WorldWideScience

Sample records for clinical presentation diagnosis

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

    Science.gov (United States)

    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.

  2. Bradyarrhythmias: Clinical Presentation, Diagnosis, and Management.

    Science.gov (United States)

    Wung, Shu-Fen

    2016-09-01

    Bradyarrhythmias are common clinical findings consisting of physiologic and pathologic conditions (sinus node dysfunction and atrioventricular [AV] conduction disturbances). Bradyarrhythmias can be benign, requiring no treatment; however, acute unstable bradycardia can lead to cardiac arrest. In patients with confirmed or suspected bradycardia, a thorough history and physical examination should include possible causes of sinoatrial node dysfunction or AV block. Management of bradycardia is based on the severity of symptoms, the underlying causes, presence of potentially reversible causes, presence of adverse signs, and risk of progression to asystole. Pharmacologic therapy and/or pacing are used to manage unstable or symptomatic bradyarrhythmias. PMID:27484658

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

    Science.gov (United States)

    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.

  4. 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.

  5. Review of Clinical Presentation and Diagnosis of Mucopolysaccharidosis IVA

    OpenAIRE

    Hendriksz, C.J.; Harmatz, P.; M. Beck; 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 reflec...

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

  8. 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.

  9. INFECTIVE ENDOCARDITIS IN A RHEUMATOLOGIST’S PRACTICE: ISSUES OF ITS CLINICAL PRESENTATION AND DIAGNOSIS

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    B. S. Belov

    2015-01-01

    Full Text Available At present, the problem of infective endocarditis (IE remains relevant for clinicians of different specialties, including rheumatologists. The distinctive feature of present-day IE is its polyetiological pattern due to a broad spectrum of pathogens. The lecture highlights in detail clinical picture of the disease, laboratory and instrumental findings. It presents current international diagnostic criteria for IE. The obvious clinical polymorphism, subtle symptoms, and monosyndromic onset as masks, all increases the significance of differential diagnosis of IE, in early disease stages in particular. Main approaches to differentiating IE from diseases posing the greatest differentially diagnostic challenges are set forth.

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

    Science.gov (United States)

    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.

  11. Multiple sclerosis presented as clinically isolated syndrome: the need for early diagnosis and treatment

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    Sigliti-Henrietta Pelidou

    2008-06-01

    Full Text Available Sigliti-Henrietta Pelidou, Sotirios Giannopoulos, Sotiria Tzavidi, Georgios Lagos, Athanassios P KyritsisDepartment of Neurology, University of Ioannina School of Medicine, GreeceObjective: To aid in the timely diagnosis of patients who present with clinically isolated syndrome (CIS.Patients and methods: We studied 25 patients (18 women, 7 men, originally presented in our clinic with a CIS suggestive of multiple sclerosis (MS. All patients underwent the full investigation procedure including routine tests, serology, cerebrospinal fluid (CSF examinations, evoked potentials (EPs, and magnetic resonance imaging (MRI of brain and cervical spinal cord. Patients were imaged at baseline, and every three months thereafter up to a year.Results: The CIS was consisted of optic neuritis in 12 cases, incomplete transverse myelitis (ITM in 7 cases, Lhermitte sign in 2 cases, internuclear ophthalmoplegia (INO in 2 cases, mild brainstem syndrome in 1 case, and tonic-clonic seizures in 1 case. Using the baseline and three-month scans 18/25 (72% patients developed definite MS in one year of follow up while 7 (28% had no further findings during this observation period. Immunomodulatory treatments were applied to all definite MS patients.Conclusion: In light of new treatments available, MRIs at 3 month intervals are helpful to obtain the definite diagnosis of MS as early as possible.Keywords: multiple sclerosis, clinically isolated syndrome, optic neuritis, transverse myelitis

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

    Science.gov (United States)

    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. PMID:26120146

  13. Oral lichen planus: An update on etiology, pathogenesis, clinical presentation, diagnosis and management

    Directory of Open Access Journals (Sweden)

    Sonia Gupta

    2015-01-01

    Full Text Available 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. 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

  15. Late presentation of hyperandrogenism in pregnancy: clinical features and differential diagnosis

    OpenAIRE

    Das, Gautam; Eligar, Vinay S; Govindan, Jyothish; Rees, D. Aled

    2013-01-01

    Summary Background Hyperandrogenic states in pregnancy are rare but arise most commonly due to new-onset ovarian pathology in pregnancy. We describe the case of a young woman who presented in the latter half of her pregnancy with features of hyperandrogenism. We review the biochemical and imaging findings and discuss the differential diagnosis. Case presentation A 26-year-old woman presented in the later part of her pregnancy with widespread hirsutism. Biochemical testing confirmed hyperandro...

  16. Ischemic Posterior Circulation Stroke: A Review of Anatomy, Clinical Presentations, Diagnosis and Current Management

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    Amre eNouh

    2014-04-01

    Full Text Available Posterior circulation (PC strokes represent approximately 20% of all ischemic strokes. In contrast to the anterior circulation (AC several differences in presenting symptoms, clinical evaluation, diagnostic testing and management strategy exist which may present a challenge to the treating physician. This review will discuss the anatomical, etiological and clinical classification of PC strokes, identify diagnostic pitfalls and overview current therapeutic regimens.

  17. Melioidosis in animals: a review on epizootiology, diagnosis and clinical presentation.

    Science.gov (United States)

    Sprague, L D; Neubauer, H

    2004-09-01

    Melioidosis, an infectious disease caused by Burkholderia pseudomallei is an emerging disease with high impact on animals and man. In different animal species, the clinical course varies and delayed diagnosis poses risks for the dissemination of the agent in non-endemic areas. Not only migration and transport of animals around the world but also tourism increases the risk that melioidosis can leave its endemic boundaries and establish itself elsewhere. Detection of the agent is a major challenge, as the agent has to be handled in laboratories of biosafety level 3 and test kits are not yet commercially available. Veterinarians and doctors should be aware of melioidosis not only as an agent of public interest but also in terms of a bioterrorist attack. The aim of this review is to describe the agent, its aetiology, the manifestation in a variety of animal species as well as to describe diagnostic procedures, typing techniques and countermeasures. PMID:15525357

  18. [Pathophysiology, epidemiology, clinical presentation, diagnosis and treatment options for autosomal dominant polycystic kidney disease].

    Science.gov (United States)

    Noël, Natacha; Rieu, Philippe

    2015-07-01

    Autosomal dominant polycystic kidney disease (ADPKD) is the leading genetic cause of end-stage renal disease (ESRD) worldwide. Its prevalence is evaluated according to studies and population between 1/1000 and 1/4000 live births and it accounts for 6 to 8% of incident ESRD patients in developed countries. ADPKD is characterized by numerous cysts in both kidneys and various extrarenal manifestations that are detailed in this review. Clinico-radiological and genetic diagnosis are also discussed. Mutations in the PKD1 and PKD2 codifying for polycystin-1 (PC-1) and polycystin-2 (PC-2) are responsible for the 85 and 15% of ADPKD cases, respectively. In primary cilia of normal kidney epithelial cells, PC-1 and PC-2 interact forming a complex involved in flow- and cilia-dependant signalling pathways where intracellular calcium and cAMP play a central role. Alteration of these multiple signal transduction pathways leads to cystogenesis accompanied by dysregulated planar cell polarity, excessive cell proliferation and fluid secretion, and pathogenic interactions of epithelial cells with an abnormal extracellular matrix. The mass effect of expanding cyst is responsible for the decline in glomerular filtration rate that occurs late in the course of the disease. For many decades, the treatment for ADPKD aims to lessen the condition's symptoms, limit kidney damage, and prevent complications. Recently, the development of promising specific treatment raises the hope to slow the growth of cysts and delay the disease. Treatment strategies targeting cAMP signalling such as vasopressin receptor antagonists or somatostatin analogs have been tested successfully in clinical trials with relative safety. Newer treatments supported by preclinical trials will become available in the next future. Recognizing early markers of renal progression (clinical, imaging, and genetic markers) to identify high-risk patients and multidrug approaches with synergistic effects may provide new opportunities

  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. Clinical presentation, diagnosis, therapy and outcome of alveolar echinococcosis in dogs.

    Science.gov (United States)

    Corsini, M; Geissbühler, U; Howard, J; Gottstein, B; Spreng, D; Frey, C F

    2015-12-01

    Alveolar echinococcosis (AE), a parasitic disease primarily of the liver caused by the larval stage of Echinococcus multilocularis, is highly endemic in Switzerland. In contrast to well-established management protocols in people, little is known with regard to optimal treatment strategies in dogs. The objective of this study was to describe the clinical signs and diagnostic procedures in dogs with AE and to evaluate outcome following medical treatment alone or surgery and medical treatment. Of 23 putative AE cases between 2004 and 2014, 20 were classified as confirmed (n=18) or probable (n=2) AE, based on abdominal ultrasound, serology, cytology, histology and/or PCR. Most dogs presented with abdominal distension in an advanced stage of disease. Dogs receiving specific treatment (radical or debulking surgery together with medical treatment, or medical treatment alone) survived longer than dogs left untreated, but no difference was found between treatment types. Survival at one year was associated with absence of free abdominal fluid, absence of abdominal distension and treatment of any type. However, dogs treated with debulking surgery all faced relapse. Findings of this study suggest that in AE-affected dogs for which a therapeutic approach is regarded appropriate by owners and veterinarians, radical surgical resection and medical treatment or, if total resection is not possible, medical treatment alone should be considered. However, studies on larger numbers of dogs are necessary before definitive treatment recommendations can be made. PMID:26537856

  1. 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

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

    Science.gov (United States)

    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. Postoperative infection with the automatic implantable cardioverter defibrillator: clinical presentation and use of the gallium scan in diagnosis

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    Kelly, P.A.; Wallace, S.; Tucker, B.; Hurvitz, R.J.; Ilvento, J.; Mirabel, G.S.; Cannom, D.S.

    1988-08-01

    This report describes three patients with infection involving an automatic implantable cardioverter defibrillator. All three patients presented with fever, fluid in the pulse generator pocket, leukocytosis and an elevated erythrocyte sedimentation rate. A gallium scan, together with aspiration and culture of the fluid from the pocket, confirmed the diagnosis in each case.

  5. 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.

  6. Leprosy neuropathy: clinical presentations.

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    Nascimento, Osvaldo J M

    2013-09-01

    Leprosy is a chronic infectious peripheral neuropathy caused by Mycobacterium leprae. The different clinical presentations of the disease are determined by the quality of the host immune response. Early detection of leprosy and treatment by multidrug therapy are the most important steps in preventing deformity and disability. Thus the early recognition of the clinical leprosy presentation is essential. Mononeuritis, mononeuritis multiplex (MM), polyneuritis (MM summation) are the most frequent. The frequent anesthetic skin lesions are absent in the pure neuritic leprosy presentation form. Isolated peripheral nerve involvement is common, including the cranial ones. Arthritic presentation is occasionally seen, usually misdiagnosed as rheumatoid arthritis. Attention should be given to autonomic dysfunctions in leprosy. There are clinical presentations with severe neuropathic pain - painful small-fiber neuropathy. Leprous late-onset neuropathy (LLON) clinical presentation should be considered facing a patient who develop an inflammatory neuropathy many years after a previous skin leprosy treatment. PMID:24141500

  7. [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.

  8. Cutaneous sporotrichosis: Unusual clinical presentations

    Directory of Open Access Journals (Sweden)

    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.

  9. 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.

  10. Meningitis, Clinical Presentation of Tetanus

    Directory of Open Access Journals (Sweden)

    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.

  11. 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

  12. Clinical presentation of cerebral aneurysms

    International Nuclear Information System (INIS)

    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

  13. 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.

  14. Clinical presentation of primary hypothyroidism

    International Nuclear Information System (INIS)

    Objective: To determine the clinical preparation of primary hypothyroidism at the time of diagnosis. Design: It was an observational and prospective study. Place and Duration of Study: Civil Hospital, Karachi from 1st January 1997 to 31st December 1997. Subjects and Methods: Forty-eight consecutive cases of primary hypothyroidism were included. A detailed history with special emphasis on symptoms and signs was conducted and the findings observed were noted in previously made proforma. Results: Primary hypothyroidism was found to be 5 times more common in female patients, with male to female ratio 1:5, majority of cases (33.33%) were between 41 to 50 years of age. The common symptoms at the time of presentation were tiredness (95.8%), weakness (91.6%), weight gain (85.4%), hoarseness of voice (83.3%), cold intolerance (77.0%) and constipation (75.0%) in patients. Physical signs observed were delayed relaxation of ankle jerk (93.7%), periorbital edema (83.3%), thick tongue (62.5%), goiter (50.0%), dry and coarse skin (47.9%) in patients. Serum, TSH, T4 and T3 were performed in all cases through immunoradiometric technique. Serum TSH was markedly elevated, with normal to reduced T4 and T3 levels in all cases. Conclusion: Primary hypothyroidism was found more common in female than male of the age group 41-50 years. Weakness, tiredness, hoarseness of voice and constipation were the common symptoms noted. The diagnosis is almost certain on clinical grounds if the patient happens to have delayed relaxation of ankle jerks and periorbital puffiness. (author)

  15. 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.

  16. 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

    Directory of Open Access Journals (Sweden)

    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

  17. Presentation, diagnosis and management of limbal stem cell deficiency

    Directory of Open Access Journals (Sweden)

    Kunjal Sejpal

    2013-01-01

    Full Text Available The human corneal surface epithelium is continuously repopulated by the limbal stem cells (LSCs. Limbal Stem Cell Deficiency (LSCD can lead to corneal opacity and vascularization, with consequent visual impairment or blindness. Many acquired and congenital diseases can lead to LCSD by direct injury to the LSCs, destruction of LSC niche, or both. Based on the severity of the disease, LSCD can present with various symptoms and signs. Although LSCD can be detected clinically, laboratory tests are necessary to confirm the diagnosis and monitor the disease progression. This article concisely reviews the clinical presentation, techniques for diagnosis and management of LSCD.

  18. 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

  19. 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.

  20. Urological diagnosis using clinical PACS

    Science.gov (United States)

    Mills, Stephen F.; Spetz, Kevin S.; Dwyer, Samuel J., III

    1995-05-01

    Urological diagnosis using fluoroscopy images has traditionally been performed using radiographic films. Images are generally acquired in conjunction with the application of a contrast agent, processed to create analog films, and inspected to ensure satisfactory image quality prior to being provided to a radiologist for reading. In the case of errors the entire process must be repeated. In addition, the radiologist must then often go to a particular reading room, possibly in a remote part of the healthcare facility, to read the images. The integration of digital fluoroscopy modalities with clinical PACS has the potential to significantly improve the urological diagnosis process by providing high-speed access to images at a variety of locations within a healthcare facility without costly film processing. The PACS additionally provides a cost-effective and reliable means of long-term storage and allows several medical users to simultaneously view the same images at different locations. The installation of a digital data interface between the existing clinically operational PACS at the University of Virginia Health Sciences Center and a digital urology fluoroscope is described. Preliminary user interviews that have been conducted to determine the clinical effectiveness of PACS workstations for urological diagnosis are discussed. The specific suitability of the workstation medium is discussed, as are overall advantages and disadvantages of the hardcopy and softcopy media in terms of efficiency, timeliness and cost. Throughput metrics and some specific parameters of gray-scale viewing stations and the expected system impacts resulting from the integration of a urology fluoroscope with PACS are also discussed.

  1. Autism: Clinical Features Diagnosis and Differential Diagnosis

    OpenAIRE

    Korkmaz, Barış

    1999-01-01

    Autism is a relatively frequent neurodevelopmental disorder of childhood with behavioral problems categorized in 3 domains These problems are related to social communication and relation verbal and non verbal communication and narrow fields of interest and restricted activity including repetitive behaviors e g stereotypies The diagnosis of autism before 3 years of age pose some difficulties for the clinicians; early indicators may be difficulties in eye contact inability to point and unrespon...

  2. Difficulties in clinical diagnosis of peripartum cardiomyopathy

    Directory of Open Access Journals (Sweden)

    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

  3. Angioedema: Clinical Presentations and Pharmacological Management.

    Science.gov (United States)

    Collins-Yoder, Angela Smith

    2016-01-01

    Angioedema (AE) is a unique clinical presentation of an unchecked release of bradykinin. The origin of this clinical presentation can be either genetic or acquired. The outcome within the patient is subcutaneous swelling of the lower layers of the epidermis. Symptoms are most often localized to the upper airway or the gastrointestinal tract. A typical course resolves in 5 to 7 days, but in some patients, the clinical manifestations exist up to 6 weeks. Hereditary AE is rare and genetically linked, and typically, the patient has episodes for many years before diagnosis. Episodes of acquired AE may be drug induced, triggered by a specific allergen, or idiopathic. Angioedema can elicit the need for critical care interventions, for advanced airway management, or unnecessary abdominal surgery. The treatment for these patients is evolving as new pharmacological agents are developed. This article addresses subtypes of AE, triggers, pharmacology, and information for interdisciplinary team planning of individualized case management. PMID:27258954

  4. Clinical diagnosis of hyposalivation in hospitalized patients

    Directory of Open Access Journals (Sweden)

    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.

  5. Kallmann's syndrome: clues to clinical diagnosis.

    Science.gov (United States)

    John, H; Schmid, C

    2000-04-01

    Hypogonadotropic patients may visit pediatricians, general practitioners, endocrinologists or urologists, presenting with microphallus, cryptochidism or pubertas tarda and delayed bone maturation. Congenital hypogonadotropic hypogonadism is characterized, apart from small testes, by the constellation of low serum levels of testosterone, LH and FSH. Kallman's syndrome is characterized by congenital hypogonadotropic hypogonadism with midline defects such as anosmia (a deficiency of the sense of smell). The first case report dates back to 1856, and genetic defects causing the syndrome have been recently described. The diagnosis can be clinically suspected and is established by confirming hormonal studies. PMID:11052640

  6. Clinical and Laboratory Diagnosis of Intestinal Tuberculosis

    Science.gov (United States)

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

    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 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. PMID:27231171

  7. Clinical and pathologic diagnosis and different diagnosis of syphilis cervical lymphadenitis

    OpenAIRE

    Yuan, Yufen; Zhang, Xinlian; Xu, Nan; Wang, Libo; Li, Fangchao; Zhang, Ping; Miao, Lanfang; Yang, Haijun

    2015-01-01

    Purpose: To study the clinical pathologic characteristics and differential diagnosis of syphilitic cervical lymphadenitis, and to improve the rate of its diagnosis and treatment. Methods: Retrospectively analyzed the clinical history, Trepone pallidum-ELISA (TP-ELISA), rapid plasma regain test (RPR) and routine pathological examination of the patient diagnosed as syphilis lymphadenitis. And review related literatures. Results: The main clinical presentation was multiple palpable cervical lymp...

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

    Directory of Open Access Journals (Sweden)

    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

  9. [Metal implant sensitivity: clinical and histological presentation].

    Science.gov (United States)

    Hartmann, D; Letulé, V; Schneider, J J; Flaig, M J

    2016-05-01

    Metal implant sensitivity (intolerance) can cause pain, reduced mobility, loosening of the implant and skin rashes. Knowledge of differential diagnoses, histology and appropriate diagnostics are essential for proper diagnosis. To outline typical clinical signs and histology in metal-implant-associated skin lesions we present three exemplary patients from our implant allergy outpatient department and give an overview of the current literature regarding metal implant sensitivity. In patients with a negative patch test the lymphocyte transformation test may reveal metal sensitization. Even "pure" titanium alloys may contain traces of nickel. The histology of implant-associated skin reactions goes from teleangiectatic postimplantation erythema to eczema and vasculitis. Based on the synopsis of history, clinical picture, allergological testing and histology, metal implant sensitivity can be diagnosed more precisely. PMID:27090521

  10. 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.)

  11. Pyogenic sacroiliitis: diagnosis, management and clinical outcome

    International Nuclear Information System (INIS)

    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.)

  12. Diagnosis and Clinical Course of Unexplained Dysphagia

    OpenAIRE

    Yeom, Jiwoon; Song, Young Seop; Lee, Won Kyung; Oh, Byung-Mo; Han, Tai Ryoon; Seo, Han Gil

    2016-01-01

    Objective To investigate the final diagnosis of patients with unexplained dysphagia and the clinical and laboratory findings supporting the diagnosis. Methods We retrospectively analyzed 143 patients with dysphagia of unclear etiology who underwent a videofluoroscopic swallowing study (VFSS). The medical records were reviewed, and patients with a previous history of diseases that could affect swallowing were categorized into a missed group. The remaining patients were divided into an abnormal...

  13. Clinical or radiological diagnosis of impingement

    International Nuclear Information System (INIS)

    Shoulder impingement syndrome is a clinically common entity involving trapping of tendons or bursa with typical clinical findings. Important radiological procedures are ultrasound, magnetic resonance imaging (MRI) and MR arthrography. Projection radiography and computed tomography (CT) are ideal to identify bony changes and CT arthrography also serves as an alternative method in cases of contraindications for MRI. These modalities support the clinically suspected diagnosis of impingement syndrome and may identify its cause in primary diagnosis. In addition, effects of impingement are determined by imaging. Therapy decisions are based on a synopsis of radiological and clinical findings. The sensitivity and specificity of these imaging modalities with regard to the diagnostics of a clinically evident impingement syndrome are given in this review article. Orthopedic and trauma surgeons express the suspicion of an impingement syndrome based on patient history and physical examination and radiologists confirm structural changes and damage of intra-articular structures using dedicated imaging techniques. (orig.)

  14. Clinical case: Differential diagnosis of idiopathic pulmonary fibrosis

    OpenAIRE

    Cordeiro, Carlos Robalo; Alfaro, Tiago M.; Freitas, Sara

    2013-01-01

    Background The diagnosis of idiopathic pulmonary fibrosis can be quite challenging, even after careful clinical evaluation, imaging and pathological tests. This case report intends to demonstrate and discuss these difficulties, especially those concerning the differential diagnosis with chronic hypersensitivity pneumonitis. Case presentation A 58-year-old white male presented with shortness of breath, dry cough, fatigue and weight loss for two months. He was a former smoker and had regular ex...

  15. 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

  16. 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

  17. Clinical presentation and staging of Hodgkin lymphoma.

    Science.gov (United States)

    Gallamini, Andrea; Hutchings, Martin; Ramadan, Safaa

    2016-07-01

    In the present chapter the authors present a brief overview of the diagnostic methods proposed over time for Hodgkin lymphoma (HL) spread detection, moving from surgical procedures, through standard radiological and functional imaging techniques to the present state of the art for HL staging. 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 tomography (FDG-PET) scan in the armamentarium of staging procedures will be presented and commented, with a special emphasis on the utility of special procedures, such as bone marrow trephine biopsy, which is deemed no longer needed in the PET era. While the HL diagnosis is straightforward in most cases, 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 will be based on a operator-independent, quantitative readings of the scan thanks to a plethora of sophisticated dedicated software, which are now available, able to quantify every voxel captured by the tumor to display the metabolically active tumor volume. Moreover, new tracers are now available able to track the new pathways of cellular metabolism beside glycolysis such as amino acids or purine-analogues or specific oncoproteins; the preliminary, promising results will be reported. Preliminary results from other imaging techniques, such as diffusion-weighted magnetic resonance (DW-MRI) will be also reported. PMID:27496305

  18. Endodontic microsurgery, presentation of a clinical case

    International Nuclear Information System (INIS)

    A literature review is conducted on endodontic surgery. The report of a clinical case is facilitated. The technique chosen according to the clinical and radiographic examination was endodontic microsurgery, the case has presented a positive evolution of four years

  19. 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.

  20. Clinical manifestations and diagnosis of acromegaly.

    Science.gov (United States)

    Lugo, Gloria; Pena, Lara; Cordido, Fernando

    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. 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. PMID:22518126

  1. 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...

  2. Calibre Persistent Labial Artery: Clinical Features and Immunohistochemistry Diagnosis.

    Science.gov (United States)

    Santagata, M; Maglione, M; Colella, G; D'Amato, S

    2015-09-01

    Calibre persistent labial artery (CPLA) usually presents as an asymptomatic papule on the lower lip and can be easily misdiagnosed as a mucocele, haemangioma, venous lake, varix or fibroma. When it is ulcerated, squamous cell carcinoma is the most usual differential diagnosis. Here, we report a case of a 25-year-old woman with no previous relevant medical history who presented with a complaint of an asymptomatic, non-ulcerated, progressively growing nodule (over the last 5 months) on the upper lip. In this case, the diagnosis was made clinically and confirmed by immunohistochemical analysis. We conclude that clinicians should be aware of CPLA and it should be included in the differential diagnosis of labial mucosal papules. Sometimes, the immunohistochemical analysis is necessary to make a correct diagnosis. PMID:26225087

  3. [Clinical diagnosis and treatment of allergic pharyngitis].

    Science.gov (United States)

    Liu, Jinfeng; Yan, Zhanfeng; Zhang, Mingxia

    2015-08-01

    Although the concept of united airway disease has been widely accepted, most scholars emphasize only the effect of rhino-sinusitis while ignoring the pharyngeal factors to the lower airway, especially to the allergic pharyngitis (AP), which still lacks enough awareness. First of all, absence of unified diagnostic standard leads to the lack of epidemiological data, which, results in doctors' personal experience but no guideline in treatments. In addition, it is still not clear that the role of AP in the allergic airway diseases and its relationship with asthma. However, the number of patients with AP has been increasing obviously in daily clinic practice. Combined with the previous observation, this paper does a systematic review about the clinical problems of AP, expecting to give a hand to the clinical diagnosis and treatment of AP. PMID:26685417

  4. Ovarian tumors: pathogenia, clinical pattern, echographic and histopathological diagnosis

    International Nuclear Information System (INIS)

    Two case reports of young patients, who were treated in the Otolaryngology Department from 'Dr. Joaquin Castillo Duany' Teaching Clinical Surgical Hospital in Santiago de Cuba are presented. One of the cases presented nasal obstruction, rhinorrhoea and facial pain, for 7 months; the other one presented an increase of volume in the right ocular globe. In both, the results of the biopsy confirmed the diagnosis of differentiated nasosinusal epidermoid carcinoma

  5. [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.

  6. Nasopharyngeal bursitis: from embryology to clinical presentation

    OpenAIRE

    AE El-Shazly; S Barriat; PP Lefebvre

    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. 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.

  8. Clinical diagnosis of malignant pleural mesothelioma

    International Nuclear Information System (INIS)

    We evaluated clinical and thoracoscopic findings of cases that underwent thoracoscopic biopsy for the diagnosis of malignant pleural mesothelioma. We reviewed 32 cases suspected of having malignant pleural mesothelioma from 2003 to 2006. We made a diagnosis of malignant pleural mesothelioma via thoracoscopic biopsy (19 cases). The cut-off level of hyaluronic acid in malignant effusions, selected on the basis of the best diagnostic efficacy, was 100 μg/ml. We can decrease the incidence of false negative cases by the combination of CT findings and the presence of hyaluronic acid in pleural effusion. In the pleural thickening type of thoracoscopic appearance, the parietal pleurae were thickened, and small nodules were rare. As for this type, tumor cells were histologically absent or confined to the submesothelial tissue. We considered that determinations of specific sites were difficult. Adequate tissue samples obtained via video-assisted thoracoscopy were necessary for diagnosis. We can decrease the incidence of false negative cases by the combination of the presence of hyaluronic acid in pleural effusion and thoracoscopic biopsy. (author)

  9. 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.

  10. Cytological diagnosis of multiple myeloma presenting as a jaw swelling

    OpenAIRE

    Mehdi Ghazala; Ansari Hena; Haider Nazima

    2009-01-01

    Multiple myeloma is a systemic B-cell lymphoproliferative disease with varied manifestations. Its diagnosis can therefore pose difficulties for both the clinicians and pathologists. Jaw lesions, though not uncommon, rarely present as the first sign in multiple myeloma. We present here the case of a 45 year-old female who presented with a swelling of the jaw and on subsequent work-up, was diagnosed with multiple myeloma. Recent research regarding this disease has also been highlighted.

  11. 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.

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

    International Nuclear Information System (INIS)

    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.)

  14. Present and future possibilities for early diagnosis of hepatocellular carcinoma

    Institute of Scientific and Technical Information of China (English)

    Piotr; Stefaniuk; Janusz; Cianciara; Alicja; Wiercinska-Drapalo

    2010-01-01

    Hepatocellular carcinoma(HCC) represents the fifth most common cancer in the world,and the third most frequent oncological cause of death.The incidence of HCC is on the increase.HCC typically develops in patients with chronic liver diseases,and cirrhosis,usually with viral etiology,is the strongest predisposing factor.Nowadays HCC diagnosis is a multistage process including clinical,laboratory,imaging and pathological examinations.The prognosis of HCC is mostly poor,because of detection at an advanced,non-r...

  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 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....../27 mutations as either severe (age of onset 20 years), and correctly predicted the age of onset in 37/39 patients. This method should be tested in other Wilson populations....

  17. 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....../27 mutations as either severe (age of onset 20 years), and correctly predicted the age of onset in 37/39 patients. This method should be tested in other Wilson populations....

  18. [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.

  19. 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.

  20. Mushroom poisoning in children: clinical presentation and outcome

    International Nuclear Information System (INIS)

    A variable clinical picture characterizes mushroom poisoning. The Amatoxin, the main toxic component of these fungi, are responsible for gastrointestinal symptoms as well as hepatic and renal failure. As acute gastroenteritis is extremely common in our set up, so every patient presenting with these symptoms is treated as gastroenteritis of viral aetiology. The authors present the clinical picture of the phalloid syndrome, its treatment and immediate outcome. All children age less than 16 years admitted in Saidu Hospital Swat from January to December 2006 with mushroom poisoning were included in the study. Patients with doubtful history or with associated illness were not included. The diagnosis was based on the clinical picture of the patient, history and the laboratory data. In addition to maintenance of fluid and electrolyte balance and treating sepsis, oral Silymarin and intravenous penicillin was started. Liver function tests, renal functions tests, serum electrolytes and coagulation profile was done in all the patients. The severity of poisoning was graded according to hepatic transaminase elevations and prolongation of prothrombin time. Of the 18 patients, fifteen were above five years of age. Female were twice in number. Fifteen patients developed hepatic failure and three patients developed renal failure. Thirteen patients expired. To start timely management, Mushroom poisoning should be considered in the differential diagnosis in patients presenting with food poisoning particularly coming in groups. Delay in diagnosis is associated with high mortality. (author)

  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. Calibre persistent labial artery: clinical features and noninvasive radiological diagnosis.

    Science.gov (United States)

    Kocyigit, P; Kocyigit, D; Akay, B N; Ustuner, E; Kisnisci, R

    2006-07-01

    Calibre persistent labial artery (CPLA) is defined as a primary arterial branch that penetrates into the submucosal tissue without division or decrease in diameter. It usually presents as an asymptomatic papule on the lower lip and can be easily misdiagnosed as a varix, haemangioma, venous lake, mucocele or fibroma. When it is ulcerated, squamous cell carcinoma is the most usual differential diagnosis. The most frequently used method to confirm the diagnosis of CPLA has been excisional biopsy, which carries the risk of profuse bleeding. Angiography, another invasive method, has also been used. Here, we report a case of a 20-year-old woman with a 5-year history of multiple CPLA lesions involving both upper and lower lips. In this case, the diagnosis was made clinically and confirmed by Doppler ultrasonography, which is a noninvasive and simple diagnostic tool. PMID:16716155

  3. [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.

  4. 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

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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 

  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. 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.)

  12. Clinical presentation of pili torti - Case report*

    Science.gov (United States)

    Yang, Jeane Jeong Hoon; Cade, Karine Valentim; Rezende, Flavia Cury; Pereira, José Marcos; Pegas, José Roberto Pereira

    2015-01-01

    Pili torti also known as ‘twisted hairs’ (Latin: pili=hair; torti=twisted) is a rare, congenital or acquired clinical presentation, in which the hair shaft is flattened at irregular intervals and twisted 180º along its axis. It is clinically characterized by fragile, brittle, coarse and lusterless hairs, due to uneven light reflection on the twisted hair surface. Pili torti may be associated with neurological abnormalities and ectodermal dysplasias. There is no specifi c treatment for this condition, but it may improve spontaneously after puberty. We report a case of pili torti in a child who presented fragile, brittle, diffi cult to comb hair. The patient had no comorbidities. PMID:26312667

  13. Pulmonary Embolism Presenting as Abdominal Pain: An Atypical Presentation of a Common Diagnosis.

    Science.gov (United States)

    Rehman, Hasan; John, Elizabeth; Parikh, Payal

    2016-01-01

    Pulmonary embolism (PE) is a frequent diagnosis made in the emergency department and can present in many different ways. Abdominal pain is an unusual presenting symptom for PE. It is essential to maintain a high degree of suspicion in these patients, as a delay in diagnosis can be devastating for the patient and confers a high risk of mortality if left untreated. Here, we report the case of a 53-year-old male who presented to the emergency department with worsening right upper quadrant abdominal pain with fevers. Initial imaging was benign, although lab work showed worsening leukocytosis and bilirubin. Abdominal pathology seemed most likely, but the team kept PE on the differential. Further imaging revealed acute pulmonary embolus in the segmental branch of the right lower lobe extending distally into subsegmental branches. The patient was started on anticoagulation and improved drastically. This case highlights the necessity of keeping a broad differential and maintaining a systematic approach when dealing with nonspecific complaints. Furthermore, a discussion on the pathophysiology on why PE can present atypically as abdominal pain, as well as fevers, is reviewed. Using this information can hopefully lead to a subtle diagnosis of PE in the future and lead to a life-saving diagnosis. PMID:27642528

  14. Clinical evaluation of ischemic heart diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Kamei, Fumio (Sendai Railway Hospital (Japan))

    1983-09-01

    Attempt were made to detect the existence of myocardial ischemia by means of both radiographic and scintigraphic techniques. Firstly, a new polygraph was especially designed for selecting the arbitrary phases in a cardiac cycle at which the corresponding radiogram should be synchronously obtained. A comparative investigation on the difference between end-systolic and-diastolic cardiac transverse diameters revealed a remarkable difference of 3.6% in normal subjects and 0.6% in patients with ischemic heart disease. These data indicating the difference of overall heart size was reflected in local dyskinesis documentation of recently developed techniques. For daily clinical purposes, radiography of the chest based on synchronously selected phases would contribute to accurate diagnosis and treatment of heart disease. Secondly, scintigraphic display using intravenously injected thallium-201 was clinically applied. For detection of ischemia, comparative study was performed of initial image relative to selective coronary cineangiography and stress scintigraphy. The former indicated a good correlation of 90%, whereas the latter served to enhance sensitivity. Sequential images (initial and delayed) facilitated the distinction of normal, necrotic, and ischemic areas. Scintigram was used for objective evaluation of coronary dilator (dilazep), either at immediate or follow-up stage. In the same way, it was also possible to indicate the effectiveness of sublingually given nitroglycerin by myocardial scintigram, where by significant increase of uptake was observed 20 minutes after administration. Rehabilitation after acute heart disease was discussed, especially on the peripheral effect. Ratio of the thigh muscle to myocardium shown in this study was useful for objective evaluation. Another preliminary study is to separate normal coronary arteries from myocardial necrosis.

  15. 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.

  16. 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.

  17. 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.

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

    DEFF Research Database (Denmark)

    Tørring, Marie Louise

    association was reverse, although not statistically significant. The thesis demonstrates how confounding by indication hampers the epidemiological study design by masking the actual effect of delay. For obvious clinical reasons, doctors respond faster to patients who are clinically very sick and have clear...... than other patients. Some studies illustrating this paradox take the results to show no association and find them reassuring. The aim of this thesis was to validly identify an underlying relation between delayed diagnosis and mortality by exploring the association between time from first presentation...... of symptoms in primary care to diagnosis (the diagnostic interval) and mortality after diagnosis of cancer. The empirical part of the thesis consists of three papers based on data from two Danish and one British population-based study. In Paper I, we analyse the association between the length of...

  19. 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.

  20. Unusual clinical presentation of anaplastic large cell lymphoma

    Directory of Open Access Journals (Sweden)

    Fernando Peixoto Ferraz de Campos

    2014-03-01

    Full Text Available Anaplastic large cell lymphoma (ALCL, a well-recognized entity, presents a varied clinical picture and epidemiological characteristics associated with the expression of the anaplastic lymphoma kinase (ALK protein. When classic symptoms are present (weight loss, fever, and night sweats and combine with enlarged and easily accessible peripheral lymph nodes, diagnosis is not that difficult. But when the clinical presentation is nonspecific, a tough diagnostic task is required. HIV infection is highly associated with neoplastic disorders—mainly with those of hematological origin. However, ALCL is exceptionally associated with HIV infection, and the few reported cases are ALK– ALCL. The authors report two cases of ALK+ ALCL with the unusual clinical presentation: one is associated with the HIV infection and the other presents as a fever of unknown origin (FUO without peripheral lymphadenopathy. The latter was autopsied and was characterized by nodal and extra nodal involvement. The authors call attention to the plurality of clinical presentation of this group of lymphomas, and the early indication of bone marrow examination in cases of an FUO with elevated hepatic enzymes and lactic dehydrogenase.

  1. 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

  2. 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.

  3. Central pontine myelinolysis: clinical presentation and radiologic findings

    International Nuclear Information System (INIS)

    Central pontine myelinolysis (CPM) is a neurologic disorder once thought to be uniformly fatal. With the introduction of CT and MRI there was an increasing number of reports on nonfatal cases of CPM. Nearly all reports on nonfata cases describe severe clinical syndromes with tetraparesis, bulbar palsy, and coma. We reviewed nine patients with CPM and compared the size of the pontine lesion on MRI and CT with the severity of clinical presentation. Clinical presentation of CPM was highly variable: The symptoms ranged from severe neurologic disorders to mild neurologic disturbances only. Two of nine patients died from CPM. The size of the pontine lesion did not correlate with the severity of the neurologic illness or the final outcome. Mild forms of CPM might be difficult to diagnose clinically. This applies even more for patients with underlying diseases such as Wernicke's encephalopathy, which in itself might cause a clinical picture similar to that of CPM. Central Pontine Myelinolysis is a major differential diagnosis in acute neurologic deterioration indicating pontine damage. Magnetic resonance imaging is the decisive diagnostic tool for CPM. (orig.)

  4. 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

  5. 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.

  6. 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. PMID:11699999

  7. 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.

  8. Infantile Pompe disease: Clinical picture, diagnosis, and treatment

    Directory of Open Access Journals (Sweden)

    N. P. Kotlukova

    2012-01-01

    Full Text Available Pompe disease is a rare inherited disease that belongs to lysosomal accumulation diseases and can be considered as cardiac glycogenosistype II, as well as a severe neuromuscular disease or metabolic myopathy. Physicians of different specialties very rarely identify this pathology, which is due to both its rarity and clinical and genetic polymorphism. Infantile Pompe disease is the severest form. It is characterized by a progressive pattern and a fatal outcome during the first year of life. The possibility of performing enzyme replacement therapy for this disease, which can improve the prognosis and quality of life of patients, makes the early diagnosis of Pompe disease urgent. The paper describes the clinical presentation of infantile Pompe disease and current methods for its diagnosis and treatment. The authors give their experience in diagnosing and treating infantile Pompe disease, by demonstrating 3 cases of the disease. The characteristics of each infant, which confirm the clinical and genetic variety of this pathology, are discussed.

  9. Clinical presentations and outcomes of Filipino juvenile systemic lupus erythematosus

    Directory of Open Access Journals (Sweden)

    Dans Leonila F

    2011-02-01

    Full Text Available Abstract Objective Juvenile Systemic Lupus Erythematosus (SLE varies by location and ethnicity. This study describes the clinical, laboratory profile and outcome of juvenile SLE seen at Philippine General Hospital (PGH from 2004-2008. Method Medical charts of all Filipino Juvenile SLE cases admitted at PGH during the 5-year period were reviewed collecting demographic profile, clinical and laboratory manifestations and treatment during disease course. Results Seventy-eight cases of juvenile SLE were reviewed. There were 7 boys and 71 girls. The mean age at diagnosis was 14 years (SD 2.7 with a range of 8-18 years. Fever (52.5% and malar rash (41.0% were the most common features at disease onset. At the time of diagnosis, the most common features were malar rash (65.3%, renal involvement (62.8% and photosensitivity (55.1%. Mucocutaneous (92.3%, renal (71.7% and hematologic (69.2% involvement were the most common features during the entire course of illness. Infection (34.5% and neurologic (19.0% complications were observed most frequently. Corticocosteroid treatment was given in most of the patients in the form of prednisone (97.4% and concomitant methylprednisolone intravenous pulses (29.4%. Nine patients died during the study period. The overall 5-year mortality rate was 11.5%. Infection (77.0% was the most frequent cause of death. Conclusion Malar rash was a common feature at disease onset and at diagnosis among Filipinos with juvenile SLE. Throughout the disease course, renal involvement occurs in 71.7% of patients. Infection was the leading cause of complication and death. The clinical presentations of Filipinos with juvenile SLE were similar to juvenile SLE in other countries.

  10. Early diagnosis of Alzheimer's disease. Clinical significance and future perspectives

    International Nuclear Information System (INIS)

    Early diagnosis of Alzheimer's disease describes the recognition and diagnosis in patients with very mild dementia. Internationally accepted diagnostic criteria support the diagnosis based on clinical evaluation. Recent advances in structural and functional neuroimaging as well as studies on specific proteins in the cerebro-spinal fluid that are related to distinct pathophysiological disease processes are most promising approaches to defining biological markers of Alzheimer's disease. (orig.)

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

    OpenAIRE

    Mahmoud Reza ASHRAFI; Alireza TAVASOLI

    2012-01-01

    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.• Glu...

  12. 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…

  13. 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.

  14. 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.

  15. Clinical diagnosis of uterine didelphia in Ayrshire heifer

    OpenAIRE

    Raggio, Ignacio; Lefebvre, Rejean C.; Poitras, Pierre; Vaillancourt, Denis; Champagne, Jean P.

    2006-01-01

    A 24-month-old Ayrshire heifer was referred because of infertility. A clinical diagnosis of uterus didelphys was established after a complete genital examination before the animal was culled from the herd.

  16. [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.

  17. [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. PMID:26233977

  18. 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.

  19. Granulomatous Amoebic Encephalitis: Clinical Diagnosis and Management

    OpenAIRE

    Khan, Naveed A.

    2005-01-01

    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 p...

  20. 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.

  1. 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.

  2. 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.

  3. [Early Diagnosis of Osteoarthritis: Clinical Reality and Promising Experimental Techniques].

    Science.gov (United States)

    Arnscheidt, C; Meder, A; Rolauffs, B

    2016-06-01

    It is considered that the structural damage in early osteoarthritis (OA) is potentially reversible. It is therefore particularly important for orthopaedic and trauma surgery to develop strategies and technologies for diagnosing early OA processes. This review presents 3 case reports to illustrate the current clinical diagnostic procedure for OA. Experimental techniques with translational character are discussed in the context of the detection of early degenerative processes relevant to OA. Non-invasive imaging methods such as quantitative MRI, ultrasound, optical coherence tomography (OCT), scintigraphy and diffraction-enhanced synchrotron imaging (DEI), as well as biochemical methods and proteomics, are considered. Early detection of OA is reviewed with minimally invasive techniques, such as arthroscopy, as well as the combination of arthroscopic techniques with indentation, spectrometry, and multiphoton microscopy. In addition, a brief summary of macroscopic and histologic scores is presented. Finally, the spatial organisation of joint surface chondrocytes as an image-based biomarker is used to illustrate an early OA detection strategy that focusses on early changes in tissue architecture potentially prior to damage. In summary, multiple translational techniques are able to detect early OA processes but we do not know whether they truly represent the initial events. Moreover, at this point it is difficult to judge the future clinical relevance of these procedures and to compare their efficacy, as there have been comparative studies. However, the expected gain in knowledge will hopefully help us top attain a more comprehensive understanding of early OA and to develop novel methods for its early diagnosis, therapy, and prevention. Overall, the clinical diagnosis of early OA remains one of the greatest challenges of our field. We still face uncharted territory. PMID:26894867

  4. 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.

  5. 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.

  6. Cytological diagnosis of bancroftian filariasis presented as a subcutaneous swelling in the cubital fossa: an unusual presentation.

    Science.gov (United States)

    Pandey, Pinki; Dixit, Alok; Chandra, Subrat; Tanwar, Aparna

    2015-04-01

    Filariasis is a disabling parasitic disease and the prevalence of lymphatic filariasis caused by Wuchereria bancrofti is quite high in India. However, W. bancrofti presenting as a subcutaneous swelling and a demonstration of microfilariae in cytological smears from upper extremity lesions is extremely rare. We report a case of 20-year-old male who presented with a small subcutaneous swelling near medial aspect of the left cubital fossa. The wet mount preparation showed many motile microfilariae. Cytology smears revealed a large number of sheathed microfilariae with the tail tip free of nucleus, identified as W. bancrofti without significant inflammatory cell infiltrate. Indirect ELISA was highly positive for specific recombinant W. bancrofti filarial antigen (WL-L2). The role of cytology cannot be underestimated in clinically unanticipated cases of bancroftian filariasis, especially with the amicrofilaremic state. Filariasis should always be considered in the differential diagnosis during cytological evaluation of any swelling, especially in endemic areas. PMID:26634138

  7. [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. PMID:23240492

  8. 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

  9. The research progress of clinical diagnosis of spinal muscular atrophy

    Directory of Open Access Journals (Sweden)

    WANG Ning

    2012-06-01

    Full Text Available Spinal muscular atrophy (SMA is a common autosomal recessive neuromuscular disease caused by degeneration of anterior horn cell in spinal cord. The clinical feature is characterized by progressive symmetrical myasthenia and amyotrophia. The disease is caused by mutation of survival motor neuron (SMN1 gene. Four clinical types are defined for SMA: type Ⅰ, Ⅱ, Ⅲ and Ⅳ. The diagnosis depends on clinical manifestation, inherited history, laboratory test and genetic analysis. To date, there is no effective treatment for SMA, so prenatal diagnosis and carrier screening are important for the prevention of this disease.

  10. A case of clinical Reye syndrome presenting characteristic CT changes

    International Nuclear Information System (INIS)

    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. (author)

  11. Wernicke encephalopathy: MR findings and clinical presentation

    Energy Technology Data Exchange (ETDEWEB)

    Weidauer, Stefan; Lanfermann, Heinrich; Zanella, Friedhelm E. [Institute of Neuroradiology, University of Frankfurt, Frankfurt (Germany); Nichtweiss, Michael [Department of Neurology, Municipal Hospital of Wismar, Wismar (Germany)

    2003-05-01

    Wernicke encephalopathy (WE) is a severe neurological disorder caused by vitamin B1 deficiency. The aim of the study was to analyse MRI findings typical for this disease and to evaluate the significance of their correlations with clinical symptoms. Magnetic resonance images and clinical features of 12 patients with WE were analysed. The patients underwent MR imaging within 3-14 days after onset of clinical symptoms. In 7 of 12 patients MR imaging showed symmetrical diencephalic and midbrain lesions. Postcontrast T1-weighted images from 5 of 9 patients examined during the initial 6 days of acute WE showed a subtle enhancement of the mamillary bodies, the tectal plate, the periaqueductal area and the periventricular region of the third ventricle including the paramedian thalamic nuclei. In addition, T2-weighted and fluid-attenuated inversion recovery (FLAIR) images revealed hyperintense signals in these regions (except for 2 patients where the mamillary bodies were normal). Hyperintense lesions on T2-weighted images without any enhancement on postcontrast T1-weighted images were detected in 2 patients by MR imaging performed 11 or 14 days after onset of WE. Patients with hyperintensities on T2-weighted images of the periventricular region of the third ventricle and the paramedian thalamic nuclei had poor recovery from their mental dysfunction. The MR examination in case of WE shows a typical pattern of lesions in 58% of cases. Enhancement of the mamillary bodies, the periventricular region of the third ventricle including the paramedian thalamic nuclei, and the periaqueductal area on postcontrast T1-weighted images can be observed in the initial period after clinical onset of symptoms and are characteristic signs of the acute stage of WE. Hyperintense lesions in the periventricular region and the paramedian thalamic nuclei on T2-weighted and FLAIR images in the subacute stage of WE and enhancement on postcontrast T1-weighted images of the mamillary bodies and the

  12. Clinical oncology in Malaysia: 1914 to present

    OpenAIRE

    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...

  13. 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

  14. Subacute Thyroiditis: Clinical Presentation and Long Term Outcome

    Directory of Open Access Journals (Sweden)

    Assim A. Alfadda

    2014-01-01

    Full Text Available Few studies have been reported from the Kingdom of Saudi Arabia (SA to describe the clinical presentation and long term outcomes of subacute thyroiditis (SAT. Our aim was to review the demographic, anthropometric, clinical presentation, laboratory results, treatment, and disease outcome in Riyadh region and to compare those with results from different regions of the Kingdom and different parts of the world. We reviewed the medical files of patients who underwent thyroid uptake scan during an 8-year period in King Khalid University Hospital. Only 25 patients had confirmed diagnosis of thyroiditis. Age and gender distribution were similar to other studies. Most patients presented with palpitation, goiter, and weight change. Elevated thyroid hormones, suppressed thyroid-stimulating hormone, and elevated ESR were reported. Among those, 7 cases of SAT were recorded. β-Blockers were prescribed to 57% and nonsteroidal anti-inflammatory drugs to 29% of SAT. Long follow-up demonstrated that 85.7% of SAT cases recovered, while 14.3% developed permanent hypothyroidism. In conclusion, SAT is uncommon in the central region of SA. Compared to the western region, corticosteroid is not commonly prescribed, and permanent hypothyroidism is not uncommon. A nation-wide epidemiological study to explain these interprovincial differences is warranted.

  15. Evaluating suspected work-related neurologic disorders (clinical diagnosis).

    Science.gov (United States)

    Lotti, Marcello; Aminoff, Michael J

    2015-01-01

    The clinical diagnosis of work-related neurologic disorders is essentially one of exclusion because symptoms and signs are often nonspecific. The clinical reasoning requires a three-step approach: (1) establish the characteristics of the presenting disease; (2) ascertain that observed clinical features are consistent with those caused by the suspected agent(s); and (3) assess occupational exposures. A detailed history is of paramount importance in evaluating patients with suspected work-related neurologic disorders as it is in other clinical contexts, especially because in some circumstances it may represent the only criterion to establish causality. Thus, besides characterization of neurologic symptoms, including their location, quality, timecourse, and possible other associated symptoms, the work environment of the patient should be understood in full detail. In this respect, when a neurotoxin is suspected, then the history collection can be guided by the knowledge of the likely syndromes it produces. Similarly, physical examination should be directed to the target of toxicity/entrapment based on information from the work history. Although specific sites and elements of the nervous system may be affected depending on the offending agent, most neurotoxic disorders are characterized by generalized rather than focal neurologic abnormalities. Laboratory toxicologic tests have limited application for the etiologic diagnosis of neurotoxic disorders, except in cases of acute poisoning and in patients exposed to neurotoxic chemicals with prolonged half-life. In most cases examination takes place after the end of exposure, when the offending chemical is no longer detectable in body fluids. Electrophysiologic studies, in particular evoked potentials, electromyography, and conduction velocities, are important to confirm the organic basis of symptoms, particularly to detect subclinical or early neurologic involvement and to reduce the number of disorders to be considered in

  16. The basics of coding a rehabilitation diagnosis in clinical practice for the physical therapist.

    Directory of Open Access Journals (Sweden)

    Romanyshyn M.J.

    2012-01-01

    Full Text Available Directions of the use international classification of functioning are considered, limitations of vital functions and health in clinical activity of physical physical therapist. Bases for the construction of rehabilitation diagnosis in clinical practice are shown. The analysis of publications of Worldwide organization of health protection and World confederation of physical therapy is presented. The necessity of the use of foregoing classification for clinical practice of physical therapist is set. The constituents of clinical activity of physical therapist are selected.

  17. 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 %.

  18. 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.

  19. 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.

  20. Clinical and Educational Gaps in Diagnosis of Nail Disorders.

    Science.gov (United States)

    Hare, Anna Q; Rich, Phoebe

    2016-07-01

    Dermatologists care for skin, hair, and nails, yet many dermatologists find nail disorders challenging. Practice gaps in knowledge, skill, and attitude in clinical practice and resident education are sometimes impediments to timely medical and surgical diagnosis of nail disorders. Limited resident exposure to diagnosis and management of complicated nail disorders and lack of experience performing diagnostic and surgical procedures impairs progress toward surmounting these gaps. PMID:27363883

  1. The Evolution of TMD Diagnosis: Past, Present, Future.

    Science.gov (United States)

    Ohrbach, R; Dworkin, S F

    2016-09-01

    This review explores the principles and process associated with the diagnosis of temporomandibular disorders (TMDs). TMD diagnosis has evolved substantially over the past 25 y. Previously, diagnosis focused solely on aberrations in oral structures, largely without empirical evidence. The Research Diagnostic Criteria for TMD (RDC/TMD) were developed on core principles of 1) a dual-axis system reflecting the biopsychosocial model, 2) a clear operationalization for reliability, and 3) the allowance of multiple diagnoses. These principles were retained in the subsequent validation research of the RDC/TMD, and the current diagnostic system-the Diagnostic Criteria for TMD (DC/TMD)-has improved on those principles as well as on diagnostic validity and protocols for assessing the psychosocial domain. Further investigations into etiology and its potential contribution to taxonomy revision are described, particularly within the context of complex disease. The review concludes with an outline of major research areas already underway that will support future revisions of the DC/TMD. PMID:27313164

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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-

  7. 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.

  8. 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.

  9. 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).

  10. 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.

  11. Process From Diagnosis To Treatment Of 3 SSPE Cases Presented At The Late Age

    Directory of Open Access Journals (Sweden)

    Aylin Bican

    2015-09-01

    Full Text Available To evaluate clinical presentation, cranial imagining, and electroencephalic signs of SSPE patients, who are diagnosed with medical history, physical examination signs, EEG and CSF examinations. A total of 3 SSPE patients (mean age= 25.3 years, internalized into Department of Neurology Clinic of Medical School at Uludag University, were evaluated retrospectively. Clinical staging was performed by using Risk and Haddad’s classification. Time to SSPE diagnosis from initial symptoms was changing from 10 days to 3 months; cases applied to physician after a couple of months that their complaints were recognized. Weakening in mental capacities extracted the attention of the families. EEG examinations revealed slow baseline activity; penetrating slow discharges with high amplitudes regularly for every 8-10 seconds. While IgM for measles was negative, IgG was positive in CSF and serum samples of all cases. Valproic acid and clonazepam were given at various doses in the treatments, and all cases received isoprinosine, too. One of the cases died 13 months after the diagnosis. The other two cases are followed up. SSPE infection should be considered in central nervous system involvements of rapidly progressive, late onset adult diseases, since recently number of case reports in SSPE is increased rapidly.

  12. 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.

  13. 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. 

  14. 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 

  15. 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)

  16. HYPERMOBILITY SYNDROME: CLINICAL MANIFESTATIONS, DIFFERENTIAL DIAGNOSIS, THERAPY APPROACHES

    OpenAIRE

    N. A. Shostak; N. G. Pravdyuk

    2016-01-01

    Connective tissue dysplasia (CTD) represents special ontogenetic abnormality which is a complex problem of contemporary medicine. The principles of differential diagnosis of various forms of CTD are considered. A clinical estimation and therapy approaches are discussed with focus on hypermobility syndrome as one of undifferentiated form of CTD.

  17. HYPERMOBILITY SYNDROME: CLINICAL MANIFESTATIONS, DIFFERENTIAL DIAGNOSIS, THERAPY APPROACHES

    Directory of Open Access Journals (Sweden)

    N. A. Shostak

    2016-01-01

    Full Text Available Connective tissue dysplasia (CTD represents special ontogenetic abnormality which is a complex problem of contemporary medicine. The principles of differential diagnosis of various forms of CTD are considered. A clinical estimation and therapy approaches are discussed with focus on hypermobility syndrome as one of undifferentiated form of CTD.

  18. 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

  19. Clinical presentation and risk factors of osteoradionecrosis

    International Nuclear Information System (INIS)

    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

  20. Diagnosis of Ebola Virus Disease: Past, Present, and Future.

    Science.gov (United States)

    Broadhurst, M Jana; Brooks, Tim J G; Pollock, Nira R

    2016-10-01

    Laboratory diagnosis of Ebola virus disease plays a critical role in outbreak response efforts; however, establishing safe and expeditious testing strategies for this high-biosafety-level pathogen in resource-poor environments remains extremely challenging. Since the discovery of Ebola virus in 1976 via traditional viral culture techniques and electron microscopy, diagnostic methodologies have trended toward faster, more accurate molecular assays. Importantly, technological advances have been paired with increasing efforts to support decentralized diagnostic testing capacity that can be deployed at or near the point of patient care. The unprecedented scope of the 2014-2015 West Africa Ebola epidemic spurred tremendous innovation in this arena, and a variety of new diagnostic platforms that have the potential both to immediately improve ongoing surveillance efforts in West Africa and to transform future outbreak responses have reached the field. In this review, we describe the evolution of Ebola virus disease diagnostic testing and efforts to deploy field diagnostic laboratories in prior outbreaks. We then explore the diagnostic challenges pervading the 2014-2015 epidemic and provide a comprehensive examination of novel diagnostic tests that are likely to address some of these challenges moving forward. PMID:27413095

  1. Present state of computer-aided diagnosis (CAD) development

    International Nuclear Information System (INIS)

    Topics of computer-aided detection (CAD) are reviewed. Commercially available, Food and Drug Administration (FDA)-approved CAD systems are for fields of breast cancer (mammography), chest (flat X-ray and CT imaging) and colon (polyp detection). In Japan, only mammography CAD is approved. Efficacy of CAD is controversial, for which reliable database is important, and its construction is under development in various medical fields. Digitalized image is now popularized, which conceivably leads to improve the cost-effectiveness of diagnosis with CAD. For incentive, approval for health insurance would be the case as seen in the increased CAD sale by R2 Technology Co., and MHLW actually assists facilities to introduce the reading-aid system of mammography by sharing a half of its cost. There are 2 big projects for CAD study supported by MECSST, which the author concerns. One is the development of diagnostic aid for the multi-dimensional medical images where the multi-organ, multi-disease CAD system is considered. The other involves the CAD in brain MRI, in breast US and in eyeground picture. It is not in so far future for patients and doctors to fully enjoy the benefit of CAD. (R.T.)

  2. 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...

  3. Diagnosis of streptococcal pharyngotonsillitis in children and adolescents: clinical picture limitations☆

    OpenAIRE

    Barbosa, Aurelino Rocha; Oliveira, Cláudia Di Lorenzo; Fontes, Maria Jussara Fernandes; Lasmar, Laura Maria de Lima Bezário Facury; Camargos, Paulo Augusto Moreira

    2014-01-01

    OBJECTIVE: To assess the utility of clinical features for diagnosis of streptococcal pharyngotonsillitis in pediatrics. METHODS: A total of 335 children aged 1-18 years old and presenting clinical manifestations of acute pharyngotonsillitis (APT) were subjected to clinical interviews, physical examinations, and throat swab specimen collection to perform cultures and latex particle agglutination tests (LPATs) for group A streptococcus (GAS) detection. Signs and symptoms of patients were compar...

  4. Diagnosis of streptococcal pharyngotonsillitis in children and adolescents: clinical picture limitations

    OpenAIRE

    Aurelino Rocha Barbosa Júnior; Cláudia Di Lorenzo Oliveira; Maria Jussara Fernandes Fontes; Laura Maria de Lima Bezário Facury Lasmar; Paulo Augusto Moreira Camargos

    2014-01-01

    OBJECTIVE: To assess the utility of clinical features for diagnosis of streptococcal pharyngotonsillitis in pediatrics.METHODS: A total of 335 children aged 1-18 years old and presenting clinical manifestations of acute pharyngotonsillitis (APT) were subjected to clinical interviews, physical examinations, and throat swab specimen collection to perform cultures and latex particle agglutination tests (LPATs) for group A streptococcus (GAS) detection. Signs and symptoms of patients were compare...

  5. Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future.

    OpenAIRE

    V.S. Baranov

    1993-01-01

    The current state of molecular diagnosis of some common genetic diseases, including cystic fibrosis, Duchenne muscular dystrophy, haemophilia A and B, phenylketonuria, and thalassaemia, in Russia and elsewhere in the former USSR is reviewed. Data on carrier detection and prenatal diagnosis are presented and some objective problems and obstacles hampering efficient molecular diagnosis in Russia are discussed. The necessity for molecular diagnosis of some other inherited diseases (for example, ...

  6. Parkinsonian syndroms: Clinical phenotype, differential diagnosis and disease progression

    International Nuclear Information System (INIS)

    Parkinsonian syndromes include idiopathic Parkinson's disease (IPD), other neurodegenerative diseases with parkinsonism, the so-called atypical parkinsonian syndromes, and symptomatic parkinsonian syndromes, such as Wilson's disease. IPD is the most frequent disease with parkinsonism as the main clinical feature and is responsible for approx. 80% of all parkinsonian syndromes. Atypical parkinsonian syndromes are the most important differential diagnoses of IPD. The two most frequent types are multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). For clinical diagnosis it is essential to take a careful medical history and to examine the patients physically in regular intervals. However, various clinico-pathological studies have shown that approx. 25% of patients with clinical diagnosis of IPD may have other causes of parkinsonism. Selected technical investigations, in particular functional imaging of the central dopaminergic system using PET or SPECT, may help to make clinical diagnosis more secure. This paper reviews the clinical features and diagnostic findings in diseases with parkinsonism and summarises the difficulties in establishing early and differential diagnoses. (orig.)

  7. 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

  8. Clinical diagnosis by computed tomography on Alzheimer type dementia

    International Nuclear Information System (INIS)

    The relationships of CT findings, intellectual impairment by psychological assessment and severity of dementia by clinical evaluation were studied on 109 patients with clinical diagnosis of Alzheimer type dementia (AD) and 43 controls. CT examinations were carried out on three tomographic sections, that is, a section through anterior and posterior horns of lateral ventricles, a section through cellae mediae of lateral ventricles and a section through cortex with intracranial space of 60-80 cm2. In the three tomographic sections, CSF space percent and half width full max (HWFM) in the histogram corresponding to brain tissue were employed as indexes of brain atrophy by CT. Psychological evaluation of dementia was made by using Hasegawa's dementia scale (HDS). The present study revealed the following findings. though CSF% in the sections through lateral ventricles significantly correlated with age, it was more significantly correlated with HDS and CDR(clinical dementia rating) scores, respectively. This finding seems to mean that the effect of dementia is so great as to override the effect of dementia. In the cortex slice, the correlations between CSF% and HDS and CDR scores were very low, though they were significant. HWFM in the same slice, showed the moderate and significant correlations with HDS and CDR scores, respectively, comparing with no relationship between HWFM and age. Concerning mean CSF% and HWFM of each group according to CDR staging, they increased with advancement of dementia. The significant differences between the groups by CDR, however, were not always obtained. According to CT indexes as independent variable, the normal subject were discriminated from the demented subjects in 82.6% of the total by discriminat analysis. (J.P.N.)

  9. Clinical criteria for the diagnosis of Parkinson's disease.

    Science.gov (United States)

    Reichmann, Heinz

    2010-01-01

    The diagnosis of Parkinson's disease (PD) follows the UK Brain Bank Criteria, which demands bradykinesia and one additional symptom, i.e. rigidity, resting tremor or postural instability. The latter is not a useful sign for the early diagnosis of PD, because it does not appear before Hoehn and Yahr stage 3. Early symptoms of PD which precede the onset of motor symptoms are hyposmia, REM sleep behavioral disorder, constipation, and depression. In addition, an increasing number of patients whose PD is related to a genetic defect are being described. Thus, genetic testing may eventually develop into a tool to identify at-risk patients. The clinical diagnosis of PD can be supported by levodopa or apomorphine tests. Imaging studies such as cranial CT or MRI are helpful to distinguish idiopathic PD from atypical or secondary PD. SPECT and PET methods are valuable to distinguish PD tremor from essential tremor if this is clinically not possible. Using all of these methods, we may soon be able to make a premotor diagnosis of PD, which will raise the question whether early treatment is possible and ethically and clinically advisable. PMID:20616563

  10. 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.

  11. Síndrome pulmonar e cardiovascular por Hantavirus: aspectos epidemiológicos, clínicos, do diagnóstico laboratorial e do tratamento Hantavirus pulmonary and cardiovascular syndrome: epidemiology, clinical presentation, laboratory diagnosis and management aspects

    Directory of Open Access Journals (Sweden)

    Luiz Tadeu M. Figueiredo

    2001-02-01

    Full Text Available A síndrome pulmonar e cardiovascular por Hantavirus (SPCVH, é doença emergente com descrição crescente de casos no Brasil. Neste trabalho, estudou-se 8 casos confirmados da doença. Todos apresentaram febre e dispnéia. Taquicardia, astenia, hipotensão e estertoração pulmonar ocorreram em 75 a 87,5% dos casos. Plaquetopenia e hipoxemia ocorreram em 100% dos casos, hemoconcentração, leucocitose com desvio à esquerda e elevação de uréia e creatinina séricas em 75 a 87,5%. Assistência respiratória, hidratação endovenosa e utilização de aminas vasoativas foram as medidas utilizadas nos pacientes. Ressalta-se que o suporte ventilatório e cardiovascular deve ser precocemente instituído, preferencialmente em unidades de terapia intensiva, com precauções universais e respiratórias de isolamento. Deve-se ter cuidados com infusão excessiva de líquidos para não agravar o edema pulmonar. A mortalidade observada, de 50%, é elevada, deveu-se à gravidade da doença e ao comparecimento tardio para tratamento intensivo. Deve-se informar sobre a SPCVH aos profissionais de saúde, considerando que casos de SPCVH, provavelmente, vêm passando desapercebidos.The Hantavirus pulmonary and cardiovascular syndrome (HPCVS is an emerging disease in Brazil. In this study, eight confirmed cases of HPCVS were studied. All the patients presented fever and dyspnea as well as thrombocytopenia and hypoxemia. Tachycardia, malaise, hypotension and lung rales occurred in 75 to 87.5% of the cases. Hemoconcentration, blood cell count increased and immature neutrophils, and high levels of creatinine were observed in 75 to 87.5%. Intravenous liquid infusion, the use of drugs for increasing systemic vascular resistance and inotropism, and mechanic ventilation were used for the patients. Mechanical ventilation and volume administration should be started precociously, preferable in intensive care units employing recommended universal and respiratory

  12. 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.

  13. 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

  14. Vestibular Schwannoma Presenting as Oral Dysgeusia: An Easily Missed Diagnosis

    Directory of Open Access Journals (Sweden)

    Emma Brown

    2016-01-01

    Full Text Available We present a case of a fifty-year-old male patient who was referred to the Oral Medicine Department with a complaint of a salty taste. History taking subsequently revealed that the patient was also experiencing intermittent numbness of his left lower lip, tinnitus, and a feeling of fullness in the left ear. Magnetic resonance imaging was performed which revealed a large vestibular schwannoma affecting the left vestibulocochlear nerve, which was treated surgically. This case shows the importance of taking a detailed history in a patient presenting with an initial complaint of oral dysgeusia. It also highlights the possibility of significant underlying pathology, presenting with initial low level, nonspecific complaints such as an altered taste, and the rationale for imaging patients who report unilateral facial hypoesthesia.

  15. Vestibular Schwannoma Presenting as Oral Dysgeusia: An Easily Missed Diagnosis.

    Science.gov (United States)

    Brown, Emma; Staines, Konrad

    2016-01-01

    We present a case of a fifty-year-old male patient who was referred to the Oral Medicine Department with a complaint of a salty taste. History taking subsequently revealed that the patient was also experiencing intermittent numbness of his left lower lip, tinnitus, and a feeling of fullness in the left ear. Magnetic resonance imaging was performed which revealed a large vestibular schwannoma affecting the left vestibulocochlear nerve, which was treated surgically. This case shows the importance of taking a detailed history in a patient presenting with an initial complaint of oral dysgeusia. It also highlights the possibility of significant underlying pathology, presenting with initial low level, nonspecific complaints such as an altered taste, and the rationale for imaging patients who report unilateral facial hypoesthesia. PMID:27022490

  16. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

    OpenAIRE

    Braunlin, Elizabeth A.; Harmatz, Paul R.; Scarpa, Maurizio; Furlanetto, Beatriz; Kampmann, Christoph; Loehr, James P.; Ponder, Katherine P.; Roberts, William C.; Rosenfeld, Howard M.; Giugliani, Roberto

    2011-01-01

    The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and...

  17. The Varicocele: Clinical Presentation, Evaluation, and Surgical Management.

    Science.gov (United States)

    Lomboy, Jason R; Coward, Robert M

    2016-09-01

    A varicocele is an abnormal dilatation and tortuosity of the veins of the spermatic cord. Although varicoceles are common in the general population and are frequently found on routine physical examinations, they represent the most common correctable cause of male factor infertility. Varicoceles are also often incidental findings on imaging studies, particularly scrotal ultrasound. Importantly, not all varicoceles should be treated equally (or at all), and basic guidelines on the evaluation and indications for treatment of adult varicoceles should be reviewed before counseling and treatment. A semen analysis should be obtained for any male patient of reproductive age considering intervention. The adolescent varicocele is managed much differently than the adult varicocele and remains a source of controversy. This review describes the clinical presentation and the evaluation of adult and pediatric varicoceles, and provides guidance on their diagnosis and workup. It also describes options for surgical repair and the success and complication rates associated with each surgical approach, ultimately supporting microsurgical subinguinal varicocele repair as the current surgical standard. PMID:27582602

  18. 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.

  19. 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 preexisti....../mucosal symptoms, oral contact dermatitis, erythroderma/exfoliative dermatitis, minor forms of presentation, and extracutaneous manifestations.......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...

  20. Incidental Diagnosis of MEN1 Syndrome in a Pediatric Patient Presenting With Obstructive Jaundice and Abdominal Pain.

    Science.gov (United States)

    Jones, Jason D; Cengia, Brent; Conway, Jason; Pawa, Rishi

    2016-04-01

    A 16-year-old adolescent boy presented with obstructive jaundice and was incidentally found to have a well-differentiated pancreatic endocrine neoplasm upon endoscopic ultrasound. The discovery of this tumor led to further investigation and the eventual diagnosis of MEN1 syndrome. The diagnosis of MEN1 can prove difficult, and lack of treatment has been shown to lead to early mortality. One must maintain clinical suspicion for this disease in the evaluation of patients presenting with suspicious lesions of unknown etiology, especially those involving the pancreas, anterior pituitary, and parathyroid glands. PMID:27144202

  1. DNA hybridization probe for clinical diagnosis of Entamoeba histolytica.

    OpenAIRE

    Samuelson, J.; Acuna-Soto, R; Reed, S; Biagi, F; Wirth, D.

    1989-01-01

    As an alternative to microscopic identification of Entamoeba histolytica parasites isolated from stool, a sensitive and species-specific DNA hybridization probe was made for rapid diagnosis of E. histolytica parasites in clinical samples directly applied to nylon membranes. The DNA hybridization probe was made by screening a genomic library of a virulent HM-1:IMSS strain of E. histolytica to detect recombinant plasmids containing highly repeated parasite DNA sequences. Four plasmid clones tha...

  2. Effect of “diagnosis threat” in clinical setting

    OpenAIRE

    Fresson, Megan; Dardenne, Benoît; Meulemans, Thierry

    2014-01-01

    Objective. When reminded of their neurological history, mild traumatic brain injured (TBI) students underperform on neuropsychological tests (Suhr & Gunstad, 2002). To date, this “diagnosis threat” (DT) phenomenon has mainly been studied with a non-clinical and high-functioning population (university students). The aim of this study was twofold: to study this phenomenon with neurological patients and to examine the mechanisms responsible for underperformance. Method. Patients (18-55 years-old...

  3. 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.

  4. 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.

  5. [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.

  6. 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.

  7. 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…

  8. Computer-aided diagnosis and artificial intelligence in clinical imaging.

    Science.gov (United States)

    Shiraishi, Junji; Li, Qiang; Appelbaum, Daniel; Doi, Kunio

    2011-11-01

    Computer-aided diagnosis (CAD) is rapidly entering the radiology mainstream. It has already become a part of the routine clinical work for the detection of breast cancer with mammograms. The computer output is used as a "second opinion" in assisting radiologists' image interpretations. The computer algorithm generally consists of several steps that may include image processing, image feature analysis, and data classification via the use of tools such as artificial neural networks (ANN). In this article, we will explore these and other current processes that have come to be referred to as "artificial intelligence." One element of CAD, temporal subtraction, has been applied for enhancing interval changes and for suppressing unchanged structures (eg, normal structures) between 2 successive radiologic images. To reduce misregistration artifacts on the temporal subtraction images, a nonlinear image warping technique for matching the previous image to the current one has been developed. Development of the temporal subtraction method originated with chest radiographs, with the method subsequently being applied to chest computed tomography (CT) and nuclear medicine bone scans. The usefulness of the temporal subtraction method for bone scans was demonstrated by an observer study in which reading times and diagnostic accuracy improved significantly. An additional prospective clinical study verified that the temporal subtraction image could be used as a "second opinion" by radiologists with negligible detrimental effects. ANN was first used in 1990 for computerized differential diagnosis of interstitial lung diseases in CAD. Since then, ANN has been widely used in CAD schemes for the detection and diagnosis of various diseases in different imaging modalities, including the differential diagnosis of lung nodules and interstitial lung diseases in chest radiography, CT, and position emission tomography/CT. It is likely that CAD will be integrated into picture archiving and

  9. MRI Diagnosis of Intracranial Hemorrhage : Experimental and Clinical Studies

    International Nuclear Information System (INIS)

    The purpose of this work was to improve the diagnosis of intracranial hemorrhage with MRI, and add knowledge about the newer sequences increasing in use to depict intra parenchymal bleeds, especially T2*-w GE sequences. We also compared the effect of magnetic field strengths. The sequences and field strengths were tested in animals. Then, the most effective technique was applied to patients with hematomas of different ages and with hematoma residuals. Occurrence of residuals of earlier, clinically silent, haemorrhages in patients with acute spontaneous hematoma or with suspected ischemic stroke were compared. Experimental studies: The MR detectability of small experimental haematomas in the brain and of blood in the cerebrospinal fluid (CSF) spaces of 30 rabbits was evaluated. MRI examinations were performed at determined intervals using different pulse sequences at two field strengths. The last MR images were compared to the formalin fixed brain sections and, in 16 rabbits, also to the histological findings. T2*-weighted GE sequences revealed all the intra parenchymal haematomas at 1.5 T: they were strongly hypointense. Their sizes became smaller but the signal patterns remained unchanged during the follow-up. The haematoma sizes and shapes corresponded well to gross pathology at acute and subacute stages. At chronic stage, the signal changes were larger than iron deposits. Blood in the CSF spaces was best detected at 1.5T with T2*-weighted GE sequences during the first 2 days. The FLAIR sequence often revealed blood in CSF spaces but not in the brain. SE sequences were rather insensitive. Imaging at 0.5 T was less effective than at 1.5 T. Clinical studies: All MR examinations on patients were performed at 1.5T, including T1- and T2-w SE, FLAIR, T2*-w GE sequences, and, occasionally, diffusion-w sequences. Sixty-six intra parenchymal hematomas were examined in the first clinical study. The hematomas were of different sizes and the ages varied from 8 hours to 3

  10. MRI Diagnosis of Intracranial Hemorrhage : Experimental and Clinical Studies

    Energy Technology Data Exchange (ETDEWEB)

    Alemany Ripoll, Montserrat

    2003-02-01

    The purpose of this work was to improve the diagnosis of intracranial hemorrhage with MRI, and add knowledge about the newer sequences increasing in use to depict intra parenchymal bleeds, especially T2*-w GE sequences. We also compared the effect of magnetic field strengths. The sequences and field strengths were tested in animals. Then, the most effective technique was applied to patients with hematomas of different ages and with hematoma residuals. Occurrence of residuals of earlier, clinically silent, haemorrhages in patients with acute spontaneous hematoma or with suspected ischemic stroke were compared. Experimental studies: The MR detectability of small experimental haematomas in the brain and of blood in the cerebrospinal fluid (CSF) spaces of 30 rabbits was evaluated. MRI examinations were performed at determined intervals using different pulse sequences at two field strengths. The last MR images were compared to the formalin fixed brain sections and, in 16 rabbits, also to the histological findings. T2*-weighted GE sequences revealed all the intra parenchymal haematomas at 1.5 T: they were strongly hypointense. Their sizes became smaller but the signal patterns remained unchanged during the follow-up. The haematoma sizes and shapes corresponded well to gross pathology at acute and subacute stages. At chronic stage, the signal changes were larger than iron deposits. Blood in the CSF spaces was best detected at 1.5T with T2*-weighted GE sequences during the first 2 days. The FLAIR sequence often revealed blood in CSF spaces but not in the brain. SE sequences were rather insensitive. Imaging at 0.5 T was less effective than at 1.5 T. Clinical studies: All MR examinations on patients were performed at 1.5T, including T1- and T2-w SE, FLAIR, T2*-w GE sequences, and, occasionally, diffusion-w sequences. Sixty-six intra parenchymal hematomas were examined in the first clinical study. The hematomas were of different sizes and the ages varied from 8 hours to 3

  11. Arrhythmogenic right ventricular cardiomyopathy, clinical manifestations, and diagnosis.

    Science.gov (United States)

    Haugaa, Kristina H; Haland, Trine F; Leren, Ida S; Saberniak, Jørg; Edvardsen, Thor

    2016-07-01

    This review aims to give an update on the pathogenesis, clinical manifestations, and diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC). Arrhythmogenic right ventricular cardiomyopathy is mainly an autosomal dominant inherited disease linked to mutations in genes encoding desmosomes or desmosome-related proteins. Classic symptoms include palpitations, cardiac syncope, and aborted cardiac arrest due to ventricular arrhythmias. Heart failure may develop in later stages. Diagnosis is based on the presence of major and minor criteria from the Task Force Criteria revised in 2010 (TFC 2010), which includes evaluation of findings from six different diagnostic categories. Based on this, patients are classified as having possible, borderline, or definite ARVC. Imaging is important in ARVC diagnosis, including both echocardiography and cardiac magnetic resonance imaging for detecting structural and functional abnormalities, but importantly these findings may occur after electrical alterations and ventricular arrhythmias. Electrocardiograms (ECGs) and signal-averaged ECGs are analysed for depolarization and repolarization abnormalities, including T-wave inversions as the most common ECG alteration. Ventricular arrhythmias are common in ARVC and are considered a major diagnostic criterion if originating from the RV inferior wall or apex. Family history of ARVC and detection of an ARVC-related mutation are included in the TFC 2010 and emphasize the importance of family screening. Electrophysiological studies are not included in the diagnostic criteria, but may be important for differential diagnosis including RV outflow tract tachycardia. Further differential diagnoses include sarcoidosis, congenital abnormalities, myocarditis, pulmonary hypertension, dilated cardiomyopathy, and athletic cardiac adaptation, which may mimic ARVC. PMID:26498164

  12. 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.

  13. Clinical application of positron emission tomography for diagnosis of dementia

    International Nuclear Information System (INIS)

    Clinical applications of PET studies for dementia are reviewed in this paper. At the mild and moderate stages of Alzheimer's disease (AD), glucose metabolism is reduced not only in the parietotemporal region but also in the posterior cingulate and precuneus. At the advanced stage of AD, there is also a metabolic reduction in the frontal region. In AD patients, glucose metabolism is relatively preserved in the pons, sensorimotor cortices, primary visual cortices, basal ganglia, thalamus and cerebellum. In patients with dementia with Lewy bodies, glucose metabolism in the primary visual cortices is reduced, and this reduction appears to be associated with the reduction pattern in AD patients. In patients with frontotemporal dementia, reduced metabolism in the frontotemporal region is the main feature of this disease, but reduced metabolism in the basal ganglia, and/or parietal metabolic reduction can be associated with the frontotemporal reduction. When corticobasal degeneration is associated with dementia, the reduction pattern of dementia is similar to the reduction pattern in AD and the hallmarks of diagnosing corticobasal degeneration associated with dementia are a reduced metabolism in the primary sensorimotor region and/or basal ganglia and an asymmetric reduction in the two hemispheres. FDG-PET is a very useful tool for the diagnosis of early AD and for the differential diagnosis of dementia. I also describe clinical applications of PET for the diagnosis of dementia in Japan. (author)

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

    International Nuclear Information System (INIS)

    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.

  15. 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

  16. 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.

  17. 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.

  18. 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.

  19. Intussusception in adults: Clinical characteristics, diagnosis and operative strategies

    Institute of Scientific and Technical Information of China (English)

    Savas Yakan; Cemil Caliskan; Ozer Makay; Ali Galip Denecl; Mustafa Ali Korkut

    2009-01-01

    AIM: To evaluate 20 adults with intussusception and to clarify the cause, clinical features, diagnosis, and management of this uncommon entity.METHODS: A retrospective review of patients aged >18 years with a diagnosis of intestinal intussusception between 2000 and 2008. Patients with rectal prolapse,prolapse of or around an ostomy and gastroenterostomy intussusception were excluded.RESULTS: There were 20 cases of adult intussusception.Mean age was 47.7 years. Abdominal pain, nausea,and vomiting were the most common symptoms. The majority of intussusceptions were in the small intestine (85%). There were three (15%) cases of colonic intussusception. Enteric intussusception consisted of five jejunojejunal cases, nine ileoileal, and four cases of ileocecal invagination. Among enteric intussusceptions,14 were secondary to a benign process, and in one of these, the malignant cause was secondary to metastatic lung adenocarcinoma. All colonic lesions were malignant. All cases were treated surgically.

  20. 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.

  1. 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.

  2. 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

  3. 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

  4. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  6. Herlyn-Werner-Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis

    OpenAIRE

    Zohra Ahmad; Ankur Goyal; Das, Chandan J.; Dipika Deka; Raju Sharma

    2013-01-01

    Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report here a 22-year-old female presenting with primary infertility where magnetic resonance imaging (MRI) suggested the diagnosis of HWWS with endometriosis. In a patient of infertility with endometriosis and unilateral renal agenesis, diagnosis o...

  7. Novel electrophysiological approaches to clinical epilepsy. Diagnosis and treatment

    International Nuclear Information System (INIS)

    Seizure onset zone (SOZ) is currently defined by ictal epileptiform discharges, which are most commonly recorded as regional low-voltage fast waves or repetitive spikes. Interictal epileptiform discharges, on the other hand, are not specific enough for SOZ as they are recorded at zones other than the SOZ; they are also recorded from areas that do not generate the ictal pattern and from areas to which ictal discharges propagate. Besides spikes and sharp waves, a novel index of human epileptogenicity has been investigated in association with wide-band electroencephalography (EEG) analysis. We primarily noted the following during clinical neurophysiological analysis for clinical epilepsy. Recent development of digital EEG technology enabled us to record wide-band EEG in a clinical setting. Thus, high frequency (>200 Hz) and low frequency (<1 Hz) components can be reliably recorded using subdural electrodes. Direct current shift, slow shift, ripple, and fast ripple can be well delineated, and they will be potentially useful in the diagnosis and management of epileptic patients. Fiber tractography (morphological parameter) and cortico-cortical-evoked potentials with single cortical stimulation (electrophysiological parameter) elucidated cortico-cortical connections in human brain. The data thus obtained can help us understand the mechanism of seizure propagation and normal cortical functional connectivity. Non-invasive simultaneous recording of EEG and functional magnetic resonance imaging (fMRI) provided information on the roles of deep brain structures associated with scalp-recorded epileptiform discharges. Interventional neurophysiology can shed light on the non-pharmacological treatment of epilepsy. In this report, we discuss these novel electrophysiological approaches to the diagnosis and treatment of clinical epilepsy. (author)

  8. Imperforate hymen presenting as vaginal cyst in a 16-month-old child - considerations for an early diagnosis.

    Science.gov (United States)

    Glavan, Nedeljka; Haller, Herman; Brnčić-Fischer, Alemka; Glavan-Gačanin, Lana; Miletić, Damir; Jonjić, Nives

    2016-02-01

    Imperforate hymen is a congenital anomaly of female external genitalia, which is mostly diagnosed in puberty, at the age of 9-13 years, or very rarely at a younger age. Clinical picture varies from abdominal pain and low back pain to acute urinary retention. We describe a case of a 16-month-old female infant where the imperforate hymen presented as a vaginal cyst. The cyst was first observed by the patient's mother, although the child had been examined by a paediatrician on several occasions after birth. Complete workup performed for differential diagnosis, mostly to exclude other reproductive system anomalies, led to the final diagnosis of imperforate hymen. The aim of this report is to emphasise the necessity of thorough examination of genitalia in female newborns in order to avoid possible complications associated with this diagnosis later in life, as well as other, more severe differential diagnostic anomalies. PMID:26659454

  9. Acute kidney injury: from clinical to molecular diagnosis.

    Science.gov (United States)

    Ronco, Claudio

    2016-01-01

    The RIFLE classification was introduced in 2004 to describe the presence of acute kidney injury (AKI) and to define its clinical stage, based upon the serum creatinine level and urine output. The same criteria, although slightly modified, are used in the other scoring systems AKIN and KDIGO. Mortality and morbidity remain high in AKI, suggesting that current diagnostic methods are suboptimal, poorly accurate, and often timely inadequate in detecting the presence of early kidney injury. Conversely, a growing body of evidence indicates that new AKI biomarkers can be used to both rule out AKI and to assess high-risk conditions or the presence of subclinical forms. Neutrophil gelatinase-associated lipocalin or cell cycle arrest biomarkers seem to be sensitive and specific enough to be used in conjunction with existing markers of AKI for better classifying renal injury as well as dysfunction. Improvements in diagnosis, risk identification, stratification, prognosis, and therapeutic monitoring may improve prevention and protection from organ damage and help to identify patients at risk, allowing individualized therapy. In this view, we may say that AKI diagnosis has finally moved from clinical to molecular level with potential benefits for the patients because similar progress has been shown in other disciplines. PMID:27384344

  10. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  12. Clinical Scoring Value for Diagnosis of Streptococcal Pharyngitis

    Directory of Open Access Journals (Sweden)

    N.M. Noori

    2011-07-01

    Full Text Available Introduction & Objective: β- hemolytic group A streptococcus is the most common cause of acute bacterial pharyngitis in children.Due to the high incidence of this disease and it's difficult diagnosis , we decided to compare clinical scoring and throat cultures for diagnosis of streptococcal pharyngitis. Materials & Methods: This cross-sectional analytic study was done on 3-16 year old patients reffered to pediatric clinic with complaint of sore throat. After taking history and physical examination, scoring was done based on clinical findings.The patients with chronic disease or those who received antibiotics or other drugs were eliminated from the study. Analysis was performed using SPSS. Score for each patient was calculated and compared with the result of throat cultures. Sensitivity, specificity, positive and negative predictive values for each clinical finding were determined. Results: 315 patients out of 350 patients with complaint of sore throat referred to the clinic had fever of whom 51.1% had positive throat culture with 51.1% sensitivity and 77% specifity (p<0.01. 127 patients had pharyngeal petechia of whom 67% had positive throat culture with 66.9% sensitivity and 73.5% specifity (p<0.002. 105 children had pharyngeal exudates of whom 65.7% had positive throat culture with 65.7% sensitivity and 58.3% specifity (p<0.001. Anterior cervical lymphadenopathy was detected in 293 patients of whom 53.24% had positive throat culture with 53.2% sensitivity and 73.8% specifity (p<0.002. 182 patients had no signs of upper respiratory infection, among them 65.9% had positive throat culture with 65.9% sensitivity and 70.4% specifity (p<0.001. 130 patients had sore throat, 66.3% of them had positive throat culture with 62.3% sensitivity and 59% specifity (p<0.001. 310 patients had pharyngeal erythema of which 51.6% had positive throat culture with 57.5% sensitivity and 22.7% specifity (p<0.02. 99 children had gastrointestinal signs, 66.14% had

  13. 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.

  14. Feline asthma syndrome: a retrospective study of the clinical presentation in 29 cats

    International Nuclear Information System (INIS)

    Feline asthma syndrome (FAS) is a clinical condition characterised by recurrent bouts of coughing, wheezing and, or, dyspnoea. While the aetiology is unproven, the condition is believed to involve a type I immediate hypersensitivity reaction to inhaled allergens. In this paper the clinical data from 29 cats, where a diagnosis of FAS was made, are assessed retrospectively. The most common clinical presentation was recurrent bouts of coughing (n = 26) and dyspnoea (n = 21). Radiographic changes were noted in 24 cats, which included increased bronchial (n = 5), interstitial (n = 7) and mixed (n = 12) (bronchial and interstitial) patterns. Right middle lung lobe collapse was noted in two cats. Abnormal bronchial cytology was present in 16 cats. A predominant eosinophilic sample was collected in only three cats. There were minimal changes in differential white cell counts, and mild eosinophilia was found in only five cats. Prednisolone alone was the most effective therapy, although avoidance of putative aeroallergens and antibacterial therapy was effective in some. On the basis of the data from these cases it would appear that the diagnosis of FAS depends largely on the clinical presentation and radiographic findings. The value of ancillary tests in the diagnosis of FAS appears to be limited

  15. 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.

  16. AMELANOTIC MELANOMA WITH ATYPICAL CLINICAL PRESENTATION AND MULTIPLE METASTASIS

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    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. 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.

  18. [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...

  19. Patient involvement in problem presentation and diagnosis delivery in primary care.

    Science.gov (United States)

    Ijäs-Kallio, Taru; Ruusuvuori, Johanna; Peräkylä, Anssi

    2010-01-01

    This article reports a conversation analytic study of primary care physicians' orientations to different types of patients' problem presentation. Four types of problem presentation are examined: 1. symptoms only; 2. candidate diagnosis; 3. diagnosis implicative symptom description; and 4. candidate diagnosis as background information. The analysis shows that both in receiving the problem presentation at the beginning of the visit and in delivering a diagnosis later on, doctors address the patients' presentations which involved or implied a candidate diagnosis. In contrast, following a symptoms-only type of problem presentation such references predominantly are not made. The study suggests that patients' problem presentation have a crucial role in shaping the doctor's communication patterns also in the phases of consultation in which the patient's active participation is of lesser significance, such as the diagnostic phase. The findings are discussed in relation to the question of patient participation in the medical consultation. The data consist of 86 video-recorded Finnish primary care consultations for upper respiratory tract infection including both child and adult patients. PMID:22049636

  20. Clinical diagnosis versus autopsy findings in polytrauma fatalities

    Directory of Open Access Journals (Sweden)

    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.

  1. 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.

  2. 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

  3. An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.

    Science.gov (United States)

    Verhagen, Judith M A; Oostdijk, Wilma; Terwisscha van Scheltinga, Cecilia E J; Schalij-Delfos, Nicoline E; van Bever, Yolande

    2014-09-01

    Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance, skeletal anomalies, a variety of visceral malformations and abnormal dermatoglyphic patterns. We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral microphthalmia, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome. This report demonstrates that clinical follow-up and molecular genetic testing can be useful for establishing the correct diagnosis. PMID:24862881

  4. 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.

  5. 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.)

  6. Surface Plasmon Resonance for Cell-Based Clinical Diagnosis

    Directory of Open Access Journals (Sweden)

    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.

  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. Clinical presentation of pili torti--Case report.

    Science.gov (United States)

    Yang, Jeane Jeong Hoon; Cade, Karine Valentim; Rezende, Flavia Cury; Pereira, José Marcos; Pegas, José Roberto Pereira

    2015-01-01

    Pili torti also known as 'twisted hairs' (Latin: pili=hair; torti=twisted) is a rare, congenital or acquired clinical presentation, in which the hair shaft is flattened at irregular intervals and twisted 180º along its axis. It is clinically characterized by fragile, brittle, coarse and lusterless hairs, due to uneven light reflection on the twisted hair surface. Pili torti may be associated with neurological abnormalities and ectodermal dysplasias. There is no specific treatment for this condition, but it may improve spontaneously after puberty. We report a case of pili torti in a child who presented fragile, brittle, difficult to comb hair. The patient had no comorbidities. PMID:26312667

  9. Delayed Diagnosis, Leprosy Reactions, and Nerve Injury Among Individuals With Hansen's Disease Seen at a United States Clinic.

    Science.gov (United States)

    Leon, Kristoffer E; Jacob, Jesse T; Franco-Paredes, Carlos; Kozarsky, Phyllis E; Wu, Henry M; Fairley, Jessica K

    2016-03-01

    Background.  Hansen's disease (HD), or leprosy, is uncommon in the United States. We sought to describe the characteristics of patients with HD in a US clinic, including an assessment of delays in diagnosis and HD reactions, which have both been associated with nerve damage. Methods.  A retrospective chart review was conducted on patients seen at an HD clinic in the southern United States between January 1, 2002 and January 31, 2014. Demographic and clinical characteristics were summarized, including delays in diagnosis, frequency of reactions, and other complications including peripheral neuropathy. Results.  Thirty patients were seen during the study time period. The majority of patients were male (73%) and had multibacillary disease (70%). Brazil, Mexico, and the United States were the most frequent of the 14 countries of origin. Hansen's disease "reactions", severe inflammatory complications, were identified among 75% of patients, and nerve damage was present at diagnosis in 36% of patients. The median length of time between symptom onset and diagnosis was long at 12 months (range, 1-96), but no single factor was associated with a delay in diagnosis. Conclusions.  The diagnosis of HD was frequently delayed among patients referred to our US clinic. The high frequency of reactions and neuropathy at diagnosis suggests that further efforts at timely diagnosis and management of this often unrecognized disease is needed to prevent the long-term sequelae associated with irreversible nerve damage. PMID:27186586

  10. ACE-I Angioedema: Accurate Clinical Diagnosis May Prevent Epinephrine-Induced Harm

    OpenAIRE

    R. Mason Curtis; Sarah Felder; Rozita Borici-Mazi; Ian Ball

    2016-01-01

    Introduction: Upper airway angioedema is a life-threatening emergency department (ED) presentation with increasing incidence. Angiotensin-converting enzyme inhibitor induced angioedema (AAE) is a non-mast cell mediated etiology of angioedema. Accurate diagnosis by clinical examination can optimize patient management and reduce morbidity from inappropriate treatment with epinephrine. The aim of this study is to describe the incidence of angioedema subtypes and the management of AAE. We evaluat...

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

    Directory of Open Access Journals (Sweden)

    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

  12. Contribution of Transjugular Liver Biopsy in Patients with the Clinical Presentation of Acute Liver Failure

    International Nuclear Information System (INIS)

    Purpose. Acute liver failure (ALF) treated with conservative therapy has a poor prognosis, although individual survival varies greatly. In these patients, the eligibility for liver transplantation must be quickly decided. The aim of this study was to assess the role of transjugular liver biopsy (TJLB) in the management of patients with the clinical presentation of ALF. Methods. Seventeen patients with the clinical presentation of ALF were referred to our institution during a 52 month period. A TJLB was performed using the Cook Quick-Core needle biopsy. Clinical data, procedural complications, and histologic findings were evaluated. Results. Causes of ALF were virus hepatitis B infection in 7 patients, drug toxicity in 4, mushroom in 1, Wilson's disease in 1, and unknown origin in 4. TJLB was technically successful in all patients without procedure-related complications. Tissue specimens were satisfactory for diagnosis in all cases. In 14 of 17 patients the initial clinical diagnosis was confirmed by TJLB; in 3 patients the initial diagnosis was altered by the presence of unknown cirrhosis. Seven patients with necrosis <60% were successfully treated with medical therapy; 6 patients with submassive or massive necrosis (≥85%) were treated with liver transplantation. Four patients died, 3 had cirrhosis, and 1 had submassive necrosis. There was a strict statistical correlation (r = 0.972, p < 0.0001) between the amount of necrosis at the frozen section examination and the necrosis found at routine histologic examination. The average time for TJLB and frozen section examination was 80 min. Conclusion. In patients with the clinical presentation of ALF, submassive or massive liver necrosis and cirrhosis are predictors of poor prognosis. TLJB using an automated device and frozen section examination can be a quick and effective tool in clinical decision-making, especially in deciding patient selection and the best timing for liver transplantation

  13. 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.

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

    CERN Document Server

    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...

  15. Possible fatal acetaminophen intoxication with atypical clinical presentation.

    Science.gov (United States)

    De-Giorgio, Fabio; Lodise, Maria; Chiarotti, Marcello; d'Aloja, Ernesto; Carbone, Arnaldo; Valerio, Luca

    2013-09-01

    Acetaminophen or paracetamol, a commonly used over-the-counter analgesic, is known to elicit severe adverse reactions when taken in overdose, chronically at therapeutic dosage or, sporadically, following single assumptions of a therapeutic dose. Damage patterns including liver damage and, rarely, acute tubular necrosis or a fixed drug exanthema. We present a case of fatal acetaminophen toxicity with postmortem blood concentration 78 μg/mL and unusual clinical features, including a visually striking and massive epidermolysis and rhabdomyolysis, disseminated intravascular coagulation and myocardial ischemia. This case is compared with the most similar previous reports in terms of organ damage, clinical presentation, and cause of death. We conclude that a number of severe patterns of adverse effects to acetaminophen are emerging that were previously greatly underestimated, thus questioning the adequacy of the clinical spectrum traditionally associated with acetaminophen intoxication and leading to the need to review this spectrum and the associated diagnostic criteria. PMID:23822653

  16. Oral malignant melanoma: a rare case with unusual clinical presentation

    OpenAIRE

    Ali, Elneel Ahmed Mohamed; Karrar, Musadak Ali; El-Siddig, Abeer Abdalla; Zulfu, Azza

    2015-01-01

    Primary Oral malignant melanoma is a rare tumor with an indigent prognosis. This is a case report of 47-year-old Sudanese female diagnosed as Oral malignant melanoma of the mandible with an unusual pattern of growth and clinical presentation. Furthermore, a possibility of intraosseous origin is suggested.

  17. 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.

  18. Clinical application of FDG-PET for cancer diagnosis

    International Nuclear Information System (INIS)

    Positron emission tomography using 18F-FDG is accepted in clinical medicine as an imaging tool for the diagnosis and assessment of a large variety of cancers. Medicare reimbursement for these studies has been accepted in Japan since 2002. The number of requests for FDG-PET examinations has been increasing in institutions where a PET device is installed. PET is considered to be especially effective in re-staging and detecting recurrence of disease. In order to evaluate PET images properly, it is important to be familiar with the various physiological uptake patterns of FDG, and also to be alert to the possibility of false-positive and false-negative findings. Quantitative values obtained in PET images are widely used for the differentiation of benign and malignant tumors and for monitoring treatment; however, it should be kept in mind that these values may be influenced by many factors. To complement the poorer spatial resolution of PET, a combined PET/CT scanner has been created and its clinical application has begun. It is expected that this imaging tool will be useful and have a great effect on patient management. (author)

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

    Science.gov (United States)

    Aracki-Trenkić, Aleksandra; Stojanov, Dragan; Trenkić, Milan; Radovanović, Zoran; Ignjatović, Jelena; Ristić, Saša; Trenkić-Bozinović, Marija

    2016-08-01

    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. PMID:27483175

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

    Directory of Open Access Journals (Sweden)

    Aleksandra Aracki-Trenkić

    2016-06-01

    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.

  1. Herlyn-Werner-Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis

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    Zohra Ahmad

    2013-01-01

    Full Text Available Herlyn-Werner-Wunderlich syndrome (HWWS, characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report here a 22-year-old female presenting with primary infertility where magnetic resonance imaging (MRI suggested the diagnosis of HWWS with endometriosis. In a patient of infertility with endometriosis and unilateral renal agenesis, diagnosis of HWWS should be suspected and MRI is the investigation of choice for such anomalies.

  2. Herlyn–Werner–Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis

    Science.gov (United States)

    Ahmad, Zohra; Goyal, Ankur; Das, Chandan J; Deka, Dipika; Sharma, Raju

    2013-01-01

    Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report here a 22-year-old female presenting with primary infertility where magnetic resonance imaging (MRI) suggested the diagnosis of HWWS with endometriosis. In a patient of infertility with endometriosis and unilateral renal agenesis, diagnosis of HWWS should be suspected and MRI is the investigation of choice for such anomalies. PMID:24347855

  3. Herlyn-Werner-Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis.

    Science.gov (United States)

    Ahmad, Zohra; Goyal, Ankur; Das, Chandan J; Deka, Dipika; Sharma, Raju

    2013-07-01

    Herlyn-Werner-Wunderlich syndrome (HWWS), characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis, is an uncommon combined Mullerian and mesonephric duct anomaly, and its presentation in adulthood is even rarer. We report here a 22-year-old female presenting with primary infertility where magnetic resonance imaging (MRI) suggested the diagnosis of HWWS with endometriosis. In a patient of infertility with endometriosis and unilateral renal agenesis, diagnosis of HWWS should be suspected and MRI is the investigation of choice for such anomalies. PMID:24347855

  4. Idiopathic granulomatous mastitis; Clinical presentation, radiological features and treatmant

    International Nuclear Information System (INIS)

    To determine the clinical characteristic, clinical presentations and radiological features of diopathic granulomatous mastitis, and the best treatment approaches of this clinical entity. Between 1996 and 2003 the files and histopathology reports of 25 patients with granulomatous mastitis at King Abdul-Aziz University Hospital Jeddah, Kindom of Saudi Arabia were reviewed. The data were analyzed and a Medline search was carried out from 1970 to 2003 to review relevant cases. The age of patients ranged from 24-66 years and the mean age was 36.6+-9.43 years. All patients were females. The most common clinical presentation was palpable tender mass. The most common mammographic finding was ill-defined mass. However, mixed hypo- and hyper-echogenic lesions with tubular connections were the common ultrasonic findings. Treatment approaches were conservative or surgical excision or steroid. Conservative treatment associated with the higher rate of complications, while treatment with steroid showed complete remission of disease. Idiopathic granulomatous mastitis is a rare, benign breast disease that is usually underestimated or misdiagnosed. The clinical and radiological features resemble those of infectious mastitis or breast carcinoma. Early recognition and initiation of steroid treatment will result in complete remission of the disease and prevent complications. (author)

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

    Directory of Open Access Journals (Sweden)

    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.

  6. [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.

  7. ACG Clinical Guideline: Diagnosis, Treatment, and Prevention of Acute Diarrheal Infections in Adults.

    Science.gov (United States)

    Riddle, Mark S; DuPont, Herbert L; Connor, Bradley A

    2016-05-01

    Acute diarrheal infections are a common health problem globally and among both individuals in the United States and traveling to developing world countries. Multiple modalities including antibiotic and non-antibiotic therapies have been used to address these common infections. Information on treatment, prevention, diagnostics, and the consequences of acute diarrhea infection has emerged and helps to inform clinical management. In this ACG Clinical Guideline, the authors present an evidence-based approach to diagnosis, prevention, and treatment of acute diarrhea infection in both US-based and travel settings. PMID:27068718

  8. 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.

  9. Two Obese Patients with Presumptive Diagnosis of Anaphylactoid Syndrome of Pregnancy Presenting at a Community Hospital.

    Science.gov (United States)

    Kradel, Brian K; Hinson, Scarlett B; Smith, Carr J

    2016-01-01

    BACKGROUND Anaphylactoid syndrome of pregnancy (ASP) is a rare but extremely serious complication, with an estimated incidence in North America of 1 in 15 200 deliveries. Despite its rarity, ASP is responsible for approximately 10% of all childbirth-associated deaths in the United States. At present, there is no validated biomarker or specific set of risk factors sufficiently predictive of ASP risk to incorporate into clinical practice. Toward the goal of developing a methodology predictive of an impending ASP event for use by obstetricians, anesthesiologists, and other practitioners participating in infant deliveries, physicians encountering an ASP event have been encouraged to report the occurrence of a case and its biologically plausible risk factors.  CASE REPORT Herein, we report on 2 patients who presented with a presumptive diagnosis of ASP to the delivery unit of a community hospital. Patient One was a 21-year-old, obese (5'11" tall, 250 lbs., BMI 34.9) white female, 1 pregnancy, no live births (G1P0), estimated gestational age (EGA) 40.2 weeks. Patient Two was a 29-year-old, obese (5'7" tall, 307 lbs., BMI 48.1) Hispanic female, second pregnancy, with 1 previous live birth via C-section (G2P1-0-0-1). Her pregnancy was at gestational age 38 weeks plus 2 days. CONCLUSIONS Patient One had 2 possible risk factors: administration of Pitocin to induce labor and post-coital spotting from recent intercourse. Patient Two suffered premature rupture of the placental membranes. Both Patient One and Patient Two had very high body mass indices (BMIs), at the 97th and 99th percentiles, respectively. In the relatively few cases of anaphylactoid syndrome of pregnancy described to date, this is the first report of a possible association with high BMI. PMID:27363628

  10. Diagnosis of streptococcal pharyngotonsillitis in children and adolescents: clinical picture limitations

    Directory of Open Access Journals (Sweden)

    Aurelino Rocha Barbosa Júnior

    2014-12-01

    Full Text Available OBJECTIVE: To assess the utility of clinical features for diagnosis of streptococcal pharyngotonsillitis in pediatrics.METHODS: A total of 335 children aged 1-18 years old and presenting clinical manifestations of acute pharyngotonsillitis (APT were subjected to clinical interviews, physical examinations, and throat swab specimen collection to perform cultures and latex particle agglutination tests (LPATs for group A streptococcus (GAS detection. Signs and symptoms of patients were compared to their throat cultures and LPATs results. A clinical score was designed based on the multivariate logistic regression analysis and also was compared to throat cultures and LPATs results. Positive throat cultures and/or LPATs results were used as a reference standard to establish definitive streptococcal APT diagnosis.RESULTS: 78 children (23.4% showed positivity for GAS in at least one of the two diagnostic tests. Coryza absence (odds ratio [OR]=1.80; p=0.040, conjunctivitis absence (OR=2.47; p=0.029, pharyngeal erythema (OR=3.99; p=0.006, pharyngeal exudate (OR=2.02; p=0.011, and tonsillar swelling (OR=2.60; p=0.007 were significantly associated with streptococcal pharyngotonsilitis. The highest clinical score, characterized by coryza absense, pharyngeal exudate, and pharyngeal erythema had a 45.6% sensitivity, a 74.5% especificity, and a likelihood ratio of 1.79 for streptococcal pharyngotonsilitis.CONCLUSIONS: Clinical presentation should not be used to confirm streptococcal pharyngotonsilitis, because its performance as a diagnostic test is low. Thus, it is necessary to enhance laboratory test availability, especially of LPATs that allow an acurate and fast diagnosis of streptococcal pharyngotonsilitis.

  11. Clinical Presentation of Anxiety in Parkinson's Disease: A Scoping Review.

    Science.gov (United States)

    Lutz, Sara G; Holmes, Jeffrey D; Ready, Emily A; Jenkins, Mary E; Johnson, Andrew M

    2016-07-01

    Up to 40% of all individuals with Parkinson's disease (PD) are estimated to experience anxiety that interferes with daily functioning. This article describes research regarding the presentation of anxiety in PD and the influence anxiety has on participation in this population. A scoping review identified 1,635 articles, of which 49 met the inclusion criteria. This review identified that anxiety in PD is often associated with a range of clinical correlates related to demographic and clinical characteristics (age, gender, disease stage, duration, progression), motor symptoms (tremor, bradykinesia, dystonia, freezing of gait, symptom severity), treatment-related complications (on/off fluctuations, on with dyskinesia, unpredictable off), and non-motor symptoms (sleep abnormalities, fatigue, cognitive impairment, depression). These findings can be used to increase clinicians' awareness toward the specific clinical correlates linked to anxiety in PD so that mental health concerns can be detected and addressed more readily in practice. PMID:27618849

  12. 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

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

    Science.gov (United States)

    Abdel-Rahman, Nader; Izhakian, Shimon; Wasser, Walter G; Fruchter, Oren; Kramer, Mordechai R

    2015-01-01

    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. PMID:26819795

  14. 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.

  15. 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.

  16. Neuroblastoma presenting clincally as hip osteomyelitis: a ''signature'' diagnosis on skeletal scintigraphy

    International Nuclear Information System (INIS)

    At their initial emergency room presentation, four children were thought to have hip osteomyelitis. Skeletal scintigraphy, however, demonstrated multiple areas of abnormal tracer uptake in the bones in all four, and in three there was abnormal uptake in a soft tissue abdominal mass. The skeletal scintigraphic findings promptly led to the correct diagnosis of neuroblastoma. (orig.)

  17. Neuroblastoma presenting clincally as hip osteomyelitis: a ``signature`` diagnosis on skeletal scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Applegate, K. [Div. of Nuclear Medicine, Dept. of Radiology, Children`s Hospital, Boston, MA (United States); Connolly, L.P. [Div. of Nuclear Medicine, Dept. of Radiology, Children`s Hospital, Boston, MA (United States); Treves, S.T. [Div. of Nuclear Medicine, Dept. of Radiology, Children`s Hospital, Boston, MA (United States)

    1995-11-01

    At their initial emergency room presentation, four children were thought to have hip osteomyelitis. Skeletal scintigraphy, however, demonstrated multiple areas of abnormal tracer uptake in the bones in all four, and in three there was abnormal uptake in a soft tissue abdominal mass. The skeletal scintigraphic findings promptly led to the correct diagnosis of neuroblastoma. (orig.)

  18. Primary amyloidosis presenting as an isolated mediastinal mass: diagnosis by fine needle biopsy.

    OpenAIRE

    Hiller, N.; FISHER, D.; Shmesh, O.; Gottschalk-Sabag, S.; Dollberg, M.

    1995-01-01

    Intrathoracic amyloidosis affecting the lungs or mediastinum is rare, and mediastinal lymphadenopathy in the absence of pulmonary involvement is even more rare. The case history is presented of a previously healthy man who developed nodular mediastinal amyloidosis without pulmonary involvement. Diagnosis was made by percutaneous fine needle biopsy.

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

    Directory of Open Access Journals (Sweden)

    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.

  20. Secondary acute pancreatitis to hypertriglyceridemia: presentation of two clinical cases

    International Nuclear Information System (INIS)

    The acute pancreatitis is a reversible inflammatory process. Hypertriglyceridemia as etiology of the acute pancreatitis reaches frequencies between 1,3 to 11% according to literature when the triglycerides levels of reach values over 1000 mg/dl nevertheless hypertriglyceridemia is observed in 12 to 39% of the acute pancreatitis like factor associate. The objective of the medical treatment is to increase the activity of lipoproteinlipasa and to increase the degradation of vhylomicrones; diminishing therefore the serum triglycerides values of a levels smaller to 500 even to less of 200 mg/dl if is possible with different strategies among of them the insulin. In the present article, we presented two clinical cases of severe pancreatitis induced by hypertriglyceridemia, handled with therapy of insulin infusion with suitable evolution and clinical answer given by significant diminution of the levels of triglycerides, 48 hours post treatment

  1. 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.

  2. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.)

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

    International Nuclear Information System (INIS)

    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.)

  6. 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.

  7. 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...

  8. Acral pityriasis versicolor – A rare clinical presentation

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  10. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    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)

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

    International Nuclear Information System (INIS)

    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 32P 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)

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

    Directory of Open Access Journals (Sweden)

    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.

  14. 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

  15. [Reestablishment of the clinical diagnosis in vascular acrosyndromes].

    Science.gov (United States)

    Vayssairat, M; Baudot, N; Priollet, P

    1988-01-01

    Raynaud's phenomenon (RP) is very frequent with a prevalence of 4% in a general population. Its evaluation has to be simple noninvasive and cheap. The only difficulty is to differentiate early primary RP from secondary RP that may evolve principally to a connective tissue disorder. Two questions have to be solved 1--Is it a primary or a secondary RP? 2--In case of secondary RP how to obtain a more precise diagnosis? Clinical examination alone is able to give a response for question 1 with 76% of reliability. Information has to be collected about sex, age at onset, occupation, uni or bilaterality of the disability, thumb involvement and drug consumption. Physician has to examine skin carefully, pulses, arterial bruits, heart, lungs, the time of return of color of digits after squeezing the blood out of the hand by clenching with and without compression of the radial and/or the cubital artery. Inquiries should be made about visceral involvement: oesophageal dysfunction, dyspnea, sicca syndrome, thyroiditis or polyneuritis that rule out a primary form of Raynaud's phenomenon. PMID:3346618

  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. Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

    Directory of Open Access Journals (Sweden)

    Ka Chandran

    2005-06-01

    Full Text Available Abstract Background Hereditary hemochromatosis (HH is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE, and of its main mutation (C282Y, has radically altered the way to diagnose this disease. The aim of this study was to assess the impact of the HFE gene discovery on the clinical presentation and epidemiology of HH. Methods We studied our cohort of 415 patients homozygous for the C282Y allele and included in a phlebotomy program in a blood centre in western Brittany, France. Results In this cohort, 56.9% of the patients were male and 21.9% began their phlebotomy program before the implementation of the genetic test. A significant decrease in the sex ratio was noticed following implementation of this DNA test, from 3.79 to 1.03 (p -5, meaning that the proportion of diagnosed females relatives to males greatly increased. The profile of HH patients at diagnosis changed after the DNA test became available. Serum ferritin and iron values were lower and there was a reduced frequency of clinical signs displayed at diagnosis, particularly skin pigmentation (20.1 vs. 40.4%, OR = 0.37, p Conclusion This study highlights the importance of the HFE gene discovery, which has simplified the diagnosis of HH and modified its clinical presentation and epidemiology. This study precisely measures these changes. Enhanced diagnosis of HFE-related HH at an early stage and implementation of phlebotomy treatment are anticipated to maintain normal life expectancy for these patients.

  18. Application of a diagnosis-based clinical decision guide in patients with neck pain

    Directory of Open Access Journals (Sweden)

    Murphy Donald R

    2011-08-01

    Full Text Available Abstract Background Neck pain (NP is a common cause of disability. Accurate and efficacious methods of diagnosis and treatment have been elusive. 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 guide in applying 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 NP. Methods Demographic, diagnostic and baseline outcome measure data were gathered on a cohort of NP patients examined by one of three examiners trained in the application of the DBCDG. Results Data were gathered on 95 patients. Signs of visceral disease or potentially serious illness were found in 1%. Centralization signs were found in 27%, segmental pain provocation signs were found in 69% and radicular signs were found in 19%. Clinically relevant myofascial signs were found in 22%. Dynamic instability was found in 40%, oculomotor dysfunction in 11.6%, fear beliefs in 31.6%, central pain hypersensitivity in 4%, passive coping in 5% and depression in 2%. 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, oculomotor dysfunction, poor coping and depression, correlations and patterns among the diagnostic components of the DBCDG as well as inter-examiner reliability, validity and efficacy of treatment based on the DBCDG.

  19. 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.

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

    International Nuclear Information System (INIS)

    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.)

  1. 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.)

  2. Hereditary anaemias: genetic basis, clinical features, diagnosis, and treatment*

    OpenAIRE

    1982-01-01

    The hereditary anaemias present a major genetic health problem that contributes considerably to childhood mortality and morbidity in many developing countries. This article summarizes recent scientific and technical advances in knowledge concerning the genes involved and their interaction to produce major haemoglobinopathies, the clinical pictures of these conditions, and their diagnostic criteria. Though there is no definitive cure, supportive treatment for the haemoglobinopathies has improv...

  3. Combining multiple serum biomarkers in tumor diagnosis: A clinical assessment

    OpenAIRE

    Li, Xin; LU, JUN; Ren, Hui; CHEN, TIANJUN; Gao, Lin; DI, LIGAI; SONG, ZHUCUI; Zhang, Ying; Yang, Tian; THAKUR, ASMITANANDA; Zhou, Shu-Feng; Yin, Yanhai; Chen, Mingwei

    2012-01-01

    The present study aimed to assess the diagnostic/prognostic value of various clinical tumor markers, including carcinoembryonic antigen (CEA), neuron-specific enolase (NSE), cytokeratin 19 (CYFRA21-1), α-fetoprotein (AFP), carbohydrate antigen-125 (CA-125), carbohydrate antigen-19.9 (CA-19.9) and ferritin, individually or in combination. The electro-chemiluminescence immunization method was performed to detect the levels of seven tumor markers in 560 cancer patients and 103 healthy subjects f...

  4. Lichen sclerosus: a potpourri of misdiagnosed cases based on atypical clinical presentations

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    Ventolini G

    2015-05-01

    Full Text Available Gary Ventolini, Ravi Patel, Robert Vasquez Texas Tech University Health Sciences Center Permian Basin, Odessa, TX, USA Objective: Lichen sclerosus (LS is a chronic progressive inflammatory autoimmune-induced disease that primarily affects the epidermis and dermis of the external genital-anal region. Intense and recalcitrant pruritus is the hallmark of LS. Physical exam reveals thinning, hyperkeratosis, and parchment-like appearance. However, the classic symptom and signs of LS may not always be present and patients may be asymptomatic for pruritus. Hence, we describe 15 misdiagnosed cases with atypical clinical presentations. We believe that the absence of pruritus contributed to their initial misdiagnosis. The purpose of this paper is to increase awareness of atypical presentations of LS. Methods: Data base review of de-identified clinical case pictures was performed. All patients had histopathology-confirmed diagnoses of LS. The data base file contains 800 cases of vulvovaginal disorders. The Institutional Review Board (IRB considered that searching a de-identified data base of pictures did not require IRB approval. Results: We identified 15 different atypical clinical cases. Patient ages were 18–75 years old. These patients were asymptomatic for pruritus and were misdiagnosed before they presented to the vulvovaginal specialized clinic. Conclusion: Fifteen patients asymptomatic for pruritus with histopathology-confirmed diagnosis of LS were identified. They illustrate atypical clinical presentations that LS may have. Keywords: vulvovaginal, vulvar, atypical, lichen sclerosus, asymptomatic

  5. Free Recall Episodic Memory Performance Predicts Dementia Ten Years prior to Clinical Diagnosis: Findings from the Betula Longitudinal Study

    OpenAIRE

    Boraxbekk, Carl-Johan; Lundquist, Anders; Nordin, Annelie; Nyberg, Lars; Nilsson, Lars-Göran; Adolfsson, Rolf

    2015-01-01

    Background/Aims: Early dementia diagnosis is a considerable challenge. The present study examined the predictive value of cognitive performance for a future clinical diagnosis of late-onset Alzheimer's disease or vascular dementia in a random population sample. Methods: Cognitive performance was retrospectively compared between three groups of participants from the Betula longitudinal cohort. Group 1 developed dementia 11-22 years after baseline testing (n = 111) and group 2 after 1-10 years ...

  6. 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.

  7. 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 < 0.001 (hypertension) P < 0.015 (diabetes mellitus)). Marital and relationship problems were found to significantly affect Chinese women aged 15-30 years (P = 0.019). In terms of the clinical presentation of depression among 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.

  8. [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.

  9. Acute Psychosis as Major Clinical Presentation of Legionnaires' Disease.

    Science.gov (United States)

    Coentre, Ricardo; Silva-Dos-Santos, Amílcar; Talina, Miguel Cotrim

    2016-01-01

    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. PMID:27547478

  10. 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.

  11. 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%.

  12. 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.

  13. 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

  14. 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

  15. 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

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

    Directory of Open Access Journals (Sweden)

    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

  17. Juvenile nasopharyngeal angiofibroma: Clinical diagnosis and treatment experience

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    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. 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.

  19. 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.

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

    Science.gov (United States)

    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.

  1. Correlation between diagnosis of depression and symptoms present in primary care patients.

    Science.gov (United States)

    Olivan-Blázquez, Bárbara; Rubio-Aranda, Encarnación; García-Sanz, Olga; Magallón-Botaya, Rosa

    2016-01-01

    Depression is a chronic disease with a high prevalence that normally is episodic and an average episodic duration of 16 weeks. No analyses that evaluate the correlation between the evolution of the episode and its appearance have been found. The aim of this study is to analyze the correlation between symptomatic progression (appearance, maintenance, remission of different symptoms) and the evolution of the diagnosis of depression (onset, maintenance, and remission) in a cohort of patients diagnosed with and without major depression. A prospective cohort study was performed with a one year follow-up in which a random sample of 741 subjects attending primary care was interviewed. Diagnosis of depression was made according to DSM-IV criteria and symptoms presented were analyzed. These subjects were reevaluated at 6 months and 12 months. Depressed mood state, decreased interest or anhedonia and symptoms related to sleep (insomnia or hypersomnia), agitation, feeling of guilt, fatigue or energy loss, are consistent with the diagnosis. The rest of the symptoms display an evolution independent of the diagnostic trends. In Primary Care, it is important to know which are the key symptoms in the evolution of the diagnosis in order to achieve full remission of depression and avoid maintenance of residual symptoms that can become prodromal. PMID:27099211

  2. 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

  3. [Obsessive-compulsive disorder--clinical picture, diagnosis, and therapy].

    Science.gov (United States)

    Zaudig, Michael

    2011-01-01

    This article reviews the present state of knowledge concerning obsessive-compulsive disorder (OCD) with respect to its classification, epidemiology, pathogenesis, and therapy. Epidemiological evidence has indicated that OCD may be one of the most prevalent and disabling psychiatric disorders. There is also a high comorbidity with depression and anxiety disorders. OCD is characterized by repetitive, intrusive thoughts and images, and/or by repetitive, ritualistic physical or mental acts performed to reduce the attended anxiety. OCD is relatively common, affecting 1-3% of both adult and paediatric samples. OCD is clinically a heterogeneous condition in that two different patients with clear OCD can display completely distinct symptom patterns. Furthermore, neurobiological and psychological models concerning OCD as well as the present state of therapy are presented in detail. PMID:21432837

  4. Mucocele of the upper lip: case report of an uncommon presentation and its differential diagnosis.

    Science.gov (United States)

    Mustapha, Indra Z; Boucree, Stanley A

    2004-05-01

    This report describes a lesion of the upper lip that was definitively diagnosed by histologic examination as a mucocele or mucus retention phenomenon. The usual location of mucoceles is the lower lip. This case illustrates an uncommon presentation of mucocele with respect to symptoms, location and duration. The features of a variety of oral lesions are discussed and compared, to help clinicians in establishing an appropriate differential diagnosis. PMID:15132815

  5. 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.

  6. 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.

  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. Stenotrophomonas maltophilia endogenous endophthalmitis: clinical presentation, antibiotic susceptibility, and outcomes

    Directory of Open Access Journals (Sweden)

    Chhablani J

    2014-08-01

    Full Text Available Jay Chhablani,1 Aditya Sudhalkar,1 Animesh Jindal,2 Taraprasad Das,1 Swapna R Motukupally,3 Savitri Sharma,3 Avinash Pathengay,2 Harry W Flynn Jr4 1Srimati Kannuri Santhamma Centre for Vitreoretinal Diseases, L V Prasad Eye Institute, Kallam Anji Reddy Campus, Hyderabad, India; 2L V Prasad Eye Institute, GMR Varalakshmi Campus, Visakhapatnam, India; 3Jhaveri Microbiology Centre, L V Prasad Eye Institute, Kallam Anji Reddy Campus, Hyderabad, India; 4Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami, Miller School of Medicine, Miami, FL, USA Objective: To describe clinical presentation, antibiotic susceptibility, and outcomes in patients with Stenotrophomonas maltophilia endogenous endophthalmitis.Design: Retrospective case series.Participants: Four eyes of four patients with S. maltophilia endogenous endophthalmitis.Methods: Retrospective chart review of culture-positive S. maltophilia endogenous endophthalmitis treated at L V Prasad Eye Institute, Hyderabad, India, between January 2007 and December 2012, was done. Collected information included demographic, clinical, and microbiology data.Results: These four patients with S. maltophilia endogenous endophthalmitis cases accounted for 0.47% (4/836 of total bacterial endophthalmitis cases treated in this period. All patients were from a rural setting and younger than 40 years. Two of the four patients had a history of immune compromise or hospitalization. The visual acuity at presentation was less than 20/320 in all patients. Common presenting features were severe anterior and posterior segment inflammation and hypopyon. All patients underwent vitrectomy with injection of intravitreal antibiotics and dexamethasone. Direct microscopy of the vitreous sample was positive in all cases. All isolates were sensitive to fluoroquinolones and chloramphenicol; sensitivity to aminoglycosides and third-generation cephalosporins was highly variable. The final visual acuity was 20

  10. [Coronary microvascular dysfunction : Clinical aspects, diagnosis and therapy].

    Science.gov (United States)

    Ong, P; Sechtem, U

    2016-06-01

    Just as in epicardial coronary stenosis, coronary microvascular dysfunction (CMD) also leads to an imbalance of myocardial oxygen supply and demand. The dysfunction is located at the level of the coronary microcirculation with vessel diameters channel blockers. Patients with CMD have an elevated risk for coronary events and death of approximately 1.7 % per year. Moreover, there is an increased morbidity with frequent presentations in practices and emergency admissions. Clinical research efforts should aim at a better characterization of the underlying mechanisms of CMD in order to develop targeted treatment approaches. PMID:27255117

  11. Clinical presentation and biochemical findings children with glycogen storage disease type 1A

    International Nuclear Information System (INIS)

    To determine the clinical pattern of presentation and biochemical characteristics of glycogen storage disease (GSD) type 1a in children at a tertiary referral centre. Study Design: Descriptive/ cross sectional study. Place and Duration of Study: Department of Pediatric, division of Gastroenterology and Hepatology of the Children's hospital, Lahore over a period of 11 years. Patients and Methods: Confirmed cases of glycogen storage disease (clinical plus biochemical findings consistent with GSD 1a and proven on liver biopsy) were enrolled in this study from neonatal age till 18 years. Data was retrieved from files and electronic record for these cases. Diagnosis was made on the basis of history, clinical findings including hepatomegaly, hypertriglyceridemia, hypercholesterolemia, hypoglycemia and hyperuricemia (if present). Diagnosis was confirmed on liver biopsy. Patients with other storage disorders and benign and malignant tumours were excluded from the study. Results: Total patients included in the study were 360 with male to female ratio of 1.25:1. Median age at the time of diagnosis was 25.6 months (age range from one month to 18 years). Most common presentation was abdominal distension (83%) followed by failure to thrive (69%) and recurrent wheezing and diarrhoea (44%) each. Seizures were present in only 1/3rd of children. Other presentations included vomiting, respiratory distress, altered sensorium, nephrocalcinosis, epistaxis and hypothyroidism. Few patients around 11% presented with acute hepatitis and later were diagnosed as GSD. Significant hepatomegaly was evident in almost all patients but nephromegaly was present in only 5.5% patients. All children had marked hypertriglyceridemia but cholesterol levels were raised in 1/3rd of children. A large majority of children had deranged ALT more than 2 times of normal and around 38% children had marked anemia. Significant hypoglycemia and metabolic acidosis was documented in around 1/3rd of children

  12. 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.

  13. 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.

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

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    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. PMID:25833625

  15. 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.

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

    International Nuclear Information System (INIS)

    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

  17. 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

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    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

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

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    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

  19. Angioimmunoblastic T-cell lymphoma: clinical and laboratory features at diagnosis in 77 patients.

    Science.gov (United States)

    Lachenal, Florence; Berger, Francoise; Ghesquières, Hervé; Biron, Pierre; Hot, Arnaud; Callet-Bauchu, Evelyne; Chassagne, Catherine; Coiffier, Bertrand; Durieu, Isabelle; Rousset, Hugues; Salles, Gilles

    2007-09-01

    We retrospectively analyzed 77 patients with pathologically diagnosed angioimmunoblastic T-cell lymphoma from a single city. There were 43 men and 34 women; the median age was 64.5 years (range, 30-91 yr). Average time between first symptoms of the disease and diagnosis was 3.6 months. At diagnosis, peripheral nodes were present in all but 1 patient, and were generalized in 90% of cases. Constitutional symptoms were reported in 77% of cases and spleen enlargement in 51%. A cutaneous eruption--morbilliform, urticarial, or more polymorphic--was present in 45% of patients; in one-third of them, the eruption occurred after drug administration. Other clinical manifestations included pleuritis (22%); arthralgia or arthritis (17%); ear, nose, and throat involvement (14%); central or peripheral neurologic manifestations (10%); and ascites (5%). Most patients presented with advanced disease at diagnosis (bone marrow involvement in 60% of cases). The main laboratory abnormalities were elevated lactate dehydrogenase levels (71%), inflammatory syndrome (67%), hypergammaglobulinemia (50%), anemia (51%), and lymphopenia (52%). Auto- or disimmune manifestations were reported in one-third of patients: autoimmune hemolytic anemia was present at diagnosis in 19% of patients and thrombocytopenic purpura in 7%. Documented vasculitis was described in 12% of cases. Clonality was analyzed in lymph nodes in 47 patients: T-cell and B-cell clones were found in 45 (96%) and 20 (45%) patients, respectively. Chromosomal abnormalities were identified in 62% of cases: trisomies 3, 5, 18, 19, additional X chromosome, and deletion of chromosome 7 were the most common abnormalities. The current study underlines the diversity of presenting manifestations of angioimmunoblastic T-cell lymphoma. PMID:17873758

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

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    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.

  1. Pattern of clinical features in patients with hypothyroidism presenting to Khartoum hospital

    International Nuclear Information System (INIS)

    Objectives: to determine the pattern of clinical manifestations in patients with hypothyroidism and to document the clinical state, the laboratory findings and the effect of therapy on those who restrict themselves to the long term medication and follow up. Design: a prospective study on all patients in whom a clinical suspicious of being hypothyroidism,this was during a period from the first of june 1997 to the end of december 1998 (18 months). Subjects: the study population comprised two groups of patients: a) patients presenting for the first time (n:20). b) patients previously known to be hypothyroidism but stopped the medication for a while from 6 months up to one year or more (n:16). Methods: data was collected through a questionnaire detailing the medical history, medical examination and the laboratory investigations which were performed. Results: hypothyroidism is a disease of female although it's rare but can be encountered, the diagnosis is delayed because of the wide range of symptoms, the commonest were fatigue (88.9%), myalgia (75%), hoarseness of voice (72.2%), dry skin (63.9%), these patients may present with constipation (44.4%) or to the gyne because of menorrhagia (47.2%),or to the psychiatry because of change in mood (41.7%) signs such as delayed relaxation of the knee jerk (83.3%),proximal myopathy (38.9%), perorbital swelling (50%) or loss of eye brows (27.8%) can help in the diagnosis. Conclusion: hypothyroidism is rare in the Sudan, for the diagnosis not to be delayed one should be familiar with the different manifestations in order to be able to elicit appropriate signs. The treatment is satisfactory, responsive to thyroxine which should be life long therapy

  2. The influence of clinical information in the histopathologic diagnosis of melanocytic skin neoplasms.

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    Gerardo Ferrara

    Full Text Available BACKGROUND: We tested the relevance of clinical information in the histopathologic evaluation of melanocytic skin neoplasm (MSN. METHODS: Histopathologic specimens from 99 clinically atypical MSN were circulated among ten histopathologists; each case had clinical information available in a database with a five-step procedure (no information; age/sex/location; clinical diagnosis; clinical image; dermoscopic image; each step had a histopathologic diagnosis (D1 through D5; each diagnostic step had a level of diagnostic confidence (LDC ranging from 1 (no diagnostic certainty to 5 (absolute diagnostic certainty. The comparison of the LDC was employed with an analysis of variance (ANOVA for repeated measures. FINDINGS: In D1 (no information, 36/99 cases (36.3% had unanimous diagnosis; in D5 (full information available, 51/99 cases (51.5% had unanimous diagnosis (p for difference between proportions <0.001. The observer agreement expressed as kappa increased significantly from D1 to D5. The mean LDC linearly increased for each observer from D1 through D5 (p for linear trend <0.001. On average, each histopathologist changed his initial diagnosis in 7 cases (range: 2-23. Most diagnostic changes were in D2 (age/sex/location. INTERPRETATION: The histopathologic criteria for the diagnosis of MSN can work as such, but the final histopathologic diagnosis is a clinically-aided interpretation. Clinical data sometimes reverse the initial histopathologic evaluation.

  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. Stress fractures: pathophysiology, clinical presentation, imaging features, and treatment options.

    Science.gov (United States)

    Matcuk, George R; Mahanty, Scott R; Skalski, Matthew R; Patel, Dakshesh B; White, Eric A; Gottsegen, Christopher J

    2016-08-01

    Stress fracture, in its most inclusive description, includes both fatigue and insufficiency fracture. Fatigue fractures, sometimes equated with the term "stress fractures," are most common in runners and other athletes and typically occur in the lower extremities. These fractures are the result of abnormal, cyclical loading on normal bone leading to local cortical resorption and fracture. Insufficiency fractures are common in elderly populations, secondary to osteoporosis, and are typically located in and around the pelvis. They are a result of normal or traumatic loading on abnormal bone. Subchondral insufficiency fractures of the hip or knee may cause acute pain that may present in the emergency setting. Medial tibial stress syndrome is a type of stress injury of the tibia related to activity and is a clinical syndrome encompassing a range of injuries from stress edema to frank-displaced fracture. Atypical subtrochanteric femoral fracture associated with long-term bisphosphonate therapy is also a recently discovered entity that needs early recognition to prevent progression to a complete fracture. Imaging recommendations for evaluation of stress fractures include initial plain radiographs followed, if necessary, by magnetic resonance imaging (MRI), which is preferred over computed tomography (CT) and bone scintigraphy. Radiographs are the first-line modality and may reveal linear sclerosis and periosteal reaction prior to the development of a frank fracture. MRI is highly sensitive with findings ranging from periosteal edema to bone marrow and intracortical signal abnormality. Additionally, a brief description of relevant clinical management of stress fractures is included. PMID:27002328

  5. 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.

  6. 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

  7. Clinical presentation, aetiology and complications of pancreatitis in children

    International Nuclear Information System (INIS)

    Background: Childhood Pancreatitis is an uncommon but serious condition with incidence on the rise. It manifests as acute or chronic form with epigastric pain, vomiting and elevated serum -amylase and lipase. This study was conducted with the aim to determine the clinical presentation, aetiology, and complications of pancreatitis in children. Method: This descriptive case series was conducted in the Department of Paediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and the Institute of Child Health, Lahore from 1st January to 31st December 2014. Seventy-two patients up to the age of 15 years having abdominal pain, Amylase >200 IU/L and/or lipase >165 IU/L, with features of acute or chronic pancreatitis on abdominal imaging; were included in study. Data analysis was done using SPSS-20. Results: Of the total 72 patients, 43 (60 percentage) had acute pancreatitis, males were 25 (58 percentage) and females 18 (42 percentage) and chronic pancreatitis was diagnosed in 29 (40 percentage), males 10 (34 percentage) and females 19 (66 percentage). Common clinical features were abdominal pain (100 percentage), nausea and vomiting (79 percentage). Common aetiologies were idiopathic (40 percentage) while choledochal cyst 8 percentage, hyperlipidaemia 7 percentage, biliary tract stones/sludge 7 percentage and abdominal trauma 6percentage. Complications were more frequently associated with acute pancreatitis (60 percentage) than with chronic pancreatitis (34 percentage). Common complications were pseudo-pancreatic cyst (36 percentage), ascites (17 percentage) and pleural effusion (4 percentage). Conclusion: Abdominal pain, nausea and vomiting were common presenting features of childhood pancreatitis. Common aetiologies were idiopathic hyperlipidemia, biliary tract stones/sludge, choledochal cyst and abdominal trauma. Common complications were Pseudo-pancreatic cyst, ascites and pleural effusion. (author)

  8. 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)

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

    International Nuclear Information System (INIS)

    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. 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

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

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    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

  12. 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

  13. 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...

  14. A novel method of thermal tomography tumor diagnosis and its clinical practice

    International Nuclear Information System (INIS)

    When there exist diseases or functional changes in a certain part of the human body, the speed of blood flow and cell metabolism will change correspondingly, which will lead to the thermal variation in this area. To find out the relation between disease and heat distribution, a suitable bio-heat transfer model is established in this paper. Based on the infrared thermal image of human body surface, the q–r characteristic curve of heat intensity varying with depth is acquired combining the fitting method of Lorentz curve. According to a large number of clinical cases and statistics, the diagnostic criteria judging diseases by q–r characteristic curve are proposed. Several clinical practices are performed and the diagnosis results are very consistent with those of molybdenum target (MT) X-ray and B-ultrasonic images. It is a radiation-free green method with rapid diagnostic procedure and accurate diagnosis result. - Highlights: • We present a new heat-transfer mathematical model suitable for thermal tomography. • The method of acquiring the q–r characteristic curve is provided. • We propose the diagnostic criteria of female breast diseases by q–r characteristic curve. • Four typical clinical practices and the corresponding comparisons are performed

  15. Evaluation of the agreement between clinical and laboratorial exams in the diagnosis of leprosy.

    Science.gov (United States)

    Teixeira, André Costa; Cruvinel, Danilo Lemos; Roma, Fábio Rodrigues de; Luppino, Leandro Ferreira; Resende, Luís Henrique Pereira; Sousa, Theo de; Bührer-Sékula, Samira; Goulart, Isabela Maria Bernardes

    2008-01-01

    This study examined the correlation between the clinical and laboratory diagnosis of leprosy, using biopsy results from laboratories 'A' and 'B' and the ML Flow test. Clinical and histopathological diagnoses presented 67.6% agreement. The laboratories showed 73.7% agreement in the bacterial index and laboratory 'B' detected 25.4% more positives. The highest agreement was in the LL form and lowest, in the I form. The highest diagnostic discrepancy was for the BB form. Clinical diagnosis agreement was 41.3% for laboratory 'A' and 54% for 'B'. The ML Flow test reclassified 10.7% of the patients. The spectrum of leprosy classification is important for a clearer understanding of the disease and its proper treatment, but is not used in health services, which use the simplified WHO criteria. This could be complemented by ML Flow testing. Such simplification is unacceptable for Leprosy Reference Centers regarding patient attendance, teaching and research, for which the standardization of the Ridley-Jopling classification is recommended. PMID:19618076

  16. JCL roundtable: Diagnosis and clinical management of lipodystrophy.

    Science.gov (United States)

    Brown, William Virgil; Garg, Abhimanyu; Gorden, Phillip; Shamburek, Robert

    2016-01-01

    Lipodystrophy comes in several forms, some involving the complete failure to develop adipose tissue and others with a partial absence in various bodily distributions. All appear to have a major genetic basis, and all involve a high frequency of lipoprotein disorders. High triglycerides and low high-density lipoprotein cholesterol are the usual findings that raise interesting questions as to how such abnormalities characteristic of obesity can be caused by genetic variants that produce a paucity of adiposity. We are learning to link some specific genetic variants that seem causal and to manage these disorders in more effective ways. We are joined by 3 experts who have been leaders in the study of the clinical presentation, genetics, abnormal physiology, and the management of lipodystrophy in recent years. They are Drs Abhimanyu Garg from the University of Texas Southwestern, Phillip Gorden of the National Institute of Diabetes, Digestive and Kidney Diseases, and Robert Shamburek of the National Heart, Lung and Blood Institute. PMID:27578101

  17. Clinical presentations and MRI findings of angiographically occult vascular malformations

    International Nuclear Information System (INIS)

    Various clinical features as well as MRI findings of AOVM (angiographically occult vascular malformation) were studied. Amongst out patients, since January 1988, there have been 30 cases of symptomatic AOVM (20 males, 10 females) including 4 cases with multiple lesions. The age ranged from 3 to 60 years of age, with a mean of 33.4 years. The locations of symptomatic lesions were in the cerebral hemisphere (15), the thalamus (4), the brain stem (8) and in the cerebellum (3). The initial presentations of these 30 cases were either by hemorrhage (18), convulsive seizure (9) or by progressive neurological deficits (3). The initial presentation was not related to the patient's age and the size of the lesion, but apparently related to the location of AOVM. Most of the lesions in the cerebral hemisphere presented seizures, but all of the lesions in the thalamus, the brain stem and the cerebellum disclosed hemorrhage as an initial presentation. In fact it was noticed that brain stem lesions tend to cause repetitive hemorrhage in a relatively short period. AOVM lesions were clearly visualized with T2-weighted MRI images, consisting of high intensity cores with surrounding low intensity rims. Most of the symptomatic lesions were partially enhanced by Gd-DTPA with varied intensity. Dynamic changes in size and enhancement pattern on MRI were occasionally seen, usually accompanied with episodes such as hemorrhage or neurological deterioration. Although AOVMs were angiographically negative some strands indicating draining veins were observed on MRI in several cases. In contrast, none of the nonsymptomatic lesions (22 lesions) demonstrated enhancement effects with Gd-DTPA. (author)

  18. [Neuromuscular dynamic scapular winging: Clinical, electromyographic and magnetic resonance imaging diagnosis].

    Science.gov (United States)

    Nguyen, Christelle; Guérini, Henri; Roren, Alexandra; Zauderer, Jennifer; Vuillemin, Valérie; Seror, Paul; Ouaknine, Michaël; Palazzo, Clémence; Bourdet, Christopher; Pluot, Étienne; Roby-Brami, Agnès; Drapé, Jean-Luc; Rannou, François; Poiraudeau, Serge; Lefèvre-Colau, Marie-Martine

    2015-12-01

    Dyskinesia of the scapula is a clinical diagnosis and includes all disorders affecting scapula positioning and movement whatever its etiology. Scapular winging is a subtype of scapular dyskinesia due to a dynamic prominence of the medial border of the scapula (DSW) secondary to neuromuscular imbalance in the scapulothoracic stabilizer muscles. The two most common causes of DSW are microtraumatic or idiopathic lesions of the long thoracic nerve (that innerves the serratus anterior) or the accessory nerve (that innerves the trapezius). Diagnosis of DSW is clinical and electromyographic. Use of magnetic resonance imaging (MRI) could be of interest to distinguish lesion secondary to a long thoracic nerve from accessory nerve and to rule out scapular dyskinesia related to other shoulder disorders. Causal neuromuscular lesion diagnosis in DSW is challenging. Clinical examinations, combined with scapular MRI, could help to their specific diagnosis, determining their stage, ruling out differential diagnosis and thus give raise to more targeted treatment. PMID:26433832

  19. 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. PMID:27128371

  20. Atypical Presentations and Specific Genotypes are Associated with a Delay in Diagnosis in Females with Rett Syndrome

    OpenAIRE

    Fehr, Stephanie; Downs, Jenny; Bebbington, Ami; Leonard, Helen

    2010-01-01

    There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors. We hypothesized that girls with an atypical presentation or whose family had a lower socio-economic status would receive a later diagnosis. Female subjects with a confirmed diagnosis of Rett syndrome were sourced from the Australian Rett Syndrome and InterRett Databases. Variables analyzed included timing and development of symptoms; MECP2 muta...

  1. 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.

  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. [Acinic cell carcinoma of glandule parotidea presenting untypical clinical symptoms and their bad prognosis].

    Science.gov (United States)

    Komorski, Józef Andrzej; Nienartowicz, Jan Marian

    2009-01-01

    Differential diagnosis of neck tumours puts precedence on diagnosing neoplastic lesions. In the case of neck tumours, these are unfortunately late signs, but in patients with a primary neoplastic focus within the head and neck, neck tumour is often the first sign of the disease. The authors describe a clinical case of neck tumour with initially unclear etiology. The preoperative diagnostics including ultrasonography, thin-needle puncture, MRI, carotid angiography and videostroboscopy was significant for surgical treatment planning; yet it was the intraoperative clinical picture which indicated that the tumour derived from the inferior parotid pole. The preoperative histopathological diagnosis using thin-needle biopsy: cellulae carcinomatosae and the clinical picture resulted in block operation with neck lymphatic system removal and tissue defect reconstruction by means of a pectoral flap. The histopathological examination confirmed non-cornifying basal cell epithelioma only in the essential lesion with no metastases to lymph nodes and surrounding tissue margins free of infiltrates. Two and a half years after the procedure, the patient presented with a tumour localized on the front thoracic wall and two rapidly enlarging tumours in the nape of the neck. In the collected specimen of the tumour on the front thoracic wall, a diagnosis of acinic cell carcinoma was made. The deteriorating general condition of the patient, his cancer emaciation, problems with movement and suspected liver metastases confirmed by abdominal USG as well as radiological bone lesions resulted in the abandonment of surgical treatment due to disseminated neoplastic process and the patient was referred for palliative care. PMID:20169911

  4. Cri-du-chat syndrome: clinical profile and prenatal diagnosis.

    Directory of Open Access Journals (Sweden)

    Tullu M

    1998-10-01

    Full Text Available Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated. Case 2 was referred for nonimmune foetal hydrops and cordocentesis revealed deletion 5p. This second case was noteworthy for the fact that deletion 5p has not been reported to cause foetal hydrops.

  5. 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. PMID:24474300

  6. Miller Fisher Syndrome: A Case Report Highlighting Heterogeneity of Clinical Features and Focused Differential Diagnosis.

    Science.gov (United States)

    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. Clinical, radiological and molecular diagnosis correlation in serum samples from patients with osteoarticular tuberculosis

    Directory of Open Access Journals (Sweden)

    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.

  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. 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.

  10. Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms.

    Science.gov (United States)

    Dong, Yi; Sun, Yi-Min; Ni, Wang; Gan, Shi-Rui; Wu, Zhi-Ying

    2013-01-15

    Clinical heterogeneity is the prominent feature of spinocerebellar ataxia type 3 (SCA3) which is sometimes neglected and often impedes the timely diagnosis of patients. In this study, the clinical data of 201 unrelated Chinese SCA3 patients were retrospectively studied. The rare clinical features were summarized and the underlying genetic mutations were screened by direct DNA sequencing. Three patients were found primarily presenting with the rare clinical features, including dystonic phenotype without response to levodopa, chorea and memory decline, and hearing impairment, respectively. We firstly reported three diverse heterogeneities of SCA3 patients, which are quite uncommon in the Chinese SCA3 patients. Our results expanded the variable phenotypes of SCA3 and provided the explicit information for the rare and special SCA3 manifestations. Based on this new knowledge, we suggested that when the presentation was consistent with HD or DRD while negative in the corresponding genetic testing, SCA3 should be considered, and clinicians should divert partial attention to the examinations on the auditory system of SCA3 patients. PMID:23174085

  11. Airway inflammation is present during clinical remission of atopic asthma

    OpenAIRE

    Toorn, Leon; Overbeek, Shelley; de Jongste, Johan; Leman, K.; Hoogsteden, Henk; Prins, Jan-Bas

    2001-01-01

    textabstractSymptoms of atopic asthma often disappear at puberty. However, asthmatic subjects in clinical remission will frequently have a relapse later in life. The aim of this study was to investigate whether subjects in clinical remission of atopic asthma have persistent airway inflammation and/or airway remodeling. Bronchial biopsies were obtained from subjects in clinical remission, asthmatic subjects, and healthy control subjects. The presence and/or activation state of eosinophils, mas...

  12. Cushing's syndrome: from physiological principles to diagnosis and clinical care.

    Science.gov (United States)

    Raff, Hershel; Carroll, Ty

    2015-02-01

    The physiological control of cortisol synthesis in the adrenal cortex involves stimulation of adrenocorticotrophic hormone (ACTH) by hypothalamic corticotrophin-releasing hormone (CRH) and then stimulation of the adrenal by ACTH. The control loop of the hypothalamic-pituitary-adrenal (HPA) axis is closed by negative feedback of cortisol on the hypothalamus and pituitary. Understanding this system is required to master the diagnosis, differential diagnosis and treatment of endogenous hypercortisolism--Cushing's syndrome. Endogenous Cushing's syndrome is caused either by excess ACTH secretion or by autonomous cortisol release from the adrenal cortex. Diagnosis of cortisol excess exploits three physiological principles: failure to achieve the normal nadir in the cortisol diurnal rhythm, loss of sensitivity of ACTH-secreting tumours to cortisol negative feedback, and increased excretion of free cortisol in the urine. Differentiating a pituitary source of excess ACTH (Cushing's disease) from an ectopic source is accomplished by imaging the pituitary and sampling for ACTH in the venous drainage of the pituitary. With surgical removal of ACTH or cortisol-secreting tumours, secondary adrenal insufficiency ensues because of the prior suppression of the HPA axis by glucocorticoid negative feedback. Medical therapy is targeted to the anatomical location of the dysregulated component of the HPA axis. Future research will focus on new diagnostics and treatments of Cushing's syndrome. These are elegant examples of translational research: understanding basic physiology informs the development of new approaches to diagnosis and treatment. Appreciating pathophysiology generates new areas for inquiry of basic physiological and biochemical mechanisms.

  13. Studies on diagnosis of lung emphysema by CT image using experimental models and clinical cases

    International Nuclear Information System (INIS)

    Since the detailed report between the degree of functional disorder in lung emphysema and the analysis of CT image is quite unknown, the present study was attempted to produce the experimental model of lung emphysema with various stages by the administration of papain to the focal lobe in canine lung. Using this model or clinical lung emphysema, the relationship between the degree of destruction of alveolar walls, clinical pulmonary functions and CT images was investigated. CT scan was performed at the level of 50% vital capacity in both experimental models and clinical subjects by using spirometric gating CT. CT density histogram was obtained from CT image which was produced by using the developed software for this purpose. Densitometric parameters, such as mean CT value, %LAA, the peak in the histogram and 5% tile were selected from CT image. Papain solution of 5 mg/kg body weight was cumulatively administered to the left lower lobe in canine lung, resulting in the destruction of lung alveolar walls in parallel to the increasing dosage of papain. There was a significant correlation between not only the increasing dosage of papain, but also %FEV 1.0 and CT densitometric parameters, indicating that the histological changes of alveolar walls and the lung function in lung emphysema could be estimated by analysis of CT image. These experimental and clinical studies suggest that the analysis of CT image can reflect the pathophysiological changes in the lung and be useful for precise clinical diagnosis of lung emphysema. (author)

  14. Studies on diagnosis of lung emphysema by CT image using experimental models and clinical cases

    Energy Technology Data Exchange (ETDEWEB)

    Nakatani, Seiki [Wakayama Medical Coll. (Japan)

    1998-01-01

    Since the detailed report between the degree of functional disorder in lung emphysema and the analysis of CT image is quite unknown, the present study was attempted to produce the experimental model of lung emphysema with various stages by the administration of papain to the focal lobe in canine lung. Using this model or clinical lung emphysema, the relationship between the degree of destruction of alveolar walls, clinical pulmonary functions and CT images was investigated. CT scan was performed at the level of 50% vital capacity in both experimental models and clinical subjects by using spirometric gating CT. CT density histogram was obtained from CT image which was produced by using the developed software for this purpose. Densitometric parameters, such as mean CT value, %LAA, the peak in the histogram and 5% tile were selected from CT image. Papain solution of 5 mg/kg body weight was cumulatively administered to the left lower lobe in canine lung, resulting in the destruction of lung alveolar walls in parallel to the increasing dosage of papain. There was a significant correlation between not only the increasing dosage of papain, but also %FEV 1.0 and CT densitometric parameters, indicating that the histological changes of alveolar walls and the lung function in lung emphysema could be estimated by analysis of CT image. These experimental and clinical studies suggest that the analysis of CT image can reflect the pathophysiological changes in the lung and be useful for precise clinical diagnosis of lung emphysema. (author)

  15. 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...

  16. 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 .

  17. 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

  18. Assessing Murphy Sequence as a Clinical Element in Acute Appendicitis Diagnosis

    Directory of Open Access Journals (Sweden)

    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. PNH revisited: Clinical profile, laboratory diagnosis and follow-up

    Directory of Open Access Journals (Sweden)

    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.

  20. 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.

  1. How well do second-year students learn physical diagnosis? Observational study of an objective structured clinical examination (OSCE

    Directory of Open Access Journals (Sweden)

    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.

  2. 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\\

  3. Diagnosis and clinical severity markers of bullous pemphigoid

    OpenAIRE

    Schmidt, Enno; Zillikens, Detlef

    2009-01-01

    The use of a broad spectrum of novel detection systems for autoantibodies to the basement membrane proteins BP180 and BP230 has greatly facilitated the diagnosis of bullous pemphigoid, which most likely explains its increasing incidence in central Europe. Because the pathogenic relevance of antibodies to human BP180 has been convincingly shown both in vitro and in vivo, repeated testing for these antibodies appears to be helpful in guiding treatment decisions during the course of the disease.

  4. Adducted thumbs : A clinical clue to genetic diagnosis

    NARCIS (Netherlands)

    Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Blezer, M. M. J.; Weber, J. W.; Schrander, J. J. P.; Rubio-Gozalbo, M. E.; Bakker, J. A.; Stegmann, A. P. A.; Vos, Y. J.; Frints, S. G. M.

    2013-01-01

    Adducted thumbs are an uncommon congenital malformation. It can be an important clinical clue in genetic syndromes, e. g. the L1 syndrome. A retrospective survey was performed including patients with adducted thumbs referred to the Department of Clinical Genetics between 1985 and 2011 by perinatolog

  5. 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

  6. 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

  7. LEAD POISONING: AN OVERLOOKED DIAGNOSIS IN CLINICAL PRACTICE

    Directory of Open Access Journals (Sweden)

    Amol S. Kadu

    2012-10-01

    Full Text Available Lead is a natural element that is persistent in water and soil. Human exposure occurs primarily through diet, air, drinking water and ingestion of paint chips. Absorption is increased in persons suffering from iron and calcium deficiency. Lead is a multitargated toxicant, causing effects in the gastrointestinal tract, hematopoietic system, cardiovascular system, central and peripheral nervous systems, kidneys, immune system, and reproductive system. Lead poisoning is a common environmental health hazard in developing countries. Incidences of lead poisoning are seen in all age groups, especially in children’s and adults working in lead-based industries, where many workers still remain unaware of the adverse effects of exposure to unusually high levels of lead. Unfamiliarity with the symptoms of lead poisoning results in miss or delayed diagnosis, inadequate treatment, and patients’ continuous exposure in the work environment. Lead intoxication symptoms such as abdominal pain, constipation, nausea, vomiting etc make lead poisoning an important diagnosis to be differentiated from many gastrointestinal and surgical diseases. For diagnosis of lead poisoning, paying attention to a good occupational history, detail knowledge about lead poisoning symptoms and its sources are essential. For this study, relevant literature was searched, retrieved and synopsized with respect to its sources. Lead poisoning symptoms and few case studies of lead poisoning which initially was misdiagnosed hence our study will be helpful to front-line practitioners and family physicians. They can make great contributions to the discovery of occupational diseases in the future.

  8. 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...

  9. BRAT1 mutations present with a spectrum of clinical severity.

    Science.gov (United States)

    Srivastava, Siddharth; Olson, Heather E; Cohen, Julie S; Gubbels, Cynthia S; Lincoln, Sharyn; Davis, Brigette Tippin; Shahmirzadi, Layla; Gupta, Siddharth; Picker, Jonathan; Yu, Timothy W; Miller, David T; Soul, Janet S; Poretti, Andrea; Naidu, SakkuBai

    2016-09-01

    Mutations in BRAT1, encoding BRCA1-associated ATM activator 1, are associated with a severe phenotype known as rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL; OMIM # 614498), characterized by intractable seizures, hypertonia, autonomic instability, and early death. We expand the phenotypic spectrum of BRAT1 related disorders by reporting on four individuals with various BRAT1 mutations resulting in clinical severity that is either mild or moderate compared to the severe phenotype seen in RMFSL. Representing mild severity are three individuals (Patients 1-3), who are girls (including two sisters, Patients 1-2) between 4 and 10 years old, with subtle dysmorphisms, intellectual disability, ataxia or dyspraxia, and cerebellar atrophy on brain MRI; additionally, Patient 3 has well-controlled epilepsy and microcephaly. Representing moderate severity is a 15-month-old boy (Patient 4) with severe global developmental delay, refractory epilepsy, microcephaly, spasticity, hyperkinetic movements, dysautonomia, and chronic lung disease. In contrast to RMFSL, his seizure onset occurred later at 4 months of age, and he is still alive. All four of the individuals have compound heterozygous BRAT1 mutations discovered via whole exome sequencing: c.638dupA (p.Val214Glyfs*189); c.803+1G>C (splice site mutation) in Patients 1-2; c.638dupA (p.Val214Glyfs*189); c.419T>C (p.Leu140Pro) in Patient 3; and c.171delG (p.Glu57Aspfs*7); c.419T>C (p.Leu140Pro) in Patient 4. Only the c.638dupA (p.Val214Glyfs*189) mutation has been previously reported in association with RMFSL. These patients illustrate that, compared with RMFSL, BRAT1 mutations can result in both moderately severe presentations evident by later-onset epilepsy and survival past infancy, as well as milder presentations that include intellectual disability, ataxia/dyspraxia, and cerebellar atrophy. © 2016 Wiley Periodicals, Inc. PMID:27282546

  10. 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.

  11. 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.

  12. Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease

    Directory of Open Access Journals (Sweden)

    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.

  13. Papillon–Lefèvre syndrome: clinical presentation and management options

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    Sreeramulu B

    2015-07-01

    Full Text Available Basapogu Sreeramulu,1 Naragani DVN Shyam,2 Pilla Ajay,1 Pathipaka Suman1 1Department of Prosthodontics, 2Department of Oral Pathology, Government Dental College and Hospital, Hyderabad, Telangana State, India Abstract: Papillon–Lefèvre syndrome (PLS is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious aggressive periodontitis, leading to premature loss of deciduous and permanent dentition at a very young age. Various etiopathogenic factors are associated with the syndrome, like immunologic alterations, genetic mutations, and the role of bacteria. Dentists play a significant role in the diagnosis and management of PLS as there are characteristic manifestations like periodontal destruction at an early age and an early eruption of permanent teeth. Here, we are presenting an elaborate review of PLS, its etiopathogenesis, clinical presentation, and management options. Keywords: deciduous and permanent dentition, modified complete dentures, palmoplantar keratoderma, periodontitis

  14. Clinical signs of pneumonia in children: association with and prediction of diagnosis by fuzzy sets theory

    Directory of Open Access Journals (Sweden)

    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.

  15. 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.

  16. The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy.

    Science.gov (United States)

    Schwartz, Peter J; Ackerman, Michael J

    2013-10-01

    The mind-boggling progress in the understanding of the molecular mechanisms underlying the long QT syndrome (LQTS) has been the subject of many articles and reviews. Still, when it comes to the management of the patients affected by this life-threatening disorder, too many errors still take place, both in the diagnostic process and in the therapeutic choices. The price of these errors is paid by the patients and their families. This review is not directed to the relatively small number of LQTS experts who know what to do. It does not deal with genetics, with epidemiology, or with the well-known clinical manifestations. We have focused solely on the approach to diagnosis and therapy and we have directed this review to the average clinical cardiologist who, in his/her practice, sees occasionally patients affected or suspected to be affected by LQTS; the cardiologist who may know enough to manage them but not enough to be completely confident on his/her most critical choices. We have provided our personal views without making any attempt to blend differences whenever present. On most issues we agree fully but where we do not, we make it clear to the reader by indicating who is thinking what. The result may be unconventional, but it mirrors the challenges, often severe, that we all face in managing and protecting these patients from sudden death while also helping them live and thrive despite their diagnosis. We trust that this unabashed presentation of our clinical approach will be useful for both cardiologists and patients. PMID:23509228

  17. Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases.

    Directory of Open Access Journals (Sweden)

    Xiaokun Hu

    Full Text Available The aim of this study was to explore factors contribute to the success of PGD cycles for monogenic diseases.During a 3-year period (January 2009 to December 2012, 184 consecutive ICSI-PGD cycles for monogenic diseases reaching the ovum pick-up and fresh embryo-transfer stage performed at the Reproductive Medicine Center of The First Affiliated Hospital Of Sun Yat-sen University were evaluated.ICSI was performed on 2206 metaphase II oocytes, and normal fertilization and cleavage rates were 83.4% (1840/2206 and 96.2% (1770/1840, respectively. In the present study, 60.5% (181/299 of day 3 good-quality embryos developed into good-quality embryos on day 4 after biopsy. Collectively, 42.9% clinical pregnancy rate (79/184 and 28.5% implantation rate (111/389 were presented. In the adjusted linear regression model, the only two significant factors affecting the number of genetically unaffected embryos were the number of biopsied embryos (coefficient: 0.390, 95%CI 0.317-0.463, P = 0.000 and basal FSH level (coefficient: 0.198, 95%CI 0.031-0.365, P = 0.021. In the adjusted binary logistic regression model, the only two significant factors affecting pregnancy outcome were the number of genetically available transferable embryos after PGD (adjusted OR 1.345, 95% CI 1.148-1.575, P = 0.000 and number of oocyte retrieved (adjusted OR 0.934, 95% CI 0.877-0.994, P = 0.031.There should be at least four biopsied embryos to obtain at least one unaffected embryos in a PGD system for patients with single gene disorder and under the condition of basal FSH level smaller than 8.0mmol/L. Moreover, if only a low number (< 4 of biopsied embryos are available on day 3, the chance of unaffected embryos for transfer was small, with poor outcome.

  18. 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.

  19. Neonatal Necrotizing Enterocolitis: Clinical Picture, Diagnosis and Therapy

    OpenAIRE

    Karpova I.Yu.

    2012-01-01

    There has been analyzed necrotizing enterocolitis — one of the most severe conditions in newborns. The causes and risk factors of the disease have been considered, and the peculiarities of pathogenesis and microbiological status of newborns have been demonstrated. There has been covered in detail the clinical picture of necrotizing enterocolitis, and have been considered its clinical stages underlying in the classification of the disease. The management selection is shown to depend on the sev...

  20. Risk factors for late-stage HIV disease presentation at initial HIV diagnosis in Durban, South Africa.

    Directory of Open Access Journals (Sweden)

    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.

  1. Isolated Juvenile Xanthogranuloma in Thoracic Spine: Intraoperative Cytological Diagnosis of a Rare Presentation

    Directory of Open Access Journals (Sweden)

    Shashi Singhvi

    2014-06-01

    Full Text Available Juvenile Xanthogranulomas (JXG are benign proliferative disorders of non-Langerhans histiocytes, which present in children as multiple, self-limited, cutaneous lesions. The extracutaneous manifestations of JXG are uncommon, and isolated JXG involving the spinal column is extremely rare. We report here a case of isolated juvenile xanthogranuloma in thoracic spine correctly diagnosed intraoperatively on crush smear cytology and later confirmed by histopathological and immunohistochemical studies. This case report draws attention to the fact that isolated xanthogranuloma should be considered among possible diagnoses of spinal tumor in children. Also, since the long term survival depends on complete surgical resection, a correct intraoperative diagnosis is extremely important for optimal management and prognosis of the patient. [J Interdiscipl Histopathol 2014; 2(3.000: 158-162

  2. Castleman's disease: An unusually young presentation resulting in delayed diagnosis of a neck mass.

    Science.gov (United States)

    Linkhorn, Hannah; van der Meer, Graeme; Gruber, Mayaan; Mahadevan, Murali

    2016-07-01

    We present a case report of a two year old child with an enlarging neck mass over a two year period. Her work-up included blood investigations, radiological imaging and fine needle aspirations which were non-diagnostic. At age 4 she had excision of her neck mass and histopathologic examination revealed unicentric Castleman's disease. This is one of the youngest reported cases in the literature and highlights the need to include CD in the differential diagnosis of neck masses in young children. Castleman's disease (CD) is a rare disease of benign lymph node enlargement which most commonly occurs in adults. While the multi-centric variant is associated with HIV and HHV-8 infection, the aetiology of unicentric disease remains uncertain. PMID:27260588

  3. 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.

  4. 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.

  5. 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.

  6. Development of a Computer Program for Teaching Periodontal Diagnosis Based on Clinical Epidemiological Principles.

    Science.gov (United States)

    Fung, Kelvin; And Others

    1995-01-01

    Development of an inexpensive but powerful computer program to teach clinical periodontal diagnosis using epidemiological principles is described. Using probabilistic thinking, the student is guided from application of raw research data to derivation of likelihood ratios and how they affect clinical decision making. Student response was found to…

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

    OpenAIRE

    Suceveanu Andra Iulia; Mazilu Laura; Suceveanu A.; Paris S.; Voinea F.; Parepa Irinel; Catrinoiu Doina

    2014-01-01

    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 ...

  8. Pelvic splenosis. Clinical case presentation and literature review

    International Nuclear Information System (INIS)

    A feminine patient of 31 years primigravidas with pregnancy of 6 weeks of gestation by FUM. Splenoctomy antecedent 20 years ago by splenic traumatic rupture. It enters to the service of Gynecology for sudden and intense pelvic pain in iliac left fossa and scarce trans vaginal bled. Ultrasound reports uterine cavity without gestational sack, mass of 3.5x1.4 cm in right annex. She is carried out to laparoscopy with pre surgical diagnosis of 'right ectopic pregnancy'. During the surgery its are found data that indicate probable splenosis in bottom of right sack. It was carried out at simple and contrasted TAC that show vascularized solid tumoration accustomed in bottom of right sack. The hepatosplenic scintillography with colloidal sulfide labelled with 99mTc corroborate the diagnostic of pelvic and abdominal splenosis. (Author)

  9. Black raspberries in cancer clinical trials: Past, present and future

    Science.gov (United States)

    Kresty, Laura A.; Mallery, Susan R.; Stoner, Gary D.

    2016-01-01

    BACKGROUND Black raspberries (BRB) inhibit a broad range of cancers in preclinical models, including in vivo models of oral, esophageal, colon, breast and skin cancer. Promising preclinical results have led to clinical evaluations in cancer patients or patients at increased risk for cancer development. OBJECTIVE To summarize clinical investigations targeting cancer or precancerous lesions with BRB and discuss future directions. METHODS A thorough literature search was conducted through December 1, 2015 to identify all published studies evaluating BRB in cancer focused clinical trials. RESULTS Research investigating BRB in clinical settings report positive effects on preneoplastic lesions or cancers of the oral cavity, esophagus and colon. BRB treatment resulted in: histologic regression of oral intraepithelial neoplasia associated with improved histologic grade and significantly reduced loss of heterozygosity at tumor suppressor gene loci, modulated genes linked to RNA processing and growth factor recycling; in the colon, BRB inhibited FAP-associated polyp progression, demethylated tumor suppressor genes and improved plasma cytokine profiles; in Barrett’s patients, BRB consumption increased tissue levels of GST-pi and decreased 8-isoprostane, a marker of lipid peroxidation/oxidative stress. CONCLUSIONS The precise dose, duration and optimum mode of BRB delivery for cancer inhibition remains to be fully elucidated. Common themes across studies support that BRB are anti-proliferative, anti- inflammatory, reduce oxidative stress and restore tumor suppressive activity. Future directions are included in the conclusions section.

  10. 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.

  11. 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.

  12. Endo-perio lesions: Diagnosis and clinical considerations

    Directory of Open Access Journals (Sweden)

    Shenoy Nina

    2010-01-01

    Full Text Available The interrelationship between periodontal and endodontic disease has aroused confusion, queries and controversy. Differentiating between periodontal and endodontic problems can be difficult. A symptomatic tooth may have pain of periodontal and/or pulpal origin. The nature of that pain is often the first clue in determining the etiology of such a problem. Radiographic and clinical evaluation can help clarify the nature of the problem. In some cases, the influence of pulpal pathology may create periodontal involvement. In others, periodontal pathology may create pulpal pathology. This review article discusses the various clinical aspects to be considered for accurately diagnosing and treating endo-perio lesions.

  13. 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...

  14. Present situation and development of the nuclide lung ventilation/perfusion imaging in diagnosis of lung emboli

    International Nuclear Information System (INIS)

    Nuclide lung ventilation/perfusion imaging was established as a nuclear medicine method which was based on two paths of the pulmonary blood flow and ventilation. This method has some valuable features such as sensitive,reliable and being widely used in clinic. This article reviewed thc application and development of lung ventilation/perfusion imaging in the lung emboli diagnosis, lung function clinical observation and experimental studies of the last 15 years. (authors)

  15. PC-based workstation for global PACS remote consultation and diagnosis in rural clinics

    Science.gov (United States)

    Martinez, Ralph; Robles, Saul; Kim, Jinman

    1995-05-01

    Most rural clinics across the country have limited facilities to provide state-of-the-art medical services. The availability of enabling technologies, such as telecommunication networks, multimedia workstations, and telemedicine systems which provide medical services to patients without requiring them to travel from their cities represents a great step in patient care. In previous work, we have developed a distributed software for remote consultation and diagnosis (RCD) in a Global PACS environment over the Internet. The RCD system has been designed and tested on DEC and SUN workstations. In this paper, we present a Unix-PC based platform to implement the RCD over a standard telephone line and Serial Line Internet Protocol (SLIP). The Unix-PC platform offers an inexpensive option for telemedicine workstations in rural clinics, where no Internet is available. If an Internet connection is available at the rural clinic, full RCD multimedia services are possible. The Unix-PC platform has been developed by using Linux, a Unix-like operating system available from several public sites over the Internet. We call the system PC-PACS. The PC-PACS workstation has been tested from different rural sites by connecting the Unix-PC system to the Internet through SLIP. Once the system is connected, RCD sessions have been performed between the Unix- PC platform and SUN workstations. The tests have included diagnosis on radiology and pathology images. A separate telephone line for voice communications during the RCD session is required. This paper describes performance tests for the PC-based workstation and the RCD system over SLIP and Ethernet interfaces. Results show acceptable performance of the workstation and the RCD software.

  16. Applications of PET CT in clinical practice: Present and future

    Science.gov (United States)

    Costa, Durval Campos

    2007-02-01

    Radionuclide imaging and specially positron emission tomography (PET) has already demonstrated its benefits in three major medical subjects, i.e. neurology, cardiology and particularly clinical oncology. More recently the combination of PET and X-ray computed tomography (CT) as PET-CT led to a significant increment of the already large number of clinical applications of this imaging modality. This "anatomy-metabolic fusion" also known as Metabolic Imaging has its future assured if we can: (1) improve resolution reducing partial volume effect, (2) achieve very fast whole body imaging, (3) obtain accurate quantification of specific functions with higher contrast resolution and, if possible, (4) reduce exposure rates due to the unavoidable use of ionizing radiation.

  17. 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…

  18. Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency

    DEFF Research Database (Denmark)

    van Schaarenburg, Rosanne A; Schejbel, Lone; Truedsson, Lennart;

    2015-01-01

    OBJECTIVE: Globally approximately 60 cases of C1q deficiency have been described with a high prevalence of Systemic Lupus Erythematosus (SLE). So far treatment has been guided by the clinical presentation rather than the underlying C1q deficiency. Recently, it was shown that C1q production can be...... restored by allogeneic hematopoietic stem cell transplantation. Current literature lacks information on disease progression and quality of life of C1q deficient persons which is of major importance to guide clinicians taking care of patients with this rare disease. METHODS: We performed an international...... survey, of clinicians treating C1q deficient patients. A high response rate of >70% of the contacted clinicians yielded information on 45 patients with C1q deficiency of which 25 are published. RESULTS: Follow-up data of 45 patients from 31 families was obtained for a median of 11 years after diagnosis...

  19. Ebola virus disease: epidemiology, clinical presentation, and diagnostic and therapeutic modalities.

    Science.gov (United States)

    Dulaurier, Marlie; Moyer, Katherine; Wallihan, Rebecca

    2016-07-01

    Ebola virus disease (EVD) is a severe multisystem disease. Prehospital personnel, hospitals, and clinicians must be prepared to provide care for patients with EVD, with special attention to rigorous infection control in order to limit the spread of infection. Children with EVD are an especially challenging population, as the initial symptoms are nonspecific and difficult to differentiate from several common infections. For children presenting with a syndrome consistent with EVD, it is extremely important that healthcare workers identify epidemiologic risk factors, such as recent travel to an affected country or exposure to a patient with suspected or known EVD. Given the high morbidity and mortality of this disease, clinical efforts should focus on early diagnosis, appropriate infection control, and supportive care. PMID:27328168

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

    Directory of Open Access Journals (Sweden)

    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.

  1. 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.

  2. Clinical Presentation of Mucopolysaccharidosis Type II (Hunter's Syndrome)

    OpenAIRE

    Chinawa, JM; Adimora, GN; Obu, HA; Tagbo, B; Ujunwa, F; Onubogu, I

    2012-01-01

    We present a rare case of mucopolysaccharidosis (MPS) with a typical presentation of mental retardation and absence of corneal clouding. The purpose of presenting this case report is to highlight the distinctive manifestation of MPS (Hunter's disease) and to provide a concise report of Hunter's disease for medical practitioners with the hope that such information will help identify boys earlier in the course of their disease. This report is of a 7-year-old boy who presented to the children ou...

  3. Spectrum of clinical presentation and surgical management of intestinal tuberculosis at tertiary care hospital

    International Nuclear Information System (INIS)

    Background: Tuberculosis can involve gastrointestinal tract anywhere from mouth to anus, the peritoneum and pancreato biliary system. It has varied clinical presentations sometimes mimicking other common abdominal diseases. Tuberculosis continues to be a major problem especially in developing countries, being responsible for 7 - 10 million new cases and 6 per cent of deaths worldwide annually. Objective was to assess and evaluate various clinical presentations and management of intestinal tuberculosis at Liaquat University Hospital, Jamshoro/Hyderabad. Methods: This 3-year descriptive study was conducted on patients with diagnosed intestinal tuberculosis (by histopathology) in Surgical Unit-I, from January 2006 to December 2008. Detailed history and clinical examination was performed in all the cases. Investigations like Blood CP and ESR, Urea, RBS Electrolytes, Serum A/G Ratio, Ultrasound abdomen, X-Ray chest and abdomen were carried out in all the cases while barium meal, follow through and CT Scan abdomen were performed in selected cases. Preoperative assessment of anatomical site and variety of lesions were also noted. Results: A total of 60 patients with diagnosis of intestinal tuberculosis were admitted and operated. Diagnosis was confirmed by histopathology. Among these, 28 (46.7%) were male, and 32 (54.1%) were female. Variable clinical presentations were seen. Majority of patients (46, 76.7%) had abdominal pain, 26 (43.3%) had vomiting; abdominal distension was seen in 22 (36.7%) cases, diarrhoea and constipation in 16 patients (26.7%) and abdominal mass in 14 patients (23.3%). Majority of patients had ulcerostenotic type of tuberculosis. Single stricture of ileum was seen in 15 (25%) while multiple strictures were seen in 13 (21.7%). Ileal perforation was seen in 6 (10%) patients. Weight lo ss was seen in 40 (66.7%) patients, fever 36 (60%), night sweats 30 (50%), anorexia in 30 (50%) and pulmonary tuberculosis in 18 (30%) patients. Resection and

  4. STUDY OF CLINICAL AND HISTOPATHOLOGICAL PRESENTATION OF OVARIAN MASSES IN TEACHING HOSPITAL

    Directory of Open Access Journals (Sweden)

    Shobha

    2016-02-01

    Full Text Available OBJECTIVE To study the clinical and histopathological presentation of ovarian masses. METHOD Hospital based retrospective study done on 200 patients in the Department of Gynaecology, Gandhi Hospital, Secunderabad, who are clinically and sonologically diagnosed to have ovarian masses during the period of January 2014 to September 2015. RESULTS The prevalence of ovarian masses in our study was 0.6%. Among the 200 cases, 60.5% were neoplastic and 39.5% were non-neoplastic. Among neoplasms 90% were benign, 8.26% malignant and 1.65% borderline. Serous cystadenoma was the commonest benign tumor (55% followed by Mucinous (27.5% and Dermoid (15.5%. Most common malignant ovarian tumor was Serous cystadenocarcinoma (60%. CONCLUSION Ovarian neoplasms have twice the incidence of non-neoplasms. Maximum incidence of malignancy is in between 40-49 years of age group. Non-specific abdominal symptoms should be given more importance, as it may be the only clue to the underlying malignancy. So effective clinical, biochemical and radiological diagnosis helps in early intervention to increase the survival rates in malignancy. Sixty million people are affected with glaucoma worldwide and more than 20 million have PACG. Of these more than 5 million with PACG are blind, which is twice more than POAG. Early detection and timely treatment with Nd:YAG laser iridotomy and associated complications determine visual outcome.

  5. 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

  6. Neonatal Necrotizing Enterocolitis: Clinical Picture, Diagnosis and Therapy

    Directory of Open Access Journals (Sweden)

    Karpova I.Yu.

    2012-06-01

    Full Text Available There has been analyzed necrotizing enterocolitis — one of the most severe conditions in newborns. The causes and risk factors of the disease have been considered, and the peculiarities of pathogenesis and microbiological status of newborns have been demonstrated. There has been covered in detail the clinical picture of necrotizing enterocolitis, and have been considered its clinical stages underlying in the classification of the disease. The management selection is shown to depend on the severity and the process stage. Medical treatment is used in I and II stages. In III stage both medical and operative therapy is possible, and an emergency operation is indicated in IV stage. The operation of choice is the technique of applying decompression intestinal stomas by means of which the length of the intestine is kept and the risk of postoperative complications is reduced.

  7. Adducted thumbs: a clinical clue to genetic diagnosis.

    Science.gov (United States)

    Verhagen, J M A; Schrander-Stumpel, C T R M; Blezer, M M J; Weber, J W; Schrander, J J P; Rubio-Gozalbo, M E; Bakker, J A; Stegmann, A P A; Vos, Y J; Frints, S G M

    2013-03-01

    Adducted thumbs are an uncommon congenital malformation. It can be an important clinical clue in genetic syndromes, e.g. the L1 syndrome. A retrospective survey was performed including patients with adducted thumbs referred to the Department of Clinical Genetics between 1985 and 2011 by perinatologists, (child) neurologists or paediatricians, in order to evaluate current knowledge on the genetic etiology of adducted thumbs. Twenty-five patients were included in this survey. Additional features were observed in 88% (22/25). In 25% (4/16) of the patients with adducted thumbs and congenital hydrocephalus L1CAM gene mutations were identified. One patient had a mosaic 5p13 duplication. Recommendations are made concerning the evaluation and genetic workup of patients with adducted thumbs. PMID:23220544

  8. 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.

  9. Clinical and radiological diagnosis of the osteomyelitis in children

    International Nuclear Information System (INIS)

    The authors explain the pathogenesis as well as the clinical and the in vitro chemical data obtained in the case of acute, hematogenic osteomyelitis which is the type most frequently occurring in childhood. X-ray radiography still is the imaging method of choice for diagnostic evaluation, and typical findings are explained. It is recommended to start treatment with antibiotics as early as possible, also in case of suspected osteomyelitis. (MG)

  10. Combined clinical and genetic testing algorithm for cervical cancer diagnosis

    OpenAIRE

    Liou, Yu-Ligh; Zhang, Tao-Lan; Yan, Tian; Yeh, Ching-Tung; Kang, Ya-Nan; Cao, Lanqin; Wu, Nayiyuan; Chang, Chi-Feng; Wang, Huei-Jen; Yen, Carolyn; Chu, Tang-Yuan; Zhang, Yi; Zhang, Yu; Zhou, Honghao

    2016-01-01

    Background Opportunistic screening in hospitals is widely used to effectively reduce the incidence rate of cervical cancer in China and other developing countries. This study aimed to identify clinical risk factor algorithms that combine gynecologic examination and molecular testing (paired box gene 1 (PAX1) or zinc finger protein 582 (ZNF582) methylation or HPV16/18) results to improve diagnostic accuracy. Methods The delta Cp of methylated PAX1 and ZNF582 was obtained via quantitative methy...

  11. 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.

  12. Aerosolized pentamidine: Effect on diagnosis and presentation of Pneumocystis carinii pneumonia

    International Nuclear Information System (INIS)

    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

  13. Analysis of clinical features of ocular presentation in cranial venous sinus thrombosis

    Directory of Open Access Journals (Sweden)

    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.

  14. SARS: clinical presentation, transmission, pathogenesis and treatment options.

    Science.gov (United States)

    Chan, Paul K S; Tang, Julian W; Hui, David S C

    2006-02-01

    SARS (severe acute respiratory syndrome) appeared as the first emerging infectious disease of this century. It is fortunate that the culprit virus can be grown without much difficulty from a commonly used cell line, allowing an unlimited supply of isolates for further molecular studies and leading to the development of sensitive diagnostic assays. How the virus has successfully jumped the species barrier is still a mystery. The superspreading events that occurred within hospital, hotel and high-density housing estate opens a new chapter in the mechanisms and routes of virus transmission. The old practice of quarantine proved to be still useful in controlling the global outbreak. Despite all the available sophisticated tests, alertness with early recognition by healthcare workers and prompt isolation of suspected cases is still the most important step for containing the spread of the infection. Although the rapidly evolving outbreak did not allow the conducting of systematic clinical trails to evaluate treatment options, the accumulated experience on managing SARS patients will improve the clinical outcome should SARS return. Although SARS led to more than 700 deaths worldwide, the lessons learnt have prepared healthcare systems worldwide to face future emerging and re-emerging infections. PMID:16411895

  15. [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.

  16. [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. PMID:27312832

  17. 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.

  18. Neuroimaging supports the clinical diagnosis of methanol poisoning

    International Nuclear Information System (INIS)

    In addition to visual loss, methanol intoxication can cause brain damage that is revealed by neuroimaging. We report on a 34-year-old man whose visual acuity deteriorated dramatically during his journey round the world, shortly after an evening with excessive alcohol consumption. Two months after the start of visual disturbances he returned to Finland. At examination, poor visual acuity and glaucomatously cupped pale optic discs were detected. The history and clinical findings indicated possible methanol intoxication, which was supported by both CT and MRI. The MRI findings are discussed in the light of the MRI appearance of the pallidum nuclei among patients of different age groups. (orig.)

  19. 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.

  20. 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.

  1. PERFORMANCE COMPARISON OF ECG COMPRESSIONALGORITHMS BASED ON CLINICAL DIAGNOSIS

    Institute of Scientific and Technical Information of China (English)

    李顺山; 李高平; 乐园; 庄天戈

    2001-01-01

    This paper reviewed the recent progress in the field of electrocardiogram (ECG) compression and compared the efficiency of some compression algorithms. By experimenting on the 500 cases of ECG signals from the ECG database of China, it obtained the numeral indexes for each algorithm. Then by using the automatic diagnostic program developed by Shanghai Zhongshan Hospital, it also got the parameters of the reconstructed signals from linear approximation distance threshold (LADT), wavelet transform (WT), differential pulse code modulation (DPCM) and discrete cosine transform (DCT) algorithm. The results show that when the index of percent of root-mean-square difference(PRD) is less than 2.5%, the diagnostic agreement ratio is more than 90%; the index of PRD cannot completely show the damage of significant clinical information; the performance of wavelet algorithm exceeds other methods in the same compression ratio (CR). For the statistical result of the parameters of various methods and the clinical diagnostic results, it is of certain value and originality in the field of ECG compression research.

  2. [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.

  3. 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.

  4. 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.

  5. 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.

  6. CNS Cavernous Hemangioma; Imaging, Clinical Presentation and Related Anatomophysiology

    Directory of Open Access Journals (Sweden)

    Jalal Jalal Shokouhi

    2009-01-01

    Full Text Available "nClinical and imaging judgement or decision: "n- Is it a CH “CM, CA“? "n- Is it solitary, multiple or familial? "n- Is there an associated venous malformation? "n- Are there risks and consequences of hemorrhage? "n- Is the anatomic location critical and life threatening? "nCavernous malformation is a low pressure, slow flowing malformation and composes 10 – 15 % of vascular malformations. Cavernous angioma consists of enlarged sinusoidal vascular spaces, a compact mass in the brain and spinal cord, the endothelial lining is weak and blood element leakage is frequent.Calcification is possible "X – ray CT ". 75% located in the brain and 25 % in the posterior fossa and brain stem. "nAll 50% of cases are multiple and this form is familial in 80 % of cases “possibility combined with cord cavernoma“. "nExtra – medullary and extra – paranchymal forms are rare. "n- 40-60 % of the patients demonstrate seizure because of hemorrhage inside the cavernoma. "n10 – 15 % of complicated patients show significant clinical signs especially in the brain stem."n Imaging: "n1- X-ray CT: Isodense or hyperdense with frequent and heavy calcification . "nEnhanced CT may show the degree of enhancement. "n2 – By MRI: T1 may be isointense but in case of hemorrhage there is bright methemoglobin inside. By T2 and flair a thin capsule and a rim of hemosiderin – ferritin "popcorn or mulberries" and shows enhancement "GD-GRE-MRI pulse". "nCompanion of venous angioma and cavernoma is possible. "nBleeding is more likely from cavernous malformations during pregnancy. "nConclusion: CT and MRI demonstrate all forms and sites of brain and spinal cord cavernomas. "nAttention is necessary for brain stem lesions especially during pregnancy."n Treatment: 1- Medial and serial MRI controls. "n2- Radiosurgery "Gama-knife", rare. "n3- Microsurgery, very rare Multiple forms of these lesions are demonstratable in 55 patients.  

  7. Disseminated Cryptococcal Infection Resulting in Acute Respiratory Distress Syndrome (ARDS) as the Initial Clinical Presentation of AIDS.

    Science.gov (United States)

    Orsini, Jose; Blaak, Christa; Tam, Eric; Rajayer, Salil; Morante, Joaquin

    2016-01-01

    Cryptococcosis is a cosmopolitan but rare opportunistic mycosis which is usually caused by Cryptococcus neoformans. Although the most common and worrisome disease manifestation is meningoencephalitis, pulmonary cryptococcosis has the potential to be lethal. The diagnosis of cryptococcal pneumonia is challenging, given its non-specific clinical and radiographic features. Respiratory failure leading to acute respiratory distress syndrome as a consequence of cryptococcal disease has been infrequently addressed in the literature. We herein present a case of disseminated cryptococcal infection leading to acute respiratory distress syndrome, refractory shock, and multiorgan dysfunction as the initial clinical manifestation in a patient who was newly diagnosed with acquired immunodeficiency syndrome. PMID:27086819

  8. 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.

  9. EEC syndrome sans clefting: Variable clinical presentations in a family

    Directory of Open Access Journals (Sweden)

    Thakkar Sejal

    2007-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly, epiphora, hair changes and deafness with variable involvement in each family member.

  10. Present status of clinical deployment of glucokinase activators.

    Science.gov (United States)

    Nakamura, Akinobu; Terauchi, Yasuo

    2015-03-01

    Glucokinase is one of four members of the hexokinase family of enzymes. Its expression is limited to the major organs (such as the pancreas, liver, brain and the gastrointestinal tract) that are thought to have an integrated role in glucose sensing. In the liver, phosphorylation of glucose by glucokinase promotes glycogen synthesis, whereas in the β-cells, it results in insulin release. Studies of glucokinase-linked genetically-modified mice and mutations in humans have illustrated the important roles played by glucokinase in whole-body glucose homeostasis, and suggest that the use of pharmacological agents that augment glucokinase activity could represent a viable treatment strategy in patients with type 2 diabetes. Since 2003, many glucokinase activators (GKAs) have been developed, and their ability to lower the blood glucose has been shown in several animal models of type 2 diabetes. Also, we and others have shown in mouse models that GKAs also have the effect of stimulating the proliferation of β-cells. However, the results of recent phase II trials have shown that GKAs lose their efficacy within several months of use, and that their use is associated with a high incidence of hypoglycemia; furthermore, patients treated with GKAs frequently developed dyslipidemia. A better understanding of the role of glucokinase in metabolic effects is required to resolve several issues identified in clinical trials. PMID:25802718

  11. 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

  12. Intracranial actinomycosis: Varied clinical and radiologic presentations in two cases

    Directory of Open Access Journals (Sweden)

    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.

  13. Clinical Predictors for Delayed or Inappropriate Initial Diagnosis of Type A Acute Aortic Dissection in the Emergency Room.

    Directory of Open Access Journals (Sweden)

    Kazuhito Hirata

    Full Text Available Initial diagnosis of acute aortic dissection (AAD in the emergency room (ER is sometimes difficult or delayed. The aim of this study is to define clinical predictors related to inappropriate or delayed diagnosis of Stanford type A AAD.We conducted a retrospective analysis of 127 consecutive patients with type A AAD who presented to the ER within 12 h of symptom onset (age: 69.0 ± 15.4 years, male/female = 49/78. An inappropriate initial diagnosis (IID was considered if AAD was not included in the differential diagnosis or if chest computed tomography or echocardiography was not performed as initial imaging tests. Clinical variables were compared between IID and appropriate diagnosis group. The time to final diagnosis (TFD was also evaluated. Delayed diagnosis (DD was defined as TFD > third quartile. Clinical factors predicting DD were evaluated in comparison with early diagnosis (defined as TFD within the third quartile. In addition, TFD was compared with respect to each clinical variable using a rank sum test.An IID was determined for 37% of patients. Walk-in (WI visit to the ER [odds ratio (OR 2.6, 95% confidence interval (CI = 1.01-6.72, P = 0.048] and coronary malperfusion (CM, OR = 6.48, 95% CI = 1.14-36.82, P = 0.035 were predictors for IID. Overall, the median TFD was 1.5 h (first/third quartiles = 0.5/4.0 h. DD (>4.5 h was observed in 27 cases (21.3%. TFD was significantly longer in WI patients (median and first/third quartiles = 1.0 and 0.5/2.85 h for the ambulance group vs. 3.0 and 1.0/8.0 h for the WI group, respectively; P = 0.003. Multivariate analysis revealed that WI visit was the only predictor for DD (OR = 3.72, 95% CI = 1.39-9.9, P = 0.009. TFD was significantly shorter for appropriate diagnoses than for IIDs (1.0 vs. 6.0 h, respectively; P < 0.0001.WI visit to the ER and CM were predictors for IID, and WI was the only predictor for DD in acute type A AAD in the community hospital.

  14. AN UNUSUAL CLINICAL PRESENTATION OF GROUP A STREPTOCOCCAL INFECTION

    OpenAIRE

    H.V., Prashanth; R.M, Saldanha Dominic; Shenoy, Shalini; Baliga, Shrikala

    2011-01-01

    After two decades of decline of Group A streptococcal infections, the recent years are witnessing a resurgence in the incidence and severity of infections caused by Group A Streptococcus including necrotizing fasciitis and streptococcal toxic shock syndrome sometimes with fatal outcomes. We present an unusual case of Group A streptococcal infection in a 4-year-old boy who did not have any predisposing factors for Group A streptococcal infection.

  15. EEC syndrome sans clefting: Variable clinical presentations in a family

    OpenAIRE

    Thakkar Sejal; Marfatia Yogesh

    2007-01-01

    Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son prese...

  16. 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

  17. DIAGNOSIS AND TREATMENT OF METACHRONOUS TESTICULAR CANCER: A CLINICAL CASE

    Directory of Open Access Journals (Sweden)

    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.

  18. Digital Device in Postextraction Implantology: A Clinical Case Presentation

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    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. Cytological diagnosis of bancroftian filariasis presented as a subcutaneous swelling in the cubital fossa: an unusual presentation

    OpenAIRE

    Pandey, Pinki; Dixit, Alok; Chandra, Subrat; Tanwar, Aparna

    2015-01-01

    Filariasis is a disabling parasitic disease and the prevalence of lymphatic filariasis caused by Wuchereria bancrofti is quite high in India. However, W. bancrofti presenting as a subcutaneous swelling and a demonstration of microfilariae in cytological smears from upper extremity lesions is extremely rare. We report a case of 20-year-old male who presented with a small subcutaneous swelling near medial aspect of the left cubital fossa. The wet mount preparation showed many motile microfilari...

  20. Graphospasm - clinical presentation, etiology and the course of disease: Analysis of 30 cases

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    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

  1. 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

  2. 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

  3. The use of cyclosporine modifies the clinical and histopathological presentation of tuberculosis after renal transplantation

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    BIZ Eloir

    2000-01-01

    Full Text Available Tuberculosis is one of the most frequent opportunistic infections after renal transplantation and occurred in 30 of 1264 patients transplanted between 1976 and 1996 at Hospital São Paulo - UNIFESP and Hospital Dom Silvério, Brazil. The incidence of 2.4% is five times higher than the Brazilian general population. The disease occurred between 50 days to 18 years after the transplant, and had an earlier and worse development in patients receiving azathioprine, prednisone and cyclosporine, with 35% presenting as a disseminated disease, while all patients receiving azathioprine and prednisone had exclusively pulmonary disease. Ninety percent of those patients had fever as the major initial clinical manifestation. Diagnosis was made by biopsy of the lesion (50%, positivity to M. tuberculosis in the sputum (30% and spinal cerebral fluid analysis (7%. Duration of treatment ranged from 6 to 13 months and hepatotoxicity occurred in 3 patients. The patients who died had a significant greater number of rejection episodes and received higher doses of corticosteroid. In conclusion, the administration of cyclosporine changed the clinical and histopathological pattern of tuberculosis occurring after renal transplantation.

  4. Clinical study and image diagnosis of nasal bone fracture

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    Ogawa, Takenori; Suzuki, Naohiro; Okitsu, Takuji [Sendai City Hospital (Japan)

    2002-01-01

    In this study we reviewed the clinical features, diagnoses and treatments of 232 cases of nasal bone fracture cases treated at our department from January 1994 to June 2000. A marked predominance of males in the age range of 10-29 years was noted. Analysis of the causes of the nasal fractures were attributed to fighting (66 cases), traffic accidents (64 cases), sports (56 cases) and others (46 cases). The external appearance of nasal fractures were divided into 5 types, 85 cases of the displacement type, 27 cases of the depressed type, 32 of the mixed type, 56 of the non-deformation type and 32 of the unclassified type because of facial swelling. The sensitivity of conventional X-ray examination in identifying nasal fractures was 75.6%. Computed tomography scan (CT scan) was performed in 196 patients and showed that the middle and lower portions of nasal bones were fractured more easily than those of the upper portion. Nasal septum fracture occurred in 22 cases (11.2%). Other facial fractures combined with nasal fracture were found in 40 cases (20.4%). The type of combined fracture depended on the cause of the injury, for example, the combination of nasal and blow-out fracture was often caused by fighting, and many combined fractures of more than two facial bones resulted from traffic accidents. A total of 83 patients (35.8%) received reduction of the nasal bone fractures under general anaesthesia. The measurement of irradiation of each radiological examination revealed that the exposed dose of the newest model CT was similar to that of the conventional X-ray examination and tomography. (author)

  5. Excavated pulmonary nodules: an unusual clinical presentation of lung metastasis in two cases

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    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.

  6. Giant thalamic hydatid cyst: a rare clinical presentation

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    Chetana Krishnegowda

    2016-09-01

    Full Text Available Hydatid disease is a parasitic infestation caused by tapeworm Echinococcus. Cystic hydatidosis commonly involves liver and lungs and rarely the brain. A young female patient presented with progressive weakness of left upper and lower limb of one and half year duration at the time of admission. On evaluation, computed tomography (CT scan of the brain showed a giant thalamic cystic lesion in the right cerebral hemisphere. Patient underwent right frontal craniotomy and excision of the cyst immediately. Histopathology was suggestive of hydatid cyst. Patient's neurological condition improved and was subsequently treated with oral anti-helminthics. Surgical excision is the standard care of treatment. [Int J Res Med Sci 2016; 4(9.000: 4187-4191

  7. Paroxysmal hemicrania as the clinical presentation of giant cell arteritis

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    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.

  8. A rare presentation of clinically intractable hypertension: Pancreatic paraganglioma

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    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.

  9. Clinical Value of the Ottawa Ankle Rules for Diagnosis of Fractures in Acute Ankle Injuries

    OpenAIRE

    Xin Wang; Shi-min Chang; Guang-rong Yu; Zhi-tao Rao

    2013-01-01

    BACKGROUND: The Ottawa ankle rules (OAR) are clinical decision guidelines used to identify whether patients with ankle injuries need to undergo radiography. The OAR have been proven that their application reduces unnecessary radiography. They have nearly perfect sensitivity for identifying clinically significant ankle fractures. OBJECTIVES: The purpose of this study was to assess the applicability of the OAR in China, to examine their accuracy for the diagnosis of fractures in patients with a...

  10. New PCR Test That Recognizes All Human Prototypes of Enterovirus: Application for Clinical Diagnosis

    OpenAIRE

    Bourlet, Thomas; Caro, Valerie; Minjolle, Sophie; Jusselin, Isabelle; Pozzetto, Bruno; Crainic, Radu; Colimon, Ronald

    2003-01-01

    We describe a new PCR test (Penter RT-PCR) that recognizes all 64 prototypes of enterovirus. Sixty clinical samples were analyzed in parallel with this Penter RT-PCR and previously described PCR tests: 34 and 32 samples tested positive, respectively. This assay is suitable for use in clinical diagnosis, and its ability to amplify all known serotypes makes it more useful than other consensus PCR tests.

  11. A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.

    Science.gov (United States)

    Karaer, Kadri; Rosti, Rasim Ozgür; Torun, Deniz; Sanal, Hatice Tuba; Bahçe, Muhterem; Güran, Sefik

    2011-01-01

    The oto-spondylo-mega-epiphyseal-dysplasia (OSMED) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss. A 3.5-year-old girl born to consanguineous Turkish parents had characteristic facial features at birth: mid-face hypoplasia, mild hypertelorism, upslanting palpebral fissures, prominent supraorbital ridges, depressed nasal bridge, small upturned nasal tip, long philtrum, and micrognathia. Radiological examination at three years of age revealed large flaring metaphyses and wide flat epiphyses. The humerus and femur showed the characteristic dumbbell shape. She had bilateral hearing loss with no ophthalmologic findings. There is continuing debate over the clinical overlap and differential diagnosis of OSMED syndrome. The patient was examined considering Weissenbacher-Zweymuller, Stickler type 3, Marshall syndrome, and Kniest dysplasia as possible differential diagnoses. We believe that the presented patient clinically manifested features of OSMED syndrome. We would like to point out that the management of OSMED calls for a coordinated multidisciplinary approach. PMID:21980822

  12. Technologies for Clinical Diagnosis Using Expired Human Breath Analysis.

    Science.gov (United States)

    Mathew, Thalakkotur Lazar; Pownraj, Prabhahari; Abdulla, Sukhananazerin; Pullithadathil, Biji

    2015-01-01

    This review elucidates the technologies in the field of exhaled breath analysis. Exhaled breath gas analysis offers an inexpensive, noninvasive and rapid method for detecting a large number of compounds under various conditions for health and disease states. There are various techniques to analyze some exhaled breath gases, including spectrometry, gas chromatography and spectroscopy. This review places emphasis on some of the critical biomarkers present in exhaled human breath, and its related effects. Additionally, various medical monitoring techniques used for breath analysis have been discussed. It also includes the current scenario of breath analysis with nanotechnology-oriented techniques. PMID:26854142

  13. Technologies for Clinical Diagnosis Using Expired Human Breath Analysis

    Directory of Open Access Journals (Sweden)

    Thalakkotur Lazar Mathew

    2015-02-01

    Full Text Available This review elucidates the technologies in the field of exhaled breath analysis. Exhaled breath gas analysis offers an inexpensive, noninvasive and rapid method for detecting a large number of compounds under various conditions for health and disease states. There are various techniques to analyze some exhaled breath gases, including spectrometry, gas chromatography and spectroscopy. This review places emphasis on some of the critical biomarkers present in exhaled human breath, and its related effects. Additionally, various medical monitoring techniques used for breath analysis have been discussed. It also includes the current scenario of breath analysis with nanotechnology-oriented techniques

  14. [Knowledge discovery in database and its application in clinical diagnosis].

    Science.gov (United States)

    Lui, Hui; Qiu, Tianshuang

    2004-08-01

    Nowadays the tremendous amount of data has far exceeded our human ability for comprehension, and this has been particularly true for the medical database. However, traditional statistical techniques are no longer adequate for analyzing this vast collection of data. Knowledge discovery in database and data mining play an important role in analyzing data and uncovering important data patterns. This paper briefly presents the concepts of knowledge discovery in database and data mining, then describes the rough set theory, and gives some examples based on rough set.

  15. Primitive neuroectodermal tumor of adrenal: Clinical presentation and outcomes

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    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.

  16. Cardiac asthma in elderly patients: incidence, clinical presentation and outcome

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    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.

  17. Demographic and Clinical Correlates of Autism Symptom Domains and Autism Spectrum Diagnosis

    Science.gov (United States)

    Frazier, Thomas W.; Youngstrom, Eric A.; Embacher, Rebecca; Hardan, Antonio Y.; Constantino, John N.; Law, Paul; Findling, Robert L.; Eng, Charis

    2014-01-01

    Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive…

  18. Correspondence between Clinical and Histopathological Diagnosis of Tumors of the Ocular Adnexa

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    Armando Rafael Milanés Armengol

    2015-11-01

    Full Text Available Background: tumors of the ocular adnexa are a common cause of patient visits to the Ophthalmology consultation. An adequate clinical-pathological relationship is important for prognosis. Objective: to describe the correspondence between clinical and histopathological diagnosis of tumors of the ocular adnexa. Methods: a case series study was conducted in patients who underwent a histopathological study due to suspicion of malignancy treated at the Oculoplastic Service of the Ophthalmology Center of the Dr. Gustavo Aldereguía University General Hospital, from January 2014 to the same month of 2015. The variables analyzed were: age, skin color, type of tumor, correspondence between clinical and histopathological diagnosis and safety margin. Results: correspondence between clinical and histopathological diagnosis was 79.1 %. The 40-59 age group was the most affected, with a higher incidence in females. The most common location was the eyelid region in white patients. Benign lesions of the eyelid and conjunctiva predominated. Conjunctival carcinoma and basal cell carcinoma were the most common malignancies; the safety margin was 2.19 %. Conclusions: an adequate correspondence between presumptive and histopathological diagnosis was observed. The safety margin achieved was satisfactory.

  19. Clinical diagnosis of influenza virus infection : evaluation of diagnostic tools in general practice

    NARCIS (Netherlands)

    van Elden, LJR; van Essen, GA; Boucher, CAB; van Loon, AM; Nijhuis, M; Schipper, P; Verheij, TJM; Hoepelman, IM

    2001-01-01

    Background: With the development of new antiviral agents for influenza, the urge for rapid and reliable diagnosis of influenza becomes increasingly important. Respiratory virus infections are difficult to distinguish on clinical grounds General practitioners (GPs) however still depend on their clini

  20. Clinical presentation and endoscopic features of primary gastric Burkitt lymphoma in childhood, presenting as a protein-losing enteropathy: a case report

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    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.

  1. Comparison of the clinical diagnosis and subsequent autopsy findings in medical malpractice.

    Science.gov (United States)

    Pakis, Isil; Polat, Oguz; Yayci, Nesime; Karapirli, Mustafa

    2010-09-01

    The rate of diagnostic error has not declined over the last 30 years despite the improvement in diagnosis methods. Today, the probability to encounter a major diagnostic change in autopsy is still high. The special autopsy that provides clinicians the necessary feedback is performed seldom in our country. This study has been started upon the claim that the malpractice cases in scope of forensic cases could be a very useful database. About 525 cases with faulty medical application that resulted in death have been encountered according to the cases that have been sent to the Forensic Medical Institution, which has been the consultative authority of the Ministry of Justice between the years 2001 and 2005. Among these, 375 cases on which autopsies have been conducted are included in the scope of the study. The cases with and without major diagnostic changes have been compared in aspects of gender, age groups, and period spent in health units. When the concordance between autopsy and clinical diagnosis for the 375 cases that were included in the study is examined, it can be seen that clinical diagnosis is verified with autopsy in 49.1% of the cases whereas neither autopsy nor clinical diagnosis was encountered in 14.7% of them. The diseases where diagnostic faults are mostly encountered are ruptured aortic aneurysm, myocardial infarction and pneumonia. The majority of the cases without a clinical diagnosis comprises of complications that occur after operations. In the study, considerable major diagnostic changes were realized after autopsy, which shows that autopsy has an important place in Turkey in spite of the improved methods of diagnosis. Also, in the cases with major diagnostic changes, the medical malpractice rate was high. This shows that autopsy is influential in revealing medical malpractice failures. In the study, we found out that the number of autopsies was high in the cases with a malpractice claim. We aim to increase this number. We are sure that such

  2. Patterns, Movement and Clinical Diagnosis of Abdominal Adhesions

    Science.gov (United States)

    Wright, Benjamin; Fenner, John; Gillott, Richard; Spencer, Paul; Lawford, Patricia; Bardhan, Karna Dev

    Patterns in normal abdominal movement captured with medical imaging can be recognised by a trained radiologist but the process is time consuming. Abdominal adhesions present a diagnostic problem in which the radiologist is asked to detect abnormal movement that may be indicative of pathology. This paper postulates that the use of image analysis can augment the diagnostic abilities of the radiologist in respect of adhesions. Proof of concept experiments were conducted in-silico to explore the effectiveness of the technique. The results indicate that trained participants are accurate in their assessment of abnormalities when supplied with additional information from image analysis techniques. However without the additional information, participants made incorrect diagnoses on many occasions. ROC methods were used to quantify the outcomes of the in-silico experiment.

  3. Filariasis presenting as acute abdominal pain: The role of imaging and image-guided intervention in diagnosis

    OpenAIRE

    Natasha N. Metha, MD; Vashali S. Dalavi, MD; Nikit P. Mehta, MD

    2016-01-01

    Filariasis is an endemic infection seen in tropical and subtropical regions of the world that presents with lymphatic dysfunction in the form of lymphocoele, hydrocoele, chyluria, or groin lymphadenovarix. We report a case of filariasis with the unusual presentation of acute abdominal pain in which radiographic imaging modalities played a crucial role in diagnosis.

  4. 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.

  5. 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.

  6. Fatal pulmonary embolism in hospitalized patients. Clinical diagnosis versus pathological confirmation

    Directory of Open Access Journals (Sweden)

    Cláudio Tinoco Mesquita

    1999-09-01

    Full Text Available OBJECTIVE - To assess the incidence of fatal pulmonary embolism (FPE, the accuracy of clinical diagnosis, and the profile of patients who suffered an FPE in a tertiary University Hospital. METHODS - Analysis of the records of 3,890 autopsies performed at the Department of General Pathology from January 1980 to December 1990. RESULTS - Among the 3,980 autopsies, 109 were cases of clinically suspected FPE; of these, 28 cases of FPE were confirmed. FPE accounted for 114 deaths, with clinical suspicion in 28 cases. The incidence of FPE was 2.86%. No difference in sex distribution was noted. Patients in the 6th decade of life were most affected. The following conditions were more commonly related to FPE: neoplasias (20% and heart failure (18.5%. The conditions most commonly misdiagnosed as FPE were pulmonary edema (16%, pneumonia (15% and myocardial infarction (10%. The clinical diagnosis of FPE showed a sensitivity of 25.6%, a specificity of 97.9%, and an accuracy of 95.6%. CONCLUSION - The diagnosis of pulmonary embolism made on clinical grounds still has considerable limitations.

  7. Clinical and radiological diagnosis of chronic pneumonia in pneumoconiosis and dust bronchitis

    International Nuclear Information System (INIS)

    Clinical and radiologic symptomatology of chronic pneumonia is described for pneumoconiosis and chronic dust bronchitis. Combined X-ray methods of examination permit the physicians to discover this complication in dust diseases of the lungs in the presence of diffuse pneumosclerotic changes in 76.5+-3 % of cases. These data approach the values of chronic pneumonia incidence among the population. Chronic pneumonia diagnosis should be complex. If no less than 2 to 3 X-ray signs of the disease have been found simultaneously, the significance of radiologic diagnosis of chronic pneumonia in dust pathology of the lungs, rises. Radiologic examination, supported by clinical, anamnestic and laboratory data, allows one to differentiate chronic pneumonia from coniotuberculosis. Chest X-rays in dust pathology of the lungs, complicated by chronic pneumonia, should be carried out with regard to clinical indications

  8. Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis.

    Science.gov (United States)

    Segal, Michael M; Abdellateef, Mostafa; El-Hattab, Ayman W; Hilbush, Brian S; De La Vega, Francisco M; Tromp, Gerard; Williams, Marc S; Betensky, Rebecca A; Gleeson, Joseph

    2015-06-01

    We describe an "integrated genome-phenome analysis" that combines both genomic sequence data and clinical information for genomic diagnosis. It is novel in that it uses robust diagnostic decision support and combines the clinical differential diagnosis and the genomic variants using a "pertinence" metric. This allows the analysis to be hypothesis-independent, not requiring assumptions about mode of inheritance, number of genes involved, or which clinical findings are most relevant. Using 20 genomic trios with neurologic disease, we find that pertinence scores averaging 99.9% identify the causative variant under conditions in which a genomic trio is analyzed and family-aware variant calling is done. The analysis takes seconds, and pertinence scores can be improved by clinicians adding more findings. The core conclusion is that automated genome-phenome analysis can be accurate, rapid, and efficient. We also conclude that an automated process offers a methodology for quality improvement of many components of genomic analysis.

  9. Comparison of clinical and paraclinical parameters as tools for early diagnosis of classical swine fever

    DEFF Research Database (Denmark)

    Lohse, Louise; Uttenthal, Åse; Nielsen, Jens

    Comparison of clinical and paraclinical parameters as tools for early diagnosis of classical swine fever. Louise Lohse, Åse Uttenthal, Jens Nielsen. National Veterinary Institute, Division of Virology, Lindholm, Technical University of Denmark. Introduction: In order to limit the far-reaching socio......-economic as well as the animal welfare consequences of an outbreak of classical swine fever (CSF), early diagnosis is essential. However, host-virus interactions strongly influence the course of CSF disease, and the clinical feature is not clear, thus complicating the diagnostic perspective. At the National...... Veterinary Institute, in Denmark, we are conducting a series of animal experiments under standardized conditions in order to investigate new parameters of clinical as well as paraclinical nature that holds the potential as diagnostic tools to improve early detection of CSF. In three recent studies, weaned...

  10. Osteomyelitis in the neonate. Clinical aspects and the role of radiography and scintigraphy in diagnosis and management

    International Nuclear Information System (INIS)

    Based on experience with 22 cases of neonatal osteomyelitis in 10 years, the authors suggest these patients can be divided into two groups depending on severity of disease. Premature infants requiring umbilical catheterization and severely ill full-term infants constitute a high-risk group; signs are more overt, multifocal infection and joint involvement more frequent, and severe skeletal deformities more common. The patients in the low-risk group had much milder disease but also presented more difficulty in diagnosis because of the vagueness of the presenting signs. Radiographic examination is essential for diagnosis and follow-up of osteomyelitis, particularly limb deformities. Bone scans should be reserved for situations in which the clinical and radiographic findings are equivocal

  11. Clinical and imaging diagnosis of IgG4-related disease in the head and neck

    International Nuclear Information System (INIS)

    IgG4-related disease in the head and neck is a newly recognized multi-organ system disease characterized by elevated serum IgG4, infiltration of numerous IgG4-positive plasma cells, tissue fibrosis, and dramatic response to corticosteroid treatment. IgG4-related disease of the head and neck has some relative characteristics on CT and MRI, which can provide valuable information for the diagnosis and differential diagnosis, and are helpful for the clinical treatment, evaluation of therapeutic effects and prediction of prognosis. (authors)

  12. Mucocutaneous Leishmaniasis: clinical markers in presumptive diagnosis Leishmaniose mucosa: marcadores clínicos no diagnóstico presuntivo

    OpenAIRE

    João Luiz Cioglia Pereira Diniz; Manoel Otávio da Rocha Costa; Denise Utsch Gonçalves

    2011-01-01

    Mucocutaneous Leishmaniasis (ML) can lead to serious sequela; however, early diagnosis can prevent complications. AIM: To evaluate clinical markers for the early diagnosis of ML. MATERIALS AND METHODS: A series study of 21 cases of ML, which were evaluated through clinical interview, nasal endoscopy, biopsy and the Montenegro test. RESULTS: A skin scar and previous diagnosis of cutaneous leishmaniasis (CL) were reported in 8(38%) patients, and 13(62%) of them denied having had previous CL and...

  13. 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.

  14. Brugada syndrome in the paediatric population: a comprehensive approach to clinical manifestations, diagnosis, and management.

    Science.gov (United States)

    Gonzalez Corcia, M Cecilia; de Asmundis, Carlo; Chierchia, Gian-Battista; Brugada, Pedro

    2016-08-01

    Brugada syndrome is an inherited arrhythmogenic disorder, characterised by coved-type ST-segment elevation in the right precordial leads, and is associated with increased risk of sudden death. It is genetically and clinically heterogeneous, presenting typically in the fourth or fifth decade of life. The prevalence of Brugada syndrome in the paediatric population is low compared with the adult population. Interestingly, over the last several years, there has been growing evidence in the literature of onset of the disease during childhood. Most of the paediatric cases reported in the literature consist of asymptomatic Brugada syndrome; however, some patients manifest the disease at different regions of the cardiac conduction system at a young age. Early expression of the disease can be affected by multiple factors, including genetic substrate, hormonal changes, and still unknown environmental exposures. The initial manifestation of Brugada syndrome in children can include sinus node dysfunction and atrial arrhythmias. Brugada syndrome can also manifest as ventricular arrhythmias leading to sudden death at an early age. In symptomatic children, performance of the ajmaline test by an experienced team can be safely used as a diagnostic tool to unmask latent Brugada syndrome. Defining indications for an implantable cardioverter defibrillator in children with the diagnosis of Brugada syndrome remains challenging. Given the rarity of the syndrome in children, most paediatric cardiologists will only rarely see a young patient with Brugada syndrome and there is still no universal consensus regarding the optimal management approach. Care should be individualised according to the specific clinical presentation, taking into account the family history, genetic data, and the family's specific preferences. PMID:27151277

  15. ACE-I Angioedema: Accurate Clinical Diagnosis May Prevent Epinephrine-Induced Harm

    Directory of Open Access Journals (Sweden)

    R. Mason Curtis

    2016-06-01

    Full Text Available Introduction: Upper airway angioedema is a life-threatening emergency department (ED presentation with increasing incidence. Angiotensin-converting enzyme inhibitor induced angioedema (AAE is a non-mast cell mediated etiology of angioedema. Accurate diagnosis by clinical examination can optimize patient management and reduce morbidity from inappropriate treatment with epinephrine. The aim of this study is to describe the incidence of angioedema subtypes and the management of AAE. We evaluate the appropriateness of treatments and highlight preventable iatrogenic morbidity. Methods: We conducted a retrospective chart review of consecutive angioedema patients presenting to two tertiary care EDs between July 2007 and March 2012. Results: Of 1,702 medical records screened, 527 were included. The cause of angioedema was identified in 48.8% (n=257 of cases. The most common identifiable etiology was AAE (33.1%, n=85, with a 60.0% male predominance. The most common AAE management strategies included diphenhydramine (63.5%, n=54, corticosteroids (50.6%, n=43 and ranitidine (31.8%, n=27. Epinephrine was administered in 21.2% (n=18 of AAE patients, five of whom received repeated doses. Four AAE patients required admission (4.7% and one required endotracheal intubation. Epinephrine induced morbidity in two patients, causing myocardial ischemia or dysrhythmia shortly after administration. Conclusion: AAE is the most common identifiable etiology of angioedema and can be accurately diagnosed by physical examination. It is easily confused with anaphylaxis and mismanaged with antihistamines, corticosteroids and epinephrine. There is little physiologic rationale for epinephrine use in AAE and much risk. Improved clinical differentiation of mast cell and non-mast cell mediated angioedema can optimize patient management.

  16. The clinical diagnosis and treatment about 22 cases of limbic encephalitis were retrospectively analyzed.

    Science.gov (United States)

    Zang, Weiping; Zhang, Zhijun; Feng, Laihui; Zhang, Ailing

    2016-03-01

    To summarize and analyze the clinical characteristics and treatment of limbic encephalitis, in order to provide the basis for clinical work. We retrospectively analyzed the clinical characteristics, magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) and self immune antibody results of 22 patients with limbic encephalitis in Zheng zhou people's Hospital from March 2013 to May 2014. 22 cases of patients with psychiatric disturbance, such as hallucinations being typical clinical manifestations: Memory decline in 18 cases: Seizures in 13 patients: Altered level of consciousness in 10 cases; Movement disorders in 7 cases and 9 cases with febrile.14 cases have relieved after treating with antiviral and immunosuppressive therapy, 5 cases left memory decline, 2 patients left overwhelmingly excited, 1 cases of seizures. The clinical symptoms of patients with limbic encephalitis are complicated changeable and unspecific. so earlier diagnosis and treatment are very important for the prognosis of patients.

  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. The accuracy of clinical diagnosis of discal sciatic neuralgia at construction labors: a comparison study

    Directory of Open Access Journals (Sweden)

    A. Khalvat

    2006-08-01

    Full Text Available Background: Mechanical low back pain (L.B.P is most common in middle-aged people especially in developing countries and the symptom compromises routine life activities of the patients. Disk herniation is the most frequent cause of LBP. The less costly way for diagnosing the cause of LBP is performing a careful physical examinations. This study aimed to evaluate the sensitivity and specificity of clinical diagnosis of the cause of Discal Sciatic Neuralgia at Construction Labors in comparison to MRI as the gold standard. Methods: In a descriptive- analytic study 60 middle-aged professional construction workers were evaluated. Their age range was 25-45 years old and all of them had the complaint of mechanical LBP. Medical history was taken and all cases under went a cautious physical examination. The presence of disk herniation between L4-L5 orL5-S1 was recorded according to clinical signs and symptoms. Lumbosacral MRI was performed for all cases and the results were compared to clinical data. Results: The clinical diagnosis of presence and severity of pathology was confirmed by MRI in all stages of discopathy in L5-S1 and L4-L5 vertebrae (sensitivity= 100%. Conclusion: This study showed that careful physical examinations will be sufficient for the sciatic neuralgia diagnosis and even the staging of disk herniation can be performed clinically. Requesting MRI as an expensive procedure is not recommended for diagnosis of Discal sciatic neuralgia because of feasibility of the cost effective way of precise physical examination.

  19. Anticoagulation control in atrial fibrillation patients present to outpatient clinic of cardiology versus anticoagulant clinics

    Institute of Scientific and Technical Information of China (English)

    DU Xin; MA Chang-sheng; LIU Xiao-hui; DONG Jian-zeng; WANG Jun-nan; CHENG Xiao-jing

    2005-01-01

    @@ Nonvalvular atrial fibrillation (NVAF) is the most common sustained cardiac arrhythmia in clinical practice, which if untreated results in a doubling of cardiovascular morbidity and mortality. AF is an independent predictor of stroke, with an annual risk 5 to 6 times higher than patients in sinus rhythm.1 During recent years, several randomised clinical trials conducted by investigators around the world involving 13 843 participants with NVAF have demonstrated convincingly the value of warfarin therapies for stroke prevention in high risk patients.2-8 However, the dose response of warfarin is complex and its activity is easily altered by concurrent medications, food interactions, alcohol and illnesses. Adherence to medical advice and routine monitoring of the international normalized ratio (INR) is important, because low anticoagulant intensity predisposes the patients to thromboembolic complications and high intensity to haemorrhage. Studies suggested that anticoagulant clinics could improve the quality of anticoagulation control,9 and anticoagulant clinics are common in western countries. However, in China, most AF patients taking warfarin usually attend the outpatient clinic of cardiology, while the quality of anticoagulation control is never investigated. We therefore assessed anticoagulation control in the outpatient clinic of cardiology, and the quality of anticoagulation control since the establishment of anticoagulant clinics.

  20. Application of PCR-based methods for diagnosis of intestinal parasitic infections in the clinical laboratory.

    Science.gov (United States)

    Verweij, Jaco J

    2014-12-01

    For many years PCR- and other DNA-based methods of pathogen detection have been available in most clinical microbiology laboratories; however, until recently these tools were not routinely exploited for the diagnosis of parasitic infections. Laboratories were initially reluctant to implement PCR as incorporation of such assays within the algorithm of tools available for the most accurate diagnosis of a large variety of parasites was unclear. With regard to diagnosis of intestinal parasitic infections, the diversity of parasites that one can expect in most settings is far less than the parasitological textbooks would have you believe, hence developing a simplified diagnostic triage is feasible. Therefore the classical algorithm based on population, patient groups, use of immuno-suppressive drugs, travel history etc. is also applicable to decide when to perform and which additional techniques are to be used, if a multiplex PCR panel is used as a first-line screening diagnostic.

  1. Case Report: Myelodysplastic syndrome- associated myeloid sarcoma: an unusual clinical presentation of a rare disease.

    Science.gov (United States)

    Horvath, Emoke; Demian, Smaranda; Nagy, Elod

    2016-01-01

    Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid precursors. We present the timeline, events and diagnostic pitfalls related to a 66 year-old male patient's case, admitted to the Hematology Clinic for pancytopenia, fever, weight loss and fatigue. The severe cytopenia and the few blasts observed in his blood smear indicated a bone marrow biopsy. The bone marrow showed hypercellularity and multilineage dysplasia with the presence of 15% myeloblasts. After the biopsy, he promptly developed paraplegia and nuclear magnetic resonance revealed an epidural tumour which was then resected.In the epidural tumour mass blast-like, round cells were observed with a complex immunophenotype, characterized by myeloperoxidase, CD117, CD15, CD99, leucocyte common antigen positivity and a high Ki-67 proliferation index. Considering the main differential diagnostic issues, the final diagnosis was stated as myelodysplastic syndrome-associated myeloid sarcoma. The prognosis was unfavourable, the bone marrow was quickly invaded by proliferating blast cells, and despite chemotherapy attempts, the patient died. PMID:27019694

  2. Case Report: Myelodysplastic syndrome- associated myeloid sarcoma: an unusual clinical presentation of a rare disease.

    Science.gov (United States)

    Horvath, Emoke; Demian, Smaranda; Nagy, Elod

    2016-01-01

    Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid precursors. We present the timeline, events and diagnostic pitfalls related to a 66 year-old male patient's case, admitted to the Hematology Clinic for pancytopenia, fever, weight loss and fatigue. The severe cytopenia and the few blasts observed in his blood smear indicated a bone marrow biopsy. The bone marrow showed hypercellularity and multilineage dysplasia with the presence of 15% myeloblasts. After the biopsy, he promptly developed paraplegia and nuclear magnetic resonance revealed an epidural tumour which was then resected.In the epidural tumour mass blast-like, round cells were observed with a complex immunophenotype, characterized by myeloperoxidase, CD117, CD15, CD99, leucocyte common antigen positivity and a high Ki-67 proliferation index. Considering the main differential diagnostic issues, the final diagnosis was stated as myelodysplastic syndrome-associated myeloid sarcoma. The prognosis was unfavourable, the bone marrow was quickly invaded by proliferating blast cells, and despite chemotherapy attempts, the patient died.

  3. Hospital-associated funguria: analysis of risk factors, clinical presentation and outcome

    Directory of Open Access Journals (Sweden)

    Mauricio Carvalho

    2001-12-01

    Full Text Available Fungal urinary tract infections are an increasing problem in hospitalized patients. Funguria may be a result of contamination of the urine specimen, colonization of the urinary tract, or may be indicative of true invasive infection. In this study, we report the risk factors, clinical features, treatments and outcome in a group of 68 hospitalized patients (adults and children with fungal isolates recovered from 103 urinary samples. Underlying medical conditions were present in most patients. In the pediatric group, urinary tract abnormalities (86% and prematurity (19% accounted for the majority of the cases. Diabetes mellitus (28%, nephrolithiasis, and benign prostatic hyperplasia were the most common diseases in adults. Indwelling urethral catheters were noted in 38% of the pediatric patients and in 43% of adults during hospitalization. Candida albicans strains were responsible for 97% and 75% of positive cultures in children and adults, respectively. Symptoms such as fever, dysuria, frequency and flank pain were generally absent in both groups. Fluconazole was the most frequent antifungal utilized (61% in children and ketoconazole in the adult group (42%. Removing the urinary catheter was attempted in 6 pediatric patients (29% and in only 8 adults (17%. One patient (4% in the pediatric group died compared to 10 in the adult group (21%, p=0.04. Successful diagnosis and treatment of funguria depends on a clear understanding of the risk factors and awareness of fungal epidemiology.

  4. Clinical Presentation, Management, and Outcomes of Deep Vein Thrombosis Based on Doppler Ultrasonography Examination.

    Science.gov (United States)

    Al-Thani, Hassan; El-Menyar, Ayman; Asim, Mohammad; Kiliyanni, Abdul Salim

    2016-07-01

    We studied the frequency, clinical presentation, and outcomes of deep vein thrombosis (DVT). Serial Doppler ultrasonography was performed between 2008 and 2013 for 6420 patients with suspected DVT. Diagnosis was confirmed in 662 (10.3%) participants (mean age: 50 ± 17 years; 51% females). Obesity, diabetes mellitus, and malignancy were reported in 47%, 28%, and 16%, respectively. Abnormal protein C, protein S, factor V Leiden, or antithrombin III were found in 9%, 7%, 3.8%, and 4%, respectively. Left, right, and both legs were involved in 55%, 37%, and 8%, respectively. Common femoral, popliteal, and posterior tibial veins were affected in 48.5%, 72%, and 71%, respectively. Postthrombotic syndrome, pulmonary embolism, and death were reported in 50%, 12.2%, and 15% of cases, respectively. Kaplan-Meier survival curves and Cox regression analysis showed that gender had no impact on mortality during follow-up; however, age (>50 years) was associated with greater risk of death (hazard ratio: 6.54; 95% confidence interval: 3.2-13.3). These findings will improve our understanding of the various risk factors and help develop institutional guidelines for the management of patients with DVT. PMID:26345414

  5. [The evolution of the borderline personality disorder diagnosis: past, present and future].

    Science.gov (United States)

    Matusevich, Daniel; Ruiz, Martín; Vairo, María C

    2010-01-01

    The purpose of this paper is to go along the different senses and meanings that borderline diagnosis has had across time. On behalf of this, many original papers as well as textbooks and other works are analyzed, to define the way and significant points in the discovery or construction of this critical pathology, that even today still divides the opinions in health world community. From Prichard, to Stern, Deutsch, Grinker and Knight, till Kernberg, Gunderson, Linehan and Fonagy we try to put clear the most important contributions of each author.

  6. Clinical presentation of genital warts among circumcised and uncircumcised heterosexual men attending an urban STD clinic.

    OpenAIRE

    Cook, L. S.; Koutsky, L A; Holmes, K. K.

    1993-01-01

    INTRODUCTION--A recent study comparing heterosexual men with and without confirmed sexually transmitted diseases (STDs) in an urban STD clinic showed that uncircumcised men were less likely than circumcised men to have genital warts detectable by clinical examination (adjusted odds ratio 0.7, 95% confidence interval 0.4, 0.9). Based on these initial findings we hypothesised that the appearance and anatomic distribution of genital warts, and possibly treatment response, may be different for ci...

  7. Positron Emission Tomography (PET) and its application in clinical diagnosis and functional brain organization studies

    International Nuclear Information System (INIS)

    Recent advances in positron emission tomography (PET) and other brain-imaging techniques have made it possible to visualize the working brain while the human subject is thinking, speaking or planning an action. PET provides researches with an opportunity to infer the neuroanatomy of a given function. Subjects either inhale or are injected with a radioactive material that binds to a physiologically active compound in the body. This serves as a tracer of blood flow and metabolic processes that reflect the activation of a given structure by emitting gamma rays which may be detected through a tomograph. PET research has produced findings that extend our knowledge on several important issues such as cerebral representation of language, perception, attention or memory. It has also proven to be an important source of information for clinical diagnosis of various neurological and psychiatric diseases. The present article provides a short review of main achievements in those fields. However, functional brain imaging is not exempt from methodological and theoretical difficulties. The main limitations of the method have been outlined. (author)

  8. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

    DEFF Research Database (Denmark)

    Meeths, Marie; Entesarian, Miriam; Al-Herz, Waleed;

    2010-01-01

    patients with mutations in STXBP2 encoding Munc18-2, recently associated with familial HLH type 5. The disease severity among 11 persons studied here was highly variable and, accordingly, age at diagnosis ranged from 2 months to 17 years. Remarkably, in addition to typical manifestations of familial HLH......-associated functional defects. In conclusion, familial HLH type 5 is associated with a spectrum of clinical symptoms, which may be a reflection of impaired expression and function of Munc18-2 also in cells other than cytotoxic lymphocytes. Mutations in STXBP2 should thus also be considered in patients with clinical...

  9. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

    Science.gov (United States)

    Castro-Fernández, Cristina; Arias, Manuel; Blanco-Arias, Patricia; Santomé-Collazo, Luis; Amigo, Jorge; Carracedo, Ángel; Sobrido, Maria-Jesús

    2015-06-01

    Next generation sequencing (NGS) is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genetic findings. We report a patient with spastic paraplegia whose comprehensive neurological and imaging examination raised a high clinical suspicion of SPG11. Thus, although our NGS pipeline for this group of disorders includes gene panel and exome sequencing, in this sample only the spatacsin gene region was captured and subsequently searched for mutations. Two probably pathogenic variants were quickly and clearly identified, confirming the diagnosis of SPG11. This case illustrates how combination of expert clinical characterization with highly oriented NGS protocols leads to a fast, cost-efficient diagnosis, minimizing the risk of findings with unclear significance.

  10. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

    Directory of Open Access Journals (Sweden)

    Cristina Castro-Fernández

    2015-06-01

    Full Text Available Next generation sequencing (NGS is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genetic findings. We report a patient with spastic paraplegia whose comprehensive neurological and imaging examination raised a high clinical suspicion of SPG11. Thus, although our NGS pipeline for this group of disorders includes gene panel and exome sequencing, in this sample only the spatacsin gene region was captured and subsequently searched for mutations. Two probably pathogenic variants were quickly and clearly identified, confirming the diagnosis of SPG11. This case illustrates how combination of expert clinical characterization with highly oriented NGS protocols leads to a fast, cost-efficient diagnosis, minimizing the risk of findings with unclear significance.

  11. Palatal radicular groove: Clinical implications of early diagnosis and surgical sealing

    Directory of Open Access Journals (Sweden)

    P Corrêa-Faria

    2011-01-01

    Full Text Available Palatal radicular groove is a discreet alteration in tooth morphology, characterized by an invagination that begins near the cingulum of the tooth and moves in an apical direction. Clinically, palatal radicular groove may be associated with periodontal and/or endodontic problems. This paper describes a clinical case of a young patient with palatal radicular groove with no signs of periodontal disease or endodontic impairment. An early diagnosis was made and treatment consisted of surgical sealing of the defect. After a 2-year period, reexaminations demonstrated adequate hygiene, maintenance of tooth vitality and periodontal health. The early diagnosis and sealing of the groove observed surgically made the root surface smooth, avoiding subgingival bacterial plaque buildup, and preventing possible periodontal and/or pulp impairment stemming from the defect.

  12. Clinical Significance of Detection of Serum TBA and ALP in Diagnosis of Intrahepatic Cholestasis of Pregnancy

    International Nuclear Information System (INIS)

    To investigate the clinical value of serum total bile acid (TBA) and alkaline phosphatase (ALP) in diagnosis of intahrpatic cholestasis of pregnancy (ICP), the serum levels of TBA, ALP and cholyglycine (CG) in 47 cases with intahrpatic cholestasis of pregnancy and 60 normal pregnant women were tested by biochemistry analysis and radioimmunoassay. The results showed that the serum levels of TBA and ALP in patients with intahrpatic cholestasis of pregnancy were significantly higher than that of normal pregnancy women. There was a positively correlation between TBA and ALP with CG. The combined determination of serum TBA and ALP could be useful in the diagnosis of intahrpatic cholestasis of pregnancy. Automatic biochemistry analysis of TBA and ALP is more simple and rapid than CG detected by radioimmunoassay,and it is suitable for clinical laboratory application. (authors)

  13. Clinical application of CT virtual endoscopy in the diagnosis of aortic diseases

    International Nuclear Information System (INIS)

    Objective: To evaluate the display ability and the clinical application of CT virtual endoscopy (CTVE) in the diagnosis of aortic disease. Methods: In this group, 147 cases with clinically suspected aortic disease (113 males, 34 females) underwent CTVE and 58 cases had DSA for comparison. 37 cases were confirmed by operation. Results: (1) In the 147 cases, 139 cases showed successful CTVE images. (2) CTVE images could clearly show the inner wall and inner structures of the vessels, the true and false luminal of aortic dissections, and the lesion of false aneurysm. Conclusion: CTVE could provide more information of the vessel by displaying the inner wall and allowing users to map the vessels in a display. It is helpful in correct diagnosis and guiding surgery

  14. [Diagnosis and molecular epidemiology of viral gastroenteritis in the past, present and future].

    Science.gov (United States)

    Ushijima, Hiroshi

    2009-06-01

    Outline, history of research, diagnosis and molecular epidemiology of viral gastroenteritis were described. Rotavirus, adenovirus, norovirus, sapovirus, astrovirus, human parechovirus, Aichivirus, and human bocavirus are the major target viruses which cause acute gastroenteritis. The viruses were differentiated into genogroup, genotypes and subgenotypes/clusters/lineages. The changing of their genetic backgrounds was well recognized in different areas and years. Some reassortments or recombinations were observed not only between humans and humans but also between humans and animals. Viral gastroenteritis diseases were transmitted by food-borne and humans to humans contact. The environmental factors were also impacted on the infections. Recently, situation of the diseases in the natural ecosystem is becoming clearly. Diagnoses by immunological methods and gene technology are available for the known viruses. Further development of diagnosis and discovery of new viruses will be expected. Therefore, the research on molecular epidemiology is needed to be conducted continuously and then new findings will appear. We need to precede the research by using new techniques and we need to cope with the demand of society especially during acute gastroenteritis outbreak seasons. PMID:19927992

  15. Clinical Presentation of Novel Influenza A (H1N1 in Hospitalized Children

    Directory of Open Access Journals (Sweden)

    Marzieh Akbarpour

    2011-06-01

    Full Text Available Objective:Human pandemic influenza H1N1 virus as the cause of febrile respiratory infection ranging from self-limited to severe illness has spread globally during 2009. Signs and symptoms of upper and lower respiratory tract involvement, fever, sore throat, rhinitis, myalgia, malaise, headache, chills and fatigue are common. In this article we report the clinical presentation of Influenza A (H1N1 in our hospitalized children. Methods:Between September and October 2009, all children requiring hospitalization for suspected H1N1 infection were transferred to Pediatric Infectious Diseases ward. For all patients the throat swab was taken for PCR testing to confirm or exclude the diagnosis of H1N1 Influenza A. Case patients consisted of H1N1-positive patients. Age, sex, symptoms, signs, laboratory data, CXR changes, details of therapy, duration of admission and patient outcome were documented. Findings:Twenty patients were H1N1 positive. Mean age of the patients was 65.50±9.8 months. Fever and coughs were with 55% the most commonly reported symptoms. Other presentations included vomiting (55%, abdominal pain (25%, cyanosis and dyspnea (5%, body ache (40%, rhinorrhea (80%, sore throat (35%, head stiffness (5% and loss of conciousness (5%. The median temperature of the patients was 38.5ºC. Chest X-Ray changes were noted in 13 out of 20 patients (65%. Mean leukocyte and platelet was 6475 and 169000 respectively. Seventeen (85% patients were treated with Oseltamivir, 3 patients received adjuvant antibiotics. The mean duration of admission was 3 days. Three patients required intensive care support and all of them expired due to superinfection. Conclusion:Our data confirm that the presentation of influenza in children is variable and 2009 H1N1 influenza may cause leucopenia and thrombocytopenia.

  16. Clinical features and pitfalls in the laboratory diagnosis of dengue in travellers

    Directory of Open Access Journals (Sweden)

    Frank Christina

    2006-07-01

    Full Text Available Abstract Background Several enzyme-linked immunosorbent assay (ELISA-kits are commercially available for the rapid diagnosis of dengue infection, and have demonstrated good sensitivity and specificity in paired serum samples. In practice, however, often only one blood sample is available from febrile travellers returning from dengue endemic areas. Methods To evaluate the diagnostic value of positive dengue antibody-titres performed by a standard ELISA (PanBio IgM- and IgG-ELISA in single serum samples (regarded as "probable infection", 127 positive samples were further analyzed using envelope/membrane IgM-, and nonstructural protein 1 IgM- and IgG-ELISAs, immunofluorescence assays, and real-time reverse transcription polymerase chain reaction assays (RT-PCR. A combination of the test-results served as the diagnostic "gold standard". A total of 1,035 febrile travellers returning from dengue-endemic countries with negative dengue-serology and RT-PCR served as controls to compare clinical and haematological features. Results Overall, only 64 (positive predictive value = 50% of the probable cases were confirmed by additional analysis and 54 (42.5% were confirmed to be "false-positive". Rash was the only clinical feature significantly associated with confirmed dengue fever. The combination of thrombocytopenia and leucopenia was present in 40.4% of confirmed and in 6.1% of false-positive cases. Thus, the positive predictive value for the combination of positive PanBio-ELISA plus the two haematological features was 90.5%. Conclusion The examination of paired serum samples is considered the most reliable serodiagnostic procedure for dengue. However, if only one blood sample is available, a single positive ELISA-result carries a high rate of false-positivity and should be confirmed using a second and more specific diagnostic technique. In the absence of further testing, platelet and white blood cell counts are helpful for the correct interpretation.

  17. Clinical diagnosis of polycystic ovarian syndrome and response to metformin therapy

    International Nuclear Information System (INIS)

    To determine the accuracy of diagnosing polycystic ovarian syndrome (PCOS) predominantly on clinical features and the response to metformin therapy. Women fulfilling the inclusion criteria (oligo/hypomenorrhea, infertility, weight gain, hyperandrogenism) were enrolled. Ultrasound pelvis was obtained in all women. Presence of eight or more multiple follicles in both or one ovary without presence of mature follicle was the cutoff number for positive ultrasound. Thyroid stimulating hormone levels were performed in all patients, and patients with abnormal levels were excluded from the study. Metformin was adjusted to 500 mg thrice daily. Six months later patients were again evaluated for response to metformin therapy and those who failed to conceive were given clomiphene citrate along with metformin. Fertility was re-evaluated at the end of one year. At the start of the study, 81% women had menstrual irregularity and 84% had infertility. Hirsutism was seen in 72% while history of weight gain was present in 62% of patients. Ultrasound evidence of polycystic ovaries was seen in 93% of women. After 6 months of metformin therapy, 80% patients had achieved correction in their menstrual irregularity. After 6 months on metformin alone, 51% patients conceived while an additional 20% conceived on both metformin and clomiphene citrate during next 6 months. Overall fertility rate was 71% at the end of one year. There was statistically significant change in pre-treatment and post-treatment BMI. Combination of three or more of the clinical features (irregular cycles, history of weight gain, infertility and hirsutism) provide an appropriate basis for the diagnosis of PCOS. Metformin alone was an effective treatment for PCOS in this series. (author)

  18. PCR-based techniques for leprosy diagnosis: from the laboratory to the clinic.

    Directory of Open Access Journals (Sweden)

    Alejandra Nóbrega Martinez

    2014-04-01

    Full Text Available In leprosy, classic diagnostic tools based on bacillary counts and histopathology have been facing hurdles, especially in distinguishing latent infection from active disease and diagnosing paucibacillary clinical forms. Serological tests and IFN-gamma releasing assays (IGRA that employ humoral and cellular immune parameters, respectively, are also being used, but recent results indicate that quantitative PCR (qPCR is a key technique due to its higher sensitivity and specificity. In fact, advances concerning the structure and function of the Mycobacterium leprae genome led to the development of specific PCR-based gene amplification assays for leprosy diagnosis and monitoring of household contacts. Also, based on the validation of point-of-care technologies for M. tuberculosis DNA detection, it is clear that the same advantages of rapid DNA detection could be observed in respect to leprosy. So far, PCR has proven useful in the determination of transmission routes, M. leprae viability, and drug resistance in leprosy. However, PCR has been ascertained to be especially valuable in diagnosing difficult cases like pure neural leprosy (PNL, paucibacillary (PB, and patients with atypical clinical presentation and histopathological features compatible with leprosy. Also, the detection of M. leprae DNA in different samples of the household contacts of leprosy patients is very promising. Although a positive PCR result is not sufficient to establish a causal relationship with disease outcome, quantitation provided by qPCR is clearly capable of indicating increased risk of developing the disease and could alert clinicians to follow these contacts more closely or even define rules for chemoprophylaxis.

  19. Clinical features and differential diagnosis of pituitary tumours with emphasis on acromegaly.

    Science.gov (United States)

    Hennessey, J V; Jackson, I M

    1995-04-01

    Pituitary adenomas are frequently encountered, benign intracranial tumours. Clinically classified according to their capacity to produce and secrete hormones, pituitary tumours are diagnosed from the clinical manifestations and biochemical findings of specific pituitary hormone overproduction or of impaired pituitary function due to pressure on normal pituitary cells, the pituitary stalk or the hypothalamus. Additionally, the tumour may result in neurological manifestations due to its effect as an intracranial space-occupying lesion. Pituitary adenomas may present acutely with pituitary apoplexy after intrapituitary haemorrhage or infarction. The subsequent hypofunction of the pituitary with concomitant neurological sequelae of an expanding intracranial mass are often associated with excruciating headache, diplopia and visual field defects. Gradually developing neurological deficits or secondary endocrine failure over several years may precede the recognition of non-secretory tumours (30-40% of pituitary adenomas) as well as some of the hormone-producing adenomas, especially when they expand beyond the confines of the sella turcica. Asymptomatic masses occur in the pituitary in 5-27% of unselected autopsy series. About 10-20% of pituitaries imaged as part of a brain study contain lesions 'consistent with a pituitary adenoma', with about half being pituitary adenomas ('incidentalomas'). Many advocate screening such cases for a wide spectrum of pituitary function abnormalities. Clinical judgement should be utilized to determine the extent of the work-up and the frequency of follow-up. Acromegaly, a clinical syndrome caused by excess growth hormone secretion, accounts for one-sixth of resected pituitary tumours. This disorder leads to chronic progressive disability and a shortened life span, with approximately 50% of untreated acromegalic patients experiencing premature death. The prevalence of acromegaly has been estimated to range from 50 to 70 per million, with the

  20. Clinical features and differential diagnosis of pituitary tumours with emphasis on acromegaly.

    Science.gov (United States)

    Hennessey, J V; Jackson, I M

    1995-04-01

    Pituitary adenomas are frequently encountered, benign intracranial tumours. Clinically classified according to their capacity to produce and secrete hormones, pituitary tumours are diagnosed from the clinical manifestations and biochemical findings of specific pituitary hormone overproduction or of impaired pituitary function due to pressure on normal pituitary cells, the pituitary stalk or the hypothalamus. Additionally, the tumour may result in neurological manifestations due to its effect as an intracranial space-occupying lesion. Pituitary adenomas may present acutely with pituitary apoplexy after intrapituitary haemorrhage or infarction. The subsequent hypofunction of the pituitary with concomitant neurological sequelae of an expanding intracranial mass are often associated with excruciating headache, diplopia and visual field defects. Gradually developing neurological deficits or secondary endocrine failure over several years may precede the recognition of non-secretory tumours (30-40% of pituitary adenomas) as well as some of the hormone-producing adenomas, especially when they expand beyond the confines of the sella turcica. Asymptomatic masses occur in the pituitary in 5-27% of unselected autopsy series. About 10-20% of pituitaries imaged as part of a brain study contain lesions 'consistent with a pituitary adenoma', with about half being pituitary adenomas ('incidentalomas'). Many advocate screening such cases for a wide spectrum of pituitary function abnormalities. Clinical judgement should be utilized to determine the extent of the work-up and the frequency of follow-up. Acromegaly, a clinical syndrome caused by excess growth hormone secretion, accounts for one-sixth of resected pituitary tumours. This disorder leads to chronic progressive disability and a shortened life span, with approximately 50% of untreated acromegalic patients experiencing premature death. The prevalence of acromegaly has been estimated to range from 50 to 70 per million, with the