the young (MODY) cases in order to enhance the knowledge about MODY in children.Methods Seventy-eight patients initially diagnosed as diabetes mellitus between January 1 and December 31,2015 in Capital Institute of Pediatrics were retrospectively studied.Nine of them were suspected of MODY,and 5 patients were diagnosed as MODY through gene test.Clinical informations were collected including age,gender,main complaint,family history,body mass index (BMI),fasting blood glucose,fasting blood insulin,2-hour blood glucose and insulin after oral glucose tolerance test and glycosylated hemoglobin.The blood glucose was monitored dynamically in 2 patients.Targeted capture panel was designed to capture the 16 genes related to MODY,including 12 genes from MODY1 to MODY13 type and 4 genes with weak evidence of MODY according to Human Gene Mutation Database Exome capture,and Next-Generation sequencing on a HiSeq2000 (Illumina) was performed.After bioinformatics analysis,all prioritized variants detected in patients were validated by Sanger sequencing,including the probands and their parents.Results Five patients were confirmed as MODY by molecular diagnosis,accounting for 6.4% of all the 78 patients in 2015.The ratio of male to female was 2 ∶ 3.The ages at diagnosis ranged from 2 to 11 years old,and the median age was 3 years old.Two cases were found to have abnormal blood glucose in physical examination.The rest 3 cases were discovered with abnormal blood glucose during hospitalization because of pneumonia (1 case)or diarrhea (2 cases).In 4 cases,their mothers had gestational diabetes history,in 1 case the father suffering from diabetes.BMI ranged 15.68-23.40 kg/m2.Fasting blood glucose was 6.3-7.2 mmol/L.Fasting blood insulin was 0.5-8.0 IU/L.Glucose tolerance test results showed that blood glucose of the patients was 8.6-10.8 mmol/L after 2 hours.The level of glycosylated

  3. Molecular detection of intestinal parasites for clinical diagnosis and epidemiology

    NARCIS (Netherlands)

    Hove, Robert Jan ten

    2009-01-01

    The detection of intestinal parasitic infections for routine diagnosis and for epidemiological research still depends mainly on microscopical examination of stool samples for the identification of helminth eggs and protozoan trophozoites and cysts. Because microscopy has several limitations, additio

  4. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.

    Science.gov (United States)

    Al-Hassnan, Zuhair N; Rashed, Mohamed S; Al-Dirbashi, Osama Y; Patay, Zoltan; Rahbeeni, Zuhair; Abu-Amero, Khaled K

    2008-01-15

    Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder caused by mutations in ORNT1 gene that encodes a mitochondrial ornithine transporter. It has variable clinical presentations with episodic hyperammonemia, liver dysfunction, and chronic neurological manifestations. In this work, we report the findings of HHH syndrome in 3 Saudi siblings. The 4-year-old proband presented with recurrent Reye-like episodes, hypotonia, and multiple stroke-like lesions on brain MRI. Biochemical and molecular analysis confirmed that she had HHH syndrome. She significantly improved on protein restriction and sodium benzoate. Her two older siblings have milder phenotypes with protein intolerance and learning problems. In comparison to their sister, their homocitrulline and orotic acid were only mildly elevated even before treatment. The three patients were homozygous for a novel mutation in ORNT1 with a Gly220Arg change. In view of the CNS lesions, which initially were felt to be suggestive of MELAS, we sequenced the entire mtDNA genome and no potential pathogenic mutations were detected. Analysis of ORNT2 did not provide explanation of the clinical and biochemical variability. This work presents a yet unreported CNS involvement pattern, notably multiple supratentorial stroke-like lesions in association with HHH syndrome. Moreover, it illustrates considerable clinical/biochemical correlation, and describes a novel mutation. We suggest including HHH syndrome in the differential diagnosis of patients found to have stroke-like lesions on brain MRI.

  5. Extramedullary Plasmacytoma Diagnosed in an HIV-Positive Patient by an Unusual Clinical Presentation

    Science.gov (United States)

    de Camargo Moraes, Paulo; Thomaz, Luiz Alexandre; Montalli, Victor Angelo Martins; Junqueira, José Luiz Cintra; Ribeiro, Camila Maria Beder

    2016-01-01

    The aim of this paper is to describe a case report of EMP in an HIV-positive patient. A 44-year-old, dark-skinned HIV-infected woman was referred to the Oral Diseases Treatment Center with a swelling at palate and left gingival fornix in the maxilla. Biopsy was taken and the oral lesion was diagnosed as EMP with well-differentiated plasma cells and restriction of the lambda light-chain. Skeletal survey was performed and no radiograph alterations were observed, thus supporting the diagnosis of EMP. Patient was referred to treatment and after two months of chemo and radiotherapy, an expanding lesion was observed in L5/S1 patient's vertebrae. Biopsy of the spinal lesion was consistent with lymphoma with plasmocitary differentiation, supporting the diagnosis of multiple myeloma (MM). Regarding the medical history, the final diagnostic was an oral extramedullary plasmacytoma with rapid progression into multiple myeloma. It is crucial to emphasize the relevance of HIV infection as a risk factor for both aggressive clinical behavior and unusual clinical presentation of extramedullary plasmacytoma cases. PMID:27980867

  6. Point-of-Care Diagnosis of Tuberculosis - Past, Present and Future

    DEFF Research Database (Denmark)

    Dheda, Keertan; Ruhwald, Morten; Theron, Grant

    2013-01-01

    Diagnosis represents only one aspect of tuberculosis (TB) control but is perhaps one of the most challenging. The drawbacks of current tools highlight several unmet needs in TB diagnosis i.e. necessity for accuracy, rapidity of diagnosis, affordability, simplicity, and the ability to generate same...

  7. Patients newly diagnosed with clinical type 2 diabetes mellitus but presenting with HbA1c within normal range: 19-year mortality and clinical outcomes

    DEFF Research Database (Denmark)

    Veloso, A.G.; Siersma, V.; Heldgaard, P.E.;

    2013-01-01

    AIMS: To investigate whether long-term mortality or clinical outcomes differed between patients diagnosed with type 2 diabetes mellitus and presenting with HbA1c within or above normal range at time of diagnosis. METHODS: Data were from a population-based sample of 1136 individuals with newly...... diagnosed type 2 diabetes mellitus. The diagnosis was confirmed with a single fasting whole blood/plasma glucose ≥7.0/8.0mmol/l. The median time from day of diagnosis until end of follow up was 18.8years. Patients were grouped according to normal HbA1c and elevated HbA1c at diagnosis. The effect of elevated...... HbA1c on a number of clinical outcomes and all-cause mortality was assessed in Cox regression models. RESULTS: At diagnosis, 97 patients (8.5%) had an HbA1c level within normal range. Age (mean (SD)) at diagnosis was 64.5 (11.5) years. Both unadjusted and adjusted hazard ratios for the effect of HbA1...

  8. Chagas Cardiomyopathy: Clinical Presentation and Management in the Americas.

    Science.gov (United States)

    Benziger, Catherine Pastorius; do Carmo, Gabriel Assis Lopes; Ribeiro, Antonio Luiz Pinho

    2017-02-01

    The initial infection of Chagas disease is typically asymptomatic, but approximately 30% of people will progress to a chronic cardiac form, and others develop the gastrointestinal form. Death is often sudden due to arrhythmias or progressive heart failure. Prevention through vector control programs and blood bank screening, along with strengthened surveillance systems and rapid information sharing, are key to decreasing disease burden globally. The epidemiology, diagnostic evaluation, diagnosis, and treatment of acute and chronic Chagas cardiac disease are discussed with focus on educating the primary care professionals and general cardiologists in nonendemic areas who have limited experience treating this disease.

  9. Metastatic Renal Cell Carcinoma Presenting as a Paranasal Sinus Mass: The Importance of Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    Massimo Ralli

    2017-01-01

    Full Text Available Metastases in the paranasal sinuses are rare; renal cell carcinoma is the most common cancer that metastasizes to this region. We present the case of a patient with a 4-month history of a rapidly growing mass of the nasal pyramid following a nasal trauma, associated with spontaneous epistaxis and multiple episodes of hematuria. Cranial CT scan and MRI showed an ethmoid mass extending to the choanal region, the right orbit, and the right frontal sinus with an initial intracranial extension. Patient underwent surgery with a trans-sinusal frontal approach using a bicoronal incision combined with an anterior midfacial degloving; histological exam was compatible with a metastasis of clear cell renal cell carcinoma. Following histological findings, a total body CT scan showed a solitary 6 cm mass in the upper posterior pole of the left kidney identified as the primary tumor. Although rare, metastatic renal cell carcinoma should always be suspected in patients with nasal or paranasal masses, especially if associated with symptoms suggestive of a systemic involvement such as hematuria. A correct early-stage diagnosis of metastatic RCC can considerably improve survival rate in these patients; preoperative differential diagnosis with contrast-enhanced imaging is fundamental for the correct treatment and follow-up strategy.

  10. Diagnosis and treatment of atypical presentations of hiatal hernia following bariatric surgery.

    Science.gov (United States)

    Flanagin, Brody A; Mitchell, Myrosia T; Thistlethwaite, William A; Alverdy, John C

    2010-03-01

    Bariatric surgery dramatically alters the normal stomach anatomy resulting in a significant incidence of hiatal hernia and gastroesophageal reflux disease. Although the majority of patients remain asymptomatic, many complain of severe heartburn refractory to medical management and additional highly atypical symptoms. Here, we describe the diagnosis and treatment regarding four cases of symptomatic hiatal hernia following bariatric surgery presenting with atypical symptoms in the University Hospital, USA. Four patients presented following laparoscopic Roux-en-Y gastric bypass or duodenal switch/pancreaticobiliary bypass (DS) with disabling and intractable midepigastric abdominal pain characterized as severe and radiating to the jaw, left shoulder, and midscapular area. The pain in all cases was described as paroxysmal and not necessarily associated with eating. All four patients also experienced nausea, vomiting, and failure to thrive at various intervals following laparoscopic bariatric surgery. Routine workup failed to produce any clear mechanical cause of these symptoms. However, complimentary use of multidetector CT and upper gastrointestinal contrast studies eventually revealed the diagnosis of hiatal hernia. Exploration identified the presence of a type I hiatal hernia in all four patients, with the stomach staple lines densely adherent to the diaphragm and parietal peritoneum. Operative intervention led to immediate and complete resolution of symptoms. The presence of a hiatal hernia following bariatric surgery can present with highly atypical symptoms that do not resolve without operative intervention. Recognition of this problem should lead to the consideration of surgery in cases where patients are dependent on artificial nutritional support and whose symptoms are poorly controlled with medication alone.

  11. University Clinic of Toxicology--historical note and present work.

    Science.gov (United States)

    Bozinovska, C

    2013-01-01

    The University Clinic of Toxicology (UCT) in Skopje was founded as the Clinic for Toxicology and Emergency Internal Medicine on January 15th 1976. Today UCT has a modern building with office space of 1,300 m2 on 4 floors, 40 hospital beds and 72 employees including 18 doctors. UCT works in accordance with the public healthcare services in the Republic of Macedonia through the use of specialist/consultative and hospital healthcare for people over the age of 14 years. The Clinic also provides services in the field of emergency internal medicine, acute poisoning with medications, pesticides, corrosives, poisonous gases and mushrooms, heavy metals and other chemicals. The Clinic takes an active part in the detoxification programme for users of opiates and psychotropic substances, protocols for enteral and parenteral nutrition and guides for home treatment. Yearly there are more than 14,000 ambulance admissions, over 1,400 hospitalized patients, over 4,000 urgent EHO checks, more than 1,000 urgent upper endoscopies and over 700 other toxicological analyses and other interventions. The educational services and activities are realized through the chair for internal medicine. The Clinic offers undergraduate and graduate level education for medical students and dentists, for medical nurses, radiology technicians, speech therapists and physiotherapists. Over 300 papers and reports have been published to date by the medical staff at the UCT in the form of abstracts and integrated projects in the Republic of Macedonia and aboard. 8 doctorates have been successfully completed by employees from the Clinic as well as 4 master's theses and 1 in-depth project. UCT employees are the authors of some textbooks and monographs. UCT have undertaken some scientific projects. Employees from the Clinic of Toxicology are members taking an active part in many domestic and international associations.

  12. Petechial Hemorrhage: A clinical diagnosis of neonatal Thrombocytopenia and sepsis

    Directory of Open Access Journals (Sweden)

    Deepak Kumar sharma

    2015-02-01

    Full Text Available A preterm female baby with birth weight of 1.5kg was referred to our hospital on day 6 for difficulty in breathing. Baby was admitted at birth for respiratory distress and feed intolerance to other hospital and in view of clinical deterioration baby was referred. Baby had thrombocytopenia with platelets counts of 11000/ mm3 and high CRP titer. Baby had petechial haemorrhagic spots all over the body with hepatosplenomegaly and sclerema (figure 1,2,3. Baby further platelets counts were 3000, 43000, 67000 and then normal. Baby was managed with antibiotics and platelets transfusion. Gradually baby counts improved and petechial spots disappeared. Discussion Neonatal Sepsis is a common complication in the neonatal intensive care unit. It is most common in the smallest and most premature infants in whom the clinical presentation can be subtle and nonspecific. Thrombocytopenia is the common manifestation of neonatal sepsis in sick babies(1. The manifestation can be seen in newborn as petechial spots over the body with predominance over chest and abdomen(2.Thrombocytopenia is seen in 18% to 35% of NICU patients, and in 73% of extremely low birth weight (ELBW infants(3. Bacterial,fungal and viral infection causes thrombocytopenia. Infection causes damage to vascular endothelium which increases the destruction of platelets and there removal by reticuloendothelial system(4

  13. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

    Science.gov (United States)

    Van Dijk, F S; Sillence, D O

    2014-06-01

    Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade on the genetic causes and biochemical processes leading to OI, this review focuses on the clinical classification of OI and elaborates on the newly proposed OI classification from 2010, which returned to a descriptive and numerical grouping of five OI syndromic groups. The new OI nomenclature and the pre-and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI. This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to evaluate the effect of therapy. A careful clinical description in combination with knowledge of the specific molecular genetic cause is the starting point for development and assessment of therapy in patients with heritable disorders including OI. © 2014 The Authors. American Journal of Medical Genetics Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

  14. Petechial Hemorrhage: A clinical diagnosis of neonatal Thrombocytopenia and sepsis

    Directory of Open Access Journals (Sweden)

    Deepak sharma

    2015-02-01

    Full Text Available A preterm female baby with birth weight of 1.5kg was referred to our hospital on day 6 for difficulty in breathing. Baby was admitted at birth for respiratory distress and feed intolerance to other hospital and in view of clinical deterioration baby was referred. Baby had thrombocytopenia with platelets counts of 11000/ mm3 and high CRP titer. Baby had petechial haemorrhagic spots all over the body with hepatosplenomegaly and sclerema (figure 1,2,3. Baby further platelets counts were 3000, 43000, 67000 and then normal. Baby was managed with antibiotics and platelets transfusion. Gradually baby counts improved and petechial spots disappeared. DiscussionNeonatal Sepsis is a common complication in the neonatal intensive care unit. It is most common in the smallest and most premature infants in whom the clinical presentation can be subtle and nonspecific. Thrombocytopenia is the common manifestation of neonatal sepsis in sick babies(1. The manifestation can be seen in newborn as petechial spots over the body with predominance over chest and abdomen(2.Thrombocytopenia is seen in 18% to 35% of NICU patients, and in 73% of extremely low birth weight (ELBW infants(3. Bacterial,fungal and viral infection causes thrombocytopenia. Infection causes damage to vascular endothelium which increases the destruction of platelets and there removal by reticuloendothelial system(4

  15. Clinical cancer research: the past, present and the future.

    Science.gov (United States)

    DeVita, Vincent T; Eggermont, Alexander M M; Hellman, Samuel; Kerr, David J

    2014-11-01

    In the past decade, we have witnessed unprecedented changes and some remarkable advances that have enabled true personalized medicine. Nevertheless, many challenges in clinical cancer research remain and need to be overcome if we are to witness similar progress in the next decade. Such hurdles include, but are not limited to, clinical development and testing of multiple agents in combination, design of clinical trials to best accommodate the ever increasing knowledge of heterogeneity of the disease, regulatory challenges relating to drug development and trial design, and funding for basic research. With this in mind, we asked four leading cancer researchers from around the world, and who have been associated with the journal since its launch in November 2004 what, in their opinion, we have learnt over the past 10 years and how we should progress in the next 10 years.

  16. From presentation to follow-up: diagnosis and treatment of cerebral venous thrombosis.

    Science.gov (United States)

    Bentley, J Nicole; Figueroa, Ramón E; Vender, John R

    2009-11-01

    Cerebral venous thrombosis is an uncommon cause of stroke but remains a challenge for physicians faced with this diagnosis largely due to the variability in presentation. Anticoagulation, typically with intravenous heparin, remains the mainstay of treatment for stable patients and is sufficient in the majority of cases. However, a significant mortality rate exists for cerebral venous thrombosis due to patients who deteriorate or do not adequately respond to initial treatments. It is in these patients that more aggressive interventions must be undertaken. The neurosurgeon is often called on, either acutely for initial evaluation of the stroke or venous hemorrhage or after the failure of initial therapy for clot evacuation, hemicraniectomy, or thrombectomy. A proper workup must include a search for an underlying, correctable cause as well as thorough follow-up with correction of identified risk factors to decrease the risk of recurrent disease.

  17. Necrotizing Myositis in a Neutropenic Patient: The Use of Ultrasound in the Diagnosis of Atypical Presentations

    Directory of Open Access Journals (Sweden)

    Maria Del Carmen Torrejón

    2014-01-01

    Full Text Available We report a case of fatal necrotizing soft tissue infection (NSTI due to Clostridium perfringens (CP in a neutropenic patient with diabetes mellitus. As in many cases, by the time a diagnosis was made, the condition had rapidly progressed to its late stages, resulting in a fatal outcome. The emergency physician should be aware of NSTI as a complication when patients present with pain out of proportion to physical findings and/or signs of soft tissue compromise. Negative prognostic factors for survival are diabetes mellitus, immunosuppression, age, and toxic shock syndrome. A bedside ultrasound scan allows for rapid evaluation in time-sensitive critically ill patients and can promote prompt treatment without the need to delay for further imaging studies.

  18. Hyponatraemia: an overview of frequency, clinical presentation and complications.

    LENUS (Irish Health Repository)

    Thompson, Chris

    2012-03-01

    Hyponatraemia (defined as a serum sodium concentration <136 mmol\\/L) is the most frequently encountered electrolyte disturbance in clinical practice. It is classified according to volume status (hypovolaemia, hypervolaemia or euvolaemia), reflecting the relative proportions of water and sodium within the body. The syndrome of inappropriate secretion of antidiuretic hormone (SIADH) is the most common cause of euvolaemic hyponatraemia. Although hyponatraemia is associated with poor prognosis and increased length of hospital stay, it is often poorly managed and sometimes underdiagnosed and undertreated. This article provides an overview of the frequency, pathophysiology and complications associated with this common clinical condition.

  19. Presentación clínica, diagnóstico y evolución a largo plazo en 29 pacientes con enfermedad de Wilson Clinical presentation, diagnosis, and long-term outcome of 29 patients with Wilson's disease

    Directory of Open Access Journals (Sweden)

    J. L. Rodrigo Agudo

    2008-08-01

    Full Text Available Objetivo: analizar las características clínicas, el tratamiento y evolución de los pacientes diagnosticados de enfermedad de Wilson (EW en la región de Murcia. Pacientes y método: se realizó un análisis retrospectivo de las historias clínicas de los 29 pacientes (edad media ± DE, 20,3 ± 13,4 años con EW diagnosticados en los últimos 16 años. Resultados: el motivo de consulta más frecuente fue el descubrimiento de transaminasas elevadas, en casi la mitad de los pacientes, seguido de temblor o distonía en el 17% respectivamente. El anillo de Kayser-Fleischer se objetivó en 17 de los 29 (58,6% pacientes (100% de los pacientes con afectación neurológica pura y en el 35,3% de los pacientes con clínica hepática pura; p Objective: to analyze the clinical characteristics, treatment, and follow-up of a cohort of 29 patients with Wilson's disease (WD within the region of Murcia. Patients and method: we reviewed the medical records of 29 cases of WD (mean age, 20.3 ± 13.4 years diagnosed during the last 16 years. Results: the most frequent reason for consultation was upon discovering a high transaminase level in almost half the patients, followed by tremors or dystonia in 17% of patients, respectively. A Kayser-Fleischer ring was observed in 17/29 (58.6% of patients (100% of patients with pure neurological involvement and 35% of patients with pure clinical hepatic disease; p < 0.001. Blood copper levels not associated with ceruloplasmin as well as cupruria were notably superior in patients with neurological symptoms and in those with liver cirrhosis at the time of diagnosis. Patient clinical symptoms remained stable with D-penicillamine or trientine, or improved during the observation period, for 18 out of 29 patients (62%, while 11 out of 29 patients (38% got worse. Conclusions: in our region patients with WD are diagnosed at a younger age, and in most cases for hepatic disease. Patients with neurological disease o liver cirrhosis had

  20. Bicipitoradial Bursitis: A Review of Clinical Presentation and Treatment

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    Tsz-Lung Choi

    2014-06-01

    Full Text Available The bicipitoradial bursa lies at the insertion of the biceps tendon on the radial tuberosity. It is an unusual site for chronic bursitis and most often results from repetitive mechanical trauma or overuse. Other causes include tuberculosis, immunological complications of rheumatological disease and synovial chondromatosis. Accurate diagnosis requires imaging studies and sometimes histological study. It can be treated conservatively with aspiration and steroid injection. Surgical excision of the bursa is indicated in the case of infection cause, failed conservative treatment with recurrence of the enlarged bursa and pain after aspiration, presence of nerve compression with neurological impairment, mechanical limitation to flexion, and extension of the elbow or biceps tendon degeneration and/or functional impairment.

  1. Risk factors for late-stage HIV disease presentation at initial HIV diagnosis in Durban, South Africa.

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    Paul K Drain

    Full Text Available After observing persistently low CD4 counts at initial HIV diagnosis in South Africa, we sought to determine risk factors for late-stage HIV disease presentation among adults.We surveyed adults prior to HIV testing at four outpatient clinics in Durban from August 2010 to November 2011. All HIV-infected adults were offered CD4 testing, and late-stage HIV disease was defined as a CD4 count <100 cells/mm(3. We used multivariate regression models to determine the effects of sex, emotional health, social support, distance from clinic, employment, perceived barriers to receiving healthcare, and foregoing healthcare to use money for food, clothing, or housing ("competing needs to healthcare" on presentation with late-stage HIV disease.Among 3,669 adults screened, 830 were enrolled, newly-diagnosed with HIV and obtained a CD4 result. Among those, 279 (33.6% presented with late-stage HIV disease. In multivariate analyses, participants who lived ≥5 kilometers from the test site [adjusted odds ratio (AOR 2.8, 95% CI 1.7-4.7], reported competing needs to healthcare (AOR 1.7, 95% CI 1.2-2.4, were male (AOR 1.7, 95% CI 1.2-2.3, worked outside the home (AOR 1.5, 95% CI 1.1-2.1, perceived health service delivery barriers (AOR 1.5, 95% CI 1.1-2.1, and/or had poor emotional health (AOR 1.4, 95% CI 1.0-1.9 had higher odds of late-stage HIV disease presentation.Independent risk factors for late-stage HIV disease presentation were from diverse domains, including geographic, economic, demographic, social, and psychosocial. These findings can inform various interventions, such as mobile testing or financial assistance, to reduce the risk of presentation with late-stage HIV disease.

  2. Gastric Intestinal Metaplasia: Prevalence, Clinical Presentation, Endoscopic and Histological Features

    OpenAIRE

    2016-01-01

    Background and Aim: Gastric intestinal metaplasia represents a risk factor for intestinal type of gastric cancer. Gastric intestinal metaplasia seems to be associated with Helicobacter pilory infection in relatives of patients with gastric cancer. The aim of this study was to determine the prevalence, clinical, endoscopic and histological features of gastric intestinal metaplasia.

  3. Gastric Intestinal Metaplasia: Prevalence, Clinical Presentation, Endoscopic and Histological Features

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    Drasovean Silvia Cosmina

    2016-03-01

    Full Text Available Background and Aim: Gastric intestinal metaplasia represents a risk factor for intestinal type of gastric cancer. Gastric intestinal metaplasia seems to be associated with Helicobacter pilory infection in relatives of patients with gastric cancer. The aim of this study was to determine the prevalence, clinical, endoscopic and histological features of gastric intestinal metaplasia.

  4. Integrated clinical-ultrasonographic diagnosis in acute appendicitis.

    Science.gov (United States)

    Summa, M; Perrone, F; Priora, F; Testa, S; Quarati, R; Spinoglio, G

    2007-12-01

    Sommario SCOPO: L'appendicite acuta è una delle urgenze chirurgiche addominali più comuni. Se non trattata, può rapidamente progredire verso complicanze severe, quali la perforazione e la peritonite. Spesso i chirurghi optano per un intervento chirurgico precoce anche in caso di diagnosi solo probabile, con il rischio di eseguire una quota importante di appendicectomie inutili. Lo scopo dello studio è di analizzare la nostra esperienza con la diagnosi integrata clinico-ultrasonografica dell'appendicite acuta. MATERIALI E METODI: Durante il periodo gennaio 1999-dicembre 2006 1447 pazienti sono stati sottoposti a valutazione clinica, a conta leucocitaria, dosaggio della proteina C reattiva ed ecografia addominale. È stata utilizzata la tecnica ecografia di compressione graduale, con sonda ad alta frequenza. RISULTATI: È stata formulata diagnosi ecografica di appendicite acuta in 368 pazienti (25%). Ulteriori 8 pazienti sono stati operati sulla base del solo giudizio clinico. Abbiamo osservato 7 casi di falsi positivi ecografici. In 1079 (75% del totale) pazienti è stato espresso un giudizio diagnostico negativo per appendicite acuta: in 173 di essi (12%) è stata formulata una diagnosi diversa. I restanti 906 pazienti sono stati sottoposti a controllo clinico fino alla risoluzione della sintomatologia, senza alcuna complicanza. I nostri risultati hanno dimostrato una sensibilità dell'ecografia del 98%, una specificità del 99%, un valore predittivo positivo del 98% e un valore predittivo negativo del 99%. L'accuratezza diagnostica globale è stata del 99%. CONCLUSIONI: La diagnosi integrata (clinica, di laboratorio ed ecografica) dell'appendicite acuta consente una diagnosi sicura, con risparmio di risorse evitando il ricorso ad appendicectomie inutili.

  5. Diagnosis and treatment of clinically amyopathic dermatomyositis (CADM): a case series and literature review.

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    Gil, Bornstein; Merav, Lidar; Pnina, Langevitz; Chagai, Grossman

    2016-08-01

    The objective of this study was to report the clinical course of a cohort of patients with clinically amyopathic dermatomyositis (CADM) in correlation to the presence or absence of anti-melanoma differentiation-associated gene 5 (MDA-5) antibody. Five patients with CADM presented to our rheumatology unit between September 1, 2011 and March 31, 2014. We hereby present their clinical course, laboratory findings, imaging modalities, functional tests, and treatments regimens. Our cohort included five patients, with a mean age of 41.8 ± 17.7. Three patients, all anti-MDA-5 antibody positive, developed rapidly progressive interstitial lung disease (ILD) within 4.3 ± 4.5 months of presentation. Two of these patients succumbed to their disease within 30 months of diagnosis despite intensive immunosuppressive therapy. The third anti-MDA-5-positive patient with ILD is still stable, 20 months from disease onset, on massive combination therapy. One patient developed CADM associated with the anti-p155/140 antibody, a year after completing chemotherapy for non-seminomatous germ cell tumor. He presented with a benign clinical course with no evidence of ILD and no recurrence of malignancy after 20 months of follow-up. The fifth patient in our cohort, who is anti-MDA-5 negative and has no evidence of malignancy, also enjoys a benign clinical course. The presence of anti-MDA-5 antibodies in CADM patients is associated with rapidly progressive ILD and a poor prognosis. The serologic profile of patients with CADM should be routinely evaluated and integrated with clinical data in the management of these patients.

  6. Miller Fisher Syndrome: A Case Report Highlighting Heterogeneity of Clinical Features and Focused Differential Diagnosis.

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    Yepishin, Ilya V; Allison, Randall Z; Kaminskas, David A; Zagorski, Natalia M; Liow, Kore K

    2016-07-01

    Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS) that has a geographically variable incidence. It is largely a clinical diagnosis based on the cardinal clinical features of ataxia, areflexia, and opthalmoplegia, however, other neurological signs and symptoms may also be present. Serological confirmation with the anti-GQ1b antibody is available and allows for greater diagnostic certainty in the face of confounding symptoms. A self-limiting course is typical of MFS. The following case report is that of a patient who presented with generalized weakness, somatic pain, inability to walk, and diplopia following an upper respiratory illness. The patient exhibited the classic triad of ataxia, areflexia, and opthalmoplegia characteristic of MFS, but also had less typical signs and symptoms making for a more challenging diagnostic workup. Our suspected diagnosis of MFS was serologically confirmed with positive anti-GQ1b antibody titer and the patient was successfully treated with Intravenous immune globulin (IVIG).

  7. Mucocele and fibroma: treatment and clinical features for differential diagnosis.

    Science.gov (United States)

    Valério, Rodrigo Alexandre; de Queiroz, Alexandra Mussolino; Romualdo, Priscila Coutinho; Brentegani, Luiz Guilherme; de Paula-Silva, Francisco Wanderley Garcia

    2013-01-01

    Mucocele is a benign lesion occurring in the buccal mucosa as a result of the rupture of a salivary gland duct and consequent outpouring of mucin into soft tissue. It is usually caused by a local trauma, although in many cases the etiology is uncertain. Mucocele is more commonly found in children and young adults, and the most frequent site is the lower inner portion of the lips. Fibroma, on the other hand, is a benign tumor of fibrous connective tissue that can be considered a reactionary connective tissue hyperplasia in response to trauma and irritation. They usually present hard consistency, are nodular and asymptomatic, with a similar color to the mucosa, sessile base, smooth surface, located in the buccal mucosa along the line of occlusion, tongue and lip mucosa. Conventional treatment for both lesions is conservative surgical excision. Recurrence rate is low for fibroma and high for oral mucoceles. This report presents a series of cases of mucocele and fibroma treated by surgical excision or enucleation and the respective follow-up routine in the dental clinic and discusses the features to be considered in order to distinguish these lesions from each other.

  8. The clinical assessment of intraductal ultrasonography in the differential diagnosis of pancreatic carcinoma and chronic pancreatitis.

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective: To assess and compare the clinical value of intraductal ultrasonography (IDUS) in the differential diagnosis of pancreatic carcinoma and chronic pancreatitis with conventional imaging methods. Methods: IDUS was carried out in eighteen patients with pancreatic carcinoma and chronic pancreatitis

  9. The diagnosis, treatment and prevention of gout: The 2014 international clinical guidelines

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    N. T. Vatutin

    2015-01-01

    Full Text Available The given description of the 2014 new international guidelines prepared by the International Panel of Rheumatologists in the 3e Initiative reflects the diagnosis, treatment and prevention of gout, which are adapted for clinical practice.

  10. Clinical, radiological and molecular diagnosis correlation in serum samples from patients with osteoarticular tuberculosis

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    Guadalupe García-Elorriaga

    2014-07-01

    Conclusions: Nested PCR in serum samples is a rapid, highly sensitive and specific modality for OTB detection. PCR should be performed in addition to clinical evaluation, imaging studies, acid-fast bacilli staining, culture and histopathology diagnosis, if possible.

  11. Differences in clinical presentation of ankylosing spondylitis in men and women

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    Hossain Soleymani Salehabadi

    2016-10-01

    Full Text Available Background: Ankylosing spondylitis (AS is an inflammatory disease that mainly affects axial skeleton of the body and ankylosing spondylitis ligaments around the spine at the junction of the spine are inflamed, because the disease is progressive and can lead to significantly cause of disability and the studies could provide a mechanism for the early detection of the disease or help determine when to start treatment, the difference in clinical presentations of AS in men and women is indicative of potential effect of gender on severity of the disease. This study was conducted with the aim to investigate the effect of gender on severity of AS. Methods: In a cross-sectional study, one hundred and fifteen patients with ankylosing spondylitis who referred to Yazd Rheumatology Clinic between 2001 and 2013 were evaluated. Sampling was performed using non-random convenient method. The most important variables studied included demographic data, clinical presentation, radiographic stage of sacroiliac involvement, and laboratory data extracted from patients’ files and recorded in questionnaires. Results: Both groups according to age at diagnosis, presence of enteritis, peripheral joint involvement and laboratory data such as C-reactive protein (CRP, erythrocyte sedimentation rate (ESR and hemoglobin were matched. Inflammatory neck pain was more prevalent in men than in women (77.2% against 51.8%; P< 0.05. Sacroiliac radiographic study revealed stage 1 involvement in 11.3% of men and 37% of women (P= 0.009, and stage 4 in 27.2% of men and 3.7% of women (P< 0.001, with a significant difference. Conclusion: According to the results of the study, the time between age of onset and age at diagnosis, inflammatory pain in the neck and advanced stage in men than in women was higher. Although these findings suggest that gender may have an impact on the pattern and severity of AS but the time delay in diagnosis as a disease affecting the intensity and pattern should

  12. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

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    Jérôme Stirnemann

    2017-02-01

    Full Text Available Gaucher disease (GD, ORPHA355 is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions, is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase. Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat.

  13. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

    Science.gov (United States)

    Stirnemann, Jérôme; Belmatoug, Nadia; Camou, Fabrice; Serratrice, Christine; Froissart, Roseline; Caillaud, Catherine; Levade, Thierry; Astudillo, Leonardo; Serratrice, Jacques; Brassier, Anaïs; Rose, Christian; Billette de Villemeur, Thierry; Berger, Marc G

    2017-02-17

    Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD-but also carriers of GBA1 mutation-have been found to be predisposed to developing Parkinson's disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat).

  14. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

    Science.gov (United States)

    Stirnemann, Jérôme; Belmatoug, Nadia; Camou, Fabrice; Serratrice, Christine; Froissart, Roseline; Caillaud, Catherine; Levade, Thierry; Astudillo, Leonardo; Serratrice, Jacques; Brassier, Anaïs; Rose, Christian; Billette de Villemeur, Thierry; Berger, Marc G.

    2017-01-01

    Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat). PMID:28218669

  15. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

    Science.gov (United States)

    Walne, Amanda J.; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Plagnol, Vincent; Albayrak, Canan; Albayrak, Davut; Kilic, Sara Sebnem; Patıroglu, Turkan; Akar, Haluk; Godfrey, Keith; Carter, Tina; Marafie, Makia; Vora, Ajay; Sundin, Mikael; Vulliamy, Thomas; Tummala, Hemanth; Dokal, Inderjeet

    2016-01-01

    Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By whole exome and targeted sequencing, we identified biallelic variants in genes that are not associated with dyskeratosis congenita in 17 individuals from 12 families. Specifically, these were homozygous variants in USB1 (8 families), homozygous missense variants in GRHL2 (2 families) and identical compound heterozygous variants in LIG4 (2 families). All patients had multiple somatic features of dyskeratosis congenita but not the characteristic short telomeres. Our case series shows that biallelic variants in USB1, LIG4 and GRHL2, the genes mutated in poikiloderma with neutropenia, LIG4/Dubowitz syndrome and the recently recognized ectodermal dysplasia/short stature syndrome, respectively, cause features that overlap with dyskeratosis congenita. Strikingly, these genes also overlap in their biological function with the known dyskeratosis congenita genes that are implicated in telomere maintenance and DNA repair pathways. Collectively, these observations demonstrate the marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. This has important implications for establishing a genetic diagnosis when a new patient presents in the clinic. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. PMID:27612988

  16. Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic.

    Science.gov (United States)

    Zadeh, Neda; Getzug, Terri; Grody, Wayne W

    2011-03-01

    Familial Mediterranean fever is an autosomal recessive genetic disorder characterized by recurrent febrile polyserositis, especially prevalent in individuals of Mediterranean descent. Familial Mediterranean fever can have nonspecific manifestations that mimic many common acquired disorders such as infections, acute appendicitis, cholecystitis, and arthritis, which can delay diagnosis for many years and subject patients to extensive evaluations and even unnecessary surgery. Untreated familial Mediterranean fever can result in serious complications such as end-stage renal disease and malabsorption secondary to amyloid deposition in the kidneys and digestive tract, male and female infertility, and growth retardation in children. These significant sequelae, along with the episodic acute attacks, are readily preventable by treatment with oral colchicine and underscore the necessity of early detection and treatment from a medical, psychosocial, and economic standpoint. We describe our comprehensive approach to the accurate diagnosis and effective management of this disorder by means of a dedicated familial Mediterranean fever clinic that incorporates medical genetics on equal footing with general medicine. In addition to providing the clinician with the presenting features of familial Mediterranean fever, methods of diagnosis including molecular testing, and current management based on our extensive experience with hundreds of affected individuals, we also advance this approach as a model for the incorporation of medical genetics practice into the more traditional domains of general medicine.

  17. Clinical presentation and treatment outcome of retinoblastoma in children of South Western China.

    Science.gov (United States)

    Gao, Jingge; Zeng, Jihong; Guo, Bo; He, Weimin; Chen, Jun; Lu, Fang; Chen, Danian

    2016-10-01

    To study the clinical presentation and treatment outcome among children in South Western China with retinoblastoma (RB) and to determine factors predictive of poor outcome.A retrospective review of children diagnosed with RB from 2006 to 2015 at West China Hospital was undertaken. Demographic and clinical characteristics and treatment outcomes were studied.A total of 253 patients (unilateral 80.2%, bilateral 19.8%) were studied. Twenty six patients (10.3%) were from minority ethnic groups of China. The median onset age was 21 months. Leukocoria was the most common presenting sign (71%). Tumors were intraocular in 91.3% cases, extraocular in 8.7% cases. Extraocular RB patients had a longer median lag period than intraocular patients (9 months vs 2 months, P presentation is related to extraocular RB which is a risk factor for poor outcome. Chemotherapy increased the eye salvage but had no effects to overall survival. Education for parents and general physicians for the early signs of RB (such as leukocoria), therapeutic strategy and treatment outcomes of RB may promote early diagnosis, improve the compliance, and outcome.

  18. Assessing Murphy Sequence as a Clinical Element in Acute Appendicitis Diagnosis

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    Andy Rocha Quintana

    2011-04-01

    Full Text Available Background: at present, the presence or lack of agreement between clinical diagnosis and evidence when exploring the abdominal cavity and performing excision of the pathological piece in cases of acute appendicitis, has become an increasingly contested issue. Objective: to characterize the presentation of Murphy Sequence in patients who underwent acute appendicitis surgery. Methods: descriptive study on a case series of patients who underwent acute appendicitis surgery in the General University Hospital of Cienfuegos between March and September 2006. Variables analyzed: age, sex, skin color, evolution duration and order of appearance of symptoms, presentation of Murphy Sequence, complementary tests and pathological diagnosis. Results: the average age for cases where Murphy Sequence was not presented was 34 years old, predominantly brown skinned males. The sequence was not completed in 96, 8% of cases, mainly those found in catarrhal stage. Laparoscopy was not performed in 69.7% of patients and, within this group, 97.7% of patients did not complete the sequence. In 51.9% of the cases, the first symptom was epigastric pain that then moved to the right iliac fossa. A broad spectrum of values of white blood cells was found in cases of catarrhal appendicitis. Conclusions: in 96.8% of cases Murphy Sequence was absent. Even in cases of long evolutions, these symptoms were not related to the disease stages.

  19. How well do second-year students learn physical diagnosis? Observational study of an objective structured clinical examination (OSCE

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    Simon Steven R

    2002-01-01

    Full Text Available Abstract Background Little is known about using the Objective Structured Clinical Examination (OSCE in physical diagnosis courses. The purpose of this study was to describe student performance on an OSCE in a physical diagnosis course. Methods Cross-sectional study at Harvard Medical School, 1997–1999, for 489 second-year students. Results Average total OSCE score was 57% (range 39–75%. Among clinical skills, students scored highest on patient interaction (72%, followed by examination technique (65%, abnormality identification (62%, history-taking (60%, patient presentation (60%, physical examination knowledge (47%, and differential diagnosis (40% (p Conclusions Students scored higher on interpersonal and technical skills than on interpretive or integrative skills. Station scores identified specific content that needs improved teaching.

  20. Non specific aorto-arteritis. Clinical picture, diagnosis and therapy.

    Science.gov (United States)

    Miani, S; De Monti, M; Keller, G; Bordoni, M G; Bianchi, E; Giordanengo, F

    1999-06-01

    This study is aimed at analyzing clinical features, angiographic findings and evolution of Takayasu's arteritis and the criteria adopted to establish the indication for non-surgical versus operative treatment. Eighteen patients affected by non specific aortarteritis were observed and treated at our Department between 1973 and 1996. All patients met the American College of Rheumatology 1990 criteria of classification of Takayasu's arteritis. Sixteen patients were young females. Two patients were males. Nine patients underwent surgical procedures. One young female underwent a PTA. All eight asymptomatic patients were only medically treated. One patient died some days after an aorto-bicarotid bypass graft due to acute myocardial infarction. Two other patients died two and four years after intervention for renal and cardiac failure respectively. One patient after an aorto bicarotid bypass underwent a left hemiplegia due to thrombosis of the right graft branch. All the other 14 patients either surgically or medically treated are well and are under strict surveillance through rigorous follow-up. The 10 patients who underwent surgical or interventional radiological treatment were certainly the most seriously affected patients and were symptomatic (presented neurological disturbances or a severe hypertensive state). This fact explains, to some extent, the mortality and morbidity rate observed in this group. The seven medically treated patients were completely asymptomatic in spite of a major involvement of various vascular districts.

  1. Clinical presentation and audiologic findings in pediatric auditory neuropathy

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    Navneet Gupta

    2014-01-01

    Full Text Available Aim: of the study was to rule out audiologic findings, related etiologies and its effect in pediatric patients having hearing deficits that are most likely due to a neuropathy of the eighth nerve. Study Design: Retrospective neo-natal hearing screening programme based. Subject and Methods: Subjects include 30 children aged from 0 yrs to 12 yrs, were tested with pure tone audiometry, behavioral observation audiometry, free-filed audiometry, speech audiometry, auditory brainstem response, and click evoked otoacoustic emissions. Results: Pure tone and free-field testing revealed 40 ears (66.67%, n = 60 with sloping type, sensorineural hearing loss, 20 ears (33.3%, n = 60 had flat configuration. Out of this 18 (6%, n = 30 subject showed bilateral similar configuration (either bilateral sloping type/ flat type of audiogram. Rest 12 (40%, n = 30 subject showed bilateral different pattern. 10 (33.3%, n = 30 children demonstrated fair to poor word discrimination scores and the other 2 (6.67%, n = 30 had fair to good word discrimination. For other rest of 18 (60%, n = 30 children speech test couldn′t be performed because of age limit and poor speech and language development. Out of 30 subjects 28 (93.3%, n = 30 showed normal distortion product Otoacoustic emissions and 2(6.67%, n = 30 subjects showed absent emissions. Conclusions: All thirty children demonstrated absent or marked abnormalities of brainstem auditory evoked potentials which suggest cochlear outer hair cell function is normal; mostly lesion is located at the eighth nerve or beyond. Generally auditory neuropathy is associated with different etiologies and it is difficult to diagnose auditory neuropathy with single audiological test; sufficient test of battery is required for complete assessment and diagnosis of auditory neuropathy

  2. PNH revisited: Clinical profile, laboratory diagnosis and follow-up

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    Gupta P

    2009-01-01

    Full Text Available Background: Paroxysmal nocturnal hemoglobinuria (PNH is characterized by intravascular hemolysis, marrow failure, nocturnal hemoglobinuria and thrombophila. This acquired disease caused by a deficiency of glycosylphosphatidylinositol (GPI anchored proteins on the hematopoietic cells is uncommon in the Indian population. Materials and Methods: Data of patients diagnosed with PNH in the past 1 year were collected. Clinical data (age, gender, various presenting symptoms, treatment information and follow-up data were collected from medical records. Results of relevant diagnostic tests were documented i.e., urine analysis, Ham′s test, sucrose lysis test and sephacryl gel card test (GCT for CD55 and CD59. Results: A total of 5 patients were diagnosed with PNH in the past 1 year. Presenting symptoms were hemolytic anemia (n=4 and bone marrow failure (n=1. A GCT detected CD59 deficiency in all erythrocytes in 4 patients and CD55 deficiency in 2 patients. A weak positive PNH test for CD59 was seen in 1 patient and a weak positive PNH test for CD55 was seen in 3 patients. All patients were negative by sucrose lysis test. Ham′s test was positive in two cases. Patients were treated with prednisolone and/or androgen and 1 patient with aplastic anemia was also given antithymocyte globulin. A total of 4 patients responded with a partial recovery of hematopoiesis and 1 patient showed no recovery. None of the patients received a bone marrow transplant. Conclusion: The study highlights the diagnostic methods and treatment protocols undertaken to evaluate the PNH clone in a developing country where advanced methods like flowcytometry immunophenotyping (FCMI and bone marrow transplants are not routinely available.

  3. Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region

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    Nurgul Ceran

    2011-02-01

    Full Text Available Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, sagittal sinus thrombosis in one case, spinal arachnoiditis in one case, intracranial vasculitis in one case, in addition to meningitis in all cases. Eleven patients were male and seven were female. The most prevalent symptoms were headache (83% and fever (44%. All patients were treated with rifampicin, doxycycline plus trimethoprim-sulfamethoxazole or ceftriaxone. Duration of treatment (varied 3-12 months was determined on basis of the CSF response. In four patients presented with left mild sequelae including aphasia, hearing loss, hemiparesis. In conclusion, although mortality is rare in neurobrucellosis, its sequelae are significant. In neurobrucellosis various clinical and neuroradiologic signs and symptoms can be confused with other neurologic diseases. In inhabitants or visitors of endemic areas, neurobrucellosis should be kept in mind in cases that have unusual neurological manifestations.

  4. Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region.

    Science.gov (United States)

    Ceran, Nurgul; Turkoglu, Recai; Erdem, Ilknur; Inan, Asuman; Engin, Derya; Tireli, Hulya; Goktas, Pasa

    2011-01-01

    Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, sagittal sinus thrombosis in one case, spinal arachnoiditis in one case, intracranial vasculitis in one case, in addition to meningitis in all cases. Eleven patients were male and seven were female. The most prevalent symptoms were headache (83%) and fever (44%). All patients were treated with rifampicin, doxycycline plus trimethoprim-sulfamethoxazole or ceftriaxone. Duration of treatment (varied 3-12 months) was determined on basis of the CSF response. In four patients presented with left mild sequelae including aphasia, hearing loss, hemiparesis. In conclusion, although mortality is rare in neurobrucellosis, its sequelae are significant. In neurobrucellosis various clinical and neuroradiologic signs and symptoms can be confused with other neurologic diseases. In inhabitants or visitors of endemic areas, neurobrucellosis should be kept in mind in cases that have unusual neurological manifestations.

  5. Comparison of clinical diagnosis and microbiological test results in vaginal infections.

    Science.gov (United States)

    Karaca, M; Bayram, A; Kocoglu, M E; Gocmen, A; Eksi, F

    2005-01-01

    Lower genital tract infections continue to be a problem due to the fact that the clinical diagnosis is usually inadequate, and subsequent care is suboptimal. This study aimed at evaluating the accuracy of clinical diagnosis by comparing it with microbiologic test results, and to determine the causative agents of vaginal infections. Sixty-seven nonpregnant women (18-45 years of age) with the clinical diagnosis of lower genital tract infection were enrolled in the study. Patients were not included if they had a history of vaginal infection during the previous three-month period or intrauterine device. The clinical diagnosis was based on the combinations of symptoms, direct observation of wet mount, homogeneous discharge, vaginal pH > 4.5, and detection of the amine odor after exposure of vaginal secretions to 10% KOH. Vaginal samples were taken with two cotton swabs, one was used for pH determination, and the second was utilized for microbiological tests. Gram staining and cultures with Sabouraud agar and chocolate agar were performed for microbiological diagnosis, and the results were compared. The clinical diagnoses included 26 (38.8%) candidiasis, 18 (26.8%) bacterial vaginosis, three (4.5%) trichomoniasis, and 20 (29.9%) mixed vaginal infections. Of the 26 patients with clinical diagnoses of candidiasis, 12 (46.1%) revealed Candiada albicans, nine (34.6) patients revealed microorganisms other than candida species, and five (19.2%) patients had no growth. Five (27.8%) bacterial vaginosis patients revealed Gardnarella vaginalis and 12 patients (66.6%) did not grow any microorganism. The overall rate of accurate clinical diagnoses confirmed by microbiological test results was 43.2%. Seventeen (43.6) of the 39 microbiological test results correlated with clinical diagnosis, and no growth was observed in 28 (41.8%) cultures. We conclude that the clinical diagnosis of vaginal infection is inadequate and should be confirmed with microbiological testing if the resources

  6. Aerosolized pentamidine: Effect on diagnosis and presentation of Pneumocystis carinii pneumonia

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    Jules-Elysee, K.M.; Stover, D.E.; Zaman, M.B.; Bernard, E.M.; White, D.A. (Memorial Sloan-Kettering Cancer Center, New York, NY (USA))

    1990-05-15

    The objective of this study was to determine the effect of previous aerosolized pentamidine therapy on diagnosis and presentation of Pneumocystis carinii pneumonia. This was a retrospective study of fifty-two consecutive patients with P. carinii pneumonia and underlying infection with the human immunodeficiency virus (HIV) who had bronchoscopy. Twenty-one patients who were on aerosolized pentamidine therapy served as the study group. Thirty-one patients who had not received the drug served as the control group. The yield of bronchoalveolar lavage for P. carinii pneumonia was 62% for the study group and 100% for the control group (P less than 0.05). This lower yield was significant for the subset of patients having their first episode of P. carinii pneumonia. The yield of transbronchial biopsy was similar for both groups of patients (81% compared with 84%). The yield of bronchoscopy was not influenced by use of zidovudine. Review of lavage specimen slides suggested that there may be fewer organisms present in patients receiving aerosolized pentamidine. An atypical roentgenographic presentation of upper lobe predominant infiltrates was seen in 38% of the study patients and 7% of the control patients. In addition, pneumothoraces and cystic changes were also frequently seen in the study patients. Gallium scans, when done, were also atypical in the study group. Markers of the severity of disease, however, were similar in both groups. The yield of bronchoalveolar lavage for P. carinii pneumonia in HIV-infected patients is lower in patients receiving aerosolized pentamidine. Unusual roentgenographic presentations and atypical gallium scans are also found in this setting.

  7. Clinical Advances in Molecular Biomarkers for Cancer Diagnosis and Therapy

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    Sarkar, Fazlul H.; Philip, Philip A.; Seema Sethi; Shadan Ali

    2013-01-01

    Cancer diagnosis is currently undergoing a paradigm shift with the incorporation of molecular biomarkers as part of routine diagnostic panel. The molecular alteration ranges from those involving the DNA, RNA, microRNAs (miRNAs) and proteins. The miRNAs are recently discovered small non-coding endogenous single-stranded RNAs that critically regulates the development, invasion and metastasis of cancers. They are altered in cancers and have the potential to serve as diagnostic markers for cancer...

  8. Analysis of clinical features of ocular presentation in cranial venous sinus thrombosis

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    Wang D

    2011-07-01

    Full Text Available Abstract Background To recognize ocular presentations in cranial venous sinus thrombosis (CVST which were easy to be misdiagnosis. Design Retrospective study. Methods Review clinical informations including general informations, general performances, and ocular presentations of 118 inpatients with CVST in the general hospital of chinese people's liberation army during 2005-2009. Main Outcome Measures The ocular symptoms as the initial onset presentations or simultaneous phenomenon among different onset type patients were analyzed. Results Of all the CVST patients, 21.2% (25/118 presented with ocular symptom as the initial presentation, 30.5% (36/118 presented with ocular symptom as well as the other symptoms, and 48.3% (57/118 presented with non-ocular symptoms as the initial onset. The CVST patients were divided into 3 groups according to the onset type. There was no marked statistical significance among groups. The most common major complaints were blurring and degeneration of acute vision, accounting for 85.9% (61/71 of all abnormal ocular chief complaints. The most common objective sign in eyes was papilloedema, accounting for 48.3% (57/118 in this group of CVST patients. About 22.4% (13/58 showed acute vision deterioration at 1-year follow-up, due to optic atrophy. Conclusions As ophthalmologists, we should master the onset characteristics and clinical manifestations of CVST. Early diagnosis and treatment is very important for the prevention of vision deterioration, especially for patients with ocular syndrome as the initial onset syndrome. For isolated agnogenic intracranial hypertension, we should consider the possibility of CVST.

  9. [Diagnosis and Treatment of Peptic Ulcer Disease: Present and Future Perspective].

    Science.gov (United States)

    Kim, Byung Wook

    2016-06-25

    Peptic ulcer disease is one of the most commonly encountered diseases in gastroenterology clinics. After the discovery of Helicobacter pylori by Warren and Marshall, it has been identified as the most important cause of peptic ulcer. Eradication of H. pylori markedly reduces the post-treatment recurrence rate of peptic ulcer. However, as human populations age, the incidence of cardiovascular and musculoskeletal diseases increases and consequent use of aspirin and non-steroidal anti-in-flammatory drugs increases. Thus causes and presenting patterns of peptic ulcer have changed. In this review, I describe new diagnostic and therapeutic strategies for peptic ulcer disease and explore future perspectives.

  10. Brucellosis in San Diego: epidemiology and species-related differences in acute clinical presentations.

    Science.gov (United States)

    Troy, Stephanie B; Rickman, Leland S; Davis, Charles E

    2005-05-01

    Although aggressive public health measures have greatly reduced the number of brucellosis cases in the United States, there is a resurgence of interest in this worldwide zoonosis because of its potential as a bioweapon and its 8-fold higher incidence in California, Texas, and the other borderlands between the United States and Mexico compared with the national rate. Accordingly, we reviewed the clinical records of 28 patients diagnosed at a university hospital in San Diego, CA, between 1979 and 2002 to look for new epidemiologic trends and to test the hypothesis that there are species-specific differences in clinical presentations. In contrast to the latest California-wide study completed in 1992, Brucella abortus infections were more common (73%) than Brucella melitensis after 1992, and women were more commonly infected (77% compared with 39%) than men. Major risk factors remained Hispanic ethnicity, travel to Mexico, and ingestion of nonpasteurized dairy products. Analysis of diagnostic procedures suggested that the traditional practice of prolonged incubation of blood cultures increased their sensitivity for Brucella, even in automated radiometric systems. Direct comparison of the clinical manifestations of infections with B. abortus and B. melitensis strongly supported differences in acute presentations. B. melitensis presented more acutely as fevers of unknown origin with statistically significant higher rates of abdominal tenderness, hepatomegaly, splenomegaly, thrombocytopenia, pancytopenia, and hepatic dysfunction. These results suggest that the epidemiology of brucellosis in California may be evolving, and they show, to our knowledge for the first time in a single series, that species-specific differences in presentations may account for some of the protean manifestations of brucellosis. Familiarity with manifestations of brucellosis and the optimal laboratory techniques for its diagnosis could help physicians protect the public against this reemerging

  11. Subclinical hepatic encephalopathy: diagnosis, clinical implications, and intervention

    NARCIS (Netherlands)

    J.C. Guero Guillen

    1997-01-01

    textabstractHepatic encephalopathy (HE) is traditionally graded into four clinical stages of severity, ranging from lethargy, sleep and memory disturbances (grade 1) to coma (grade 4). In addition to the clinical grading of HE, a subclinical stage has been described. In subclinical hepatic encephalo

  12. Cutaneous manifestations of antiphospholipid syndrome: a review of the clinical features, diagnosis and management.

    Science.gov (United States)

    Pinto-Almeida, Teresa; Caetano, Mónica; Sanches, Madalena; Selores, Manuela

    2013-01-01

    Antiphospholipid syndrome is a relatively recent systemic autoimmune disorder defined by thrombotic events and/or obstetric complications in the presence of persistent elevated antiphospholipid antibodies. It\\'s characterized by a wide spectrum of clinical presentations and virtually any organ system or tissue may be affected by the consequences of vascular occlusion. Diagnosis is sometimes difficult and although classification criteria have been published and revised there remain ongoing issues regarding nomenclature, expanding clinical features, laboratory tests and management and much still has to be done. Cutaneous manifestations are common and frequently the first sign of the disease. Although extremely diverse it\\'s important to know which dermatological findings should prompt consideration of antiphospholipid syndrome and the appropriate management for those patients. Much has been debated about when to consider antiphospholipid syndrome and consensus still does not exist, however in spite of being a diagnostic challenge clinicians should know when to look for antiphospholipid antibodies since an early diagnosis is important to prevent further and serious complications. In this article we focus on the cutaneous features that should raise suspicion on the presence of antiphospholipid syndrome and on the complex management of such patients. Many other dermatological signs related to this syndrome have been described in the literature but only occasionally and without consistency or statistic impact and therefore will not be considered here.

  13. Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.

    Science.gov (United States)

    Németh, Dániel; Árvai, Kristóf; Horváth, Péter; Kósa, János Pál; Tobiás, Bálint; Balla, Bernadett; Folhoffer, Anikó; Krolopp, Anna; Lakatos, Péter András; Szalay, Ferenc

    2016-01-01

    Objective. Wilson's disease is a disorder of copper metabolism which is fatal without treatment. The great number of disease-causing ATP7B gene mutations and the variable clinical presentation of WD may cause a real diagnostic challenge. The emergence of next-generation sequencing provides a time-saving, cost-effective method for full sequencing of the whole ATP7B gene compared to the traditional Sanger sequencing. This is the first report on the clinical use of NGS to examine ATP7B gene. Materials and Methods. We used Ion Torrent Personal Genome Machine in four heterozygous patients for the identification of the other mutations and also in two patients with no known mutation. One patient with acute on chronic liver failure was a candidate for acute liver transplantation. The results were validated by Sanger sequencing. Results. In each case, the diagnosis of Wilson's disease was confirmed by identifying the mutations in both alleles within 48 hours. One novel mutation (p.Ala1270Ile) was found beyond the eight other known ones. The rapid detection of the mutations made possible the prompt diagnosis of WD in a patient with acute liver failure. Conclusions. According to our results we found next-generation sequencing a very useful, reliable, time-saving, and cost-effective method for diagnosing Wilson's disease in selected cases.

  14. Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease

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    Dániel Németh

    2016-01-01

    Full Text Available Objective. Wilson’s disease is a disorder of copper metabolism which is fatal without treatment. The great number of disease-causing ATP7B gene mutations and the variable clinical presentation of WD may cause a real diagnostic challenge. The emergence of next-generation sequencing provides a time-saving, cost-effective method for full sequencing of the whole ATP7B gene compared to the traditional Sanger sequencing. This is the first report on the clinical use of NGS to examine ATP7B gene. Materials and Methods. We used Ion Torrent Personal Genome Machine in four heterozygous patients for the identification of the other mutations and also in two patients with no known mutation. One patient with acute on chronic liver failure was a candidate for acute liver transplantation. The results were validated by Sanger sequencing. Results. In each case, the diagnosis of Wilson’s disease was confirmed by identifying the mutations in both alleles within 48 hours. One novel mutation (p.Ala1270Ile was found beyond the eight other known ones. The rapid detection of the mutations made possible the prompt diagnosis of WD in a patient with acute liver failure. Conclusions. According to our results we found next-generation sequencing a very useful, reliable, time-saving, and cost-effective method for diagnosing Wilson’s disease in selected cases.

  15. Clinical Characteristics of Paroxysmal Kinesigenic Choreoathetosis:Diagnosis,Treatment and Prognosis

    Institute of Scientific and Technical Information of China (English)

    Huicong KANG; Qi HU; Xiaoyan LIU; Feng XU; Lin CHEN; Suiqiang ZHU

    2009-01-01

    The clinical characters,diagnosis and differential diagnosis of paroxysmal kinesigenic choreoathetosis (PKC),and efficacy of the anti-epileptic drugs (AEDs) were investigated.Thirty-one patients with PKC were collected,and the clinical characters and change of EEG were analyzed.The average age of the first attack was 16.8 years old and the pinnacle was 10 to 20 years old.There were definite causes for every attack and the sudden movement was the most common one (92%).Time for the whole attack was always less than 1 rain.The attack presented with muscle tension disturbance (83.9%),movement like dancing (16.1%),abnormal movement of mouth and face and other symp-toms (16.2%).The attack tended to be very frequent and 71% patients were beyond once per day.The EEG examination and image scan of primary PKC were normal in most patients.Low dosage of AEDs could control the attack of 50%-77.3% patients.It was concluded that PKC was a common disease of movement disorder.The therapy by AEDs was very effective.PKC should be differentiated from epilepsy and the relationship between PKC and epilepsy needs further research.

  16. Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up

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    Erica Dorigatti de-Avila

    2015-02-01

    Full Text Available Nevoid basal cell carcinoma (NBCCS or Gorlin-Goltz syndrome (GS is a multidisciplinary problem, the early diagnosis of which allows secondary prophylaxis that follows an appropriate regimen to delay progression of the syndrome. The aim of this study was to present a case of delayed diagnosis of GS in a young patient who received multidisciplinary treatment 5 years after onset. The patient presented for evaluation with painless swelling of the left maxilla. Histological examination confirmed the diagnosis of a keratocyst odontogenic tumor (KOT that was enucleated. On presentation, the patient's symptoms and clinical signs were not related to complications of GS, and the possibility of GS was initially rejected, as he did not have a family history of the syndrome. Four years after the first surgery to remove the lesion, the patient came to our clinic with a brown, pigmented lesion. Computed tomography revealed ectopic lamellar calcification of the falx cerebri, which was the conclusive factor for the diagnosis of GS. It is important that clinicians recognize the clinical signs of GS, which mainly manifests itself as multiple basal cell carcinomas in the skin. [Arch Clin Exp Surg 2015; 4(1.000: 49-53

  17. Clinical presentation and aetiologies of acute or complicated headache among HIV-seropositive patients in a Ugandan clinic

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    Katwere Michael

    2009-09-01

    Full Text Available Abstract Background We set out to define the relative prevalence and common presentations of the various aetiologies of headache within an ambulant HIV-seropositive adult population in Kampala, Uganda. Methods We conducted a prospective study of adult HIV-1-seropositive ambulatory patients consecutively presenting with new onset headaches. Patients were classified as focal-febrile, focal-afebrile, non-focal-febrile or non-focal-afebrile, depending on presence or absence of fever and localizing neurological signs. Further management followed along a pre-defined diagnostic algorithm to an endpoint of a diagnosis. We assessed outcomes during four months of follow up. Results One hundred and eighty patients were enrolled (72% women. Most subjects presented at WHO clinical stages III and IV of HIV disease, with a median Karnofsky performance rating of 70% (IQR 60-80. The most common diagnoses were cryptococcal meningitis (28%, n = 50 and bacterial sinusitis (31%, n = 56. Less frequent diagnoses included cerebral toxoplasmosis (4%, n = 7, and tuberculous meningitis (4%, n = 7. Thirty-two (18% had other diagnoses (malaria, bacteraemia, etc.. No aetiology could be elucidated in 28 persons (15%. Overall mortality was 13.3% (24 of 180 after four months of follow up. Those without an established headache aetiology had good clinical outcomes, with only one death (4% mortality, and 86% were ambulatory at four months. Conclusion In an African HIV-infected ambulatory population presenting with new onset headache, aetiology was found in at least 70%. Cryptococcal meningitis and sinusitis accounted for more than half of the cases.

  18. Clinical presentation of CAD and myocardial ischemia in women.

    Science.gov (United States)

    Wenger, Nanette K

    2016-10-01

    Angina is the most frequent initial and subsequent manifestation of ischemic heart disease in women. Women with stable ischemic heart disease have a more diverse symptom presentation than men, with prominent anginal equivalents; symptoms are more often precipitated by emotional or mental stress. Women, especially at younger age, whose acute myocardial infarction presentation is without chest pain have higher mortality rates than men without chest pain.

  19. Clinical signs of pneumonia in children: association with and prediction of diagnosis by fuzzy sets theory

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    Pereira J.C.R.

    2004-01-01

    Full Text Available The present study compares the performance of stochastic and fuzzy models for the analysis of the relationship between clinical signs and diagnosis. Data obtained for 153 children concerning diagnosis (pneumonia, other non-pneumonia diseases, absence of disease and seven clinical signs were divided into two samples, one for analysis and other for validation. The former was used to derive relations by multi-discriminant analysis (MDA and by fuzzy max-min compositions (fuzzy, and the latter was used to assess the predictions drawn from each type of relation. MDA and fuzzy were closely similar in terms of prediction, with correct allocation of 75.7 to 78.3% of patients in the validation sample, and displaying only a single instance of disagreement: a patient with low level of toxemia was mistaken as not diseased by MDA and correctly taken as somehow ill by fuzzy. Concerning relations, each method provided different information, each revealing different aspects of the relations between clinical signs and diagnoses. Both methods agreed on pointing X-ray, dyspnea, and auscultation as better related with pneumonia, but only fuzzy was able to detect relations of heart rate, body temperature, toxemia and respiratory rate with pneumonia. Moreover, only fuzzy was able to detect a relationship between heart rate and absence of disease, which allowed the detection of six malnourished children whose diagnoses as healthy are, indeed, disputable. The conclusion is that even though fuzzy sets theory might not improve prediction, it certainly does enhance clinical knowledge since it detects relationships not visible to stochastic models.

  20. Clinical presentation and diagnostic approach in cases of genitourinary tuberculosis

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    Rakesh Kapoor

    2008-01-01

    Full Text Available Objective: We herein describe the various modes of presentation in genitourinary tuberculosis (GUTB and a simple diagnostic approach to it. Materials and Methods: We made a literature search through Medline database and various other peer-reviewed online journals to study the various modes of presentation in GUTB. We reviewed over 100 articles published in the last 10 years (1998 -- 2007, which were tracked through the key words like GUTB and extrapulmonary tuberculosis. Results: GUTB has varied presentation and the most common way of presentation is in the form of irritative voiding symptoms, which are found in more than 50% of the patients. The usual frequency of organ involvement is: kidney, bladder, fallopian tube, and scrotum. The usual tests used to diagnose GUTB are the demonstration of mycobacterium in urine or body fluid and radiographic examination. Intravenous urography (IVU has been considered to be one of the most useful tests for the anatomical as well as the functional details of kidneys and ureters. In cases of renal failure, MRI can be used. Newer examinations such as radiometric liquid culture systems (i.e., BACTEC ® , Becton Dickinson,USA and polymerase chain reaction (PCR give rapid results and are highly sensitive in the identification of mycobacterium. Conclusion: GUTB can involve any part of the genitourinary system and presentation may vary from vague urinary symptoms to chronic kidney disease. Newer tests like radiometric liquid culture systems and polymerase chain reaction give rapid results and carry high diagnostic value.

  1. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

    Science.gov (United States)

    Solanki, Guirish A; Martin, Kenneth W; Theroux, Mary C; Lampe, Christina; White, Klane K; Shediac, Renée; Lampe, Christian G; Beck, Michael; Mackenzie, William G; Hendriksz, Christian J; Harmatz, Paul R

    2013-03-01

    Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed.

  2. DIFFERENTIATION SYNDROME IN PROMYELOCYTIC LEUKEMIA : CLINICAL PRESENTATION, PATHOGENESIS AND TREATMENT

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    Eduardo Magalhães Rego

    2011-10-01

    Full Text Available Differentiation syndrome (DS represents a life-threatening complication in patients with acute promyelocytic leukemia (APL undergoing induction therapy with all-trans retinoic acid (ATRA or arsenic trioxide (ATO. It affects about 20-25% of all patients and there are no definitive diagnostic criteria. Clinically, DS is characterized by weight gain, fever not attributable to infection, respiratory distress, cardiac involvement, hypotension, and/or acute renal failure. At the histological point of view, there is an extensive interstitial and intra-alveolar pulmonary infiltration by maturing myeloid cells, endothelial cell damage, intra-alveolar edema, inter-alveolar hemorrhage, and fibrinous exsudates. DS pathogenesis is not completely understood, but it is believed that an excessive inflammatory response is the main phenomenon involved, which results in increased production of chemokines and expression of adhesion molecules on APL cells. Due to the high morbidity and mortality associated with DS, its recognition and the prompt initiation of the treatment is of utmost importance. Dexamethasone is considered the mainstay of treatment of DS, and the recommended dose is 10 mg twice daily by intravenous route until resolution of DS. In severe cases (respiratory or acute renal failure it is recommended the discontinuation of ATRA or ATO until recovery.

  3. Dental extraction for patients presenting at oral surgery student clinic.

    Science.gov (United States)

    Baqain, Zaid H; Khraisat, Ameen; Sawair, Faleh; Ghanam, Sana; Shaini, Firas J; Rajab, Lamis D

    2007-03-01

    The aim of this study was to examine the reasons for dental extraction and to determine the pattern of tooth loss in patients seeking care at the oral surgery teaching clinics in the Faculty of Dentistry of the University of Jordan, Amman, Jordan, over a 3-year period. Data pertaining to the dental extractions of 2435 patients were analyzed. The results showed that 63.8% of the teeth included in this study were extracted because of dental caries, 22.9% because of periodontal disease, and 11.0% for prosthetic reasons. Pericoronitis, orthodontic treatment, trauma, and eruption problems accounted for 2.4% of the reported extractions. The upper premolars were the teeth most commonly extracted, and the lower first and second molars were the teeth most commonly extracted because of dental caries. The logistic regression test revealed that extraction because of dental caries occurred mostly in the group aged 21 to 30 years (P Periodontal disease was not likely the cause of extraction in patients younger than 40 years. Mandibular incisors were the teeth least likely extracted because of dental caries (P periodontal disease (P orthodontic reasons mostly involved the premolars (P periodontal disease (P < .05 and P < .001, respectively) and were more likely to lose teeth for prosthetic reasons and trauma. The information gained from this study is useful to shift oral health planning toward emphasizing the importance of maintaining natural dentition and preventing dental disease.

  4. Presentation of chronic daily headache : A clinical study

    NARCIS (Netherlands)

    Spierings, E L H; Schroevers, M.; Honkoop, P.C.; Sorbi, M.

    1998-01-01

    We studied the presentation of chronic daily headache in 258 patients from a private headache practice, 50 men and 208 women. Chronic daily headache was defined as headaches, occurring at least 5 days per week for at least 1 year. Seventy-seven percent of the patients experienced the onset of headac

  5. Intracranial actinomycosis: Varied clinical and radiologic presentations in two cases

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    Sandeep Mohindra

    2012-01-01

    Full Text Available Two patients with primary actinomycotic brain infection are presented here. The first case had 2 predisposing factors, cardiac septal defect and chronic mastoiditis, whereas the second patient was a chronic smoker, belonging to a desert region. Both the patients were successfully managed with surgical debridement and prolonged administration of antibiotics.

  6. [Hepato-splenic hemangiosarcoma: presentation of a clinical case].

    Science.gov (United States)

    Antoniello, L; Cohen, H; Rondán, M; Rodríguez, J; Fosman, E

    1989-09-01

    A 65-year-old farmer who had used arsenic as a plaguicide for many years developed a hepatosplenic hemangiosarcoma with metastasis in the colonic serosa, mesentery and omental. The tumor was complicated with intraabdominal hemorrhage originated by spontaneous intraperitoneal rupture. The echographic and post-mortem findings are presented. This is the first case of hepatic hemangiosarcoma reported in Uruguay.

  7. Genital ulcers: etiology, clinical diagnosis, and associated human immunodeficiency virus infection in Kingston, Jamaica.

    Science.gov (United States)

    Behets, F M; Brathwaite, A R; Hylton-Kong, T; Chen, C Y; Hoffman, I; Weiss, J B; Morse, S A; Dallabetta, G; Cohen, M S; Figueroa, J P

    1999-05-01

    Individuals presenting consecutively with genital ulcers in Kingston, Jamaica, underwent serological testing for human immunodeficiency virus (HIV) infection, chlamydial infection, and syphilis. Ulcer material was analyzed by multiplex polymerase chain reaction (M-PCR) analysis. DNA from herpes simplex virus (HSV), Haemophilus ducreyi, and Treponema pallidum was detected in 158 (52.0%), 72 (23.7%), and 31 (10.2%) of 304 ulcer specimens. Of the 304 subjects, 67 (22%) were HIV-seropositive and 64 (21%) were T. pallidum-seroreactive. Granuloma inguinale was clinically diagnosed in nine (13.4%) of 67 ulcers negative by M-PCR analysis and in 12 (5.1%) of 237 ulcers positive by M-PCR analysis (P = .03). Lymphogranuloma venereum was clinically diagnosed in eight patients. Compared with M-PCR analysis, the sensitivity and specificity of a clinical diagnosis of syphilis, herpes, and chancroid were 67.7%, 53.8%, and 75% and 91.2%, 83.6%, and 75.4%, respectively. Reactive syphilis serology was 74% sensitive and 85% specific compared with M-PCR analysis. Reported contact with a prostitute in the preceding 3 months was associated with chancroid (P = .009), reactive syphilis serology (P = .011), and HIV infection (P = .007). The relatively poor accuracy of clinical and locally available laboratory diagnoses pleads for syndromic management of genital ulcers in Jamaica. Prevention efforts should be intensified.

  8. Reliability of clinical diagnosis and laboratory testing techniques currently used for identification of canine parvovirus enteritis in clinical settings

    Science.gov (United States)

    FAZ, Mirna; MARTÍNEZ, José Simón; QUIJANO-HERNÁNDEZ, Israel; FAJARDO, Raúl

    2016-01-01

    Canine parvovirus type 2 (CPV-2) is the main etiological agent of viral enteritis in dogs. Actually in literature, CPV-2 has been reported with clinical signs that vary from the classical disease, and immunochromatography test and PCR technique have been introduced to veterinary hospitals to confirm CPV-2 diagnosis and other infections. However, the reliability of these techniques has been poorly analyzed. In this study, we evaluated the sensitivity and specificity of veterinary clinical diagnosis, immunochromatography test and PCR technique. Our data indicate that variations in the clinical signs of CPV-2 complicate the gathering of an appropriate diagnosis; and immunochromatography test and PCR technique do not have adequate sensitivity to diagnose positive cases. PMID:27818461

  9. Piriformis Syndrome in Fibromyalgia: Clinical Diagnosis and Successful Treatment

    OpenAIRE

    Md Abu Bakar Siddiq; Moshiur Rahman Khasru; Rasker, Johannes J

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis m...

  10. Hyperthyroidism in four guinea pigs: clinical manifestations, diagnosis, and treatment.

    Science.gov (United States)

    Künzel, F; Hierlmeier, B; Christian, M; Reifinger, M

    2013-12-01

    Hyperthyroidism was diagnosed in four guinea pigs by demonstration of an increased serum total thyroxine concentration. The main clinical signs were comparable with those observed in feline hyperthyroidism and included weight loss despite maintenance of appetite and a palpable mass in the ventral cervical region. Three animals were treated successfully with methimazole for between 13 and 28 months. Clinical signs and regular measurement of circulating total thyroxine concentrations appear to be convenient parameters for monitoring response to medical therapy.

  11. Preoperative diagnosis of pelvic actinomycosis by clinical cytology

    OpenAIRE

    2012-01-01

    Katsuya Matsuda,1 Hisayoshi Nakajima,2 Khaleque N Khan,1 Terumi Tanigawa,1 Daisuke Hamaguchi,1 Michio Kitajima,1 Koichi Hiraki,1 Shingo Moriyama,3 Hideaki Masuzaki11Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, 2Department of Health Sciences, Nagasaki University Graduate School of Biomedical Sciences, 3Shimabara Maternity Clinic, Nagasaki, JapanBackground: The purpose of this work was to investigate whether clinical cytology could be usef...

  12. Diagnosis and clinical assessment of a stiff shoulder.

    Science.gov (United States)

    Armstrong, Alison

    2015-04-01

    The assessment of a stiff shoulder is explored, the necessary investigations to reach a diagnosis are discussed, and the likely causes that can contribute to a frozen shoulder are described. Two flow diagrams are included to help in reaching a conclusion when seeing a patient with a stiff shoulder. The key elements to reaching that conclusion are: carefully listening to the patients story, noting whether there has been a history of trauma, as well as a careful and thorough examination and a plain X-ray with two views.

  13. The clinical features, diagnosis and management of recurrent thymoma.

    Science.gov (United States)

    Luo, Taobo; Zhao, Hongguang; Zhou, Xinming

    2016-08-31

    Thymoma is a disease with malignant potential, which has a recurrence rate after complete resection ranging from 5 to 50 %. Multiple studies on the risk factors, treatment or prognosis have been reported. Many of them are controversial, however. In this review, we summarized some accepted risk factors, means of diagnosis and different treatments of recurrent thymoma. The risk factors of recurrent thymoma haven't been well-studied, and its management remains controversial. We reviewed the literatures and found some key points which should be noticed during the surgery of initial thymoma. Although reoperation should be taken into account preferentially, multimodal treatments are also available. The prognosis are also been discussed.

  14. Tongue base schwannoma: differential diagnosis and imaging features with a case presentation

    OpenAIRE

    2016-01-01

    Schwannomas are slow growing, encapsulated neoplasms that arise from the nerve sheath. A vast majority of these benign neoplasms occur in the head and neck region, most commonly involving the 8th cranial nerve. Schwannomas arising from the base of tongue are very rare and, thus, can easily escape the list of differential diagnosis for a posterior tongue mass. A systematic approach is recommended for diagnosis of a posterior tongue mass, with neoplastic, infectious, and congenital categories. ...

  15. Predictive indices of empirical clinical diagnosis of malaria among under-five febrile children attending paediatric outpatient clinic

    Directory of Open Access Journals (Sweden)

    Hassan A Elechi

    2015-01-01

    Full Text Available Background: Malaria has remained an important public health problem in Nigeria with children under 5 years of age bearing the greatest burden. Accurate and prompt diagnosis of malaria is an important element in the fight against the scourge. Due to the several limitations of microscopy, diagnosis of malaria has continued to be made based on clinical ground against several World Health Organization (WHO recommendations. Thus, we aim to assess the performance of empirical clinical diagnosis among febrile children under 5 years of age in a busy pediatric outpatient clinic. Materials and Methods: The study was a cross-sectional study. Children aged <5 years with fever or 72 h history of fever were recruited. Children on antimalarial prophylaxis or on treatment for malaria were excluded. Relevant information was obtained from the caregiver and clinical note of the child using interviewer administered questionnaire. Two thick and two thin films were made, stained, and read for each recruited child. Data was analysed using SPSS version 16. Results: Of the 433 children studied, 98 (22.6% were empirically diagnosed as having malaria and antimalarial drug prescribed. Twenty-three (23.5% of these children were confirmed by microscopy to have malaria parasitemia, while 75 (76.5% were negative for malaria parasitemia. Empirical clinical diagnosis show poor predictive indices with sensitivity of 19.2%, specificity of 76.0%, positive predictive value of 23.5% and negative predictive value of 71%. Conclusion and Recommendations: Empirical clinical diagnosis of malaria among the under-five children with symptoms suggestive of acute malaria is highly not reliable and hence the need to strengthen parasitological diagnosis.

  16. Diagnosis of Fanconi anemia in children with atypical clinical features: a primary study

    Institute of Scientific and Technical Information of China (English)

    LIU Rong; HU Tao; LI Jun-hui; LIANG Chao; GU Wei-yue; SHI Xiao-dong; WANG Hong-xing

    2013-01-01

    Background Fanconi anemia is a severe congenital disorder associated with mutations in a cluster of genes responsible for DNA repair.Arriving at an accurate and timely diagnosis can be difficult in cases of Fanconi anemia with atypical clinical features.It is very important to increase the rate of accurate diagnosis for such cases in a clinical setting.The purpose of this study is to explore the clinical diagnosis of Fanconi anemia in children with atypical clinical features.Methods Six cases of Fanconi anemia with atypical clinical features were enrolled in the study,and their clinical features were recorded,their FANCA gene transcription was assessed by RT-PCR,and FANCA mutations and the ubiquitination of FANCD2 protein were analyzed using DNA sequencing and western blotting respectively.Results All six cases showed atypical clinical features including no apparent deformities,lack of response to immune therapy,and progressively increasing bone marrow failure.They also have significantly increased fetal hemoglobin,negative mitomycin-induced fracture test results,and carry a FANCA gene missense mutation.Single protein ubiquitination of FANCD2 was not observed in those patients.Conclusion The combination of clinical features,FANCA pathogenic gene mutation genotype and the absence of FANCD2 protein ubiquitination are helpful in the accurate and timely diagnosis of Fanconi anemia in children.

  17. ESCMID and ECMM Joint Clinical Guidelines for the Diagnosis and Management of Mucormycosis 2013

    NARCIS (Netherlands)

    Cornely, O.A.; Arikan-Akdagli, S.; Dannaoui, E.; Groll, A.H.; Lagrou, K.; Chakrabarti, A.; Lanternier, F.; Pagano, L.; Skiada, A.; Akova, M.; Arendrup, M.C.; Boekhout, T.; Chowdhary, A.; Cuenca-Estrella, M.; Freiberger, T.; Guinea, J.; Guarro, J.; de Hoog, S.; Hope, W.; Johnson, E.; Kathuria, S.; Lackner, M.; Lass-Flörl, C.; Lortholary, O.; Meis, J.F.; Meletiadis, J.; Muñoz, P.; Richardson, M.; Roilides, E.; Tortorano, A.M.; Ullmann, A.J.; van Diepeningen, A.; Verweij, P.; Petrikkos, G.

    2014-01-01

    These European Society for Clinical Microbiology and Infectious Diseases and European Confederation of Medical Mycology Joint Clinical Guidelines focus on the diagnosis and management of mucormycosis. Only a few of the numerous recommendations can be summarized here. To diagnose mucormycosis, direct

  18. Digital Device in Postextraction Implantology: A Clinical Case Presentation

    Directory of Open Access Journals (Sweden)

    A. E. Borgonovo

    2014-01-01

    Full Text Available Aim. The aim of this work is to describe a case of immediate implant placement after extraction of the upper right first premolar, with the use of CAD/CAM technology, which allows an early digital impression of the implant site with an intraoral scanner (MHT 3D Progress, Verona, Italy. Case Report. A 46-year-old female was referred with a disorder caused by continuous debonding of the prosthetic crown on the upper right first premolar. Clinically, there were no signs, and the evaluation of the periapical radiograph showed a fracture of the root, with a mesial well-defined lesion of the hard tissue of the upper right first premolar, as the radiolucent area affected the root surface of the tooth. It was decided, in accordance with the patient, that the tooth would be extracted and the implant (Primer, Edierre implant system, Genoa, Italy with diameter of 4.2 mm and length of 13 mm would be inserted. After the insertion of the implant, it was screwed to the scan abutment, and a scan was taken using an intraoral scanner (MHT 3D Progress, Verona, Italy. The scanned images were processed with CAD/CAM software (Exocad DentalCAD, Darmstadt, Germany and the temporary crown was digitally drawn (Dental Knowledge, Milan, Italy and then sent to the milling machine for production with a composite monoblock. After 4 months, when the implant was osteointegrated, it was not necessary to take another dental impression, and the definitive crown could be screwed in. Conclusion. The CAD/CAM technology is especially helpful in postextraction implant for aesthetic rehabilitation, as it is possible to immediately fix a provisional crown with an anatomic shape that allows an optimal healing process of the tissues. Moreover, the removal of healing abutments, and the use of impression copings, impression materials, and dental stone became unnecessary, enabling the reduction of the chair time, component cost, and patient’s discomfort. However, it is still necessary

  19. Agreement in the diagnosis of dental fluorosis in central incisors performed by a standardized photographic method and clinical examination.

    Science.gov (United States)

    Martins, Carolina Castro; Chalub, Loliza; Lima-Arsati, Ynara Bosco; Pordeus, Isabela Almeida; Paiva, Saul Martins

    2009-05-01

    The aim of this study was to assess agreement in the diagnosis of dental fluorosis performed by a standardized digital photographic method and a clinical examination (gold standard). 49 children (aged 7-9 years) were clinically evaluated by a trained examiner for the assessment of dental fluorosis. Central incisors were evaluated for the presence or absence of dental fluorosis and were photographed with a digital camera. Photographs were presented to three pediatric dentists, who examined the images. Data were analyzed using Cohen's kappa and validity values. Agreement in the diagnosis performed by the photographic method and clinical examination was good (0.67) and accuracy was 83.7%. The prevalence of dental fluorosis was reported to be higher in the clinical examination (49%) compared with the photographic method (36.7%). The photographic method presented higher specificity (96%) than sensitivity (70.8%), a positive predictive value (PPV) of 94.4% and a negative predictive value (NPV) of 77.4%. The diagnosis of dental fluorosis performed using the photographic method presented high specificity and PPV, which indicates that the method is reproducible and reliable for recording dental fluorosis.

  20. Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis

    OpenAIRE

    Ying-shuang Zhang; A-ping Sun; Lu Chen; Rong-fang Dong; Yan-feng Zhong; Jun Zhang

    2015-01-01

    Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysiological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neuropathy (n = 6), perineuritis (n = 2), chronic inflammatory demyelinating polyradiculoneuropathy (n = 2) or Lewis-Sumner synd...

  1. Poor R wave progression in the precordial leads: clinical implications for the diagnosis of myocardial infarction.

    Science.gov (United States)

    DePace, N L; Colby, J; Hakki, A H; Manno, B; Horowitz, L N; Iskandrian, A S

    1983-12-01

    A definite diagnosis of anterior myocardial infarction is often difficult to make in patients when a pattern of poor R wave progression in the precordial leads is present on the electrocardiogram. The purpose of this study was to determine whether a mathematical model could be devised to identify patients with anterior infarction among 102 consecutive patients with poor R wave progression. Each patient underwent exercise testing with thallium scanning. The diagnosis of anterior infarction was established in 20 (20%) of the 102 patients by the presence of fixed thallium-201 perfusion defects in the anterior wall or septum, or both. With the use of a multivariate stepwise discriminant analysis of clinical and electrocardiographic variables, five variables (sex, ST-T changes, S wave amplitude in leads V2 and V3 and the sum of the R wave amplitude in leads V3 and V4) that were statistically significant by univariate analysis were selected by the model to identify patients with anterior infarction (sensitivity 85%, specificity 71%). The discriminant model was subsequently applied prospectively to an additional 21 patients with poor R wave progression and provided a sensitivity of 85% and a specificity of 88%. Thus, anterior infarction (fixed thallium-201 defects in the anteroseptal segments) was present in 20% of patients with poor R wave progression in the precordial leads; and a mathematical model can be used to identify a subset of patients with anterior infarction in a group of patients with poor R wave progression.

  2. Pulmonary embolism in the elderly: a review on clinical, instrumental and laboratory presentation

    Directory of Open Access Journals (Sweden)

    Luca Masotti

    2008-06-01

    Full Text Available Luca Masotti1,8, Patrick Ray2, Marc Righini3, Gregoire Le Gal4, Fabio Antonelli5, Giancarlo Landini1, Roberto Cappelli6, Domenico Prisco7, Paola Rottoli81Internal Medicine, Cecina Hospital, Cecina, Italy; 2Department of Emergency Medicine, Centre Hospitalo-Universitaire Pitié-Salpêtrière, Université Pierre et Marie Curie-Paris 6, Paris, France; 3Division of Angiology and Hemostasis, Geneva University Hospital and Faculty of Medicine, Geneva, Switzerland; 4Department of Internal Medicine and Chest Diseases, Brest University Hospital, Brest, France; 5Clinical Chemistry, Cecina Hospital, Cecina, Italy; 6Department of Internal, Cardiovascular and Geriatric Medicine, University of Siena, Siena, Italy; 7Department of Critical Care Medicine, Thrombosis Centre, Careggi Hospital, Florence, Italy; 8Departiment of Clinical Medicine and Immunological Sciences, Division of Respiratory Diseases, University of Siena, Siena, ItalyObjective: Diagnosis of pulmonary embolism (PE remains difficult and is often missed in the elderly due to nonspecific and atypical presentation. Diagnostic algorithms able to rule out PE and validated in young adult patients may have reduced applicability in elderly patients, which increases the number of diagnostic tools use and costs. The aim of the present study was to analyze the reported clinical presentation of PE in patients aged 65 and more.Materials and Methods: Prospective and retrospective English language studies dealing with the clinical, instrumental and laboratory aspects of PE in patients more than 65 and published after January 1987 and indexed in MEDLINE using keywords as pulmonary embolism, elderly, old, venous thromboembolism (VTE in the title, abstract or text, were reviewed.Results: Dyspnea (range 59%–91.5%, tachypnea (46%–74%, tachycardia (29%–76%, and chest pain (26%–57% represented the most common clinical symptoms and signs. Bed rest was the most frequent risk factor for VTE (15%–67%; deep vein

  3. Paroxysmal hemicrania as the clinical presentation of giant cell arteritis

    Directory of Open Access Journals (Sweden)

    Jennifer L. Beams

    2011-11-01

    Full Text Available Head pain is the most common complaint in patients with giant cell arteritis but the headache has no distinct diagnostic features. There have been no published reports of giant cell arteritis presenting as a trigeminal autonomic cephalalgia. We describe a patient who developed a new onset headache in her fifties, which fit the diagnostic criteria for paroxysmal hemicrania and was completely responsive to corticosteroids. Removal of the steroid therapy brought a reemergence of her headaches. Giant cell arteritis should be considered in the evaluation of secondary causes of paroxysmal hemicrania; in addition giant cell arteritis needs to be ruled out in patients who are over the age of 50 years with a new onset trigeminal autonomic cephalalgia.

  4. A rare presentation of clinically intractable hypertension: Pancreatic paraganglioma

    Directory of Open Access Journals (Sweden)

    Chao-Ming Tseng

    2016-09-01

    Full Text Available Paraganglioma is a rare extra-adrenal pheochromocytoma which originates from chromaffin cells within the ganglia of the sympathetic trunk and of the celiac, renal, suprarenal, and hypogastric plexuses. Pancreatic paragangliomas are rarer still. And even then, paragangliomas are mostly reported to be nonfunctional. We report a case of a 64-year-old woman with underlying disease of hypertension who presented with biliary colic. Contrast-enhanced computer tomography showed an enhancing mass in the uncinate process of the pancreas. Pylorus-sparing Whipple procedure was performed for complete tumor excision. Hypertensive crisis developed after Whipple, which improved after continuous intravenous nicardipine infusion. Pathology revealed a paraganglioma. A 24-h catecholamine urine test showed increased norepinephrine and vanillylmandelic acid level. Functional paraganglioma was diagnosed.

  5. Multiple Autoimmune Syndromes Associated with Psoriasis: A Rare Clinical Presentation

    Directory of Open Access Journals (Sweden)

    Sadia Masood

    2014-03-01

    Full Text Available Autoimmune diseases are known to have association with each other but it is very rare to see multiple autoimmune diseases in one patient. The combination of at least three autoimmune diseases in the same patient is referred to as multiple autoimmune syndrome. The case we are reporting features multiple autoimmune syndrome with five different conditions. The patient had type 1 diabetes mellitus, autoimmune hemolytic anemia, systemic lupus erythematosus, vitiligo, and psoriasis. Psoriasis has rarely been reported previously under the spectrum of autoimmune syndrome. Although the relationship of autoimmune conditions with each other has been explored in the past, this case adds yet another dimension to the unique evolution of autoimmune pathologies. The patient presented with a combination of five autoimmune diseases, which makes it consistent type three multiple autoimmune syndromes with the addition of psoriasis. The current case is unique in this aspect that the combination of these five autoimmune disorders has never been reported in the past.

  6. Diagnosis and Treatment of Mucinous Appendiceal Neoplasm Presented as Acute Appendicitis

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    Ioannis Kehagias

    2016-01-01

    Full Text Available Appendiceal mucocele is a rare cause of acute abdomen. Mucinous appendiceal neoplasms represent 0.2–0.7% of all appendix specimens. The aim of this study is to report a case of a mucinous appendiceal neoplasm presented as acute appendicitis, discussing the clinical and surgical approach in the emergency setting. A 72-year-old female patient was admitted to the emergency department with a clinical examination indicative of acute abdomen. The patient underwent abdominal computed tomography scan which revealed a cystic lesion in the right iliac fossa measuring 8.3 × 5.2 × 4.1 cm, with calcified walls, and a mean density indicative of high protein content. The patient was taken to the operating room and a right hemicolectomy was performed. The postoperative course was unremarkable. The histopathological examination revealed a low-grade mucinous appendiceal neoplasm with negative regional lymph nodes. Ultrasound and CT are useful in diagnosing appendiceal mucocele and synchronous cancers in the emergency setting. The initial operation should include appendectomy and resection of the appendicular mesenteric fat along with any fluid collection for cytologic examination. During urgent appendectomy it is important to consider every mucocele as malignant in order to avoid iatrogenic perforation causing pseudomyxoma peritonei. Although laparotomy is recommended, the laparoscopic approach is not contraindicated.

  7. What's in a Label? Is Diagnosis the Start or the End of Clinical Reasoning?

    Science.gov (United States)

    Ilgen, Jonathan S; Eva, Kevin W; Regehr, Glenn

    2016-04-01

    Diagnostic reasoning has received substantial attention in the literature, yet what we mean by "diagnosis" may vary. Diagnosis can align with assignment of a "label," where a constellation of signs, symptoms, and test results is unified into a solution at a single point in time. This "diagnostic labeling" conceptualization is embodied in our case-based learning curricula, published case reports, and research studies, all of which treat diagnostic accuracy as the primary outcome. However, this conceptualization may oversimplify the richly iterative and evolutionary nature of clinical reasoning in many settings. Diagnosis can also represent a process of guiding one's thoughts by "making meaning" from data that are intrinsically dynamic, experienced idiosyncratically, negotiated among team members, and rich with opportunities for exploration. Thus, there are two complementary constructions of diagnosis: 1) the correct solution resulting from a diagnostic reasoning process, and 2) a dynamic aid to an ongoing clinical reasoning process. This article discusses the importance of recognizing these two conceptualizations of "diagnosis," outlines the unintended consequences of emphasizing diagnostic labeling as the primary goal of clinical reasoning, and suggests how framing diagnosis as an ongoing process of meaning-making might change how we think about teaching and assessing clinical reasoning.

  8. Clinical criteria for the diagnosis of salivary gland hypofunction.

    Science.gov (United States)

    Navazesh, M; Christensen, C; Brightman, V

    1992-07-01

    There is considerable difficulty in the making of initial clinical decisions as to whether a given patient has salivary gland hypofunction, and hence requires additional salivary gland evaluation. This study identified a set of four clinical measures that, together, successfully predicted the presence or absence of salivary gland hypofunction. The four measures were: dryness of lips, dryness of buccal mucosa, absence of saliva produced by gland palpation, and total DMFT; they were derived from discriminant analysis of data collected from 71 individuals with normal and low salivary flow rates. These measures are proposed as criteria for clinical decision-making, as well as for classification of patients in studies of salivary gland dysfunction syndromes. This study also identified unstimulated whole salivary flow rates of 0.12-0.16 mL/min as the critical range separating individuals with salivary gland hypofunction from those with normal gland function.

  9. Graphospasm - clinical presentation, etiology and the course of disease: Analysis of 30 cases

    Directory of Open Access Journals (Sweden)

    Kačar Aleksandra

    2004-01-01

    Full Text Available INTRODUCTION Dystonia, as prolonged, involuntary muscle contraction, causes torsion, repetitive movements and abnormal body position. In so far only a part of body is affected by dystonic movement, it is the question of focal dystonia, which is called writer's cramp if the arm is involved. OBJECTIVE The objective of the study was to present the specific clinical features of patients with task-specific dystonia, who were diagnosed, treated and followed up at the Institute of Neurology, Clinical Center of Serbia, Belgrade. MATERIAL AND METHODS In the period 1995-2003, 30 patients with task-specific dystonia were treated at the Institute of Neurology, CCS, who met the adopted criteria for diagnosis. The severity of the diseases was tested by estimating the ability of patient to write the test sentence per time unit, as well as by means of scale for measuring different disabilities, ranging from 0-16 (Marsden-Fahn. Depression, anxiety and obsessiveness were tested by Beck's scale, Hamilton's depression and anxiety scale and Mousdly's obsessiveness scale. Thorough questionnaire focused on clinical details was also used. Besides descriptive statistics, data processing included analysis of variance and Kruskal-Wallis's test. RESULTS Thirty patients with diagnosis of task-specific dystonia were analyzed. At the onset of the disease, mean-age was 34.1 years (SD=11.4; 13-58, while the duration of disease at the moment of the examination was 10.3 years (SD=10.6; 1-39. There were 20 males and 10 females (sex ratio 2:1. None of the patients reported any history of trauma of subsequently affected region before the development of discomforts. Twelve patients used their hands for a long time during their professions (writing, playing the instrument, type-writing, etc.. Eight patients were typists (26.6%, four were musicians (13.3%, while the rest of cases (18 had some other occupations that did not necessarily imply long-term use of hands (office worker

  10. Cardiac asthma in elderly patients: incidence, clinical presentation and outcome

    Directory of Open Access Journals (Sweden)

    Ray Patrick

    2007-05-01

    Full Text Available Abstract Background Cardiac asthma is common, but has been poorly investigated. The objective was to compare the characteristics and outcome of cardiac asthma with that of classical congestive heart failure (CHF in elderly patients. Methods Prospective study in an 1,800-bed teaching hospital. Results Two hundred and twelve consecutive patients aged ≥ 65 years presenting with dyspnea due to CHF (mean age of 82 ± 8 years were included. Findings of cardiac echocardiography and natriuretic peptides levels were used to confirm CHF. Cardiac asthma patients were defined as a patient with CHF and wheezing reported by attending physician upon admission to the emergency department. The CHF group (n = 137 and the cardiac asthma group (n = 75, differed for tobacco use (34% vs. 59%, p 2 (47 ± 15 vs. 41 ± 11 mmHg, p Conclusion Patients with cardiac asthma represented one third of CHF in elderly patients. They were more hypercapnic and experienced more distal airway obstruction. However, outcomes were similar.

  11. Primitive neuroectodermal tumor of adrenal: clinical presentation and outcomes.

    Science.gov (United States)

    Dutta, Deep; Shivaprasad, K S; Das, Ram Narayan; Ghosh, Sujoy; Chowdhury, Subhankar

    2013-01-01

    Primitive neuroectodermal tumor (PNET) of adrenal is an extremely rare tumor of neural crest origin. A nonfunctional left adrenal mass (14.6 × 10.5 × 10.0 cm) on computed tomography (CT) was detected in a 40-year-old lady with abdominal pain, swelling, and left pleural effusion. She underwent left adrenalectomy and left nephrectomy with retroperitoneal resection. Histopathology revealed sheets and nest of oval tumor cells with hyperchromatic nuclei, prominent nucleoli, scanty cytoplasm, brisk mitotic activity, necrosis, lymphovascular invasion, capsular invasion, and extension to the surrounding muscles; staining positive for Mic-2 (CD-99 antigen), vimentin, synaptophysin, and Melan-A. Thoracocentesis, pleural fluid study, and pleural biopsy did not show metastasis. She responded well to vincristine, adriamycin, and cyclophosphamide followed by ifosfamide and etoposide (IE). This is the first report of adrenal peripheral PNET (pPNET) from India. This report intends to highlight that pPNET should be suspected in a patient presenting with huge nonfunctional adrenal mass which may be confused with adrenocortical carcinoma.

  12. Primitive neuroectodermal tumor of adrenal: Clinical presentation and outcomes

    Directory of Open Access Journals (Sweden)

    Deep Dutta

    2013-01-01

    Full Text Available Primitive neuroectodermal tumor (PNET of adrenal is an extremely rare tumor of neural crest origin. A nonfunctional left adrenal mass (14.6 × 10.5 × 10.0 cm on computed tomography (CT was detected in a 40-year-old lady with abdominal pain, swelling, and left pleural effusion. She underwent left adrenalectomy and left nephrectomy with retroperitoneal resection. Histopathology revealed sheets and nest of oval tumor cells with hyperchromatic nuclei, prominent nucleoli, scanty cytoplasm, brisk mitotic activity, necrosis, lymphovascular invasion, capsular invasion, and extension to the surrounding muscles; staining positive for Mic-2 (CD-99 antigen, vimentin, synaptophysin, and Melan-A. Thoracocentesis, pleural fluid study, and pleural biopsy did not show metastasis. She responded well to vincristine, adriamycin, and cyclophosphamide followed by ifosfamide and etoposide (IE. This is the first report of adrenal peripheral PNET (pPNET from India. This report intends to highlight that pPNET should be suspected in a patient presenting with huge nonfunctional adrenal mass which may be confused with adrenocortical carcinoma.

  13. [Lung eosinophilic syndrome: clinical presentation and cases report].

    Science.gov (United States)

    Egea, N; Merlo, A; Esponda, L; Cazaux, A; Cambursano, V H; Cortés, J R

    2014-01-01

    Introducción: El síndrome de eosinofilia pulmonar se caracteriza por un grupo de patologías que presentan afección clínico – radiológica pulmonar con eosinofilia periférica o en parénquima pulmonar en su evolución. Materiales y métodos: Se describen las características de presentaciones clínico-radiológicas y evolutivas de pacientes atendidos entre 2007 y 2010 en Hospital Rawson. Resultados: Sobre 8 casos, se observó mayor número de casos en mujeres. Los signos y síntomas principales fueron tos, disnea, fiebre y sibilancias. Los hallazgos radiológicos más prevalentes fueron patrón alveolar y alveolointersticial. En la TAC el más frecuente fue el patrón en vidrio esmerilado. La eosinofilia periférica presentó valores entre 550 y 10.000 cel/mm3. Los pacientes fueron abdordados inicialmente como neumonía adquirida en la comunidad en el 62% de los casos. Los diagnósticos principales realizados fueron neumonía eosinofílica aguda y crónica, ambas con respuesta a esteroides. Conclusiones: El síndrome de eosinofilias pulmonares comparte características clínico-radiológicas comunes con entidades de mayor prevalencia, particularmente NAC.

  14. Rotating-crystal Malaria Diagnosis: Pre-clinical validation

    CERN Document Server

    Orban, Agnes; Prohle, Zsofia; Fulop, Gergely; Zelles, Tivadar; Forsyth, Wasan; Hill, Danika; Schofield, Louis; Mueller, Ivo; Karl, Stephan; Kezsmarki, Istvan

    2013-01-01

    Improving the efficiency of malaria diagnosis is one of the main goals of current malaria research. We have recently developed a magneto-optical (MO) method which allows high-sensitivity detection of malaria pigment (hemozoin) crystals via their magnetically induced rotation in blood. Here, we validate this technique on laboratory derived blood samples infected with \\textit{Plasmodium falciparum}. Using two parasite cultures, the first containing mostly ring stages and the second corresponding to the end of the parasite life cycle, we demonstrate that our novel method can detect parasite densities as low as $\\sim$40 and $\\sim$10\\,parasites per microliter of blood for ring and schizont stage parasites, respectively. This detection limit exceeds the performance of rapid diagnostic tests and competes with the threshold achievable by light microscopic observation of blood smears. Our method can be performed with as little as 50\\,microliter of capillary blood and is sensitive to the presence of hemozoin micro-crys...

  15. Excavated pulmonary nodules: an unusual clinical presentation of lung metastasis in two cases

    Directory of Open Access Journals (Sweden)

    Lalya Issam

    2010-06-01

    Full Text Available Abstract Background Excavated pulmonary metastasis are rare. We present two cases of excavated pulmonary nodules proved to be metastases from osteosarcoma and gallblader lymphoma. Case presentation The first one is 39-year-old man in whom cholecystectomy made the diagnosis of primary non-Hodgkin's lymphoma of the gallbladder. He presented in chest CT scan excavated nodules that had been biopsied and confirmed the diagnosis of non hodgkin lymphoma. He underwent 8 courses of chemotherapy CHOP 21 with complete remission. The second one is an 21 years old man who presented a right leg osteoblastic osteosarcoma with only excavated pulmonary nodules in extension assessment. He had 3 courses of polychemotherapy API (doxorubicin, platinum, and ifosfamide with partial response. Unfortunately, he died following a septic shock. Review of the literature shows that excavated pulmonary nodules as metastasis are rare but we should consider this diagnosis every time we are in front of a cancer. Chest computed tomography is the best diagnosis imaging that could make this diagnosis. Differential diagnosis between benign and malignant bullous lesions is important because surgical excision affects survival in some malignancies. Conclusions Although pulmonary nodules are the most common cancer metastasis, a differential diagnosis of a concurrent primary malignancy should always be considered every time we have excavated lesions, even in patients with known malignant disease. Thorough chest evaluation is important, as multiple primary malignancies may occur concomitantly.

  16. DIAGNOSTIC PROFILE IN CHILDREN PRESENTING WITH POOR SCHOLASTIC PERFORMANCE—A CLINIC BASED STUDY

    Directory of Open Access Journals (Sweden)

    Jayaprakash

    2013-02-01

    Full Text Available ABSTRACT: BACKGROUND: Learning is not a unitary process involving teacher and student. It also depends on the relationship and interplay of fami lial, psychological, educational, social and economical atmosphere in and around the child. AIM: The present study was done to formulate a diagnostic profile and compare the co-morbidity sta tus in children presenting with poor scholastic performance in a Child Guidance Clinic s et up. SETTINGS AND DESIGN: A sample of 100 children from the age of 4 years to 12 years at tending the Child Guidance Clinic under the department of Paediatrics in a medical college set u p with history of poor scholastic performance was collected. The study design was case study method. METHODS AND MATERIALS: Detailed psychological analysis was done and diagno sis was made by using the ICD – 10 diagnostic guidelines and multi axial diag nostic system. The study population was divided in to failure (group II and non failure (gr oup I groups based on the repetition of grade and the psychiatric morbidity was compared. STATISTICAL ANALYSIS: Statistical analysis was done by SPSS (Statistical Package for the Social Sc iences and chi square test. RESULTS AND CONCLUSIONS: Psychiatric morbidity was present in 42%, developmen tal disorders in 34%, Non psychiatric medical diagnosis in 25% and abnorma l psychosocial situation in 31% of the sample population. Multiple diagnoses were present in 1 6%. Comparison shows that Prevalence of psychiatric co morbidity was more in the failure group than the non failure group. Scholastic backwardness in children is a complex issue, having various causes. Each child’s problem is unique in nature. So a multi disciplinary interventi on is needed at Paediatric level itself.

  17. An Interactive Diagnosis Approach for Supporting Clinical Nursing Courses

    Science.gov (United States)

    Wei, Chun-Wang; Lin, Yi-Chun; Lin, Yen-Ting

    2016-01-01

    Clinical resources in nursing schools are always insufficient for satisfying the practice requirements of each student at the same time during a formal course session. Although several studies have applied information and communication technology to develop computer-based learning tools for addressing this problem, most of these developments lack…

  18. Clinical consequences of PCR based diagnosis of intestinal parasitic infections

    NARCIS (Netherlands)

    Rijsman, Lucas H; Monkelbaan, Jan F; Kusters, Johannes G

    2016-01-01

    The implementation of Polymerase Chain Reaction (PCR) based diagnostics of intestinal protozoa have led to higher sensitivity and (subtype) specificity, more convenient sampling and the possibility for high-throughput screening. An increasing number of clinical laboratories use PCR for routine detec

  19. How Clinical Diagnosis Might Exacerbate the Stigma of Mental Illness

    Science.gov (United States)

    Corrigan, Patrick W.

    2007-01-01

    Stigma can greatly exacerbate the experience of mental illness. Diagnostic classification frequently used by clinical social workers may intensify this stigma by enhancing the public's sense of "groupness" and "differentness" when perceiving people with mental illness. The homogeneity assumed by stereotypes may lead mental health professionals and…

  20. Primary testicular necrotizing vasculitis clinically presented as neoplasm of the testicle: a case report

    Directory of Open Access Journals (Sweden)

    Španjol Josip

    2011-06-01

    Full Text Available Abstract We present a case of necrotizing vasculitis with the testicle as the isolated affected organ. A 25-year-old man, pretreated for epididymo-orchitis, presented with a presumed testicular neoplasm. Radical orchiectomy was performed and diagnosis of necrotizing vasculitis was established. In the absence of any other sign of systemic disease, the diagnosis of isolated necrotizing vasculitis of the testis was confirmed. Two years after the operation, the patient showed no symptoms of systemic disease.

  1. Clinical presentation and endoscopic features of primary gastric Burkitt lymphoma in childhood, presenting as a protein-losing enteropathy: a case report

    Directory of Open Access Journals (Sweden)

    Chieng Jenny Hui Chia

    2009-06-01

    Full Text Available Abstract Introduction Burkitt lymphoma and B cell lymphomas in childhood may arise in many atypical locations, which on rare occasions can include gastric mucosa. A case of primary gastric Burkitt lymphoma is described in a child presenting as a protein-losing enteropathy, including the direct monitoring of the disease response by sequential endoscopic biopsy and molecular analysis. Case presentation We report a 9-year-old boy who presented with gross oedema, ascites and respiratory distress caused by a protein-losing enteropathy. Initial imaging investigations were non-diagnostic but gastroduodenal endoscopy revealed massive involvement of the gastric mucosa with a primary Burkitt lymphoma. His subsequent clinical progress and disease response were monitored directly by endoscopy and he remains in clinical remission 4 years after initial diagnosis. Conclusions This is the first case report of primary Burkitt lymphoma presenting as a protein-losing enteropathy. The clinical course and progress of the patient were monitored by sequential endoscopic biopsy, histology and molecular analysis by fluorescence in situ hybridisation.

  2. COMPARATIVE EVALUATION OF THE EFFECTIVENESS OF THREE METHODS FOR PROXIMAL CARIES DIAGNOSIS – A CLINICAL STUDY.

    OpenAIRE

    Mirela Marinova-Takorova; Radostina Anastasova; Vladimir E. Panov; Spartak Yanakiev

    2014-01-01

    Aim: The aim of the presented study is to compare the effectiveness of the diagnosis with a dental microscope, laser fluorescence (DIAGNOcam) and X-ray examination in proximal caries diagnosis. Material and methods: Thirty-eight adult patients were examined. They were first examined with a dental mirror and a probe, under magnification 6.4 times. After that a diagnosis with DIAGNOcam was performed. Bitewing X-ray images were administered. The data from the three diagnostic methods was comp...

  3. EVALUATION OF DIAGNODENT FOR THE DIAGNOSIS OF FISSURAL CARIES. A CLINICAL STUDY

    Directory of Open Access Journals (Sweden)

    Luiza Ungureanu

    2011-12-01

    Full Text Available Diagnosis of fissural caries, especially in young permanent teeth, is quite difficult to establish, its sometimes aleatory character possibly leading to incorrect therapeutical decisions. The aim of the study is to evaluate laser fluorescence (LF represented by Diagnodent as a diagnosis means, comparatively with the exams involving inspection and probing (VI, the validation test of which is the exploratory drilling. Method: 72 occlusal surfaces of the permanent molars of 10-15 year-old children have been examined, the diagnosis being established by two methods; after validation of the diagnosis through exploratory drilling, specific treatments were performed, exemplified by self-evident clinical cases. Results: The obtained values are: VI sensitivity 68.1%, LF 83.3%, specificity VI 77.7%, LF 50%, comparable with the results of other studies. Conclusions: Due to its increased sensitivity, Diagnodent completes the examination through inspection and probing, for the establishment of a correct diagnosis and treatment of fissural caries.

  4. ANTIPHOSPHOLIPID SYNDROME: DIAGNOSIS AND CLINICAL MANIFESTATIONS (A LECTURE)

    OpenAIRE

    Tat’yana M Reshetnyak

    2014-01-01

    The lecture provides information about the etiology and pathogenesis of antiphospholipid syndrome (APS) and genetic susceptibility to its development. The most recent international diagnostic criteria for APS and its variants have been reported. This syndrome can affect multiple organ systems depending on localization of thrombosis; therefore, nowadays the problem of APS is multidisciplinary. Clinical manifestations of APS are rather general (thrombosis of different localization); thus, the d...

  5. Diagnosis of Autoimmune Pancreatitis: Clinical and Histological Assessment

    OpenAIRE

    Raffaele Pezzilli; Lorenzo Fantini

    2005-01-01

    Autoimmune pancreatitis has received increased attention from clinical and basic researchers in the last few years because it is a field of chronic benign pancreatic diseases in which notable advances have been made. The number of cases of this disease which have been diagnosed has increased in the past few years [1, 2]. Recently, a new paper has been published by French authors whose efforts were addressed towards evaluating the presence of autoimmune pancreatitis in patients with so-called ...

  6. Brainstem tegmental lesions in neonates with hypoxicischemic encephalopathy: Magnetic resonance diagnosis and clinical outcome

    Institute of Scientific and Technical Information of China (English)

    Carlo Cosimo Quattrocchi; Giuseppe Fariello; Daniela Longo

    2016-01-01

    Lesions of the brainstem have been reported in the clinical scenarios of hypoxic-ischemic encephalopathy(HIE), although the prevalence of these lesions is probably underestimated. Neuropathologic studies have demonstrated brainstem involvement in severely asphyxiated infants as an indicator of poor outcome. Among survivors to HIE, the most frequent clinical complaints that may be predicted by brainstem lesions include feeding problems, speech, language and communication problems and visual impairments. Clinical series, including vascular and metabolic etiologies, have found selective involvement of the brainstem with the demonstration of symmetric bilateral columnar lesions of the tegmentum. The role of brainstem lesions in HIE is currently a matter of debate, especially when tegmental lesions are present in the absence of supratentorial lesions. Differential diagnosis of tegmental lesions in neonates and infants include congenital metabolic syndromes and drug-related processes. Brainstem injury with the presence of supratentorial lesions is a predictor of poor outcome and high rates of mortality and morbidity. Further investigation will be conducted to identify specific sites of the brainstem that are vulnerable to hypoxic-ischemic and toxic-metabolic insults.

  7. A review of signal processing techniques for heart sound analysis in clinical diagnosis.

    Science.gov (United States)

    Emmanuel, Babatunde S

    2012-08-01

    This paper presents an overview of approaches to analysis of heart sound signals. The paper reviews the milestones in the development of phonocardiogram (PCG) signal analysis. It describes the various stages involved in the analysis of heart sounds and discrete wavelet transform as a preferred method for bio-signal processing. In addition, the gaps that still exist between contemporary methods of signal analysis of heart sounds and their applications for clinical diagnosis is reviewed. A lot of progress has been made but crucial gaps still exist. The findings of this review paper are as follows: there is a lack of consensus in research outputs; inter-patient adaptability of signal processing algorithm is still problematic; the process of clinical validation of analysis techniques was not sufficiently rigorous in most of the reviewed literature; and as such data integrity and measurement are still in doubt, which most of the time led to inaccurate interpretation of results. In addition, the existing diagnostic systems are too complex and expensive. The paper concluded that the ability to correctly acquire, analyse and interpret heart sound signals for improved clinical diagnostic processes has become a priority.

  8. Psychiatric comorbidity in young adults with a clinical diagnosis of Asperger syndrome.

    Science.gov (United States)

    Lugnegård, Tove; Hallerbäck, Maria Unenge; Gillberg, Christopher

    2011-01-01

    In children with autism spectrum disorders, previous studies have shown high rates of psychiatric comorbidity. To date, studies on adults have been scarce. The aim of the present study was to investigate psychiatric comorbidity in young adults with Asperger syndrome. Participants were 26 men and 28 women (mean age 27 years) with a clinical diagnosis of Asperger syndrome. Psychiatric comorbidity was assessed by the Structured Clinical Interview for DSM-IV Axis I Disorders. IQ was measured using the Wechsler Adult Intelligence Scale, Third Edition. Autism spectrum diagnoses were confirmed using the DIagnostic Interview for Social and Communication Disorders. In our study group, 70% had experienced at least one episode of major depression, and 50% had suffered from recurrent depressive episodes. Anxiety disorders were seen in about 50%. Psychotic disorders and substance-induced disorders were uncommon. In conclusion, young adults with autism spectrum disorders are at high risk for mood and anxiety disorders. To identify these conditions and offer treatment, elevated vigilance is needed in clinical practice.

  9. [Hereditary optic neuropathies: from clinical signs to diagnosis].

    Science.gov (United States)

    Meunier, I; Lenaers, G; Hamel, C; Defoort-Dhellemmes, S

    2013-12-01

    Inherited optic atrophy must be considered when working up any optic nerve involvement and any systemic disease with signs of optic atrophy, even with a negative family history. There are two classical forms: dominant optic atrophy, characterized by insidious, bilateral, slowly progressive visual loss and temporal disc pallor, and Leber's optic atrophy, characterized by acute loss of central vision followed by the same event in the fellow eye within a few weeks to months, with disc hyperemia in the acute phase. Family history is critical for diagnosis. In the absence of family history, the clinician must rule out an identifiable acquired cause, i.e. toxic, inflammatory, perinatal injury, traumatic or tumoral, with orbital and brain imaging (MRI). Recessive optic atrophies are more rare and more severe and occur as part of multisystemic disorders, particularly Wolfram syndrome (diabetes mellitus, diabetes insipidus, and hearing loss). Effective treatments are limited; alcohol and smoking should be avoided. A cyclosporine trial (taken immediately upon visual loss in the first eye) is in progress in Leber's optic atrophy to prevent involvement of the fellow eye.

  10. Early diagnosis of rheumatic diseases: an evaluation of the present situation and proposed changes.

    Science.gov (United States)

    Kwiatkowska, Brygida; Raciborski, Filip; Kłak, Anna; Maślińska, Maria; Gryglewicz, Jerzy

    2015-01-01

    Musculoskeletal pain is a very common complaint, affecting 30-40% of the European population. It is estimated that approximately 400,000 Poles suffer from inflammatory rheumatic diseases, such as rheumatoid arthritis, ankylosing spondylitis and psoriatic arthritis, and a vast majority of those affected are working-age individuals. Patients with suspected arthritis require prompt diagnosis and treatment, as any delays may result in irreversible joint destruction and disability. Currently in Poland, the lag time between the onset of symptoms and diagnosis is, on average, as much as 35 weeks. In this paper, we review the current state of specialist rheumatology care in Poland and propose a reorganised care model that includes early diagnosis of inflammatory arthritis. The main goal we wish to achieve with our reorganised model is to enhance access to outpatient specialist rheumatology care for patients with suspected arthritis. We believe that our model should make it possible to considerably reduce the lag time between GP referral and the diagnosis and treatment by a rheumatologist to as little as 3 to 4 weeks. This article provides a proposal of changes that would achieve this goal and is a summary of the report published by the Institute of Rheumatology in September 2014.

  11. The clinical and pathomorphological diagnosis of mycotoxicosis in different swine categories

    Directory of Open Access Journals (Sweden)

    Prodanov Jasna Z.

    2009-01-01

    Full Text Available The issue of mycotoxins and mycotoxicosis in veterinary medicine is directly connected to the usage of mouldy and/or adversely stored grains (corn, wheat, barley used in animal feed. In swine production, in our geographical region, the most common are mycotoxicosis caused by zearalenon (F-2 toxin, but aflatoxins, ochratoxin and trichothecenes can also be found. For the known mycotoxins of clinical importance, the response is usually subacute or chronic and the presenting clinical signs are often vague. Mostly the problems are expressed only as alterations of the reproductive cycle, reduced feed intake and slow growth. However, if we consider the clinical signs and pathomorphological picture of mycotoxicosis in different swine categories (breeding animals, suckling and weaned piglets, fatteners, the age dependent changes can be found. Some mycotoxins have hepatotoxic, nephrotoxic and immunosuppressive effects, which further complicate the clinical and pathomorphological picture and diagnosis of mycotoxicosis in swine. The material for this research included the samples provided from ten swine farms. In different swine categories health disorders, resembling to the problem with mycotoxins were detected. The applied research methods included clinical evaluation and pathomorphological examination and laboratory microbiological feed testing, in order to examine the presence of fungi and some mycotoxins (aflatoxins, zearalenon, ochratoxin A and trichothecenes. On the basis of the obtained results, it may be concluded that the most frequently detected mycotoxin in the examined feed samples was zearalenon. The presence of mycotoxin in feed was directly connected to the reproductive failures and diagnosed health disorders in the examined swine categories (vulvovaginitis, skin necrosis, pneumonia, gastroenteritis.

  12. Multiple sclerosis, from referral to confirmed diagnosis: an audit of clinical practice.

    LENUS (Irish Health Repository)

    Kelly, S B

    2012-02-01

    BACKGROUND: The National Institute for Health and Clinical Excellence (NICE) guidelines recommend a timeline of 6 weeks from referral to neurology consultation and then 6 weeks to a diagnosis of multiple sclerosis (MS). OBJECTIVES: We audited the clinical management of all new outpatient referrals diagnosed with MS between January 2007 and May 2010. METHODS: We analysed the timelines from referral to first clinic visit, to MRI studies and lumbar puncture (LP) (if performed) and the overall interval from first visit to the time the diagnosis was given to the patient. RESULTS: Of the 119 diagnoses of MS\\/Clinically Isolated Syndrome (CIS), 93 (78%) were seen within 6 weeks of referral. MRI was performed before first visit in 61% and within 6 weeks in a further 27%. A lumbar puncture (LP) was performed in 83% of all patients and was done within 6 weeks in 78%. In total, 63 (53%) patients received their final diagnosis within 6 weeks of their first clinic visit, with 57 (48%) patients having their diagnosis delayed. The main rate-limiting steps were the availability of imaging and LP, and administrative issues. CONCLUSIONS: We conclude that, even with careful scheduling, it is difficult for a specialist service to obtain MRI scans and LP results so as to fulfil NICE guidelines within the optimal six-week period. An improved service would require MRI scans to be arranged before the first clinic visit in all patients with suspected MS.

  13. Diagnosis and management of congenital adrenal hyperplasia: clinical, molecular and prenatal aspects.

    Science.gov (United States)

    Mathur, R; Kabra, M; Menon, P S

    2001-01-01

    Congenital adrenal hyperplasia (CAH) is the most common cause of female pseudohermaphroditism in Indian children. It is caused by enzymatic defects in the steroidogenic pathway of the adrenal glands and is characterized by impaired cortisol and aldosterone synthesis and overproduction of androgens. The disease usually presents with life-threatening problems and virilization, with long term physical and psychological effects. The clinical and laboratory diagnoses play an important role in deciding the course of treatment, which continues lifelong. To ensure proper growth and development of the patient, optimized disease management and treatment with steroids is required. Often the patient also requires surgical correction. Recent developments in molecular genetics have greatly helped in understanding the pathogenesis of the disease. The gene encoding for steroid 21-hydroxylase, CYP21, is located on the short arm of chromosome 6 in the HLA region and is amplified for genetic diagnosis. Rapid characterization of point mutations is possible using the allele-specific polymerase chain reaction technique in affected children. Counselling, prenatal diagnosis and treatment are recommended in all pregnant women with a positive family history to reduce or eliminate the effects in affected foetuses. This spares the female newborn the consequences of genital ambiguity and problems of gender identity.

  14. Hypertrophic pachymeningitis: Current criteria for diagnosis and differentiation (Clinical case and review of literature

    Directory of Open Access Journals (Sweden)

    E. G. Mendelevich

    2015-01-01

    Full Text Available The paper describes a 44-year-old male patient with an about 6-year history of hypertrophic pachymeningitis. The major clinical symptoms were characterized by headache, exophthalmos, and blindness in one eye. The data for differential diagnosis of the disease are given. The current literature on the clinical manifestations of hypertrophic pachymeningitis, its differential diagnosis, and the results of magnetic resonance imaging (MRI is reviewed. Diagnostic difficulties at the stage of a clinical observation are due to the nonspecificity of neurological manifestations and the need for a comprehensive examination to detect a somatic disease. MRI can diagnose the disease-specific phenomenon of damage to the meninges, which calls for further careful differentiation. Clinicians must be familiar with alternative differential diagnosis, as a rapid specific therapeutic approach will help avoid long-term or irreversible neurological complications.

  15. Using the modified Delphi method to establish clinical consensus for the diagnosis and treatment of patients with rotator cuff pathology

    Directory of Open Access Journals (Sweden)

    Breda H. Eubank

    2016-05-01

    Full Text Available Abstract Background Patients presenting to the healthcare system with rotator cuff pathology do not always receive high quality care. High quality care occurs when a patient receives care that is accessible, appropriate, acceptable, effective, efficient, and safe. The aim of this study was twofold: 1 to develop a clinical pathway algorithm that sets forth a stepwise process for making decisions about the diagnosis and treatment of rotator cuff pathology presenting to primary, secondary, and tertiary healthcare settings; and 2 to establish clinical practice guidelines for the diagnosis and treatment of rotator cuff pathology to inform decision-making processes within the algorithm. Methods A three-step modified Delphi method was used to establish consensus. Fourteen experts representing athletic therapy, physiotherapy, sport medicine, and orthopaedic surgery were invited to participate as the expert panel. In round 1, 123 best practice statements were distributed to the panel. Panel members were asked to mark “agree” or “disagree” beside each statement, and provide comments. The same voting method was again used for round 2. Round 3 consisted of a final face-to-face meeting. Results In round 1, statements were grouped and reduced to 44 statements that met consensus. In round 2, five statements reached consensus. In round 3, ten statements reached consensus. Consensus was reached for 59 statements representing five domains: screening, diagnosis, physical examination, investigations, and treatment. The final face-to-face meeting was also used to develop clinical pathway algorithms (i.e., clinical care pathways for three types of rotator cuff pathology: acute, chronic, and acute-on-chronic. Conclusion This consensus guideline will help to standardize care, provide guidance on the diagnosis and treatment of rotator cuff pathology, and assist in clinical decision-making for all healthcare professionals.

  16. Intracranial Hypotension Syndrome, Diagnosis and Treatment in Radiology Clinics

    Directory of Open Access Journals (Sweden)

    S. Albayram

    2005-08-01

    Full Text Available Introduction & Background: Only 12 years ago the first report on pachymeningeal gadolinium enhance-ment in low-pressure headaches appeared in the lit-erature. Intracranial hypotension is a result of low CSF volume caused by either spontaneous or postoperative leakage. The syndrome has been reported to occur after head trauma, a tear in a spinal nerve root sheath, perineural cyst, or spinal arachnoid diverticulum. Iatrogenic causes include lumbar puncture or overdraining ventricular or spinal shunts. Spontaneous intracranial hypotension is thought to result from rupture of a spinal arachnoid membrane that allows CSF passage into the subdural or epidural space. It is typically not attributable to a major traumatic event or prior diagnostic or therapeutic intervention; however, intracranial hypotension may be associated with a history of minor trauma such as sports activities or severe coughing. Diffuse pachymeningeal enhancement is thought to reflect the Monro-Kellie rule, which describes the inverse relationship of CSF volume and intracranial blood volume within the rigid confines of the skull. This reflex mechanism protects nervous tissue by maintaining a constant buffer (ie, blood or CSF subjacent to its bony covering. Though this principle was described for intracranial processes and helps to explain the reason for intracranial pachymeningeal enhancement, it can also be applied to the bony spinal canal. Explaining pachymeningeal enhancement in the spine becomes more difficult because the hypervascular outer dural layer covering the brain does not extend to cover the spine, and the single layer of dura that does cover the spine is relatively avascular. Perhaps reports of pachymeningeal enhancement along the spinal canal in intracranial hypotension more accurately reflect prominent epidural venous engorgement. In all cases of intracranial hypotension reported in the literature, patients presented with headaches. These headaches are typically

  17. [Clinical types of FTLD: progressive nonfluent aphasia; comparative discussions on the associated clinical presentations].

    Science.gov (United States)

    Fukui, Toshiya

    2009-11-01

    Progressive nonfluent aphasia (PNFA) is one of the 3 clinical presentations of frontotemporal lobar degeneration (FTLD), the other 2 being frontotemporal dementia and semantic dementia (SD). PNFA and SD, both representing relentlessly progressive language impairment in the realm of FTLD, may share a large part with primary progressive aphasia (PPA). A salient distinction between PPA and PNFA or SD is that PPA includes another clinical type, namely, logopenic/phonemic aphasia (LPA), which is not represented in FTLD. This is primarily because LPA is usually caused by Alzheimer's disease (AD) and the brunt of the lesion is localized at the left temporo-parietal region of the brain. Further, PNFA/SD should be limited to the clinical consequencies of FTLD while PPA is more generous with regard to its causal pathology. By definition, PNFA is an expressive language impairment which is characterized by effortful speech, phonemic errors, grammatical impairment, and word-finding difficulties. Reading and writing may be comparatively impaired. Comprehension of single word meaning is normal, while comprehension of sentencies may sometimes be impaired. PNFA should be differentiated from SD, LPA, and pure progressive apraxia of speech (AOS or alternatively referred to as aphemia or anarthria). SD may be distinguished from PNFA by virtue of its fluency, characteristic loss of word meaning and absence of agrammatism. LPA is similar to PNFA, yet differs in that there is preservation of grammatical skills and speech motor function that is devoid of AOS and/or dysarthria. AOS is an impairment at the level of speech motor programming without language impairment. Thus, there may be a double dissociation between AOS and PNFA i. e., PNFA may or may not accompany AOS and vice versa. PNFA is associated with a localized lesion in the left frontotemporal area of the brain. Immunohistochemical investigations have revealed that ubiquitin/TAR DNA binding protein-43 (TDA-43) positive and tau

  18. Achalasia: a review of clinical diagnosis, epidemiology, treatment and outcomes.

    Science.gov (United States)

    O'Neill, Orla M; Johnston, Brian T; Coleman, Helen G

    2013-09-21

    Achalasia is a neurodegenerative motility disorder of the oesophagus resulting in deranged oesophageal peristalsis and loss of lower oesophageal sphincter function. Historically, annual achalasia incidence rates were believed to be low, approximately 0.5-1.2 per 100000. More recent reports suggest that annual incidence rates have risen to 1.6 per 100000 in some populations. The aetiology of achalasia is still unclear but is likely to be multi-factorial. Suggested causes include environmental or viral exposures resulting in inflammation of the oesophageal myenteric plexus, which elicits an autoimmune response. Risk of achalasia may be elevated in a sub-group of genetically susceptible people. Improvement in the diagnosis of achalasia, through the introduction of high resolution manometry with pressure topography plotting, has resulted in the development of a novel classification system for achalasia. This classification system can evaluate patient prognosis and predict responsiveness to treatment. There is currently much debate over whether pneumatic dilatation is a superior method compared to the Heller's myotomy procedure in the treatment of achalasia. A recent comparative study found equal efficacy, suggesting that patient preference and local expertise should guide the choice. Although achalasia is a relatively rare condition, it carries a risk of complications, including aspiration pneumonia and oesophageal cancer. The risk of both squamous cell carcinoma and adenocarcinoma of the oesophagus is believed to be significantly increased in patients with achalasia, however the absolute excess risk is small. Therefore, it is currently unknown whether a surveillance programme in achalasia patients would be effective or cost-effective.

  19. Common recurrent microduplication syndromes: diagnosis and management in clinical practice.

    Science.gov (United States)

    Berg, Jonathan S; Potocki, Lorraine; Bacino, Carlos A

    2010-05-01

    Details on the phenotypic consequences of genomic microdeletions and microduplications are rapidly emerging in the wake of increased utilization of high-resolution methods for the detection of genomic copy number variants (CNVs). Due to their recent discovery, the complete phenotypic characterization of these syndromes is still in progress. For practicing clinicians, this unprecedented molecular diagnostic capability has in many cases outpaced our ability to convey conclusive information regarding these conditions to patients and family members. In particular, genomic microduplication syndromes are frequently associated with variable phenotypes and incomplete penetrance, leading to difficulty in counseling regarding the potential future consequences of a given microduplication. In this review, we have attempted to provide an initial set of recommendations for the management of patients with recurrent microduplication syndromes. We summarize the clinical information for microduplications of 14 different genomic regions and provide a framework for clinical evaluation and anticipatory guidance in these conditions. It is our expectation that these preliminary guidelines will be revised further for each microduplication syndrome as more information becomes available.

  20. [Clinical diagnosis and standardized evaluation of borderline personality: preliminary report].

    Science.gov (United States)

    Chaine, F; Guelfi, J D; Monier, C; Brun, A; Seunevel, F

    1995-01-01

    A sample of 36 patients considered by French clinicians as suffering from a borderline personality disorder was evaluated using the International Personality Disorder Examination, the Diagnostic Interview for Borderline-Revised, and the Minnesota Multiphasic Personality Inventory. First, global descriptive analysis of the sample elicited the socio-demographic and standard clinical characteristics of the borderline individuals. After diagnostic evaluation, the sample appeared to be quite homogeneous with 25 of the 36 patients evaluated (69.5%) being defined as borderline by two of the three diagnostic systems: ICD 10, DSM III-R and Gunderson (15/36 = 41.5% of patients were defined as borderline by all three systems). It is the types of BL personality co-diagnoses which differentiated the BL subjects in the sample from those classically described in the international literature, since the most frequent personalities were the Dependent and Avoiding ones, not the Antisocial, Histrionic, Narcissistic or Schizotypic personalities of the DSM III-R. ICD 10 elicited the same significant prevalence of Anxious and Dependent personalities. Lastly, the patients diagnosed as borderline both by clinicians and by all diagnostic systems (forming the sample "core") were compared with the rest of the sample with regard to socio-demographic, clinical and diagnostic characteristics. A few hypotheses are proposed on the type of variables that may permit to discriminate between these two types of patients.

  1. Explore the Possibility of Early Clinical Diagnosis of Endocrine Ophthalmopathy Based on Eye Symptoms of Hyperthyroidism

    Directory of Open Access Journals (Sweden)

    V. G. Likhvantseva

    2016-01-01

    ,7% vs. 7,5% and 15,0%, respectively, p<0,001. It had the highest sensitivity and symptoms of Mobius’, Zenger’ (reached 83.5% and 66.2%, respectively. It proved to be less sensitive symptom Dalrymple’ (61.9% and a combination of these symptoms. The highest specificity (98.1% showed a combination of three symptoms were less specific symptoms tandem Zenger’ and Mobius’ (93.8% and the tandem symptom Dalrymple’ with Zenger’ symptoms (92.5%. In other words, identifying a patient at thesame time the three symptoms: Mobius’, Dalrymple’ and Senger’, or both symptoms and Senger’, Mobius’ allows to clinically diagnose with a high probability his endocrine ophthalmopathy, and conversely, a negative result of the test eliminates the desired highly specific disease. Conclusion: The presented results of statistical studies reveal the possibility of early clinical diagnosis of subclinical forms of endocrine ophthalmopathy based on monosymptom thyrotoxicosis Mobius’ and Zenger’, their tandem, as well as combinations of the symptoms of Mobius’, Zenger’ and Dalrymple’.

  2. Effectiveness of MRI for the diagnosis and clinical significance of empty sella

    Energy Technology Data Exchange (ETDEWEB)

    Inagaki, Takayuki; Yamanouchi, Yasuo; Takahara, Nobuhiko; Matsumura, Hiroshi; Katoh, Tsutomu; Sawada, Satoshi; Tanaka, Takamasa

    1989-02-01

    There have been many reported cases of empty sella since the report by Busch. It has been said that, conventionally, the diagnosis of empty sella has been made from the morphological changes of the sella turcica on plain skull film and pneumoencephalograms; however, more precise and non-invasive examination such as high resolution CT or metrizamide CT cisternography (MCTC) has been established since the introduction of CT scanner. MRI is considered to be an effective diagnostic method for this disease because three dimensional presentation of the anatomical structure is obtainable with this without bone artifact. Here we presented 6 male and 10 female cases of primary empty sella from 1986 to 1987 which were confirmed by MRI and discussed the effectiveness of MRI. According to Kaufman, the incidence of empty sella is not so low and it can be found even in normal state. Some says that empty sella is a mere anatomical variation. With the development of diagnostic systems such as CT or MRI, the number of the cases of empty sella is increasing which is found on an eventual MRI, regardless of the presence of symptoms. From our results of MRI that there were only few cases in which empty sella was responsible for the manifestation of clinical symptoms, it might be said that most of the cases of primary empty sella can be included in normal variation having no clinical meanings.

  3. Clinical use of a portable dual microscope system for smartphone (Conference Presentation)

    Science.gov (United States)

    Kurachi, Cristina; Brognara, Gabriel; Gómez-García, Pablo A.; Carbinatto, Fernanda; Silva, Eduardo V.; Lombardi, Wellington; Inada, Natália M.; Bagnato, Vanderlei S.

    2016-03-01

    Cervical cancer is still one of the most relevant women cancer types, since the 5-year survival rate is of only around 68%. Prevention and early diagnosis are the best strategies to improve cervical cancer prognosis. Conventional diagnosis procedure in Gynecology is mainly based on the macroscopic clinical evaluation, Pap smear cytology, and biopsy, if needed. A portable microscope with dual configuration and its use for diagnosis in Gynecology is investigated. The microscope has interchangeable parts that allow its use for cytopathology smear samples or in situ endoscopic tissue interrogation, both using acriflavine as a nuclei marker. Patients of the Women Ambulatory of the School of Medicine (UNIARA, Araraquara, Brazil) were interrogated during the colposcopy examination. The cervix was initially cleaned using an acetic acid solution, and a 0.05% (wt/vol) acriflavine in saline solution was topically applied at the tissue surface using a cotton swab. Microendoscopy images were taken from clinically normal cervix mucosa and from detected lesions. An image processing is performed to evaluate the cell nuclei morphology and the cytoplasm/nuclei ratio. The Pap smear results and the histology analyses are taken as gold standard for the diagnosis. Preliminary results in 5 patients demonstrated the potential use of our microscope at the clinical setting.

  4. [Vertebrogenic chest pain--"pseudoangina pectoris": etiopathogenesis, clinical manifestations, diagnosis, differential diagnosis and therapy].

    Science.gov (United States)

    Grgić, Vjekoslav

    2007-01-01

    Vertebrogenic pain localised in the anterior thorax can imitate anginal pain ("pseudoangina pectoris"). The most common causes of vertebrogenic chest pain are segmental dysfunction and degenerative changes at the level of the lower cervical and upper middle thoracic spine. Segmental dysfunction is a source of pseudoradicular pain, and degenerative changes, before all disc hernia and dorsal osteophytes which are compressing corresponding nerve roots, are the sources of radicular pain which irradiates in the chest. Because of its similarity with angina pectoris, the intense chest pain caused by the cervical radiculopathy which is often followed by heart rhythm disorders and nonspecific changes of the ST-T-segment in ECG, is called "cervicogenic angina". The attacks of vertebrogenic chest pain are not rare even in patients with angina pectoris. Because of superimposed vertebrogenic pain, the manifestation of pain in patients with angina pectoris can be considerably changed which can be misinterpreted as unstable angina. From therapeutic aspect it is very important to distinguish vertebrogenic from anginal pain. That is, the change of cardiological therapy will not eliminate possible attacks of vertebrogenic pain in patients with angina pectoris. From the aspect of most recent understandings, the article describes etiopathogenesis, characteristics, diagnosis and therapy of vertebrogenic chest pain, and also the differences between vertebrogenic and anginal pain.

  5. Early diagnosis of primary Sjögren's syndrome: EULAR-SS task force clinical recommendations.

    Science.gov (United States)

    Brito-Zerón, Pilar; Theander, Elke; Baldini, Chiara; Seror, Raphaèle; Retamozo, Soledad; Quartuccio, Luca; Bootsma, Hendrika; Bowman, Simon J; Dörner, Thomas; Gottenberg, Jacques-Eric; Mariette, Xavier; Bombardieri, Stefano; de Vita, Salvatore; Mandl, Thomas; Ng, Wan-Fai; Kruize, Aike A; Tzioufas, Athanasios; Vitali, Claudio; Buyon, Jill; Izmirly, Peter; Fox, Robert; Ramos-Casals, Manuel

    2016-01-01

    Sjögren's syndrome (SjS) is a systemic autoimmune disease that mainly affects the exocrine glands, leading to generalized mucosal dryness. However, primary SjS may initially present with non-sicca (systemic) manifestations. When these features appear before the onset of an overt sicca syndrome, we may talk of an underlying 'occult' SjS. The European League Against Rheumatism (EULAR) has promoted and supported an international collaborative study group (EULAR-SS Task Force) aimed at developing consensual recommendations to provide a homogeneous approach to the patient with primary SjS presenting with systemic involvement. This review summarizes the key factors that should be taken into account in the diagnostic approach in a patient with suspected SjS according to the main clinical patterns of presentation, and is especially focused on organ-specific systemic disease presentations, including a consensus set of recommendations in order to reach an early diagnosis. Close collaboration with the different specialties involved through a comprehensive multidisciplinary approach is essential in SjS patients presenting with systemic involvements.

  6. Clinical diagnosis and surgical treatment of pancreatic and/or duodenal injuries

    Institute of Scientific and Technical Information of China (English)

    Zekuan Xu; Leyao Lian; Yi Miao; Xunliang Liu

    2005-01-01

    Objective: To investigate the points of the clinical diagnosis and surgical treatment for pancreatic and/or duodenal injuries. Methods: Clinical data of 30 patients who suffered from pancreatic and/or duodenal injuries were reviewed. Results: There were 29 cases who received surgical management. Of the 30 cases, 22 cases were cured, seven cases died, and postoperative complications occurred in 16 cases. The cure rate was 73.3%. Conclusion: Pancreatic and/or duodenal injuries are severe abdominal injuries and difficult to treat. The mortality and complication rate are high. The keys to successful treatments for pancreatic and/or duodenal injuries are early diagnosis, careful exploration and proper operational management.

  7. Personalized Clinical Diagnosis in Data Bases for Treatment Support in Phthisiology.

    Science.gov (United States)

    Lugovkina, T K; Skornyakov, S N; Golubev, D N; Egorov, E A; Medvinsky, I D

    2016-01-01

    The decision-making is a key event in the clinical practice. The program products with clinical decision support models in electronic data-base as well as with fixed decision moments of the real clinical practice and treatment results are very actual instruments for improving phthisiological practice and may be useful in the severe cases caused by the resistant strains of Mycobacterium tuberculosis. The methodology for gathering and structuring of useful information (critical clinical signals for decisions) is described. Additional coding of clinical diagnosis characteristics was implemented for numeric reflection of the personal situations. The created methodology for systematization and coding Clinical Events allowed to improve the clinical decision models for better clinical results.

  8. Anemia in inflammatory bowel disease: prevalence, differential diagnosis and association with clinical and laboratory variables

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    Rodrigo Andrade Alves

    Full Text Available CONTEXT AND OBJECTIVES:Anemia is the most frequent extraintestinal complication of inflammatory bowel disease. This study aimed to: 1 determine the prevalence of anemia among patients with inflammatory bowel disease; 2 investigate whether routine laboratory markers are useful for diagnosing anemia; and 3 evaluate whether any association exists between anemia and clinical/laboratory variables.DESIGN AND SETTING:Cross-sectional at a federal university.METHODS:44 outpatients with Crohn's disease and 55 with ulcerative colitis were evaluated. Clinical variables (disease activity index, location of disease and pharmacological treatment and laboratory variables (blood count, iron laboratory, vitamin B12 and folic acid were investigated.RESULTS:Anemia and/or iron laboratory disorders were present in 75% of the patients with Crohn's disease and in 78.2% with ulcerative colitis. Anemia was observed in 20.5% of the patients with Crohn's disease and in 23.6% with ulcerative colitis. Iron-deficiency anemia was highly prevalent in patients with Crohn's disease (69.6% and ulcerative colitis (76.7%. Anemia of chronic disease in combination with iron deficiency anemia was present in 3% of the patients with Crohn's disease and in 7% of the patients with ulcerative colitis. There was no association between anemia and disease location. In ulcerative colitis, anemia was associated with the disease activity index.CONCLUSIONS:Most patients present iron laboratory disorders, with or without anemia, mainly due to iron deficiency. The differential diagnosis between the two most prevalent types of anemia was made based on clinical data and routine laboratory tests. In ulcerative colitis, anemia was associated with the disease activity index.

  9. Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

    Science.gov (United States)

    Ferrero, Giovanni Battista; Biamino, Elisa; Sorasio, Lorena; Banaudi, Elena; Peruzzi, Licia; Forzano, Serena; di Cantogno, Ludovica Verdun; Silengo, Margherita Cirillo

    2007-01-01

    Williams-Beuren syndrome (WS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500-1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. We investigated 22 WS patients (mean age of 9.7 years, range 1 day to 39 years) with a multi-specialist follow-up protocol comprehensive of neuropsychological, cardiologic, nephrologic, ophthalmologic, endocrinologic, gastroenterologic, odontostomatologic and orthopaedic evaluations. The mean age at diagnosis was 5.38 years, being 1.02 years when genetic evaluation was requested for congenital heart defects (CHD) and 10.68 years in case of mental retardation and/or abnormal neuropsychological profile without an evident CHD. All patients showed facial dysmorphisms, with supravalvular aortic stenosis (SVAS) as the most common cardiovascular anomaly (12/22), followed by peripheral pulmonary stenosis (9/22); interestingly, in one patient we detected a total anomalous pulmonary venous return (TAPVR), confirming the possible association of this rare CHD with WS. Hypertension was detected by 24-h ambulatory blood pressure monitoring in 7/22 cases. A cognitive assessment was performed in 13 patients older than 6 years, showing various degrees of mental retardation in 12 and a normal intelligence quotient (IQ) in a single patient; evaluation of developmental milestones revealed various grades of developmental delay in all the patients younger than 6 years. Chiari malformation type 1 was found in 3 patients. Our study underlines a remarkable diagnostic delay in patients who present to genetic evaluation because of mental retardation and/or peculiar neuropsychological profile lacking an evident cardiopathy and confirms the multi-systemic nature of WS leading to a high clinical presentation's variability and complex follow-up strategies.

  10. Isolated Cataplexy in the Differential Diagnosis of Drop Attacks: A Case of Successful Clinical Diagnosis and Treatment

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    Robert T. Egel

    2012-01-01

    Full Text Available Drop attacks are sudden spontaneous falls that are not accompanied by alteration of consciousness and are followed by immediate recovery. Cataplexy, which is usually associated with narcolepsy, is one of the causes of drop attacks. We report a patient with the rare condition of cataplexy without associated narcolepsy (isolated cataplexy. Isolated cataplexy should be included in the differential diagnosis when a patient presents with recurrent drop attacks and normal diagnostic test results.

  11. Clinical diagnosis analysis in 21 cases of spinal cord disease

    Institute of Scientific and Technical Information of China (English)

    ZHANG Hong

    2000-01-01

    21 cases of spinal cord disease were clinically analyzed of which 14 cases were male. 7 female, aged from 30 to 69, weraged 50.9. This group contained 2 cases of consciusness dysfunction. 2l of sensational dysfunction. 19 of morion dysrunction, 11 of aotonomic nerve dysrunction, 2 of, sexual dysfunction. 2 of Brown-Sequrd syndrome. llhad been chrmcally sympromatic for more than two months. the other were of acute for sub acute onset. The segments of the diseases were found mainly at cervical and thoracic ones. to which more attention should be pazd clincally. The incidences of intramedullary lesions were a bit more than that of extramedullary ones. Of the 11 extramendullary cases, 8 arised srorn verteoral body (72.7%), of which 6 cases arisen form the intervertebral dies, or 75%. On which emphasis should be laid clinically Foci in brain and spinal cord were found synchronically in 5 cases (23.8%). They were Wernick cerebral disease, metastetic cerebral tumor, cerebral infarction, polioencephalomyelitis. So possibility of brain disease should also be considerod when diagnosing spinai cord disease, especially in stenosis of cervical canal. Oppressed spinal cord was accodiated with cerebellopontine angle tumor. Disease in brain was negiected because of concermng spinal cord disease and cerehellopontine angie giant meningiona was discovered 5 yeas laaer. There are several methods to diagnose spinal cord disease, including X-rays photography, CSF test, CT, and MRI, etc. X-rays photography should be used for involved vertebral body in lateral and P-A position at first when to suspect spinal cord disease. It should be avoided that neglecting X-rays photography and using CT or MRIfirst. It should be noted when taking segments examination by CT or MRI, thut the actual vertebral body is usually located 7'- 14 segments below the spinal cord involved. Otherwise, misdiagnosis would be resulted. 4 c ases of oppressive spinal cord disease of this group were treated with operating

  12. DIAGNOSIS AND TREATMENT OF METACHRONOUS TESTICULAR CANCER: A CLINICAL CASE

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    A. S. Kalpinsky

    2013-01-01

    Full Text Available The incidence of bilateral testicular cancer is 5% in the total cohort of patients. Synchronous and metachronous testicular cancers are detected in 1-2 and 3% of cases, respectively. The standard treatment for testicular cancer is orchifuniculectomy and that for synchronous or metachronous cancer is organ-saving treatment, testectomy.The paper describes a clinical case of multiple primary metachronous testicular cancer. A 24-year-old patient underwent surgery (orchifuniculectomy and received 4 courses of BEP polychemotherapy for embryonal carcinoma of the left testicle at the P.A. Herzen Moscow Oncology Research Institute. After 55 months, a dynamic control examination diagnosed a 9-mm tumor in his single right testis that was thereafter resected. Its histological examination revealed embryonal carcinoma with solitary structures in the immature teratoma. Following 22 months, a control examination showed a recurrence of the disease, for which orchifuniculectomy of the single right testis, followed by hormone replacement therapy, was performed. The follow-up period was 80 months; no recurrence is now observed.

  13. Nonspecific low back pain: Causes, clinical picture, diagnosis, and treatment

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    A. I. Isaikin

    2015-01-01

    Full Text Available In the current biopsychosocial model of back pain, there are biological (anatomic sources of pain, psychological and social components that promote its occurrence and maintenance. Nonspecific (musculoskeletal, mechanical pain that is diagnosed, with a serious disease and radicular symptoms being ruled out, is encountered most commonly (in 85% of cases in clinical practice. A group of patients with nonspecific back pain is very heterogeneous and needs differential treatment. The most common sources of back pain are abnormally changed discs, facet and sacroiliac joints, and muscles; however, it is often difficult to determine the main source of pain. International guidelines for the management of acute and chronic back pain have been elaborated, which assign an important role to the clarification of the benign pattern of pain to patients; their training; and recommendations for the maintenance of day-to-day activity. Medical treatment involves both nonselective and selective nonsteroidal anti-inflammatory drugs and myorelaxants as the drugs of choice. Non-drug treatments are actively used; these are manual therapy for acute pain, cognitive behavioral therapy, manual therapy, therapeutic exercises, reflex therapy, and yoga exercises for subacute and chronic pain. Whether blockades, ablations, minimally invasive neurosurgery, which are aimed at eliminating the main source of pain, is discussed if the treatment is ineffective.

  14. Clinical presentation of T.b. rhodesiense sleeping sickness in second stage patients from Tanzania and Uganda.

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    Irene Kuepfer

    Full Text Available BACKGROUND: A wide spectrum of disease severity has been described for Human African Trypanosomiasis (HAT due to Trypanosoma brucei rhodesiense (T.b. rhodesiense, ranging from chronic disease patterns in southern countries of East Africa to an increase in virulence towards the north. However, only limited data on the clinical presentation of T.b. rhodesiense HAT is available. From 2006-2009 we conducted the first clinical trial program (Impamel III in T.b. rhodesiense endemic areas of Tanzania and Uganda in accordance with international standards (ICH-GCP. The primary and secondary outcome measures were safety and efficacy of an abridged melarsoprol schedule for treatment of second stage disease. Based on diagnostic findings and clinical examinations at baseline we describe the clinical presentation of T.b. rhodesiense HAT in second stage patients from two distinct geographical settings in East Africa. METHODOLOGY/PRINCIPAL FINDINGS: 138 second stage patients from Tanzania and Uganda were enrolled. Blood samples were collected for diagnosis and molecular identification of the infective trypanosomes, and T.b. rhodesiense infection was confirmed in all trial subjects. Significant differences in diagnostic parameters and clinical signs and symptoms were observed: the median white blood cell (WBC count in the cerebrospinal fluid (CSF was significantly higher in Tanzania (134 cells/mm(3 than in Uganda (20 cells/mm(3; p<0.0001. Unspecific signs of infection were more commonly seen in Uganda, whereas neurological signs and symptoms specific for HAT dominated the clinical presentation of the disease in Tanzania. Co-infections with malaria and HIV did not influence the clinical presentation nor treatment outcomes in the Tanzanian study population. CONCLUSIONS/SIGNIFICANCE: We describe a different clinical presentation of second stage T.b. rhodesiense HAT in two distinct geographical settings in East Africa. In the ongoing absence of sensitive diagnostic

  15. Rapid molecular diagnosis of tuberculosis and other mycobacteriosis in smear-negative clinical specimens

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    S. R.A. Leite

    2009-01-01

    Full Text Available

    Delay in diagnosis of pulmonary and other forms of tuberculosis (TB can be fatal, particularly in HIV-infected patients. Hence, techniques based on nucleic acid amplification, which are both rapid and of high specificity and sensitivity, are now widely used and recommended for laboratories that diagnose TB. In the present study, diagnostic methods based on mycobacterial DNA amplification were evaluated in comparative trials alongside tradicional bacterial methods, using negative smear samples from patients with clinically-suspected TB (sputum samples from 25 patients with suspected pulmonary TB, urine samples from two patients with suspected renal TB and cerebrospinal fluid samples from one patient with suspected meningeal TB. A specificity of 100% was achieved with DNA amplification methods and tradicional culture/identification methods, in relation to clinical findings and treatment results. For the smear-negative sputa, conventional PCR for M. tuberculosis was positive in 62% of suspected lung TB case, showing the same sensitivity as bacterial identification. Both techniques failed in the detection of extra-pulmonary samples. Nested PCR showed, after species-specific amplification, a sensitivity of 100% for M. avium and 85% for M. tuberculosis. For extra-pulmonary smear-negative samples, only Nested PCR detected M. tuberculosis and all cases were confirmed clinically. Nested PCR, in which two-step amplification reactions are performed, can identify the two most important mycobacteria in human pathology quickly and directly from clinical spicimens. Keywords: tuberculosis; M. avium; Nested PCR; Smearnegative specimens

  16. Acquired hepatocerebral degeneration and hepatic encephalopathy: correlations and variety of clinical presentations in overt and subclinical liver disease

    Directory of Open Access Journals (Sweden)

    Fernando G. Romeiro

    2011-06-01

    Full Text Available Acquired hepatocerebral degeneration (AHD and hepatolenticular degeneration can have similar clinical presentations, but when a chronic liver disease and atypical motor findings coexist, the distinction between AHD and hepatic encephalopathy (HE can be even more complicated. We describe three cases of AHD (two having HE with different neuroimaging findings, distinct hepatic diseases and similar motor presentations, all presenting chronic arterial hypertension and weight loss before the disease manifestations. The diagnosis and physiopathology are commented upon and compared with previous reports. In conclusion, there are many correlations among HE, hepatolenticular degeneration and AHD, but the overlapping of AHD and HE could be more common depending on the clinical knowledge and diagnostic criteria adopted for each condition. Since AHD is not considered a priority that affects the liver transplant list, the prognosis in AHD patients remains poor, and flow interruption in portosystemic shunts must always be taken into account.

  17. The Romano-Ward syndrome: a case presenting as near drowning with a clinical review.

    Science.gov (United States)

    Harris, E M; Knapp, J F; Sharma, V

    1992-10-01

    Patients with the Romano-Ward syndrome, a form of congenital long Q-T syndrome (LQTS), present with syncopal episodes and are at risk for sudden death. Patients with LQTS may be misdiagnosed if the physician is unaware of this entity. The risk of sudden death makes recognition important so that appropriate therapy can be initiated. A case is discussed in which the patient presented following a near-drowning episode. Family history revealed a familial "seizure disorder." After analysis of the patient's and father's ECGs, the diagnosis of Romano-Ward syndrome was made. A review of the literature was done, concentrating on presentation, pathophysiology, electrocardiographic findings, etiology, diagnosis, prognosis, and treatment of congenital LQTS. This paper is presented to emphasize the importance of physician awareness of LQTS because of the risk of sudden death. Proper diagnosis can lead to treatment that is effective in reducing mortality by more than 90%.

  18. Towards the routine use of brain imaging to aid the clinical diagnosis of disorders of consciousness.

    Science.gov (United States)

    Coleman, M R; Davis, M H; Rodd, J M; Robson, T; Ali, A; Owen, A M; Pickard, J D

    2009-09-01

    Clinical audits have highlighted the many challenges and dilemmas faced by clinicians assessing persons with disorders of consciousness (vegetative state and minimally conscious state). The diagnostic decision-making process is highly subjective, dependent upon the skills of the examiner and invariably dictated by the patients' ability to move or speak. Whilst a considerable amount has been learnt since Jennett and Plum coined the term 'vegetative state', the assessment process remains largely unchanged; conducted at the bedside, using behavioural assessment tools, which are susceptible to environmental and physiological factors. This has created a situation where the rate of misdiagnosis is unacceptably high (up to 43%). In order to address these problems, various functional brain imaging paradigms, which do not rely upon the patient's ability to move or speak, have been proposed as a source of additional information to inform the diagnostic decision making process. Although accumulated evidence from brain imaging, particularly functional magnetic resonance imaging (fMRI), has been encouraging, the empirical evidence is still based on relatively small numbers of patients. It remains unclear whether brain imaging is capable of informing the diagnosis beyond the behavioural assessment and whether brain imaging has any prognostic utility. In this study, we describe the functional brain imaging findings from a group of 41 patients with disorders of consciousness, who undertook a hierarchical speech processing task. We found, contrary to the clinical impression of a specialist team using behavioural assessment tools, that two patients referred to the study with a diagnosis of vegetative state did in fact demonstrate neural correlates of speech comprehension when assessed using functional brain imaging. These fMRI findings were found to have no association with the patient's behavioural presentation at the time of investigation and thus provided additional diagnostic

  19. Improvement of a Clinical Score for Necrotizing Fasciitis: 'Pain Out of Proportion' and High CRP Levels Aid the Diagnosis.

    Science.gov (United States)

    Borschitz, Thomas; Schlicht, Svenja; Siegel, Ekkehard; Hanke, Eric; von Stebut, Esther

    2015-01-01

    Necrotizing fasciitis (NF) is a rare mono-/polymicrobial skin infection that spreads to underlying tissues. NF is quickly progressing and leads to life threatening situations. Immediate surgical debridement together with i.v. antibiotic administration is required to avoid fatal outcome. Early diagnosis is often delayed due to underestimation or confusion with cellulitis. We now compared the initial clinical and laboratory presentation of NF and cellulitis in detail to assess if a typical pattern can be identified that aids timely diagnosis of NF and avoidance of fatal outcome. 138 different clinical and laboratory features of 29 NF patients were compared to those of 59 age- and gender matched patients with severe erysipelas requiring a subsequent hospitalization time of ≥10 days. Differences in clinical presentation were not obvious; however, NF patients suffered significantly more often from strong pain. NF patients exhibited dramatically elevated CRP levels (5-fold, p>0.001). The overall laboratory risk indicator for necrotizing fasciitis (LRINEC) score was significantly higher in NF patients as compared to cellulitis. However, a modification of the score (alteration of laboratory parameters, addition of clinical parameters) led to a clear improvement of the score with a higher positive predictive value without losing specificity. In summary, clinical differentiation of NF from cellulitis appears to be hard. 'Pain out of proportion' may be an early sign for NF. An improvement of the LRINEC score emphasizing only relevant laboratory and clinical findings as suggested may aid the early diagnosis of NF in the future leading to improvement of disease outcome by enabling rapid adequate therapy.

  20. Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias

    OpenAIRE

    Adriana Moro; Renato Puppi Munhoz; Walter Oleschko Arruda; Salmo Raskin; Hélio Afonso Ghizoni Teive

    2013-01-01

    Objective To investigate the relevance of the clinical finding of bulging eyes (BE) in a large Brazilian cohort of spinocerebellar ataxias (SCA), to assess its importance in clinical differential diagnosis among SCA. Methods Three hundred sixty-nine patients from 168 Brazilian families with SCA were assessed with neurological examination and molecular genetic testing. BE was characterized by the presence of eyelid retraction. Genetically ascertained SCA3 was detected in 167 patients, SCA10 ...