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Sample records for clinical features diagnosis

  1. [Narcolepsy: etiology, clinical features, diagnosis and treatment].

    PubMed

    Zawilska, Jolanta B; Woldan-Tambor, Agata; Płocka, Anna; Kużajska, Katarzyna; Wojcieszak, Jakub

    2012-01-01

     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. PMID:23175331

  2. Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

    PubMed Central

    Kim, Jong S.

    2016-01-01

    Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology remains unknown, recent genetic studies identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. Possibly because of genetic differences, MMD is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. The prevalence of MMD appears to be slightly lower among Chinese, compared to Koreans or Japanese. There are two peaks of incidence with different clinical presentations, at around 10 years and 30-40 years. The peak appears to occur later in women than men. In children, ischemic symptoms, especially transient ischemic attacks, are predominant. Intellectual decline, seizures, and involuntary movements are also more common in this age group. In contrast, adult patients present with intracranial hemorrhage more often than pediatric patients. In patients with MMD, intracerebral hemorrhage is more often accompanied by intraventricular hemorrhage than in patients with hypertensive intracerebral hemorrhage. These different age peaks and different clinical presentations in each age group are also observed in MMD patients in the USA. Catheter angiography is the diagnostic method of choice. Magnetic resonance (MR) angiography and computed tomographic angiography are noninvasive diagnostic methods. High-resolution vessel wall MR imaging also helps diagnose MMD by revealing concentric vessel wall narrowing with basal collaterals. PMID:26846755

  3. Update on Mastocytosis (Part 1): Pathophysiology, Clinical Features, and Diagnosis.

    PubMed

    Azaña, J M; Torrelo, A; Matito, A

    2016-01-01

    Mastocytosis is a term used to describe a heterogeneous group of disorders characterized by clonal proliferation of mast cells in various organs. The organ most often affected is the skin. Mastocytosis is a relatively rare disorder that affects both sexes equally. It can occur at any age, although it tends to appear in the first decade of life, or later, between the second and fifth decades. Our understanding of the pathophysiology of mastocytosis has improved greatly in recent years, with the discovery that somatic c-kit mutations and aberrant immunophenotypic features have an important role. The clinical manifestations of mastocytosis are diverse, and skin lesions are the key to diagnosis in most patients. PMID:26546030

  4. Spinal Neuroarthropathy: Pathophysiology, Clinical and Imaging Features, and Differential Diagnosis.

    PubMed

    Ledbetter, Luke N; Salzman, Karen L; Sanders, R Kent; Shah, Lubdha M

    2016-01-01

    Spinal neuroarthropathy (SNA), or Charcot spine, is a progressive destructive arthropathy occurring after loss of neuroprotective sensation and proprioceptive reflexes. Clinical diagnosis is difficult because of the variable length to presentation after initial neurologic damage and the limited symptoms given preexisting neurologic deficits. SNA is also a diagnostic challenge because its imaging features are similar to those of spinal conditions such as discitis-osteomyelitis, osseous tuberculosis, hemodialysis-related spondyloarthropathy, and pseudarthrosis. The most important imaging clues for diagnosis of SNA are involvement of both anterior and posterior elements at the thoracolumbar and lumbosacral junctions. Additional imaging clues include vacuum phenomenon within the disk (indicating excessive motion), malalignment, and paraspinal soft-tissue masses or fluid collections containing bone debris. Despite these imaging signs, findings may overlap in some cases with those of infection, or SNA can be superinfected, and biopsy may be necessary. Development of SNA requires a preexisting neurologic condition, most commonly traumatic spinal cord injury. Areas of greatest mobility and weight bearing within the desensate spine experience repetitive microtrauma and unregulated hyperemia, leading to destruction of the intervertebral articulations. The progressive and destructive nature of SNA causes substantial deformity, loss of function, and often further neurologic deficits. Patients present with deformity, back pain, audible noises during movement, or new neurologic symptoms. The mainstay of treatment is surgical débridement, reduction, and fusion. The radiologist can help initiate early intervention by using key imaging features to distinguish SNA from imaging mimics and prevent further neurologic deterioration. (©)RSNA, 2016. PMID:27058729

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

    PubMed

    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

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

    PubMed Central

    Valour, Florent; Sénéchal, Agathe; Dupieux, Céline; Karsenty, Judith; Lustig, Sébastien; Breton, Pierre; Gleizal, Arnaud; Boussel, Loïc; Laurent, Frédéric; Braun, Evelyne; Chidiac, Christian; Ader, Florence; Ferry, Tristan

    2014-01-01

    Actinomycosis is a rare chronic disease caused by Actinomyces spp., anaerobic Gram-positive bacteria that normally colonize the human mouth and digestive and genital tracts. Physicians must be aware of typical clinical presentations (such as cervicofacial actinomycosis following dental focus of infection, pelvic actinomycosis in women with an intrauterine device, and pulmonary actinomycosis in smokers with poor dental hygiene), but also that actinomycosis may mimic the malignancy process in various anatomical sites. Bacterial cultures and pathology are the cornerstone of diagnosis, but particular conditions are required in order to get the correct diagnosis. Prolonged bacterial cultures in anaerobic conditions are necessary to identify the bacterium and typical microscopic findings include necrosis with yellowish sulfur granules and filamentous Gram-positive fungal-like pathogens. Patients with actinomycosis require prolonged (6- to 12-month) high doses (to facilitate the drug penetration in abscess and in infected tissues) of penicillin G or amoxicillin, but the duration of antimicrobial therapy could probably be shortened to 3 months in patients in whom optimal surgical resection of infected tissues has been performed. Preventive measures, such as reduction of alcohol abuse and improvement of dental hygiene, may limit occurrence of pulmonary, cervicofacial, and central nervous system actinomycosis. In women, intrauterine devices must be changed every 5 years in order to limit the occurrence of pelvic actinomycosis. PMID:25045274

  7. Mucocele and fibroma: treatment and clinical features for differential diagnosis.

    PubMed

    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

  8. The clinical features, diagnosis and management of recurrent thymoma.

    PubMed

    Luo, Taobo; Zhao, Hongguang; Zhou, Xinming

    2016-01-01

    Thymoma is a disease with malignant potential, which has a recurrence rate after complete resection ranging from 5 to 50 %. Multiple studies on the risk factors, treatment or prognosis have been reported. Many of them are controversial, however. In this review, we summarized some accepted risk factors, means of diagnosis and different treatments of recurrent thymoma. The risk factors of recurrent thymoma haven't been well-studied, and its management remains controversial. We reviewed the literatures and found some key points which should be noticed during the surgery of initial thymoma. Although reoperation should be taken into account preferentially, multimodal treatments are also available. The prognosis are also been discussed. PMID:27580949

  9. Clinical Approach to Parkinson's Disease: Features, Diagnosis, and Principles of Management

    PubMed Central

    Massano, João; Bhatia, Kailash P.

    2012-01-01

    Parkinson's disease (PD) is one of the most common neurodegenerative disorders. The condition causes a heavy burden both on those affected, as well as their families. Accurate diagnosis is critical and remains founded on clinical grounds as no specific diagnostic test is available so far. The clinical picture of PD is typical in many instances; however, features distinguishing it from other disorders should be thoroughly sought. Monogenic forms of PD also have some distinctive characteristics in many cases. This text is a roadmap to accurate diagnosis in PD, as it approaches clinical features, diagnostic methodology, and leading differential diagnoses. Therapeutic issues are also briefly discussed. PMID:22675666

  10. Alternaria infections: laboratory diagnosis and relevant clinical features.

    PubMed

    Pastor, F J; Guarro, J

    2008-08-01

    The genus Alternaria contains several species of melanized hyphomycetes that cause opportunistic human infections. The published literature contains 210 reported cases of human alternarioses between 1933 and the present day. The most frequent clinical manifestations are cutaneous and subcutaneous infections (74.3%), followed by oculomycosis (9.5%), invasive and non-invasive rhinosinusitis (8.1%) and onychomycosis (8.1%). Immunosuppression is frequently associated with cutaneous and subcutaneous infections and rhinosinusitis. The most important risk factors for cutaneous and subcutaneous infections are solid organ transplantation and Cushing's syndrome, and those for rhinosinusitis are bone marrow transplants. Having been exposed to soil and garbage is common in all cases of oculomycosis, with corticotherapy being a risk factor in 50% of these cases. Previous contact with soil and/or trauma to the nails is associated with most cases of onychomycosis. In general, alternariosis shows a good response to conventional antifungal drugs. On some occasions, steroid suppression or reduction is sufficient to resolve an infection. Itraconazole is the antifungal drug used most frequently to successfully treat onychomycosis and cutaneous and subcutaneous infections. Posaconazole and voriconazole are promising therapeutic options, with the latter being especially so for oculomycosis. PMID:18727797

  11. Cognitive Impairment and Dementia in Parkinson’s Disease: Clinical Features, Diagnosis, and Management

    PubMed Central

    Meireles, Joana; Massano, João

    2012-01-01

    Parkinson’s disease (PD) is a common, disabling, neurodegenerative disorder. In addition to classical motor symptoms, non-motor features are now widely accepted as part of the clinical picture, and cognitive decline is a very important aspect of the disease, as it brings an additional significant burden for the patient and caregivers. The diagnosis of cognitive decline in PD, namely mild cognitive impairment (MCI) and dementia, can be extremely challenging, remaining largely based on clinical and cognitive assessments. Diagnostic criteria and methods for PD dementia and MCI have been recently issued by expert work groups. This manuscript has synthesized relevant data in order to obtain a pragmatic and updated review regarding cognitive decline in PD, from milder stages to dementia. This text will summarize clinical features, diagnostic methodology, and therapeutic issues of clinical decline in PD. Relevant clinical genetic issues, including recent advances, will also be approached. PMID:22654785

  12. Basal Cell Carcinoma: Pathogenesis, Epidemiology, Clinical Features, Diagnosis, Histopathology, and Management

    PubMed Central

    Marzuka, Alexander G.; Book, Samuel E.

    2015-01-01

    Basal cell carcinoma (BCC) is the most common malignancy. Exposure to sunlight is the most important risk factor. Most, if not all, cases of BCC demonstrate overactive Hedgehog signaling. A variety of treatment modalities exist and are selected based on recurrence risk, importance of tissue preservation, patient preference, and extent of disease. The pathogenesis, epidemiology, clinical features, diagnosis, histopathology, and management of BCC will be discussed in this review. PMID:26029015

  13. "Orbiting around" the orbital myositis: clinical features, differential diagnosis and therapy.

    PubMed

    Montagnese, F; Wenninger, S; Schoser, B

    2016-04-01

    Orbital myositis (OM) is a rare disease whose clinical heterogeneity and different treatment options represent a diagnostic and therapeutic challenge. We aim to review the state of knowledge on OM, also describing a cohort of patients diagnosed in our centre, to highlight some remarkable clinical features. A literature review was conducted in PubMed and Medline databases. The herein described cohort is composed of seven OM patients, diagnosed according to clinical, laboratory and neuroradiological features, whose clinical data were retrospectively analysed. OM is a non-infectious, inflammatory process primarily involving extraocular eye-muscles. It typically presents as an acute to sub-acute, painful ophthalmoplegia with signs of ocular inflammation, but atypical cases without pain or with a chronic progression have been described. The wide range of OM mimicking diseases make a prompt diagnosis challenging but orbit MRI provides valuable clues for differential diagnosis. Timely treatment is greatly important as OM promptly responds to steroids; nevertheless, partial recovery or relapses often occur. In refractory, recurrent or steroid-intolerant cases other therapeutic options (radiotherapy, immunosuppressants, immunoglobulins) can be adopted, but the most effective therapeutic management is yet to be established. In this review, we provide a detailed clinical description of OM, considering the main differential diagnoses and suggesting the most useful investigations. In light of the currently available data on therapy efficacy, we propose a therapeutic algorithm that may guide neurologists in OM patients' management. PMID:26477021

  14. Trichophyton tonsurans infection in Japan: epidemiology, clinical features, diagnosis and infection control.

    PubMed

    Hiruma, Junichiro; Ogawa, Yumi; Hiruma, Masataro

    2015-03-01

    In this review, we summarize the status of Trichophyton tonsurans infection in Japan in terms of epidemiology, clinical features, diagnosis and infection control. Since approximately 2000, outbreaks of T. tonsurans infections among combat sports club members have been reported frequently, with the infection then spreading to their friends and family members. The most common clinical features of T. tonsurans infection are tinea corporis, which is difficult to differentiate from eczema, and tinea capitis. Tinea capitis is classified as the seborrheic form, kerion celsi form or "black dot" form, although 90% or more of patients are asymptomatic carriers. The diagnosis of symptomatic T. tonsurans infection is established by potassium hydroxide examination and fungal culture. However, because there are many asymptomatic carriers of T. tonsurans infection, tests using the hairbrush culture method are necessary. An increase in asymptomatic carriers of T. tonsurans makes assessment of the current prevalence of the infection challenging and underscores the importance of educational efforts and public awareness campaigns to prevent T. tonsurans epidemics. PMID:25736317

  15. Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

    PubMed Central

    Magoulas, Pilar L.; Adi, Saleh; Kavamura, Maria Ines; Neri, Giovanni; Noonan, Jacqueline; Pierpont, Elizabeth I.; Reinker, Kent; Roberts, Amy E.; Shankar, Suma; Sullivan, Joseph; Wolford, Melinda; Conger, Brenda; Santa Cruz, Molly; Rauen, Katherine A.

    2014-01-01

    Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care. PMID:25180280

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

    PubMed Central

    Allison, Randall Z; Kaminskas, David A; Zagorski, Natalia M; Liow, Kore K

    2016-01-01

    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). PMID:27437164

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

    PubMed

    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). PMID:27437164

  18. Murray Valley encephalitis: a review of clinical features, diagnosis and treatment.

    PubMed

    Knox, James; Cowan, Raquel U; Doyle, Joseph S; Ligtermoet, Matthew K; Archer, John S; Burrow, James N C; Tong, Steven Y C; Currie, Bart J; Mackenzie, John S; Smith, David W; Catton, Mike; Moran, Rodney J; Aboltins, Craig A; Richards, Jack S

    2012-03-19

    Murray Valley encephalitis virus (MVEV) is a mosquito-borne virus that is found across Australia, Papua New Guinea and Irian Jaya. MVEV is endemic to northern Australia and causes occasional outbreaks across south-eastern Australia. 2011 saw a dramatic increase in MVEV activity in endemic regions and the re-emergence of MVEV in south-eastern Australia. This followed significant regional flooding and increased numbers of the main mosquito vector, Culex annulirostris, and was evident from the widespread seroconversion of sentinel chickens, fatalities among horses and several cases in humans, resulting in at least three deaths. The last major outbreak in Australia was in 1974, during which 58 cases were identified and the mortality rate was about 20%. With the potential for a further outbreak of MVEV in the 2011-2012 summer and following autumn, we highlight the importance of this disease, its clinical characteristics and radiological and laboratory features. We present a suspected but unproven case of MVEV infection to illustrate some of the challenges in clinical management. It remains difficult to establish an early diagnosis of MVEV infection, and there is a lack of proven therapeutic options. PMID:22432670

  19. HIV-associated tuberculosis in developing countries: clinical features, diagnosis, and treatment.

    PubMed Central

    Raviglione, M. C.; Narain, J. P.; Kochi, A.

    1992-01-01

    This article reviews the clinical aspects and diagnosis of HIV-associated tuberculosis in developing countries, and summarizes WHO's recommendations for treatment. According to WHO estimates (early 1992) over 4 million persons worldwide have been infected with HIV and tuberculosis; 95% of them are in the developing countries. Clinical features of HIV-associated pulmonary tuberculosis in adults are frequently atypical, particularly in the late stage of HIV infection, with non-cavitary disease, lower lobe infiltrates, hilar lymphadenopathy and pleural effusion. More typical post-primary tuberculosis with upper lobe infiltrates and cavitations is seen in the earlier stages of HIV infection. Extrapulmonary tuberculosis is reported more frequently, despite the difficulties in diagnosing it. WHO's recent guidelines recommend 6-month short-course chemotherapy with isoniazid, rifampicin, pyrazinamide and ethambutol for patients with HIV-associated tuberculosis. The older 12-month regimen without rifampicin is much less effective. Streptomycin should not be used, because of the risk of transmitting blood-borne pathogens through contaminated needles. Thioacetazone should be abandoned, because of severe adverse reactions observed among HIV-infected patients. The roles of preventive chemotherapy and BCG vaccination for prevention of tuberculosis are also briefly discussed. PMID:1394786

  20. Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

    PubMed Central

    Zhang, Stella; Malik Sharif, Saghira; Chen, Ya-Chun; Valente, Enza-Maria; Ahmed, Mushtaq; Sheridan, Eamonn; Bennett, Christopher; Woods, Geoffrey

    2016-01-01

    Background Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 has recently been identified as a new gene that can cause CIP. The full phenotype and natural history have not yet been reported. Methods We have ascertained five adult patients and report their clinical features. Results Based on our findings, and those of previous patients, we describe the natural history of the PRDM12-CIP disorder, and derive diagnostic and management features to guide the clinical management of patients. Conclusions PRDM12-CIP is a distinct and diagnosable disorder, and requires specific clinical management to minimise predictable complications. PMID:26975306

  1. Sarcoidosis in children. Epidemiology in Danes, clinical features, diagnosis, treatment and prognosis.

    PubMed

    Milman, N; Hoffmann, A L; Byg, K E

    1998-08-01

    This paper reviews current knowledge of childhood sarcoidosis with regard to the epidemiology in Danes, clinical presentation, diagnostic procedures, treatment and prognosis. Sarcoidosis is a granulomatous disease of unknown aetiology, with multiorgan involvement. The diagnosis is confirmed by the demonstration of epitheloid cell granulomas in tissue biopsy specimens. During the period 1980-92, three cases of childhood sarcoidosis were recorded in Copenhagen County, which has a total population of 610,000. The approximate incidence of clinically recognized sarcoidosis in Danish children younger than 15 y of age was 0.22-0.27/100,000 children per year, corresponding to approximately three new cases in Denmark each year. The true incidence is unknown, since the disease is often asymptomatic and resolves without a clinical diagnosis being made. In children younger than 5 y of age, the disease is characterized by involvement of skin, eyes and joints, whereas in older children involvement of lungs, lymph nodes and eyes predominate. The mainstay of treatment consists of oral corticosteroids. The risk/benefit ratio of using long-term corticosteroids needs to be evaluated in each individual patient. Some patients may benefit from additional therapy with methotrexate. The long-term prognosis is not well established, but it seems to be poorer in children younger than 5 y. Older children appear to have as favourable a prognosis as young adults. PMID:9736236

  2. The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family

    PubMed Central

    KARIMZADEH, Parvaneh; JAFARI, Narjes; NEJAD BIGLARI, Habibe; JABBEHDARI, Sayena; ALIZADEH, Mehdi; ALIZADEH, Ghazal; NEJAD BIGLARI, Hamid; SANII, Sara

    2016-01-01

    Objective Adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath breakdown in the brain. In this study, we present 4 yr experience on this disorder. Materials & Methods The patients diagnosed as adrenoleukodystrophy in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran from 2010 to 2014 were enrolled into the study. The disorder was confirmed by neuroimaging and clinical findings along with genetic and neurometabolic assessment at Reference Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of populous family with adrenoleukodystrophy. Results All of the patients were one populous family with high rate of consanguineous marriages. This disorder was confirmed by genetic assessment, VLCFA and brain MRI. c.253_254insC, p.R85Pfs112* was found in heterozygote state and the VLCFA assessment showed the typical pattern for adrenoleukodystrophy/ adrenomyeloneuropathy. This diagnosis was in agreement with the family history and the clinical history of the patient. Since there have been a number of cases in patient’s family in the past, so intensive follow-up on the family especially detection the female members of the family of childbearing age was recommended. The amount of C-26, C24/C22 and C26/C22 was elevated. All patients with the same genotype had wide ranges of clinical presentation. Conclusion Early diagnose of this disease might help us for early intervention and prenatal diagnosis for the disease in next siblings. PMID:27057190

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

    PubMed

    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

  4. Solitary rectal ulcer syndrome: Clinical features, pathophysiology, diagnosis and treatment strategies

    PubMed Central

    Zhu, Qing-Chao; Shen, Rong-Rong; Qin, Huan-Long; Wang, Yu

    2014-01-01

    Solitary rectal ulcer syndrome (SRUS) is an uncommon benign disease, characterized by a combination of symptoms, clinical findings and histological abnormalities. Ulcers are only found in 40% of the patients; 20% of the patients have a solitary ulcer, and the rest of the lesions vary in shape and size, from hyperemic mucosa to broad-based polypoid. Men and women are affected equally, with a small predominance in women. SRUS has also been described in children and in the geriatric population. Clinical features include rectal bleeding, copious mucus discharge, prolonged excessive straining, perineal and abdominal pain, feeling of incomplete defecation, constipation, and rarely, rectal prolapse. This disease has well-described histopathological features such as obliteration of the lamina propria by fibrosis and smooth muscle fibers extending from a thickened muscularis mucosa to the lumen. Diffuse collage deposition in the lamina propria and abnormal smooth muscle fiber extensions are sensitive markers for differentiating SRUS from other conditions. However, the etiology remains obscure, and the condition is frequently associated with pelvic floor disorders. SRUS is difficult to treat, and various treatment strategies have been advocated, ranging from conservative management to a variety of surgical procedures. The aim of the present review is to summarize the clinical features, pathophysiology, diagnostic methods and treatment strategies associated with SRUS. PMID:24574747

  5. The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients

    PubMed Central

    JABBEHDARI, Sayena; RAHIMIAN, Elham; JAFARI, Narjes; SANII, Sara; KHAYATZADEHKAKHKI, Simin; NEJAD BIGLARI, Habibe

    2015-01-01

    Objective Metachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolic diseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency. Materials & Methods Eighteen patients diagnosed as metachromatic leukodystrophy in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran between 2010 and 2014 were included in our study. The disorder was confirmed by clinical, EMG-NCV, arylsulfatase A enzyme checking and neuroimaging findings along with neurometabolic and genetic assessment from reference laboratory in Iran. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 18 patients with metachromatic leukodystrophy. Results From 18 patients, 80% were offspring from consanguineous marriages. A family history of metachromatic leukodystrophy disease was positive for four patients. Twelve patients had late infantile form of this disorder and six patients had juvenile form. A history of tonic type seizure was positive in 20% of the patients and tonic spasm was confirmed with clinical information. Electromyographgraphy (EMG) in 96% of patients was abnormal with demyelinating sensorimotor neuropathy pattern. MRI in all patients showed the leukodystrophic pattern as arcuate fibers sparing and subcortical rim in white matter and periventricular involvement. Our diagnosis was confirmed by EMG-NCV findings with sensorimotor neuropathy pattern and the assessment of arylsulfatase A enzyme function. Conclusion MLD is an inheritance metabolic disorder, which was confirmed by the assessment of arylsulfatase A enzyme function, peripheral blood leukocyte that assessed in a referral laboratory in Iran. PMID:26401154

  6. Clinical features of actinomycosis

    PubMed Central

    Bonnefond, Simon; Catroux, Mélanie; Melenotte, Cléa; Karkowski, Ludovic; Rolland, Ludivine; Trouillier, Sébastien; Raffray, Loic

    2016-01-01

    Abstract Actinomycosis is a rare heterogeneous anaerobic infection with misleading clinical presentations that delay diagnosis. A significant number of misdiagnosed cases have been reported in specific localizations, but studies including various forms of actinomycosis have rarely been published. We performed a multicenter retrospective chart review of laboratory-confirmed actinomycosis cases from January 2000 until January 2014. We described clinical characteristics, diagnostic procedures, differential diagnosis, and management of actinomycosis of clinical significance. Twenty-eight patients were included from 6 hospitals in France. Disease was diagnosed predominately in the abdomen/pelvis (n = 9), orocervicofacial (n = 5), cardiothoracic (n = 5), skeletal (n = 3), hematogenous (n = 3), soft tissue (n = 2), and intracranially (n = 1). Four patients (14%) were immunocompromised. In most cases (92 %), the diagnosis of actinomycosis was not suspected on admission, as clinical features were not specific. Diagnosis was obtained from either microbiology (50%, n = 14) or histopathology (42%, n = 12), or from both methods (7%, n = 2). Surgical biopsy was needed for definite diagnosis in 71% of cases (n = 20). Coinfection was found in 13 patients (46%), among which 3 patients were diagnosed from histologic criteria only. Two-thirds of patients were treated with amoxicillin. Median duration of antibiotics was 120 days (interquartile range 60–180), whereas the median follow-up time was 12 months (interquartile range 5.25–18). Two patients died. This study highlights the distinct and miscellaneous patterns of actinomycosis to prompt accurate diagnosis and earlier treatments, thus improving the outcome. Surgical biopsy should be performed when possible while raising histologist's and microbiologist's awareness of possible actinomycosis to enhance the chance of diagnosis and use specific molecular methods. PMID:27311002

  7. Clinical Features, Diagnosis, and Treatment Strategies of Gastrointestinal Diaphragm Disease Associated with Nonsteroidal Anti-Inflammatory Drugs

    PubMed Central

    Wang, Yan-Zhi; Sun, Gang; Cai, Feng-Chun; Yang, Yun-Sheng

    2016-01-01

    Background. To demonstrate the clinical features, diagnosis, and treatment of nonsteroidal anti-inflammatory drug- (NSAID-) induced diaphragm disease (DD). Methods. A literature search between January 1973 and August 2015 was undertaken. The clinical data of patients with NSAID-induced DD were recorded and analyzed. Results. 159 patients were included. The ratio of male to female was 1 : 2.3; the mean age was 65 ± 11 years. The most common clinical manifestations were gastrointestinal bleeding and obstruction. 121 (84%) patients took traditional NSAIDs. The durations of NSAIDs use ranged from 2 to 300 months. A majority (59.7%) of DD were seen in the small bowel, were seen secondly in the colon (30.2%), and were mainly located in the ileum (57.9%) and right colon (91.7%), respectively. 80% of patients had multiple diaphragms. 41.5% of small bowel DD were diagnosed preoperatively by capsule endoscopy and/or double-balloon enteroscopy, 52.1% at laparotomy. Nearly 75% of patients underwent surgery, endoscopic balloon dilation was performed in 22 patients, and NSAIDs were withdrawn in 53 patients. Conclusions. NSAID-induced DD is relatively rare. The small bowel is most commonly involved. Preoperative diagnosis of small bowel DD is relatively difficult. Discontinuation of the NSAIDs is recommended, surgical resection is the main treatment presently, and endoscopic balloon dilation should be considered as an alternative therapy. PMID:27118967

  8. Spindle epithelial tumor with thymus-like differentiation (SETTLE): clinical-pathological features, differential pathological diagnosis and therapy.

    PubMed

    Ippolito, Serena; Bellevicine, Claudio; Arpaia, Debora; Peirce, Carmela; Ciancia, Giuseppe; Vigliar, Elena; Troncone, Giancarlo; Biondi, Bernadette

    2016-03-01

    Spindle epithelial tumor with thymus-like differentiation (SETTLE) is a very rare tumor of the thyroid gland. An algorithm for the diagnosis and treatment of SETTLE has yet to be established. The aim of this study was to identify all case reports of SETTLE and to compare the clinical-pathological features and therapy of the cases identified. We performed a PubMed search for case reports of SETTLE in English published up to November 2014 in which "SETTLE" and "Spindle epithelial tumor with thymus-like differentiation" were keywords. We identified 35 articles for a total of 42 cases. We found that SETTLE usually occurs in children and adolescents as an asymptomatic neck mass. Thyroid function tests and tumor markers are invariably within normal range in all patients, and fine needle aspiration biopsy is rarely diagnostic for SETTLE. All 42 patients had undergone thyroidectomy. After surgical resection, chemotherapy (adjuvant or first/second-line treatment) and/or radiotherapy were administered to control tumor growth in cases with metastatic involvement. Although SETTLE presents a low-grade malignancy, it can metastasize to lymph nodes, the mediastinum, lung, vertebrae, and kidney even many years after the initial diagnosis. SETTLE may have a good prognosis if appropriately treated at initial presentation and if patients undergo long-term monitoring with regular clinical and morphological evaluations. PMID:26289127

  9. A clinically challenging diagnosis of adenoma of the retinal pigment epithelium presenting with clinical features of choroidal hemangioma

    PubMed Central

    Nakamura, Sohei; Hikita, Naofumi; Yamakawa, Ryoji; Moriya, Fukuko; Yano, Hirohisa; Furusato, Emiko; Cameron, J Douglas; Rushing, Elisabeth J

    2012-01-01

    Background Adenoma of the retinal pigment epithelium (RPE) is a rare intraocular tumor that can simulate other pigmented tumors such as choroidal melanoma. We report a case of non-pigmented adenoma of the RPE initially diagnosed as choroidal hemangioma. Case report A 42-year-old woman presented to Kurume University Hospital in November 1992 with an orange-yellow tumor nasal to the optic disc in the left fundus. The tumor was 9.0 × 9.0 mm in diameter, 6.0 mm thick, and was characterized by high intensity on T1-weighted magnetic resonance imaging (MRI), low intensity on T2-weighted MRI, and enhancement on gadolinium MRI. Fluorescein angiography revealed early hypofluorescence and late hyperfluorescence of the tumor and retinal feeder vessels. By April 1996, exudate had developed around the tumor margins. The patient was treated with external beam radiation therapy (20 Gy) in July 1996, but the tumor did not diminish in size. Subsequently, she developed extensive loss of vision due to total retinal detachment. Accordingly, her left eye was enucleated in June 2005 because of severe ocular pain due to absolute glaucoma. Histopathological examination indicated that the tumor was contiguous with the normal surrounding RPE and was composed of cords and tubules of mostly non-pigmented spindle-shaped cells with round to oval nuclei and a small amount of cytoplasm containing melanin granules. The tumor cells were immunoreactive for vimentin, S-100 protein, and cytokeratin 18. The final diagnosis was adenoma of the RPE. Conclusion Adenoma of the retinal pigment epithelium may be associated with incompetent vessels leading to serous retinal detachment and extensive visual loss, and may exhibit clinical characteristics similar to choroidal hemangioma. PMID:22536043

  10. Gastrointestinal Diagnosis of Classical Whipple Disease: Clinical, Endoscopic, and Histopathologic Features in 191 Patients

    PubMed Central

    Günther, Ute; Moos, Verena; Offenmüller, Gabriel; Oelkers, Gerrit; Heise, Walther; Moter, Annette; Loddenkemper, Christoph; Schneider, Thomas

    2015-01-01

    Abstract Classic Whipple disease (CWD) is a systemic infection caused by Tropheryma whipplei. Different diagnostic tools have been developed over the last decades: periodic acid-Schiff (PAS) staining, T whipplei-specific polymerase chain reaction (PCR), and T whipplei-specific immunohistochemistry (IHC). Despite all these advances, CWD is still difficult to diagnose because of a variety of clinical symptoms and possibly a long time span between first unspecific symptoms and the full-blown clinical picture of the disease. Herein, we report an observational cohort study summarizing epidemiologic data, clinical manifestations, and diagnostic parameters of 191 patients with CWD collected at our institution. Gastrointestinal manifestations are the most characteristic symptoms of CWD affecting 76% of the cohort. Although the small bowel was macroscopically conspicuous in only 27% of cases, 173 (91%) patients presented with characteristic histological changes in small bowel biopsies (in 2 patients, these changes were only seen within the ileum). However, 18 patients displayed normal small bowel histology without typical PAS staining. In 9 of these patients, alternative test were positive from their duodenal specimens (ie, T whipplei-specific PCR and/or IHC). Thus, in 182 patients (95%) a diagnostic hint toward CWD was obtained from small bowel biopsies. Only 9 patients (5%) were diagnosed solely based on positive T whipplei-specific PCR and/or IHC of extraintestinal fluids (eg, cerebrospinal fluid, synovial fluid) or extraintestinal tissue (eg, lymph node, synovial tissue), respectively. Thus, despite efforts to diagnose CWD from alternative specimens, gastroscopy with duodenal biopsy and subsequent histological and molecular–biological examination is the most reliable diagnostic tool for CWD. PMID:25881849

  11. Apathy in Parkinson's disease: clinical features, neural substrates, diagnosis, and treatment.

    PubMed

    Pagonabarraga, Javier; Kulisevsky, Jaime; Strafella, Antonio P; Krack, Paul

    2015-05-01

    Normal maintenance of human motivation depends on the integrity of subcortical structures that link the prefrontal cortex with the limbic system. Structural and functional disruption of different networks within these circuits alters the maintenance of spontaneous mental activity and the capacity of affected individuals to associate emotions with complex stimuli. The clinical manifestations of these changes include a continuum of abnormalities in goal-oriented behaviours known as apathy. Apathy is highly prevalent in Parkinson's disease (and across many neurodegenerative disorders) and can severely affect the quality of life of both patients and caregivers. Differentiation of apathy from depression, and discrimination of its cognitive, emotional, and auto-activation components could guide an individualised approach to the treatment of symptoms. The opportunity to manipulate dopaminergic treatment in Parkinson's disease allows researchers to study a continuous range of motivational states, from apathy to impulse control disorders. Parkinson's disease can thus be viewed as a model that provides insight into the neural substrates of apathy. PMID:25895932

  12. Early Diagnosis of Pneumonia in Severe Stroke: Clinical Features and the Diagnostic Role of C-Reactive Protein

    PubMed Central

    Warusevitane, Anushka; Karunatilake, Dumin; Sim, Julius; Smith, Craig; Roffe, Christine

    2016-01-01

    Background Accurate diagnosis of pneumonia complicating severe stroke is challenging due to difficulties in physical examination, altered immune responses and delayed manifestations of radiological changes. The aims of this study were to describe early clinical features and to examine C-reactive protein (CRP) as a diagnostic marker of post-stroke pneumonia. Methods Patients who required nasogastric feeding and had no evidence of pneumonia within 7 days of stroke onset were included in the study and followed-up for 21 days with a daily clinical examination. Pneumonia was diagnosed using modified British Thoracic Society criteria. Results 60 patients were recruited (mean age 77 years, mean National Institutes of Health Stroke Scale Score 19.47). Forty-four episodes of pneumonia were identified. Common manifestations on the day of the diagnosis were new onset crackles (43/44, 98%), tachypnoea>25/min (42/44, 95%), and oxygen saturation <90% (41/44, 93%). Cough, purulent sputum, and pyrexia >38°C were observed in 27 (61%), 25 (57%) and 15 (34%) episodes respectively. Leucocytosis (WBC>11,000/ml) and raised CRP (>10 mg/l) were observed in 38 (86%) and 43 (97%) cases of pneumonia respectively. The area under the ROC curve for CRP was 0.827 (95% CI 0.720, 0.933). The diagnostic cut-off for CRP with an acceptable sensitivity (>0.8) was 25.60 mg/L (Youden index (J) 0.515; sensitivity 0.848; specificity 0.667). A cut-off of 64.65 mg/L had the highest diagnostic accuracy (J 0.562; sensitivity 0.636; specificity 0.926). Conclusion Patients with severe stroke frequently do not manifest key diagnostic features of pneumonia such as pyrexia, cough and purulent sputum early in their illness. The most common signs in this group are new-onset crackles, tachypnoea and hypoxia. Our results suggest that a CRP >25 mg/L should prompt investigations for pneumonia while values >65 mg/L have the highest diagnostic accuracy to justify consideration of this threshold as a diagnostic marker of

  13. Clinical Features and Laboratory Diagnosis of Infection with the Potential Bioterrorism Agents Burkholderia Mallei and Burkholderia Pseudomallei

    PubMed Central

    Gilad, Jacob; Schwartz, David; Amsalem, Yoram

    2007-01-01

    Burkholderia mallei and Burkholderia pseudomallei are the causative organisms of Glanders and Melioidosis, respectively. Although now rare in Western countries, both organisms have recently gained much interest because of their unique potential as bioterrorism agents. These organisms are less familiar to medical and laboratory personnel than other select bioterrorism bacterial agents and thus heightened awareness of Glanders and Melioidosis is crucial in order to enable adequate emergency preparedness and response to deliberate release of B. mallei and B. pseudomallei. The microbiological diagnosis of both species in the clinical laboratory is complicated. This paper reviews the various challenges and pitfalls associated with the diagnosis of Melioidosis and Glanders in the clinical setting, with emphasis on the role of sentinel laboratories. PMID:23675037

  14. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

    PubMed

    Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke Eh; Braz, Paula; Draper, Elizabeth S; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Verellen-Dumoulin, Christine

    2015-06-01

    Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100,000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3 ± 2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies. PMID:25182137

  15. Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

    PubMed Central

    Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke EH; Braz, Paula; Draper, Elizabeth S; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Verellen-Dumoulin, Christine

    2015-01-01

    Meckel–Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3±2.6 (range 11–36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies. PMID:25182137

  16. Feature Hepatitis: Hepatitis Symptoms, Diagnosis, Treatment & Prevention

    MedlinePlus

    ... Current Issue Past Issues Feature Hepatitis Hepatitis: Symptoms, Diagnosis, Treatment & Prevention Past Issues / Spring 2009 Table of ... Stomach ache Nausea Diarrhea No appetite Fever Headaches Diagnosis To check for hepatitis viruses, your doctor will ...

  17. Diagnosis and clinical features of organic acidemias: A hospital-based study in a single center in Damascus, Syria

    PubMed Central

    Shennar, Hala Khalil; Al-Asmar, Diana; Kaddoura, Ahmad; Al-Fahoum, Sahar

    2015-01-01

    Background: Organic acidemias (OA) are a group of heterogeneous metabolic inherited disorders characterized by the accumulation of organic acids in body fluids and tissues. These are rare disorders and infrequently reported worldwide. In Syria, there is a lack of information regarding these disorders. Objective: Our hospital-based study aimed to describe the pattern of clinical and demographic presenting features of organic acidemias among Syrian children and to shed light on the diagnostic experience of organic acidemias in the Children's Hospital of Damascus through a five year period. Material and methods: We conducted a retrospective cohort study by reviewing the medical records of OA patients in the Children's Hospital of Damascus between 2008 and 2012. All cases were investigated by metabolic work up, including the acylcarnitine profile performed by tandem mass spectrometry (MS/MS) and quantitative urine organic acid analysis performed by gas chromatography mass spectrometry (GC-MS). Results: A total of 70 OA confirmed cases were included in the study. There were 46 males and 31 females. Twenty-seven cases were diagnosed after the first year of life. Methylmalonic acidemia was the most frequent disorder (57.1%). There were relatively high rates of family history of unexplained death and OA confirmed cases (50%), consanguinity (74.2%) and mortality (21.4%). The most frequent symptoms were apnea or respiratory distress (65.7%) and vomiting (40%). Conclusion: The lack of specific confirmatory diagnostic tests being performed and the high mortality and consanguinity rates among OA patients suggests high incidence of OA in Syria. Further studies are needed to determine the actual incidence of OA and the cost-effectiveness of applying a governmental mandatory newborn screening program. PMID:26535177

  18. A new clinical feature associated with familial early-onset of dystonic-guttural tics: An unusual diagnosis of PANDAS

    PubMed Central

    Vitaliti, Giovanna; Trifiletti, Rosario R.; Falsaperla, Raffaele; Parano, Enrico; Spalice, Alberto; Pavone, Piero

    2014-01-01

    Until today there is a large debate about the existence of PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) or PANS (pediatric acute onset neuropsychiatric syndrome). These children usually have dramatic, “overnight” onset of symptoms, including motor or vocal tics, obsessions, and/or compulsions. In addition to these symptoms, children may also have comorbid features of associated disorders. Herein, we report a family with an early onset of tics, with exclusively dystonic and guttural tics. All patients had a particularly strong excitement trigger. Two of the patients were shown to have signs suggestive of PANDAS and all family members were Group A beta-hemolytic Streptococcus (GABHS) carriers. The PANDAS spectrum is probably a group of disorders. We have described a PANDAS variant, in which the family seems to share common autoimmune pattern and may be viewed in the large spectrum of PANDAS. PMID:24891915

  19. A new clinical feature associated with familial early-onset of dystonic-guttural tics: An unusual diagnosis of PANDAS.

    PubMed

    Vitaliti, Giovanna; Trifiletti, Rosario R; Falsaperla, Raffaele; Parano, Enrico; Spalice, Alberto; Pavone, Piero

    2014-01-01

    Until today there is a large debate about the existence of PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) or PANS (pediatric acute onset neuropsychiatric syndrome). These children usually have dramatic, "overnight" onset of symptoms, including motor or vocal tics, obsessions, and/or compulsions. In addition to these symptoms, children may also have comorbid features of associated disorders. Herein, we report a family with an early onset of tics, with exclusively dystonic and guttural tics. All patients had a particularly strong excitement trigger. Two of the patients were shown to have signs suggestive of PANDAS and all family members were Group A beta-hemolytic Streptococcus (GABHS) carriers. The PANDAS spectrum is probably a group of disorders. We have described a PANDAS variant, in which the family seems to share common autoimmune pattern and may be viewed in the large spectrum of PANDAS. PMID:24891915

  20. ECG feature extraction and disease diagnosis.

    PubMed

    Bhyri, Channappa; Hamde, S T; Waghmare, L M

    2011-01-01

    An important factor to consider when using findings on electrocardiograms for clinical decision making is that the waveforms are influenced by normal physiological and technical factors as well as by pathophysiological factors. In this paper, we propose a method for the feature extraction and heart disease diagnosis using wavelet transform (WT) technique and LabVIEW (Laboratory Virtual Instrument Engineering workbench). LabVIEW signal processing tools are used to denoise the signal before applying the developed algorithm for feature extraction. First, we have developed an algorithm for R-peak detection using Haar wavelet. After 4th level decomposition of the ECG signal, the detailed coefficient is squared and the standard deviation of the squared detailed coefficient is used as the threshold for detection of R-peaks. Second, we have used daubechies (db6) wavelet for the low resolution signals. After cross checking the R-peak location in 4th level, low resolution signal of daubechies wavelet P waves and T waves are detected. Other features of diagnostic importance, mainly heart rate, R-wave width, Q-wave width, T-wave amplitude and duration, ST segment and frontal plane axis are also extracted and scoring pattern is applied for the purpose of heart disease diagnosis. In this study, detection of tachycardia, bradycardia, left ventricular hypertrophy, right ventricular hypertrophy and myocardial infarction have been considered. In this work, CSE ECG data base which contains 5000 samples recorded at a sampling frequency of 500 Hz and the ECG data base created by the S.G.G.S. Institute of Engineering and Technology, Nanded (Maharashtra) have been used. PMID:21770825

  1. Clinical and radiographic maxillofacial features of pycnodysostosis.

    PubMed

    Alves, Nilton; Cantín, Mario

    2014-01-01

    The aim of this study was to review of the literature to determine the radiographic and clinical maxillofacial features of pycnodysostosis emphasizing the main aspects of interest to the dentist in order to make them fit for the proper treatment of this population. It is important to make the diagnosis as early as possible in order to plan the treatment more suitable to provide a better life's quality to the patients. The most frequent clinical maxillofacial features were: grooved palate, midfacial hypoplasia, mandibular hypoplasia and enamel hypoplasia. The most common radiographic maxillofacial features were: obtuse mandibular angle, frontal/parietal/occiptal bossing, open fontanels and sutures, multiple impacted teeth. The earlier diagnostic of pycnodysostosis has a fundamental role in general health of the patients. We consider that is very important that the dentist know recognize the radiographic and clinical maxillofacial features of pycnodysostosis, which allows correct treatment planning avoiding risks and ensuring better life's quality to the patients. PMID:24753741

  2. Noonan syndrome: introduction and basic clinical features.

    PubMed

    Rohrer, T

    2009-12-01

    Noonan syndrome (NS) is a fairly common (1 per 1,000-2,500 live births) autosomal dominantly inherited disorder and the most common syndromal cause of congenital heart disease after Down's syndrome. The clinical features vary with age, but typical signs of NS include characteristic facial features with hypertelorism, down-slanting palpebral fissures, low-set posteriorly rotated ears, chest and spinal deformities, short stature, specific heart defects, learning disabilities and mild mental retardation. This article gives a brief introduction to NS and its basic clinical features using the established and generally accepted NS scoring system based on family history and facial, cardiac, growth, chest wall and other criteria. Aspects discussed include the definition, epidemiology, etiology, diagnosis and genetics of NS, as well as growth, skeletal and gonadal anomalies, pubertal development, ophthalmic and cutaneous abnormalities and the incidence of cancer in patients with NS. PMID:20029230

  3. Melanoma: Clinical Features and Genomic Insights

    PubMed Central

    Hawryluk, Elena B.; Tsao, Hensin

    2014-01-01

    Recent efforts in genomic research have enabled the characterization of molecular mechanisms underlying many types of cancers, ushering novel approaches for diagnosis and therapeutics. Melanoma is a molecularly heterogeneous disease, as many genetic alterations have been identified and the clinical features can vary. Although discoveries of frequent mutations including BRAF have already made clinically significant impact on patient care, there is a growing body of literature suggesting a role for additional mutations, driver and passenger types, in disease pathophysiology. Although some mutations have been strongly associated with clinical phenotypes of melanomas (such as physical distribution or morphologic subtype), the function or implications of many of the recently identified mutations remains less clear. The phenotypic and clinical impact of genomic mutations in melanoma remains a promising opportunity for progress in the care of melanoma patients. PMID:25183853

  4. Clinical Manifestations and Diagnosis of Acromegaly

    PubMed Central

    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

  5. Urological diagnosis using clinical PACS

    NASA Astrophysics Data System (ADS)

    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.

  6. [Diagnosis and differential diagnostic features of gender identity disorder].

    PubMed

    Kórász, Krisztián; Simon, Lajos

    2008-01-01

    Gender identity disorder, or transsexualism as it is more commonly known, is a highly complex clinical entity. It is an identifiable and incapacitating disease which can be diagnosed and successfully treated by reassignment surgery. The diagnosis of gender identity disorder can be a difficult process. Transsexual patients will have to undergo extensive psychiatric assessment. The authors review the development of nosology of transsexualism. The current classification systems, symptoms and diagnostic features of gender identity disorders are discussed. The article also discusses differential diagnostic features, like intersex states, psychosis, transvestitism, autogynephilia, gynandromorphophilia, and self-amputation. The authors also discuss the problem of comorbidity, as well. PMID:18956626

  7. Clinical and electrodiagnostic features of sciatic neuropathies.

    PubMed

    Distad, B Jane; Weiss, Michael D

    2013-02-01

    Sciatic neuropathy is the second most common neuropathy of the lower extremity and a common cause of foot drop. This article reviews the anatomy, clinical features, pathophysiology, and electrodiagnostic assessment of sciatic neuropathies. There are multiple potential sites of pathology, determined in part by the mechanism of insult, including trauma, compression, masses, inflammation, and vascular lesions. Diagnosis is augmented by careful electrodiagnostic studies and imaging to help distinguish sciatic neuropathy from other sources of pathology. Electrodiagnostic studies may also help in assessing for early recovery and in determining prognosis. PMID:23177034

  8. Clinical and Laboratory Diagnosis of Intestinal Tuberculosis

    PubMed Central

    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

  9. Is there an association between clinical features, response to diagnostic analgesia and radiological findings in horses with a magnetic resonance imaging diagnosis of navicular disease or other injuries of the podotrochlear apparatus?

    PubMed

    Parkes, Rebecca; Newton, Richard; Dyson, Sue

    2015-04-01

    Previous descriptions of the clinical features of navicular disease occurred before the widespread use of magnetic resonance imaging (MRI) allowed a more definitive diagnosis of foot pain. The objective of this study was to compare the clinical features of horses with lesions of the podotrochlear apparatus with those with other causes of foot pain. It was hypothesised that primary navicular bone disease would be associated with more advanced radiological findings than other diagnoses. A retrospective study was performed of all horses examined at a referral centre with a definitive diagnosis of foot pain based on MRI ± post-mortem examination. Clinical examination findings, response to diagnostic analgesia and radiological grading of the navicular bone were compared among five diagnosis groups: (1) primary navicular bone pathology (NB); (2) lesions of the collateral sesamoidean ligament and/or distal sesamoidean impar ligament (CSL + DSIL); (3) primary deep digital flexor tendon injury (DDFT); (4) navicular bone pathology and other lesions of the podotrochlear apparatus ± DDFT (PTA) and (5) Other. There were 702 horses (NB, 62; CSL + DSIL, 180; DDFT, 69; PTA, 92; Other, 299). Horses with PTA injuries were more frequently unilaterally lame than other groups (P = 0.04). Horses with DDFT injury were more likely to exhibit pain on turning than other groups (P <0.01). There were no associations between response to diagnostic analgesia and diagnostic group, and no association between radiological grade and diagnostic group. Clinical examination findings generally did not discriminate between diseases of the PTA and other causes of foot pain. Overall radiological scores of the navicular bone did not accurately predict navicular bone pathology. PMID:25724857

  10. Feature: Post Traumatic Stres Disorder PTSD: Symptoms, Diagnosis, Treatment

    MedlinePlus

    ... Home Current Issue Past Issues Feature PTSD Symptoms, Diagnosis , Treatment Past Issues / Winter 2009 Table of Contents ... outbursts Thoughts of hurting one's self or others Diagnosis As with other mental disorders, there are no ...

  11. Feature++: Automatic Feature Construction for Clinical Data Analysis.

    PubMed

    Sun, Wen; Hao, Bibo; Yu, Yiqin; Li, Jing; Hu, Gang; Xie, Guotong

    2016-01-01

    With the rapid growth of clinical data and knowledge, feature construction for clinical analysis becomes increasingly important and challenging. Given a clinical dataset with up to hundreds or thousands of columns, the traditional manual feature construction process is usually too labour intensive to generate a full spectrum of features with potential values. As a result, advanced large-scale data analysis technologies, such as feature selection for predictive modelling, cannot be fully utilized for clinical data analysis. In this paper, we propose an automatic feature construction framework for clinical data analysis, namely, Feature++. It leverages available public knowledge to understand the semantics of the clinical data, and is able to integrate external data sources to automatically construct new features based on predefined rules and clinical knowledge. We demonstrate the effectiveness of Feature++ in a typical predictive modelling use case with a public clinical dataset, and the results suggest that the proposed approach is able to fulfil typical feature construction tasks with minimal dataset specific configurations, so that more accurate models can be obtained from various clinical datasets in a more efficient way. PMID:27577443

  12. Clinical features of neuromyelitis optica in children

    PubMed Central

    Ness, Jayne; Krupp, Lauren; Waubant, Emmanuelle; Hunt, Tyler; Olsen, Cody S.; Rodriguez, Moses; Lotze, Tim; Gorman, Mark; Benson, Leslie; Belman, Anita; Weinstock-Guttman, Bianca; Aaen, Greg; Graves, Jennifer; Patterson, Marc; Rose, John W.; Casper, T. Charles

    2016-01-01

    Objective: To compare clinical features of pediatric neuromyelitis optica (NMO) to other pediatric demyelinating diseases. Methods: Review of a prospective multicenter database on children with demyelinating diseases. Case summaries documenting clinical and laboratory features were reviewed by an adjudication panel. Diagnoses were assigned in the following categories: multiple sclerosis (MS), acute disseminated encephalomyelitis, NMO, and recurrent demyelinating disease not otherwise specified. Results: Thirty-eight cases of NMO were identified by review panel, 97% of which met the revised International Panel on NMO Diagnosis NMO-SD 2014 criteria, but only 49% met 2006 Wingerchuk criteria. Serum or CSF NMO immunoglobulin G (IgG) was positive in 65% of NMO cases that were tested; however, some patients became seropositive more than 3 years after onset despite serial testing. No patient had positive CSF NMO IgG and negative serum NMO IgG in contemporaneous samples. Other than race (p = 0.02) and borderline findings for sex (p = 0.07), NMO IgG seropositive patients did not differ in demographic, clinical, or laboratory features from seronegatives. Visual, motor, and constitutional symptoms (including vomiting, fever, and seizures) were the most common presenting features of NMO. Initiation of disease-modifying treatment was delayed in NMO vs MS. Two years after onset, patients with NMO had higher attack rates, greater disability accrual measured by overall Expanded Disability Status Scale score, and visual scores than did patients with MS. Conclusion: The new criteria for NMO spectrum disorders apply well to the pediatric setting, and given significant delay in treatment of NMO compared to pediatric MS and worse short-term outcomes, it is imperative to apply these to improve access to treatment. PMID:26683648

  13. Clinical features of Bednar's aphthae in infants

    PubMed Central

    Nam, Seung-Woo; Ahn, Seol Hee; Shin, Son-Moon

    2016-01-01

    Purpose Although Bednar's aphthae are common and regress spontaneously, these lesions may lead to feeding intolerance and are often misdiagnosed, rendering examinations useless. This study sheds new light on the clinical features of Bednar's aphthae. Methods Sixteen neonates and infants were newly diagnosed with Bednar's aphthae via routine health check-ups in an outpatient clinic. Medical records were retrospectively reviewed, and the following parameters were analyzed; sex, gestational age, birth weight, mode of delivery, and perinatal problems. A physical examination was carried out during the next outpatient visit to examine the healing process and check for the existence of scars or complications. Results Initial presentation included changes in feeding habits (n=10), longer feeding time, reduced intake, and increased irritability. In 6 patients, Bednar's aphthae were discovered incidentally, without prior symptoms. Feeding posture and method of feeding are important causes of Bednar's aphthae. Eleven patients were fed in a horizontal position, whereas 5 patients were fed in a semiseated position. Fifteen patients were bottle-fed, whereas 1 patient was exclusively breastfed. After correcting the feeding position, the ulcerative lesions disappeared within 1 month of diagnosis. During the follow-up period, lesions did not recur in any of the patients. Conclusion This study suggests that Bednar's aphthae are caused by mechanical pressure. A diagnosis of Bednar's aphthae should be considered when lesions are found on the palate of infants and when symptoms seem to be feeding related. Proper education of parents can both treat Bednar's aphthae and easily prevent its recurrence. PMID:26893601

  14. Dermoscopic and clinical features of trunk melanomas

    PubMed Central

    Emiroglu, Nazan; Hofmann-Wellenhof, Rainer

    2014-01-01

    Introduction Malignant melanomas account for 5% of all skin cancers and usually have a fatal clinical course. Additionally, the incidence of melanoma increases more rapidly than in any other cancer, and this has been attributed to the development of highly sensitive diagnostic techniques, mainly dermoscopy, which allows for early diagnosis. The phenotypic manifestations of gene/environment interactions, environmental factor and genetic factors may determine subtypes and anatomic localization of melanoma. Histopathologic subtypes, risk factors, and thickness of the skin are different in trunk melanomas. Aim To determine the frequency of dermatoscopic features in trunk melanomas. This study also investigates dermoscopic features according to the diameter of lesions. Material and methods Seventy-one trunk melanomas were included. Their dermoscopic and clinical images, histopathological and clinical data were assessed. The relations between the diameter, Breslow thickness and dermoscopic characteristics were evaluated. Results The most common dermoscopic findings of trunk melanomas were the multicomponent pattern (55 patients, 77.5%), asymmetry (62 patients; 87.3%), blue-gray veil (59 patients, 83.1%), and color variety (56 patients, 78.8%). When dermoscopic findings were compared, a multicomponent pattern (p = 0.03), milky-red areas (p = 0.001), blue-gray veils (p = 0.023), and regression structures (p = 0.037) were more common in large melanomas than in small melanomas. Conclusions The most common dermoscopic findings of trunk melanomas were the multicomponent pattern, asymmetry and blue-gray veil, color variety. The multicomponent pattern, milky-red areas, blue-gray veils, regression structures were statistically significant dermoscopic features in a group of large-diameter melanomas, compared to small melanomas. PMID:25610350

  15. Autoimmune uveitis: clinical, pathogenetic, and therapeutic features.

    PubMed

    Prete, Marcella; Dammacco, Rosanna; Fatone, Maria Celeste; Racanelli, Vito

    2016-05-01

    Autoimmune uveitis (AU), an inflammatory non-infectious process of the vascular layer of the eye, can lead to visual impairment and, in the absence of a timely diagnosis and suitable therapy, can even result in total blindness. The majority of AU cases are idiopathic, whereas fewer than 20 % are associated with systemic diseases. The clinical severity of AU depends on whether the anterior, intermediate, or posterior part of the uvea is involved and may range from almost asymptomatic to rapidly sight-threatening forms. Race, genetic background, and environmental factors can also influence the clinical picture. The pathogenetic mechanism of AU is still poorly defined, given its remarkable heterogeneity and the many discrepancies between experimental and human uveitis. Even so, the onset of AU is thought to be related to an aberrant T cell-mediated immune response, triggered by inflammation and directed against retinal or cross-reactive antigens. B cells may also play a role in uveal antigen presentation and in the subsequent activation of T cells. The management of AU remains a challenge for clinicians, especially because of the paucity of randomized clinical trials that have systematically evaluated the effectiveness of different drugs. In addition to topical treatment, several different therapeutic options are available, although a standardized regimen is thus far lacking. Current guidelines recommend corticosteroids as the first-line therapy for patients with active AU. Immunosuppressive drugs may be subsequently required to treat steroid-resistant AU and for steroid-sparing purposes. The recent introduction of biological agents, such as those targeting tumor necrosis factor-α, is expected to remarkably increase the percentages of responders and to prevent irreversible sight impairment. This paper reviews the clinical features of AU and its crucial pathogenetic targets in relation to the current therapeutic perspectives. Also, the largest clinical trials

  16. Clinical features of conversion disorder.

    PubMed Central

    Grattan-Smith, P; Fairley, M; Procopis, P

    1988-01-01

    This study reviewed the case notes of 52 children diagnosed as suffering from hysterical conversion during admission to a paediatric teaching hospital over a 10 year period. The disorder was rare below 8 years of age and girls outnumbered boys three to one. Altogether 75% of the children presented during spring and summer; at the time of end of year exams and the beginning of the new school year. The presentation was usually polysymptomatic with gait disturbance being the main complaint in 36 children. Sensory abnormality, predominantly pain, was present in 40 children; this indicates a strong association between psychogenic pain and conversion disorder in children. At discharge 32 were completely recovered or had appreciably improved. There was a core group that presented particular difficulties with diagnosis and showed little positive response to treatment. PMID:3365011

  17. Rosacea: clinical features and treatment.

    PubMed

    Lavers, Isabel

    2016-03-30

    Rosacea is a chronic inflammatory skin condition that predominantly affects the central face. It is characterised by a variable range of symptoms, including erythema, telangiectasia, papules, pustules and changes in skin texture. Rosacea may be transient, recurrent or persistent. Because it affects the most visible part of the body, the psychosocial effects of this condition can be significant. This article describes the features and management of the condition. PMID:27027198

  18. Clinical features of gastroenteropancreatic tumours

    PubMed Central

    Czarnywojtek, Agata; Bączyk, Maciej; Ziemnicka, Katarzyna; Fischbach, Jakub; Wrotkowska, Elżbieta; Ruchała, Marek

    2015-01-01

    Gastroenteropancreatic (GEP) endocrine tumours (carcinoids and pancreatic islet cell tumours) are composed of multipotent neuroendocrine cells that exhibit a unique ability to produce, store, and secrete biologically active substances and cause distinct clinical syndromes. The classification of GEP tumours as functioning or non-functioning is based on the presence of symptoms that accompany these syndromes secondary to the secretion of hormones, neuropeptides and/or neurotransmitters (functioning tumours). Non-functioning tumours are considered to be neoplasms of neuroendocrine differentiation that are not associated with obvious symptoms attributed to the hypersecretion of metabolically active substances. However, a number of these tumours are either capable of producing low levels of such substances, which can be detected by immunohistochemistry but are insufficient to cause symptoms related to a clinical syndrome, or alternatively, they may secrete substances that are either metabolically inactive or inappropriately processed. In some cases, GEP tumours are not associated with the production of any hormone or neurotransmitter. Both functioning and non-functioning tumours can also produce symptoms due to mass effects compressing vital surrounding structures. Gastroenteropancreatic tumours are usually classified further according to the anatomic site of origin: foregut (including respiratory tract, thymus, stomach, duodenum, and pancreas), midgut (including small intestine, appendix, and right colon), and hindgut (including transverse colon, sigmoid, and rectum). Within these subgroups the biological and clinical characteristics of the tumours vary considerably, but this classification is still in use because a significant number of previous studies, mainly observational, have used it extensively. PMID:26516377

  19. Fat embolism: a clinical diagnosis.

    PubMed

    Miller, J D

    1987-01-01

    Fat embolism causes a distinctive clinical syndrome usually seen in trauma victims with long bone fractures. Clinical findings include hyperthermia, respiratory distress, petechiae and retinal fat emboli. Neurologic changes include decreased sensorium, decerebrate posturing and seizure activity. Chest radiographs commonly demonstrate bilateral fluffy infiltrates. Laboratory abnormalities include hypoxemia, respiratory alkalosis, anemia and hypocalcemia. Treatment consists of general supportive care with vigorous pulmonary therapy. Most patients have a good recovery. PMID:3799415

  20. Oral candidosis. Clinical, historical, and therapeutic features of 100 cases.

    PubMed

    Fotos, P G; Vincent, S D; Hellstein, J W

    1992-07-01

    Oral candidosis is an increasingly important disease that affects a significant percentage of the population. Traditionally known as an opportunistic pathogen, the broader clinical scope of oropharyngeal candidal infections is now being recognized. The clinical and historical features of 100 patients referred for diagnosis and management of candidosis have been reviewed. The age, gender, chief complaint, medical history, medications, and clinical findings have been noted. A wide range of clinical signs and symptoms, and the rationale behind the topical and systemic antifungal therapies provided to this patient population, are discussed. PMID:1508508

  1. [Clinical features of Wei Yuheng].

    PubMed

    Yu, Zhong-yuan

    2006-04-01

    Wei Yuheng held that the endogenous miscellaneous diseases are mostly caused by liver diseases, highly stressed the treating method of nourishing yin to generate liver. He claimed that liver deficiency is mostly caused by congenital factors, sexual strain or improper treatment. He criticized that the improper treatment by elder generations mainly was caused by their ignorance of tonifying the liver based on the saying of "no tonifying treatment for the liver". Wei Yuheng's medical theories and clinical experiences are scattered in his book Xu Mingyi Lei'an (Supplement to Classified Case Records of Celebrated Physicians). Wang Mengying collected part of his thoughts and experiences and wrote the book Liuzhou Yihua (Liuzhou Medical Talks). Although Wang Mengying's book could deduce part of the thoughts of Wei Yuheng, it didn't disclose his theories completely. It is known to all that the compound recipe Yiguan Jian is a representative formula of Wei Yuheng to tonify liver yin. Actually, it can be concluded from the analysis of Xu Mingyi Lei'an that he used Fructus Lycii (Gouqi) as a main herb to tonify liver yin in the method of nourishing yin to generate liver. Based on the idea that there are accept, restriction, generation and transformation relationship among the lung, kidney and liver yin, so he also always used Radix Glehniae (Beishashen), Radix Ophiopogonis (Maidong), Radix Rehmanniae Recens (Shengdihuang), and Radix Rehmanniae Preparata (Shudihuang) in his compound recipes. If the yin blood is insufficient, Semen Ziziphi Spinosae (Suanzaoren) should be added. In order to prepare a out way for phlegm-heat caused dy liver yin deficiency, a lubricative, Semen Trichosanthis (Gualouren) was always used and raw Semen Coicis Recens (Shengyiyiren) too. Sichuan Rhizoma Coptidis (Chuanhuanglian) can be used to clear fire-heat, and Fructus Meliae Toosendan (Chuanlianzi) for pain caused by fire-heat. PMID:17096983

  2. Clinical and microbiological diagnosis of oral candidiasis

    PubMed Central

    Jiménez-Soriano, Yolanda

    2013-01-01

    Introduction: Candidiasis or oral candidiasis is the most frequent mucocutaneous mycosis of the oral cavity. It is produced by the genus Candida, which is found in the oral cavity of 53% of the general population as a common commensal organism. One hundred and fifty species have been isolated in the oral cavity, and 80% of the isolates correspond to Candida albicans, which can colonize the oral cavity alone or in combination with other species. Transformation from commensal organism to pathogen depends on the intervention of different predisposing factors that modify the microenvironment of the oral cavity and favor the appearance of opportunistic infection. The present study offers a literature review on the diagnosis of oral candidiasis, with the purpose of establishing when complementary microbiological techniques for the diagnosis of oral candidiasis should be used, and which techniques are most commonly employed in routine clinical practice in order to establish a definitive diagnosis. Materials and methods: A Medline-PubMed, Scopus and Cochrane search was made covering the last 10 years. Results: The diagnosis of oral candidiasis is fundamentally clinical. Microbiological techniques are used when the clinical diagnosis needs to be confirmed, for establishing a differential diagnosis with other diseases, and in cases characterized by resistance to antifungal drugs. Biopsies in turn are indicated in patients with hyperplastic candidiasis. Staining (10% KOH) and culture (Sabouraud dextrose agar) are the methods most commonly used for diagnosing primary candidiasis. Identification of the individual species of Candida is usually carried out with CHROMagar Candida®. For the diagnosis of invasive candidiasis, and in cases requiring differentiation between C. albicans and C. dubliniensis, use is made of immunological and genetic techniques such as ELISA and PCR. Key words:Clinical, oral candidiasis, microbiology. PMID:24455095

  3. Accuracy of clinical diagnosis in knee arthroscopy.

    PubMed Central

    Brooks, Stuart; Morgan, Mamdouh

    2002-01-01

    A prospective study of 238 patients was performed in a district general hospital to assess current diagnostic accuracy rates and to ascertain the use and the effectiveness of magnetic resonance imaging (MRI) scanning in reducing the number of negative arthroscopies. The pre-operative diagnosis of patients listed for knee arthroscopy was medial meniscus tear 94 (40%) and osteoarthritis 59 (25%). MRI scans were requested in 57 patients (24%) with medial meniscus tear representing 65% (37 patients). The correlation study was done between pre-operative diagnosis, MRI and arthroscopic diagnosis. Clinical diagnosis was as accurate as the MRI with 79% agreement between the preoperative diagnosis and arthroscopy compared to 77% agreement between MRI scan and arthroscopy. There was no evidence, in this study, that MRI scan can reduce the number of negative arthroscopies. Four normal MRI scans had positive arthroscopic diagnosis (two torn medial meniscus, one torn lateral meniscus and one chondromalacia patella). Out of 240 arthroscopies, there were only 10 normal knees (negative arthroscopy) representing 4% of the total number of knee arthroscopies; one patient of those 10 cases had MRI scan with ACL rupture diagnosis. Images Figure 1 Figure 2 PMID:12215031

  4. Orofacial tuberculosis: Clinical manifestations, diagnosis and management

    PubMed Central

    Bansal, Ramta; Jain, Aditya; Mittal, Sunandan

    2015-01-01

    Orofacial tuberculosis (TB) is an uncommon form of extrapulmonary TB and is nonspecific in its clinical presentation. It can be misdiagnosed especially when oral lesions are present before systemic symptoms become apparent. Doctors especially attending dentist who generally is the first among clinicians to come across such pathological entity should be aware of the orofacial lesions of TB and consider them in the differential diagnosis of suspicious oral lesions to ensure early diagnosis of TB and its treatment. In this review, we have discussed in detail the clinical presentation of various forms of orofacial TB, diagnosis, and management of patients. Also, an update is provided about recent anti-TB drug development. PMID:26288770

  5. Pineal cyst: a review of clinical and radiological features.

    PubMed

    Choy, Winward; Kim, Won; Spasic, Marko; Voth, Brittany; Yew, Andrew; Yang, Isaac

    2011-07-01

    Pineal cysts (PCs) are benign and often asymptomatic lesions of the pineal region that are typically small and do not change in size over time. PCs appear as small, well circumscribed, unilocular masses that either reside within or completely replace the pineal gland. This article reviews and discusses the characteristic features of PCs-clinical, histological, and identifiable by various imaging modalities-which assist clinicians in narrowing the differential diagnosis for pineal lesions. PMID:21801982

  6. Idiopathic Pulmonary Fibrosis: Diagnosis and Clinical Manifestations

    PubMed Central

    Nakamura, Yutaro; Suda, Takafumi

    2015-01-01

    Idiopathic pulmonary fibrosis (IPF) is a parenchymal lung disease characterized by progressive interstitial fibrosis. The clinical course of IPF can be unpredictable and may be punctuated by acute exacerbations. Although much progress is being made in unraveling the mechanisms underlying IPF, effective therapy for improving survival remains elusive. Longitudinal disease profiling, especially in terms of clinical manifestations in a large cohort of patients, should lead to proper management of the patients and development of new treatments for IPF. Appropriate multidisciplinary assessment in ongoing registries is required to achieve this. This review summarizes the current status of the diagnosis and clinical manifestations of IPF.

  7. Clinical and dermatoscopic features of porokeratosis palmaris et plantaris.

    PubMed

    Udare, Satish; Hemmady, Karishma

    2016-01-01

    A dermatoscope is an important tool in a dermatologist's armamentarium as it can eliminate the need for a biopsy in a wide array of conditions. Porokeratosis was described by Mibelli and Respighi in 1893, as a disorder of keratinization which on the basis of distribution patterns was described as five clinical variants that portrayed a coronoid lamella on histopathology. We describe a case of asymptomatic, long-standing palmar and plantar pits, which on dermatoscopy showed features suggestive of porokeratosis, which was later reconfirmed by histopathologic sections. This report depicts diagnostic features of porokeratosis and obviates the need for invasive procedures for its diagnosis. PMID:27559506

  8. Clinical and dermatoscopic features of porokeratosis palmaris et plantaris

    PubMed Central

    Udare, Satish; Hemmady, Karishma

    2016-01-01

    A dermatoscope is an important tool in a dermatologist's armamentarium as it can eliminate the need for a biopsy in a wide array of conditions. Porokeratosis was described by Mibelli and Respighi in 1893, as a disorder of keratinization which on the basis of distribution patterns was described as five clinical variants that portrayed a coronoid lamella on histopathology. We describe a case of asymptomatic, long-standing palmar and plantar pits, which on dermatoscopy showed features suggestive of porokeratosis, which was later reconfirmed by histopathologic sections. This report depicts diagnostic features of porokeratosis and obviates the need for invasive procedures for its diagnosis. PMID:27559506

  9. [Neurosarcoidosis - clinical characteristics, diagnosis and treatment].

    PubMed

    Horyniecki, Maciej; Konieczna, Marta; Torbus, Magdalena; Pierzchała, Krystyna; Wawrzyńczyk, Maciej; Łabuz-Roszak, Beata

    2016-01-01

    Neurosarcoidosis (NS) manifests itself clinically in approximately 8-13% of patients with sarcoidosis. Granulomas are localized in both the central and peripheral nervous system, mainly within the meninges and cranial nerves. Changes may spread interstitially, occupying different structures of the brain and spinal cord. Diagnosis of NS is made by characteristic clinical symptoms and the exclusion of other diseases, with the presence of specific changes in the magnetic resonance and cerebrospinal fluid, and it is mainly based on histopathological examination. The first choice treatment are corticosteroids. In case of failure or adverse events, methotrexate, azathioprine, cyclosporine, cyclophosphamide, mycophenolate mofetil and infliximab could be used. PMID:27164284

  10. Clinical presentations and diagnosis of brucellosis.

    PubMed

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

    2013-04-01

    Brucellosis is a worldwide zoonosis caused by Brucella species. The disease remains a significant economic and public health problem particularly in the Mediterranean countries. Clinical manifestations of brucellosis are variable and often nonspecific, simulating infectious and noninfectious diseases. Osteoarticular involvement is the most common focal complication of brucellosis and morbidity. Mortality rate due to brucellosis is low, mostly secondary to endocarditis and central nerve involvement of disease. The diagnosis of brucellosis depends on the clinical presentations and laboratory tests. Detection of Brucella species by culture method is sometimes unsuccessful; therefore, serological tests are preferred. These tests are easy to perform, and results can be obtained within a short span of time. Several serologic tests have been developed for the diagnosis of human brucellosis, including the standard agglutination tube (SAT) test, anti-human globulin (Coombs) test, indirect fluorescence antibody (IFA) test, and enzyme-linked immunosorbent assay (ELISA). SAT is the primary test used in many clinical laboratories. IFA and ELISA are simple and reliable for the detection of immunoglobulin classes especially in complicated cases. Polymerase chain reaction (PCR) technique is highly sensitive and specific for the determination of Brucella spp. from peripheral blood and other tissues. Recent patents are especially based on molecular assays in the diagnosis of brucellosis. However, PCR is still expensive and may not be appropriate for daily practice. PMID:22873352

  11. Clinical and laboratory diagnosis of influenza.

    PubMed

    Rodrigo, Carlos; Méndez, Maria

    2012-01-01

    The clinical diagnosis of influenza can be very difficult or rather easy depending on the circumstances. It's easy when the epidemiological context is appropriate; the patient is a school kid or a teenager, and the symptoms are typical. On the other hand, it is hard when it fails to match any of the above premises, the more imformation that is missing, the more difficult it becomes. The symptomatology is correlated with age; therefore, typical clinical manifestations are only referred from 3-4 y old: rhinitis, fever with or without chills, cough, headache, joint and muscle pain and malaise. The patient often says he/she "feels sick" but his/her general condition is not at all serious. A rapid influenza diagnosis has been shown to reduce unnecessary test and antibiotics in pediatric patients and allows rational use of antivirals, early discharge from emergency departments and hospital wards, appropriate infection control measures and cohorting of infected patients. Tests that yield results in a timely manner that can influence clinical management are recommended to guide patient care. Results of testing should take into account the a priori likelihood of influenza infection based on the patient's signs and symptoms, the sensitivity and specificity of the test used, and information on circulation of influenza in the community. Failing to use the option of microbiological diagnosis when appropriate is a missed opportunity that can generate anxiety without justification, avoid unnecessarily antibiotics, omit antiviral therapy when convenient, and a teaching possibility. PMID:22251993

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

    PubMed Central

    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. PMID:25328750

  13. Clinical diagnosis of hyposalivation in hospitalized patients

    PubMed Central

    BERTI-COUTO, Soraya de Azambuja; COUTO-SOUZA, Paulo Henrique; JACOBS, Reinhilde; NACKAERTS, Olivia; RUBIRA-BULLEN, Izabel Regina Fischer; WESTPHALEN, Fernando Henrique; MOYSÉS, Samuel Jorge; IGNÁCIO, Sérgio Aparecido; da COSTA, Maitê Barroso; TOLAZZI, Ana Lúcia

    2012-01-01

    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. PMID:22666830

  14. Diagnosis of Neurodegenerative Diseases: The Clinical Approach.

    PubMed

    Gómez-Río, Manuel; Caballero, Manuel Moreno; Górriz Sáez, Juan Manuel; Mínguez-Castellanos, Adolfo

    2016-01-01

    There are a number of clinical questions for which there are no easy answers, even for well-trained doctors. The diagnostic tool commonly used to assess cognitive impairment in neurodegenerative diseases is based on established clinical criteria. However, the differential diagnosis between disorders can be difficult, especially in early phases or atypical variants. This takes on particular importance when it is still possible to use an appropriate treatment. To solve this problem, physicians need to have access to an arsenal of diagnostic tests, such as neurofunctional imaging, that allow higher specificity in clinical assessment. However, the reliability of diagnostic tests may vary from one to the next, so the diagnostic validity of a given investigation must be estimated by comparing the results obtained from "true" criteria to the "gold standard" or reference test. While pathological analysis is considered to be the gold standard in a wide spectrum of diseases, it cannot be applied to neurological processes. Other approaches could provide solutions, including clinical patient follow-up, creation of a data bank or use of computer-aided diagnostic algorithms. In this article, we discuss the development of different methodological procedures related to analysis of diagnostic validity and present an example from our own experience based on the use of I-123-ioflupane-SPECT in the study of patients with movement disorders. The aim of this chapter is to approach the problem of diagnosis from the point of view of the clinician, taking into account specific aspects of neurodegenerative disease. PMID:26567736

  15. Texture Feature Extraction and Classification for Iris Diagnosis

    NASA Astrophysics Data System (ADS)

    Ma, Lin; Li, Naimin

    Appling computer aided techniques in iris image processing, and combining occidental iridology with the traditional Chinese medicine is a challenging research area in digital image processing and artificial intelligence. This paper proposes an iridology model that consists the iris image pre-processing, texture feature analysis and disease classification. To the pre-processing, a 2-step iris localization approach is proposed; a 2-D Gabor filter based texture analysis and a texture fractal dimension estimation method are proposed for pathological feature extraction; and at last support vector machines are constructed to recognize 2 typical diseases such as the alimentary canal disease and the nerve system disease. Experimental results show that the proposed iridology diagnosis model is quite effective and promising for medical diagnosis and health surveillance for both hospital and public use.

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

    PubMed

    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

  17. Influence of Familiar Features on Diagnosis: Instantiated Features in an Applied Setting

    ERIC Educational Resources Information Center

    Dore, Kelly L.; Brooks, Lee R.; Weaver, Bruce; Norman, Geoffrey R.

    2012-01-01

    Medical diagnosis can be viewed as a categorization task. There are two mechanisms whereby humans make categorical judgments: "analytical reasoning," based on explicit consideration of features and "nonanalytical reasoning," an unconscious holistic process of matching against prior exemplars. However, there is evidence that prior experience can…

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

    PubMed

    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

  19. [Asperger syndrome. Diagnosis criteria and clinical picture].

    PubMed

    Wahlberg, Ernesto

    2005-01-01

    Asperger syndrome (A.S) is not a very well-known disorder due to its recent incorporation to the international nosography of mental disorders during the early 90s. The intention of this article is to describe the clinical picture with its symptomatic diversity. It will show how the diagnostic criteria were developed since the presentation by Asperger in 1944, to the classification consensed nowadays. It also presents the situations in which this diagnosis is most frequent to facilitate its detection and to permit a more extensive assessment leading to a more accurate treatment. PMID:16077869

  20. Clinical Features of Genetic Cardiac Diseases Related to Potassium Channelopathies.

    PubMed

    Adler, Arnon; Viskin, Sami

    2016-06-01

    Genetic cardiac diseases related to potassium channelopathies are a group of relatively rare syndromes that includes long QT syndrome, short QT syndrome, Brugada syndrome, and early repolarization syndrome. Patients with these syndromes share a propensity for the development of life-threatening ventricular arrhythmias in the absence of significant cardiac structural abnormalities. Familial atrial fibrillation has also been associated with potassium channel dysfunction but differs from the other syndromes by being a rare cause of a common condition. This article focuses on the clinical features, diagnosis, and management of these syndromes. PMID:27261827

  1. Idiopathic Pulmonary Fibrosis: Epidemiology, Clinical Features, Prognosis, and Management.

    PubMed

    Lynch, Joseph P; Huynh, Richard H; Fishbein, Michael C; Saggar, Rajan; Belperio, John A; Weigt, S Sam

    2016-06-01

    Idiopathic pulmonary fibrosis (IPF) is a specific form of chronic interstitial lung pneumonia associated with the histologic pattern of usual interstitial pneumonia (UIP). Although UIP is a distinct histologic lesion, this histologic pattern is not specific for IPF and can also be found in other diseases (e.g., connective tissue disease and asbestosis). Clinical features of IPF include progressive cough, dyspnea, restrictive ventilatory defect, and progressive fibrosis and destruction of the lung parenchyma. IPF is rare (13-42 cases/100,000), and primarily affects older adults (>50 years of age). The diagnosis of IPF often requires surgical lung biopsy, but the diagnosis can be affirmed with confidence in some patients provided the results of computed tomographic (CT) scans and clinical features are consistent. The clinical course is variable, but inexorable progression (typically over months to years) is typical. Mean survival from the onset of symptoms approximates 3 to 5 years. Medical treatment is only modestly effective, primarily by slowing the rate of disease progression. Lung transplantation is the best therapeutic option. PMID:27231859

  2. [Cardiac sarcoidosis - clinical manifestation and diagnosis].

    PubMed

    Błaut-Jurkowska, Justyna; Podolec, Piotr; Olszowska, Maria

    2016-08-01

    Sarcoidosis is a multisystem inflammatory disease defined histologically by the formation of noncaseating granulomas. The etiology of sarcoidosis remains unknown. Heart involvement in the course of sarcoidosis concerns about 5% of patients. The most common manifestation of cardiac sarcoidosis are conduction abnormalities, arrhythmias and heart failure. The diagnostic algorithm includes performing a clinical history, a 12-lead electrocardiogram (ECG) and an echocardiogram. If any of the initial screening investigations yields an abnormality, diagnostics should be continue using advanced imaging techniques: cardiovascular magnetic resonance (CMR) or fluorodeoxyglucose positron emission tomography (FDG-PET). Nowadays endomyocardial biopsy is not performed routinely.The clinical picture of cardiac sarcoidosis is highly variable. Screening for cardiac sarcoidosis should be performed in all patients diagnosed with extracardiac sarcoidosis. Cardiac sarcoidosis should also be suspected in young patients without a diagnosis of sarcoidosis who present with conduction abnormalities of unknown etiology, because cardiac sarcoidosis may be the first or the only manifestation of the disease. PMID:27591449

  3. [Cardiac sarcoidosis - clinical manifestation and diagnosis].

    PubMed

    Błaut-Jurkowska, Justyna; Podolec, Piotr; Olszowska, Maria

    2016-07-01

    Sarcoidosis is a multisystem inflammatory disease defined histologically by the formation of noncaseating granulomas. The etiology of sarcoidosis remains unknown. Heart involvement in the course of sarcoidosis concerns about 5% of patients. The most common manifestation of cardiac sarcoidosis are conduction abnormalities, arrhythmias and heart failure. The diagnostic algorithm includes performing a clinical history, a 12-lead electrocardiogram (ECG) and an echocardiogram. If any of the initial screening investigations yields an abnormality, diagnostics should be continue using advanced imaging techniques: cardiovascular magnetic resonance (CMR) or fluorodeoxyglucose positron emission tomography (FDG-PET). Nowadays endomyocardial biopsy is not performed routinely.The clinical picture of cardiac sarcoidosis is highly variable. Screening for cardiac sarcoidosis should be performed in all patients diagnosed with extracardiac sarcoidosis. Cardiac sarcoidosis should also be suspected in young patients without a diagnosis of sarcoidosis who present with conduction abnormalities of unknown etiology, because cardiac sarcoidosis may be the first or the only manifestation of the disease. PMID:27590654

  4. Differences in clinical features of Crohn's disease and intestinal tuberculosis

    PubMed Central

    Huang, Xin; Liao, Wang-Di; Yu, Chen; Tu, Yi; Pan, Xiao-Lin; Chen, You-Xiang; Lv, Nong-Hua; Zhu, Xuan

    2015-01-01

    AIM: To investigate the clinical features of Crohn’s disease (CD) and intestinal tuberculosis (ITB) with a scoring system that we have developed. METHODS: A total of 25 CD and 40 ITB patients were prospectively enrolled from August 2011 to July 2012. Their characteristics and clinical features were recorded. Laboratory, endoscopic, histologic and radiographic features were determined. The features with a high specificity were selected to establish a scoring system. The features supporting CD scored +1, and those supporting ITB scored -1; each patient received a final total score. A receiver operating characteristic (ROC) curve was used to determine the best cut-off value for distinguishing CD from ITB. RESULTS: Based on a high specificity of differentiating between CD and ITB, 12 features, including longitudinal ulcers, nodular hyperplasia, cobblestone-like mucosa, intestinal diseases, intestinal fistula, the target sign, the comb sign, night sweats, the purified protein derivative test, the interferon-γ release assay (T-SPOT.TB), ring ulcers and ulcer scars, were selected for the scoring system. The results showed that the average total score of the CD group was 3.12 ± 1.740, the average total score of the ITB group was -2.58 ± 0.984, the best cutoff value for the ROC curve was -0.5, and the diagnostic area under the curve was 0.997, which was statistically significant (P < 0.001). The patients whose total scores were higher than -0.5 were diagnosed with CD; otherwise, patients were diagnosed with ITB. Overall, the diagnostic accuracy rate and misdiagnosis rate of this scoring system were 97% and 3%, respectively. CONCLUSION: Some clinical features are valuable for CD and ITB diagnosis. The described scoring system is key to differentiating between CD and ITB. PMID:25834333

  5. Refining clinical diagnosis with likelihood ratios.

    PubMed

    Grimes, David A; Schulz, Kenneth F

    Likelihood ratios can refine clinical diagnosis on the basis of signs and symptoms; however, they are underused for patients' care. A likelihood ratio is the percentage of ill people with a given test result divided by the percentage of well individuals with the same result. Ideally, abnormal test results should be much more typical in ill individuals than in those who are well (high likelihood ratio) and normal test results should be most frequent in well people than in sick people (low likelihood ratio). Likelihood ratios near unity have little effect on decision-making; by contrast, high or low ratios can greatly shift the clinician's estimate of the probability of disease. Likelihood ratios can be calculated not only for dichotomous (positive or negative) tests but also for tests with multiple levels of results, such as creatine kinase or ventilation-perfusion scans. When combined with an accurate clinical diagnosis, likelihood ratios from ancillary tests improve diagnostic accuracy in a synergistic manner. PMID:15850636

  6. Hyperprolactinemia in children: clinical features and long-term results.

    PubMed

    Catli, Gonul; Abaci, Ayhan; Altincik, Ayca; Demir, Korcan; Can, Sule; Buyukgebiz, Atilla; Bober, Ece

    2012-01-01

    Hyperprolactinemia is a rare endocrine disorder in childhood, which may result from hypophyseal adenoma. We aimed to review the etiologic reasons and clinical features in hyperprolactinemia patients retrospectively. The mean age of 11 female patients at diagnosis was 14.2 ± 1.3 years. Five patients had microadenoma, four patients had macroadenoma, and two patients were diagnosed with idiopathic hyperprolactinemia. The most frequent symptoms were menstrual disorders, headache, and galactorrhea, and one-third of the patients had obesity at diagnosis. There was no anterior pituitary hormone deficiency. All patients received bromocriptine as initial therapy; only two patients with macroadenoma and one patient with microadenoma were switched to cabergoline. Transsphenoidal surgery was performed for a patient with macroadenoma, who had cavernous sinus invasion and visual field defect. Medical treatment should be the first-line treatment option in both microadenoma and macroadenoma cases without any neurological signs. Surgery should be employed with limited indications. PMID:23329759

  7. Diagnosis and Clinical Course of Unexplained Dysphagia

    PubMed Central

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

    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 or normal VFSS group based on the VFSS findings. The clinical course and final diagnosis of each patient were examined. Results Among the 143 patients, 62 (43%) had a previous history of diseases that could affect swallowing. Of the remaining 81 patients, 58 (72.5%) had normal VFSS findings and 23 (27.5%) had abnormal VFSS findings. A clear cause of dysphagia was not identified in 9 of the 23 patients. In patients in whom a cause was determined, myopathy was the most common cause (n=6), followed by laryngeal neuropathy (n=4) and drug-induced dysphagia (n=3). The mean ages of the patients in the normal and abnormal VFSS groups differed significantly (62.52±15.00 vs. 76.83±10.24 years, respectively; p<0.001 by Student t-test). Conclusion Careful history taking and physical examination are the most important approaches for evaluating patients with unexplained swallowing difficulty. Even if VFSS findings are normal in the pharyngeal phase, some patients may need additional examinations. Electrodiagnostic studies and laboratory tests should be considered for patients with abnormal VFSS findings. PMID:26949675

  8. Automatic Diagnosis of Mild Cognitive Impairment Using Electroencephalogram Spectral Features

    PubMed Central

    Kashefpoor, Masoud; Rabbani, Hossein; Barekatain, Majid

    2016-01-01

    Alzheimer's disease (AD) is one of the most expensive and fatal diseases in the elderly population. Up to now, no cure have been found for AD, so early stage diagnosis is the only way to control it. Mild cognitive impairment (MCI) usually is the early stage of AD which is defined as decreasing in mental abilities such a cognition, memory, and speech not too severe to interfere daily activities. MCI diagnosis is rather hard and usually assumed as normal consequences of aging. This study proposes an accurate, mobile, and nonexpensive diagnostic approach based on electroencephalogram (EEG) signal. EEG signals were recorded using 19 electrodes positioned according to the 10–20 International system at resting eyes closed state from 16 normal and 11 MCI participants. Nineteen Spectral features are computed for each channel and examined using a correlation based algorithm to select the best discriminative features. Selected features are classified using a combination of neurofuzzy system and k-nearest neighbor classifier. Final results reach 88.89%, 100%, and 83.33% for accuracy, sensitivity, and specificity, respectively, which shows the potential of proposed method to be used as an MCI diagnostic tool, especially for screening a large population. PMID:27014609

  9. Confetti-like Sparing: A Diagnostic Clinical Feature of Melasma.

    PubMed

    Wu, Douglas C; Fitzpatrick, Richard E; Goldman, Mitchel P

    2016-02-01

    Diagnostic uncertainty when a patient presents with melasma-like Undings can lead to suboptimal treatment and inaccurate prognostic expectations. In this study, the authors present a unique clinical feature of melasma that they term the "Fitzpatrick macule" and test its Utility in establishing diagnostic certainty. The "Fitzpatrick macule" is a confetti-like macule of regularly pigmented skin located within a larger patch of melasma hyperpigmentation. To test its diagnostic Utility, the authors compared clinical photography of known cases of melasma with common mimickers, such as poikiloderma of Civatte and solar lentiginosis, and determined the positivity rate of the Fitzpatrick macule in each scenario. Their results show that 89.1 percent of clinical photographs of melasma were positive for the presence of Fitzpatrick macules compared to 1.1 percent that were negative. In contrast, 37.5 and 56.3 percent of clinical photographs of poikiloderma of Civatte were positive and negative for Fitzpatrick macules, respectively. Solar lentiginosis showed a 5.6 percent positivity and a 77.8 percent negativity for Fitzpatrick macules. The sensitivity and specificity of Fitzpatrick macules for melasma was 99 and 83 percent, respectively. In summary, the authors report a highly sensitive and specific clinical feature of melasma. In cases of diagnostic uncertainty, the presence of Fitzpatrick macules may aid in establishing a diagnosis of melasma. PMID:27047632

  10. Automatic diagnosis of lumbar disc herniation with shape and appearance features from MRI

    NASA Astrophysics Data System (ADS)

    Alomari, Raja'S.; Corso, Jason J.; Chaudhary, Vipin; Dhillon, Gurmeet

    2010-03-01

    Intervertebral disc herniation is a major reason for lower back pain (LBP), which is the second most common neurological ailment in the United States. Automation of herniated disc diagnosis reduces the large burden on radiologists who have to diagnose hundreds of cases each day using clinical MRI. We present a method for automatic diagnosis of lumbar disc herniation using appearance and shape features. We jointly use the intensity signal for modeling the appearance of herniated disc and the active shape model for modeling the shape of herniated disc. We utilize a Gibbs distribution for classification of discs using appearance and shape features. We use 33 clinical MRI cases of the lumbar area for training and testing both appearance and shape models. We achieve over 91% accuracy in detection of herniation in a cross-validation experiment with specificity of 91% and sensitivity of 94%.

  11. Knee arthropathy in ochronosis: diagnosis by arthroscopy with ultrastructural features.

    PubMed

    Lurie, D P; Musil, G

    1984-02-01

    Knee arthroscopy in a patient with undiagnosed chronic monoarticular arthritis revealed dark pigmentation of the snyovium; synovial biopsy revealed histologic and ultrastructural features characteristic of ochronosis. Synovial fluid (SF) was non-inflammatory, without pigmented shards of cartilage; calcium pyrophosphate dihydrate crystals were absent in both the SF and biopsy specimen. Homogentisic acid was detectable in the urine by thin layer chromatography, and asymptomatic spondylosis with intervertebral disc calcification was found. The negative family history, lack of mucocutaneous pigmentation and failure of the urine to spontaneously darken obscured the diagnosis, which was easily made by arthroscopy. PMID:6699824

  12. Punctate follicular porokeratosis: clinical and pathologic features.

    PubMed

    Trikha, Ritika; Wile, Anna; King, Joy; Ward, Kimberley H M; Brodell, Robert T

    2015-11-01

    Porokeratosis is a disorder of keratinization characterized by an abnormal cornoid lamella surrounding an annular, scaly plaque with an atrophic center. A histologic variant of this condition has been proposed, termed follicular porokeratosis, in cases where follicular involvement was contiguous with an annular cornoid lamella. There has been only 1 report of punctate follicular porokeratosis, in which cornoid lamellae originated exclusively from hair follicles with no associated annular plaque. The authors present the second case of punctate follicular porokeratosis, further supporting the contention that this entity is a unique form of porokeratosis rather than a histologic variant. A 56-year-old African American female presented to the dermatology clinic with a 3-month history of keratotic lesions localized on the right posterior shoulder. Examination revealed an area of perifollicular keratotic papules, each surrounded by an erythematous rim. Histopathology revealed a cornoid lamella originating within a hair follicle, with the parakeratotic column protruding through the follicular orifice. The static nature of the condition along with exclusive involvement of hair follicles supports the notion of punctate follicular porokeratosis as a distinct clinical entity. The diagnosis of this condition relies heavily on proper histopathologic sampling revealing punctate follicular cornoid lamellae. PMID:26485244

  13. [Lung sarcoidosis: Clinical features and therapeutic issues].

    PubMed

    Uzunhan, Y; Jeny, F; Crockett, F; Piver, D; Kambouchner, M; Valeyre, D; Nunes, H

    2016-09-01

    Sarcoidosis is a granulomatous disease of unknown cause. This proteiform disease is characterized by an almost constant and often predominant lung involvement. The natural history of disease is difficult to predict at presentation. Diagnosis is based on a compatible clinical and radiological presentation and evidence of non-caseating granulomas. Exclusion of alternative diseases is also required according to clinical presentation. Biopsy samples of superficial lesions should be considered before other sites like per-endoscopic bronchial biopsies or endobronchial ultrasound-guided transbronchial needle aspiration. Therapeutic strategy for lung disease has to take into account the possible spontaneous resolution observed in newly diagnosed patients. Corticosteroids are the first choice when a treatment is decided, which concerns half of patients. Second and third line therapy are based respectively on immunosuppressive drugs and anti-TNFα drugs. Sarcoidosis mortality and morbidity are mainly linked to advanced pulmonary sarcoidosis - lung fibrosis, pulmonary hypertension, bronchial stenosis and chronic pulmonary aspergillosis. "Non anti-inflammatory" treatments have to be considered as well. Clinicians have an essential role in treatment indication, end-point targets and evaluation of response to treatment during follow-up and in finding the best benefice to risk balance. Progress made on pharmacogenetics may offer more personalized treatments for the patients. PMID:26897112

  14. Clinical and Immunological Features of Common Variable Immunodeficiency in China

    PubMed Central

    Lin, Lian-Jun; Wang, Yu-Chuan; Liu, Xin-Min

    2015-01-01

    Background: Common variable immunodeficiency (CVID) is one of the most common symptomatic primary immunodeficiency syndromes. The purpose of this article was to broaden our knowledge about CVID for better diagnosis and treatment. Methods: Clinical and immunological features of 40 Chinese patients with CVID were analyzed retrospectively. Results: The median age at onset was 11-year-old (range 4–51 years). The median age at diagnosis was 14.5-year-old (range 5–66 years). The average time of delay in diagnosis was 5.3 years (range 1–41 years). The most common main complaint was fever due to infections (35 cases, 87.5%). Pneumonia (28 cases, 70%) was the most common type of infections. Bronchiectasis was present in 6 patients (15%). Autoimmune disease was detected in 6 cases of CVID, and malignancy in 2 cases. The median total serum levels of IgG, IgA, and IgM at diagnosis were 1.07 g/L, 0.07 g/L, and 0.28 g/L, respectively. The percentages of CD3−/CD10+ B-cells were 1%–3.14%. Conclusions: Infection is the most frequent presentation of CVID. Patients with unexplainable infections should receive further examination including serum immunoglobulin (Ig) and lymphocyte subset analysis. Regular and sufficient substitution with Ig is recommended. PMID:25635425

  15. Multi-task feature selection via supervised canonical graph matching for diagnosis of autism spectrum disorder

    PubMed Central

    Wang, Liye; Wee, Chong-Yaw; Tang, Xiaoying; Yap, Pew-Thian

    2016-01-01

    In this paper, we propose a novel framework for ASD diagnosis using structural magnetic resonance imaging (MRI). Our method deals explicitly with the distributional differences of gray matter (GM) and white matter (WM) features extracted from MR images. We project linearly the GM and WM features onto a canonical space where their correlations are mutually maximized. In this canonical space, features that are highly correlated with the class labels are selected for ASD diagnosis. In addition, graph matching is employed to preserve the geometrical relationships between samples when projected onto the canonical space. Our evaluations based on a public ASD dataset show that the proposed method outperforms all competing methods on all clinically important measures in differentiating ASD patients from healthy individuals. PMID:25761828

  16. Clinical and Echographic Features of Retinochoroidal and Optic Nerve Colobomas

    PubMed Central

    Venincasa, Vincent D.; Modi, Yasha S.; Aziz, Hassan A.; Ayres, Bernadette; Zehetner, Claus; Shi, Wei; Murray, Timothy G.; Flynn, Harry W.; Berrocal, Audina M.

    2015-01-01

    Purpose. We reported the clinical and echographic features of colobomas, prevalence of retinal detachment, and associated visual acuity in these patients Methods. The study is a nonrandomized consecutive case series of 140 colobomatous eyes in 98 patients (age range, 0–83 years). Coloboma depth, width, volume, and relative coloboma excavation (coloboma depth/axial length) were measured using standardized echographic images. The presence of structural and other ocular abnormalities was noted. The clinical and echographic findings present were correlated with visual acuity of the patient. In addition, these features were correlated with the presence or absence of retinal detachment. Results. Increased relative coloboma excavation was significantly associated with an increased risk of retinal detachment. A relative coloboma excavation (ratio of coloboma depth to axial length) greater than 0.15 was associated with an increased risk of retinal detachment (52%), compared to those with a relative coloboma excavation less than 0.15 (23%, P = 0.014). The presence of any structural abnormality and the presence of a retrobulbar cyst were associated with increased risk of retinal detachment and severe visual impairment (worse than 20/200). Increased coloboma depth, width, volume, and relative coloboma excavation were not associated with increased risk of severe visual impairment. Conclusions. Clinical and echographic features of colobomas may be used in predicting the risk of retinal detachment. Measuring relative coloboma excavation upon presentation may alter follow-up and assist in the diagnosis of retinal detachment. PMID:26047048

  17. Cardiovascular Magnetic Resonance Myocardial Feature Tracking: Concepts and Clinical Applications.

    PubMed

    Schuster, Andreas; Hor, Kan N; Kowallick, Johannes T; Beerbaum, Philipp; Kutty, Shelby

    2016-04-01

    Heart failure-induced cardiovascular morbidity and mortality constitute a major health problem worldwide and result from diverse pathogeneses, including coronary artery disease, nonischemic cardiomyopathies, and arrhythmias. Assessment of cardiovascular performance is important for early diagnosis and accurate management of patients at risk of heart failure. During the past decade, cardiovascular magnetic resonance myocardial feature tracking has emerged as a useful tool for the quantitative evaluation of cardiovascular function. The method allows quantification of biatrial and biventricular mechanics from measures of deformation: strain, torsion, and dyssynchrony. The purpose of this article is to review the basic principles, clinical applications, accuracy, and reproducibility of cardiovascular magnetic resonance myocardial feature tracking, highlighting the prognostic implications. It will also provide an outlook on how this field might evolve in the future. PMID:27009468

  18. Hybrid facial image feature extraction and recognition for non-invasive chronic fatigue syndrome diagnosis.

    PubMed

    Chen, Yunhua; Liu, Weijian; Zhang, Ling; Yan, Mingyu; Zeng, Yanjun

    2015-09-01

    Due to an absence of reliable biochemical markers, the diagnosis of chronic fatigue syndrome (CFS) mainly relies on the clinical symptoms, and the experience and skill of the doctors currently. To improve objectivity and reduce work intensity, a hybrid facial feature is proposed. First, several kinds of appearance features are identified in different facial regions according to clinical observations of traditional Chinese medicine experts, including vertical striped wrinkles on the forehead, puffiness of the lower eyelid, the skin colour of the cheeks, nose and lips, and the shape of the mouth corner. Afterwards, such features are extracted and systematically combined to form a hybrid feature. We divide the face into several regions based on twelve active appearance model (AAM) feature points, and ten straight lines across them. Then, Gabor wavelet filtering, CIELab color components, threshold-based segmentation and curve fitting are applied to extract features, and Gabor features are reduced by a manifold preserving projection method. Finally, an AdaBoost based score level fusion of multi-modal features is performed after classification of each feature. Despite that the subjects involved in this trial are exclusively Chinese, the method achieves an average accuracy of 89.04% on the training set and 88.32% on the testing set based on the K-fold cross-validation. In addition, the method also possesses desirable sensitivity and specificity on CFS prediction. PMID:26117650

  19. [The epidemiological and clinical features of 208 patients with trichinosis].

    PubMed

    Wang, Z; Cui, J; Jin, X

    1996-06-01

    In order to know the epidemiological and clinical features of trichinosis, the data of 208 patients with trichinosis from 1992 to 1994 were analysed. The results showed that these patients came from 11 districts, and acquired the infection mainly by tasting the raw pork filling for dumplings or ingesting instant-boiled pork or mutton. The incidence of trichinosis is high in winter. Young and middle-aged workers and cadres constituted the majority of the patients and the infection was more common in the males than in females. The main clinical manifestations of trichinosis were prolonged fever, general myalgia, muscle weekness and eosinophilia. Most of the patients had no gastrointestinal symptoms and skin eruption. Eyelid edema was only seen in the early stage. Serological tests were significant value in the diagnosis of trichinosis. The key measures to prevent trichinosis were that meat inspection should be strictly carried out and bad eating habit changed. PMID:9387626

  20. Streptococcal necrotising fasciitis: comparison between histological and clinical features.

    PubMed Central

    Barker, F G; Leppard, B J; Seal, D V

    1987-01-01

    Nineteen acute and 17 subacute cases of necrotising fasciitis due to beta haemolytic streptococci are described. Excised tissue from seven and four cases, respectively, was available for histological examination. The two clinical types showed remarkable similarities, with inflammation and necrosis from epidermis to subcutaneous fat. Haemorrhage was present in variable amounts in both types. Gram positive cocci were not always identified in tissue, nor cultured, when serological tests were required to confirm the diagnosis. The only apparent difference between the acute and subacute type was the higher incidence of thrombi in some blood vessels of acute cases, whereas patent vessels or recanalized thrombus were usually found in subacute cases. This quantitative difference in the degree of thrombosis may alone be responsible for the varying clinical features and response to antibiotics. Images Fig 2 Fig 3 Fig 4a Fig 4b Fig 1 PMID:3558868

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

    PubMed

    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

  2. Surface osteosarcoma: Clinical features and therapeutic implications

    PubMed Central

    Nouri, H.; Ben Maitigue, M.; Abid, L.; Nouri, N.; Abdelkader, A.; Bouaziz, M.; Mestiri, M.

    2015-01-01

    Introduction Surface osteosarcoma are rare variant of osteosarcoma that include parosteal osteosarcoma, periosteal osteosarcoma and high grade surface osteosarcoma. These lesions have different clinical presentation and biological behavior compared to conventional osteosarcoma, and hence need to be managed differently. Goal The aim of this study is to analyze the clinico-pathological features and outcome of a series of surface osteosarcoma in an attempt to define the adequate treatment of this rare entity. Patient and method It is a retrospective and bicentric study of 18 surface osteosarcoma that were seen at the KASSAB’s Institute and SAHLOUL Hospital from 2006 to 2013. The authors reviewed the clinical and radiologic features, histologic sections, treatments, and outcomes in this group of patients. Results Seven patients were male (38.9%) and 11 were female (61.1%) with mean age of 25 years (range from 16 to 55 years). Eleven lesions were in the femur and 7 in the tibia. We identified 11 parosteal osteosarcoma (six of them were dedifferentiated), 3 periosteal osteosarcoma and 4 high grade surface osteosarcoma. Six patients had neoadjuvant chemotherapy and all lesions had surgical resection. Margins were wide in 15 cases and intra lesional in 3 cases. Histological response to chemotherapy was poor in all cases. The mean follow up was 34.5 months. Six patients (33.3%) presented local recurrence and 8 patients (44.4%) presented lung metastases. Six patients (33.3%) died from the disease after a mean follow up of 12 months (6–30 months); all of them had high grade lesions. Conclusion Histological grade of malignancy is the main point to assess in surface osteosarcoma since it determines treatment and prognosis. Low grade lesions should be treated by wide resection, while high grade lesions need more aggressive surgical approach associated to post operative chemotherapy. PMID:26730360

  3. Subchorionic hemorrhage: sonographic diagnosis and clinical significance.

    PubMed

    Abu-Yousef, M M; Bleicher, J J; Williamson, R A; Weiner, C P

    1987-10-01

    Twenty-one pregnancies with sonographic evidence of subchorionic hemorrhage were evaluated clinically and sonographically. Clinical evaluation included maternal age, gravidity, parity, gestational age, presence of pain, presence and amount of bleeding, and pregnancy outcome. Sonographic evaluation included the relative and absolute size of the hematoma, its echogenicity and location in relation to the placenta, the presence of marginal placental abruption, and progress on follow-up examinations. The outcome of these pregnancies was unfavorable in 15 cases (71%) and correlated well with the relative and absolute size of the hematoma, severity of vaginal bleeding, change in hematoma size on follow-up examination, and presence of pain. There was no significant correlation between the outcome and the echogenicity of the hematoma, presence of placental margin elevation, gestational and maternal age, gravidity, or parity. All hematomas extended to the margin of the placenta. Subchorionic hemorrhage is a frequent cause of first and second trimester bleeding and has a grave prognosis. Familiarity with the varied sonographic appearances and meticulous sonographic examination with special attention to the placental margins can be helpful in the diagnosis. PMID:3307354

  4. Primary ciliary dyskinesia: cytological and clinical features.

    PubMed

    Greenstone, M; Rutman, A; Dewar, A; Mackay, I; Cole, P J

    1988-05-01

    Thirty patients with functional and/or morphological abnormalities of respiratory tract cilia were identified. The diagnosis of primary ciliary dyskinesia was based on observed abnormalities of ciliary ultrastructure or beating in vitro (beat pattern, beat frequency or percentage of motile cilia). Beat frequency and motility indices approached the normal range in some cases and suggests that the term 'immotile cilia syndrome' is not appropriate. Morphological abnormalities were most commonly due to deficiency of dynein arms, affecting the outer arms (n = 7), inner arms (n = 3) or both (n = 10). Examples of radial spoke and microtubular defects were also identified but in seven subjects ciliary ultrastructure was normal. In six patients paired samples of nasal and bronchial cilia were obtained and showed consistent abnormalities of motility and ultrastructure. Adenosine triphosphate and adenosine triphosphatase did not restore in vitro motility when added to dynein deficient cilia. The clinical picture was of life-long sinusitis and recurrent bronchial infection but the spectrum was broader than that encompassed by Kartagener's triad (dextrocardia, sinusitis and bronchiectasis). Fourteen patients had normal cardiac situs and definite or highly suggestive evidence of bronchiectasis was present in only 17 patients. Radiological evidence of sinusitis was common but absence of frontal sinuses was not universal. Chronic serous otitis media was a frequent finding but deafness was rarely profound. Fertility problems were common but were not universal in female subjects. Lung function testing revealed evidence of airflow obstruction but this was mild in most cases. PMID:2975807

  5. Abdominal Wall Endometrioma: Ultrasonographic Features and Correlation with Clinical Findings

    PubMed Central

    Solak, Aynur; Genç, Berhan; Yalaz, Seyhan; Şahin, Neslin; Sezer, Taylan Özgür; Solak, İlhami

    2013-01-01

    Background: The diagnosis of abdominal wall endometrioma (AWE) is often confused with other surgical conditions. Certain factors relating to knowledge of the clinical history of the disease make correct diagnosis and treatment difficult. Aims: To present the clinical findings and ultrasonographic (US) features of AWE with special emphasis on size-related features. Study Design: This study reviewed abdominal wall endometriomas during a 2-year period in the Radiology Department of Sifa University Hospital, Izmir. Methods: Eleven women (mean age 32.6 years) with 12 scar endometriomas (mean diameter 29.2 mm) were consecutively evaluated by US and Colour Doppler examination (CDUS) prior to surgery. Lesions were grouped into large (≥3 cm) and small nodules. Vascularisation was classified as location (central, peripheral and mixed) and severity (absent, moderately vascular and hypervascular). In each patient, the nature of pain (absent, cyclic: associated with menstruation and continuous), historical and clinical data were documented. Four patients underwent Magnetic Resonance Imaging and their findings were presented. Fisher’s exact test, χ2 test for categorical data and the unpaired T-test for continuous variables were used for statistical analysis. Results: In all the women, US of the AWE showed the presence of a solid hypoechoic mass (less echogenic than the surrounding hyperechoic fat) within the abdominal wall. There was a significant correlation between AWE sizes with repeated caesareans and the mean time between the last operation and admission to hospital (p<0.05). Large endometriomas showed increased central vascularity (p<0.05). Cyclic pain was more frequent in small lesions, whereas continuous pain was more commonly found in patients with larger lesions (p<0.05). Conclusion: AWE is often misdiagnosed clinically because endometriosis may occur years after the caesarean section, the pain is often non-cyclic in nature, and there is not always a palpable

  6. Congenital cytomegalovirus infection: Clinical presentation, epidemiology, diagnosis and prevention

    PubMed Central

    van Zuylen, Wendy J; Hamilton, Stuart T; Naing, Zin; Hall, Beverly; Shand, Antonia

    2014-01-01

    Cytomegalovirus is the most common congenital infection causing serious disease in infants. It is the leading infectious cause of sensorineural hearing loss and neurodevelopmental disability in developed countries. Despite the clinical importance of congenital cytomegalovirus, surveys show there is limited awareness and knowledge in the medical and general community about congenital cytomegalovirus infection. This article reviews the clinical features, global epidemiology, transmission and risk factors for cytomegalovirus infections. It also highlights several major advances made in recent years in the diagnosis and prevention of cytomegalovirus infection during pregnancy. Although research is ongoing, no therapy is currently proven to prevent or treat maternal, fetal or neonatal cytomegalovirus infection. Education of women regarding hygiene measures can help prevent cytomegalovirus infection and are currently the best strategy to prevent congenital cytomegalovirus disease.

  7. [Sarcoptic mange of dogs: biology of the organism, epidemiology, pathogenesis, clinical aspect, diagnosis and treatment].

    PubMed

    Kraiss, A; Kraft, W; Gothe, R

    1987-01-01

    A review is presented on the biology of the causative agent, epidemiology, pathogenesis, clinical features, diagnosis and therapy of canine Sarcoptes scabiei infestation. This survey includes also clinical data of the period 1978-1986 in the Small Animal Hospital, Munich Veterinary Faculty. Several skin scrapings are usually necessary for diagnosis. For therapy application of acaricides once a week, altogether at least three times is sufficient. Simultaneously a decontamination of the dog's surroundings should be carried out. PMID:3122363

  8. Consistency Rates of Clinical Diagnosis and Histopathological Reports of Oral Lesions: A Retrospective Study

    PubMed Central

    Fattahi, Shirin; Vosoughhosseini, Sepideh; Moradzadeh Khiavi, Monir; Mostafazadeh, Samira; Gheisar, Azhdar

    2014-01-01

    Background and aims. A correct diagnosis is the most important step in the treatment of oral lesions and each oral lesion has specific clinical features that provide clinical diagnosis; however, some of these features are common among different lesions. In these situations, biopsy and histopathological examination are indicated. The aim of this study was to evaluate the relationship between clinical and histopathological diagnosis of patients referred to the Department of Oral Pathology, Tabriz Faculty of Dentistry, from 2009 to 2011. Materials and methods. In this retrospective study, individual data and clinical findings of 311 patients who had been referred to the Department of Oral Pathology during a three-year period were collected through questionnaires and compared with histopathological reports. Data were analyzed by using chi-squared and Fisher's tests. Results. In 80.7% of the cases the clinical diagnosis of the lesions was consistent with pathology reports. In 19.3% of the cases, the clinical diagnosis of the lesions was not confirmed histopathologically. The greatest consistency was observed for lichen planus (100%) and inflammatory fibrous hyperplasia (epulis fissuratum) (94.3%). Conclusion. Although great consistency rates were observed in this study between clinical diagnoses and pathology reports, there was also a significant disagreement with the literature, indicating that comprehensive clinical examination, high consistency with oral lesion features and effective cooperation between surgeons and pathologists are necessary. PMID:25093056

  9. Clostridium difficile: clinical disease and diagnosis.

    PubMed Central

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

    1993-01-01

    Clostridium difficile is an opportunistic pathogen that causes a spectrum of disease ranging from antibiotic-associated diarrhea to pseudomembranous colitis. Although the disease was first described in 1893, the etiologic agent was not isolated and identified until 1978. Since clinical and pathological features of C. difficile-associated disease are not easily distinguished from those of other gastrointestinal diseases, including ulcerative colitis, chronic inflammatory bowel disease, and Crohn's disease, diagnostic methods have relied on either isolation and identification of the microorganism or direct detection of bacterial antigens or toxins in stool specimens. The current review focuses on the sensitivity, specificity, and practical use of several diagnostic tests, including methods for culture of the etiologic agent, cellular cytotoxicity assays, latex agglutination tests, enzyme immunoassay systems, counterimmunoelectrophoresis, fluorescent-antibody assays, and polymerase chain reactions. PMID:8358706

  10. Spinal Cord in Multiple Sclerosis: Magnetic Resonance Imaging Features and Differential Diagnosis.

    PubMed

    Rovira, Alex; Auger, Cristina

    2016-10-01

    Multiple sclerosis (MS) is an idiopathic inflammatory disorder of the central nervous system that affects not only the brain but also the spinal cord. In the diagnostic and monitoring process of MS, spinal cord magnetic resonance imaging (MRI) is not performed as commonly as brain MRI, mainly because of certain technical difficulties and the increase in total acquisition time. Nonetheless, spinal cord MRI findings are important to establish a prompt accurate diagnosis of MS, impart prognostic information, and provide valuable data for monitoring the disease course in certain cases. In this article, we discuss the technical aspects of spinal cord MRI, the typical MRI features of the spinal cord in MS, the clinical indications for this examination, and the differential diagnosis with other disorders that may produce similar clinical or MRI findings. PMID:27616313

  11. Sclerosing Cholangitis: Clinicopathologic Features, Imaging Spectrum, and Systemic Approach to Differential Diagnosis

    PubMed Central

    Seo, Nieun; Lee, Seung Soo; Byun, Jae Ho; Kim, Jin Hee; Kim, Hyoung Jung; Lee, Moon-Gyu

    2016-01-01

    Sclerosing cholangitis is a spectrum of chronic progressive cholestatic liver disease characterized by inflammation, fibrosis, and stricture of the bile ducts, which can be classified as primary and secondary sclerosing cholangitis. Primary sclerosing cholangitis is a chronic progressive liver disease of unknown cause. On the other hand, secondary sclerosing cholangitis has identifiable causes that include immunoglobulin G4-related sclerosing disease, recurrent pyogenic cholangitis, ischemic cholangitis, acquired immunodeficiency syndrome-related cholangitis, and eosinophilic cholangitis. In this review, we suggest a systemic approach to the differential diagnosis of sclerosing cholangitis based on the clinical and laboratory findings, as well as the typical imaging features on computed tomography and magnetic resonance (MR) imaging with MR cholangiography. Familiarity with various etiologies of sclerosing cholangitis and awareness of their typical clinical and imaging findings are essential for an accurate diagnosis and appropriate management. PMID:26798213

  12. Clinical and neurophysiological features of tick paralysis.

    PubMed

    Grattan-Smith, P J; Morris, J G; Johnston, H M; Yiannikas, C; Malik, R; Russell, R; Ouvrier, R A

    1997-11-01

    The clinical and neurophysiological findings in six Australian children with generalized tick paralysis are described. Paralysis is usually caused by the mature female of the species Ixodes holocyclus. It most frequently occurs in the spring and summer months but can be seen at any time of year. Children aged 1-5 years are most commonly affected. The tick is usually found in the scalp, often behind the ear. The typical presentation is a prodrome followed by the development of an unsteady gait, and then ascending, symmetrical, flaccid paralysis. Early cranial nerve involvement is a feature, particularly the presence of both internal and external ophthalmoplegia. In contrast to the experience with North American ticks, worsening of paralysis in the 24-48 h following tick removal is common and the child must be carefully observed over this period. Death from respiratory failure was relatively common in the first half of the century and tick paralysis remains a potentially fatal condition. Respiratory support may be required for > 1 week but full recovery occurs. This is slow with several weeks passing before the child can walk unaided. Anti-toxin has a role in the treatment of seriously ill children but there is a high incidence of acute allergy and serum sickness. Neurophysiological studies reveal low-amplitude compound muscle action potentials with normal motor conduction velocities, normal sensory studies and normal response to repetitive stimulation. The biochemical structure of the toxin of I. holocyclus has not been fully characterized but there are many clinical, neurophysiological and experimental similarities to botulinum toxin. PMID:9397015

  13. Brain SPECT quantitation in clinical diagnosis

    SciTech Connect

    Hellman, R.S.

    1991-12-31

    Methods to quantitate SPECT data for clinical diagnosis should be chosen so that they take advantage of the lessons learned from PET data. This is particularly important because current SPECT high-resolution brain imaging systems now produce images that are similar in resolution to those generated by the last generation PET equipment (9 mm FWHM). These high-resolution SPECT systems make quantitation of SPECT more problematic than earlier. Methodology validated on low-resolution SPECT systems may no longer be valid for data obtained with the newer SPECT systems. For example, in patients with dementia, the ratio of parietal to cerebellar activity often was studied. However, with new instruments, the cerebellum appears very different: discrete regions are more apparent. The large cerebellar regions usually used with older instrumentation are of an inappropriate size for the new equipment. The normal range for any method of quantitation determined using older equipment probably changes for data obtained with new equipment. It is not surprising that Kim et al. in their simulations demonstrated that because of the finite resolution of imaging systems, the ability to measure pure function is limited, with {open_quotes}anatomy{close_quotes} and {open_quotes}function{close_quotes} coupled in a {open_quotes}complex nonlinear way{close_quotes}. 11 refs.

  14. Urgent discectomy: Clinical features and neurological outcome

    PubMed Central

    Albert, Ruth; Lange, Max; Brawanski, Alexander; Schebesch, Karl-Michael

    2016-01-01

    Background: To evaluate the clinical features and outcome of patients with progressive neurological deficits due to disc herniation who were treated surgically within 24 h. Methods: We conducted a retrospective analysis of consecutive patients who were admitted between 2004 and 2013 via the Emergency Department. Records were screened for presenting symptoms, neurological status at admission, discharge, and 6-week follow-up. Results: About 72 of 526 patients underwent surgery within 24 h. Magnetic resonance imaging showed lumbar disc herniation in 72 patients. The most common presenting symptoms included radiculopathy (n = 69), the Lasègue sign (n = 60), sensory deficits (n = 57), or motor deficits (n = 47). In addition, 11 patients experienced perineal numbness and 12 had bowel and bladder dysfunction. At discharge, motor and sensory deficits and bowel and bladder dysfunction had improved significantly (P < 0.001, P = 0.029, and P = 0.015, respectively). Conclusion: Motor deficits, sensory deficits, and cauda equina dysfunction were significantly improved immediately after urgent surgery. After 6 weeks, motor and sensory deficits were also significantly improved compared to the neurological status at discharge. Thus, we advocate immediate surgery of disc herniation in patients with acute onset of motor deficits, perineal numbness, or bladder or bowel dysfunction indicative of cauda equina syndrome. PMID:26958423

  15. Hypertrophic cardiomyopathy in infants: clinical features and natural history

    SciTech Connect

    Maron, B.J.; Tajik, A.J.; Ruttenberg, H.D.; Graham, T.P.; Atwood, G.F.; Victorica, B.E.; Lie, J.T.; Roberts, W.C.

    1982-01-01

    The clinical and morphologic features of hypertrophic cardiomyopathy in 20 patients recognized as having cardiac disease in the first year of life are described. Fourteen of these 20 infants were initially suspected of having heart disease solely because a heart murmur was identified. However, the infants showed a variety of clinical findings, including signs of marked congestive heart failure (in the presence of nondilated ventricular cavities and normal or increased left ventricular contractility) and substantial cardiac enlargement on chest radiograph. Other findings were markedly different from those usually present in older children and adults with hypertrophic cardiomyopathy (e.g., right ventricular hypertrophy on the ECG and cyanosis). Consequently, in 14 infants, the initial clinical diagnosis was congenital cardiac malformation other than hypertrophic cardiomyopathy. The clinical course was variable in these patients, but the onset of marked congestive heart failure in the first year of life appeared to be an unfavorable prognostic sign; nine of the 11 infants with congestive heart failure died within the first year of life. In infants with hypertrophic cardiomyopathy, unlike older children and adults with this condition, sudden death was less common (two patients) than death due to progressive congestive heart failure.

  16. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment.

    PubMed

    Rosencrantz, Richard; Schilsky, Michael

    2011-08-01

    Nearly a century after Dr. Samuel Alexander Kinnier Wilson composed his doctoral thesis on the pathologic findings of "lenticular degeneration" in the brain associated with cirrhosis of the liver we know that the underlying molecular basis for this autosomal recessive inherited disorder that now bears his name is mutation of a copper transporting ATPase, ATP7B, an intracellular copper transporter mainly expressed in hepatocytes. Loss of ATP7B function is the basis for reduced hepatic biliary copper excretion and reduced incorporation of copper into ceruloplasmin. During the intervening years, there was recognition of the clinical signs, histologic, biochemical features, and mutation analysis of ATP7B that characterize and enable diagnosis of this disorder. These include the presence of signs of liver or neurologic disease and detection of Kayser-Fleischer rings, low ceruloplasmin, elevated urine and hepatic copper, and associated histologic changes in the liver. Medical therapies and liver transplantation can effectively treat patients with this once uniformly fatal disorder. The earlier detection of the disease led to the initiation of treatment to prevent disease progression and reverse pathologic findings if present, and family screening to detect the disorder in first-degree relatives is warranted. Gene therapy and hepatocyte cell transplantation for Wilson disease has only been tested in animal models but represent future areas for study. Despite all the advances we still have to consider the diagnosis of Wilson disease to test patients for this disorder and properly establish the diagnosis before committing to life-long treatment. PMID:21901655

  17. Clinical features of allergic rhinitis in children of Shanghai, China.

    PubMed

    He, S; Li, Y J; Chen, J

    2016-01-01

    The aims of the current study were to assess the clinical features of allergic rhinitis (AR) in children in Shanghai. Serum-specific IgE (sIgE) tests were performed on samples from patients with AR symptoms from January 2011 to December 2014. A disease-related questionnaire was completed after AR diagnosis. The allergen profile and clinical features of AR were analyzed. In total, 2713 AR patients were enrolled in this study. Dermatophagoides pteronyssinus was found to be the most common offending allergen in the study population. With increasing age, the prevalence of sIgE against inhalant allergens was significantly increased; however, the opposite trend was observed for food allergens. Additionally, the proportion of children with high levels of sIgE against D. pteronyssinus increased with age. Of the AR cases, 8.6% were classified as intermittent mild, 4.2% as persistent mild, 40.5% as intermittent moderate-severe, and 46.7% as persistent moderate-severe. A family history of allergies and a patient history of allergies within 6 months of birth were significantly associated with the duration and severity of AR symptoms. The occurrence of co-morbidities, such as allergic conjunctivitis, cough, and asthma, gradually increased from intermittent mild, persistent mild, and intermittent moderate-severe to persistent moderate-severe. The most frequently used drugs were topical corticosteroids and oral antihistamines, which were used by 86.7 and 79.0% of patients, respectively. These results confirm the adequacy of the Allergic Rhinitis and its Impact on Asthma (ARIA) guidelines for classifying AR patients, and advance the understanding of clinical features of AR in children in Shanghai, China. PMID:27173334

  18. Clinical and microbiologic features of dacryocystitis-related orbital cellulitis.

    PubMed

    Wladis, Edward J; Shinder, Roman; LeFebvre, Daniel R; Sokol, Jason A; Boyce, Michelle

    2016-10-01

    Dacryocystitis-related orbital cellulitis is a relatively rare condition, and large case series of this clinical entity have been reported. This study was undertaken to identify a larger cohort of patients with this ailment, with the intent of defining its clinical and microbiologic features. Case logs from four institutions were reviewed to identify patients that suffered from dacryocystitis-related orbital cellulitis. A retrospective chart review was then performed to identify clinical features, management strategies, microbiologic features, and outcomes. A dedicated statistical software package was utilized to identify correlations between these variables. 13 patients (7 females, 6 males; mean age = 57.2 years, range = 7-89 years) were identified. One patient carried a diagnosis of immunosuppressive disease. All patients underwent emergent surgical drainage and received intravenous antibiotics. Primary acquired nasolacrimal duct obstruction was found to be the underlying etiology in nine cases (69.2%), whereas four patients suffered from specific causes of their obstructions. An average of 1.07 organisms/patient (standard deviation = 0.49 organisms/patient) were recovered from microbiologic cultures, and Gram-positive bacteria represented the majority of cultured organisms. All patients experienced either stable or improved vision upon discharge. The relationships between a specific etiology and the possibility of vision loss or the number of organisms cultured, between the number of organisms cultured and vision loss, and immunosuppression and vision loss or the number of organisms cultured were all not statistically significant (p > 0.05). Dacryocystitis-related orbital cellulitis most commonly occurs in adult patients who do not carry immunosuppressive diagnoses and suffer from primary obstructions. Multiple microbiologic species may cause this problem, although Gram-positive organisms are most common. With appropriate management, stable or improved vision

  19. Hairy cell leukemia: clinical features and therapeutic advances.

    PubMed

    Lembersky, B C; Golomb, H M

    1987-01-01

    Hairy cell leukemia (HCL) is a rare chronic lymphoproliferative disorder which has been extensively studied over the past decade. Much has been learned regarding the diagnosis, natural history, biology, and treatment of this unique neoplasm. The disease most commonly affects middle aged men and characteristic clinical features include splenomegaly, cytopenias, and usually the presence in the peripheral blood of distinctive 'hairy cells' with irregular cytoplasmic projections. Diagnosis can usually be confirmed by bone marrow biopsy. Although the natural history can be extremely variable among patients, complications are usually referable to the cytopenias, with anemia and infection being most frequent. In addition to pyogenic infections, patients are susceptible to unusual organisms including atypical mycobacterium, legionella, and fungi. The requirement of red blood cell transfusion, severe granulocytopenia or thrombocytopenia, frequent infections, or painful splenomegaly are all indications for treatment. Splenectomy is the standard initial treatment of choice. However, in the past few years there have been exciting major advances in the therapeutic modalities for HCL. Recombinant alpha-interferon is highly effective, with beneficial responses occurring in close to 90% of patients. The Food and Drug Administration has recently approved the use of interferon for HCL. This represents the first time a biological response modifier has been approved for the treatment of human disease. In addition, preliminary results with the adenosine deaminase inhibitor, 2'deoxycoformycin (dcf), have been encouraging. Further clinical trials are required in order to determine the optimal sequential treatment strategy for HCL. The exact mechanisms of action of both interferon and dcf in HCL remain to be elucidated. A better understanding of the unusual features of the hairy cell and the underlying biological effect of these two agents in HCL may have important applications in other

  20. Canonical feature selection for joint regression and multi-class identification in Alzheimer's disease diagnosis.

    PubMed

    Zhu, Xiaofeng; Suk, Heung-Il; Lee, Seong-Whan; Shen, Dinggang

    2016-09-01

    Fusing information from different imaging modalities is crucial for more accurate identification of the brain state because imaging data of different modalities can provide complementary perspectives on the complex nature of brain disorders. However, most existing fusion methods often extract features independently from each modality, and then simply concatenate them into a long vector for classification, without appropriate consideration of the correlation among modalities. In this paper, we propose a novel method to transform the original features from different modalities to a common space, where the transformed features become comparable and easy to find their relation, by canonical correlation analysis. We then perform the sparse multi-task learning for discriminative feature selection by using the canonical features as regressors and penalizing a loss function with a canonical regularizer. In our experiments on the Alzheimer's Disease Neuroimaging Initiative (ADNI) dataset, we use Magnetic Resonance Imaging (MRI) and Positron Emission Tomography (PET) images to jointly predict clinical scores of Alzheimer's Disease Assessment Scale-Cognitive subscale (ADAS-Cog) and Mini-Mental State Examination (MMSE) and also identify multi-class disease status for Alzheimer's disease diagnosis. The experimental results showed that the proposed canonical feature selection method helped enhance the performance of both clinical score prediction and disease status identification, outperforming the state-of-the-art methods. PMID:26254746

  1. Dental Pulp: Correspondences and Contradictions between Clinical and Histological Diagnosis

    PubMed Central

    Giuroiu, Cristian Levente; Căruntu, Irina-Draga; Lozneanu, Ludmila; Melian, Anca; Vataman, Maria; Andrian, Sorin

    2015-01-01

    Dental pulp represents a specialized connective tissue enclosed by dentin and enamel, the most highly mineralized tissues of the body. Consequently, the direct examination as well as pathological evaluation of dental pulp is difficult. Within this anatomical context, our study aimed to evaluate the correlation between dental pulp lesions and clinical diagnosis. Pulpectomies were performed for 54 patients with acute and chronic irreversible pulpitides and for 5 patients (control group) with orthodontic extractions. The morphological features were semiquantitatively assessed by specific score values. The clinical and morphological correspondence was noted for 35 cases (68.62%), whereas inconsistency was recorded for 16 cases (31.38%). The results of the statistical analysis revealed the correlations between clinically and pathologically diagnosed acute/chronic pulpitides. No significant differences were established between the score values for inflammatory infiltrate intensity, collagen depositions, calcifications and necrosis, and acute, respectively chronic pulpitides. We also obtained significant differences between acute pulpitides and inflammatory infiltrate and calcifications and between chronic pulpitides and inflammatory infiltrate, collagen deposition, and calcifications. On the basis of the predominant pathological aspects, namely, acute and chronic pulpitis, we consider that the classification schemes can be simplified by adequately reducing the number of clinical entities. PMID:26078972

  2. Identifying Potential Clinical Syndromes of Hepatocellular Carcinoma Using PSO-Based Hierarchical Feature Selection Algorithm

    PubMed Central

    Ji, Zhiwei; Wang, Bing

    2014-01-01

    Hepatocellular carcinoma (HCC) is one of the most common malignant tumors. Clinical symptoms attributable to HCC are usually absent, thus often miss the best therapeutic opportunities. Traditional Chinese Medicine (TCM) plays an active role in diagnosis and treatment of HCC. In this paper, we proposed a particle swarm optimization-based hierarchical feature selection (PSOHFS) model to infer potential syndromes for diagnosis of HCC. Firstly, the hierarchical feature representation is developed by a three-layer tree. The clinical symptoms and positive score of patient are leaf nodes and root in the tree, respectively, while each syndrome feature on the middle layer is extracted from a group of symptoms. Secondly, an improved PSO-based algorithm is applied in a new reduced feature space to search an optimal syndrome subset. Based on the result of feature selection, the causal relationships of symptoms and syndromes are inferred via Bayesian networks. In our experiment, 147 symptoms were aggregated into 27 groups and 27 syndrome features were extracted. The proposed approach discovered 24 syndromes which obviously improved the diagnosis accuracy. Finally, the Bayesian approach was applied to represent the causal relationships both at symptom and syndrome levels. The results show that our computational model can facilitate the clinical diagnosis of HCC. PMID:24745007

  3. Computer-aided diagnosis in CT colonography: detection of polyps based on geometric and texture features

    NASA Astrophysics Data System (ADS)

    Yoshida, Hiroyuki; Naeppi, Janne J.; Frimmel, Hans; Dachman, Abraham H.

    2002-05-01

    A computer-aided diagnosis scheme for the detection of colonic polyps in CT colonography has been developed, and its performance has been assessed based on clinical cases with colonoscopy-confirmed polyps. In the scheme, the colon was automatically segmented by use of knowledge-guided segmentation from 3-dimensional isotropic volumes reconstructed from axial CT slices in CT colonography. Polyp candidates are detected by first computing of 3-dimensional geometric features that characterize polyps, and then segmenting of connected components corresponding to suspicious regions by hysteresis thresholding and fuzzy clustering based on these geometric features. False-positive detections are reduced by computation of 3-dimensional texture features characterizing the internal structures of the polyp candidates, followed by application of discriminant analysis to the feature space generated by the geometric and texture features. We applied our scheme to 43 CT colonographic cases with cleansed colon, including 12 polyps larger than 5 mm. In a by-dataset analysis, the CAD scheme yielded a sensitivity of 95% with 1.2 false positives per data set. The false negative was one of the two polyps in a single patient. Consequently, in by-patient analysis, our method yielded 100% sensitivity with 2.0 false positives per patient. The results indicate that our CAD scheme has the potential to detect clinically important polyp cases with a high sensitivity and a relatively low false-positive rate.

  4. Clinical and diagnostic features of patients with suspected Klinefelter syndrome.

    PubMed

    Kamischke, Axel; Baumgardt, Arthur; Horst, Jürgen; Nieschlag, Eberhard

    2003-01-01

    Klinefelter syndrome, with an incidence of 1:600 male newborns, is the most frequent form of male hypogonadism. However, despite its relatively high frequency, the syndrome is often overlooked. To prevent such oversights, the clinical features should be better characterized, and simple screening tests should be used more frequently. In a cohort of 309 patients suspected of having Klinefelter syndrome, we evaluated the clinical symptoms as well as the diagnostic value of the Barr body test for screening procedures. On the basis of chromosome analysis, 85 patients (group I) were diagnosed as having Klinefelter syndrome, and 224 patients had a 46,XY karyotype (group II). Barr body analysis revealed a specificity of 95% and a sensitivity of 82% for the diagnosis of Klinefelter syndrome. General features (eg, reason for admission, age, age of the parents, body weight, and frequency of maldescended testes) were not different between the groups, except that group I had a higher proportion of patients with a lower educational background. Compared to group II, patients with Klinefelter syndrome were taller (P <.001); had smaller testis volumes (P <.0001), higher follicle-stimulating hormone (FSH) and luteinizing hormone (LH) values; and carried a tendency for less androgenic phenotype and secondary hair distribution. Testosterone, estradiol, sex hormone-binding globulin (SHBG), and prostate-specific antigen (PSA) serum levels as well as prostate volume were not significantly different between the groups. In patients who provided an ejaculate, azoospermia was found in 54% of the patients in group II and in 93% of the patients with Klinefelter syndrome. Although not exclusively characteristic for Klinefelter syndrome, the combination of low testicular volume and azoospermia, together with elevated gonadotropins, is highly indicative for a Klinefelter syndrome and should stimulate further clinical investigations. Barr body analysis provides a quick and reliable screening test

  5. Co-existence of various clinical and histopathological features of mycosis fungoides in a young female.

    PubMed

    Naeini, Farahnaz Fatemi; Soghrati, Mehrnaz; Abtahi-Naeini, Bahareh; Najafian, Jamshid; Rajabi, Parvin

    2015-01-01

    Mycosis fungoides is the most common type of cutaneous T-cell lymphoma (CTCL) and a rare disorder that typically affects older adults with erythematous scaling patches and plaques. Hypopigmented patches are a rare clinical variant of the disease. Granulomatous mycosis fungoides (GMF) is also a rare type of CTCL. No particular clinical criteria are available for the diagnosis of GMF, because of its variable presentations, and so the detection of GMF is primarily considered as a histopathological diagnosis. Rarely, a co-existence of more than one clinical or histopathological feature of mycosis fungoides may be present. To the best of our knowledge this is the first report of MF that shows the simultaneous co-existence of more than one clinical and histopathological variant of MF. We present a 29-year-old female with clinical presentations of both classic and hypopigmented mycosis fungoides (MF), and also the histopathological features of the classic and granulomatous types of the disease. PMID:25814741

  6. Co-Existence of Various Clinical and Histopathological Features of Mycosis Fungoides in a Young Female

    PubMed Central

    Naeini, Farahnaz Fatemi; Soghrati, Mehrnaz; Abtahi-Naeini, Bahareh; Najafian, Jamshid; Rajabi, Parvin

    2015-01-01

    Mycosis fungoides is the most common type of cutaneous T-cell lymphoma (CTCL) and a rare disorder that typically affects older adults with erythematous scaling patches and plaques. Hypopigmented patches are a rare clinical variant of the disease. Granulomatous mycosis fungoides (GMF) is also a rare type of CTCL. No particular clinical criteria are available for the diagnosis of GMF, because of its variable presentations, and so the detection of GMF is primarily considered as a histopathological diagnosis. Rarely, a co-existence of more than one clinical or histopathological feature of mycosis fungoides may be present. To the best of our knowledge this is the first report of MF that shows the simultaneous co-existence of more than one clinical and histopathological variant of MF. We present a 29-year-old female with clinical presentations of both classic and hypopigmented mycosis fungoides (MF), and also the histopathological features of the classic and granulomatous types of the disease. PMID:25814741

  7. Pulmonary tuberculosis: clinical features and patient management.

    PubMed

    Gough, Andrea; Kaufman, Gerri

    Pulmonary tuberculosis (TB) is a common infectious disease and a major cause of illness and death throughout the world, particularly in developing countries. This article explores the difference between latent TB infection and active TB disease, and discusses the pharmacological management of TB and issues around adherence to medication. Although TB is usually managed by specialist teams it is essential that all practitioners have an understanding of the signs and symptoms of the disease to ensure early referral and accurate diagnosis. PMID:21888103

  8. Dermoscopic and clinical features of head and neck melanoma*

    PubMed Central

    Cengiz, Fatma Pelin; Cengiz, Abdurrahman Bugra; Emiroglu, Nazan; Comert, Ela; Wellenhof, Rainer Hofmann

    2015-01-01

    BACKGROUND The dermoscopic criteria of extrafacial melanomas are well-known. OBJECTIVE To determine the frequency of dermatoscopic findings in head and neck melanomas (HNM) and to assess the distinguishing dermoscopic criteria of facial and extrafacial melanoma. METHODS This observational study included 108 patients with HNM (63% male, mean age 64 years). Participants underwent individual dermoscopic imaging of clinically melanoma. All lesions were excised, and histopathological examination was performed on all specimens. RESULTS Drawing on histopathological analysis, lentigo maligna melanoma or lentigo maligna was diagnosed in 60 lesions, superficial spreading melanoma in 18, nodular in 10, desmoplastic in 8, superficial spreading melanoma in situ in 12. The most frequent location for head and neck melanoma was the cheek (60 patients, 55.6%). Eight prominent dermatoscopic features were observed in facial melanoma: annular-granular pattern (18%); rhomboidal structures (29%); pseudonetwork (29%); asymmetrical, pigmented, follicular openings (51%); obliterated hair follicles (8%); red rhomboidal structures (18%); increased density of the vascular network (32%); scar-like depigmentation (59%). CONCLUSIONS HNM has specific dermoscopic features, and classical extrafacial dermoscopic rules are less useful for diagnosis of facial melanoma. In our study, further characteristic dermatoscopic findings were detected in facial melanoma such as low frequencies of irregular dots, 2 or fewer colors in lesions, the presence of pseudonetwork, increased density of the vascular network, red rhomboidal structures, in addition to dermatoscopic findings of extrafacial melanoma. Thus, it is concluded that the prediction and identification of HNM may be evident with the help of these signs. PMID:26375217

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

    PubMed

    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

  10. Gender effect on clinical features of achalasia: a prospective study

    PubMed Central

    Mikaeli, Javad; Farrokhi, Farnoosh; Bishehsari, Faraz; Mahdavinia, Mahboobeh; Malekzadeh, Reza

    2006-01-01

    Background Achalasia is a well-characterized esophageal motor disorder but the rarity of the disease limits performing large studies on its demographic and clinical features. Methods Prospectively, 213 achalasia patients (110 men and 103 women) were enrolled in the study. The diagnosis established by clinical, radiographic, and endoscopic as well as manometry criteria. All patients underwent a pre-designed clinical evaluation before and within 6 months after the treatment. Results Solid dysphagia was the most common clinical symptom in men and women. Chest pain was the only symptom which was significantly different between two groups and was more complained by women than men (70.9% vs. 54.5% P value= 0.03). Although the occurrence of chest pain significantly reduced after treatment in both groups (P < 0.001), it was still higher among women (32% vs. 20.9% P value= 0.04). In both sexes, chest pain did not relate to the symptom duration, LES pressure and type of treatment patients received. Also no significant relation was found between chest pain and other symptoms expressed by men and women before and after treatment. Chest pain was less frequently reported by patients over 56 yrs of age in comparison to those less than 56 yrs (p < 0.05). Conclusion It seems that chest pain is the distinct symptom of achalasia which is affected by sex as well as age and does not relate to the duration of illness, LESP and the type of treatment achalasia patients receive. PMID:16579859

  11. Syphilis: clinical presentation, diagnosis and treatment.

    PubMed

    Peate, Ian

    Syphilis is a sexually transmitted infection that is increasing in the U.K. If left untreated it can have a number of potentially devastating health-related sequelae. However, effective treatment is available. Nurses working in various healthcare settings should be aware of the signs and symptoms of the infection to make a prompt diagnosis and appropriate referral for treatment. PMID:18069500

  12. Clinical and molecular genetic features of ARC syndrome.

    PubMed

    Gissen, Paul; Tee, Louise; Johnson, Colin A; Genin, Emmanuelle; Caliebe, Almuth; Chitayat, David; Clericuzio, Carol; Denecke, Jonas; Di Rocco, Maja; Fischler, Björn; FitzPatrick, David; García-Cazorla, Angeles; Guyot, Delphine; Jacquemont, Sebastien; Koletzko, Sibylle; Leheup, Bruno; Mandel, Hanna; Sanseverino, Maria Teresa Vieira; Houwen, Roderick H J; McKiernan, Patrick J; Kelly, Deirdre A; Maher, Eamonn R

    2006-10-01

    Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (MIM 208085) is an autosomal recessive multisystem disorder that may be associated with germline VPS33B mutations. VPS33B is involved in regulation of vesicular membrane fusion by interacting with SNARE proteins, and evidence of abnormal polarised membrane protein trafficking has been reported in ARC patients. We characterised clinical and molecular features of ARC syndrome in order to identify potential genotype-phenotype correlations. The clinical phenotype of 62 ARC syndrome patients was analysed. In addition to classical features described previously, all patients had severe failure to thrive, which was not adequately explained by the degree of liver disease and 10% had structural cardiac defects. Almost half of the patients who underwent diagnostic organ biopsy (7/16) developed life-threatening haemorrhage. We found that most patients (9/11) who suffered severe haemorrhage (7 post biopsy and 4 spontaneous) had normal platelet count and morphology. Germline VPS33B mutations were detected in 28/35 families (48/62 individuals) with ARC syndrome. Several mutations were restricted to specific ethnic groups. Thus p.Arg438X mutation was common in the UK Pakistani families and haplotyping was consistent with a founder mutation with the most recent common ancestor 900-1,000 years ago. Heterozygosity was found in the VPS33B locus in some cases of ARC providing the first evidence of a possible second ARC syndrome gene. In conclusion we state that molecular diagnosis is possible for most children in whom ARC syndrome is suspected and VPS33B mutation analysis should replace organ biopsy as a first line diagnostic test for ARC syndrome. PMID:16896922

  13. Factors Associated with Clinical and Topographical Features of Laryngeal Tuberculosis

    PubMed Central

    Reis, João Gustavo Corrêa; Reis, Clarissa Souza Mota; da Costa, Daniel César Silva; Lucena, Márcia Mendonça; Schubach, Armando de Oliveira; Oliveira, Raquel de Vasconcellos Carvalhaes; Rolla, Valéria Cavalcanti; Conceição-Silva, Fátima; Valete-Rosalino, Cláudia Maria

    2016-01-01

    Introduction Laryngeal tuberculosis (LTB) is the most frequent granulomatous disease of the larynx and represents less than 2% of extrapulmonary TB cases. There are no pathognomonic clinical and endoscopic features of this disease and studies on LTB that can assist in its diagnostic characterization are lacking. Objective To identify factors associated with clinical and topographical features of LTB. Method a retrospective cross-sectional study was conducted from the medical records of 36 patients with confirmed LTB diagnosis. Results Dysphonia and cough were the main symptoms presented by patients and the true vocal folds the most frequently affected site. The average of the duration of the disease evolution was significantly higher in patients with dysphonia than in patients without this symptom. We observed association between dysphonia and true vocal fold lesions and between odynophagia and lesions in the epiglottis, arytenoids and aryepiglottic folds. Odynophagia was more frequent in individuals with lesions in four or more laryngeal sites. Weight loss equal or above 10% of the body weight was more frequent in patients with odynophagia as first symptom and in patients with ulcerated lesion. Dyspnea on exertion was more frequent in individuals with more extensive laryngeal lesions. The percentage of smokers with lesions in four or more laryngeal sites was greater than that found in non-smokers. Laryngeal tissue fragment bacilloscopy and culture examinations were less positive than sputum ones. Conclusions Smoking appears to be associated with the development of more extensive LTB lesions, and LTB with dyspnea on exertion and odynophagia with consequent impairment of nutritional status. We emphasize the need for histopathologic confirmation, once positive sputum bacteriological examinations seem not to necessarily reflect laryngeal involvement. PMID:27077734

  14. Clinical features of allergic bronchopulmonary aspergillosis in Korea.

    PubMed

    Kim, Joo-Hee; Jin, Hyun Jung; Nam, Young-Hee; Hwang, Eui-Kyung; Ye, Young-Min; Park, Hae-Sim

    2012-09-01

    Allergic bronchopulmonary aspergillosis (ABPA) is a complex disease, triggered by a hypersensitivity reaction to the allergen Aspergillus fumigatus. This disease occurs frequently in patients with cystic fibrosis and severe asthma in Western countries, with a prevalence of 2%-15%. However, there have been only a few case reports in Korea. We investigated the clinical and immunological features of patients with ABPA. Ten adult patients diagnosed with ABPA, according to Greenberger's criteria, were analyzed during the period January 2001 to December 2010 in a tertiary hospital. Skin-prick tests, pulmonary function tests, and high-resolution computed tomography (HRCT) were performed, and total serum IgE and A. fumigatus-specific IgE were measured. The patient cohort consisted of men who were middle-aged (median, 62.5; range, 19.0-79.0 years) at the diagnosis of ABPA with a long duration of asthma (median, 15.0; range, 1-48 years). Approximately 40% of the patients had a history of pulmonary tuberculosis more than 10 years prior to the study (median 23.5; range, 10.0-31.0 years) accompanied by severe obstructive lung function and radiological post-tuberculous destructive lung lesions. These patients also tended to have increased levels of immunologic parameters, such as total eosinophil count, total IgE, and A. fumigates-specific IgE, compared to those without tuberculosis sequels. Two patients with steroid-dependent asthma were treated with anti-IgE therapy and showed good responses. We report the clinical features of 10 ABPA patients, including 4 with histories of post-tuberculosis destructive lesions. Furthermore, anti-IgE antibody therapy may be an alternative strategy in cases of steroid-dependent ABPA. PMID:22950037

  15. Newly Described Clinical and Immunopathological Feature of Dermatitis Herpetiformis

    PubMed Central

    Bonciolini, Veronica; Bonciani, Diletta; Verdelli, Alice; D'Errico, Antonietta; Antiga, Emiliano; Fabbri, Paolo; Caproni, Marzia

    2012-01-01

    Dermatitis herpetiformis (DH) is an inflammatory cutaneous disease with typical histopathological and immunopathological findings clinically characterized by intensely pruritic polymorphic lesions with a chronic-relapsing course. In addition to classic clinical manifestations of DH, atypical variants are more and more frequently reported and histological and immunological are added to them, whereas the impact on quality of life of patients with DH is increasingly important to a certain diagnosis. The aim of this paper is to describe all the possible clinical, histological, and immunological variants of DH in order to facilitate the diagnosis of a rare disease and, therefore, little known. PMID:22701503

  16. Combination of 3D skin surface texture features and 2D ABCD features for improved melanoma diagnosis.

    PubMed

    Ding, Yi; John, Nigel W; Smith, Lyndon; Sun, Jiuai; Smith, Melvyn

    2015-10-01

    Two-dimensional asymmetry, border irregularity, colour variegation and diameter (ABCD) features are important indicators currently used for computer-assisted diagnosis of malignant melanoma (MM); however, they often prove to be insufficient to make a convincing diagnosis. Previous work has demonstrated that 3D skin surface normal features in the form of tilt and slant pattern disruptions are promising new features independent from the existing 2D ABCD features. This work investigates that whether improved lesion classification can be achieved by combining the 3D features with the 2D ABCD features. Experiments using a nonlinear support vector machine classifier show that many combinations of the 2D ABCD features and the 3D features can give substantially better classification accuracy than using (1) single features and (2) many combinations of the 2D ABCD features. The best 2D and 3D feature combination includes the overall 3D skin surface disruption, the asymmetry and all the three colour channel features. It gives an overall 87.8 % successful classification, which is better than the best single feature with 78.0 % and the best 2D feature combination with 83.1 %. These demonstrate that (1) the 3D features have additive values to improve the existing lesion classification and (2) combining the 3D feature with all the 2D features does not lead to the best lesion classification. The two ABCD features not selected by the best 2D and 3D combination, namely (1) the border feature and (2) the diameter feature, were also studied in separate experiments. It found that inclusion of either feature in the 2D and 3D combination can successfully classify 3 out of 4 lesion groups. The only one group not accurately classified by either feature can be classified satisfactorily by the other. In both cases, they have shown better classification performances than those without the 3D feature in the combinations. This further demonstrates that (1) the 3D feature can be used to

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

    PubMed

    Mattar, Rejane; de Campos Mazo, Daniel Ferraz; Carrilho, Flair José

    2012-01-01

    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. PMID:22826639

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

    PubMed Central

    Mattar, Rejane; de Campos Mazo, Daniel Ferraz; Carrilho, Flair José

    2012-01-01

    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. PMID:22826639

  19. Diagnosis of Placental Abruption: Relationship between Clinical and Histopathological Findings

    PubMed Central

    Elsasser, Denise A.; Ananth, Cande V.; Prasad, Vinay; Vintzileos, Anthony M.

    2009-01-01

    Objective We evaluated the extent to which histologic lesions bearing a diagnosis of abruption conform to a diagnosis based on established clinical criteria. We further examined the profile of chronic and acute histologic lesions associated with clinical abruption. Methods Data from the New Jersey-Placental Abruption Study – a multi-center, case-control study – were utilized to compare the clinical and histologic criteria for abruption. The study was based on 162 women with clinically diagnosed abruption and 173 controls. We examined the concordance between clinical indicators for abruption with those of a histopathological diagnosis. The clinical criteria for a diagnosis of abruption included (i) evidence of retroplacental clot(s); (ii) abruption diagnosed on prenatal ultrasound; or (iii) vaginal bleeding accompanied by nonreassuring fetal status or uterine hypertonicity. The pathological criteria for abruption diagnosis included hematoma, fibrin deposition, compressed villi, and hemosiderin-laden histiocytes in cases with older hematomas. Acute lesions included chorioamnionitis, funisitis, acute deciduitis, meconium stained membranes, villous stromal hemorrhage, and villous edema. Chronic lesions included chronic deciduitis, decidual necrosis, decidual vasculopathy, placental infarctions, villous maldevelopment (delayed or accelerated maturation), hemosiderin deposition, intervillous thrombus, and chronic villitis. Results Of clinically diagnosed cases, the sensitivity and specificity for a histologic confirmation of abruption were 30.2% and 100%, respectively. Presence of retroplacental clots remained the single most common finding (77.1%) among clinically diagnosed cases. Among the acute lesions, chorioamnionitis and funisitis were associated with abruption. The only chronic histologic lesion associated with abruption was placental infarctions. Conclusions The concordance between clinical and pathologic criteria for abruption diagnosis is poor. The criteria

  20. Clinical features of measles in immunocompromised children.

    PubMed

    Nakano, T; Shimono, Y; Sugiyama, K; Nishihara, H; Higashigawa, M; Komada, Y; Ito, M; Sakurai, M; Yoshida, A; Kitamura, K; Ihara, T; Kamiya, H; Hamazaki, M; Sata, T

    1996-06-01

    Measles is often fatal for immunocompromised hosts. Protective immunity against measles has been studied but is still not completely understood. Recently, five cases of measles were encountered in immunocompromised children. Two of these were allogeneic bone marrow transplanted cases (one common variable immunodeficiency and one severe aplastic anemia) in remission, one Wilms' tumor case in remission, one hepatoblastoma case after cytotoxic therapy at disease onset and one exaggerating hemophagocytic syndrome case with suppressed natural killer cell activity. Clinical symptoms, laboratory findings and the immunologic backgrounds of these five patients were investigated. One of the patients, an 8 year old boy with hemophagocytic syndrome, died of giant cell pneumonia which was confirmed in the section of necropsy lung specimen. Two other patients who received allogeneic bone marrow transplants were not immune to measles, despite their own and their donors' immunizations. Their clinical symptoms were rather severe but both patients recovered and have remained seropositive for as long as 13 months. This fatality from measles is the first reported in a patient with hemophagocytic syndrome. Suppressed natural killer cell activity may be a poor prognostic factor. Also, secondary immunization failure for measles can occur in bone marrow transplanted patients with rather severe clinical symptoms. PMID:8741308

  1. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

    PubMed Central

    Leventer, Richard J.; van der Knaap, Marjo S.; van Hove, Johan; Pizzino, Amy; McNeill, Nathan H.; Helman, Guy; Simons, Cas; Schmidt, Johanna L.; Rizzo, William B.

    2015-01-01

    Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) imaging (MRI) has dramatically improved and systematized the diagnosis of LDs and gLEs, and in combination with specific clinical features, such as Addison's disease in Adrenoleukodystrophy or hypodontia in Pol-III related or 4H leukodystrophy, can often resolve a case with a minimum of testing. The diagnostic odyssey for the majority LD and gLE patients, however, remains extensive – many patients will wait nearly a decade for a definitive diagnosis and at least half will remain unresolved. The combination of MRI, careful clinical evaluation and next generation genetic sequencing holds promise for both expediting the diagnostic process and dramatically reducing the number of unresolved cases. Here we present a workflow detailing the Global Leukodystrophy Initiative (GLIA) consensus recommendations for an approach to clinical diagnosis, including salient clinical features suggesting a specific diagnosis, neuroim-aging features and molecular genetic testing. We also discuss recommendations on the use of broad-spectrum next-generation sequencing in instances of ambiguous MRI or clinical findings. We conclude with a proposal for systematic trials of genome-wide agnostic testing as a first line diagnostic in LDs and gLEs given the increasing number of genes associated with these disorders. PMID:25655951

  2. Metabolic myopathies: clinical features and diagnostic approach.

    PubMed

    Smith, Edward C; El-Gharbawy, Areeg; Koeberl, Dwight D

    2011-05-01

    The rheumatologist is frequently called on to evaluate patients with complaints of myalgia, muscle cramps, and fatigue. The evaluation of these patients presents a diagnostic challenge given the nonspecific and intermittent nature of their complaints, often leading to inappropriate diagnostic testing. When these symptoms are associated with physical exertion, a metabolic myopathy should be suspected Although inflammatory myopathies may present with similar features, such a pattern should prompt a thorough evaluation for an underlying metabolic myopathy. This review discusses the most common causes of metabolic myopathies and reviews the current diagnostic options available to the clinician. PMID:21444020

  3. [Food allergy: definition, diagnosis, epidemiology, clinical aspects].

    PubMed

    Wüthrich, B

    1996-05-01

    Contrary to the lay and media perception, adverse reactions to foods (and food additives) occur less often than believed by the patients. The term food intolerance (FI) is widely misused as a cause of all sorts of symptoms and diseases. This diagnosis is often based on "alternative" techniques. Food allergy (FA) is the correct diagnosis if the symptoms resulting from the ingestion of a food (or an ingredient) are due to an immune mechanism. This diagnosis is seldom difficult in the case of a severe reaction immediately after ingestion of the food and when skin prick tests and/or IgE antibodies to the incriminated food are clearly positive. However, the best way to establish FA/FI is-apart from exclusion from the diet, which tends to have a marked placebo effect-the performance of proper double-blind, placebo-controlled food challenges (DBPCFC). Evidently, there are difficulties in conducting studies of this nature in a large population sample, and so far only three prevalence studies in Dutch and English adults have been based on DBPCFC. The reported prevalences of FA/FI (questionnaire answers) were 12% to 19%, whereas the confirmed prevalences varied from 0.8% to 2.4%. For additive intolerance the prevalence varied between 0.01 to 0.23%. The consequences of mistaken perception of FA/FI, which can have a major social impact in financial and health terms, require an information campaign for doctors, lay and media in connection with these problems. PMID:8693302

  4. Cortical auditory disorders: clinical and psychoacoustic features.

    PubMed Central

    Mendez, M F; Geehan, G R

    1988-01-01

    The symptoms of two patients with bilateral cortical auditory lesions evolved from cortical deafness to other auditory syndromes: generalised auditory agnosia, amusia and/or pure word deafness, and a residual impairment of temporal sequencing. On investigation, both had dysacusis, absent middle latency evoked responses, acoustic errors in sound recognition and matching, inconsistent auditory behaviours, and similarly disturbed psychoacoustic discrimination tasks. These findings indicate that the different clinical syndromes caused by cortical auditory lesions form a spectrum of related auditory processing disorders. Differences between syndromes may depend on the degree of involvement of a primary cortical processing system, the more diffuse accessory system, and possibly the efferent auditory system. Images PMID:2450968

  5. Benign Occipital Epilepsies of Childhood: Clinical Features and Genetics

    ERIC Educational Resources Information Center

    Taylor, Isabella; Berkovic, Samuel F.; Kivity, Sara; Scheffer, Ingrid E.

    2008-01-01

    The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. Our aim was to explore the clinical features, classification and clinical genetics of these syndromes using twin and multiplex family studies to determine whether…

  6. [Clinical importance and diagnosis of halitosis].

    PubMed

    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

  7. Opportunistic invasive fungal infections: diagnosis & clinical management

    PubMed Central

    Badiee, Parisa; Hashemizadeh, Zahra

    2014-01-01

    Invasive fungal infections are a significant health problem in immunocompromised patients. The clinical manifestations vary and can range from colonization in allergic bronchopulmonary disease to active infection in local aetiologic agents. Many factors influence the virulence and pathogenic capacity of the microorganisms, such as enzymes including extracellular phospholipases, lipases and proteinases, dimorphic growth in some Candida species, melanin production, mannitol secretion, superoxide dismutase, rapid growth and affinity to the blood stream, heat tolerance and toxin production. Infection is confirmed when histopathologic examination with special stains demonstrates fungal tissue involvement or when the aetiologic agent is isolated from sterile clinical specimens by culture. Both acquired and congenital immunodeficiency may be associated with increased susceptibility to systemic infections. Fungal infection is difficult to treat because antifungal therapy for Candida infections is still controversial and based on clinical grounds, and for molds, the clinician must assume that the species isolated from the culture medium is the pathogen. Timely initiation of antifungal treatment is a critical component affecting the outcome. Disseminated infection requires the use of systemic agents with or without surgical debridement, and in some cases immunotherapy is also advisable. Preclinical and clinical studies have shown an association between drug dose and treatment outcome. Drug dose monitoring is necessary to ensure that therapeutic levels are achieved for optimal clinical efficacy. The objectives of this review are to discuss opportunistic fungal infections, diagnostic methods and the management of these infections. PMID:24718393

  8. Antenatal diagnosis of chorioangioma of the placenta: MR features

    SciTech Connect

    Mochizuki, Takao; Imai, Michiko; Isoda, Haruo

    1996-05-01

    We report a case of chorioangioma of the placenta, in which MR findings were useful in establishing the antenatal diagnosis. Polyhydramnios and a placental tumor that was 5 cm in size were visualized. The tumor had relatively high signal intensities on proton density imaging and T2-weighted imaging and showed partially high intensity signal rims on T1-weighted imaging, especially when using a breath-holding technique. Magnetic resonance imaging has an important role in detection and diagnosis of these lesions, particularly the larger tumors, so that appropriate steps can be taken to deal with the complications that may accompany this tumor. 27 refs., 4 figs.

  9. Appendicitis associated with intestinal malrotation: imaging diagnosis features. Case report.

    PubMed

    Badea, Radu; Al Hajjar, Nadim; Andreica, Vasile; Procopeţ, Bogdan; Caraiani, Cosmin; Tamas-Szora, Attila

    2012-06-01

    Intestinal malrotation is a rare pathological situation consisting of non-rotation or incomplete rotation of the primitive intestine. Due to the abnormal caecal position inflicted by malrotation, diagnosis of acute appendicitis is difficult. Ultrasonography (US) and Computed Tomography (CT) are relevant and complementary imaging techniques for establishing an otherwise elusive diagnosis. We present the case of 54 year old male presenting with nonspecific abdominal complaints in which US (standard and contrast enhanced) and CT scans identified acute appendicitis associated with malrotated caecum and ascending colon, located in the left hipocondrum. PMID:22675720

  10. Clinical features of multiple epiphyseal dysplasia expressed in the knee.

    PubMed

    Miura, H; Noguchi, Y; Mitsuyasu, H; Nagamine, R; Urabe, K; Matsuda, S; Iwamoto, Y

    2000-11-01

    The purpose of this study is to clarify the clinical features of the knee affected by multiple epiphyseal dysplasia. Thirty-one cases of multiple epiphyseal dysplasia were reviewed. Of the patients, 11 were male and 20 were female. The average age at onset of symptoms was 22.5 years. The average age at initial visit to the authors' hospital was 28.9 years. Radiographic findings showed epiphyseal abnormality of the knee in all but two (93%) cases. Irregularity, segmentation of the epiphysis, widening of the joint space, and genu valgum deformity were the dominant findings before epiphyseal closure. After epiphyseal closure, the most characteristic finding was a shallow femoral trochlear groove, which was observed in 56.5% of the cases. Other findings in adult patients included early onset osteoarthritic change, genu valgum, depression of the lateral tibial plateau, and multiple free bodies. However, there still is a possibility that multiple epiphyseal dysplasia exists, even if the patient lacks a shallow femoral trochlear groove. If genu valgum or varum, free bodies, and premature osteoarthritis are observed, one should evaluate other joints, keeping a diagnosis of multiple epiphyseal dysplasia in mind. Patients with knees that have a femoral trochlear groove of normal or near normal shape do exist, and premature osteoarthritic changes may develop in such patients. PMID:11064990

  11. Clinical features of isolated dissections of abdominal aortic branches.

    PubMed

    Naganuma, Michio; Matsui, Hiroki; Fushimi, Kiyohide; Yasunaga, Hideo

    2016-06-01

    Isolated dissection of an abdominal aortic branch is a rare entity, and previous reports regarding the condition have been based only on small case-series studies. Using a national inpatient database in Japan, we describe the clinical features of patients with isolated celiac, superior mesenteric, splenic, and hepatic artery dissections (ICAD, ISMAD, ISAD, and IHAD). We extracted data on inpatients who were diagnosed with ICAD, ISMAD, ISAD, or IHAD from the Japanese diagnosis procedure combination database, including patients' age and sex, putative risk factors (smoking status and specific comorbidities), treatments (blood transfusion, transcatheter arterial embolization (TAE) and surgical procedures), and outcomes (in-hospital complications and death). Among 18.3 million inpatients in the database between July 2010 and March 2013, we identified 276 ICAD, 715 ISMAD, 23 ISAD and 11 IHAD. The percentage of males was 78-92 %, and the mean age was 54.7-56.8 years. Hypertension was seen in 48-65, and 35-65 % were smokers. Fourteen in-hospital deaths were identified in total. In the ICAD group, splenectomy was performed in one patient and TAE was performed in 26 patients. In the ISMAD group, 16 patients received surgical intervention. Most patients with isolated dissection of an abdominal aortic branch were treated conservatively, while a small percentage required TAE or open surgery. A small proportion of dissections resulted in death. PMID:25421008

  12. Epilepsy in hypothalamic hamartoma: clinical and EEG features.

    PubMed

    Harvey, A Simon; Freeman, Jeremy L

    2007-06-01

    Hypothalamic hamartoma (HH) is a congenital malformation of the hypothalamus that may be asymptomatic or manifest with precocious puberty or seizures. Gelastic seizures often begin early in life, even in the newborn period, being manifest by frequent attacks of inappropriate laughter resulting from seizure activity in the HH. The scalp electroencephalogram (EEG) is often normal in children with gelastic seizures, such that the diagnosis of epilepsy and the finding of a HH are often delayed. In a proportion of children with HH, there is an epileptic progression, in which complex partial seizures with frontal, temporal, and lateralized clinical features appear, usually with the appearance of focal slowing and epileptiform activity on the interictal EEG. Further progression may ensue with the appearance of tonic or atonic drop attacks, generalized tonic-clonic seizures, and epileptic spasms; rarely, infantile spasms may be the presenting seizure type. With the appearance of generalized seizures, the interictal EEG shows bilaterally synchronous and generalized epileptiform activity, often in abundance. The mechanism of this evolution is incompletely understood but neocortical seizure propagation and secondary epileptogenesis are believed to be important. Paralleling the development of the focal and generalized electroclinical manifestations in children with HH is usually slowing of development and the appearance of behavioral problems. Fortunately, many of these neurologic manifestations can be arrested, or reversed, with effective surgical treatment directed at the HH. PMID:17544948

  13. Clinical features of Eosinophilic esophagitis in children and adults.

    PubMed

    Miehlke, Stephan

    2015-10-01

    Eosinophilic esophagitis (EoE) may affect humans at any age with a predominance for Caucasian males. The clinical manifestation of EoE varies depending on the patient's age. Infants and young children may primarily present with unspecific symptoms such as feeding problems, vomiting and abdominal pain. In adolescents and adults, dysphagia and food impactation become the predominant symptoms. EoE should also be considered in cases of refractory heartburn in both children and adults. Concomitant allergic diseases such as asthma, rhinitis and eczema, as well as peripheral eosinophilia and elevated total serum IgE values are common in pediatric and adult EoE patients. EoE seems to be primarily a food antigen-driven disease, whereas in adults, aeroallergen sensitization may dominate. Endoscopic features of EoE include mucosal edema, furrows, exudates, corrugated rings, strictures, and the so-called crepe paper sign. There appears to be a shift from an inflammatory-predominant phenotype in young childhood towards a more fibrotic phenotype in adolescents and adults. Long-term follow studies suggest that EoE is a chronic and potentially progressive disease causing recurring dysphagia in the majority of cases. The prevalence of strictures significantly increases with the duration of untreated disease, stressing the importance of early diagnosis and consequent treatment of EoE. PMID:26552773

  14. Amebic liver abscess: epidemiology, clinical features, and outcome.

    PubMed Central

    Seeto, R K; Rockey, D C

    1999-01-01

    Amebic liver abscess (ALA) is a serious, but readily treatable form of hepatic infection. In order to understand the clinical features of this condition in the United States, we reviewed the medical histories of 56 patients with ALA at two large San Francisco Hospitals from 1979 to 1994. Patients were divided into the following groups based on the presumed manner in which they had acquired ALA: those born or raised in the United States, with a history of travel to an endemic area (Tr-ALA); those from an endemic area, but living in the United States for less than one year (En-ALA); and those neither from nor having traveled to an endemic area (N-ALA). We found distinct clinical patterns in patients from different epidemiological groups. Patients with Tr-ALA were a decade older than those from endemic regions, were more likely to be male, and tended to have an insidious onset. Furthermore, compared to patients with En-ALA, those with Tr-ALA were more likely to have hepatomegaly (P < 0.0001) and large abscesses (ALA > 10 cm; P < 0.01). One third of the patients studied had no associated travel history or endemic origin as risk factors. Of these, 63% had a condition consistent with severe immunosuppression, such as infection with the human immunodeficiency virus (HIV), malnourishment with severe hypoalbuminemia, or chronic infection. In patients with N-ALA, the presence of a presumed immunosuppressed state increased significantly, as compared to patients with endemic or travel risk factors for ALA. During the last five years of the study, one third of all patients diagnosed with ALA were HIV positive (including 2 with a new diagnosis of AIDS), many of whom were discovered to be HIV-infected only after presentation with ALA. We conclude that travel to and origin in an endemic area are important risk factors for the development of ALA, and patients in these different epidemiological groups appear to have distinct clinical features. Further, in the absence of recognized

  15. Clinical features and pathophysiology of belching disorders.

    PubMed

    Sun, Xiaomin; Ke, Meiyun; Wang, Zhifeng

    2015-01-01

    The symptomatic characteristics and psychosocial factors of belching were analyzed through questionnaire, and the pathophysiology of belch was studied with the combined methods of high-resolution manometry and impedance (HRM-IMP). 21 consecutively-enrolled patients with repeated belching, were conducted a questionnaire survey, and the data were analyzed with Pearson correlation analysis and exact propability method. 10 patients were performed HRM-IMP. 20 patients met the diagnostic criteria of belch, among who 17 cases had overlapped symptoms, and the functional dyspepsia was the most common, followed by gastroesophageal reflux disease; 16 patients experienced mental stimulation or negative events; 12 cases existed anxiety and (or) depression; 8 cases had neurotic personality. The number of the overlapped symptoms was associated with the anxiety status, while the belch severity had nothing to do with the anxiety/depression status. Among the 10 patients who accepted HRM-IMP, 9 existed the esophageal motility dysfunction, and 9 had supra-gastric belching. Belch had a variety of clinical manifestations, related to the mood changes and the environmental stress, and normally was combined with the abnormalities of psychology and personality traits. The belch patients normally experienced the esophageal motility disorders, among which the typical pattern was supra-gastric belching. PMID:26885161

  16. LEOPARD Syndrome: Clinical Features and Gene Mutations

    PubMed Central

    Martínez-Quintana, E.; Rodríguez-González, F.

    2012-01-01

    The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Though it is not included in the acronym, hypertrophic cardiomyopathy is the most frequent cardiac anomaly observed, representing a potentially life-threatening problem in these patients. PTPN11, RAF1 and BRAF are the genes known to be associated with LS, identifying molecular genetic testing of the 3 gene mutations in about 95% of affected individuals. PTPN11 mutations are the most frequently found. Eleven different missense PTPN11 mutations (Tyr279Cys/Ser, Ala461Thr, Gly464Ala, Thr468Met/Pro, Arg498Trp/Leu, Gln506Pro, and Gln510Glu/Pro) have been reported so far in LS, 2 of which (Tyr279Cys and Thr468Met) occur in about 65% of the cases. Here, we provide an overview of clinical aspects of this disorder, the molecular mechanisms underlying pathogenesis and major genotype-phenotype correlations. PMID:23239957

  17. Functional foods: salient features and clinical applications.

    PubMed

    Riezzo, Giuseppe; Chiloiro, Marisa; Russo, Francesco

    2005-09-01

    The term "functional food" refers to foods or ingredients of foods providing an additional physiological benefit beyond their basic nutritional needs. Health benefits are best obtained through a varied diet containing fruits, vegetables, grains, legumes and seeds. However, fortified foods and dietary supplements have been marketed and food industry have made functional food one of their current leading trends. Recently, the number of functional foods that have a potential benefit on health has hugely grown and scientific evidence is supporting the role of functional foods in prevention and treatment of several diseases. Cancer, diabetes, heart disease and hypertension are the most important diseases that can be treated or prevented by functional foods; other diseases are osteoporosis, abnormal bowel motility, and arthritis. It has been estimated that 80% of cancer in USA have a nutrition/diet component suggesting a great impact of functional food and foods components on incidence and treatment of cancer. Numerous factors complicate the evaluation of scientific evidence such as the complexity of food substance, effect on food, metabolic changes associated to dietary changes, the lack of biological markers of disease development. This paper reviews the scientific evidence supporting this area regarding only those foods and ingredients in which a clear experimental and clinical evidence exists for their chemopreventive and therapeutic effects. PMID:16178793

  18. Clinical features and pathophysiology of belching disorders

    PubMed Central

    Sun, Xiaomin; Ke, Meiyun; Wang, Zhifeng

    2015-01-01

    The symptomatic characteristics and psychosocial factors of belching were analyzed through questionnaire, and the pathophysiology of belch was studied with the combined methods of high-resolution manometry and impedance (HRM-IMP). 21 consecutively-enrolled patients with repeated belching, were conducted a questionnaire survey, and the data were analyzed with Pearson correlation analysis and exact propability method. 10 patients were performed HRM-IMP. 20 patients met the diagnostic criteria of belch, among who 17 cases had overlapped symptoms, and the functional dyspepsia was the most common, followed by gastroesophageal reflux disease; 16 patients experienced mental stimulation or negative events; 12 cases existed anxiety and (or) depression; 8 cases had neurotic personality. The number of the overlapped symptoms was associated with the anxiety status, while the belch severity had nothing to do with the anxiety/depression status. Among the 10 patients who accepted HRM-IMP, 9 existed the esophageal motility dysfunction, and 9 had supra-gastric belching. Belch had a variety of clinical manifestations, related to the mood changes and the environmental stress, and normally was combined with the abnormalities of psychology and personality traits. The belch patients normally experienced the esophageal motility disorders, among which the typical pattern was supra-gastric belching. PMID:26885161

  19. Pediatric multiple sclerosis: Clinical features and outcome.

    PubMed

    Waldman, Amy; Ness, Jayne; Pohl, Daniela; Simone, Isabella Laura; Anlar, Banu; Amato, Maria Pia; Ghezzi, Angelo

    2016-08-30

    Multiple sclerosis (MS) in children manifests with a relapsing-remitting MS (RRMS) disease course. Acute relapses consist of new neurologic deficits persisting greater than 24 hours, in the absence of intercurrent illness, and occur with a higher frequency early in the disease as compared to adult-onset RRMS. Most pediatric patients with MS recover well from these early relapses, and cumulative physical disability is rare in the first 10 years of disease. Brainstem attacks, poor recovery from a single attack, and a higher frequency of attacks portend a greater likelihood of future disability. Although prospective pediatric-onset MS cohorts have been established in recent years, there remains very limited prospective data detailing the longer-term clinical outcome of pediatric-onset MS into adulthood. Whether the advent of MS therapies, and the largely off-label access to such therapies in pediatric MS, has improved prognosis is unknown. MS onset during the key formative academic years, concurrent with active cognitive maturation, is an important determinant of long-term outcome, and is discussed in detail in another article in this supplement. Finally, increasing recognition of pediatric MS worldwide, recent launch of phase III trials for new agents in the pediatric MS population, and the clear imperative to more fully appreciate health-related quality of life in pediatric MS through adulthood highlight the need for standardized, validated, and robust outcome measures. PMID:27572865

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

    PubMed

    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. PMID:25453460

  1. [Clinical presentation and diagnosis of epileptic auras].

    PubMed

    Barletova, E I; Kremenchugskaia, M R; Mukhin, K Iu; Glukhova, L Iu; Mironov, M B

    2012-01-01

    To define clinical presentations of visual auras and to reveal their clinical, encephalographic and neuroimaging correlates, we examined 23 patients, aged from 5 to 25 years (mean 14±6 years), with focal forms of epilepsy. Patients had visual auras regardless of the etiology of epilepsy which developed immediately before epileptic seizures or were isolated. Patients had simple or complex visual hallucinations, the former occurring more frequently, visual illusions and ictal amaurosis. Positive visual phenomena were noted more frequently than negative ones. In most of the patients, visual hallucinations were associated with the pathological activity in cortical occipital regions of the brain and, in some cases, in temporal and parietal regions. The different pathologies (developmental defects, post-ischemic, atrophic and other disturbances) identified by MRI were found in a half of patients. PMID:23120768

  2. Clinical Features of Newly Diagnosed Cytomegalovirus Retinitis in Northern Thailand

    PubMed Central

    Ausayakhun, Somsanguan; Keenan, Jeremy D; Ausayakhun, Sakarin; Jirawison, Choeng; Khouri, Claire M; Skalet, Alison H; Heiden, David; Holland, Gary N; Margolis, Todd P

    2011-01-01

    Purpose To characterize the clinical manifestations of cytomegalovirus (CMV) retinitis in northern Thailand. Design Prospective, observational cross-sectional study. Methods We recorded characteristics of 52 consecutive patients newly diagnosed with CMV retinitis at a tertiary university-based medical center in northern Thailand. Indirect ophthalmoscopy by experienced ophthalmologists was supplemented with fundus photography to determine the proportion of eyes with various clinical features of CMV retinitis. Results Of the 52 patients with CMV retinitis, 55.8% were female. All were HIV-positive. The vast majority (90.4%) had started antiretroviral therapy. CMV retinitis was bilateral in 46.2% of patients. Bilateral visual acuity worse than 20/60 was observed in 23.1% of patients. Of 76 eyes with CMV retinitis, 61.8% had zone I disease and 21.6% had lesions involving the fovea. Lesions larger than 25% of the retinal area were observed in 57.5% of affected eyes. CMV retinitis lesions commonly had marked or severe border opacity (47.4% of eyes). Vitreous haze was often present (46.1% of eyes). Visual impairment was more common in eyes with larger retinitis lesions. Retinitis lesion size, used as a proxy for duration of disease, was associated with fulminant appearance (OR 1.24 [1.01 – 1.51]), and marked or severe border opacity (OR 1.36 [1.11 – 1.67]). Based on lesion size, retinitis preceded antiretroviral treatment in each patient. Conclusions Patients presenting to a tertiary medical center in northern Thailand have advanced CMV retinitis, possibly due to delayed diagnosis. Earlier screening and treatment of CMV retinitis may limit progression of disease and prevent visual impairment in this population. PMID:22265148

  3. [Clinical features of accessory parotid gland tumors].

    PubMed

    Iguchi, Hiroyoshi; Wada, Tadashi; Yamamoto, Hidefumi; Yamada, Kei; Matsushita, Naoki; Okamoto, Sachimi; Teranishi, Yuichi; Koda, Yuki; Kosugi, Yuki; Yamane, Hideo

    2013-12-01

    Accessory parotid gland tumors are relatively rare; hence, adequately detailed clinical analyses of these tumors are difficult to perform at a single institution. In this report, we describe the findings for 65 patients [29 men, 36 women; median age, 51 (9-81) years] with accessory parotid gland tumors, consisting of 4 cases documented by us and 61 cases previously reported by other Japanese authors. Approximately 50% of the patients were treated in an otolaryngology department, while the remaining patients were treated in plastic surgery, oral surgery, or dermatology departments. In 4 patients, the results of preoperative fine-needle aspiration cytology indicated that the tumor was benign; however, the postoperative histopathology results revealed malignant tumors. The frequencies of malignant and benign tumors were 44.6% (n = 29) and 55.4% (n = 36), respectively. Mucoepidermoid carcinoma and pleomorphic adenoma were the most frequent types of malignant and benign accessory parotid gland tumors, respectively. Among the various surgical methods that were used, such as direct cheek and intraoral incisions, a standard parotidectomy incision was the most preferred treatment approach for these tumors. Recently, an endoscopic approach has also been found to yield satisfactory results. An optimal approach should be selected after evaluating the advantages and disadvantages of these methods. No definite guidelines are available regarding the choice of elective neck dissection and postoperative radiation therapy for malignant accessory parotid gland tumors. Although tumor resection (plus elective neck dissection) and postoperative radiation therapy have been frequently performed for various kinds of malignant accessory parotid gland tumors to date, additional studies are needed regarding the criteria for selecting elective neck dissection and postoperative radiation therapy. Since the malignancy rate for accessory parotid gland tumors is higher than that for parotid gland

  4. Polymicrobial Infective Endocarditis: Clinical Features and Prognosis.

    PubMed

    García-Granja, Pablo Elpidio; López, Javier; Vilacosta, Isidre; Ortiz-Bautista, Carlos; Sevilla, Teresa; Olmos, Carmen; Sarriá, Cristina; Ferrera, Carlos; Gómez, Itziar; Román, José Alberto San

    2015-12-01

    To describe the profile of left-sided polymicrobial endocarditis (PE) and to compare it with monomicrobial endocarditis (ME).Among 1011 episodes of left-sided endocarditis consecutively diagnosed in 3 tertiary centers, between January 1, 1996 and December 31, 2014, 60 were polymicrobial (5.9%), 821 monomicrobial (81.7%), and in 123 no microorganism was detected (12.2%). Seven patients (0.7%) were excluded from the analysis because contamination of biologic tissue could not be discarded. The authors described the clinical, microbiologic, echocardiographic, and outcome of patients with PE and compared it with ME.Mean age was 64 years SD 16 years, 67% were men and 30% nosocomial. Diabetes mellitus (35%) were the most frequent comorbidities, fever (67%) and heart failure (43%) the most common symptoms at admission. Prosthetic valves (50%) were the most frequent infection location and coagulase-negative Staphylococci (48%) and enterococci (37%) the leading etiologies. The most repeated combination was coagulase-negative Staphylococci with enterococci (n = 9). Polymicrobial endocarditis appeared more frequently in patients with underlying disease (70% versus 56%, P = 0.036), mostly diabetics (35% versus 24%, P = 0.044) with previous cardiac surgery (15% versus 8% P = 0.049) and prosthetic valves (50% versus 37%, P = 0.038). Coagulase-negative Staphylococci, enterococci, Gram-negative bacilli, anaerobes, and fungi were more frequent in PE. No differences on age, sex, symptoms, need of surgery, and in-hospital mortality were detected.Polymicrobial endocarditis represents 5.9% of episodes of left-sided endocarditis in our series. Despite relevant demographic and microbiologic differences between PE and ME, short-term outcome is similar. PMID:26656328

  5. Solid organ abdominal ischemia, part I: clinical features, etiology, imaging findings, and management.

    PubMed

    Ricci, Zina J; Oh, Sarah K; Stein, Marjorie W; Kaul, Bindu; Flusberg, Milana; Chernyak, Victoria; Rozenblit, Alla M; Mazzariol, Fernanda A

    2016-01-01

    Solid organ abdominal ischemia commonly presents with acute pain prompting radiologic evaluation and often requires urgent treatment. Despite different risk factors and anatomic differences, most solid organ ischemia is due to arterial or venous occlusion and, less frequently, a low-flow state. Radiologic diagnosis is critical, as clinical presentations are often nonspecific. Contrast-enhanced computed tomography (CT) is the modality of choice (except in adnexal torsion) with magnetic resonance imaging (MRI) useful in equivocal cases or follow-up of ischemic disease. This article will provide a pictorial review of the CT and MRI features of solid abdominal organ ischemia while highlighting key clinical features, etiology, and management. PMID:27317217

  6. Evidenced-based review of clinical studies on endodontic diagnosis.

    PubMed

    2009-08-01

    The practice of endodontics requires excellence in diagnostic skills. The importance of this topic has been underscored by a recent 2008 AAE-sponsored symposium on endodontic diagnosis, which will be highlighted in a special issue of the Journal of Endodontics. In this minireview, we focus on recent clinical studies that emphasize different aspects related to the diagnosis of disorders of the pulp-dentin complex. PMID:19631854

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

    PubMed

    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

  8. Etiology, diagnosis, and clinical management of vulvodynia

    PubMed Central

    Sadownik, Leslie A

    2014-01-01

    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. PMID:24833921

  9. Computer-Based Image Analysis for Plus Disease Diagnosis in Retinopathy of Prematurity: Performance of the “i-ROP” System and Image Features Associated With Expert Diagnosis

    PubMed Central

    Ataer-Cansizoglu, Esra; Bolon-Canedo, Veronica; Campbell, J. Peter; Bozkurt, Alican; Erdogmus, Deniz; Kalpathy-Cramer, Jayashree; Patel, Samir; Jonas, Karyn; Chan, R. V. Paul; Ostmo, Susan; Chiang, Michael F.

    2015-01-01

    Purpose We developed and evaluated the performance of a novel computer-based image analysis system for grading plus disease in retinopathy of prematurity (ROP), and identified the image features, shapes, and sizes that best correlate with expert diagnosis. Methods A dataset of 77 wide-angle retinal images from infants screened for ROP was collected. A reference standard diagnosis was determined for each image by combining image grading from 3 experts with the clinical diagnosis from ophthalmoscopic examination. Manually segmented images were cropped into a range of shapes and sizes, and a computer algorithm was developed to extract tortuosity and dilation features from arteries and veins. Each feature was fed into our system to identify the set of characteristics that yielded the highest-performing system compared to the reference standard, which we refer to as the “i-ROP” system. Results Among the tested crop shapes, sizes, and measured features, point-based measurements of arterial and venous tortuosity (combined), and a large circular cropped image (with radius 6 times the disc diameter), provided the highest diagnostic accuracy. The i-ROP system achieved 95% accuracy for classifying preplus and plus disease compared to the reference standard. This was comparable to the performance of the 3 individual experts (96%, 94%, 92%), and significantly higher than the mean performance of 31 nonexperts (81%). Conclusions This comprehensive analysis of computer-based plus disease suggests that it may be feasible to develop a fully-automated system based on wide-angle retinal images that performs comparably to expert graders at three-level plus disease discrimination. Translational Relevance Computer-based image analysis, using objective and quantitative retinal vascular features, has potential to complement clinical ROP diagnosis by ophthalmologists. PMID:26644965

  10. [Clinical aspects and diagnosis of viral hepatitis].

    PubMed

    Vince, Adriana

    2003-01-01

    Viral hepatitides are common diseases of modern man in both industrialized and developing countries, with a varying prevalence of particular types and mode of transmission. In current medicine, viral hepatitides are classified in the A-E nomenclature, differentiating viruses that can be etiologically defined with certainty on the basis of serum markers and hepatitides exhibiting all clinical and laboratory characteristics of viral hepatitis but of as yet nondemonstrable causative agents, classified in the non-A, non-E hepatitis group. Two issues are of high relevance in the pathogenesis of viral hepatitides: route of transmission (fecal-oral or parenteral) and basic mechanism of hepatocyte lesion. Although all hepatitis viruses replicate within the hepatocyte, the exact mechanism of hepatocyte necrosis has not yet been fully elucidated, i.e. direct cytotoxicity or hepatoprogressive immune response mediated primarily by the specific cytotoxic CD8 lymphocytes. Depending on the site of entry, the virus replicates in the adjacent lymphatic tissue for some time, followed by primary viremia, virus replication in the lymphoreticular organs (lymph nodes, liver, spleen), and eventual entry in the target cells--hepatocytes, accompanied by a varying grade of necrosis and inflammatory reaction. The clinical and laboratory signs of the disease correspond to the degree of liver necrosis and are not specific for particular types of viral hepatitis. The most frequent symptoms common to all types of viral hepatitis of moderate severity include elevated body temperature persisting for days, fatigue, gradual loss of appetite, nausea, dull pain and discomfort on DRL, vomiting, multiple loose stools, dark urine, jaundice of the skin and mucosa, and light stools. Generally, the ultimate outcome of the disease is elimination of the virus and complete recovery, however, a fulminant course with lethal outcome or transition to chronic disease may also occur, making viral hepatitides a major

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

    PubMed

    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

  12. Clinical diagnosis and misdiagnosis of sleep disorders.

    PubMed

    Stores, G

    2007-12-01

    Sleep disorders are common in all sections of the population and are either the main clinical complaint or a frequent complication of many conditions for which patients are seen in primary care or specialist services. However, the subject is poorly covered in medical education. A major consequence is that the manifestations of the many sleep disorders now identified are likely to be misinterpreted as other clinical conditions of a physical or psychological nature, especially neurological or psychiatric disorders. To illustrate this problem, examples are provided of the various possible causes of sleep loss, poor quality sleep, excessive daytime sleepiness and episodes of disturbed behaviour at night (parasomnias). All of these sleep disorders can adversely affect mental state and behaviour, daytime performance or physical health, the true cause of which needs to be recognised by clinicians to ensure that appropriate treatment is provided. As conventional history taking in neurology and psychiatry pays little attention to sleep and its possible disorders, suggestions are made concerning the enquiries that could be included in history taking schedules to increase the likelihood that sleep disorders will be correctly identified. PMID:18024690

  13. Clinical diagnosis and misdiagnosis of sleep disorders

    PubMed Central

    Stores, G

    2007-01-01

    Sleep disorders are common in all sections of the population and are either the main clinical complaint or a frequent complication of many conditions for which patients are seen in primary care or specialist services. However, the subject is poorly covered in medical education. A major consequence is that the manifestations of the many sleep disorders now identified are likely to be misinterpreted as other clinical conditions of a physical or psychological nature, especially neurological or psychiatric disorders. To illustrate this problem, examples are provided of the various possible causes of sleep loss, poor quality sleep, excessive daytime sleepiness and episodes of disturbed behaviour at night (parasomnias). All of these sleep disorders can adversely affect mental state and behaviour, daytime performance or physical health, the true cause of which needs to be recognised by clinicians to ensure that appropriate treatment is provided. As conventional history taking in neurology and psychiatry pays little attention to sleep and its possible disorders, suggestions are made concerning the enquiries that could be included in history taking schedules to increase the likelihood that sleep disorders will be correctly identified. PMID:18024690

  14. Key Clinical Features to Identify Girls with "CDKL5" Mutations

    ERIC Educational Resources Information Center

    Bahi-Buisson, Nadia; Nectoux, Juliette; Rosas-Vargas, Haydee; Milh, Mathieu; Boddaert, Nathalie; Girard, Benoit; Cances, Claude; Ville, Dorothee; Afenjar, Alexandra; Rio, Marlene; Heron, Delphine; Morel, Marie Ange N'Guyen; Arzimanoglou, Alexis; Philippe, Christophe; Jonveaux, Philippe; Chelly, Jamel; Bienvenu, Thierry

    2008-01-01

    Mutations in the human X-linked cyclin-dependent kinase-like 5 ("CDKL5") gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of…

  15. [Proliferative vitreoretinopathy: pathophysiology and clinical diagnosis].

    PubMed

    Rouberol, F; Chiquet, C

    2014-09-01

    Proliferative vitreoretinopathy (PVR) remains one of the most common causes of failed retinal detachment (RD) surgery. Many histological and clinical studies have highlighted the chain of events leading to PVR: cellular migration into the vitreous cavity, cellular differentiation, myofibroblast proliferation and activation, synthesis of extracellular matrix proteins, then contraction of preretinal tissues. The development of PVR can be explained schematically by cellular exposure to growth factors and cytokines (particularly retinal pigment epithelial cells and glial cells), in the context of break-down of the blood-retinal barrier (inflammation, choroidal detachment, iatrogenic effect of cryotherapy and surgery) and of cellular contact with the vitreous. Although the pathophysiology of PVR is now better understood, its severity remains an issue. A systematic search for preoperative PVR risk factors allows the most suitable therapeutic option to be chosen. PMID:24997864

  16. Using Comprehensive Feature Lists to Bias Medical Diagnosis

    ERIC Educational Resources Information Center

    Kulatunga-Moruzi, Chan; Brooks, Lee R.; Norman, Geoffrey R.

    2004-01-01

    Clinicians routinely report fewer features in a case than they subsequently agree are present. The authors report studies that assess the effect of considering a more comprehensive description than physicians usually offer. These comprehensive descriptions were generated from photographs of dermatology and internal medicine and were complete and…

  17. Oral lichen planus: the clinical, historical, and therapeutic features of 100 cases.

    PubMed

    Vincent, S D; Fotos, P G; Baker, K A; Williams, T P

    1990-08-01

    Lichen planus is a chronic inflammatory epidermal and mucosal disease, the cause of which is poorly understood. We reviewed the clinical and historic features of 100 patients referred to our clinic for diagnosis and management of lichen planus. The age, gender, chief complaint, duration of the chief complaint, medical history, medications, and clinical findings were recorded. Past therapeutic modalities were reviewed. Of therapeutic significance, 25 patients with oral lichen planus had a secondary oral candidiasis. Management of symptomatic lichen planus with topical and systemic steroid is discussed. The pharmacology of topical and systemic steroid usage and the rationale for treatment are discussed. PMID:2290644

  18. Pseudohypoaldosteronism type 1: clinical features and management in infancy

    PubMed Central

    Amin, N; Alvi, N S; Barth, J H; Field, H P; Finlay, E; Tyerman, K; Frazer, S; Savill, G; Wright, N P; Makaya, T; Mushtaq, T

    2013-01-01

    Summary Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into i) renal type 1 (autosomal dominant (AD)) and ii) multiple target organ defect/systemic type 1 (autosomal recessive (AR)). The aim of this case series was to characterise the mode of presentation, management and short-term clinical outcomes of patients with PHA type 1. Case notes of newly diagnosed infants presenting with PHA type 1 were reviewed over a 5-year time period. Seven patients were diagnosed with PHA type 1. Initial presentation ranged from 4 to 28 days of age. Six had weight loss as a presenting feature. All subjects had hyperkalaemia, hyponatraemia, with elevated renin and aldosterone levels. Five patients have renal PHA type 1 and two patients have systemic PHA type, of whom one has had genetic testing to confirm the AR gene mutation on the SCNN1A gene. Renal PHA type 1 responds well to salt supplementation, whereas management of patients with systemic PHA type 1 proves more difficult as they are likely to get frequent episodes of electrolyte imbalance requiring urgent correction. Learning points Patients with type 1 PHA are likely to present in the neonatal period with hyponatraemia, hyperkalaemia and metabolic acidosis and can be diagnosed by the significantly elevated plasma renin activity and aldosterone levels.The differential diagnosis of type 1 PHA includes adrenal disorders such as adrenal hypoplasia and congenital adrenal hyperplasia; thus, adrenal function including cortisol levels, 17-hydroxyprogesterone and a urinary steroid profile are required. Secondary (transient) causes of PHA may be due to urinary tract infections or renal anomalies; thus, urine

  19. Visual Aggregate Analysis of Eligibility Features of Clinical Trials

    PubMed Central

    He, Zhe; Carini, Simona; Sim, Ida; Weng, Chunhua

    2015-01-01

    Objective To develop a method for profiling the collective populations targeted for recruitment by multiple clinical studies addressing the same medical condition using one eligibility feature each time. Methods Using a previously published database COMPACT as the backend, we designed a scalable method for visual aggregate analysis of clinical trial eligibility features. This method consists of four modules for eligibility feature frequency analysis, query builder, distribution analysis, and visualization, respectively. This method is capable of analyzing (1) frequently used qualitative and quantitative features for recruiting subjects for a selected medical condition, (2) distribution of study enrollment on consecutive value points or value intervals of each quantitative feature, and (3) distribution of studies on the boundary values, permissible value ranges, and value range widths of each feature. All analysis results were visualized using Google Charts API. Five recruited potential users assessed the usefulness of this method for identifying common patterns in any selected eligibility feature for clinical trial participant selection. Results We implemented this method as a Web-based analytical system called VITTA (Visual Analysis Tool of Clinical Study Target Populations). We illustrated the functionality of VITTA using two sample queries involving quantitative features BMI and HbA1c for conditions “hypertension” and “Type 2 diabetes”, respectively. The recruited potential users rated the user-perceived usefulness of VITTA with an average score of 86.4/100. Conclusions We contributed a novel aggregate analysis method to enable the interrogation of common patterns in quantitative eligibility criteria and the collective target populations of multiple related clinical studies. A larger-scale study is warranted to formally assess the usefulness of VITTA among clinical investigators and sponsors in various therapeutic areas. PMID:25615940

  20. CT findings and clinical features of pancreatic hemolymphangioma: a case report and review of the literature.

    PubMed

    Pan, Liang; Jian-bo, Gao; Javier, Pullas Tapia Gonzalo

    2015-01-01

    Pancreatic hemolymphangioma is a very rare benign tumor. There were only 10 reports of this disease until June 2014.The aim of the present study was to describe a hemolymphangioma in the neck and body of the pancreas in a 57-year-old woman.The method used in the present study consists of description of the clinical history, image lab features, and pathological result.The patient complained of a 10-day history of epigastric discomfort. Abdominal computed tomography (CT) showed a cystic-solid tumor with an irregular shape, in the neck and body of the pancreas. The tumoral cystic wall and its internal division could be seen intensified on contrast-enhanced CT images compared with those on precontrast images. The pathological examination confirmed the diagnosis.The clinical feature of pancreatic hemolymphangioma includes a lack of specificity. The CT appearance combined with age and sex may be useful in making an early diagnosis. PMID:25621699

  1. Integrating Preclinical and Clinical Oral Diagnosis and Radiology.

    ERIC Educational Resources Information Center

    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)

  2. Clinical Diagnosis among Diverse Populations: A Multicultural Perspective.

    ERIC Educational Resources Information Center

    Solomon, Alison

    1992-01-01

    Discusses four ways in which clinical diagnosis can be detrimental to minority clients: (1) cultural expressions of symptomatology; (2) unreliable research instruments; (3) clinician bias; and (4) institutional racism. Recommendations to avoid misdiagnosis begin with accurate assessment of a client's history and cultural background. (SLD)

  3. Distinct Clinic-Pathological Features of Early Differentiated-Type Gastric Cancers after Helicobacter pylori Eradication.

    PubMed

    Horiguchi, Noriyuki; Tahara, Tomomitsu; Kawamura, Tomohiko; Okubo, Masaaki; Ishizuka, Takamitsu; Nakagawa, Yoshihito; Nagasaka, Mitsuo; Shibata, Tomoyuki; Ohmiya, Naoki

    2016-01-01

    Background. Gastric cancer is discovered even after successful eradication of H. pylori. We investigated clinic pathological features of early gastric cancers after H. pylori eradication. Methods. 51 early gastric cancers (EGCs) from 44 patients diagnosed after successful H. pylori eradication were included as eradication group. The clinic-pathological features were compared with that of 131 EGCs from 120 patients who did not have a history of H. pylori eradication (control group). Results. Compared with control group, clinic-pathological features of eradication group were characterized as depressed (p < 0.0001), reddish (p = 0.0001), and smaller (p = 0.0095) lesions, which was also confirmed in the comparison of six metachronous lesions diagnosed after initial ESD and subsequent successful H. pylori eradication. Prevalence of both SM2 (submucosal invasion greater than 500 μm) and unexpected SM2 cases tended to be higher in eradication group (p = 0.077, 0.0867, resp.). Prevalence of inconclusive diagnosis of gastric cancer during pretreatment biopsy was also higher in the same group (26.0% versus 1.6%, p < 0.0001). Conclusions. Informative clinic pathological features of EGC after H. pylori eradication are depressed, reddish appearances, which should be treated as a caution because histological diagnosis of cancerous tissue is sometimes difficult by endoscopic biopsy. PMID:27212944

  4. Distinct Clinic-Pathological Features of Early Differentiated-Type Gastric Cancers after Helicobacter pylori Eradication

    PubMed Central

    Horiguchi, Noriyuki; Tahara, Tomomitsu; Kawamura, Tomohiko; Okubo, Masaaki; Ishizuka, Takamitsu; Nakagawa, Yoshihito; Nagasaka, Mitsuo; Shibata, Tomoyuki; Ohmiya, Naoki

    2016-01-01

    Background. Gastric cancer is discovered even after successful eradication of H. pylori. We investigated clinic pathological features of early gastric cancers after H. pylori eradication. Methods. 51 early gastric cancers (EGCs) from 44 patients diagnosed after successful H. pylori eradication were included as eradication group. The clinic-pathological features were compared with that of 131 EGCs from 120 patients who did not have a history of H. pylori eradication (control group). Results. Compared with control group, clinic-pathological features of eradication group were characterized as depressed (p < 0.0001), reddish (p = 0.0001), and smaller (p = 0.0095) lesions, which was also confirmed in the comparison of six metachronous lesions diagnosed after initial ESD and subsequent successful H. pylori eradication. Prevalence of both SM2 (submucosal invasion greater than 500 μm) and unexpected SM2 cases tended to be higher in eradication group (p = 0.077, 0.0867, resp.). Prevalence of inconclusive diagnosis of gastric cancer during pretreatment biopsy was also higher in the same group (26.0% versus 1.6%, p < 0.0001). Conclusions. Informative clinic pathological features of EGC after H. pylori eradication are depressed, reddish appearances, which should be treated as a caution because histological diagnosis of cancerous tissue is sometimes difficult by endoscopic biopsy. PMID:27212944

  5. Anti-N-methyl-d-aspartate receptor encephalitis: review of clinical presentation, diagnosis and treatment

    PubMed Central

    Barry, Helen; Byrne, Susan; Barrett, Elizabeth; Murphy, Kieran C.; Cotter, David R.

    2015-01-01

    Anti-N-methyl-d-aspartate (NMDA) receptor encephalitis is a form of encephalitis occurring primarily in women and associated with antibodies against NR1 or NR2 subunits of the NMDA receptor. As a potentially treatable differential for symptoms and signs seen in neurology and psychiatric clinics, clinicians practising across the lifespan should be aware of this form of encephalitis. Common clinical features include auditory and visual hallucinations, delusions, behavioural change (frequently with agitation), impaired consciousness, motor disturbance (ranging from dyskinesia to catatonia), seizures, and autonomic dysfunction. We present a review of the literature on the disorder, including its clinical presentation, differential diagnosis, epidemiology, treatment and prognosis. PMID:26191419

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

    PubMed Central

    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 lymph nodes. The multiple nodes were hard, fixed, and the major diameter of the larger one was 2 cm. The main pathological changes included: the capsule was significantly thickened; reactive hyperplasia of lymphoid follicular with sky star phenomenon; occlusive endovasculitis; perivascular inflammation; the proliferation of epithelioid histiocytes can form granulomas with few multinucleated giant cells; few necrosis. TP-ELISA and RPR were positive. Conclusions: The pathological changes of syphilitic lymphadenitis have a variety of performance with relatively specific and suggestive alterations which requires a combination of clinical history and laboratory test before the diagnosis, and the clinicians can reduce misdiagnosis and missed diagnosis of the disease by increasing vigilance of it. PMID:26722588

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

    PubMed

    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

  8. The relevance of clinical and radiographic features of jaw lesions: A prospective study.

    PubMed

    Araujo, Juliane Piragine; Lemos, Celso Augusto; Miniello, Thais Gimenez; Alves, Fabio Abreu

    2016-01-01

    The study was carried out in a Brazilian population and the aim was to describe the prevalence and the clinic-radiographical features of jaw lesions. In addition, a comparison between the main diagnosis hypothesis and final diagnosis was accessed. A prospective study which evaluated all patients with jaw lesions diagnosed in an Oral Diagnosis Center, between August 2013 and October 2014. A total of 450 patients were observed for the first time, and 130 had some type of jaw lesion. The mean age of the patients was 35.2 years ± 17.86. Among these, 71 were women (54.62%) and 87 were Caucasian (66.92%). The mandible was affected more frequently (71.43%) than the maxilla (28.57%). Swelling and pain were the most frequent clinical signs and symptoms and were observed in 60 (42.85%) and 38 (27.14%) cases, respectively. The panoramic x-ray was the main radiographic exam utilized (88.57%). Radiolucent lesions accounted for 89 cases (63.57%) and the unilocular form was present in 114 cases (81.43%). A total of 93 cases had histopathological analyses and the periapical cyst was the most frequent lesion. In the other 47 lesions, the diagnosis was conducted by clinical and radiographic management. Bone lesions were frequent, being noted on first visit in approximately 30% of patients; in 1/3 of the cases, the diagnoses were completed with a combination of clinical and radiographic exams. PMID:27556683

  9. Opercular malformations: clinical and MRI features in 11 children.

    PubMed

    Rolland, Y; Adamsbaum, C; Sellier, N; Robain, O; Ponsot, G; Kalifa, G

    1995-11-01

    Opercular malformations are rare and complex brain malformations for which only very fragmented neuropathological descriptions have been reported. They are related to an abnormal development of both sylvian fissure and frontoparietal operculum. We report a retrospective clinical and MRI study of 11 patients presenting with opercular malformations. A congenital pseudobulbar syndrome was observed in six cases, various motor disorders in seven cases, mental retardation in six cases and epilepsy in four cases. The purpose of this study is to evaluate the main features of opercular malformations in children and to try to characterise this entity on the basis of its clinical features and MRI pattern. PMID:8577527

  10. Clinical features and diagnosis of diabetic ketoacidosis in children

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Diabetic ketoacidosis (DKA) is the leading cause of morbidity and mortality in children with type 1 diabetes mellitus (DM). DKA also can occur children with type 2 DM, particularly in obese African-American adolescents. In recent years, the incidence and prevalence of type 2 diabetes mellitus have i...

  11. Hollow organ abdominal ischemia, part II: clinical features, etiology, imaging findings and management.

    PubMed

    Ricci, Zina J; Mazzariol, Fernanda S; Kaul, Bindu; Oh, Sarah K; Chernyak, Victoria; Flusberg, Milana; Stein, Marjorie W; Rozenblit, Alla M

    2016-01-01

    Acute hollow organ ischemia commonly presents with acute pain prompting radiologic evaluation and almost always requires urgent treatment. Despite different risk factors and anatomic differences, ischemia is commonly due to low flow states but can also be due to arterial and venous occlusion. Radiologic diagnosis is critical as many present with nonspecific symptoms. Contrast-enhanced computed tomography (CT) is the modality of choice. Magnetic resonance imaging (MRI) is preferred in suspected appendicitis in pregnant patients and is superior in biliary necrosis. This article provides a pictorial review of the CT/MRI features of hollow abdominal organ ischemia while highlighting key clinical features, pathogenesis, and management. PMID:27317221

  12. Clinical investigation of speech signal features among patients with schizophrenia

    PubMed Central

    ZHANG, Jing; PAN, Zhongde; GUI, Chao; CUI, Donghong

    2016-01-01

    Background A new area of interest in the search for biomarkers for schizophrenia is the study of the acoustic parameters of speech called 'speech signal features'. Several of these features have been shown to be related to emotional responsiveness, a characteristic that is notably restricted in patients with schizophrenia, particularly those with prominent negative symptoms. Aim Assess the relationship of selected acoustic parameters of speech to the severity of clinical symptoms in patients with chronic schizophrenia and compare these characteristics between patients and matched healthy controls. Methods Ten speech signal features-six prosody features, formant bandwidth and amplitude, and two spectral features-were assessed using 15-minute speech samples obtained by smartphone from 26 inpatients with chronic schizophrenia (at enrollment and 1 week later) and from 30 healthy controls (at enrollment only). Clinical symptoms of the patients were also assessed at baseline and 1 week later using the Positive and Negative Syndrome Scale, the Scale for the Assessment of Negative Symptoms, and the Clinical Global Impression-Schizophrenia scale. Results In the patient group the symptoms were stable over the 1-week interval and the 1-week test-retest reliability of the 10 speech features was good (intraclass correlation coefficients [ICC] ranging from 0.55 to 0.88). Comparison of the speech features between patients and controls found no significant differences in the six prosody features or in the formant bandwidth and amplitude features, but the two spectral features were different: the Mel-frequency cepstral coefficient (MFCC) scores were significantly lower in the patient group than in the control group, and the linear prediction coding (LPC) scores were significantly higher in the patient group than in the control group. Within the patient group, 10 of the 170 associations between the 10 speech features considered and the 17 clinical parameters considered were

  13. Different morphologic aspects and clinical features in massive hepatic amyloidosis.

    PubMed

    Melato, M; Manconi, R; Magris, D; Morassi, P; Benussi, D G; Tiribelli, C

    1984-01-01

    4 cases of massive hepatic amyloidosis are reported with special reference to their clinical profiles and histologic features. On the basis of these data, two different clinical and histologic courses of the disease can be distinguished. 2 patients showed marked hepatomegaly without cholestasis, whereas in the other 2 the clinical picture was characterized by much less pronounced hepatomegaly, but by severe and progressive intrahepatic cholestasis. The time course of the disease seems to be different in the two forms, the cholestatic form being more rapidly fatal than the other. PMID:6745505

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

    PubMed

    Finner, Andreas M

    2011-01-01

    Alopecia areata (AA) is a nonscarring hair loss disorder with a 2% lifetime risk. Most patients are below 30 years old. Clinical types include patchy AA, AA reticularis, diffuse AA, AA ophiasis, AA sisiapho, and perinevoid AA. Besides scalp and body hair, the eyebrows, eyelashes, and nails can be affected. The disorder may be circumscribed, total (scalp hair loss), and universal (loss of all hairs). Atopy, autoimmune thyroid disease, and vitiligo are more commonly associated. The course of the disease is unpredictable. However, early, long-lasting, and severe cases have a less favorable prognosis. The clinical diagnosis is made by the aspect of hairless patches with a normal skin and preserved follicular ostia. Exclamations mark hairs and a positive pull test signal activity. Dermoscopy may reveal yellow dots. White hairs may be spared; initial regrowth may also be nonpigmented. The differential diagnosis includes trichotillomania, scarring alopecia, and other nonscarring hair loss disorders such as tinea capitis and syphilis. PMID:21689244

  15. Diffuse Infiltrative Lesion of the Breast: Clinical and Radiologic Features

    PubMed Central

    An, Yeong Yi; Cha, Eun Suk; Kim, Hyeon Sook; Kang, Bong Joo; Park, Chang Suk; Jung, Na Young; Whang, In Yong; Yoon, Soo Kyung

    2011-01-01

    The purpose of this paper is to show the clinical and radiologic features of a variety of diffuse, infiltrative breast lesions, as well to review the relevant literature. Radiologists must be familiar with the various conditions that can diffusely involve the breast, including normal physiologic changes, benign disease and malignant neoplasm. PMID:21228947

  16. Repetitive Behaviors in Autism: Relationships with Associated Clinical Features

    ERIC Educational Resources Information Center

    Gabriels, Robin L.; Cuccaro, Michael L.; Hill, Dina E.; Ivers, Bonnie J.; Goldson, Edward

    2005-01-01

    Relationships between repetitive behaviors (RBs) and associated clinical features (i.e., cognitive and adaptive functioning levels, sleep problems, medication use, and other behavioral problems) were examined in two groups (High nonverbal IQ greater than or equal to 97 versus Low nonverbal IQ less than or equal to 56) of children with autism…

  17. Zika virus: epidemiology, clinical features and host-virus interactions.

    PubMed

    Hamel, Rodolphe; Liégeois, Florian; Wichit, Sineewanlaya; Pompon, Julien; Diop, Fodé; Talignani, Loïc; Thomas, Frédéric; Desprès, Philippe; Yssel, Hans; Missé, Dorothée

    2016-01-01

    Very recently, Zika virus (ZIKV) has gained a medical importance following the large-scale epidemics in South Pacific and Latin America. This paper reviews information on the epidemiology and clinical features of Zika disease with a particular emphasis on the host-virus interactions that contribute to the pathogenicity of ZIKV in humans. PMID:27012221

  18. Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

    ERIC Educational Resources Information Center

    Jackowski, Andrea Parolin; Laureano, Maura Regina; Del'Aquilla, Marco Antonio; de Moura, Luciana Monteiro; Assuncao, Idaiane; Silva, Ivaldo; Schwartzman, Jose Salomao

    2011-01-01

    Neuroimaging methods represent a critical tool in efforts to join the study of the neurobiology of genes with the neurobiology of behaviour, and to understand the neurodevelopmental pathways that give rise to cognitive and behavioural impairments. This article reviews the clinical features and highlights studies with a focus on the relevant…

  19. [Comparative clinical analysis of histological systems of adrenocortical tumors diagnosis].

    PubMed

    Bokhyan, V Yu; Stilidi, I S; Pavlovskaya, A I

    2015-01-01

    Differential diagnosis of adrenocortical cancer (ACC) and cortical adenoma presents certain difficulties since there is no specific histological criterion allowing to distinguish tumors of the adrenal cortex with malignant clinical course. Currently there are offered several systems, and the most widely spread have the index Weiss (IW) and the modified index Weiss (MIW). The accuracy of one or another of the proposed systems remains a matter of debate. There was analyzed own experience on the use of IW and MIW in the diagnosis of 91 cases of the ACC and 13 cases of cortex adenomas of the size at least 5 cm. For the diagnosis of large adenomas sensitivity IW was 77%, MIW--100%. For the diagnosis of metastatic and non-metastatic ACC--100% and 97%, 100% and 86%, respectively (p > 0.05). In multivariate analysis of life expectancy of patients the definition of IW and MIW had a prognostic significance. MIW was less subjective, more simple and convenient to be used and it showed a great informative value at the reclassification of certain "adenomas" into ACC. However to use it on their own, without IW, was impractical as MIW had wider gray area and did not reach the threshold value in some cases of ACC. For the diagnosis of tumors of the adrenal cortex IW remains a standard; when a value was equal of 2 or in cases of doubt it was necessary to calculate MIW as well. PMID:26995980

  20. Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".

    PubMed

    Sakiyama, Tomo; Kubo, Akiharu

    2016-03-01

    Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkeratosis of the palm and the sole skin. Hereditary PPK are divided into four groups--diffuse, focal, striate and punctate PPK--according to the clinical patterns of the hyperkeratotic lesions. Each group includes simple PPK, without associated features, and PPK with associated features, such as involvement of nails, teeth and other organs. PPK have been classified by a clinically based descriptive system. In recent years, many causative genes of PPK have been identified, which has confirmed and/or rearranged the traditional classifications. It is now important to diagnose PPK by a combination of the traditional morphological classification and genetic testing. In this review, we focus on PPK without associated features and introduce their morphological features, genetic backgrounds and new findings from the last decade. PMID:26945534

  1. [Differential diagnosis from hyperglycemic ketoacidosis: pesticide poisoning. Clinical case].

    PubMed

    Vélez, Paola; Paredes, Patricio; Fuenmayor, Frances

    2016-04-01

    Diabetic ketoacidosis in children causes serious morbidity and mortality, especially if it is not recognized on time in the initial diagnosis. However, there are other diseases that can appear to be a metabolic disorder of this kind and be ignored if it is not suspected. We present a clinical case with hyperglycemic ketoacidosis due to the contact with organophosphate; we had to use a continuous infusion of insulin to control the metabolic disorder without repercussions after the girl came home. PMID:27079411

  2. [Vasculitic Peripheral Neuropathies: Clinical Features and Diagnostic Laboratory Tests].

    PubMed

    Ogata, Katsuhisa

    2016-03-01

    Vasculitic peripheral neuropathy (VPN) occurs due to ischemic changes of peripheral nerves, resulting from a deficit of vascular blood supply due to damaged vasa nervorum leading to vasculitis. VPN usually manifests as sensorimotor or sensory disturbances accompanied by pain, presenting as a type of multiple mononeuropathy, with a scattered distribution in distal limbs. VPN may also present as a mononeuropathy, distal symmetric polyneuropathy, plexopathy, or radiculopathy. The rapidity of VPN is variable, ranging from days to months, with symptoms occasionally changing with the appearance of new lesions. Careful history taking and neurological examination provides an exact diagnosis. The most common cause of VPN is primary vasculitis predominantly affecting small vessels, including vasa nervorum, anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, and polyarteritis nodosa. Similar vasculitic processes can also result from a systemic collagen disorder or secondary vasculitis. Electrophysiological studies and pathological investigation of biopsied peripheral nerves and muscles are important for diagnosis of vasculitis. Serological tests, including ANCA, are useful for diagnosis of vasculitis. Accurate neurological examinations are essential for diagnosis and evaluation of clinical course. PMID:27001769

  3. Prediction models for solitary pulmonary nodules based on curvelet textural features and clinical parameters.

    PubMed

    Wang, Jing-Jing; Wu, Hai-Feng; Sun, Tao; Li, Xia; Wang, Wei; Tao, Li-Xin; Huo, Da; Lv, Ping-Xin; He, Wen; Guo, Xiu-Hua

    2013-01-01

    Lung cancer, one of the leading causes of cancer-related deaths, usually appears as solitary pulmonary nodules (SPNs) which are hard to diagnose using the naked eye. In this paper, curvelet-based textural features and clinical parameters are used with three prediction models [a multilevel model, a least absolute shrinkage and selection operator (LASSO) regression method, and a support vector machine (SVM)] to improve the diagnosis of benign and malignant SPNs. Dimensionality reduction of the original curvelet-based textural features was achieved using principal component analysis. In addition, non-conditional logistical regression was used to find clinical predictors among demographic parameters and morphological features. The results showed that, combined with 11 clinical predictors, the accuracy rates using 12 principal components were higher than those using the original curvelet-based textural features. To evaluate the models, 10-fold cross validation and back substitution were applied. The results obtained, respectively, were 0.8549 and 0.9221 for the LASSO method, 0.9443 and 0.9831 for SVM, and 0.8722 and 0.9722 for the multilevel model. All in all, it was found that using curvelet-based textural features after dimensionality reduction and using clinical predictors, the highest accuracy rate was achieved with SVM. The method may be used as an auxiliary tool to differentiate between benign and malignant SPNs in CT images. PMID:24289618

  4. [Discussion on Clinical and Diagnosis Program of Integrative Medicine].

    PubMed

    Zeng, Yi-di; Cao, Ze-biao; Du, Jia; Tao, Jing-jie; Zhou, Xiao-qing

    2016-05-01

    Facing current situation of integrative medicine (IM), authors put forward that clinical and diagnosis program of IM could be carried out from clinical path, pathogenesis, treatment theory and philosophy, and so on, but with different integration degrees. Meanwhile, formulation of concrete program should be disease-targetedly set up, and adjusted from person to person, from place to place, from time to time. As for settled IM program , authors could evaluate it from whether Chinese medicine and Western medicine have formed complementary, synergistic, excitatory actions, and toxicity attenuation; whether more problems could be solved in efficacy, safety, practicability, and economy than previous single mode. PMID:27386638

  5. Primary biliary cirrhosis: Clinical and laboratory criteria for its diagnosis

    PubMed Central

    Reshetnyak, Vasiliy Ivanovich

    2015-01-01

    Primary biliary cirrhosis (PBC) is a chronic progressive cholestatic granulomatous, and destructive inflammatory lesion of small intralobular and septal bile ducts, which is likely to be caused by an autoimmune mechanism with a the presence of serum antimitochondrial antibodies and a potential tendency to progress to cirrhosis. Despite the fact that the etiology of this disease has been unknown so far, there has been a considerable body of scientific evidence that can reveal the clinical and laboratory signs of PBC and the individual components of its pathogenesis and elaborate diagnostic criteria for the disease and its symptomatic therapy. Deficiencies in autoimmune tolerance are critical factors for the initiation and perpetuation of the disease. The purpose of this review is to summarize the data available in the literature and the author’s findings on clinical and laboratory criteria for the diagnosis of PBC. This review describes the major clinical manifestations of the disease and the mechanisms of its development. It presents the immunological, biochemical, and morphological signs of PBC and their significance for its diagnosis. A great deal of novel scientific evidence for the problem of PBC has been accumulated. However, the inadequate efficiency of therapy for the disease lends impetus to the quest for its etiological factors and to further investigations of its pathogenetic mechanisms and, on this basis, to searches for new methods for its early diagnosis. PMID:26167070

  6. Sex Differences in Clinical Features of Early, Treated Parkinson’s Disease

    PubMed Central

    Augustine, Erika F.; Pérez, Adriana; Dhall, Rohit; Umeh, Chizoba C.; Videnovic, Aleksandar; Cambi, Franca; Wills, Anne-Marie A.; Elm, Jordan J.; Zweig, Richard M.; Shulman, Lisa M.; Nance, Martha A.; Bainbridge, Jacquelyn; Suchowersky, Oksana

    2015-01-01

    Introduction To improve our understanding of sex differences in the clinical characteristics of Parkinson’s Disease, we sought to examine differences in the clinical features and disease severity of men and women with early treated Parkinson’s Disease (PD) enrolled in a large-scale clinical trial. Methods Analysis was performed of baseline data from the National Institutes of Health Exploratory Trials in Parkinson’s Disease (NET-PD) Long-term Study-1, a randomized, multi-center, double-blind, placebo-controlled study of 10 grams of oral creatine/day in individuals with early, treated PD. We compared mean age at symptom onset, age at PD diagnosis, and age at randomization between men and women using t-test statistics. Sex differences in clinical features were evaluated, including: symptoms at diagnosis (motor) and symptoms at randomization (motor, non-motor, and daily functioning). Results 1,741 participants were enrolled (62.5% male). No differences were detected in mean age at PD onset, age at PD diagnosis, age at randomization, motor symptoms, or daily functioning between men and women. Differences in non-motor symptoms were observed, with women demonstrating better performance compared to men on SCOPA-COG (Z = 5.064, p<0.0001) and Symbol Digit Modality measures (Z = 5.221, p<0.0001). Conclusions Overall, men and women did not demonstrate differences in clinical motor features early in the course of PD. However, the differences observed in non-motor cognitive symptoms suggests further assessment of the influence of sex on non-motor symptoms in later stages of PD is warranted. PMID:26171861

  7. Overlap of clinical features of Smith-Magenis & Down Syndrome in newborns and infants

    SciTech Connect

    Thomson, K.A.; Finucane, B.M.; Bauer, M.S.

    1994-09-01

    Smith-Magenis Syndrome (SMS) frequently goes unrecognized in newborns and infants as these patients do not yet demonstrate the characteristic behavioral phenotype and may only present with developmental delay and physical dysmorphism. Six of Hall`s ten cardinal features of trisomy 21 in the newborn are also frequently found in newborns with SMS, leading to an early presumptive diagnosis of DS in many of these patients. CASE No. 1: Based on clinical findings, a presumptive diagnosis of DS was given to the patient in the newborn period. Chromosome analysis of peripheral blood revealed a normal 46,XX karyotype. Given this result, the possibility of mosaic DS was raised, and a skin fibroblast study done. Again, the karyotype was reported as normal. Clinical features and cytogenetic analysis confirmed a diagnosis of SMS when the patient was 8 years old. CASE No. 2: A presumptive diagnosis of DS was made in an infant with hypotonia, facial dysmorphisms and congenital heart defects. A routine chromosome analysis was ordered, which revealed a 46,XY,del(17)(p11.2p11.2) karyotype. Indeed, approximately 38% of blood samples referred to our laboratory to rule out DS in an infant failed to demonstrate trisomy for chromosome 21. Given the high degree of clinical overlap with Down Syndrome, the diagnosis of SMS should be considered in all such patients. Additional analysis should be done to look for deletion 17p11.2 when faced with a {open_quotes}normal{close_quotes} karyotype in an infant referred to rule out DS.

  8. Automatic extraction of retinal features from colour retinal images for glaucoma diagnosis: a review.

    PubMed

    Haleem, Muhammad Salman; Han, Liangxiu; van Hemert, Jano; Li, Baihua

    2013-01-01

    Glaucoma is a group of eye diseases that have common traits such as, high eye pressure, damage to the Optic Nerve Head and gradual vision loss. It affects peripheral vision and eventually leads to blindness if left untreated. The current common methods of pre-diagnosis of Glaucoma include measurement of Intra-Ocular Pressure (IOP) using Tonometer, Pachymetry, Gonioscopy; which are performed manually by the clinicians. These tests are usually followed by Optic Nerve Head (ONH) Appearance examination for the confirmed diagnosis of Glaucoma. The diagnoses require regular monitoring, which is costly and time consuming. The accuracy and reliability of diagnosis is limited by the domain knowledge of different ophthalmologists. Therefore automatic diagnosis of Glaucoma attracts a lot of attention. This paper surveys the state-of-the-art of automatic extraction of anatomical features from retinal images to assist early diagnosis of the Glaucoma. We have conducted critical evaluation of the existing automatic extraction methods based on features including Optic Cup to Disc Ratio (CDR), Retinal Nerve Fibre Layer (RNFL), Peripapillary Atrophy (PPA), Neuroretinal Rim Notching, Vasculature Shift, etc., which adds value on efficient feature extraction related to Glaucoma diagnosis. PMID:24139134

  9. Automatic differential diagnosis of pancreatic serous and mucinous cystadenomas based on morphological features.

    PubMed

    Song, Jae-Won; Lee, Ju-Hong; Choi, Joon-Hyuk; Chun, Seok-Ju

    2013-01-01

    Generally, pathological diagnosis using an electron microscope is time-consuming and likely to result in a subjective judgment, because pathologists perform manual screening of tissue slides at high magnifications. Recently, the advent of digital pathology technology has provided the basis for convenient screening and quantitative analysis by digitizing tissue slides through a computer system. However, a screening process with high magnification still takes quite a long time. To solve these problems, recently the use of computer-aided design techniques for performing pathologic diagnosis has been increasing in digital pathology. For pathological diagnosis, we need different diagnostic methods for different regions with different characteristics. Therefore, in order to effectively diagnose different lesions and types of diseases, a quantitative method for extracting specific features is required in computerized pathologic diagnosis. This study is about an automated differential diagnosis system to differentiate between benign serous cystadenoma and possibly-malignant mucinous cystadenoma. In order to diagnose cystic tumors, the first step is identifying a cystic region and inspecting its epithelial cells. First, we identify the lumen boundary of a cyst using the Direction Cumulative Map considering 8-ways. Then, the Epithelial Nuclei Identification algorithm is used to discern epithelial nuclei. After that, three morphological features for the differential diagnosis of mucinous and serous cystadenomas are extracted. To demonstrate the superiority of the proposed features, the experiments compared performance of the classifiers learned by using the proposed morphological features and the classical morphological features based on nuclei. The classifiers in the simulations are as follows; Bayesian Classifier, k-Nearest Neighbors, Support Vector Machine, and Artificial Neural Network. The results show that all classifiers using the proposed features have the best

  10. Clinical features of pulmonary artery sarcoma: A report of three cases

    PubMed Central

    Zhu, Guangfa; Pu, Xin; Guo, Hongjuang; Huang, Xiaoyong; Chen, Dong; Gan, Huili

    2016-01-01

    Pulmonary artery sarcoma (PAS) is a rare and highly malignant tumor of pulmonary artery origin. Since 1923, when the first case was reported, <300 cases have been reported worldwide. PAS has a poor prognosis, and early diagnosis with radical surgical resection offers patients with PAS the only chance of survival. However, due to its rarity and the non-specificity of its clinical manifestations and imaging presentation, PAS is frequently misdiagnosed as a pulmonary thromboembolic disease, including pulmonary thromboembolism (PTE) and chronic thromboembolic pulmonary hypertension (CTEPH). The present study reports three cases of PAS that were initially misdiagnosed as PTE or CTEPH, and were later shown to be PAS following surgery. In addition, the clinical features of these patients are examined in order to improve the differential diagnosis of PAS during the early stages of the disease, when the prognosis of patients with PAS is at its optimum. PMID:27446344

  11. Unsupervised Pattern Classifier for Abnormality-Scaling of Vibration Features for Helicopter Gearbox Fault Diagnosis

    NASA Technical Reports Server (NTRS)

    Jammu, Vinay B.; Danai, Kourosh; Lewicki, David G.

    1996-01-01

    A new unsupervised pattern classifier is introduced for on-line detection of abnormality in features of vibration that are used for fault diagnosis of helicopter gearboxes. This classifier compares vibration features with their respective normal values and assigns them a value in (0, 1) to reflect their degree of abnormality. Therefore, the salient feature of this classifier is that it does not require feature values associated with faulty cases to identify abnormality. In order to cope with noise and changes in the operating conditions, an adaptation algorithm is incorporated that continually updates the normal values of the features. The proposed classifier is tested using experimental vibration features obtained from an OH-58A main rotor gearbox. The overall performance of this classifier is then evaluated by integrating the abnormality-scaled features for detection of faults. The fault detection results indicate that the performance of this classifier is comparable to the leading unsupervised neural networks: Kohonen's Feature Mapping and Adaptive Resonance Theory (AR72). This is significant considering that the independence of this classifier from fault-related features makes it uniquely suited to abnormality-scaling of vibration features for fault diagnosis.

  12. Fluorescein angiographic findings and clinical features in Fuchs' uveitis.

    PubMed

    Bouchenaki, Nadia; Herbort, Carl P

    2010-10-01

    Fuchs' uveitis is very often diagnosed with substantial delay, which is at the origin of deleterious effects such as unnecessary treatment and its consequences. The aim of this study was to analyse the type and frequency of posterior inflammatory and fluorescein angiographic signs in Fuchs' uveitis in conjunction with other clinical signs. Patients seen at the Centre for Ophthalmic Specialised Care (COS) in Lausanne and the Memorial A. de Rothschild, Clinique Générale-Beaulieu in Geneva between 1995 and 2008 with the diagnosis of Fuchs' uveitis and who had undergone a fundus fluorescein angiography (FFA) were analysed. In addition to FFA signs, the data collected included age, gender, initial and final visual acuities, clinical findings at presentation, mean diagnostic delay and ocular complications. Between 1995 and 2008, 105 patients seen in our centres in Lausanne and Geneva were diagnosed with Fuchs' uveitis. Forty of them (38.1%) had undergone at least one FFA. One patient was excluded because of a concomittant diagnosis of multiple sclerosis. In 28 of 39 patients (71.2%) diagnosis was not reached at presentation with a mean diagnosis delay of 3.67 ± 4.86 years (range: 1 month-24 years). The original erroneous diagnosis was intermediate uveitis in 16 patients (57.1%), posterior uveitis in two patients (7.1%), panuveitis in four patients (14.3%) and anterior granulomatous uveitis in six patients (21.4%). Fluorescein angiography demonstrated the presence of disc hyperfluorescence in 43/44 eyes (97.7%), sectorial peripheral retinal vascular leaking in 6/44 eyes (13.6%) and cystoid macular oedema in 4/44 eyes (9.1%), all of which were seen in eyes having undergone cataract surgery. Fuchs' uveitis was bilateral in 5/39 patients (12.8%). The most frequent clinical signs were vitritis in 42/44 eyes (95.5%), stellate keratic precipitates in 41 eyes (93.2%), posterior subcapsular opacities or cataract in 19 eyes (43.2%), and heterochromia in 19 eyes (43.2%). Fuchs

  13. Modeling clinical judgment and implicit guideline compliance in the diagnosis of melanomas using machine learning.

    PubMed

    Sboner, Andrea; Aliferis, Constantin F

    2005-01-01

    We explore several machine learning techniques to model clinical decision making of 6 dermatologists in the clinical task of melanoma diagnosis of 177 pigmented skin lesions (76 malignant, 101 benign). In particular we apply Support Vector Machine (SVM) classifiers to model clinician judgments, Markov Blanket and SVM feature selection to eliminate clinical features that are effectively ignored by the dermatologists, and a novel explanation technique whereby regression tree induction is run on the reduced SVM model's output to explain the physicians' implicit patterns of decision making. Our main findings include: (a) clinician judgments can be accurately predicted, (b) subtle decision making rules are revealed enabling the explanation of differences of opinion among physicians, and (c) physician judgment is non-compliant with the diagnostic guidelines that physicians self-report as guiding their decision making. PMID:16779123

  14. Canonical feature selection for joint regression and multi-class identification in Alzheimer’s disease diagnosis

    PubMed Central

    Zhu, Xiaofeng; Suk, Heung-Il

    2016-01-01

    Fusing information from different imaging modalities is crucial for more accurate identification of the brain state because imaging data of different modalities can provide complementary perspectives on the complex nature of brain disorders. However, most existing fusion methods often extract features independently from each modality, and then simply concatenate them into a long vector for classification, without appropriate consideration of the correlation among modalities. In this paper, we propose a novel method to transform the original features from different modalities to a common space, where the transformed features become comparable and easy to find their relation, by canonical correlation analysis. We then perform the sparse multi-task learning for discriminative feature selection by using the canonical features as regressors and penalizing a loss function with a canonical regularizer. In our experiments on the Alzheimer’s Disease Neuroimaging Initiative (ADNI) dataset, we use Magnetic Resonance Imaging (MRI) and Positron Emission Tomography (PET) images to jointly predict clinical scores of Alzheimer’s Disease Assessment Scale-Cognitive subscale (ADAS-Cog) and Mini-Mental State Examination (MMSE) and also identify multi-class disease status for Alzheimer’s disease diagnosis. The experimental results showed that the proposed canonical feature selection method helped enhance the performance of both clinical score prediction and disease status identification, outperforming the state-of-the-art methods. PMID:26254746

  15. Demographic and clinical features of neuromyelitis optica: A review

    PubMed Central

    Asgari, N; Apiwattanakul, M; Palace, J; Paul, F; Leite, MI; Kleiter, I; Chitnis, T

    2015-01-01

    The comparative clinical and demographic features of neuromyelitis optica (NMO) are not well known. In this review we analyzed peer-reviewed publications for incidence and prevalence, clinical phenotypes, and demographic features of NMO. Population-based studies from Europe, South East and Southern Asia, the Caribbean, and Cuba suggest that the incidence and prevalence of NMO ranges from 0.05–0.4 and 0.52–4.4 per 100,000, respectively. Mean age at onset (32.6–45.7) and median time to first relapse (8–12 months) was similar. Most studies reported an excess of disease in women and a relapsing course, particularly in anti-aquaporin 4 antibody (anti AQP4-IgG)-positive patients. Ethnicity may have a bearing on disease phenotype and clinical outcome. Despite limitations inherent to the review process, themes noted in clinical and demographic features of NMO among different populations promote a more global understanding of NMO and strategies to address it. PMID:25921037

  16. Fault diagnosis of rotating machinery with a novel statistical feature extraction and evaluation method

    NASA Astrophysics Data System (ADS)

    Li, Wei; Zhu, Zhencai; Jiang, Fan; Zhou, Gongbo; Chen, Guoan

    2015-01-01

    Fault diagnosis of rotating machinery is receiving more and more attentions. Vibration signals of rotating machinery are commonly analyzed to extract features of faults, and the features are identified with classifiers, e.g. artificial neural networks (ANNs) and support vector machines (SVMs). Due to nonlinear behaviors and unknown noises in machinery, the extracted features are varying from sample to sample, which may result in false classifications. It is also difficult to analytically ensure the accuracy of fault diagnosis. In this paper, a feature extraction and evaluation method is proposed for fault diagnosis of rotating machinery. Based on the central limit theory, an extraction procedure is given to obtain the statistical features with the help of existing signal processing tools. The obtained statistical features approximately obey normal distributions. They can significantly improve the performance of fault classification, and it is verified by taking ANN and SVM classifiers as examples. Then the statistical features are evaluated with a decoupling technique and compared with thresholds to make the decision on fault classification. The proposed evaluation method only requires simple algebraic computation, and the accuracy of fault classification can be analytically guaranteed in terms of the so-called false classification rate (FCR). An experiment is carried out to verify the effectiveness of the proposed method, where the unbalanced fault of rotor, inner race fault, outer race fault and ball fault of bearings are considered.

  17. [Corticobasal degeneration. The significance of clinical criteria for establishing the diagnosis].

    PubMed

    Feifel, E; Brenner, M; Teiwes, R; Lücking, C H; Deuschl, G

    1994-10-01

    Neuropathological studies show that about 20% of all patients suffering from an acinetic-rigid syndrome can not be given the diagnosis of idiopathic Parkinson's disease. Among these non-idiopathic Parkinson-syndromes the corticobasal degeneration (CBD) can be regarded as a separate disease entity. The pathological findings of moderate predominantly frontal and parietal cerebral atrophy, cortical Pick-cells and specific corticobasal inclusion bodies are considered valuable features which support the diagnosis. The clinical Characteristics of CBD are demonstrated in 3 patients including an acinetic-rigid syndrome, limb apraxia and "alien limb"-syndrome, as well as reflex myoclonus. Eye movement disorders, dementia and other rare symptoms may also be present. Electrophysiological reflex-testing helps to corroborate diagnosis. These findings and a summary which includes the previously published cases of CBD show that CBD in most cases can be diagnosed intra vitam. PMID:7808563

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

    PubMed

    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. PMID:24739531

  19. Venous compression syndromes: clinical features, imaging findings and management

    PubMed Central

    Liu, R; Oliveira, G R; Ganguli, S; Kalva, S

    2013-01-01

    Extrinsic venous compression is caused by compression of the veins in tight anatomic spaces by adjacent structures, and is seen in a number of locations. Venous compression syndromes, including Paget–Schroetter syndrome, Nutcracker syndrome, May–Thurner syndrome and popliteal venous compression will be discussed. These syndromes are usually seen in young, otherwise healthy individuals, and can lead to significant overall morbidity. Aside from clinical findings and physical examination, diagnosis can be made with ultrasound, CT, or MR conventional venography. Symptoms and haemodynamic significance of the compression determine the ideal treatment method. PMID:23908347

  20. Dementia pugilistica with clinical features of Alzheimer's disease.

    PubMed

    Areza-Fegyveres, Renata; Rosemberg, Sergio; Castro, Rosa Maria R P S; Porto, Claudia Sellitto; Bahia, Valéria Santoro; Caramelli, Paulo; Nitrini, Ricardo

    2007-09-01

    A 61-year-old ex-boxer presented with a three-year history of progressive memory decline. During a seven-year follow-up period, there was a continuous cognitive decline, very similar to that usually observed in Alzheimer's disease. Parkinsonian, pyramidal or cerebellar signs were conspicuously absent. Neuropathological examination revealed the typical features of dementia pugilistica: cavum septi pellucidi with multiple fenestrations, numerous neurofibrillary tangles in the cerebral isocortex and hippocampus (and rare senile plaques). Immunohistochemistry disclosed a high number of tau protein deposits and scarce beta-amyloid staining. This case shows that dementia pugilistica may present with clinical features practically undistinguishable from Alzheimer's disease. PMID:17952290

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

    PubMed

    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

  2. Clinical relevance of molecular diagnosis in pet allergy.

    PubMed

    Uriarte, S A; Sastre, J

    2016-07-01

    We describe the pattern of sensitisation to pet IgE components and its association with clinical symptoms. Hundred and fifty nine consecutive patients with rhinitis/asthma sensitised to dog, cat, and horse were recruited. Specific IgE to whole extracts and to pet recombinant allergens were performed. Only 5% of patients were monosensitised to animal allergens. Specific IgE to Can f 1 was significantly associated with persistent rhinitis, Can f 2 with asthma diagnosis, Can f 3 with moderate/severe rhinitis (M/S-R) and asthma diagnosis (AD), and Can f 5 with persistent and M/S-R. Positive IgE to Fel d 2 was significantly associated with M/S-R and AD, Equ c 1 with M/S-R and Equ c 3 with persistent rhinitis, AD and severe asthma. Sensitisation to ≥2 molecules or to pet albumins was associated with more severe respiratory symptoms. Molecular diagnosis in patients with pet allergy may also help clinicians to predict clinical symptoms and their severity. PMID:27108666

  3. Feature selection using genetic algorithm for breast cancer diagnosis: experiment on three different datasets

    PubMed Central

    Aalaei, Shokoufeh; Shahraki, Hadi; Rowhanimanesh, Alireza; Eslami, Saeid

    2016-01-01

    Objective(s): This study addresses feature selection for breast cancer diagnosis. The present process uses a wrapper approach using GA-based on feature selection and PS-classifier. The results of experiment show that the proposed model is comparable to the other models on Wisconsin breast cancer datasets. Materials and Methods: To evaluate effectiveness of proposed feature selection method, we employed three different classifiers artificial neural network (ANN) and PS-classifier and genetic algorithm based classifier (GA-classifier) on Wisconsin breast cancer datasets include Wisconsin breast cancer dataset (WBC), Wisconsin diagnosis breast cancer (WDBC), and Wisconsin prognosis breast cancer (WPBC). Results: For WBC dataset, it is observed that feature selection improved the accuracy of all classifiers expect of ANN and the best accuracy with feature selection achieved by PS-classifier. For WDBC and WPBC, results show feature selection improved accuracy of all three classifiers and the best accuracy with feature selection achieved by ANN. Also specificity and sensitivity improved after feature selection. Conclusion: The results show that feature selection can improve accuracy, specificity and sensitivity of classifiers. Result of this study is comparable with the other studies on Wisconsin breast cancer datasets. PMID:27403253

  4. Enteroviral encephalitis in children: clinical features, pathophysiology, and treatment advances

    PubMed Central

    Jain, Shikha; Patel, Bhupeswari; Bhatt, Girish Chandra

    2014-01-01

    Enteroviruses (EVs) have emerged as one of the important etiological agents as a causative organism for encephalitis, especially in children and adults. After the first report of EV encephalitis cases in 1950s, there have been increasing reports of regular outbreaks of EV encephalitis worldwide. Enteroviruses are RNA viruses of the family Picornaviridae that consists of more than 100 serotypes, which are characterized by a single positive-strand genomic RNA. The clinical features are pleomorphic and can be accompanied by mucocutaneous manifestations or isolated encephalitis only. The incidence of encephalitis in EV infection is reported to be about 3% and is associated with high mortality and morbidity. A number of newer therapeutic agents have been used in EV encephalitis with variable results. This review will focus on clinical features, pathophysiology, and newer treatment modality in EV encephalitis. PMID:25175874

  5. Clinical features and management of hereditary spastic paraplegia.

    PubMed

    Faber, Ingrid; Servelhere, Katiane R; Martinez, Alberto R M; D'Abreu, Anelyssa; Lopes-Cendes, Iscia; França-Jr, Marcondes C

    2014-03-01

    Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions. PMID:24676440

  6. Clinical Features and Developing Risks of Saphenous Vein Thrombophlebitis

    PubMed Central

    2016-01-01

    We evaluated the clinical features and the risks of 14 patients with 14 limbs affected by saphenous vein thrombophlebitis from April 2007 to May 2013 and compared the results with patients undergoing operative repair of varicose veins (127 patients, 193 limbs) during the study period. The frequency of patients with a body mass index over 25 (78.6% vs. 35.3%, p = 0.0018), varicose change in the saphenous vein (78.6% vs. 6.2%, p <0.0001), and concurrent thrombosis in another vein (50.0% vs. 7.1%, p <0.0001) were all significantly higher than those of the patients under operative repair for varicose veins. These patients with clinical features above may be at an elevated risk of thrombophlebitis of the saphenous trunk. (This article is a translation of J Jpn Coll Angiol 2014; 54: 151–157). PMID:27375800

  7. Sensory symptoms in Parkinson's disease: Clinical features, pathophysiology, and treatment.

    PubMed

    Zhu, Mingxin; Li, Man; Ye, Dawei; Jiang, Wei; Lei, Ting; Shu, Kai

    2016-08-01

    Parkinson's disease (PD) is one of the most common forms of neurodegenerative disease in the elderly population and is typically manifested by motor symptoms and nonmotor symptoms and signs. Nonmotor symptoms, such as sensory symptoms, have been regarded as the significant features of this disease. These symptoms often occur in early stages of PD and influence quality of life. However, researchers suggest that the sensory symptoms of PD are frequently unrecognized by clinicians and remain untreated. The disorders include pain, olfactory disturbance, and visual dysfunction input on the underlying sensory abnormality. This Review focuses on the clinical features, pathophysiological mechanisms, and treatment strategies for sensory symptoms of PD from both clinical studies and basic research, providing a comprehensive overview of the sensory symptoms in PD. © 2016 Wiley Periodicals, Inc. PMID:26948282

  8. [Clinical features of NMO according to brain MRI findings].

    PubMed

    Shimizu, Yuko

    2010-09-01

    Neuromyelitis optica (NMO) is a severe inflammatory, demyelinating disease, and its clinical characteristics include recurrent optic neuritis and longitudinally extensive transverse myelitis. The NMO-immunoglobulin (Ig) G auto-antibody (Ab), which binds to the aquaporin-4 (AQP4) water channel protein, is a marker for NMO. These clinical and immunological features have been used to distinguish NMO from multiple sclerosis (MS). In 1999, Wingerchuk et al. broadened the clinical criteria for diagnosing NMO to include "negative brain magnetic resonance imaging (MRI) at onset." However, after NMO-IgG/AQP4-Ab became a supportive criterion for diagnosing NMO, patients with NMO were frequently found to have symptomatic or asymptomatic brain lesions. In 2006, Pittock et al. reported that asymptomatic brain lesions were common in NMO, and that NMO brain lesions characteristically occurred in the hypothalamus and periventricular areas, which correspond to brain regions with high levels of AQP4 expression. Furthermore, Nakashima et al. detected abnormalities on brain MRI in 71% of NMO-IgG-positive Japanese patients. Patients with NMO have unique brain lesions that are clearly different from the lesions of patients with MS. In patients with NMO, involvement of the dorsal portion of the medulla oblongata causes intractable hiccups and nausea. Some studies described a hypothalamic lesion, and hypothalamic dysfunction could cause symptomatic hypersomnia, narcolepsy, and endocrinopathies. In some patients with NMO and NMO spectrum disorder who experience blood pressure fluctuations, vasogenic edema, manifesting as posterior reversible encephalopathy syndrome, may occur. In a recent report highlighting brain MRI with contrast enhancement, the most prominent feature that appeared to be a specific finding in NMO was "cloud-like enhancement" with multiple patchy enhancing lesions with a blurred margin. Another report showed that acute, large, edematous callosal lesions with

  9. The clinical features and management of pituitary apoplexy.

    PubMed Central

    Lloyd, M. H.; Belchetz, P. E.

    1977-01-01

    The clinical features and management of three patients presenting with pituitary apoplexy are described. They illustrate the difficulty of differentiating pituitary apoplexy from other acute neurologic conditions. One of the patients is the first reported case of pituitary apoplexy occurring in a histologically proved craniopharyngioma. Two of the cases reported were treated conservatively and recovered without seriouplexy as a neurosurgical emergency. The relationship between radiotherapy and pituitary apoplexy is discussed. PMID:876925

  10. Ocular features in Alport syndrome: pathogenesis and clinical significance.

    PubMed

    Savige, Judy; Sheth, Shivanand; Leys, Anita; Nicholson, Anjali; Mack, Heather G; Colville, Deb

    2015-04-01

    Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and temporal retinal thinning. Typically, these features do not affect vision or, in the case of lenticonus, are correctable. In contrast, the rarer ophthalmic complications of posterior polymorphous corneal dystrophy, giant macular hole, and maculopathy all produce visual loss. Many of the ocular features of Alport syndrome are common, easily recognizable, and thus, helpful diagnostically, and in identifying the likelihood of early-onset renal failure. Lenticonus and central fleck retinopathy strongly suggest the diagnosis of Alport syndrome and are associated with renal failure before the age of 30 years, in males with X-linked disease. Sometimes, ophthalmic features suggest the mode of inheritance. A peripheral retinopathy in the mother of a male with hematuria suggests X-linked inheritance, and central retinopathy or lenticonus in a female means that recessive disease is likely. Ocular examination, retinal photography, and optical coherence tomography are widely available, safe, fast, inexpensive, and acceptable to patients. Ocular examination is particularly helpful in the diagnosis of Alport syndrome when genetic testing is not readily available or the results are inconclusive. It also detects complications, such as macular hole, for which new treatments are emerging. PMID:25649157

  11. Severe scrub typhus infection: Clinical features, diagnostic challenges and management.

    PubMed

    Peter, John Victor; Sudarsan, Thomas I; Prakash, John Anthony J; Varghese, George M

    2015-08-01

    Scrub typhus infection is an important cause of acute undifferentiated fever in South East Asia. The clinical picture is characterized by sudden onset fever with chills and non-specific symptoms that include headache, myalgia, sweating and vomiting. The presence of an eschar, in about half the patients with proven scrub typhus infection and usually seen in the axilla, groin or inguinal region, is characteristic of scrub typhus. Common laboratory findings are elevated liver transaminases, thrombocytopenia and leukocytosis. About a third of patients admitted to hospital with scrub typhus infection have evidence of organ dysfunction that may include respiratory failure, circulatory shock, mild renal or hepatic dysfunction, central nervous system involvement or hematological abnormalities. Since the symptoms and signs are non-specific and resemble other tropical infections like malaria, enteric fever, dengue or leptospirosis, appropriate laboratory tests are necessary to confirm diagnosis. Serological assays are the mainstay of diagnosis as they are easy to perform; the reference test is the indirect immunofluorescence assay (IFA) for the detection of IgM antibodies. However in clinical practice, the enzyme-linked immuno-sorbent assay is done due to the ease of performing this test and a good sensitivity and sensitivity when compared with the IFA. Paired samples, obtained at least two weeks apart, demonstrating a ≥ 4 fold rise in titre, is necessary for confirmation of serologic diagnosis. The mainstay of treatment is the tetracycline group of antibiotics or chloramphenicol although macrolides are used alternatively. In mild cases, recovery is complete. In severe cases with multi-organ failure, mortality may be as high as 24%. PMID:26261776

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

    PubMed

    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

  13. [Clinical diversity, diagnosis and treatment of hereditary amyloid neuropathy].

    PubMed

    Sekijima, Yoshiki

    2014-01-01

    Hereditary amyloid neuropathy includes hereditary ATTR, hereditary AGel, hereditary AApoAI, and hereditary Aβ2M amyloidosis. Among these diseases, hereditary ATTR is the most common type of amyloidosis caused by mutation in the transthyretin (TTR) gene. Hereditary ATTR amyloidosis is a life-threatening, multi-symptom, gain-of-toxic-function disease that may present with peripheral neuropathy, autonomic neuropathy, cardiomyopathy, ophthalmopathy, and/or leptomeningeal amyloidosis. In addition to the clinical symptoms described above, proven amyloid deposition in biopsy specimens and identification of disease-causing mutations in the TTR gene are necessary to establish the diagnosis. Deposition of amyloid in tissue can be demonstrated by Congo red staining of biopsy materials. Liver transplantation has been shown to be an effective therapeutic strategy for ameliorating hereditary ATTR amyloidosis, however, large numbers of patients are not suitable transplant candidates because of their age and/or advanced disease status. Recently, the clinical effects of TTR tetramer stabilizers, tafamidis and diflunisal, were demonstrated in randomised clinical trials, and tafamidis has been approved for the treatment of hereditary ATTR amyloidosis in European countries and in Japan. With the availability of disease-modifying therapies, early diagnosis and therapy become increasingly important in ATTR amyloidosis. PMID:25672679

  14. Development and assessment of a clinically viable system for breast ultrasound computer-aided diagnosis

    NASA Astrophysics Data System (ADS)

    Gruszauskas, Nicholas Peter

    The chances of surviving a breast cancer diagnosis as well as the effectiveness of any potential treatments increase significantly with early detection of the disease. As such, a considerable amount of research is being conducted to augment the breast cancer detection and diagnosis process. One such area of research involves the investigation and application of sophisticated computer algorithms to assist clinicians in detecting and diagnosing breast cancer on medical images (termed generally as "computer-aided diagnosis" or CAD). This study investigated a previously-developed breast ultrasound CAD system with the intent of translating it into a clinically-viable system. While past studies have demonstrated that breast ultrasound CAD may be a beneficial aid during the diagnosis of breast cancer on ultrasound, there are no investigations concerning its potential clinical translation and there are currently no commercially-available implementations of such systems. This study "bridges the gap" between the laboratory-developed system and the steps necessary for clinical implementation. A novel observer study was conducted that mimicked the clinical use of the breast ultrasound CAD system in order to assess the impact it had on the diagnostic performance of the user. Several robustness studies were also performed: the sonographic features used by the system were evaluated and the databases used for calibration and testing were characterized, the effect of the user's input was assessed by evaluating the performance of the system with variations in lesion identification and image selection, and the performance of the system on different patient populations was investigated by evaluating its performance on a database consisting solely of patients with Asian ethnicity. The analyses performed here indicate that the breast ultrasound CAD system under investigation is robust and demonstrates only minor variability when subjected to "real-world" use. All of these results are

  15. Multi-feature fusion diagnosis for optoelectronic tracking devices using fuzzy measurement

    NASA Astrophysics Data System (ADS)

    Zhang, Yong; Zhang, Tianyong; Zhang, Xianming; Xiao, Jing

    2010-10-01

    With the rapid development of optoelectronic tracking and measurement technology, tracking equipments become more complex and more precise, and the system faults happen at higher probability. The fault orientation, the fault analysis and the fault exclusion change more difficult. The single information and the simple process of multi-information have many deficiencies, which need fusion to improve the reliability. The D-S theory of evidence is a way to resolve the uncertain problems, which fuses evidences to reason the decision results in the same recognition frame used at the decisional level. Using the D-S theory of evidence, a diagnosis frame of multi-feature information fusion is proposed. The deviation ranks of the fault characters is defined according to their offsets from the normal and their happening probabilities were also computed by using the statistical results and the existing knowledge. The data reasoning of rough set theory is employed to construct the key fault evidence space from the multi features. Further, Gaussian subjection function from the fuzzy theory is used to describe the distribution of the key evidences and the distribution of the test data, and the basic probabilities of the evidence are weighed by the matching degree of the two distributions. The multiperiod and space feature information are employed and fused, and the final diagnosis decision is made by some effective methods. A multi-feature information fusion diagnosis for the servo system of the tracking equipment is discussed. The test shows that the diagnosis reliability is improved and the diagnosis uncertainty is reduced, and the fault diagnosis for the precise device and other parts are also effectively resolved by using this fusion method.

  16. Correlations Between Histopathologic Changes and Clinical Features in Pterygia

    PubMed Central

    Safi, Hamid; Kheirkhah, Ahmad; Mahbod, Mirgholamreza; Molaei, Saber; Hashemi, Hassan; Jabbarvand, Mahmoud

    2016-01-01

    Purpose: To investigate the correlations between clinical findings and histopathologic changes in eyes with pterygium. Methods: This prospective study included 70 eyes with primary pterygia undergoing surgical excision. Prior to surgery, clinical features of the pterygia including extension over the cornea, redness, fleshiness (based on obscuration of the underlying episcleral vessels), and obliteration of the plica semilunaris were determined. Postoperatively, pterygium specimens were examined by hematoxylin-eosin and trichrome staining to evaluate histopathologic characteristics including vascular density, leukocytic infiltration, stromal elastosis, stromal fibrosis and subepithelial fibrosis. Correlations between clinical findings and histopathologic changes were then investigated. Results: There was a marginally significant correlation between the redness and the fleshiness of pterygium (P = 0.06). Both redness and fleshiness of the pterygium had significant positive correlation with dimensions of the lesion over the cornea. Moreover, larger pterygia were associated with obliteration of the plica semilunaris. Pterygium redness showed a significant correlation with vascular density (P = 0.04), and pterygium fleshiness had a significant correlation with stromal fibrosis (P = 0.04). Pterygium dimensions over the cornea demonstrated a positive correlation with vascular density and a negative correlation with stromal elastosis. Conclusion: Redness and fleshiness of pterygium were only marginally correlated with each other, and each one showed a correlation with different histopathologic features. Larger pterygia were associated with more significant changes at the clinical and histopathologic levels.

  17. Clinical features of avian vacuolar myelinopathy in American coots

    USGS Publications Warehouse

    Larsen, R.S.; Nutter, F.B.; Augspurger, T.; Rocke, T.E.; Tomlinson, L.; Thomas, N.J.; Stoskopf, M.K.

    2002-01-01

    Objectivea??To characterize clinical features of avian vacuolar myelinopathy (AVM) in American coots. Designa??Case-control study. Animalsa??26 AVM-affected American coots and 12 unaffected coots. Proceduresa??Complete physical, neurologic, hematologic, and plasma biochemical evaluations were performed. Affected coots received supportive care. All coots died or were euthanatized, and AVM status was confirmed via histopathologic findings. Resultsa??3 severely affected coots were euthanatized immediately after examination. Seventeen affected coots were found dead within 7 days of admission, but 5 affected coots survived > 21 days and had signs of clinical recovery. Abnormal physical examination findings appeared to be related to general debilitation. Ataxia (88%), decreased withdrawal reflexes (88%), proprioceptive deficits (81%), decreased vent responses (69%), beak or tongue weakness (42%), and head tremors (31%), as well as absent pupillary light responses (46%), anisocoria (15%), apparent blindness (4%), nystagmus (4%), and strabismus (4%) were detected. Few gross abnormalities were detected at necropsy, but histologically, all AVM-affected coots had severe vacuolation of white matter of the brain. None of the control coots had vacuolation. Conclusions and Clinical Relevancea??Although there was considerable variability in form and severity of clinical neurologic abnormalities, clinical signs common in AVM-affected birds were identified. Clinical recovery of some AVM-affected coots can occur when supportive care is administered. Until the etiology is identified, caution should be exercised when rehabilitating and releasing coots thought to be affected by AVM.

  18. Cranial dystonia, blepharospasm and hemifacial spasm: clinical features and treatment, including the use of botulinum toxin.

    PubMed Central

    Kraft, S P; Lang, A E

    1988-01-01

    Blepharospasm, the most frequent feature of cranial dystonia, and hemifacial spasm are two involuntary movement disorders that affect facial muscles. The cause of blepharospasm and other forms of cranial dystonia is not known. Hemifacial spasm is usually due to compression of the seventh cranial nerve at its exit from the brain stem. Cranial dystonia may result in severe disability. Hemifacial spasm tends to be much less disabling but may cause considerable distress and embarrassment. Patients affected with these disorders are often mistakenly considered to have psychiatric problems. Although the two disorders are quite distinct pathophysiologically, therapy with botulinum toxin has proven very effective in both. We review the clinical features, proposed pathophysiologic features, differential diagnosis and treatment, including the use of botulinum toxin, of cranial dystonia and hemifacial spasm. Images Fig. 2 Fig. 3 PMID:3052771

  19. A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis

    PubMed Central

    Brady, Stefen; Squier, Waney; Sewry, Caroline; Hanna, Michael; Hilton-Jones, David; Holton, Janice L

    2014-01-01

    Objective The current pathological diagnostic criteria for sporadic inclusion body myositis (IBM) lack sensitivity. Using immunohistochemical techniques abnormal protein aggregates have been identified in IBM, including some associated with neurodegenerative disorders. Our objective was to investigate the diagnostic utility of a number of markers of protein aggregates together with mitochondrial and inflammatory changes in IBM. Design Retrospective cohort study. The sensitivity of pathological features was evaluated in cases of Griggs definite IBM. The diagnostic potential of the most reliable features was then assessed in clinically typical IBM with rimmed vacuoles (n=15), clinically typical IBM without rimmed vacuoles (n=9) and IBM mimics—protein accumulation myopathies containing rimmed vacuoles (n=7) and steroid-responsive inflammatory myopathies (n=11). Setting Specialist muscle services at the John Radcliffe Hospital, Oxford and the National Hospital for Neurology and Neurosurgery, London. Results Individual pathological features, in isolation, lacked sensitivity and specificity. However, the morphology and distribution of p62 aggregates in IBM were characteristic and in a myopathy with rimmed vacuoles, the combination of characteristic p62 aggregates and increased sarcolemmal and internal major histocompatibility complex class I expression or endomysial T cells were diagnostic for IBM with a sensitivity of 93% and specificity of 100%. In an inflammatory myopathy lacking rimmed vacuoles, the presence of mitochondrial changes was 100% sensitive and 73% specific for IBM; characteristic p62 aggregates were specific (91%), but lacked sensitivity (44%). Conclusions We propose an easily applied diagnostic algorithm for the pathological diagnosis of IBM. Additionally our findings support the hypothesis that many of the pathological features considered typical of IBM develop later in the disease, explaining their poor sensitivity at disease presentation and

  20. Clinicopathologic Features and Clinical Outcomes of Esophageal Gastrointestinal Stromal Tumor

    PubMed Central

    Feng, Fan; Tian, Yangzi; Liu, Zhen; Xu, Guanghui; Liu, Shushang; Guo, Man; Lian, Xiao; Fan, Daiming; Zhang, Hongwei

    2016-01-01

    Abstract Clinicopathologic features and clinical outcomes of gastrointestinal stromal tumors (GISTs) in esophagus are limited, because of the relatively rare incidence of esophageal GISTs. Therefore, the aim of the current study was to investigate the clinicopathologic features and clinical outcomes of esophageal GISTs, and to investigate the potential factors that may predict prognosis. Esophageal GIST cases were obtained from our center and from case reports and clinical studies extracted from MEDLINE. Clinicopathologic features and survivals were analyzed and compared with gastric GISTs from our center. The most common location was lower esophagus (86.84%), followed by middle and upper esophagus (11.40% and 1.76%). The majority of esophageal GISTs were classified as high-risk category (70.83%). Mitotic index was correlated with histologic type, mutational status, and tumor size. The 5-year disease-free survival and disease-specific survival were 65.1% and 65.9%, respectively. Tumor size, mitotic index, and National Institutes of Health risk classification were associated with prognosis of esophageal GISTs. Only tumor size, however, was the independent risk factor for the prognosis of esophageal GISTs. In comparison to gastric GISTs, the distribution of tumor size, histologic type, and National Institutes of Health risk classification were significantly different between esophageal GISTs and gastric GISTs. The disease-free survival and disease-specific survival of esophageal GISTs were significantly lower than that of gastric GISTs. The most common location for esophageal GISTs was lower esophagus, and most of the esophageal GISTs are high-risk category. Tumor size was the independent risk factor for the prognosis of esophageal GISTs. Esophageal GISTs differ significantly from gastric GISTs in respect to clinicopathologic features. The prognosis of esophageal GISTs was worse than that of gastric GISTs. PMID:26765432

  1. AB124. Mucolipidosis type II: clinical features and laboratories

    PubMed Central

    Can, Ngoc Thi Bich; Vu, Dung Chi; Bui, Thao Phuong; Nguyen, Khanh Ngoc; Hwu, Wuh-Liang

    2015-01-01

    Background I-cell disease (Mucolipidosis II) is a rare lysosomal storage disorder caused by the deficiency of N-acetylglucosamine-l-phosphotransferase, an enzyme that transfers phosphate groups onto oligosaccharide units of lysosomal enzyme precursors. Due to the absence of transferase activity, the common phosphomannose recognition marker of acid hydrolases is not generated, and the enzymes are not targeted to the lysosomes I. As a consequence the enzymes are secreted into the extracellular space, and high activities can be found in the serum, cerebrospinal fluid and urine of the patients, whereas inside the cells (fibroblasts) the enzyme levels are considerably reduced. Mucolipidosis is also known as I-cell disease because of the coarse granular cytoplasmic inclusions seen in cultured skin fibroblasts which are large lysosomes containing heterogeneous material. Objective To describe clinical features and enzyme activity of patients with mucolipidosis type II. Methods Clinical features, laboratory and plasma lysosom enzyme activity by four MU-Fluorometric assay was study. Results and conclusions Sixteen cases (seven girls and nine boys) onset at 5.93±4.28 years of age the onset age of 2.3±3.1 years (median 1.25) with the feature of joint stiffness and bone deformation. 100% cases admitted with the feature of joint stiffness, chest deformation and kyphoscoliosis, 93.3% coarse facial features. No patients had hepatosplenomegaly on ultrasound, 5/15 patients had heart valves disease. Enzyme assay showed α-Hexosaminidase of 1,885.98±338.7 nmoL/mg plasma/17 h, α-Iduronate sulfatase of 4,534.78±1,062.97 nmoL/mg plasma/4 h. Mucolipidosis has seriously affected the life of the patients.

  2. Lymphoscintigraphy to confirm the clinical diagnosis of lymphedema

    SciTech Connect

    Golueke, P.J.; Montgomery, R.A.; Petronis, J.D.; Minken, S.L.; Perler, B.A.; Williams, G.M. )

    1989-09-01

    Confirmation of the diagnosis of lymphedema often requires lymphangiography, a procedure that is painful for the patient and technically demanding. Radioisotope lymphoscintigraphy is a relatively new technique that uses technetium 99 m antimony trisulfide colloid to produce a diagnostic image similar to a lymphangiogram. The procedure requires a single subcutaneous injection in the involved extremity, and images are obtained 3 hours later. It is technically easy to perform, produces minimal discomfort for the patient, and has no adverse effects. We have recently used radioisotope lymphoscintigraphy to evaluate 17 patients with extremity edema. These patients initially had a presumed diagnosis of lymphedema involving the upper or lower extremity. Lymphoscintigraphy confirmed the diagnosis of lymphedema in 12 (70.6%) patients. In five of the 17 patients (29.4%) the clinical impression of lymphedema was not supported by lymphoscintigraphy, leading to alternative diagnoses such as lipomatosis, venous insufficiency (two patients), congestive heart failure, and disuse edema. In all patients with secondary lymphedema the lymphatic system in the involved extremity could be partially visualized. Conversely, three of four patients with primary lymphedema had no ascent of the tracer from the foot and no lymphatic channels could be visualized. Lymphoscintigraphy is relatively easy to perform, safe, minimally invasive, and not uncomfortable for the patient. It is useful in differentiating lymphedema from other causes of extremity edema, allowing institution of appropriate therapy.

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

    PubMed

    Kishimoto, Takumi; Fujimoto, Nobukazu; Nishi, Hideyuki

    2016-05-01

    For the differential diagnosis between fibrous pleuritis and other malignancies such as lung cancer, multiple immunostaining is essential to diagnose pleural mesothelioma. For cytological diagnosis of pleural effusions, differentiation between mesothelioma cells and reactive mesothelial cells is very difficult. Therefore, histological diagnoses of tumor tissues obtained via biopsy are essential. To diagnose epthelioid mesothelioma, more than 2 positive and negative markers must be consistent with those known for mesothelioma. To diagnose sarcomatoid mesothelioma, keratin is usually positive, differentiating the diagnosis from that for real sarcoma. For surgical treatment for pleural mesothelioma, extrapleural pneumonectomy (EPP) and pleurectomy/decortication (P/D) are usually performed. The proportion of P/D increases because of the low death rates with surgery and similar survivals. However, a trimodal approach, such as EPP with chemotherapy and radiotherapy, is best for longer survival and expected to be curative. For chemotherapy, only cisplatin (CDDP) combined with pemetrexed (PEM) is effective, and no other agents have been identified for this disease. Nowadays, clinical immunotherapy trials start with phase II study. PMID:27210080

  4. Environmental Enteric Dysfunction: Pathogenesis, Diagnosis, and Clinical Consequences

    PubMed Central

    Keusch, Gerald T.; Denno, Donna M.; Black, Robert E.; Duggan, Christopher; Guerrant, Richard L.; Lavery, James V.; Nataro, James P.; Rosenberg, Irwin H.; Ryan, Edward T.; Tarr, Phillip I.; Ward, Honorine; Bhutta, Zulfiqar A.; Coovadia, Hoosen; Lima, Aldo; Ramakrishna, Balakrishnan; Zaidi, Anita K. M.; Hay Burgess, Deborah C.; Brewer, Thomas

    2014-01-01

    Stunting is common in young children in developing countries, and is associated with increased morbidity, developmental delays, and mortality. Its complex pathogenesis likely involves poor intrauterine and postnatal nutrition, exposure to microbes, and the metabolic consequences of repeated infections. Acquired enteropathy affecting both gut structure and function likely plays a significant role in this outcome, especially in the first few months of life, and serve as a precursor to later interactions of infection and malnutrition. However, the lack of validated clinical diagnostic criteria has limited the ability to study its role, identify causative factors, and determine cost-effective interventions. This review addresses these issues through a historical approach, and provides recommendations to define and validate a working clinical diagnosis and to guide critical research in this area to effectively proceed. Prevention of early gut functional changes and inflammation may preclude or mitigate the later adverse vicious cycle of malnutrition and infection. PMID:25305288

  5. Melanocytic nevi with special features: clinical-dermoscopic and reflectance confocal microscopic-findings.

    PubMed

    Larre Borges, A; Zalaudek, I; Longo, C; Dufrechou, L; Argenziano, G; Lallas, A; Piana, S; Moscarella, E

    2014-07-01

    Histopathology is considered the 'gold' standard for the diagnosis and classification of melanocytic nevi, but the widespread use of in vivo diagnostic technologies such as dermoscopy and reflectance confocal microscopy (RCM), has enriched profoundly the knowledge regarding the morphological variability in nevi. This is because most morphological observations made via these in vivo tools are closely correlated with features seen in histopathology. Dermoscopy has allowed for a more detailed classification of nevi. As such, dermoscopy identifies four main morphologic groups (i.e. globular, reticular, starburst and structureless blue nevi), one group of nevi located at special body sites (i.e. face, acral, nail) and one group of nevi with special features. This latter category consists of nevi of the former categories, which are typified by peculiar clinical-histopathological findings. They can be subdivided into 'melanoma simulators' including combined nevi, recurrent nevi and sclerosing nevus with pseudomelanomatous features, 'targetoid' nevi (i.e. halo, cockade, irritated targetoid haemosiderotic and eczematous nevus) and uncommon histopathological variants such as desmoplastic, white dysplastic or ballon cell nevus. While the dermoscopic and RCM patterns of the former categories have been studied in detail, little is currently known about the clinical morphology of the heterogeneous group of 'special' nevi. In this article, we describe the clinical, dermoscopic and RCM features of 'special' nevi and review the current literature on this group of melanocytic proliferations. PMID:24171788

  6. Clinical features and multidisciplinary approaches to dementia care

    PubMed Central

    Grand, Jacob HG; Caspar, Sienna; MacDonald, Stuart WS

    2011-01-01

    Dementia is a clinical syndrome of widespread progressive deterioration of cognitive abilities and normal daily functioning. These cognitive and behavioral impairments pose considerable challenges to individuals with dementia, along with their family members and caregivers. Four primary dementia classifications have been defined according to clinical and research criteria: 1) Alzheimer’s disease; 2) vascular dementias; 3) frontotemporal dementias; and 4) dementia with Lewy bodies/Parkinson’s disease dementia. The cumulative efforts of multidisciplinary healthcare teams have advanced our understanding of dementia beyond basic descriptions, towards a more complete elucidation of risk factors, clinical symptoms, and neuropathological correlates. The characterization of disease subtypes has facilitated targeted management strategies, advanced treatments, and symptomatic care for individuals affected by dementia. This review briefly summarizes the current state of knowledge and directions of dementia research and clinical practice. We provide a description of the risk factors, clinical presentation, and differential diagnosis of dementia. A summary of multidisciplinary team approaches to dementia care is outlined, including management strategies for the treatment of cognitive impairments, functional deficits, and behavioral and psychological symptoms of dementia. The needs of individuals with dementia are extensive, often requiring care beyond traditional bounds of medical practice, including pharmacologic and non-pharmacologic management interventions. Finally, advanced research on the early prodromal phase of dementia is reviewed, with a focus on change-point models, trajectories of cognitive change, and threshold models of pathological burden. Future research goals are outlined, with a call to action for social policy initiatives that promote preventive lifestyle behaviors, and healthcare programs that will support the growing number of individuals affected by

  7. Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

    PubMed

    Parkinson, Michael H; Boesch, Sylvia; Nachbauer, Wolfgang; Mariotti, Caterina; Giunti, Paola

    2013-08-01

    One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative ataxic syndrome which bears his name, his description remains at the core of the classical clinical phenotype of gait and limb ataxia, poor balance and coordination, leg weakness, sensory loss, areflexia, impaired walking, dysarthria, dysphagia, eye movement abnormalities, scoliosis, foot deformities, cardiomyopathy and diabetes. Onset is typically around puberty with slow progression and shortened life-span often related to cardiac complications. Inheritance is autosomal recessive with the vast majority of cases showing an unstable intronic GAA expansion in both alleles of the frataxin gene on chromosome 9q13. A small number of cases are caused by a compound heterozygous expansion with a point mutation or deletion. Understanding of the underlying molecular biology has enabled identification of atypical phenotypes with late onset, or atypical features such as retained reflexes. Late-onset cases tend to have slower progression and are associated with smaller GAA expansions. Early-onset cases tend to have more rapid progression and a higher frequency of non-neurological features such as diabetes, cardiomyopathy, scoliosis and pes cavus. Compound heterozygotes, including those with large deletions, often have atypical features. In this paper, we review the classical and atypical clinical phenotypes of Friedreich's ataxia. PMID:23859346

  8. Recurrent Wernicke's Encephalopathy in a 16-Year-Old Girl with Atypical Clinical and Radiological Features

    PubMed Central

    Lamdhade, S.; Almulla, A.; Alroughani, R.

    2014-01-01

    Background. Wernicke's Encephalopathy (WE) is a clinical diagnosis with serious neurological consequences. Its occurrence is underestimated in nonalcoholics and is uncommon in adolescents. We aim to draw the attention to a rare case, which had additional clinical and radiological features. Case. A 16-year-old girl presented with three-week history of vomiting secondary to intestinal obstruction. She developed diplopia soon after hospitalization. Neurological evaluation revealed restriction of bilateral lateral recti with horizontal nystagmus, and bilateral limb dysmetria. Brain MRI was normal. She had prompt improvement to thiamine. Four months later, she presented with headache, bilateral severe deafness, and tinnitus. Clinically, she had severe sensorineural hearing loss, bilateral lateral recti paresis, and gait ataxia. CT head showed bilateral caudate nucleus hypodensities. MRI brain revealed gadolinium enhancement of mamillary bodies and vermis. She had significant improvement after IV thiamine. Headache completely resolved while the ocular movements, hearing, and tinnitus improved partially in 72 hours. Conclusions. Recurrent WE in adolescence is uncommon. Headache, tinnitus, and deafness are rare clinical features. Although MRI study shows typical features of WE, the presence of bilateral caudate nuclei hypodensities on CT scan is uncommon. Prompt treatment with thiamine is warranted in suspected cases to prevent permanent neurological sequelae. PMID:24790762

  9. Image processing based automatic diagnosis of glaucoma using wavelet features of segmented optic disc from fundus image.

    PubMed

    Singh, Anushikha; Dutta, Malay Kishore; ParthaSarathi, M; Uher, Vaclav; Burget, Radim

    2016-02-01

    Glaucoma is a disease of the retina which is one of the most common causes of permanent blindness worldwide. This paper presents an automatic image processing based method for glaucoma diagnosis from the digital fundus image. In this paper wavelet feature extraction has been followed by optimized genetic feature selection combined with several learning algorithms and various parameter settings. Unlike the existing research works where the features are considered from the complete fundus or a sub image of the fundus, this work is based on feature extraction from the segmented and blood vessel removed optic disc to improve the accuracy of identification. The experimental results presented in this paper indicate that the wavelet features of the segmented optic disc image are clinically more significant in comparison to features of the whole or sub fundus image in the detection of glaucoma from fundus image. Accuracy of glaucoma identification achieved in this work is 94.7% and a comparison with existing methods of glaucoma detection from fundus image indicates that the proposed approach has improved accuracy of classification. PMID:26574297

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

    PubMed

    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