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Sample records for korea clinical features

  1. Clinical Features and Awareness of Hand Eczema in Korea

    PubMed Central

    Park, Jae Beom; Lee, Seung Ho; Kim, Kea Jeung; Lee, Ga-Young; Yang, Jun-Mo; Kim, Do Won; Lee, Seok Jong; Lee, Cheol Heon; Park, Eun Joo; Kim, Kyu Han; Eun, Hee Chul; Chang, Sung Eun; Moon, Kee Chan; Kim, Seong Hyun; Kim, Seong Jin; Kim, Byung-Soo; Lee, Jun Young; Kim, Hyung-Ok; Kang, Hoon; Lee, Min Geol; Kim, Soo-Chan; Ro, Young Suck; Ko, Joo Yeon; Park, Mi Youn; Kim, Myung Hwa; Shin, Jeong Hyun; Choi, Hae Young; Hong, Chang Kwun; Lee, Sung Yul; Bak, Hana

    2016-01-01

    Background Hand eczema is one of the most common skin disorders and negatively affects quality of life. However, a large-scale multicenter study investigating the clinical features of patients with hand eczema has not yet been conducted in Korea. Objective To identify the prevalence of various hand diseases, which is defined as all cutaneous disease occurring in hands, and to investigate the clinical features of patients with hand eczema and the awareness about hand eczema in the general population and to compare the prevalence of hand eczema between health care providers and non-health care providers. Methods To estimate the prevalence of hand diseases, we analyzed the medical records of patients from 24 medical centers. Patients were assessed by online and offline questionnaires. A 1,000 from general population and 913 hand eczema patients answered the questionnaire, for a total of 1,913 subjects. Results The most common hand disease was irritant contact dermatitis. In an online survey, the lifetime prevalence of hand eczema was 31.2%. Hand eczema was more likely to occur in females (66.0%) and younger (20~39 years, 53.9%). Health care providers and housewives were the occupations most frequently associated with hand eczema. Winter (33.6%) was the most common season which people experienced aggravation. The 63.0% and 67.0% answered that hand eczema hinders their personal relationship and negatively affects daily living activities, respectively. Conclusion Hand eczema is a very common disease and hinders the quality of life. The appropriate identification of hand eczema is necessary to implement effective and efficient treatment. PMID:27274632

  2. Clinical Features of Cluster Headache Patients in Korea

    PubMed Central

    2017-01-01

    Cluster headache (CH) is a rare underdiagnosed primary headache disorder with very severe unilateral pain and autonomic symptoms. Clinical characteristics of Korean patients with CH have not yet been reported. We analyzed the clinical features of CH patients from 11 university hospitals in Korea. Among a total of 200 patients with CH, only 1 patient had chronic CH. The average age of CH patients was 38.1 ± 8.9 years (range 19–60 years) and the average age of onset was 30.7 ± 10.3 years (range 10–57 years). The male-to-female ratio was 7:1 (2.9:1 among teen-onset and 11.7:1 among twenties-onset). Pain was very severe at 9.3 ± 1.0 on the visual analogue scale. The average duration of each attack was 100.6 ± 55.6 minutes and a bout of CH lasted 6.5 ± 4.5 weeks. Autonomic symptoms were present in 93.5% and restlessness or agitation was present in 43.5% of patients. Patients suffered 3.0 ± 3.5 (range 1–25) bouts over 7.3 ± 6.7 (range 1–30) years. Diurnal periodicity and season propensity were present in 68.5% and 44.0% of patients, respectively. There were no sex differences in associated symptoms or diurnal and seasonal periodicity. Korean CH patients had a high male-to-female ratio, relatively short bout duration, and low proportion of chronic CH, unlike CH patients in Western countries. PMID:28145655

  3. Epidemiological features and clinical manifestations of Lyme borreliosis in Korea during the period 2005-2012.

    PubMed

    Moon, Shinje; Hong, Yeongseon; Hwang, Kyu-Jam; Kim, Suyeon; Eom, Jihye; Kwon, Donghyok; Park, Ji-Hyuk; Youn, Seung-Ki; Sohn, Aeree

    2015-01-01

    Lyme borreliosis is one of the most common tick-borne infections in the northern hemisphere. However, the epidemiological features and clinical manifestations of this disease in Korea are unknown. The present study is the first to investigate the characteristics of Lyme borreliosis in Korea. We traced suspected cases of Lyme borreliosis during the period 2005-2012. Of the 16 identified patients with the disease, 11 had acquired autochthonous infection within Korea, while 5 patients were infected outside Korea. The history of past exposure was investigated in 8 of the 11 patients with autochthonous infection; 5 of these 8 patients (62.5%) were suspected to have acquired the infection in the northeastern alpine region. Clinically, of 11 patients with autochthonous infection, 6 (54.5%) showed early skin manifestations, 4 (36.4%) showed neurological manifestations, and 1 (9.1%) showed acrodermatitis chronica atrophicans. In conclusion, Lyme borreliosis could be endemic in the northeastern alpine region of Korea, and neurological and early skin manifestations are likely to be the major clinical characteristics of autochthonous Lyme borreliosis in Korea.

  4. Clinical Features and Outcomes of Patients With Genotype 3 Hepatitis C Virus Infection in Korea

    PubMed Central

    Cha, Ra Ri; Lee, Sang Soo; Lee, Chang Min; Ji, Sung Bok; Jung, Hee Cheul; Cho, Hyun Chin; Kim, Jin Joo; Lee, Jae Min; Kim, Hong Jun; Ha, Chang Yoon; Kim, Hyun Jin; Kim, Tae-Hyo; Jung, Woon Tae; Lee, Ok-Jae

    2016-01-01

    Abstract Hepatitis C virus (HCV) genotype 3 infection is very rare in high-income Asia Pacific. The aim of our retrospective observational study was to evaluate the incidence, clinical features, and treatment outcomes of patients with a genotype 3 HCV infection in the Gyeongnam Province of Korea. Ninety-eight consecutive patients diagnosed with a genotype 3 HCV infection at Gyeongsang National University Hospital, between January 2005 and December 2014, were enrolled into the study. Relevant characteristics of the study group included: 80.6% men, mean age of 41.8 years, and including 69 patients with chronic hepatitis, 25 with liver cirrhosis, and 4 with hepatocellular carcinoma (HCC). Risk factors for HCV infection, sustained virologic response rate, development of HCC, and mortality in patients with genotype 3 were retrospectively analyzed. Among all patients diagnosed with a HCV infection during the study period, the prevalence of genotype 3 was 7.3%. The incidence of genotype 3 was higher in young patients with a risk factor of IVDU (54.0%) and tattooing (62.3%). Among 45 treatment-naive genotype 3 patients, sustained virologic response was achieved with a combination of pegylated-interferon alpha and ribavirin in 75.6%. The cumulative 5-year incidence of HCC was 13.6%, and 8.9% for overall mortality. Liver cirrhosis at enrollment was an independent risk factor for HCC development. This is the first study to elucidate the clinical features and outcomes among the patients with HCV genotype 3 infection in Korea. Further prospective studies are needed to investigate transmission routes and outcomes for HCV genotype 3 infections. PMID:26871824

  5. Clinical Features of Fixed Drug Eruption at a Tertiary Hospital in Korea

    PubMed Central

    Jung, Jae-Woo; Cho, Sang-Heon; Kim, Kyu-Han; Min, Kyung-Up

    2014-01-01

    Purpose Fixed drug eruption (FDE) is characterized by a well-defined erythematous patch, plaque, or bullous eruption that recurs at the same site as the result of systemic exposure to a causative drug, and resolves with or without hyperpigmentation. This study was carried out to identify the common causative drugs and clinical features of FDE in Korea. Methods We reviewed electronic medical records of all patients diagnosed with FDE from January 2000 to December 2010 at a tertiary hospital in Korea. Results A total of 134 cases were diagnosed as FDE. The mean age was 35.9 years (range, 0-82 years) and 69 (51.5%) of the patients were male. The mean duration from the first event to attending hospital was 1.9 years (range, 1-20 years). The mean number of recurrences was 2.6 (1-10), and 72.6% of patients sought medical care after experiencing symptoms twice or more. Four patients (3.1%) needed hospitalization. The most common sites were the upper extremities (47.7%), followed by the lower extremities, face, abdomen, chest, buttocks and perineum. Clear documentation on the causative drugs was available for 38 patients (28.4%), and among these, non-steroidal anti-inflammatory drugs (NSAIDs) and acetaminophen accounted for 71.1% of cases, and antibiotics accounted for 15.8%. Eighty patients (59.7%) underwent active treatment for FDE, and topical steroids were most frequently prescribed (43.3%), with systemic steroids used in 11.2% of patients. Conclusions NSAIDs and acetaminophen were the main causative agents of FDE, however, the causative agents were not assessed in 25% of patients. PMID:25228998

  6. Epidemiology and clinical features of HIV infection/AIDS in Korea.

    PubMed

    Kim, June Myung; Cho, Goon Jae; Hong, Sung Kwan; Chang, Kyung Hee; Chung, Joo Sup; Choi, Young Hwa; Song, Young Goo; Huh, Aejung; Yeom, Joon Sup; Lee, Kkot Sil; Choi, Jun Yong

    2003-06-30

    HIV infection/AIDS shows characteristic epidemiological and clinical patterns according to the region, country, and race. The epidemiological and clinical patterns of HIV infection/ AIDS in Korea was investigated by retrospectively analyzing the medical records of 176 HIV-infected persons who visited two major referral hospitals of AIDS in Korea from 1985 to April 2000. The most common transmission route was heterosexual contact (52.3%), followed by homosexual contact (23.9%). Among the opportunistic diseases, candidiasis was the most prevalent (21.6%), followed by Pneumocystis carinii pneumonia (15.9%), tuberculosis (12.5%), and CMV infection (9.1%). The most common initial AIDS-defining opportunistic disease was tuberculosis (33.3%). The most common causes of death were tuberculosis (25.7%) and Pneumocystis carinii pneumonia (25.7%). This study describes the epidemiological and clinical patterns of HIV infection/AIDS in Korea, which not only enables us to accurately understand HIV infection/ AIDS in this country, but eventually to aid in establishing effective preventive measures and treatment guidelines in Korea.

  7. Epidemiological and Clinical Features of Severe Fever with Thrombocytopenia Syndrome during an Outbreak in South Korea, 2013–2015

    PubMed Central

    Park, Sun-Whan; Ryou, Jungsang; Choi, Woo-Young; Han, Myung-Guk; Lee, Won-Ja

    2016-01-01

    Since the first reported case of severe fever with thrombocytopenia syndrome (SFTS) in South Korea in 2013, between 2013 and 2015, we collected 1,697 serum samples from suspected patients who experienced symptoms of SFTS. We performed reverse transcriptase polymerase chain reaction using total RNA extracted from the patients' sera. When viral RNA was detected in the sera, SFTS was diagnosed. Among the 1,697 samples, 170 were positive for SFTS virus. We then analyzed the epidemiologic features of these 170 cases. As a result, we found that the annual number of cases increased steadily. However, the annual case fatality rate exhibited a downward trend. The majority of patients were aged ≥ 60 years, and most cases occurred during May–October in the eastern and southern parts of the country. These results may be useful for effective SFTS control by describing the clinical and epidemiologic features of the disease in South Korea. PMID:27928084

  8. Clinical features of HBsAg seroclearance in hepatitis B virus carriers in South Korea: A retrospective longitudinal study

    PubMed Central

    Park, Young Min; Lee, Seong Gyu

    2016-01-01

    AIM To investigate the characteristic features of hepatitis B surface antigen (HBsAg) seroclearance among Korean hepatitis B virus (HBV) carriers. METHODS Carriers with HBsAg seroclearance were selected by analyzing longitudinal data collected from 2003 to 2015. The period of time from enrollment to the negative conversion of HBsAg (HBsAg-NC) was compared by stratifying various factors, including age, sex, hepatitis B e antigen (HBeAg), HBV DNA, sequential changes in the signal-to-cutoff ratio of HBsAg (HBsAg-SCR), as measured by qualitative HBsAg assay, and chronic liver disease on ultrasonography (US-CLD). Quantification of HBV DNA and HBsAg (HBsAg-QNT) in the serum was performed by commercial assay. RESULTS Among the 1919 carriers, 90 (4.7%) exhibited HBsAg-NC at 6.2 ± 3.6 years after registration, with no differences observed among the different age groups. Among these carriers, the percentages of those with asymptomatic liver cirrhosis (LC) and hepatocellular carcinoma (HCC) at registration were 31% and 7.8%, respectively. The frequency of HBsAg-NC significantly differed according to the HBV DNA titer and US-CLD. HBeAg influenced HBsAg-NC in the 40-50 and 50-60 year age groups. HBsAg-SCR < 1000 was correlated with an HBsAg-QNT < 200 IU/mL. A gradual decrease in the HBsAg-SCR to < 1000 predicted HBsAg-NC. Six patients developed HCC after registration, including two before and four after HBsAg-NC. The rate at which the patients developed new HCC after HBsAg seroclearance was 4.8%. LC with excessive drinking and vertical infection were found to be risk factors for HCC in the HBsAg-NC group. CONCLUSION HCC surveillance should be continued after HBsAg seroclearance. An HBsAg-SCR < 1000 and its decrease in sequential testing are worth noting as predictive markers of HBsAg loss. PMID:27956808

  9. Chest CT Features of Cystic Fibrosis in Korea: Comparison with Non-Cystic Fibrosis Diseases

    PubMed Central

    Yang, So Yeon; Cha, Min Jae; Kim, Tae Jung; Kim, Tae Sung; Yoon, Hyun Jung

    2017-01-01

    Objective Cystic fibrosis (CF) is a rare congenital disease in Korea, and its clinical and imaging findings are unclear. The objective of our study was to describe the clinical and CT features of CF in Korea and compare its features with those of other diseases mimicking CF. Materials and Methods From November 1994 to December 2014, a presumptive diagnosis of CF was made in 23 patients based on clinical or radiological examination. After the exclusion of 10 patients without diagnostic confirmation, 13 patients were included in the study. A diagnosis of CF was made with the CF gene study. CT findings were evaluated for the presence and distribution of parenchymal abnormalities including bronchiectasis, tree-in-bud (TIB) pattern, mucus plugging, consolidation, and mosaic attenuation. Results Of the 13 patients, 7 (median age, 15 years) were confirmed as CF, 4 (median age, 19 years) had primary ciliary dyskinesia, 1 had bronchiectasis of unknown cause, and 1 had chronic asthma. CT of patients with CF showed bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging in all patients, with upper lung predominance (57%). In CT of the non-CF patients, bilateral bronchiectasis, TIB pattern, mosaic attenuation, and mucus plugging were also predominant features, with lower lung predominance (50%). Conclusion Korean patients with CF showed bilateral bronchiectasis, cellular bronchiolitis, mucus plugging, and mosaic attenuation, which overlapped with those of non-CF patients. CF gene study is recommended for the definitive diagnosis of CF in patients with these clinical and imaging features. PMID:28096734

  10. Episodic Ataxias: Clinical and Genetic Features

    PubMed Central

    Choi, Kwang-Dong; Choi, Jae-Hwan

    2016-01-01

    Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have an autosomal dominant inheritance pattern. To date, 8 subtypes have been defined according to clinical and genetic characteristics, and five genes are known to be linked to EAs. Both EA1 and EA2, which are caused by mutations in KCNA1 and CACNA1A, account for the majority of EA, but many patients with no identified mutations still exhibit EA-like clinical features. Furthermore, genetically confirmed EAs have mostly been identified in Caucasian families. In this article, we review the current knowledge on the clinical and genetic characteristics of EAs. Additionally, we summarize the phenotypic features of the genetically confirmed EA2 families in Korea. PMID:27667184

  11. 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

  12. Clinical Characteristics of Marfan Syndrome in Korea

    PubMed Central

    Lim, A Young; Song, Ju Sun; Kim, Eun Kyoung; Jang, Shin Yi; Chung, Tae-Young; Choi, Seung-Hyuk; Sung, Kiick; Huh, June; Kang, I-Seok; Choe, Yeon Hyeon; Ki, Chang-Seok

    2016-01-01

    Background and Objectives Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS. Subjects and Methods We included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center. Patients with an MFS-related disorder including MASS phenotype (myopia, mitral valve prolapse, borderline and non-progressive aortic root dilatation, skeletal findings, and striae), mitral valve prolapse syndrome, and ectopia lentis syndrome were excluded. A total of 343 Korean patients aged ≥15 years who satisfied the revised Ghent nosology were included. Results The mean patient age at diagnosis was 35.9±12.6 years and 172 (50.1%) patients were male. Median follow-up duration was 52.8 months. A total of 303 patients (88.6%) had aortic root dilatation with Z score ≥2 or aortic root dissection. Ectopia lentis was relatively less common (163 patients, 55.1%) and systemic score ≥7 was found in 217 patients (73.8%). Among 219 probands, a family history of MFS was present in 97 patients (44.5%) and sporadic cases in 121 patients (55.5%). Among the 157 probands who underwent genetic analysis, 141 (89.8%) had an FBN1 mutation associated with aortic root aneurysm/dissection. Aortic dissection (AD) or intramural hematoma (IMH) was identified in 110 patients (32.1%). Among the 221 patients without AD or IMH, descending aortic aneurysms were identified in 19 patients (8.6%). Two hundred thirteen patients (62%) underwent cardiovascular surgery of any type. Eight patients died during follow-up. Conclusion We described the clinical characteristics and outcomes of Korean MFS patients. Cardiovascular manifestations were commonly detected and FBN1 mutation was present

  13. Pemphigus in Korea: clinical manifestations and treatment protocol.

    PubMed

    Seo, Pan Gyo; Choi, Won Woo; Chung, Jin Ho

    2003-11-01

    Pemphigus, a rare, chronic blistering disease of the skin and mucous membranes with severe morbidity and occasional mortality, is the most common autoimmune bullous disease in Korea. The purpose of this study was to evaluate the clinical features and propose a treatment strategy for patients with pemphigus. A retrospective analysis was conducted of 51 pemphigus patients seen between 1993 and 2001. Pemphigus vulgaris (PV) was the most common type with 32 cases, followed by 19 cases of pemphigus foliaceus (PF). The male to female ratio was 1:1.3, with females predominating, particularly among PV patients (PV, 1:1.5; PF, 1:1.1). The average ages at onset of PV and PF were 44.3 and 51.0 years old, respectively. Mucosal involvement was noted in 27 cases (84.4%) of PV but in only 3 cases (15.8%) of PF. Most patients initially received relatively low to intermediate doses (0.3-1.0 mg/kg/day) of prednisolone, and 23 (71.9%) PV patients and 10 (52.6%) PF patients also received immunosuppressive agents. Oral prednisolone and azathioprine (100 mg/day) formed the mainstay of treatment for our patients (47.1%). At the time of writing, 25.5% (13/51) of patients are in complete remission, and 72.5% (37/51) are undergoing maintenance therapy. One patient died due to sepsis during the treatment. For the treatment of pemphigus, a course of the lowest possible corticosteroid dosage in combination with immunosuppressive agents appears to be effective and less toxic than a high corticosteroid dosage.

  14. Integrating clinical information in National Biobank of Korea.

    PubMed

    Kim, Hangchan; Yi, Byoung-Kee; Kim, Il Kon; Kwak, Yun Sik

    2011-08-01

    The National Biobank of Korea (NBK) is a government supported project that aims at consolidating various human-originated biomedical resources collected by individual hospitals nation-wide and integrating them with their donors' clinical information which researchers can take advantage of. In this paper, we present our experiences in developing the Clinical Information Integration System (CIIS) for NBK. The system automatically extracts clinical data from hospital information systems as much as possible to avoid errors from manual entry by human errors. It maintains the independence of individual hospitals by employing a two-layer approach, one of which takes care of all hospital-specific aspects. Interoperability is achieved by adopting HL7 v2.x messaging between the biobank and hospitals. We report the current status of the biobank and system deployments. We finally identify limitations and discuss how to improve them.

  15. [Multinational clinical trial in Japan and Korea on detrusitol].

    PubMed

    Yoshinaga, Yukio

    2009-02-01

    A randomized, double-blind, placebo- and active comparator-controlled study was conducted in 69 centers to compare detrusitol and oxybutynin with placebo in Japanese and Korean patients with an overactive bladder (OAB). Detrusitol had similar efficacy but was better tolerated than oxybutynin in Japanese and Korean patients with OAB. The study result was acknowledged as pivotal data in the clinical data package when NDA was filed and successfully approved both in Japan and Korea. Some differences were found in the efficacy and safety of the drug between the Japanese and Korean data, though. We therefore investigated the differences through stratified analysis; however exact causes could not be identified. This study is positioned as a first multinational clinical trial conducted in East Asia. From the aspects of utilization of interoperable data obtained from such multinational clinical trials for NDA filing and earliest possible registration of drugs in the participating countries, we believe it is important to accumulate more experiences in conducting multinational clinical trials. At this time, it is our prime task to minimize the "drug lag" in Japan; I think improving the speed of clinical trials is one of the factors to solve the issue. Global clinical trials involving Western and Asian countries make it possible to use the study data effectively and commonly in many countries. Moreover, from the viewpoint of revitalization of clinical trials, conducting global clinical trials is critically important; so we intend to continue accumulation of our experiences in global clinical trials.

  16. Clinical Features of Influenza and Acute Respiratory Illness in Older Adults at Least 50 Years of Age in an Outpatient Setting in the Republic of Korea: a Prospective, Observational, Cohort Study.

    PubMed

    Kim, Woo Joo; Lee, Jin Soo; Lee, Chang Kyu; Cheong, Hee Jin; Kim, Mijeong; Monegal, Javier Sawchik; Carneiro, Rute; Kyaw, Moe H; Haguinet, François; Ray, Riju; Matias, Gonçalo

    2017-03-01

    Two prospective, multi-centre, observational studies (GlaxoSmithKline [GSK] identifier No. 110938 and 112519) were performed over 2 influenza seasons (2007-2008 and 2008-2009) in the Republic of Korea (ROK) with the aim to evaluate the burden of laboratory-confirmed influenza (LCI) in patients ≥ 50 years of age seeking medical attention for acute respiratory illness (ARI). The median participant age was 58 years in the 2007-2008 season and 60 years in the 2008-2009 season. LCI was observed in 101/346 (29.2%) of ARI patients in the 2007-2008 season and in 166/443 (37.5%) of ARI patients in the 2008-2009 season. Compared to patients with non-influenza ARI, those with LCI had higher rates of decreased daily activities (60.4% vs. 32.9% in 2007-2008 and 46.4% vs. 25.8% in 2008-2009), work absenteeism (51.1% vs. 25.6% and 14.4% vs. 7.7%), and longer duration of illness. These results indicated that influenza is an important cause of ARI in adults aged 50 and older causing more severe illness than non-influenza related ARI.

  17. Clinical Features of Influenza and Acute Respiratory Illness in Older Adults at Least 50 Years of Age in an Outpatient Setting in the Republic of Korea: a Prospective, Observational, Cohort Study

    PubMed Central

    2017-01-01

    Two prospective, multi-centre, observational studies (GlaxoSmithKline [GSK] identifier No. 110938 and 112519) were performed over 2 influenza seasons (2007–2008 and 2008–2009) in the Republic of Korea (ROK) with the aim to evaluate the burden of laboratory-confirmed influenza (LCI) in patients ≥ 50 years of age seeking medical attention for acute respiratory illness (ARI). The median participant age was 58 years in the 2007–2008 season and 60 years in the 2008–2009 season. LCI was observed in 101/346 (29.2%) of ARI patients in the 2007–2008 season and in 166/443 (37.5%) of ARI patients in the 2008–2009 season. Compared to patients with non-influenza ARI, those with LCI had higher rates of decreased daily activities (60.4% vs. 32.9% in 2007–2008 and 46.4% vs. 25.8% in 2008–2009), work absenteeism (51.1% vs. 25.6% and 14.4% vs. 7.7%), and longer duration of illness. These results indicated that influenza is an important cause of ARI in adults aged 50 and older causing more severe illness than non-influenza related ARI. PMID:28145642

  18. 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.

  19. 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

  20. 2014 Clinical Practice Guidelines for Overweight and Obesity in Korea

    PubMed Central

    Kim, Mee Kyoung; Lee, Won-Young; Kang, Jae-Heon; Kang, Jee-Hyun; Kim, Bom Taeck; Kim, Seon Mee; Kim, Eun Mi; Suh, Sang-Hoon; Shin, Hye Jung; Lee, Kyu Rae; Lee, Ki Young; Lee, Sang Yeoup; Lee, Seon Yeong; Lee, Seong-Kyu; Lee, Chang Beom; Chung, Sochung; Jeong, In Kyung; Hur, Kyung Yul

    2014-01-01

    The dramatic increase in the prevalence of obesity and its accompanying comorbidities are major health concerns in Korea. Obesity is defined as a body mass index ≥25 kg/m2 in Korea. Current estimates are that 32.8% of adults are obese: 36.1% of men and 29.7% of women. The prevalence of being overweight and obese in national surveys is increasing steadily. Early detection and the proper management of obesity are urgently needed. Weight loss of 5% to 10% is the standard goal. In obese patients, control of cardiovascular risk factors deserves the same emphasis as weight-loss therapy. Since obesity is multifactorial, proper care of obesity requires a coordinated multidisciplinary treatment team, as a single intervention is unlikely to modify the incidence or natural history of obesity. PMID:25559568

  1. 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

  2. Molecular mechanisms of carbapenem resistance in Enterobacter cloacae clinical isolates from Korea and clinical outcome.

    PubMed

    Lee, Yangsoon; Choi, Heekyeong; Yum, Jong Hwa; Kang, Girung; Bae, Il Kwon; Jeong, Seok Hoon; Lee, Kyungwon

    2012-01-01

    We investigated the molecular mechanisms of carbapenem resistance in clinical isolates of Enterobacter cloacae and their clinical characteristics. Nonreplicable E. cloacae isolates were recovered from six cancer patients and one patient with liver cirrhosis at a tertiary-care hospital in Korea between 2002 and 2009. Two patients who were considered to have a true infection caused by these microorganisms have died. All isolates produced AmpC β-lactamases, including ACT-1, ACT-2, MIR-3 and DHA-1, and CTX-M- or SHV-type extended-spectrum β-lactamase. Two isolates produced plasmid-borne VIM-2 carbapenemase. All probes specific for bla(AmpC) genes hybridized with I-CeuI chromosomal fragments were also recognized by a probe specific for 16S rDNA, suggesting a chromosomal location. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis showed that a major outer membrane protein, OmpF, was absent in all isolates. PFGE of XbaI-digested DNA were considered to be unrelated. The results of our study suggest that the chromosomal AmpC β-lactamase with impermeability in E. cloacae clinical isolates implicated in reduced carbapenem susceptibility. Although carbapenem-resistant E. cloacae isolates were isolated in a few patients in our study, the clinical outcomes were grave. Therefore, the patients colonized or infected by carbapenem-resistant E. cloacae isolates should gain attention of antibiotic therapy.

  3. Analysis of seasonal water pollution based on rainfall feature at Anyang river basin in Korea

    NASA Astrophysics Data System (ADS)

    Han, J. G.; Lee, Y. K.; Kim, T. H.; Hwang, E. J.

    2005-08-01

    To determine selected water pollution parameters of the Anyang River (one of the biggest contributory branches of the Han River in Korea) and its main tributaries, the geological and topographical and rainfall features in its basin were investigated, and the resulting data were tabulated. Samples were collected at the upper, mid and down parts of the Anyang River and its branches and were analyzed based on biochemical and chemical methods, Korean biotic index (KBI) and Saprobien systems. Selected parameters of concern include BOD, heavy metals, nonpoint pollution and sewage discharge. The Anyang River basin has a torrential heavy rainfall; however, the rate of rainfall significantly varies from season to season. Water pollution levels in the dry season increase dramatically. The mainstream of the Anyang River is classified as fifth grade polysaprobic water according to Saprobien system. In addition, the biotic index is over 2.5 in overall. General pollution at the junction of the Anyang River and each branch stream varies. Possible countermeasures to improve the water quality of the river include intercept the non-treated waste water and sewage at the Anyang River junction and each branch stream, enforcement of water management during the rainy season, and continuous investment on environmental restoration.

  4. Mitochondrial disorders: clinical and genetic features.

    PubMed

    Simon, D K; Johns, D R

    1999-01-01

    Virtually all cells in humans depend on mitochondrial oxidative phosphorylation to generate energy, accounting for the remarkable diversity of clinical disorders associated with mitochondrial DNA mutations. However, certain tissues are particularly susceptible to mitochondrial dysfunction, resulting in recognizable clinical syndromes. Mitochondrial DNA mutations have been linked to seizures, strokes, optic atrophy, neuropathy, myopathy, cardiomyopathy, sensorineural hearing loss, diabetes mellitus, and other clinical features. Mitochondrial DNA mutations also may play an important role in aging, as well as in common age-related neurodegenerative disorders such as Parkinson's disease. Therefore, it is becoming increasingly important for clinicians to recognize the clinical syndromes suggestive of a mitochondrial disorder, and to understand the unique features of mitochondrial genetics that complicate diagnosis and genetic counseling.

  5. Genotypes of Clinical and Environmental Isolates of Cryptococcus neoformans and Cryptococcus gattii in Korea

    PubMed Central

    Park, So Hae; Choi, Seok Cheol; Lee, Kyung Won; Kim, Mi-Na

    2015-01-01

    Multilocus sequence typing analysis was applied to determine the genotypes of 147 (137 clinical and 10 environmental) Cryptococcus neoformans and three clinical Cryptococcus gattii isolates from 1993 to 2014 in Korea. Among the 137 clinical isolates of C. neoformans, the most prevalent genotype was ST5 (n = 131), followed by ST31 (n = 5) and ST127 (n = 1). Three C. gattii strains were identified as ST57, ST7, and ST113. All environmental isolates were identified as C. neoformans with two genotypes, ST5 (n = 7) and ST31 (n = 3). Our results show that C. neoformans isolates in Korea are genetically homogeneous, and represent a close genetic relationship between clinical and environmental isolates. PMID:26539057

  6. Clinical Significance of Component Allergens in Fagales Pollen-Sensitized Peanut Allergy in Korea

    PubMed Central

    Park, Kyung Hee; Son, Young Woong; Lee, Sang Chul; Jeong, Kyunguk; Sim, Da Woon; Park, Hye Jung; Lee, Sooyoung; Lee, Jae-Hyun

    2016-01-01

    Purpose Clinical features of peanut allergy can range from localized to systemic reactions. Because peanut and birch pollen have cross-reactivity, peanut can lead to localized allergic reaction in Fagales pollen-sensitized oral allergy syndrome (OAS) patients without peanut sensitization per se. The purpose of this study was to discriminate true peanut food allergy from cross-reactive hypersensitivity in birch-sensitized peanut allergy. Methods Birch-sensitized (n=81) and peanut anaphylaxis patients (n=12) were enrolled. Peanut-related allergic reactions and sensitization profiles were examined. Specific IgE to Fagales tree pollens (birch, oak), peanut, and their component allergens (Bet v 1, Bet v 2, Ara h 1, Ara h 2, Ara h 3, Ara h 8, and Ara h 9) were evaluated. Based on these specific IgEs and clinical features, the patients were classified into 4 groups: group 1 (Fagales pollen allergy without OAS), group 2 (Fagales pollen allergy with OAS), group 3 (OAS with peanut anaphylaxis), and group 4 (peanut anaphylaxis). Results After peanut consumption, one-third of OAS patients experienced oral symptoms not associated with peanut sensitization. Ara h 1 or Ara h 2 was positive in peanut anaphylaxis patients, whereas Ara h 8 was positive in OAS patients. There were 4 patients with both peanut anaphylaxis and OAS (group 3). Both Ara h 2 and Ara h 8 were positive in these patients. Foods associated with OAS in Korea showed unique patterns compared to Westernized countries. Conclusions Ara h 2 and Ara h 8 may be important component allergens for discriminating peanut allergy. PMID:27582401

  7. Clinical and imaging features of fludarabine neurotoxicity.

    PubMed

    Lee, Michael S; McKinney, Alexander M; Brace, Jeffrey R; Santacruz, Karen

    2010-03-01

    Neurotoxicity from intravenous fludarabine is a rare but recognized clinical entity. Its brain imaging features have not been extensively described. Three patients received 38.5 mg or 40 mg/m per day fludarabine in a 5-day intravenous infusion before bone marrow transplantation in treatment of hematopoietic malignancies. Several weeks later, each patient developed progressive neurologic decline, including retrogeniculate blindness, leading to coma and death. Brain MRI showed progressively enlarging but mild T2/FLAIR hyperintensities in the periventricular white matter. The lesions demonstrated restricted diffusion but did not enhance. Because the neurotoxicity of fludarabine appears long after exposure, neurologic decline in this setting is likely to be attributed to opportunistic disease. However, the imaging features are distinctive in their latency and in being mild relative to the profound clinical features. The safe dose of fludarabine in this context remains controversial.

  8. Clinical and radiographic maxillofacial features of pycnodysostosis

    PubMed Central

    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

  9. Spinal infections: clinical and imaging features.

    PubMed

    Arbelaez, Andres; Restrepo, Feliza; Castillo, Mauricio

    2014-10-01

    Spinal infections represent a group of rare conditions affecting vertebral bodies, intervertebral discs, paraspinal soft tissues, epidural space, meninges, and spinal cord. The causal factors, clinical presentations, and imaging features are a challenge because the difficulty to differentiate them from other conditions, such as degenerative and inflammatory disorders and spinal neoplasm. They require early recognition because delay diagnosis, imaging, and intervention may have devastating consequences especially in children and the elderly. This article reviews the most common spinal infections, their pathophysiologic, clinical manifestation, and their imaging findings.

  10. Cellulitis: definition, etiology, and clinical features.

    PubMed

    Gunderson, Craig G

    2011-12-01

    Cellulitis is a common condition seen by physicians. Over the past decade, skin and soft tissue infections from community-associated methicillin-resistant Staphylococcus aureus have become increasingly common. In this article, the definition, etiology, and clinical features of cellulitis are reviewed, and the importance of differentiating cellulitis from necrotizing soft tissue infections is emphasized. Empiric antimicrobial recommendations are suggested, including the most recent recommendations from the Infectious Disease Society of America.

  11. 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

  12. Epidemiologic Features of Animal Bite Cases Occurring in Rabies-Endemic Areas of Korea, 2005 to 2009

    PubMed Central

    Han, Myung Guk; Jung Sang, Ryou; Jeong, Young Eui; Ju, Young Ran; Cho, Jung Eun; Park, Jun-Sun

    2012-01-01

    Objectives Human rabies is a reemerging infectious disease in Korea. There was no human rabies case for 14 years until the disease had reoccurred in 1999. To prevent occurrence of human rabies, surveillance for animal bite patients in rabies endemic areas in Korea was conducted since 2005 as a part of a human rabies control program. The animal bite cases were analyzed to determine whether patients were treated according to the post-exposure prophylaxis (PEP) guideline of the Korea Centers for Disease Control and Prevention. Methods Information of animal bite cases that occurred from 2005 to 2009 in rabies high-risk regions were collected by cooperation with Regional Public Health Centers in 18 cities/districts of rabies endemic areas. Results A total of 2458 animal bite cases were reported. Dogs accounted for 86% of animal bites and 67% of the animals were not vaccinated against rabies virus. For PEP, among rabies-vaccinated animals, 92.7% were observed for clinical signs and 1.4% underwent necropsy. Among unvaccinated animals, 72.7% were observed for clinical signs and 4.1% underwent necropsy. The remaining animals were not available for examination. Of the animal bite patients, 32.5% received PEP and 51.6% were treated by first aid or by washing the wound. Conclusions Given that no human rabies cases were reported since 2005 and animal rabies was continuously reported in endemic areas of Korea, the human rabies control program implemented in 2005 appears to have a significant role in the prevention and control of human rabies. PMID:24159481

  13. Primary Sjogren syndrome: clinical and immunopathologic features.

    PubMed

    Fox, R I; Howell, F V; Bone, R C; Michelson, P

    1984-11-01

    Primary Sjogren syndrome is an autoimmune condition in which dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia) result from lymphocytic infiltration of lacrimal and salivary glands. Clinical and laboratory features of 60 primary Sjogren syndrome patients seen at our clinic during the past three years are presented. These patients illustrate the wide spectrum of extraglandular features that may occur as a result of lymphoid infiltration of lung, kidney, skin, stomach, liver, and muscle. They further emphasize the difficulty in classifying a patient as primary or secondary Sjogren syndrome (ie, sicca symptoms associated with systemic lupus erythematosus, rheumatoid arthritis, or scleroderma), particularly early in the disease course. As an initial step in understanding the pathogenesis, the lymphocytes that infiltrate the salivary glands and lymph nodes were characterized by using monoclonal antibodies that recognize distinct lymphocyte subsets and by using in vitro functional assays. These studies have demonstrated that affected tissues have infiltrates of T cells with helper/inducer activity and with a high frequency of "activation antigens." The immunohistologic techniques are useful in differentiating "benign" and "pseudolymphoma" lesions (both due predominantly to T cells) from non-Hodgkin lymphoma (usually due to B-cell infiltrates). Although there is no "cure" for primary Sjogren syndrome patient's symptoms may be significantly improved by measures aimed at prevention of ocular and dental complications and by the recognition of extraglandular features that may be amenable to specific treatment.

  14. Epidemiological and clinical features of Minamata disease.

    PubMed

    Igata, A

    1993-10-01

    Minamata disease is methyl mercury intoxication from fish contaminated by a chemical factory in Minamata city. Based on the results of our regional survey, cardinal clinical features of the disease were clarified by a multivariant analysis of all symptoms in inhabitants in the polluted area. The clinical features were found to be essentially the same as those of Hunter Russell syndrome; however, some additional symptoms were also found. Those symptoms are influenced by many factors, such as degree of exposure and duration of pollution. The disposition of each inhabitant also plays a role in clinical manifestation. This analysis contributes to a correct individual diagnosis and to the correct estimation of patients in polluted areas. Long-term studies also uncovered a few inhabitants who claimed to have begun to experience some neurological symptoms after pollution ceased. These symptoms were attributed mainly to aging. As many inhabitants with mild neurological complaints were not easily diagnosed, a questionable borderline group should be postulated for social settlement of Minamata disease. The characteristics of Minamata disease are discussed and compared to cases of methyl mercury poisoning in other parts of the world.

  15. Neuromyelitis optica: clinical features, immunopathogenesis and treatment

    PubMed Central

    Jarius, S; Wildemann, B; Paul, F

    2014-01-01

    The term ‘neuromyelitis optica’ (‘Devic's syndrome’, NMO) refers to a syndrome characterized by optic neuritis and myelitis. In recent years, the condition has raised enormous interest among scientists and clinical neurologists, fuelled by the detection of a specific serum immunoglobulin (Ig)G reactivity (NMO-IgG) in up to 80% of patients with NMO. These autoantibodies were later shown to target aquaporin-4 (AQP4), the most abundant water channel in the central nervous system (CNS). Here we give an up-to-date overview of the clinical and paraclinical features, immunopathogenesis and treatment of NMO. We discuss the widening clinical spectrum of AQP4-related autoimmunity, the role of magnetic resonance imaging (MRI) and new diagnostic means such as optical coherence tomography in the diagnosis of NMO, the role of NMO-IgG, T cells and granulocytes in the pathophysiology of NMO, and outline prospects for new and emerging therapies for this rare, but often devastating condition. Other Articles published in this series Paraneoplastic neurological syndromes. Clinical and Experimental Immunology 2014, 175: 336–48. Disease-modifying therapy in multiple sclerosis and chronic inflammatory demyelinating polyradiculoneuropathy: common and divergent current and future strategies. Clinical and Experimental Immunology 2014, 175: 359–72. Monoclonal antibodies in treatment of multiple sclerosis. Clinical and Experimental Immunology 2014, 175: 373–84. CLIPPERS: chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids. Review of an increasingly recognized entity within the spectrum of inflammatory central nervous system disorders. Clinical and Experimental Immunology 2014, 175: 385–96. Requirement for safety monitoring for approved multiple sclerosis therapies: an overview. Clinical and Experimental Immunology 2014, 175: 397–407. Myasthenia gravis: an update for the clinician. Clinical and Experimental Immunology 2014, 175: 408

  16. The clinical outcomes of chronic hepatitis C in South Korea

    PubMed Central

    Ok, Kyeong Sam; Jeong, Sook-Hyang; Jang, Eun Sun; Kim, Young Seok; Lee, Youn Jae; Kim, In Hee; Cho, Sung Bum; Bae, Si Hyun; Lee, Han Chu

    2016-01-01

    Abstract This prospective cohort study aimed to elucidate the clinical outcome and its related factors of chronic hepatitis C in a hepatitis B-dominant Asian region. From January 2007 to October 2012, 382 patients with chronic hepatitis C without liver cirrhosis were prospectively enrolled at 6 university hospitals, and regularly followed until Apr 2014 to identify the development of liver cirrhosis, decompensated cirrhosis, hepatocellular carcinoma (HCC), and overall survival. During the median follow-up of 39.0 months (range 18.0–81.0 months), liver cirrhosis, hepatic decompensation, and HCC developed in 42 patients (11.0%), 4 patients (1.0%), and 12 patients (3.1%), respectively. The cumulative probability of development of cirrhosis at 3 years and at 5 years was 9.6% and 16.7%, respectively. That of HCC at 3 and 5 years was 1.6% and 4.5%, respectively. The 3-year and 5-year overall survival rate was 99.7% and 96.0%, respectively. Pegylated interferon-based antiviral therapy was undertaken in 237 patients (62.0%) with a sustained virologic response (SVR) rate of 74.3%. The factors related to the overall clinical outcomes were age ≥55 years (HR 2.924, P = 0.016), platelet counts <150  × 109/L (HR 3.195, P = 0.007), and the achievement of SVR (HR 0.254, P = 0.002). The clinical outcomes of this Korean chronic hepatitis C cohort were modest with minimal mortality, but significant disease progression occurred in the patients with old age, low platelet, and non-SVR after interferon-based antiviral treatment or no treatment, suggesting priority for direct acting antiviral therapy. PMID:27583874

  17. Biochemical and clinical features of hereditary hyperprolinemia.

    PubMed

    Mitsubuchi, Hiroshi; Nakamura, Kimitoshi; Matsumoto, Shirou; Endo, Fumio

    2014-08-01

    There are two classifications of hereditary hyperprolinemia: type I (HPI) and type II (HPII). Each type is caused by an autosomal recessive inborn error of the proline metabolic pathway. HPI is caused by an abnormality in the proline-oxidizing enzyme (POX). HPII is caused by a deficiency of Δ-1-pyrroline-5-carboxylate (P5C) dehydrogenase (P5CDh). The clinical features of HPI are unclear. Nephropathy, uncontrolled seizures, mental retardation or schizophrenia have been reported in HPI, but a benign phenotype without neurological problems has also been reported. The clinical features of HPII are also unclear. In addition, the precise incidences of HPI and HPII are unknown. Only two cases of HPI and one case of HPII have been identified in Japan through a questionnaire survey and by a study of previous reports. This suggests that hyperprolinemia is a very rare disease in Japan, consistent with earlier reports in Western countries. The one case of HPII found in Japan was diagnosed in an individual with influenza-associated encephalopathy. This suggests that HPII might reduce the threshold for convulsions, thereby increasing the sensitivity of individuals with influenza-associated encephalopathy. The current study presents diagnostic criteria for HPI and HPII, based on plasma proline level, with or without measurements of urinary P5C. In the future, screening for HPI and HPII in healthy individuals, or patients with relatively common diseases such as developmental disabilities, epilepsy, schizophrenia or behavioral problems will be important.

  18. Electroencephalographic and clinical features of cerebral malaria

    PubMed Central

    Crawley, J; Smith, S; Muthinji, P; Marsh, K; Kirkham, F

    2001-01-01

    BACKGROUND—Seizures are a prominent feature of childhood cerebral malaria, and are associated with an increased risk of death and neurological sequelae. We present the electroencephalographic (EEG) findings from a detailed clinical and electrophysiological study.
METHODS—Children with cerebral malaria had EEGs recorded within six hours of admission, and at 12 hourly intervals until recovery of consciousness. Ten deeply comatose children underwent intracranial pressure monitoring. Children were not mechanically ventilated, which made it possible to directly correlate the clinical and EEG findings.
RESULTS—Of 65 children aged 9 months and above, 40 had one or more seizures, and 18 had an episode of status epilepticus. Most seizures were partial motor, and spike wave activity consistently arose from the posterior temporo-parietal region, a border zone area lying between territories supplied by the carotid and vertebrobasilar circulations. Fifteen children had seizures that were clinically subtle or electrographic. Clinical seizures were associated with an abrupt rise in intracranial pressure. Fifty children recovered fully, seven died, and eight had persistent neurological sequelae. Initial EEG recordings of very slow frequency, or with background asymmetry, burst suppression, or interictal discharges, were associated with an adverse outcome.
CONCLUSIONS—Serial EEG recording has uncovered a range of clinical, subtle, and electrographic seizures complicating childhood cerebral malaria, and has emphasised their importance in the pathogenesis of coma. Further work is required to determine the most appropriate regimen for the prophylaxis and treatment of seizures in cerebral malaria, in order to improve outcome.

 PMID:11207176

  19. 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

  20. Sporotrichosis arthritis: clinical features in seven patients.

    PubMed

    Crout, J E; Brewer, N S; Tompkins, R B

    1977-03-01

    A review of the clinical features of seven patients with sporotrichosis arthritis showed that six had joint infection without previous skin or lung involvement and that one with myelofibrosis had joint and skin infection. The average time from onset of joint symptoms to diagnosis was 25 months, resulting in joint damage that required arthrodesis in four patients. Tissue from open synovial biopsy was superior to synovial fluid for obtaining a positive culture; concomitant synovial fluid and synovial tissue cultures were superior to either one alone. Granulomatous inflammation was seen in synovial tissue in six patients biopsied. Amphotericin B with surgical debridement of the affected joint was successful treatment in four patients. Although an uncommon cause of joint disease, sporotrichosis arthritis may go unrecognized and mimic other forms of arthritis, resulting in irreparable damage in an otherwise curable form of arthritis.

  1. Costeff syndrome: clinical features and natural history.

    PubMed

    Yahalom, Gilad; Anikster, Yair; Huna-Baron, Ruth; Hoffmann, Chen; Blumkin, Lubov; Lev, Dorit; Tsabari, Rakefet; Nitsan, Zeev; Lerman, Sheera F; Ben-Zeev, Bruria; Pode-Shakked, Ben; Sofer, Shira; Schweiger, Avraham; Lerman-Sagie, Tally; Hassin-Baer, Sharon

    2014-12-01

    Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, ataxia, chorea and spastic paraparesis. Our aim was to study the clinical spectrum of CS and natural history using a cross-sectional study design. Consecutive patients with CS were recruited to the study. Patients were diagnosed based on clinical features, along with elevated urinary levels of methylglutaconic and methylglutaric acid, and by identification of the disease-causing mutation in the OPA3 gene in most. All patients were examined by a neurologist and signs and symptoms were rated. 28 patients with CS (16 males, 21 families, age at last observation 28.6 ± 16.1 years, range 0.5-68 years) were included. First signs of neurological deficit appeared in infancy or early childhood, with delayed motor milestones, choreiform movements, ataxia and visual disturbances. Ataxia and chorea were the dominant motor features in childhood, but varied in severity among patients and did not seem to worsen with age. Pyramidal dysfunction appeared later and progressed with age (r = 0.71, p < 0.001) leading to spastic paraparesis and marked gait impairment. The course of neurological deterioration was slow and the majority of patients could still walk beyond the fifth decade. While visual acuity seemed to deteriorate, it did not correlate with age. CS is a rare neurogenetic disorder that causes serious disability and worsens with age. Spasticity significantly increases over the years and is the most crucial determinant of neurological dysfunction.

  2. Clinical features and molecular bases of neuroacanthocytosis.

    PubMed

    Rampoldi, Luca; Danek, Adrian; Monaco, Anthony P

    2002-08-01

    The term acanthocytosis is derived from the Greek for "thorn" and is used to describe a peculiar spiky appearance of erythrocytes. Acanthocytosis is found to be associated with at least three hereditary neurological disorders that are generally referred to as neuroacanthocytosis. Abetalipoproteinaemia is an autosomal recessive condition, characterised by absence of serum apolipoprotein B containing lipoproteins leading to fat intolerance and fat-soluble vitamin deficiency. This results in a progressive spinocerebellar ataxia with peripheral neuropathy and retinitis pigmentosa. Chorea-acanthocytosis is also an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, areflexia, seizures and dementia. Some of its features, including choreic movements, peripheral neuropathy with areflexia, elevated serum creatine kinase levels and myopathy are shared by another form of neuroacanthocytosis, McLeod syndrome. Patients affected by this X-linked disorder also show abnormal expression of Kell blood group antigens and a permanent haemolytic state. In addition to these cases, acanthocytosis is occasionally associated with other neurological disorders, such as Hallervorden-Spatz disease. For each of the neuroacanthocytosis syndromes we review the main clinical features and their molecular bases. The recent molecular genetics findings are the first step towards the understanding of the pathogenetic mechanisms and eventually the search for effective treatments.

  3. Discretization of continuous features in clinical datasets

    PubMed Central

    Maslove, David M; Podchiyska, Tanya; Lowe, Henry J

    2013-01-01

    Background The increasing availability of clinical data from electronic medical records (EMRs) has created opportunities for secondary uses of health information. When used in machine learning classification, many data features must first be transformed by discretization. Objective To evaluate six discretization strategies, both supervised and unsupervised, using EMR data. Materials and methods We classified laboratory data (arterial blood gas (ABG) measurements) and physiologic data (cardiac output (CO) measurements) derived from adult patients in the intensive care unit using decision trees and naïve Bayes classifiers. Continuous features were partitioned using two supervised, and four unsupervised discretization strategies. The resulting classification accuracy was compared with that obtained with the original, continuous data. Results Supervised methods were more accurate and consistent than unsupervised, but tended to produce larger decision trees. Among the unsupervised methods, equal frequency and k-means performed well overall, while equal width was significantly less accurate. Discussion This is, we believe, the first dedicated evaluation of discretization strategies using EMR data. It is unlikely that any one discretization method applies universally to EMR data. Performance was influenced by the choice of class labels and, in the case of unsupervised methods, the number of intervals. In selecting the number of intervals there is generally a trade-off between greater accuracy and greater consistency. Conclusions In general, supervised methods yield higher accuracy, but are constrained to a single specific application. Unsupervised methods do not require class labels and can produce discretized data that can be used for multiple purposes. PMID:23059731

  4. Current Clinical Status of Telehealth in Korea: Categories, Scientific Basis, and Obstacles

    PubMed Central

    Kim, Hun-Sung; Kim, Hyunah; Lee, Suehyun; Lee, Kye Hwa

    2015-01-01

    Objectives Through telehealth, medical services have expanded beyond spatial boundaries and are now available in living spaces outside of hospitals. It can also contribute to patient medical knowledge improvement because patients can access their hospital records and data from home. However, concepts of telehealth are rather vague in Korea. Methods We refer to several clinical reports to determine the current clinical status of and obstacles to telehealth in Korea. Results Patients' health conditions are now reported regularly to doctors remotely, and patients can receive varied assistance. Self-improvement based on minute details that are beyond medical staff's reach is another possible benefit that may be realized with the help of a variety of medical equipment (sensors). The feasibility, clinical effect, and cost-benefit of telehealth have been verified by scientific evidence. Conclusions Patients will be able to improve their treatment adherence by receiving help from various professionals, such as doctors, nurses, nutritionists, and sports therapists. This means that the actual treatment time per patient will increase as well. Ultimately, this will increase the quality of patients' self-administration of care to impede disease progression and prevent complications. PMID:26618030

  5. Clinical characteristics and outcomes of acute hepatitis a in Korea: a nationwide multicenter study.

    PubMed

    Kwon, So Young; Park, Sang Hoon; Yeon, Jong Eun; Jeong, Sook Hyang; Kwon, Oh Sang; Lee, Jin Woo; Kim, Hong Soo; Seo, Yeon Seok; Kim, Young Seok; Sohn, Joo Hyun; Yim, Hyung Joon; Choi, Jong Young; Lee, Myung Seok; Kweon, Young Oh; Cheong, Jae Youn; Kim, Haak Cheoul; Lee, Heon Ju; Baik, Soon Koo; An, Hyonggin; Byun, Kwan Soo

    2014-02-01

    The aim of this study was to investigate the clinical characteristics of acute hepatitis A during a recent outbreak in Korea. Data of patients diagnosed with acute hepatitis A from 2007 to 2009 were collected from 21 tertiary hospitals retrospectively. Their demographic, clinical, and serological characteristics and their clinical outcomes were analyzed. A total of 4,218 patients (mean age 33.3 yr) were included. The median duration of admission was 9 days. The mean of the highest ALT level was 2,963 IU/L, total bilirubin was 7.3 mg/dL, prothrombin time INR was 1.3. HBsAg was positive in 3.7%, and anti-HCV positive in 0.7%. Renal insufficiency occurred in 2.7%, hepatic failure in 0.9%, relapsing hepatitis in 0.7%, and cholestatic hepatitis in 1.9% of the patients. Nineteen patients (0.45%) died or were transplanted. Complications of renal failure or prolonged cholestasis were more frequent in patients older than 30 yr. In conclusion, most patients with acute hepatitis A recover uneventfully, however, complication rates are higher in patients older than 30 yr than younger patients. Preventive strategies including universal vaccination in infants and active immunization of hepatitis A to adult population should be considered for prevention of community-wide outbreaks of hepatitis A in Korea.

  6. Yoga for Health Care in Korea: A Protocol for Systematic Review of Clinical Trials.

    PubMed

    Choi, Jiae; Jun, Ji Hee; Lee, Ju Ah; Lee, Myeong Soo

    2016-08-01

    This systematic review aims to evaluate the therapeutic effects of yoga therapy using an evidence-based approach and investigates the relationship between yoga and the meridian energies based on all available clinical studies in Korea. Sixteen electronic databases will be searched from the inception of the study until January 2016. All clinical evidences that evaluate any type of yoga and any type of control in individuals with any type of condition will be eligible. The methodological quality will be assessed using the Cochrane risk of bias tool for randomized clinical trials and the Newcastle-Ottawa scale for nonrandomized studies. Two authors will independently assess each study for eligibility and the risk of bias, and then they will extract the data. With its extensive, unbiased search of the Korean literature from various databases without any language restrictions, this systematic review will be useful for both practitioners in the field of yoga research as well as for patients.

  7. Clinical trials for vaccine development in registry of Korea Food and Drug Administration.

    PubMed

    Kang, Seog-Youn

    2013-01-01

    Based on the action plan "Ensuring a stable supply of National Immunization Program vaccines and sovereignty of biopharmaceutical products," Korea Food and Drug Administration (KFDA) has made efforts to develop vaccines in the context of self reliance and to protect public health. Along with the recognized infrastructures for clinical trials, clinical trials for vaccines have also gradually been conducted at multinational sites as well as at local sites. KFDA will support to expand six to eleven kinds of vaccines by 2017. In accordance with integrated regulatory system, KFDA has promoted clinical trials, established national lot release procedure, and strengthened good manufacturing practices inspection and post marketing surveillance. Against this backdrop, KFDA will support the vaccine development and promote excellent public health protection.

  8. Vertebral osteomyelitis: clinical features and diagnosis.

    PubMed

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

    2014-10-01

    We aimed to describe clinical and diagnostic features of vertebral osteomyelitis for differential diagnosis and treatment. This is a prospective observational study performed between 2002 and 2012 in Ankara Numune Education and Research Hospital in Ankara, Turkey. All the patients with vertebral osteomyelitis were followed for from 6 months to 3 years. In total, 214 patients were included in the study, 113 out of 214 (53%) were female. Out of 214 patients, 96 (45%) had brucellar vertebral osteomyelitis (BVO), 63 (29%) had tuberculous vertebral osteomyelitis (TVO), and 55 (26%) had pyogenic vertebral osteomyelitis (PVO). Mean number of days between onset of symptoms and establishment of diagnosis was greater with the patients with TVO (266 days) than BVO (115 days) or PVO (151 days, p <0.001). In blood cultures, Brucella spp. were isolated from 35 of 96 BVO patients (35%). Among 55 PVO patients, the aetiological agent was isolated in 11 (20%) patients. For tuberculin skin test >15 mm, sensitivity was 0.66, specificity was 0.97, positive predictive value was 0.89, negative predictive value was 0.88, and receiver operating characteristics area was 0.8. Tuberculous and brucellar vertebral osteomyelitis remained the leading causes of vertebral osteomyelitis with delayed diagnosis. In differential diagnosis of vertebral osteomyelitis, consumption of unpasteurized cheese, dealing with husbandry, sweating, arthralgia, hepatomegaly, elevated alanine transaminase, and lumbar involvement in magnetic resonance imaging were found to be predictors of BVO, thoracic involvement in magnetic resonance imaging and tuberculin skin test > 15 mm were found to be predictors of TVO, and history of spinal surgery and leucocytosis were found to be predictors of PVO.

  9. Seroprevalence of Leptospira spp. in clinically healthy racing horses in Korea.

    PubMed

    Jung, Byeong Yeal; Lee, Kyung Woo; Ha, Tae Young

    2010-02-01

    Leptospirosis is a zoonotic disease of global importance, and has a worldwide distribution. The present study aimed to determine leptospiral seroprevalence in clinically healthy racing horses from all three racecourses in Korea. Serum samples from 1,226 racing horses were examined using a microscopic agglutination test to detect the presence of antibodies against 18 Leptospira serovars. Of the tested samples, 307 (25.0%) were found to be positive. The distribution of seroprevalence differed significantly by racecourse (P=0.004); the Jeju course had the highest incidence (31.1%), followed by the Seoul (25.2%) and Busan (19.5%) racecourses. Seasonal variation in seropositivity was also apparent (P=0.000), being lower in spring (13.0%) and winter (12.5%), and higher in summer (36.7%) and autumn (34.7%). No significant age- or gender-related difference in seroprevalence was noted in this study (P>0.05). Seroprevalence was higher (P=0.006) among ponies than among thoroughbreds. Sejroe was the most frequently detected serovar (n=236), followed by Bratislava (n=35), Ballum (n=16), Autumnalis (n=10), and Canicola (n=10). The majority of serum titers were relatively low; most values ranged from 1:100 (n=217) to 1:200 (n=69). These results suggest that the Sejroe serovar may be maintained in the racing horse population in Korea.

  10. Prevalence of Trichomonas vaginalis in Women Visiting 2 Obstetrics and Gynecology Clinics in Daegu, South Korea.

    PubMed

    Goo, Youn-Kyoung; Shin, Won-Sik; Yang, Hye-Won; Joo, So-Young; Song, Su-Min; Ryu, Jae-Sook; Lee, Won-Myung; Kong, Hyun-Hee; Lee, Won-Ki; Lee, Sang-Eun; Lee, Won-Ja; Chung, Dong-Il; Hong, Yeonchul

    2016-02-01

    This study explored epidemiological trends in trichomoniasis in Daegu, South Korea. Wet mount microscopy, PCR, and multiplex PCR were used to test for Trichomonas vaginalis in vaginal swab samples obtained from 621 women visiting 2 clinics in Daegu. Of the 621 women tested, microscopy detected T. vaginalis in 4 (0.6%) patients, PCR detected T. vaginalis in 19 (3.0%) patients, and multiplex PCR detected T. vaginalis in 12 (1.9%) patients. Testing via PCR demonstrated high sensitivity and high negative predictive value for T. vaginalis. Among the 19 women who tested positive for T. vaginalis according to PCR, 94.7% (18/19) reported vaginal signs and symptoms. Notably, more than 50% of T. vaginalis infections occurred in females younger than 30 years old, and 58% were unmarried. Multiplex PCR, which simultaneously detects pathogens from various sexually transmitted infections, revealed that 91.7% (11/12) of patients were infected with 2 or more pathogens. Mycoplasma hominis was the most prevalent co-infection pathogen with T. vaginalis, followed by Ureaplasma urealyticum and Chlamydia trachomatis. Our results indicate that PCR and multiplex PCR are the most sensitive tools for T. vaginalis diagnosis, rather than microscopy which has been routinely used to detect T. vaginalis infections in South Korea. Therefore, clinicians should take note of the high prevalence of T. vaginalis infections among adolescent and young women in order to prevent persistent infection and transmission of this disease.

  11. In vitro activity of gemifloxacin against recent clinical isolates of bacteria in Korea.

    PubMed Central

    Yong, Dong Eun; Cheong, Hee-Jin; Kim, Yang Soo; Park, Yeon Joon; Kim, Woo-Joo; Woo, Jun Hee; Lee, Kyung Won; Kang, Moon Won; Choo, Youn-Sung

    2002-01-01

    Gemifloxacin is an enhanced-affinity fluoroquinolone with broad-spectrum antibacterial activity. In Korea, resistant bacteria are relatively more prevalent than in other industrialized countries. In this study, we studied the in vitro activities of gemifloxacin, gatifloxacin, moxifloxacin, levofloxacin, ciprofloxacin, and other commonly used antimicrobial agents against 1,689 bacterial strains isolated at four Korean university hospitals during 1999-2000. Minimum inhibitory concentrations (MICs) were determined using the agar dilution method of National Committee for Clinical Laboratory Standards. Gemifloxacin had the lowest MICs for the respiratory pathogens: 90% of Streptococcus pneumoniae, Moraxella catarrhalis, and Haemophilus influenzae were inhibited by 0.06, 0.03, and 0.03 mg/L, respectively. Gemifloxacin was more active than the other fluoroquinolones against methicillin-susceptible Staphylococcus aureus, coagulase-negative staphylococci, streptococci, and Enterococcus faecalis. The MIC90s of gemifloxacin for Klebsiella oxytoca, Proteus vulgaris, and non-typhoidal Salmonella spp. were 0.25, 1.0, and 0.12 mg/L, respectively, while those for other Gram-negative bacilli were 4-64 mg/L. In conclusion, gemifloxacin was the most active among the comparative agents against Gram-positive species, including respiratory pathogens isolated in Korea. PMID:12482994

  12. Fetal alcohol spectrum disorders: Clinical phenotype among a high-risk group of children and adolescents in Korea.

    PubMed

    Lee, Hyun-Seung; Jones, Kenneth Lyons; Lee, Hae Kook; Chambers, Christina D

    2016-01-01

    Little is known about the prevalence and phenotype of fetal alcohol syndrome (FAS) or spectrum disorders (FASD) in Korea. This study was performed to describe the distribution of alcohol-related physical features in a genetically homogeneous sample of children and adolescents in institutional settings in Korea. Children and adolescents receiving services in one of seven institutions in Seoul, Korea were screened for growth deficiency. Those who screened positive were assessed using a structured protocol for the key cardinal features of FAS, and for 11 additional alcohol-related dysmorphologic features. Based on these findings, children and adolescents were categorized as FAS, Deferred (some characteristic features of FAS), and No FAS. Groups were compared on the prevalence of specific additional features and number of additional features, stratified by gender and age. Of 307 children and adolescents screened, 87 received the dysmorphology evaluation. Thirteen were classified as FAS, 44 Deferred, and 30 No FAS. The frequency of 10 of the 11 additional alcohol-related features did not differ significantly by FAS category. Palmar crease abnormalities were more common in FAS (53.8%) than in the Deferred category (25.0%) or the No FAS category (6.7%) (P = 0.003). A high prevalence across all groups was found for midfacial hypoplasia and epicanthal folds, whereas only one child exhibited ptosis. This study suggests that an FASD phenotype variant related to ethnic differences in the range of defects specific to prenatal alcohol exposure may be present in the Korean population.

  13. Dynamic genetic features of eukaryotic plankton diversity in the Nakdong River estuary of Korea

    NASA Astrophysics Data System (ADS)

    Lee, Jee Eun; Chung, Ik Kyo; Lee, Sang-Rae

    2016-08-01

    Estuaries are environments where freshwater and seawater mix and they display various salinity profiles. The construction of river barrages and dams has rapidly changed these environments and has had a wide range of impacts on plankton communities. To understand the dynamics of such communities, researchers need accurate and rapid techniques for detecting plankton species. We evaluated the diversity of eukaryotic plankton over a salinity gradient by applying a metagenomics tool at the Nakdong River estuary in Korea. Environmental samples were collected on three dates during summer and autumn of 2011 at the Eulsukdo Bridge at the mouth of that river. Amplifying the 18S rDNA allowed us to analyze 456 clones and 122 phylotypes. Metagenomic sequences revealed various taxonomic groups and cryptic genetic variations at the intra- and inter-specific levels. By analyzing the same station at each sampling date, we observed that the phylotypes presented a salinity-related pattern of diversity in assemblages. The variety of species within freshwater samples reflected the rapid environmental changes caused by freshwater inputs. Dinophyceae phylotypes accounted for the highest proportion of overall diversity in the seawater samples. Euryhaline diatoms and dinoflagellates were observed in the freshwater, brackish and seawater samples. The biological data for species composition demonstrate the transitional state between freshwater and seawater. Therefore, this metagenomics information can serve as a biological indicator for tracking changes in aquatic environments.

  14. Accumulation features of arsenic species in various fishes collected from coastal cities in Korea

    NASA Astrophysics Data System (ADS)

    Choi, Sung-Deuk; Son, Hee-Sik; Choi, Minkyu; Park, Min-Kyu

    2015-12-01

    In this study, 36 fish species were collected from three coastal cities in Korea to investigate levels and patterns of six arsenicals (arsenite: As (III), arsenate: As (V), arsenocholine: AsC, arsenobetaine: AsB, monomethylarsonic acid: MMA, and dimethylarsinic acid: DMA). The levels of ∑6 As in the different fish species varied substantially, ranging from 0.02 μg As/g ww (Islaeli carp) to 9.65 μg As/g ww (Skate ray) with a median of 0.40 μg As/g ww. All the arsenicals in marine fishes showed higher levels than those in freshwater fishes due to fish feed living in saline water. Overall, marine carnivorous fishes seem to be more contaminated with arsenic. For all the fish samples, AsB (mean fraction: 90.6%) was dominant among the six arsenicals, indicating biomethylation of inorganic arsenic and accumulation of AsB. Fish species with high water contents showed elevated levels of As (III), but there was no further significant correlations between arsenicals and water/lipid contents. Concentrations of As (V) were significantly lower than those of As (III), which implies that As (V) is reduced during biomethylation of inorganic arsenic. Consequently, we hypothesize that the toxicity of arsenic (mainly derived from As (III)) can be increased by the reduction of As (V), especially for the fish species with higher water contents.

  15. Prevalence of Trichomonas vaginalis by PCR in men attending a primary care urology clinic in South Korea.

    PubMed

    Seo, Jun-Hyeok; Yang, Hye-Won; Joo, So-Young; Song, Su-Min; Lee, Yu-Ran; Ryu, Jae-Sook; Yoo, Eun Sang; Lee, Won Kee; Kong, Hyun-Hee; Lee, Sang-Eun; Lee, Won-Ja; Goo, Youn-Kyoung; Chung, Dong-Il; Hong, Yeonchul

    2014-10-01

    Trichomonas vaginalis, a causative agent of trichomoniasis, may trigger symptomatic or asymptomatic nongonococcal urethritis and chronic prostatitis in men. Despite the availability of highly sensitive diagnostic tests, such as nucleic acid amplification tests, including PCR, few prospective studies present data on male T. vaginalis infection in South Korea. In the present study, the prevalence of T. vaginalis and associated clinical conditions were evaluated in 201 male patients from a primary care urology clinic in South Korea. The prevalence of T. vaginalis infection in our cohort was 4% (8/201) by PCR. T. vaginalis infection was common in men older than 40 years (median age, 52 years). Among the 8 Trichomonas-positive patients, 87.5% (7/8) had prostatic diseases, such as prostatitis and benign prostatic hyperplasia, and 25.0% (2/8) and 12.5% (1/8) were coinfected with Chlamydia trachomatis and Mycoplasma genitalium, respectively. Our results suggest that T. vaginalis infection is not rare in men attending primary care urology clinics in South Korea, especially in those older than 40 years, in whom it may explain the presence of prostatic disease. The possibility of T. vaginalis infection should be routinely considered in older male patients with prostatic diseases in South Korea.

  16. Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome.

    PubMed

    Park, Young Hoon; Lim, Joo Han; Yi, Hyeon Gyu; Lee, Moon Hee; Kim, Chul Soo

    2016-02-01

    Due to rarity of factor V (FV) deficiency, there have been only a few case reports in Korea. We retrospectively analysed the clinical-laboratory features of FV deficiency in 10 Korean patients. Between January 1987 and December 2013, 10 case reports published in a Korean journal or proceedings of Korea Society on Thrombosis and Hemostasis were reviewed. Severity is defined as mild (> 5% of factor activity), moderate (1%-5%), and severe (< 1%). The median age at diagnosis, six males and four females, was 26 years (range, 1 month-73 years). Six of 10 patients were classified as moderate, three as mild, and one as severe disease. Eight patients were diagnosed as inherited FV deficiency. The most frequent symptoms were mucosal tract bleedings (40%) such as epistaxis, and menorrhagia in female. Hemarthroses and postoperative bleeding occurred in one and four patients, respectively. Life-threatening bleeding episodes occurred in the peritoneal cavity (n = 2), central nerve system (n = 1), and retroperitoneal space (n = 1). No lethal haemorrhages happened to patients with mild disease. The majority of bleeding episodes were controlled with local measures and fresh-frozen plasma replacement. Two acquired FV deficient-patients showing life-threatening haemorrhages received the immunosuppressive therapy, but one of them died from postoperative bleeding complications. Despite the small sample size of this study due to rarity of the disease, we found that Korean patients with FV deficiency had similar clinical manifestations and treatment outcomes shown in previous studies.

  17. Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome

    PubMed Central

    2016-01-01

    Due to rarity of factor V (FV) deficiency, there have been only a few case reports in Korea. We retrospectively analysed the clinical-laboratory features of FV deficiency in 10 Korean patients. Between January 1987 and December 2013, 10 case reports published in a Korean journal or proceedings of Korea Society on Thrombosis and Hemostasis were reviewed. Severity is defined as mild (> 5% of factor activity), moderate (1%–5%), and severe (< 1%). The median age at diagnosis, six males and four females, was 26 years (range, 1 month-73 years). Six of 10 patients were classified as moderate, three as mild, and one as severe disease. Eight patients were diagnosed as inherited FV deficiency. The most frequent symptoms were mucosal tract bleedings (40%) such as epistaxis, and menorrhagia in female. Hemarthroses and postoperative bleeding occurred in one and four patients, respectively. Life-threatening bleeding episodes occurred in the peritoneal cavity (n = 2), central nerve system (n = 1), and retroperitoneal space (n = 1). No lethal haemorrhages happened to patients with mild disease. The majority of bleeding episodes were controlled with local measures and fresh-frozen plasma replacement. Two acquired FV deficient-patients showing life-threatening haemorrhages received the immunosuppressive therapy, but one of them died from postoperative bleeding complications. Despite the small sample size of this study due to rarity of the disease, we found that Korean patients with FV deficiency had similar clinical manifestations and treatment outcomes shown in previous studies. PMID:26839474

  18. Clinical Characteristics and Treatment Outcomes of Primary Pulmonary Artery Sarcoma in Korea

    PubMed Central

    2016-01-01

    Pulmonary artery sarcomas (PAS) are rare malignant neoplasms. Right heart failure due to tumour location is the main cause of death in PAS patients. The hemodynamic influence of PAS may effect prognosis, but this has not been proven. We aimed to identify the clinical characteristics and prognostic factors of PAS in Korea, their association with pulmonary hypertension (PH). PAS patients treated at the Asan Medical Center between 2000 and 2014 were reviewed. We examined demographic characteristics, diagnostic and treatment modalities. Potential prognostic factors were evaluated by univariate and multivariate analysis. Twenty patients were diagnosed with PAS. Ten patients were male, the median age was 54 years (range, 33–75 years). The most common symptom observed was dyspnea (65%). The most common histologic type was spindle cell sarcoma (30%). Ten patients had a presumptive diagnosis of pulmonary embolism (PE) and received anticoagulation therapy. Seventeen patients underwent surgery, but only 5 patients had complete resection. Eleven patients received post-operative treatment (chemotherapy = 3, radiotherapy = 5, chemoradiotherapy = 3). PH was observed in 12 patients before treatment and in 6 patients after treatment. Overall median survival was 24 months. Post-treatment PH was associated with poor prognosis (HR 9.501, 95% CI 1.79–50.32; P = 0.008) while chemotherapy was negatively associated with mortality (HR 0.102, 95% CI 0.013–0.826; P = 0.032) in univariate analysis. Post-treatment PH was also associated with poor prognosis in multivariate analysis (HR 5.7, 95% CI 1.08–30.91; P = 0.041). PAS patients are frequently misdiagnosed with PE in Korea. Post-treatment PH is associated with a poor prognosis. PMID:27709853

  19. Cachexia: clinical features when inflammation drives malnutrition.

    PubMed

    Laviano, Alessandro; Koverech, Angela; Mari, Alessia

    2015-11-01

    Cachexia is a clinically relevant syndrome which impacts on quality of life, morbidity and mortality of patients suffering from acute and chronic diseases. The hallmark of cachexia is muscle loss, which is triggered by disease-associated inflammatory response. Cachexia is a continuum and therefore a staging system is needed. Initially, a three-stage system (i.e. pre-cachexia, cachexia and refractory cachexia) was proposed. More recent evidence supports the use of a five-stage classification system, based on patient's BMI and severity of weight loss, to better predict clinical outcome. Also, large clinical trials in cancer patients demonstrated that cachexia emerging during chemotherapy has greater influence on survival than weight loss at baseline. Therefore, becoming widely accepted is the importance of routinely monitoring patients' nutritional status to detect early changes and diagnose cachexia in its early phases. Although cachexia is associated with the presence of anabolic resistance, it has been shown that sustained yet physiological hyperaminoacidaemia, as well as the use of specific nutrients, is able to overcome impaired protein synthesis and revert catabolism. More importantly, clinical evidence demonstrates that preservation of nutritional status during chemotherapy or improvement of body weight after weight loss is associated with longer survival in cancer patients.

  20. 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.

  1. Parasomnias: clinical features and forensic implications.

    PubMed

    Bornemann, Michel A Cramer; Mahowald, Mark W; Schenck, Carlos H

    2006-08-01

    Parasomnias are undesirable behavioral or experiential phenomena arising from the sleep period. Once felt to be a unitary phenomenon, it is now clear that a wide variety of sleep disorders are capable of resulting in complex behaviors arising during sleep. The most common are disorders of arousal and rapid eye movement sleep disorder. Less common conditions include nocturnal seizures and psychogenic dissociative states. Malingering and Munchausen syndrome by proxy, while they are not actually parasomnias, may masquerade as parasomnias. Careful clinical and sleep laboratory evaluation can usually provide an accurate diagnosis with effective therapeutic implications. Due to the potential forensic implications, sleep medicine specialists may be asked to participate in legal proceedings resulting from sleep-related violence. An awareness of the spectrum of such behaviors, and their clinical and legal evaluation, is becoming more important in the practice of sleep medicine.

  2. 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…

  3. 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

  4. Clinical Features and Outcome of Mucormycosis

    PubMed Central

    Camara-Lemarroy, Carlos Rodrigo; González-Moreno, Emmanuel Irineo; Rodríguez-Gutiérrez, René; Rendón-Ramírez, Erick Joel; Ayala-Cortés, Ana Sofía; Fraga-Hernández, Martha Lizeth; García-Labastida, Laura; Galarza-Delgado, Dionicio Ángel

    2014-01-01

    Mucormycosis (MCM) is a life-threatening infection that carries high mortality rates despite recent advances in its diagnosis and treatment. The objective was to report 14 cases of mucormycosis infection and review the relevant literature. We retrospectively analyzed the demographic and clinical data of 14 consecutive patients that presented with MCM in a tertiary-care teaching hospital in northern Mexico. The mean age of the patients was 39.9 (range 5–65). Nine of the patients were male. Ten patients had diabetes mellitus as the underlying disease, and 6 patients had a hematological malignancy (acute leukemia). Of the diabetic patients, 3 had chronic renal failure and 4 presented with diabetic ketoacidosis. All patients had rhinocerebral involvement. In-hospital mortality was 50%. All patients received medical therapy with polyene antifungals and 11 patients underwent surgical therapy. Survivors were significantly younger and less likely to have diabetes than nonsurvivors, and had higher levels of serum albumin on admission. The clinical outcome of patients with MCM is poor. Uncontrolled diabetes and age are negative prognostic factors. PMID:25210515

  5. Clinical and laboratory features of Nocardia nova.

    PubMed Central

    Wallace, R J; Brown, B A; Tsukamura, M; Brown, J M; Onyi, G O

    1991-01-01

    Recent studies have shown that Nocardia asteroides isolates have five major antibiotic resistance patterns; one of these patterns identifies isolates of Nocardia farcinica. In the current study, we investigated a second pattern characterized by susceptibility to ampicillin and erythromycin. This pattern was seen in 17% of 223 clinical isolates identified by standard techniques as N. asteroides and associated with diseases typical for nocardiae. Biochemically, isolates with this drug pattern were relatively homogeneous and identical to the type strain and previous descriptions of Nocardia nova. The strains studied were unique among nocardiae in having both alpha- and beta-esterase activity (85 and 95%, respectively). However, the arylsulfatase activity at 14 days (75%) and antimicrobial susceptibility patterns, including susceptibility to erythromycin (100%), were the only routinely available methods that would separate N. nova strains from other members of N. asteroides. N. asteroides should be considered a complex because current clinical identification schemes include isolates of N. farcinica and N. nova and may well include additional species. This is the first detailed description of N. nova as a pathogen in humans. PMID:1774244

  6. [Clinical features of malignant hyperthermia crisis].

    PubMed

    Cornet, C; Moeller, R; Laxenaire, M C

    1989-01-01

    Malignant hyperthermia (MH) is a pharmacogenetic disorder. It is classically described as a hypermetabolic state triggered by halogenated anaesthetics and/or depolarizing muscle relaxants. In fact, since Denborough and Lovel's case, it has been shown that MH has a great number of clinical forms. The overwhelming picture of muscular hypercatabolism with fulminating hyperthermia and generalized rigidity is becoming rare. A better knowledge of the first symptoms explains in part the better prognosis: masseter spasm after suxamethonium, an increase in expired CO2 concentration, unexplained tachycardia, ventricular arrhythmias. The use of dantrolene reduced the mortality of MH. The different types of clinical manifestations are due to genetic differences, the concentration of the anaesthetic agent, and the length of time of exposure to the drug. The severity of the episode is linked to environmental factors such as stress, physical exercise, ambient temperature, concomitant use of other drugs. Masseter spasm after suxamethonium is specific for MH, but not pathognomonic. It occurs in 1% of cases in children when using halothane with suxamethonium. However, in those patients who displayed such a spasm, more than 50% had a positive contracture test. Masseter spasm is often associated with severe rhabdomyolysis in patients with muscle dystrophy, especially Duchenne's dystrophy. In the latter case, major cardiac problems may occur at the time of anaesthetic induction. Even if there are no other signs of MH, all patients who have had a masseter spasm must be considered as open to doubt, and should be further explored. MH is often difficult to diagnose in medium severity types.(ABSTRACT TRUNCATED AT 250 WORDS)

  7. Distribution features of biological hazardous pollutants in residential environments in Korea.

    PubMed

    Lee, Cheol Min; Hong, Soo Jong; Kim, Yoon Shin; Park, Gee Yong; Nam Goung, Sun Ju; Kim, Kyung Hwan

    2014-01-01

    This research has been conducted continuously since 2009 as part of a cohort of studies examining relationships between asthma and genetic factors, dietary habits, and environmental factors. Based on data from environmental research on house dust mites and endotoxins, which are widely known as pollutants in bedding that cause asthma in pregnant women and children, this work was conducted to obtain basic data that can be used in future cohort studies that analyze links between distribution of biological hazards and physical features of residential environments. The detection rates of house dust mite allergens, Der p1 and Der f1, were 52.7 and 86.5%, respectively, indicating that Der f1 is a dominant species in domestic indoor environments. According to comparisons between concentrations of house dust mites and endotoxins in bedding of pregnant women and children, Der p1 and endotoxins showed significantly lower concentrations in bedding of pregnant women compared with those in bedding of children, whereas Der f1 showed no significant difference in concentration according to bedding.

  8. Porphyria cutanea tarda: clinical and laboratory features.

    PubMed Central

    Sweeney, G. D.; Jones, K. G.

    1979-01-01

    Eleven patients with porphyria cutanea tarda were studied. Biochemical confirmation of the clinical diagnosis required only determination of the total urine porphyrin concentration in a sample of urine voided on rising in the morning. The patients were divided for convenience of discussion into four groups differing in age, sex and etiologic factors. Of the six patients in whom a liver biopsy was done one was shown to have micronodular cirrhosis. Except for a modest elevation in the serum glutamic oxaloacetic transaminase values when the patients were first seen, no evidence was found for liver disease apart from the presence of porphyria cutanea tarda. One patient recovered solely by abstaining from alcohol consumption. Five patients underwent phlebotomy; their iron stores had been found to be between 2 and 3 g. Decreasing urine porphyrin values correlated well with decreasing serum ferritin values during the course of phlebotomy. Porphyria cutanea tarda, which is due to a deficiency of uroporphyrinogen decarboxylase, is manifested in association with alcohol abuse, estrogen therapy, exposure to chlorinated hydrocarbons or increased tissue iron stores, or a combination of these factors. Although relatively uncommon, this condition raises important and unresolved issues regarding the hepatotoxicity of alcohol, estrogens, chlorinated hydrocarbons and iron. PMID:427687

  9. Clinical features of Lassa fever in Liberia.

    PubMed

    Frame, J D

    1989-01-01

    Two hundred thirteen cases of Lassa fever (LF) were diagnosed by virus isolation and seroconversion at Curran Lutheran Hospital in Zorzor, Liberia, between July 1980 and April 1986. An additional 40 cases of probable and presumptive LF were diagnosed on the basis of single serum samples. Of the 246 assessable patients, 23 (9%) died; no data were available for seven patients. Five (16%) of 32 pregnant women and three (43%) of seven immediately postpartum women died. Four (26%) of 15 children less than 12 years died. Case-fatality rates among 125 nonpregnant women and 67 men were approximately 6%. Among 150 patients studied in detail, the case-fatality rate was also 9%. Seventeen (11%) of these patients had abnormal bleeding; of these, six (35%) died. Most platelet counts were at low normal to mildly depressed levels. However, serial counts in seven patients suggested a decrease on about days 10-12 of illness. The symptoms of LF in Liberia are those of a viral syndrome. Edema, sometimes marked, is noted in seriously ill patients. A great variation in mortality and incidence of abnormal bleeding is recorded in reported series of LF; it appears that hemorrhage is a marker for cases with a high mortality. The incidence and severity of hearing defects in LF outbreaks vary. Elucidation of a number of clinical problems in LF requires more information on how strain differences affect the pattern of illness.

  10. [Oral candidiasis: clinical features and control].

    PubMed

    Yamamoto, Tetsuya

    2010-10-01

    Candidiasis is the most commonly encountered fungal infection, and oral candidiasis is often observed as a local opportunistic infection. Oral candidiasis is clinically divided into three types: acute forms, chronic forms, and Candida-associated lesions. Candida adhesion and multiplication are largely regulated by the local and systemic factors of the host. The local factors include impairment of the oral mucosal integrity, which is usually impaired by hyposalivation, anticancer drugs/radiation for head and neck cancers, denture wearing, a decrease in the oral bacterial population, and poor oral hygiene. Among Candida species, oral candidiasis is mostly caused by Candida albicans (C. albicans), C. glabrata, or C. tropicalis. Oral Candida induces a variety of symptoms, such as oral mucosal inflammation manifesting as an uncomfortable feeling, pain, erythema, erosion, taste abnormalities, and hyperplasia of the oral mucosa. Candida overgrowth in the oral cavity may disseminate to distant organs. Therefore, in order to avoid the sequelae of systemic candidiasis, oral candidiasis should be rapidly controlled. Oral candidiasis is usually treated by the local application of antifungal drugs. However, oral candidiasis occasionally escapes the control of such local treatment due to the development of multi-drug resistant Candida strains and species or due to the suppression of salivation or cellular immune activity. When drug-resistant strains are suspected as the pathogens and when the host is generally compromised, the oral administration of combinations of antifungal drugs, enhancement of cellular immune activity, and improvement of the nutritional condition are recommended.

  11. 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.

  12. 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.

  13. Polymicrobial Infective Endocarditis: Clinical Features and Prognosis

    PubMed Central

    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

    2015-01-01

    Abstract 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

  14. Clinical Features of Lysosomal Acid Lipase Deficiency

    PubMed Central

    Burton, Barbara K.; Deegan, Patrick B.; Enns, Gregory M.; Guardamagna, Ornella; Horslen, Simon; Hovingh, Gerard K.; Lobritto, Steve J.; Malinova, Vera; McLin, Valerie A.; Raiman, Julian; Di Rocco, Maja; Santra, Saikat; Sharma, Reena; Sykut-Cegielska, Jolanta; Whitley, Chester B.; Eckert, Stephen; Valayannopoulos, Vassili; Quinn, Anthony G.

    2015-01-01

    Abstract Objective: The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults. Methods: Investigators reviewed medical records of LAL D patients ages ≥5 years, extracted historical data, and obtained prospective laboratory and imaging data on living patients to develop a longitudinal dataset. Results: A total of 49 patients were enrolled; 48 had confirmed LAL D. Mean age at first disease-related abnormality was 9.0 years (range 0–42); mean age at diagnosis was 15.2 years (range 1–46). Twenty-nine (60%) were male patients, and 27 (56%) were <20 years of age at the time of consent/assent. Serum transaminases were elevated in most patients with 458 of 499 (92%) of alanine aminotransferase values and 265 of 448 (59%) of aspartate aminotransferase values above the upper limit of normal. Most patients had elevated low-density lipoprotein (64% patients) and total cholesterol (63%) at baseline despite most being on lipid-lowering therapies, and 44% had high-density lipoprotein levels below the lower limit of normal. More than half of the patients with liver biopsies (n = 31, mean age 13 years) had documented evidence of steatosis (87%) and/or fibrosis (52%). Imaging assessments revealed that the median liver volume was ∼1.15 multiples of normal (MN) and median spleen volume was ∼2.2 MN. Six (13%) patients had undergone a liver transplant (ages 9–43.5 years). Conclusion: This study provides the largest longitudinal case review of patients with LAL D and confirms that LAL D is predominantly a pediatric disease causing early and progressive hepatic dysfunction associated with dyslipidemia that often leads to liver failure and transplantation. PMID:26252914

  15. Seroepidemiology of Toxocariasis and Its Clinical Implications in Gwangju and Jeonnam-province, Korea.

    PubMed

    Won, Eun Jeong; Kim, Jin; Shin, Myung-Geun; Shin, Jong Hee; Suh, Soon Pal; Ryang, Dong Wook

    2015-07-01

    We investigated the seroepidemiological, clinical, and laboratory characteristics of patients suspected to have toxocariasis in Gwangju and Jeonnam-province, Korea. In total, 228 specimens were analyzed for anti-Toxocara canis IgG at two university hospitals from 2010 to 2012. The overall seropositive rate was 67.1%, and the seropositive rates among the eosinophilic and non-eosinophilic groups were 76.1% (105/138) and 53.3% (48/90), respectively. Risk factors for eosinophilia and toxocariasis were male sex (odds ratios [OR]=2.632 and 3.477, respectively) and a history of ingesting raw meat (OR=2.884 and 3.274, respectively), especially raw cow liver (OR=2.089 and 10.038, respectively). T. canis seropositivity (OR=5.807, P=0.004) and a history of consuming raw cow liver (OR=2.766, P=0.052) were risk factors for organ involvement. The anti-T. canis IgG level showed weakly positive correlations with eosinophil counts (r=0.234, P<0.001) and the duration of eosinophilia (r=0.155, P=0.019). Although limited to the regions of Gwangju and Jeonnam-province, this study supports the opinion that toxocariasis is a reasonable focus as a cause of eosinophilia and that it is also associated with organ involvement.

  16. Clinical characteristics of constrictive pericarditis diagnosed by echo-Doppler technique in Korea.

    PubMed Central

    Yang, H. S.; Song, J. K.; Song, J. M.; Kang, D. H.; Lee, C. W.; Nam, G. B.; Choi, K. J.; Kim, Y. H.; Hong, M. K.; Kim, J. J.; Park, S. W.; Park, S. J.; Song, H.; Lee, J. W.; Song, M. G.

    2001-01-01

    A retrospective analysis of clinical data of 71 patients with constrictive pericarditis (CP) diagnosed by echo-Doppler technique (mean age, 49+/-17) was done. In 27 patients (38%), the etiology was unknown, and the three most frequent identifiable causes were tuberculosis (23/71, 32%), cardiac surgery (8/71, 11%), and mediastinal irradiation (6/71, 9%). Pericardiectomy was performed in 35 patients (49%) with a surgical mortality of 6% (2/35), and 11 patients (15%, 11/ 71) showed complete resolution of constrictive physiology with medical treatment. Patients with transient CP were characterized by absence of pericardial calcification, shorter symptom duration, and higher incidence of fever, weight loss, and tuberculosis. The 5-yr survival rates of patients with transient CP and those undergoing pericardiectomy were 100% and 85+/-6%, respectively, which were significantly higher than that of patients without undergoing pericardiectomy (33+/-17%, p=0.0083). Mediastinal irradiation, higher functional class, low voltage in ECG, low serum albumin, and old age were the independent variables associated with a higher mortality. Tuberculosis is still the most important etiology of CP in Korea, and not infrequently, it may cause transient CP. Early diagnosis and decision-making using follow-up echocardiography are crucial to improve the prognosis of patients with CP. PMID:11641523

  17. A hybrid feature selection algorithm integrating an extreme learning machine for landslide susceptibility modeling of Mt. Woomyeon, South Korea

    NASA Astrophysics Data System (ADS)

    Vasu, Nikhil N.; Lee, Seung-Rae

    2016-06-01

    An ever-increasing trend of extreme rainfall events in South Korea owing to climate change is causing shallow landslides and debris flows in mountains that cover 70% of the total land area of the nation. These catastrophic, gravity-driven processes cost the government several billion KRW (South Korean Won) in losses in addition to fatalities every year. The most common type of landslide observed is the shallow landslide, which occurs at 1-3 m depth, and may mobilize into more catastrophic flow-type landslides. Hence, to predict potential landslide areas, susceptibility maps are developed in a geographical information system (GIS) environment utilizing available morphological, hydrological, geotechnical, and geological data. Landslide susceptibility models were developed using 163 landslide points and an equal number of nonlandslide points in Mt. Woomyeon, Seoul, and 23 landslide conditioning factors. However, because not all of the factors contribute to the determination of the spatial probability for landslide initiation, and a simple filter or wrapper-based approach is not efficient in identifying all of the relevant features, a feedback-loop-based hybrid algorithm was implemented in conjunction with a learning scheme called an extreme learning machine, which is based on a single-layer, feed-forward network. Validation of the constructed susceptibility model was conducted using a testing set of landslide inventory data through a prediction rate curve. The model selected 13 relevant conditioning factors out of the initial 23; and the resulting susceptibility map shows a success rate of 85% and a prediction rate of 89.45%, indicating a good performance, in contrast to the low success and prediction rate of 69.19% and 56.19%, respectively, as obtained using a wrapper technique.

  18. Psoriasis: Epidemiology, clinical features, co-morbidities, and clinical scoring

    PubMed Central

    Dogra, Sunil; Mahajan, Rahul

    2016-01-01

    On the basis of current evidence derived from hospital-based studies, mostly from North India, the prevalence of psoriasis in adults varies from 0.44 to 2.8%, with a much lower prevalence in children. The peak age at onset in adults is in the third and fourth decade of life, with a slight male preponderance. It is recommended that population-based large epidemiologic studies should be undertaken in different parts of the country for estimating the correct prevalence of psoriasis in general population. Chronic plaque-type psoriasis is the most common morphologic presentation of psoriasis, accounting for more than 90% of all cases. Other morphologic variants that deserve special mention include palmoplantar psoriasis, pustular psoriasis, and recalcitrant psoriasis. For epidemiologic purposes, psoriasis can be classified into early and late onset psoriasis. Psoriasis can be classified on the basis of morphology and extent of involvement into localized and widespread disease. For the purpose of clinical trials, psoriasis may be classified as mild psoriasis, moderate psoriasis, and severe psoriasis. The literature shows that there is a significant risk of psoriatic arthritis (7–48%) in patients with plaque-type psoriasis. Hence, it is recommended to evaluate for its presence by detailed history taking and clinical examination, and if necessary, by appropriate radiological investigations. Evidence on the association between plaque-type psoriasis and cardiovascular disease risk factors and ischemic heart disease isinconsistent. On the basis ofavailable evidence, it is prudent to proactively look for metabolic syndrome, dyslipidemia, and obesity, especially in patientswith severe psoriasis (Level 1+ evidence based on systematic reviews and meta-analysis). Based on the current evidence, the psoriasis area severity index appears to be the most valid and reproducible clinical severity score in the management of adult patients with plaque-type psoriasis. PMID:27990381

  19. Characterization and Antimicrobial Resistance of Salmonella Typhimurium Isolates from Clinically Diseased Pigs in Korea.

    PubMed

    Oh, Sang-Ik; Kim, Jong Wan; Chae, Myeongju; Jung, Ji-A; So, Byungjae; Kim, Bumseok; Kim, Ha-Young

    2016-11-01

    This study investigated the prevalence of Salmonella enterica serovar and antimicrobial resistance in Salmonella Typhimurium isolates from clinically diseased pigs collected from 2008 to 2014 in Korea. Isolates were also characterized according to the presence of antimicrobial resistance genes and pulsed-field gel electrophoresis patterns. Among 94 Salmonella isolates, 81 (86.2%) were identified as being of the Salmonella Typhimurium serotype, followed by Salmonella Derby (6 of 94, 6.4%), Salmonella 4,[5],12:i:- (4 of 94, 4.3%), Salmonella Enteritidis (2 of 94, 2.1%), and Salmonella Brandenburg (1 of 94, 1.1%). The majority of Salmonella Typhimurium isolates were resistant to tetracycline (92.6%), followed by streptomycin (88.9%) and ampicillin (80.2%). Overall, 96.3% of Salmonella Typhimurium isolates showed multidrug-resistant phenotypes and commonly harbored the resistance genes blaTEM (64.9%), flo (32.8%), aadA (55.3%), strA (58.5%), strB (58.5%), sulII (53.2%), and tetA (61.7%). The pulsed-field gel electrophoresis analysis of 45 Salmonella Typhimurium isolates from individual farms revealed 27 distinct patterns that formed one major and two minor clusters in the dendrogram analysis, suggesting that most of the isolates (91.1%) from diseased pigs were genetically related. These findings can assist veterinarians in the selection of appropriate antimicrobial agents to combat Salmonella Typhimurium infections in pigs. Furthermore, they highlight the importance of continuous surveillance of antimicrobial resistance and genetic status in Salmonella Typhimurium for the detection of emerging resistance trends.

  20. Basic clinical and laboratory features of filoviral hemorrhagic fever.

    PubMed

    Kortepeter, Mark G; Bausch, Daniel G; Bray, Mike

    2011-11-01

    The filoviruses Marburg and Ebola cause severe hemorrhagic fever (HF) in humans. Beginning with the 1967 Marburg outbreak, 30 epidemics, isolated cases, and accidental laboratory infections have been described in the medical literature. We reviewed those reports to determine the basic clinical and laboratory features of filoviral HF. The most detailed information was found in descriptions of patients treated in industrialized countries; except for the 2000 outbreak of Ebola Sudan HF in Uganda, reports of epidemics in central Africa provided little controlled or objective clinical data. Other than the case fatality rate, there were no clear differences in the features of the various filovirus infections. This compilation will be of value to medical workers responding to epidemics and to investigators attempting to develop animal models of filoviral HF. By identifying key unanswered questions and gaps in clinical data, it will help guide clinical research in future outbreaks.

  1. The clinical and genetic features of Huntington disease.

    PubMed

    Sturrock, Aaron; Leavitt, Blair R

    2010-12-01

    Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that usually presents in adulthood with characteristic motor and cognitive features and with variable and diverse psychiatric disturbances. Following the discovery of the causative defect in the HTT gene in 1993, great advances in understanding the pathogenesis of HD have been made, yet no effective disease-modifying therapy has been identified. In this new era of HD research, we have seen the emergence of a number of large clinical trials, the systematic search for novel biomarkers and the recent initiation of the first pre-manifest HD clinical studies. In this review, we seek to provide an overview of the clinical and genetic features of HD together with a summary of clinical research at this time.

  2. Adverse Events Associated with Metal Contamination of Traditional Chinese Medicines in Korea: A Clinical Review

    PubMed Central

    Kim, Hyunah; Hawes, Emily M.

    2014-01-01

    This study was performed to review studies carried out in Korea reporting toxic reactions to traditional Chinese medicines (TCMs) as a result of heavy metal contamination. PubMed (1966-August 2013) and International Pharmaceutical Abstracts (1965-August 2013) were searched using the medical subject heading terms of "Medicine, Chinese Traditional," "Medicine, Korean Traditional," "Medicine, Traditional," "Metals, Heavy," and "Drug Contamination". For Korean literature, Korea Med (http://www.koreamed.org), the Korean Medical Database (http://kmbase.medric.or.kr), National Discovery for Science Leaders (www.ndsl.kr), Research Information Sharing Service (http://www.riss.kr), and Google Scholar were searched using the terms "Chinese medicine," "Korean medicine," "herbal medicine," and "metallic contamination" in Korean. Bibliographies of case reports and case series, identified using secondary resources, were also utilized. Only literature describing cases or studies performed in Korea were included. Case reports identified clear issues with heavy metal, particularly lead, contamination of TCMs utilized in Korea. No international standardization guidelines for processing, manufacturing and marketing of herbal products exist. Unacceptably high levels of toxic metals can be present in TCM preparations. Health care providers and patients should be educated on the potential risks associated with TCMs. International advocacy for stricter standardization procedures for production of TCMs is warranted. PMID:25048473

  3. Adverse events associated with metal contamination of traditional chinese medicines in Korea: a clinical review.

    PubMed

    Kim, Hyunah; Hughes, Peter J; Hawes, Emily M

    2014-09-01

    This study was performed to review studies carried out in Korea reporting toxic reactions to traditional Chinese medicines (TCMs) as a result of heavy metal contamination. PubMed (1966-August 2013) and International Pharmaceutical Abstracts (1965-August 2013) were searched using the medical subject heading terms of "Medicine, Chinese Traditional," "Medicine, Korean Traditional," "Medicine, Traditional," "Metals, Heavy," and "Drug Contamination". For Korean literature, Korea Med (http://www.koreamed.org), the Korean Medical Database (http://kmbase.medric.or.kr), National Discovery for Science Leaders (www.ndsl.kr), Research Information Sharing Service (http://www.riss.kr), and Google Scholar were searched using the terms "Chinese medicine," "Korean medicine," "herbal medicine," and "metallic contamination" in Korean. Bibliographies of case reports and case series, identified using secondary resources, were also utilized. Only literature describing cases or studies performed in Korea were included. Case reports identified clear issues with heavy metal, particularly lead, contamination of TCMs utilized in Korea. No international standardization guidelines for processing, manufacturing and marketing of herbal products exist. Unacceptably high levels of toxic metals can be present in TCM preparations. Health care providers and patients should be educated on the potential risks associated with TCMs. International advocacy for stricter standardization procedures for production of TCMs is warranted.

  4. 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…

  5. 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…

  6. Differences in Clinical Outcomes Between Patients With ST-Elevation Versus Non-ST-Elevation Acute Myocardial Infarction in Korea

    PubMed Central

    Sim, Doo Sun; Kim, Ju Han

    2009-01-01

    In Korea, the incidence of acute myocardial infarction has been increasing rapidly. Twelve-month clinical outcomes for 13,133 patients with acute myocardial infarction enrolled in the nationwide prospective Korea Acute Myocardial Infarction Registry study were analyzed according to the presence or absence of ST-segment elevation. Patients with ST-segment elevation myocardial infarction (STEMI) were younger, more likely to be men and smokers, and had poorer left ventricular function with a higher incidence of cardiac death compared to patients with non-ST-segment elevation myocardial infarction (NSTEMI). NSTEMI patients had a higher prevalence of 3-vessel and left main coronary artery disease with complex lesions, and were more likely to have co-morbidities. The in-hospital and 1-month survival rates were higher in NSTEMI patients than in STEMI patients. However, 12-month survival rates was not different between the two groups. In conclusion, NSTEMI patients have worse clinical outcomes than STEMI patients, and therefore should be treated more intensively during clinical follow-up. PMID:19949634

  7. [Clinical features of pediatric multiple sclerosis: epidemiology and treatment].

    PubMed

    Torisu, Hiroyuki; Hara, Toshiro

    2014-11-01

    Multiple sclerosis (MS) in children is essentially not different from MS in adults; however, in children, it is sometimes difficult to distinguish MS from other demyelinating diseases. The main reason for this is that acute encephalitis/encephalopathy associated with infectious diseases, especially acute disseminated encephalomyelitis (ADEM), often causes demyelinating events in the central nervous system in childhood, and that the demyelinating episodes of MS in younger children clinically resemble ADEM events. Therefore, a number of studies on pediatric demyelinating diseases have been conducted to elucidate the clinical features of pediatric MS. In this article, the clinical features of pediatric MS in Japan were reviewed on the basis of the results of a nationwide survey as well as those in other countries.

  8. Clinical and diagnostic features and treatment of giardiasis.

    PubMed

    Begaydorova, R Kh; Nasakaeva, G E; Tabagari, S I; Iukhnevich, E A; Alshinbekova, G K

    2014-11-01

    Giardia is the most common causes of protozoan diarrhea that lead to significant morbidity and mortality worldwide. Giardiasis can be cause of disturbance of host immune response. The treatment of Giardiasis is unsuccessful in some cases. The purpose of this study was to determine the clinical features and the content of secretory immunoglobulin A (sIgA) among adults and to evaluate efficiency of new plant preparation "Sausalin". The clinical studies were conducted in Karaganda Regional Infection Hospital (Kazakhstan). 250 patients with giardiasis were randomly assigned to receive sausalin at a dose 720 mg/day or ornidazole at 1500 mg/day. Clinical symptoms of giardisis and efficiency of treatment were evaluated. Protozoal clearance rate and clinical symptoms were assessed. Stool samples were collected from 40 patients and examined the content of sIgA. Our study found the prevalence of abdominal pain, dyspeptic syndrome and the symptoms of intoxication in patients with giardiasis. The increase the level of sIgA was detected, especially in females (88 mg/l). Sausalin was more effectiveness than ornidazole. After the treatment, the clearance rate of giardia (85.71% vs. 42.19%; P<0.05) and the clinical efficacy were significantly higher in the sausalin-treated group than in the ornidazole-treated group. The features of clinic manifestations of giardiasis were identified in population of Kazakhstan. Our data suggest the higher level of sIgA was significantly associated with features of clinic manifestations that the participant had. Treatment with sausalin was more effective than treatment with ornidazole. Further research is needed to explain the existence relationship between Giardia infection and host immune response.

  9. 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.

  10. 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.

  11. Psoriasis: epidemiology, clinical features, and quality of life

    PubMed Central

    Langley, R; Krueger, G; Griffiths, C

    2005-01-01

    Psoriasis is a common chronic, recurrent, immune mediated disease of the skin and joints. It can have a significant negative impact on the physical, emotional, and, psychosocial wellbeing of affected patients. Psoriasis is found worldwide but the prevalence varies among different ethnic groups. It has a strong genetic component but environmental factors such as infections can play an important role in the presentation of disease. There are several clinical cutaneous manifestations of psoriasis but most commonly the disease presents as chronic, symmetrical, erythematous, scaling papules and plaques. The epidemiology, clinical features, and impact on quality of life of psoriasis are reviewed. PMID:15708928

  12. Acute hepatitis E presenting with clinical feature of autoimmune hepatitis

    PubMed Central

    Patel, Ishan; Companioni, Rafael Ching; Bansal, Raghav; Vyas, Neil; Catalano, Carmine; Aron, Joshua; Walfish, Aaron

    2016-01-01

    A 32-year-old immigrant man presented with new onset jaundice. His past medical history was significant for type 2 diabetes mellitus, hypertension, and hyperlipidemia. His initial laboratory finding and liver biopsy were suggestive of autoimmune hepatitis (AIH). The plan was to start steroids pending negative results for viral serology, but it came back positive for hepatitis E virus. The patient's liver function test and clinical condition improved significantly on conservative management over a period of 1 month. Therefore, we suggest testing for hepatitis E especially in immigrants or recent travelers to endemic areas who presents with clinical features suggestive of AIH. PMID:27987286

  13. Protocol of a Thyroid Cancer Longitudinal Study (T-CALOS): a prospective, clinical and epidemiological study in Korea

    PubMed Central

    Lee, Kyu Eun; Park, Young Joo; Cho, Belong; Hwang, Yunji; Choi, June Young; Kim, Su-jin; Choi, Hoonsung; Choi, Ho-Chun; An, Ah Reum; Park, Do Joon; Park, Sue K; Youn, Yeo-Kyu

    2015-01-01

    Introduction Thyroid cancer incidence in Korea is the highest in the world and has recently increased steeply. However, factors contributing to this sudden increase have not been fully elucidated, and few studies have explored the postoperative prognosis. The Thyroid Cancer Longitudinal Study (T-CALOS) was initiated with three aims: (1) to identify factors predicting quality of life, recurrence, and incidence of other diseases after thyroid cancer treatments; (2) to investigate environmental exposure to radiation, toxicants and molecular factors in relation to tumour aggressiveness; and (3) to evaluate gene–environment interactions that increase thyroid cancer in comparison with healthy participants from a pool of nationwide population-based healthy examinees. Methods and analysis T-CALOS enrols patients with incident thyroid cancer from three general hospitals, Seoul National University Hospital, Seoul National University Bundang Hospital and National Medical Center, Korea. The study is an ongoing project expecting to investigate 5000 patients with thyroid cancer up until 2017. Healthy examinees with a normal thyroid confirmed by sonography have been enrolled at the Healthy Examination Center at Seoul National University Hospital. We are also performing individual matching using two nationwide databases that are open to the public. Follow-up information is obtained at patients’ clinical visits and by linkage to the national database. For statistical analysis, we will use conditional logistic regression models and a Cox proportional hazard regression model. A number of stratifications and sensitivity analyses will be performed to confirm the results. Ethics and dissemination Based on a large sample size, a prospective study design, comprehensive data collection and biobank, T-CALOS has been independently peer-reviewed and approved by the three hospitals and two funding sources (National Research Foundation of Korea and Korean Foundation for Cancer Research

  14. Systemic lupus erythematosus in Asturias, Spain: clinical and serologic features.

    PubMed

    Gómez, Jesús; Suárez, Ana; López, Patricia; Mozo, Lourdes; Díaz, José Bernardino; Gutiérrez, Carmen

    2006-05-01

    Asturias is an autonomous region in the north of Spain with historical and anthropologic peculiarities. In the current report, we examine the main clinical and immunologic features of 363 patients with systemic lupus erythematosus (SLE), virtually the entire population of SLE patients in Asturias. We constructed a database with the clinical and immunologic features of all patients fulfilling the American College of Rheumatology criteria, based on the review of hospital records corresponding to blood samples received for antinuclear antibodies testing since 1992. Arthritis was the most frequently observed main clinical feature and neuropathy was the rarest. Male patients had a disease more frequently characterized by serositis (p<0.05) and neurologic disorder (p<0.01) than females, while children presented malar rash (p<0.05), fever (p<0.05), and kidney involvement (p<0.01) more often than adults. Late-onset patients were characterized by lower frequencies of malar rash (p<0.01), neurologic disorder (p<0.05), alopecia (p<0.01), and lymphadenopathy (p<0.05) than young adults. Numerous direct and inverse significant associations were found among clinical and immunologic features. The most relevant significant associations were neurologic disorder with lupus anticoagulant (p<0.01); kidney involvement with serositis (p<0.01) and DNA antibodies (p<0.05); and thrombosis with DNA antibodies (p<0.05), cardiolipin antibodies (p<0.01), and lupus anticoagulant (p<0.01). A low mortality was found in our series, although kidney involvement (p<0.05) and cardiolipin antibodies (p<0.05) are factors associated with poor survival.

  15. 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.

  16. [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

  17. Clinical and Laboratory Features Distinguishing Juvenile Polymyositis and Muscular Dystrophy

    PubMed Central

    MAMYROVA, GULNARA; KATZ, JAMES D.; JONES, ROBERT V.; TARGOFF, IRA N.; LACHENBRUCH, PETER A.; JONES, OLCAY Y.; MILLER, FREDERICK W.; RIDER, LISA G.

    2016-01-01

    Objective To differentiate juvenile polymyositis (PM) and muscular dystrophy, both of which may present with chronic muscle weakness and inflammation. Methods We studied 39 patients with probable or definite juvenile PM and 9 patients with muscular dystrophies who were initially misdiagnosed as having juvenile PM. Differences in demographic, clinical, and laboratory results; outcomes; and treatment responses were evaluated by Fisher’s exact and rank sum tests. Random forests classification analysis and logistic regression were performed to examine significant differences in multivariable models. Results Clinical features and serum muscle enzyme levels were similar between juvenile PM and dystrophy patients, except 89% of dystrophy patients had muscle atrophy compared with 46% of juvenile PM patients. Dystrophy patients had a longer delay to diagnosis (median 12 versus 4 months) and were less frequently hospitalized than juvenile PM patients (22% versus 74%). No dystrophy patients, but 54% of juvenile PM patients, had a myositis autoantibody. Dystrophy patients more frequently had myopathic features on muscle biopsy, including diffuse variation of myofiber size, fiber hypertrophy, and myofiber fibrosis (44–100% versus 8–53%). Juvenile PM patients more frequently had complex repetitive discharges on electromyography and a complete response to treatment with prednisone or other immunosuppressive agents than dystrophy patients (44% versus 0%). Random forests analysis revealed that the most important features in distinguishing juvenile PM from dystrophies were myositis autoantibodies, clinical muscle atrophy, and myofiber size variation on biopsy. Logistic regression confirmed muscle atrophy, myofiber fibrosis, and hospitalization as significant predictors. Conclusion Muscular dystrophy can present similarly to juvenile PM. Selected clinical and laboratory features are helpful in combination in distinguishing these conditions. PMID:23925923

  18. Clinical features of trisomy 12 mosaicism-Report and review.

    PubMed

    Hong, Bo; Zunich, Janice; Openshaw, Amanda; M Toydemir, Reha

    2017-03-27

    Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic features than at birth. Chromosome analysis on peripheral blood revealed a normal female karyotype in 50 metaphases. A concurrent genomic microarray analysis showed trisomy 12 in about 25% of the specimen, which was also confirmed by fluorescence in situ hybridization analysis with the CEP12 probe. Our findings further delineate the clinical features in trisomy 12 mosaicism in liveborns and demonstrate the utility of genomic microarray analysis in identification of mosaic aneuploidies.

  19. Clinical features of 405 Japanese patients with systemic sclerosis.

    PubMed

    Hashimoto, Atsushi; Endo, Hirahito; Kondo, Hirobumi; Hirohata, Shunsei

    2012-04-01

    We aimed to clarify the clinical features of Japanese patients with systemic sclerosis (SSc), especially with reference to organ involvement and autoantibodies. A cohort of 405 patients with SSc who attended our institution from 1973 to 2008 was identified retrospectively. Data on clinical features, including autoantibodies, organ involvement, and overlap of other connective tissue diseases, were obtained by following the medical records until 2009. The percentage of male patients during or after 1990 was greater than that before 1990 (3.9 vs. 10.6%, respectively). Limited cutaneous SSc (lSSc) was twice as frequent as diffuse cutaneous SSc (dSSc). About half of the patients had lung involvement (50.4%), while only 3.2% had scleroderma renal crisis. Male gender was associated with lung involvement, and dSSc was associated with most organ involvements except for pulmonary arterial hypertension (PAH). Anti-Scl-70 antibody was associated with lung or heart involvement, while anti-U1-RNP antibody was only associated with PAH. Conversely, patients with anti-centromere antibody had less organ involvement. SSc-Sjögren overlap syndrome was related to lSSc, further overlapping systemic lupus erythematosus (SLE), and less lung or heart involvement. In conclusion, these results not only confirmed previous reports but revealed several other findings, such as the increased proportion of male patients in recent years and the relationships between clinical features.

  20. Clinical features of drug abuse that reflect genetic risk

    PubMed Central

    Kendler, K. S.; Ohlsson, H.; Sundquist, K.; Sundquist, J.

    2014-01-01

    Background Drug abuse (DA) is a clinically heterogeneous syndrome. Can we, in a large epidemiological sample, identify clinical features of DA cases that index genetic risk? Method Using registration in medical, legal or pharmacy records, we identified four kinds of relative pairs (n =935854) starting with a proband with DA: monozygotic co-twins; full siblings; half-siblings; and cousins. Using linear hazard regression, we examined the interaction between three clinical features of DA in the proband and risk for DA in these four relative pairs, ordered by degree of genetic relationship. Results Increased risk for DA in relatives was robustly predicted by early age at first registration, total number of registrations, and ascertainment in the criminal versus the medical or pharmacy registry. In multivariate models, all three of these variables remained significant and in aggregate strongly predicted DA risk in relatives. The risk for DA in siblings of DA probands in the highest decile of genetic risk predicted by our three indices was more than twice as great as that predicted in siblings of probands in the lowest decile of risk. Conclusions In an epidemiological sample, genetic risk for DA can be substantially indexed by simple clinical and historical variables. PMID:24461082

  1. Prevalence and Clinical Features of Atopic Dermatitis in China

    PubMed Central

    Wang, Xin; Zhao, Da-yu; Shen, Yi-wei

    2016-01-01

    Background. The epidemiology of atopic dermatitis (AD) in Chinese outpatients is yet to be clarified. Objectives. To investigate population-based prevalence and clinical features of AD in Chinese outpatients. Methods. A multicenter cross-sectional study was conducted in outpatients with eczema or dermatitis from 39 tertiary hospitals in 15 provinces. Results. This study included 682 patients diagnosed with AD, with the mean age of 28.8 ± 20.1 years and the median course of 5.3 ± 6.9 years. AD patients had more severe itching (30.4% versus 13.8%, p < 0.001) and clinically suspected bacterial infection (21.7% versus 16.1%, p < 0.001) than those of other types of dermatitis. Older patients were more susceptible to have a history of flexion dermatitis (p < 0.001), bacterial infection (p = 0.005), and severe itching (p < 0.001). Outpatients with clinically suspected bacterial infection had 3.53-fold increased risk of AD than those without it (p < 0.001). The morbidity rate of AD in the (20–25°N) region is 2.86 times higher than that in the (40–45°N) region [OR (95% CI): 0.352 (0.241–0.514), p < 0.001]. Conclusions. AD is characterized by unique clinical/demographic features. Bacterial infection and latitude region may have an impact on the incidence of AD in China. PMID:27957490

  2. 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.

  3. 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

  4. First molecular detection of Borrelia afzelii in clinical samples in Korea.

    PubMed

    Choi, Yeon-Joo; Han, Seung-Hoon; Park, Jin-Mi; Lee, Kyung-Min; Lee, Eun-Mi; Lee, Seung-Hyun; Song, Hyeon-Je; Koh, Young-Sang; Lee, Keun-Wha; Jang, Won-Jong; Park, Kyung-Hee

    2007-01-01

    Borrelia afzelii nucleic acids were detected in the sera of febrile disease patients by a nested PCR that targeted the rrf (5S)-rrl (23S) spacer of B. burgdorferi sensu lato. The B. afzelii-specific DNA fragment was detected in 8 out of 283 sera which were proven to have immunoglobulin G or M antibodies against B. burgdorferi antigens through IFA. The results were further confirmed through restriction fragment length polymorphism and sequencing analysis of the DNA fragments. The results indicated for the first time that Lyme borreliosis is prevalent in Korea.

  5. Intramedullary gangliogliomas: clinical features, surgical outcomes, and neuropathic scoliosis.

    PubMed

    Yang, Chenlong; Li, Guang; Fang, Jingyi; Wu, Liang; Yang, Tao; Deng, Xiaofeng; Xu, Yulun

    2014-01-01

    Intramedullary spinal cord gangliogliomas are rare tumors composed of glial components and ganglion cells. These gangliogliomas are generally considered as slow-growing tumors, corresponding histologically to WHO grade I or II. There are few reports of large case series of intramedullary spinal cord gangliogliomas from a single center. We retrospectively reviewed a consecutive series of 18 patients with pathologically diagnosed ganglioglioma. Clinical manifestations, radiological features, treatment and follow-up data, and concomitant scoliosis were investigated. The mean age at diagnosis was 27.5 years, with a slight female predominance. The primary clinical symptoms were sensorimotor deficits. Magnetic resonance (MR) imaging manifestations varied considerably. Some associated, but not necessary, features were found, such as young age at onset, large tumor dimension, and bony changes. Scoliosis was observed in seven patients. Remnant tumor progression was observed in five patients during the follow-up period, and no deaths occurred. The last neurological evaluation showed functional improvement from preoperative status in five patients. Differential diagnosis of ganglioglioma based on MR images alone is challenging, but the combination of some characteristic features can be helpful. An accurate diagnosis of ganglioglioma depends on pathological criteria. Despite the benign course of ganglioglioma, considerable growth may affect its resectability and prognosis. The extent of resection should be meticulously planned, and the potential risk of recurrence and neurological deterioration should be evaluated. The concomitant scoliosis is noteworthy.

  6. The Clinical Features of Myositis-Associated Autoantibodies: a Review.

    PubMed

    Gunawardena, Harsha

    2017-02-01

    The idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases traditionally defined by clinical manifestations including skeletal muscle weakness, skin rashes, elevated skeletal muscle enzymes, and neurophysiological and/or histological evidence of muscle inflammation. Patients with myositis overlap can develop other features including parenchymal lung disease, inflammatory arthritis, gastrointestinal manifestations and marked constitutional symptoms. Although patients may be diagnosed as having polymyositis (PM) or dermatomyositis (DM) under the IIM spectrum, it is quite clear that disease course between subgroups of patients is different. For example, interstitial lung disease may predominate in some, whereas cutaneous complications, cancer risk, or severe refractory myopathy may be a significant feature in others. Therefore, tools that facilitate diagnosis and indicate which patients require more detailed investigation for disease complications are invaluable in clinical practice. The expanding field of autoantibodies (autoAbs) associated with connective tissue disease (CTD)-myositis overlap has generated considerable interest over the last few years. Using an immunological diagnostic approach, this group of heterogeneous conditions can be separated into a number of distinct clinical phenotypes. Rather than diagnose a patient as simply having PM, DM or overlap CTD, we can define syndromes to differentiate disease subsets that emphasise clinical outcomes and guide management. There are now over 15 CTD-myositis overlap autoAbs found in patients with a range of clinical manifestations including interstitial pneumonia, cutaneous disease, cancer-associated myositis and autoimmune-mediated necrotising myopathy. This review describes their diagnostic utility, potential role in disease monitoring and response to treatment. In the future, routine use of these autoAb will allow a stratified approach to managing this complex set of conditions.

  7. Obesity, age, ethnicity, and clinical features of prostate cancer patients

    PubMed Central

    Wu, Victor J; Pang, Darren; Tang, Wendell W; Zhang, Xin; Li, Li; You, Zongbing

    2017-01-01

    Approximately 36.5% of the U.S. adults (≥ 20 years old) are obese. Obesity has been associated with type 2 diabetes mellitus, cardiovascular disease, stroke, and several types of cancer. The present study included 1788 prostate cancer patients who were treated with radical prostatectomy at the Ochsner Health System, New Orleans, Louisiana, from January, 2001 to March, 2016. The patient’s medical records were retrospectively reviewed. Body mass index (BMI), age, ethnicity (Caucasians versus African Americans), clinical stage, Gleason score, and prostate-specific antigen (PSA) levels were retrieved. The relative risk of the patients was stratified into low risk and high risk groups. Associative analyses found that BMI was associated with age, clinical stage, Gleason score, but not ethnicity, PSA levels, or the relative risk in this cohort. Age was associated with ethnicity, clinical stage, Gleason score, and PSA levels, as well as the relative risk. Ethnicity was associated with Gleason score and PSA levels as well as the relative risk, but not clinical stage. These findings suggest that obesity is associated with advanced prostate cancer with stage T3 or Gleason score ≥ 7 diseases, and age and ethnicity are important factors that are associated with the clinical features of prostate cancer patients. PMID:28337464

  8. Clinical features and teratogenic mechanisms of congenital absence of digits.

    PubMed

    Ogino, Toshihiko

    2007-08-01

    To have a better understanding of classification of congenital hand anomalies, clinical features and teratogenic mechanisms of congenital absence of digits including ulnar and radial deficiencies, cleft hand, symbrachydactyly and constriction band were reviewed. There seemed to be four different teratogenic mechanisms of congenital absence of digits. Ulnar and radial deficiencies have the same clinical features and the cause of these deficiencies is closely related to a deficit of mesenchymal cells in the limb-bud due to impairment before the formation of the limb-bud. Cleft hand, central polydactyly and osseous syndactyly were induced by the same treatment at the same developmental stage in rats. Roentgenograms of the clinical cases and skeletal changes of the anomalies in rats appear to demonstrate that cleft hand formation proceeds from osseous syndactylies and central polydactylies. The teratogenic mechanism of a cleft hand seemed to be failure of induction of digital rays in the hand plate. The sequence of anomalies from brachysyndactyly, or the atypical cleft hand, to the congenital amputation, can be regarded as equivalent to the category of transverse deficiency that is bony dysplasia of the hand. Congenital constriction ring syndrome appears after the formation of the digital rays.

  9. 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.

  10. 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

  11. Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

    PubMed Central

    Maggi, Lorenzo; Carboni, Nicola; Bernasconi, Pia

    2016-01-01

    LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing. Laminopathies are associated with a wide range of disease phenotypes, including neuromuscular, cardiac, metabolic disorders and premature aging syndromes. The most frequent diseases associated with mutations in the LMNA gene are characterized by skeletal and cardiac muscle involvement. This review will focus on genetics and clinical features of laminopathies affecting primarily skeletal muscle. Although only symptomatic treatment is available for these patients, many achievements have been made in clarifying the pathogenesis and improving the management of these diseases. PMID:27529282

  12. [Clinical radiographic features of basilar impression (author's transl)].

    PubMed

    Scotti, G; Redaelli, M R

    1978-09-01

    After a review of the literature and an analysis of the clinical and radiographic features of basilar impression (b.i.) the authors describe 27 personal cases. In 6 b.i. was present in its pure form and in 21 it was associated with other anomalies at the cranio-vertebral junction. Because of the frequent misdiagnosis with multiple sclerosis or other chronic neurologic diseases and because of the possible improvement of symptoms following decompressive occipital craniectomy and cervical laminectomy, the importance of a correct and complete radiographic study of the cranio-vertebral junction in these cases is stressed.

  13. Uncovering Clinical Features of De Novo Philadelphia Positive Myelodysplasia

    PubMed Central

    Armas, Aristides; Chen, Chen; Mims, Martha

    2017-01-01

    Myelodysplastic syndrome (MDS) is cytogenetically heterogeneous and retains variable risk for acute myeloid leukemia transformation. Though not yet fully understood, there is an association between genetic abnormalities and defects in gene expression. The functional role for infrequent cytogenetic alteration remains unclear. An uncommon chromosomic abnormality is the presence of the Philadelphia (Ph) chromosome. Here, we report a patient with Ph+ MDS treated with low dose Dasatinib who achieved hematologic response for 7 months. In addition, we also examined the English literature on all de novo Ph + MDS cases between 1996 and 2015 to gain insight into clinical features and outcome. PMID:28321349

  14. Clinical features of paroxysmal kinesigenic dyskinesia: report of 24 cases.

    PubMed

    Sun, Wei; Li, Jianing; Zhu, Yulan; Yan, Xiaobo; Wang, Weizhi

    2012-12-01

    Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and is characterized by involuntary, intermittent movements induced by sudden movements. Here, we describe 24 patients with PKD, whose clinical data were analyzed. The attacks of involuntary movements were all short lasting, and could involve extremities, trunk, neck, or face without alteration of consciousness. The motor function was normal between attacks, and in some cases, attacks could be evoked during examination. Most patients had normal electroencephalogram (EEG) and neuroimaging results, but 2 cases had abnormal EEGs, and another 2 cases had bilateral calcification of basal ganglion on brain computed tomography (CT) scans. Previous history of misdiagnosis was a predominant feature, while treatments based on misdiagnosis sometimes did lead to improvement. Here, we discuss the clinical characteristics, especially the abnormalities of investigations and misdiagnosis, and recent insights into the pathophysiology of PKD.

  15. Clinical Features and Extraintestinal Manifestations of Crohn Disease in Children

    PubMed Central

    Lee, Young Ah; Chun, Peter; Hwang, Eun Ha; Mun, Sang Wook; Lee, Yeoun Joo

    2016-01-01

    Purpose The aim of this study was to investigate the clinical features and extraintestinal manifestations (EIMs) of Crohn disease (CD) in Korean pediatric patients. Methods The medical records of 73 children diagnosed with CD were retrospectively reviewed. Data regarding baseline demographic and clinical characteristics, including CD phenotype at diagnosis based on the Montreal classification, and clinical features and course of EIMs were investigated. Results Fifty-two (71.2%) of the patients were males. The mean age of the patients was 12.5 years. The mean follow-up period was 3.4 years. The disease location was ileal in 3 (4.1%) of the patients, colonic in 13 (17.8%), ileocolonic in 56 (76.7%). The clinical behavior was inflammatory in 62 (84.9%) of the patients, stricturing in 8 (11.0%), and penetrating in 3 (4.1%). Perianal abscesses or fistulas were found in 37 (50.7%) of the patients. EIMs observed during the study period were anal skin tag in 25 patients (34.2%), hypertransaminasemia in 20 (27.4%), peripheral arthritis in 2 (2.7%), erythema nodosum in 2 (2.7%), vulvitis in 1 (1.4%), uveitis in 1 (1.4%), and pulmonary thromboembolism in 1 (1.4%). Conclusion Perianal diseases and manifestations were present in more than half of Korean pediatric CD patients at diagnosis. Inspection of the anus should be mandatory in Korean children with suspicious CD, as perianal fistulas, abscesses, and anal skin tags may be the first clue to the diagnosis of CD. PMID:28090468

  16. [The clinical features of migraine-associated vertigo].

    PubMed

    Goto, Fumiyuki; Tsutsumi, Tomoko; Ogawa, Kaoru

    2013-08-01

    Migraine-associated vertigo (MAV) is proposed as a new clinical entity on the basis of the assumption that the typical migraine and vertigo or dizziness have a common pathophysiology. Some of the patients with recurrent vertigo syndromes with unknown pathology may have MAV. We performed a retrospective study to clarify the clinical characteristics of MAV in the Japanese population. The following were considered as diagnostic criteria: (1) recurrent vestibular symptoms, (2) migraine headache as defined by the International Headache Society (IHS) criteria, (3) at least one instance of synchronization of a vertiginous attack with a migraine headache, (4) no associated unilateral hearing loss, and (5) absence of other diseases that may have caused vertiginous attacks. Of 552 patients with dizziness or vertigo, 46 (8.3%) were diagnosed as having MAV. A typical feature of this clinical entity is that migraine occurs before the onset of vertigo in women aged 30-40 years. Usually the attacks occur once in a year for 1 to 10 years. An attack lasts for 1-24 h and presents as vertigo and unsteadiness with simultaneous headache. The presence of hearing loss presents an important clinical dilemma. Whether the condition in patients experiencing hearing loss should be defined as MAV or not is still a matter for discussion.

  17. 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.

  18. Survey of Clinical Laboratory Practices for 2015 Middle East Respiratory Syndrome Coronavirus Outbreak in the Republic of Korea

    PubMed Central

    Lee, Mi-Kyung; Kim, Sinyoung; Kim, Mi-Na; Kweon, Oh Joo; Lim, Yong Kwan; Ki, Chang-Seok; Kim, Jae-Seok; Seong, Moon-Woo; Sung, Heungsup; Yong, Dongeun; Lee, Hyukmin; Choi, Jong-Rak

    2016-01-01

    Background It is crucial to understand the current status of clinical laboratory practices for the largest outbreak of Middle East respiratory syndrome coronavirus (MERS-CoV) infections in the Republic of Korea to be well prepared for future emerging infectious diseases. Methods We conducted a survey of 49 clinical laboratories in medical institutions and referral medical laboratories. A short questionnaire to survey clinical laboratory practices relating to MERS-CoV diagnostic testing was sent by email to the directors and clinical pathologists in charge of the clinical laboratories performing MERS-CoV testing. The survey focused on testing volume, reporting of results, resources, and laboratory safety. Results A total of 40 clinical laboratories responded to the survey. A total of 27,009 MERS-CoV real-time reverse transcription PCR (rRT-PCR) tests were performed. Most of the specimens were sputum (73.5%). The median turnaround time (TAT) was 5.29 hr (first and third quartile, 4.11 and 7.48 hr) in 26 medical institutions. The median TAT of more than a half of the laboratories (57.7%) was less than 6 hr. Many laboratories were able to perform tests throughout the whole week. Laboratory biosafety preparedness included class II biosafety cabinets (100%); separated pre-PCR, PCR, and post-PCR rooms (88.6%); negative pressure pretreatment rooms (48.6%); and negative pressure sputum collection rooms (20.0%). Conclusions Clinical laboratories were able to quickly expand their diagnostic capacity in response to the 2015 MERS-CoV outbreak. Our results show that clinical laboratories play an important role in the maintenance and enhancement of laboratory response in preparation for future emerging infections. PMID:26709263

  19. Clinical Practice Guidelines for the Management of Atypical Hemolytic Uremic Syndrome in Korea

    PubMed Central

    2016-01-01

    Atypical hemolytic uremic syndrome (aHUS) is a rare syndrome characterized by micro-angiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The major pathogenesis of aHUS involves dysregulation of the complement system. Eculizumab, which blocks complement C5 activation, has recently been proven as an effective agent. Delayed diagnosis and treatment of aHUS can cause death or end-stage renal disease. Therefore, a diagnosis that differentiates aHUS from other forms of thrombotic microangiopathy is very important for appropriate management. These guidelines aim to offer recommendations for the diagnosis and treatment of patients with aHUS in Korea. The guidelines have largely been adopted from the current guidelines due to the lack of evidence concerning the Korean population. PMID:27550478

  20. Clinical features and treatment of obstructive sleep apnea.

    PubMed Central

    Kimoff, R J; Cosio, M G; McGregor, M

    1991-01-01

    OBJECTIVE: To review the clinical features and treatment of obstructive sleep apnea (OSA). DATA SOURCE AND SELECTION: All articles on OSA published in French and English between 1970 and 1990 and indexed in Index Medicus were reviewed. Studies addressing the epidemiologic features and clinical aspects of OSA were selected, and special emphasis was given to articles reporting the effects of treatment on morbidity and mortality rates. MAIN RESULTS: OSA is characterized by episodes of upper airway obstruction during sleep that result in repetitive hypoxemia and sleep disruption. OSA leads to various neuropsychologic and cardiovascular complications, including daytime hypersomnolence, cognitive impairment, systemic and pulmonary hypertension and cardiac arrhythmias. There is suggestive evidence that the death rate among affected people is increased. The true incidence of OSA is unknown, but estimates have varied from 1% upwards among men. The current treatment with the greatest overall effectiveness and acceptability is nasal continuous positive airway pressure. CONCLUSION: This common, readily treatable disorder is associated with serious complications and therefore must be widely recognized by health professionals. PMID:1998928

  1. The clinical features of the piriformis syndrome: a systematic review

    PubMed Central

    Song, Fujian; Riera, Ricardo; Sambandan, Sidha

    2010-01-01

    Piriformis syndrome, sciatica caused by compression of the sciatic nerve by the piriformis muscle, has been described for over 70 years; yet, it remains controversial. The literature consists mainly of case series and narrative reviews. The objectives of the study were: first, to make the best use of existing evidence to estimate the frequencies of clinical features in patients reported to have PS; second, to identify future research questions. A systematic review was conducted of any study type that reported extractable data relevant to diagnosis. The search included all studies up to 1 March 2008 in four databases: AMED, CINAHL, Embase and Medline. Screening, data extraction and analysis were all performed independently by two reviewers. A total of 55 studies were included: 51 individual and 3 aggregated data studies, and 1 combined study. The most common features found were: buttock pain, external tenderness over the greater sciatic notch, aggravation of the pain through sitting and augmentation of the pain with manoeuvres that increase piriformis muscle tension. Future research could start with comparing the frequencies of these features in sciatica patients with and without disc herniation or spinal stenosis. PMID:20596735

  2. Clinical and metabolic features of urolithiasis and microlithiasis in children.

    PubMed

    Alpay, Harika; Ozen, Ahmet; Gokce, Ibrahim; Biyikli, Nese

    2009-11-01

    We evaluated the clinical, radiological and metabolic features of 162 children with urolithiasis or microlithiasis who had been referred to our pediatric nephrology clinics between 1998 and 2008 with suspected urolithiasis. The medical histories of these children (78 girls, 84 boys), who ranged in age from 2 months to 16 years (mean age 5.59 +/- 0.35 years), were reviewed retrospectively for clinical and metabolic features of urinary tract calculi. Urinary tract infections (UTI) were present in 45.9% of the cases. The most common presenting symptoms were flank pain or restlessness (25.3%) and hematuria (21.6%), followed by UTI (16%), whereas 23.5% of the cases were detected incidentally during evaluation for other medical conditions. Other symptoms at presentation included dysuria, passing stones, penile edema, enuresis, vomiting and anorexia. Urine analysis revealed metabolic abnormalities in 87% of the cases, including hypercalciuria (33.8%), hypocitraturia (33.1%), hyperoxaluria (26.5%), hyperuricosuria (25.4%), hypocitraturia + hypercalciuria (21.1%), hyperphosphaturia (20.8%) and cystinuria (5.7%). Almost 50% of the patients had a positive family history for urolithiasis. The most frequently involved site was in the kidneys (86%). Ureters and bladder were involved in 12 and 2% of the cases, respectively. A family history of urolithiasis, presenting symptoms and underlying metabolic abnormalities were similar for microlithiasis and the patients with larger stones. However, in our study population, microlithiasis was mainly a disease of young infants, with a greater chance for remission and often not associated with structural changes. The presenting symptoms of urolithiasis show a wide spectrum, so that a high index of suspicion is important for early detection. A metabolic abnormality can be identified in 87% of cases of urolithiasis. Detection of microlithiasis may explain a number of symptoms, thus reducing invasive diagnostic procedures and allowing early

  3. Novel clinical features of recurrent human respiratory syncytial virus infections.

    PubMed

    Yui, Ikuko; Fujino, Motoko; Sawada, Akihito; Nakayama, Tetsuo

    2014-09-01

    Children and elderly individuals are often infected easily and repeatedly with human respiratory syncytial virus (HRSV); however, the features of recurrent infection in the same individual are defined poorly. To clarify the clinical significance of repeated HRSV infections in relation to subgroup epidemiology, this study performed prospective and longitudinal analyses in children with lower respiratory tract infections over 20 consecutive epidemics between 1985 and 2005 at a pediatric outpatient clinic in Kawasaki, Japan. HRSV infections were confirmed by 2 types of reverse-transcription PCR. Samples obtained from patients with repeated infections were subjected to sequence analysis and cloning analysis. A total of 1,312 lower respiratory tract infections observed in 1,010 patients were diagnosed as HRSV infections. Repeated HRSV infections occurred in 208 of the 1,010 patients. Analysis of the patients with repeated infections revealed that children were often infected multiple times even within a single short epidemic. Some patients were re-infected with strains having the same or virtually identical N gene sequences. In patients infected more than 4 times, cloning analysis revealed more frequent dual infections with both subgroups (23.8%). The HRSV-A subgroup caused subsequent homologous infections more frequently than did HRSV-B; furthermore, HRSV-A infections provided no protection from a second homologous infection. In contrast, HRSV-B infections offered significant protection against a second homologous infection. Statistical analysis revealed alleviation of symptoms with a reduced rate of dyspnoeic attacks only in the group re-infected with homologous HRSV-A strains. Thus, this study elucidates new clinical features of recurrent HRSV infection.

  4. Cardioembolic Stroke: Clinical Features, Specific Cardiac Disorders and Prognosis

    PubMed Central

    Arboix, Adrià; Alió, Josefina

    2010-01-01

    This article provides the reader with an overview and up-date of clinical features, specific cardiac disorders and prognosis of cardioembolic stroke. Cardioembolic stroke accounts for 14-30% of ischemic strokes and, in general, is a severe condition; patients with cardioembolic infarction are prone to early and long-term stroke recurrence, although recurrences may be preventable by appropriate treatment during the acute phase and strict control at follow-up. Certain clinical features are suggestive of cardioembolic infarction, including sudden onset to maximal deficit, decreased level of consciousness at onset, Wernicke’s aphasia or global aphasia without hemiparesis, a Valsalva manoeuvre at the time of stroke onset, and co-occurrence of cerebral and systemic emboli. Lacunar clinical presentations, a lacunar infarct and especially multiple lacunar infarcts, make cardioembolic origin unlikely. The more common high risk cardioembolic conditions are atrial fibrillation, recent myocardial infarction, mechanical prosthetic valve, dilated myocardiopathy, and mitral rheumatic stenosis. Transthoracic and transesophageal echocardiogram can disclose structural heart diseases. Paroxysmal atrial dysrhyhtmia can be detected by Holter monitoring. In-hospital mortality in cardioembolic stroke (27.3%, in our series) is the highest as compared with other subtypes of cerebral infarction. In our experience, in-hospital mortality in patients with early embolic recurrence (within the first 7 days) was 77%. Patients with alcohol abuse, hypertension, valvular heart disease, nausea and vomiting, and previous cerebral infarction are at increased risk of early recurrent systemic embolization. Secondary prevention with anticoagulants should be started immediately if possible in patients at high risk for recurrent cardioembolic stroke in which contraindications, such as falls, poor compliance, uncontrolled epilepsy or gastrointestinal bleeding are absent. PMID:21804774

  5. Genetic epidemiology, hematological and clinical features of hemoglobinopathies in Iran.

    PubMed

    Rahimi, Zohreh

    2013-01-01

    There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. β-Thalassemia is more prevalent in northern and southern Iran. Among 52 different β-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of α-thalassemia alleles has been detected among Iranians with -α(3.7 kb) as the most prevalent α-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous β-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of β-thalassemia in Iran will be discussed.

  6. The clinical features of the overlap between COPD and asthma

    PubMed Central

    2011-01-01

    Background The coexistence of COPD and asthma is widely recognized but has not been well described. This study characterizes clinical features, spirometry, and chest CT scans of smoking subjects with both COPD and asthma. Methods We performed a cross-sectional study comparing subjects with COPD and asthma to subjects with COPD alone in the COPDGene Study. Results 119 (13%) of 915 subjects with COPD reported a history of physician-diagnosed asthma. These subjects were younger (61.3 vs 64.7 years old, p = 0.0001) with lower lifetime smoking intensity (43.7 vs 55.1 pack years, p = 0.0001). More African-Americans reported a history of asthma (33.6% vs 15.6%, p < 0.0001). Subjects with COPD and asthma demonstrated worse disease-related quality of life, were more likely to have had a severe COPD exacerbation in the past year, and were more likely to experience frequent exacerbations (OR 3.55 [2.19, 5.75], p < 0.0001). Subjects with COPD and asthma demonstrated greater gas-trapping on chest CT. There were no differences in spirometry or CT measurements of emphysema or airway wall thickness. Conclusion Subjects with COPD and asthma represent a relevant clinical population, with worse health-related quality of life. They experience more frequent and severe respiratory exacerbations despite younger age and reduced lifetime smoking history. Trial registration ClinicalTrials.gov: NCT00608764 PMID:21951550

  7. Clinical Features of Severe or Fatal Mycoplasma pneumoniae Pneumonia

    PubMed Central

    Izumikawa, Koichi

    2016-01-01

    Mycoplasma pneumoniae is one of the most common causes of community-acquired pneumonia in children and young adults. The incidence of fulminant M. pneumoniae pneumonia (MPP) is relatively rare despite the high prevalence of M. pneumoniae infection. This literature review highlights the clinical features of fulminant MPP by examining the most recent data in epidemiology, clinical presentation, pathogenesis, and treatment. Fulminant MPP accounts for 0.5–2% of all MPP cases and primarily affects young adults with no underlying disease. Key clinical findings include a cough, fever, and dyspnea along with diffuse abnormal findings in radiological examinations. Levels of inflammatory markers such as white blood cells and C-reactive protein are elevated, as well as levels of lactate dehydrogenase, IL-18, aspartate transaminase, and alanine transaminase. The exact pathogenesis of fulminant MPP remains unclear, but theories include a delayed hypersensitivity reaction to M. pneumoniae and the contribution of delayed antibiotic administration to disease progression. Treatment options involve pairing the appropriate anti-mycoplasma agent with a corticosteroid that will downregulate the hypersensitivity response, and mortality rates are quite low in this treatment group. Further research is necessary to determine the exact pathogenesis of severe and fulminant types of MPP. PMID:27313568

  8. Comparison of the Causes and Clinical Features of Drug Rash With Eosinophilia and Systemic Symptoms and Stevens-Johnson Syndrome

    PubMed Central

    Jeung, Yun-Jin; Lee, Jin-Young; Oh, Mi-Jung; Choi, Dong-Chull

    2010-01-01

    Purpose Drug rash with eosinophilia and systemic symptoms (DRESS) and the Stevens-Johnson syndrome (SJS) are both severe drug reactions. Their pathogenesis and clinical features differ. This study compared the causes and clinical features of SJS and DRESS. Methods We enrolled 31 patients who were diagnosed with DRESS (number=11) and SJS (number=20). We retrospectively compared the clinical and laboratory data of patients with the two disorders. Results In both syndromes, the most common prodromal symptoms were itching, fever, and malaise. The liver was commonly involved in DRESS. The mucosal membrane of the oral cavity and eyes was often affected in SJS. The most common causative agents in both diseases were antibiotics (DRESS 4/11 (37%), SJS 8/20 (40%)), followed by anticonvulsants (DRESS 3/11 (27%), SJS 7/20 (35%)). In addition, dapsone, allopurinol, clopidogrel, sulfasalazine and non-steroidal anti-inflammatory drugs (NSAIDs) were sporadic causes. Conclusions The most common causes of DRESS and SJS were antibiotics, followed by anticonvulsants, NSAIDs and sulfonamides. The increase in the use of antibiotics in Korea might explain this finding. PMID:20358026

  9. Clinical features and management of Hadronyche envenomation in man.

    PubMed

    Miller, M K; Whyte, I M; White, J; Keir, P M

    2000-03-01

    Using case reports and a review of the literature, the clinical features of envenomation by the genus of Australian funnel web spiders known as Hadronyche, are characterised. Five cases are reported here, including the first life-threatening envenomation by Hadronyche species 14 (the Port Macquarie funnel web). Two severe envenomations by Hadronyche cerberea (the Southern Tree funnel web) and one each by Hadronyche formidabilis (the Northern Tree funnel web) and Hadronyche infensa (the Darling Downs funnel web) are also described. The clinical experience of the authors' provided the five cases described in detail one of which has previously been reported in brief. Eight cases of Hadronyche envenomation from the literature (Medline 1966-1998 and Embase 1980-1998) were analysed in order to draw comparisons between this syndrome and the well described envenomation syndrome of Atrax robustus (the Sydney funnel web). Reports of funnel web spider antivenom use to Commonwealth Serum Laboratories (CSL) between 1995 and June 1998 were also examined. The biology of these dangerous spiders, their geographic distribution, venom characteristics and management issues are addressed. It is concluded that bites from at least six Hadronyche species have produced a life-threatening envenomation syndrome clinically indistinguishable from that of Atrax robustus. Atrax robustus derived antivenom is effective although antivenom requirements may be greater than for Atrax envenomation. Antivenom supplies are limited and sufficient stocks to treat a severe envenomation are unlikely to be found in any one institution. Pressure-immobilisation first aid is effective in delaying onset of envenomation, may enhance local inactivation of venom and early removal can result in rapid clinical deterioration.

  10. Clinical features of soft bipolarity in major depressive inpatients.

    PubMed

    Utsumi, Takeshi; Sasaki, Tsukasa; Shimada, Iwao; Mabuchi, Mayuko; Motonaga, Takuro; Ohtani, Toshiyuki; Tochigi, Mamoru; Kato, Nobumasa; Nanko, Shinichiro

    2006-10-01

    Because of the difficulties of ascertaining episode of hypomania by past history of the patients, it is of clinical value to find variables which predict the development of bipolar II disorder in depressive patients. Taking advantage of relatively long hospitalization, the authors tried to elucidate fine clinical features of the soft bipolarity. The subjects were 39 patients with Major Depressive Episode, diagnosed according to the 4th edition of the Diagnostic and Statistical Manual criteria. Among them, 15 patients were diagnosed as bipolar II disorder (BPII), whereas 24 patients were with unipolar depression (UP), using a structured clinical interview to assess the mood spectrum (SCI-MOODS). In addition to ordinary clinical and demographic variables, the authors studied fine symptomatology of depression, premorbid personality, and interpersonal relationship. Continuous variables were analyzed by t-test. Categorical variables were tested by chi2 analysis. In terms of premorbid personality, manic type (Zerssen) was found more frequently in BPII (UP 2/24, BPII 9/15, P < 0.05). Patients with BPII tended to show apparently quick disappearance of depressive symptoms (UP 2/24, BPII 9/15, P = 0.01). The most prominent result was a high prevalence of comorbidity of borderline personality disorder (BPD) among BPII (UP 0/24, BPII 6/15, P = 0.02). As Akiskal indicated that mood lability represents the most powerful predictor of hypomanias, patients with BPII showed quick response in mood to admission. The current subjects with BPII had high frequency of manic type of premorbid personality, indicating the usefulness of this variable for the prediction of hypomanias. Finally, the authors could observe development of BPD during hospitalization exclusively among BPII, to support the possibility of BPD as a state effect of BPII.

  11. Clinical features of acute corpus callosum infarction patients

    PubMed Central

    Yang, Li-Li; Huang, Yi-Ning; Cui, Zhi-Tang

    2014-01-01

    The clinical manifestation of acute corpus callosum (CC) infarction is lack of specificity and complex, so it is easily missed diagnosis and misdiagnosis in the early stage. The present study aims to describe the clinical features of the acute CC infarction. In this study, 25 patients with corpus callosum infarction confirmed by the brain MRI/DWI and the risk factors were summarized. Patients were classified into genu infarction (3 cases), body infarction (4cases), body and genu infarction (4 cases), body and splenium infarction (1 case), splenium infarction (13 cases) according to lesion location. Clinical manifestation and prognosis were analyzed among groups. The results indicated that CC infarction in patients with high-risk group accounted for 72%, moderate-risk group accounted for 20%, low-risk group (8%). The main risk factors are carotid intimal thickening or plaque formation, hypertension, hyperlipidemia, cerebral artery stenosis, and so on. The CC infarction often merged with other parts infarction, and splenium infarction had the highest incidence, the clinical symptoms in the body infarction which can appear typical signs and symptoms, but in other parts infarction which always merged many nerve defect symptoms. The body infarction prognosis is poor; the rest parts of infarction are more favorable prognosis. In conclusion, CC infarction has the highest incidence in the stroke of high-risk group; neck color Doppler and TCD examination can be found as early as possible to explore the pathogenic factors. Prognosis is usually much better by treatment according to the location and risk factors. PMID:25197390

  12. [Features of Clinical Register of Chinese Medicine and Pharmacy Based on ClinicalTrials.gov. (USA)].

    PubMed

    Lu, Peng-fei; Liao, Xing; Xie, Yan-ming; Wang, Zhi-guo

    2015-11-01

    In recent 10 years, clinical trials of Chinese medicine and pharmacy (cMP) at clinicalTrials.gov.(USA) are gradually increasing. In order to analyze features of CMP clinical register, ClinicalTrials.gov register database were comprehensively retrieved in this study. Included clinical trials were input one item after another using EXCEL. A final of 348 CMP clinical trials were included. Results showed that China occupied the first place in CMP clinical register, followed by USA. CMP clinical trials, sponsored mainly by colleges/universities and hospitals, mostly covered interventional studies on evaluating safety/effectiveness of CMP. The proportions of studies, sponsored by mainland China and companies, recruitment trials and multi-center clinical trials in interventional trials were increasing. The proportions of studies sponsored by Hong Kong and Taiwan, research completed trials, unclear research status, phase III clinical trials, and published research trials in interventional trials were decreasing. Published ratios of CMP clinical trials were quite low. There were more missing types and higher proportions in trial register information.

  13. Clinical features of headache associated with mobile phone use: a cross-sectional study in university students

    PubMed Central

    2011-01-01

    Background Headache has been reported to be associated with mobile phone (MP) use in some individuals. The causal relationship between headache associated with MP use (HAMP) and MP use is currently undetermined. Identifying the clinical features of HAMP may help in clarifying the pathophysiology of HAMP and in managing symptoms of individuals with HAMP. The aim of the present study is to describe the clinical features of HAMP. Methods A 14-item questionnaire investigating MP use and headache was administered to 247 medical students at Hallym University, Korea. Individual telephone interviews were subsequently conducted with those participants who reported HAMP more than 10 times during the last 1 year on the clinical features of HAMP. We defined HAMP as a headache attack during MP use or within 1 hour after MP use. Results In total, 214 (86.6%) students completed and returned the questionnaire. Forty (18.9%) students experienced HAMP more than 10 times during the last 1 year in the questionnaire survey. In subsequent telephone interviews, 37 (97.4%) interviewed participants reported that HAMP was triggered by prolonged MP use. HAMP was usually dull or pressing in quality (30 of 38, 79.0%), localised ipsilateral to the side of MP use (32 of 38, 84.2%), and associated with a burning sensation (24 of 38, 63.2%). Conclusion We found that HAMP usually showed stereotyped clinical features including mild intensity, a dull or pressing quality, localisation ipsilateral to the side of MP use, provocation by prolonged MP use and often accompanied by a burning sensation. PMID:21943309

  14. Pachydermoperiostosis, a unique entity with distinctive clinical features.

    PubMed

    Tinoco-Fragoso, Fátima; Méndez-Flores, Silvia; Domínguez-Cherit, Judith

    2015-05-18

    Pachydermoperiostosis, which occurs more frequently in men, is a rare entity with distinctive clinical features and an insidious onset.. We report the case of a 30-year-old man with a one-year history of acropachy, arthralgias, hiperhidrosis, and progressive skin thickening of the face and scalp. The radiological findings were consistent with periostosis and the histopathological analysis from a facial skin biopsy showed a pandermal increase in the thickness and number of collagen bundles. The pathogenesis of PDP is currently unknown, although an increased secretion of prostaglandin E2 (PGE2), which stimulates the overexpression of vascular endothelial growth factor (VEGF), has been suggested as a major factor. No specific treatment exists; however, in most cases, the disease tends to stabilize over time.

  15. Clinical features of cystic fibrosis patients with rare genotypes.

    PubMed Central

    Castaldo, G; Rippa, E; Raia, V; Salvatore, D; Massa, C; de Ritis, G; Salvatore, F

    1996-01-01

    We describe the clinical features of seven cystic fibrosis patients from southern Italy who bear rare genotypes: (1) a patient homozygous for the 2183 AA-->G mutation who was affected by a very early pulmonary form of cystic fibrosis, and five patients who were compound heterozygotes either for the 2183 AA-->G mutation or for the I148T mutation, in both instances with the delta F508 mutation; and (2) a patient homozygous for the early nonsense R553X mutation who showed only a moderately severe form of cystic fibrosis. Our results confirm that environmental or genetic factors unrelated to the CF disease contribute significantly to the development of the phenotype. Images PMID:8825054

  16. [Clinical features of sleep disorders in older adults].

    PubMed

    Chiba, Shigeru; Tamura, Yoshiyuki

    2015-06-01

    There are three major neurophysiological mechanisms underlying the sleep-waking cycle: the sleep system, the waking system, and the system that determines sleep-waking timing. Sleep dlisorders of older adults seem to be caused by functional or organic changes in one or more of the three systems, and are roughly classified into two categories: (i) normal age-related, and (ii) pathological. The former includes decreased amplitude and advanced phase of circadian rhythms (body temperature, melatonin secretion, and sleep-waking), as well as reduced sleep duration, sleep fragmentation, and a decrease of slow-wave sleep in sleep architecture. Pathological sleep disorders include medical and psychiatric diseases (e.g., lifestyle-related diseases, dementia, delirium, and depression) and primary age-related sleep disorders (e.g., REM sleep behavior disorder and periodic limb move- ment disorders). This mini-review delineates the clinical features of sleep disorders in older adults.

  17. Classification, clinical features, and genetics of neural tube defects.

    PubMed

    Salih, Mustafa A; Murshid, Waleed R; Seidahmed, Mohammed Z

    2014-12-01

    Neural tube defects (NTDs) constitute a major health burden (0.5-2/1000 pregnancies worldwide), and remain a preventable cause of still birth, neonatal, and infant death, or significant lifelong handicaps. The malformations result from failure of the neural folds to fuse in the midline, and form the neural tube between the third and the fourth week of embryonic development. This review article discusses their classification, clinical features, and genetics. Most NTDs are sporadic and both genetic, and non-genetic environmental factors are involved in its etiology. Consanguinity was suggested to contribute to the high incidence of NTDs in several countries, including Saudi Arabia. Syndromes, often associated with chromosomal anomalies, account for <10% of all NTDs; but a higher proportion (20%) has been documented in Saudi Arabia. Genetic predisposition constitutes the major underlying risk factor, with a strong implication of genes that regulate folate one-carbon metabolism and planar cell polarity.

  18. [Clinical and microbiological features of Salmonella gastroenteritis in children].

    PubMed

    Saporito, Laura; Colomba, Claudia; Scarlata, Francesco; Li Vecchi, Vatentina; Mammina, Caterina; Titone, Lucina

    2007-03-01

    The aim of our study was to evaluate the role of Salmonella spp in children hospitalised for acute gastroenteritis, and to study clinical and microbiological features of paediatric salmonellosis in our geographical area. In all, 540 patients admitted from March to September 2003 with symptoms of acute enteritis to the Infectious Diseases department of the "G. Di Cristina" hospital in Palermo were enrolled. Stool samples were collected within 48 hours of admission and tested for intestinal pathogens (bacterial, viral, parasites). Salmonella spp was detected in 18.5% of samples. The median age of infected children was 4.5 years. Salmonella enteritidis (49%) and Salmonella typhimurium (37%) were the most commonly identified genotypes. S. enteritidis infection was more frequently characterized by vomiting (65.3%) and dehydration (61.2%). Bloody diarrhoea was more common in S. typhimurium infection (40.5%). All strains were susceptible to ceftriaxone, while 40% of strains were resistant to tetracyclines and 37% to ampicillin.

  19. Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

    PubMed

    Starr, Lois J; Grange, Dorothy K; Delaney, Jeffrey W; Yetman, Anji T; Hammel, James M; Sanmann, Jennifer N; Perry, Deborah A; Schaefer, G Bradley; Olney, Ann Haskins

    2015-12-01

    Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint movement, compact body habitus, and distinctive craniofacial and skeletal features, is caused by heterozygous mutations in SMAD4. Cardiac manifestations reported to date have included patent ductus arteriosus, septal defects, aortic coarctation and pericarditis. We present five previously unreported patients with Myhre syndrome. Despite varied clinical phenotypes all had significant cardiac and/or pulmonary pathology and abnormal wound healing. Included herein is the first report of cardiac transplantation in patients with Myhre syndrome. A progressive and markedly abnormal fibroproliferative response to surgical intervention is a newly delineated complication that occurred in all patients and contributes to our understanding of the natural history of this disorder. We recommend routine cardiopulmonary surveillance for patients with Myhre syndrome. Surgical intervention should be approached with extreme caution and with as little invasion as possible as the propensity to develop fibrosis/scar tissue is dramatic and can cause significant morbidity and mortality.

  20. [Analysis of six cases concerning clinical features of rhinolith].

    PubMed

    Ran, Xiangqun; Zhao, Xingyu; Tong, Hongxia

    2014-11-01

    To analyze six cases concerning clinical features, the treatment process and curative effect of Rhinolith. The six patients had unilateral nasal obstruction, three of them were accompanied with purulent nasal discharge, two had blood with them, one patient had repeated hemorrhage of nasal cavity and two patients had developed headache. By using endoscopic, four irregular stones which are yellow, gray and brown were found in the middle and back end. Because of the severe nasal septum deviation and inferior turbinate polypoid, the stone could not be seen clearly but could be touched by aspirator. In sinus CT examination of 6 cases, it showed incomplete irregular shapes and had high density unilateral nasal cavity in the posterior segment. 4 patients had nasal deviation, 3 patients had ipsilateral sinusitis. 4 patients removed their stone by using endoscopy, 2 patients took the stone away after correction of nasal septum. Pathologic diagnosis: rhinolith. Two patients also had exogenous foreign matters which were considered as pseudo nasal stones.

  1. 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

  2. Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances.

    PubMed

    Ito, Tetsuhide; Igarashi, Hisato; Jensen, Robert T

    2012-12-01

    Pancreatic neuroendocrine tumors (pNETs) comprise with gastrointestinal carcinoids, the main groups of gastrointestinal neuroendocrine tumors (GI-NETs). Although these two groups of GI-NETs share many features including histological aspects; over-/ectopic expression of somatostatin receptors; the ability to ectopically secrete hormones/peptides/amines which can result in distinct functional syndromes; similar approaches used for tumor localization and some aspects of treatment, it is now generally agreed they should be considered separate. They differ in their pathogenesis, hormonal syndromes produced, many aspects of biological behaviour and most important, in their response to certain anti-tumour treatment (chemotherapy, molecular targeted therapies). In this chapter the clinical features of the different types of pNETs will be considered as well as aspects of their diagnosis and medical treatment of the hormone-excess state. Emphasis will be on controversial areas or recent advances. The other aspects of the management of these tumors (surgery, treatment of advanced disease, tumor localization) are not dealt with here, because they are covered in other chapters in this volume.

  3. Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances

    PubMed Central

    Ito, Tetsuhide; Igarashi, Hisato; Jensen, Robert T.

    2013-01-01

    Pancreatic neuroendocrine tumors (pNETs) comprise with gastrointestinal carcinoids, the main groups of gastrointestinal neuroendocrine tumors (GI-NETs). Although these two groups of GI-NETs share many features including histological aspects; over-/ectopic expression of somatostatin receptors; the ability to ectopically secrete hormones/peptides/amines which can result in distinct functional syndromes; similar approaches used for tumor localization and some aspects of treatment, it is now generally agreed they should be considered separate. They differ in their pathogenesis, hormonal syndromes produced, many aspects of biological behavior and most important, in their response to certain anti-tumor treatment (chemotherapy, molecular targeted therapies). In this chapter the clinical features of the different types of pNETs will be considered as well as aspects of their diagnosis and medical treatment of the hormone-excess state. Emphasis will be on controversial areas or recent advances. The other aspects of the management of these tumors (surgery, treatment of advanced disease, tumor localization) are not dealt with here, because they are covered in other chapters in this volume. PMID:23582916

  4. Clinical characteristics of metabolic syndrome in Korea, and its comparison with other Asian countries.

    PubMed

    Hong, A Ram; Lim, Soo

    2015-09-01

    Metabolic syndrome is referred to as syndrome X or insulin resistance syndrome, and is primarily composed of abdominal obesity, diabetes, glucose intolerance, dyslipidemia and high blood pressure. Asians have a lower frequency of obesity than Caucasians, but have an increasing tendency toward metabolic syndrome. Thus, metabolic syndrome poses a major challenge for public health professionals, and is set to become a social and economic problem in Asian populations. Most data on metabolic syndrome are based on studies from Western countries with only limited information derived from Asian populations. Recently, several studies were carried out on a large scale that represents the general Korean population. The prevalence of metabolic syndrome in Korean adults has varied depending on the study designs and different criteria, but shows a distinct increasing trend of metabolic syndrome driven by an increase in abdominal obesity and dyslipidemia. Given the rapid economic progression of Korea over the past 30 years along with a rise of the aged population, it is expected that the prevalence of metabolic syndrome will further increase. Therefore, a proactive strategy at the governmental level for metabolic syndrome prevention should be implemented, reducing abdominal obesity and dyslipidemia. Healthy dietary habits and regular exercise should be emphasized as a part of such a strategy.

  5. [South] Korea.

    PubMed

    1987-04-01

    The Republic of Korea occupies approximately 38,000 square miles in the southern position of a mountaineous peninsula. It shares a land boundary with North Korea. With a population of more than 40 million people, South Korea has 1 of the highest population densities in the world. The language spoken is a Uralic language, closely akin to Japanese, Hungarian, Finnish, and Mongolian, and the traditional religions are Shamanism and Buddhism. Over the course of time, South Korea has been invaded and fought over by its neighbors. The US and the Soviet Union have never been able to reach a unification agreement for North and South Korea. The 3rd Republic era, begun in 1963, saw a time of rapid industrialization and a great deal of economic growth. The 5th Republic began with a new constitution and new elections brought about the election of a president to a 7-year term of office beginning in 1981. Economic growth has been remarkable over the last 25 years despite the fact that North Korea possesses most of the mineral and hydroelectric resources and the existing heavy industrial base built by the Japanese while South Korea has the limited agricultural resources and had, initially, a large unskilled labor pool. Serious industrial growth began in South Korea in the early 1960s and the GNP grew at an annual rate of 10% during the period 1963-78. Current GNP is now, at $2000, well beyond that of its neighbors to the north. The outlook for longterm growth is good; however, the military threat posed by North Korea and the absence of foreign economic assistance has resulted in Korea spending 1/3 of its budget on defense. South Korea is active in international affairs and in the UN. Economic realities have forced Korea to give economics priority in their foreign policy. There has been an on-again, off-again quality to dialogue between the 2 nations. However, the US is committed to maintaining peace on the Korean peninsula. In order to do so, they have supplied manpower and

  6. Clinical presentation and metabolic features of overt and occult urolithiasis.

    PubMed

    Polito, Cesare; Apicella, Andrea; Marte, Antonio; Signoriello, Giuseppe; La Manna, Angela

    2012-01-01

    Although pediatricians are frequently confronted with patients presenting urolithiasis symptoms without obvious stones, the syndrome of occult urolithiasis may be still viewed with some skepticism. We have compared the clinical and metabolic features of 197 children with obvious calculi, 189 with microcalculi (diameter ≤ 3 mm based on renal sonography), and 114 with symptoms of urolithiasis and normal renal sonography findings. Only microcalculi and normal sonography subjects with a urinary abnormality potentially leading to urolithiasis were included in the study. Age at presentation increased significantly (p = 0.0001) in the groups in the order normal sonography to microcalculi to calculi groups. There was no significant difference among the three groups in terms of family history of urolithiasis, gender distribution, and degree of hypercalciuria, hyperuricosuria, hyperoxaluria, or hypocitraturia. The average frequency of pain attacks of patients with recurrent abdominal pain (RAP) ranged from 3.6 to 4.6 days of pain per month among the three groups, which is four to ninefold lower than that reported for children with functional or organic gastrointestinal RAP. The consistency of many clinical and urinary metabolic characteristics indicates a common underlying disorder in overt and occult urolithiasis. The increase of age at presentation from the normal sonography to microcalculi and calculi groups may reflect progressive crystal accretion leading ultimately to overt stone formation.

  7. Clinical features of schizophrenia with enhanced carbonyl stress.

    PubMed

    Miyashita, Mitsuhiro; Arai, Makoto; Kobori, Akiko; Ichikawa, Tomoe; Toriumi, Kazuya; Niizato, Kazuhiro; Oshima, Kenichi; Okazaki, Yuji; Yoshikawa, Takeo; Amano, Naoji; Miyata, Toshio; Itokawa, Masanari

    2014-09-01

    Accumulating evidence suggests that advanced glycation end products, generated as a consequence of facilitated carbonyl stress, are implicated in the development of a variety of diseases. These diseases include neurodegenerative illnesses, such as Alzheimer disease. Pyridoxamine is one of the 3 forms of vitamin B6, and it acts by combating carbonyl stress and inhibiting the formation of AGEs. Depletion of pyridoxamine due to enhanced carbonyl stress eventually leads to a decrease in the other forms of vitamin B6, namely pyridoxal and pyridoxine. We previously reported that higher levels of plasma pentosidine, a well-known biomarker for advanced glycation end products, and decreased serum pyridoxal levels were found in a subpopulation of schizophrenic patients. However, there is as yet no clinical characterization of this subset of schizophrenia. In this study, we found that these patients shared many clinical features with treatment-resistant schizophrenia. These include a higher proportion of inpatients, low educational status, longer durations of hospitalization, and higher doses of antipsychotic medication, compared with patients without carbonyl stress. Interestingly, psychopathological symptoms showed a tendency towards negative association with serum vitamin B6 levels. Our results support the idea that treatment regimes reducing carbonyl stress, such as supplementation of pyridoxamine, could provide novel therapeutic benefits for this subgroup of patients.

  8. Eruptive Facial Postinflammatory Lentigo: Clinical and Dermatoscopic Features.

    PubMed

    Cabrera, Raul; Puig, Susana; Larrondo, Jorge; Castro, Alex; Valenzuela, Karen; Sabatini, Natalia

    2016-11-01

    The face has not been considered a common site of fixed drug eruption, and the authors lack dermatoscopic studies of this condition on the subject. The authors sought to characterize clinical and dermatoscopic features of 8 cases of an eruptive facial postinflammatory lentigo. The authors conducted a retrospective review of 8 cases with similar clinical and dermatoscopic findings seen from 2 medical centers in 2 countries during 2010-2014. A total of 8 patients (2 males and 6 females) with ages that ranged from 34 to 62 years (mean: 48) presented an abrupt onset of a single facial brown-pink macule, generally asymmetrical, with an average size of 1.9 cm. after ingestion of a nonsteroidal antiinflammatory drugs that lasted for several months. Dermatoscopy mainly showed a pseudonetwork or uniform areas of brown pigmentation, brown or blue-gray dots, red dots and/or telangiectatic vessels. In the epidermis, histopathology showed a mild hydropic degeneration and focal melanin hyperpigmentation. Melanin can be found freely in the dermis or laden in macrophages along with a mild perivascular mononuclear infiltrate. The authors describe eruptive facial postinflammatory lentigo as a new variant of a fixed drug eruption on the face.

  9. Clinical features and treatment of endophthalmitis after cataract surgery.

    PubMed

    Zhu, J; Li, Z H

    2015-06-18

    The aim of this study was to investigate the clinical features and treatment results of endophthalmitis after cataract surgery. Five patients with endophthalmitis after phacoemulsification with intraocular lens implantation were enrolled in this study. The pathogenesis, clinical manifestation, and surgical outcomes of 5 patients were compared. Three patients were surgically treated with anterior chamber irrigation and vitrectomy with intravitreal injection. The remaining two patients were medically treated with an intravitreal injection of vancomycin and ceftazidime. Treatment results of the five patients were analyzed. Four patients had positive cultures for bacteria (two cases Staphylococcus epidermidis, one case Enterococcus faecalis, and one case head-like Staphylococcus). The culture of the fifth patient did not have bacterial growth. One year following treatment, four patients had restored visual acuity and a clear vitreous cavity. Retinal detachment and other complications were not observed. The remaining patient had a visual acuity of index at 30 cm one year following treatment. For patients with endophthalmitis after cataract surgery, a biochemical laboratory examination should be promptly performed and should include a bacterial culture and drug sensitivity test. When necessary, vitrectomy combined with an intravitreal injection of vancomycin should be performed to treat the infection early and to help retain useful vision.

  10. Ebola in children: epidemiology, clinical features, diagnosis and outcomes.

    PubMed

    Olupot-Olupot, Peter

    2015-03-01

    Ebola virus disease is caused by a highly contagious and pathogenic threadlike RNA virus of the Filoviridae family. The index human case is usually a zoonosis that launches human-to-human transmission interface with varying levels of sustainability of the epidemic depending on the level of public health preparedness of the affected country and the Ebola virus strain. The disease affects all age groups in the population. Clinical diagnosis is challenging in index cases especially in the early stages of the disease when the presenting features are usually nonspecific and only similar to a flu-like illness. However, in the agonal stages, hemorrhage frequently occurs in a high proportion of cases. The diagnostic gold standard is by detecting the antigen using reverse transcription-polymerase chain reaction. Mortality rates in the past 28 outbreaks since 1976 have ranged from 30% to 100% in different settings among adults, but lower mortality rates have been documented in children. This review aims to describe Ebola virus infection, clinical presentation, diagnosis and outcomes in children.

  11. A unified concept of idiopathic orofacial pain: clinical features.

    PubMed

    Woda, A; Pionchon, P

    1999-01-01

    The main features of atypical facial pain, stomatodynia, atypical odontalgia, and masticatory muscle and temporomandibular joint (TMJ) disorders are compared in this article, which included a search of articles indexed in MEDLINE. The fact that their terminology has been the subject of many debates can be considered a consequence of taxonomic difficulties and uncertainties. Epidemiologic studies indicate marked female predominance for all types of idiopathic orofacial pain. There is also a difference in the age of maximal prevalence between masticatory muscle and TMJ disorders and the other entities. The clinical presentations display several symptoms in common. Pain is oral, perioral, or facial and does not follow a nervous pathway. It has been present for the last 4 to 6 months or has returned periodically in the same form over a period of several months or years. The pain is continuous, has no major paroxysmal character, and is present throughout all or part of the day. It is generally absent during sleep. Clinical, radiographic, or laboratory examination does not reveal any obvious organic cause of pain. There is also a frequent presence of certain psychologic factors, personality traits, or life events. Based on these shared characteristics, a unified concept is proposed. Each of these entities belongs to a group of idiopathic orofacial pain and could be expressed in either the jaws, the buccal mucosa, the teeth, the masticatory muscles, or the TMJ.

  12. Clinical Features and Patient Management of Lujo Hemorrhagic Fever

    PubMed Central

    Sewlall, Nivesh H.; Richards, Guy; Duse, Adriano; Swanepoel, Robert; Paweska, Janusz; Blumberg, Lucille; Dinh, Thu Ha; Bausch, Daniel

    2014-01-01

    Background In 2008 a nosocomial outbreak of five cases of viral hemorrhagic fever due to a novel arenavirus, Lujo virus, occurred in Johannesburg, South Africa. Lujo virus is only the second pathogenic arenavirus, after Lassa virus, to be recognized in Africa and the first in over 40 years. Because of the remote, resource-poor, and often politically unstable regions where Lassa fever and other viral hemorrhagic fevers typically occur, there have been few opportunities to undertake in-depth study of their clinical manifestations, transmission dynamics, pathogenesis, or response to treatment options typically available in industrialized countries. Methods and Findings We describe the clinical features of five cases of Lujo hemorrhagic fever and summarize their clinical management, as well as providing additional epidemiologic detail regarding the 2008 outbreak. Illness typically began with the abrupt onset of fever, malaise, headache, and myalgias followed successively by sore throat, chest pain, gastrointestinal symptoms, rash, minor hemorrhage, subconjunctival injection, and neck and facial swelling over the first week of illness. No major hemorrhage was noted. Neurological signs were sometimes seen in the late stages. Shock and multi-organ system failure, often with evidence of disseminated intravascular coagulopathy, ensued in the second week, with death in four of the five cases. Distinctive treatment components of the one surviving patient included rapid commencement of the antiviral drug ribavirin and administration of HMG-CoA reductase inhibitors (statins), N-acetylcysteine, and recombinant factor VIIa. Conclusions Lujo virus causes a clinical syndrome remarkably similar to Lassa fever. Considering the high case-fatality and significant logistical impediments to controlled treatment efficacy trials for viral hemorrhagic fever, it is both logical and ethical to explore the use of the various compounds used in the treatment of the surviving case reported here

  13. Clinical features of Crohn disease concomitant with ankylosing spondylitis

    PubMed Central

    Liu, Song; Ding, Jie; Wang, Meng; Zhou, Wanqing; Feng, Min; Guan, Wenxian

    2016-01-01

    Abstract Extraintestinal manifestations (EIMs) cause increased morbidity and decreased quality of life in Crohn disease (CD). Ankylosing spondylitis (AS) belongs to EIMs. Very little is known on the clinical features of CD concomitant with AS. This study is to investigate the clinical features of CD patients with AS. We retrospectively collected all CD patients with AS in our hospital, and established a comparison group (CD without AS) with age, sex, and duration of Crohn disease matched. Clinical information was retrieved for comparison. Eight CD + AS patients were identified from 195 CD patients. Sixteen CD patients were randomly selected into comparison group. All CD + AS patients were male, HLA-B27 (+), and rheumatoid factor (−) with an average age of 40.8 ± 4.52 years. Significant correlation between disease activity of CD and AS was revealed (r = 0.857, P = 0.011). Significant correlation between disease activity of CD and functional limitation associated with AS was identified (r = 0.881, P < 0.01). C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and globulin were positively correlated to Crohn disease activity index (CDAI), Bath AS disease activity index, and Bath AS functional index(BASFI) scores (r = 0.73–0.93, P < 0.05). Albumin was negatively associated with CDAI and BASFI (r = −0.73 to −0.91, P < 0.05). The ratio of albumin to globulin (Alb/Glo) was significantly related to all 3 scores (r = −0.81 to −0.91, P < 0.05). Male predominance with a 4.12% concomitant incidence of AS is observed in CD patients. Disease activity of CD correlates with disease activity of AS and functional limitation caused by AS. CRP, ESR, and Alb/Glo may serve as biomarkers for disease activity and functional limitation in CD patients concomitant with AS, although future studies are expected. PMID:27428240

  14. The clinical impact of thalidomide maintenance after autologous stem cell transplantation in patients with newly diagnosed multiple myeloma in real clinical practice of Korea.

    PubMed

    Lee, Ho Sup; Min, Chang-Ki; Lee, Je-Jung; Kim, Kihyun; Kim, Seok Jin; Yoon, Dok Hyun; Eom, Hyeon-Seok; Lee, Hyewon; Lee, Won Sik; Shin, Ho-Jin; Lee, Ji Hyun; Park, Yong; Jo, Jae-Cheol; Do, Young Rok; Mun, Yeung-Chul; Lee, Mark Hong

    2016-05-01

    In real clinical settings (not clinical trials), thalidomide has been accepted as maintenance therapy to patients with multiple myeloma (MM) because of the cost of drugs, the limitations of medical insurance, etc., in our country (South Korea). The purpose of this study was to evaluate the utility of thalidomide maintenance for improving survival in transplantation-eligible patients with MM in the real clinical field. Differences in survival rates were estimated in patients treated with or without thalidomide maintenance. The 3-year progression-free survival rates (PFS) of patients with and without maintenance, respectively, were 55.4 and 37.2 % (p = 0.005). The 3-year overall survival rates (OS) were 88.0 and 84.0 % (p = 0.105). No difference in 3-year OS after relapse or progression (OS2) was observed between the two groups (50.4 and 55.3 %, p = 0.661). The 3-year PFS of patients with and without maintenance therapy who had shown less than CR after ASCT were 68.4 and 23.3 % (p < 0.001). In conclusion, Thalidomide maintenance therapy showed longer PFS in real clinical practice, and long-term use of thalidomide did not interfere with the efficacy of salvage chemotherapy in patients who experienced progression or relapse after ASCT. In addition, thalidomide maintenance might be also useful for patients who have shown less than CR after ASCT.

  15. Epidemiology and clinical features of pediatric psoriasis in tertiary referral psoriasis clinic.

    PubMed

    Kwon, Hyuck Hoon; Na, Sun Jae; Jo, Seoung Jin; Youn, Jai Il

    2012-03-01

    Few epidemiological studies of pediatric patients with moderate to severe psoriasis have been available despite there being no approved systemic therapy for these patients. The aim of the present study was to elucidate clinical features of pediatric psoriasis in a tertiary referral psoriasis clinic. We analyzed the clinical data of 358 patients under 18 years of age referred to our clinic from other private clinics and medical centers. Our data showed a male :female ratio of 1.06:1 and a peak age of onset of 10-11 years. Of the patients, 32.4% had a positive family history. The most prevalent phenotype was plaque type (67.3%) and the mean Psoriasis Area and Severity Index score was 17.2 ± 12.7. The most frequently affected body part was the trunk (69.5%), followed by the legs (65.3%). Exposure to sunlight and summer season improved psoriatic lesions, while stress and winter season aggravated the clinical course. Only 26.0% of patients received systemic therapy or phototherapy during the therapeutic course. Oral acitretin (11.2%) was most frequently used followed by ultraviolet B phototherapy (7.3%). The childhood group (<13 years) showed higher prevalence of guttate and generalized pustular phenotypes and more severe clinical course compared with the adolescent group (13-18 years). In conclusion, our patients showed distinctive features in clinical phenotypes, disease severity and affected body parts compared with previous reports. We also found that clinical application of systemic therapies were limited considering the severe disease state of our patients, demanding a need for more research on treatment of pediatric psoriasis.

  16. Clinical Features and Outcomes of Pasteurella multocida Infection

    PubMed Central

    Giordano, Antonio; Dincman, Toros; Clyburn, Benjamin E.; Steed, Lisa L.; Rockey, Don C.

    2015-01-01

    Abstract Pasteurella multocida, a zoonotic infectious organism, has most often been described in patients after an animal bite. Here, we characterize the clinical features and outcomes of P multocida infection in a large cohort of patients according to the presence or absence of an animal bite. We retrospectively searched MUSC's laboratory information system for all patients with positive P multocida cultures from 2000 to 2014. Extensive data were abstracted, including clinical and outcome data. The Charlson comorbidity index (CCI) was used to assess comorbidities among patients. We identified 44 patients with P multocida infections, including 25 with an animal bite. The average age was 64 years and the majority of patients were women (N = 30). There was no difference in age and sex distribution among those with and without a bite (P = 0.38 and 0.75, respectively). A CCI ≥1 was significantly associated with the absence of a bite (P = 0.006). Patients presenting without a bite were more frequently bacteremic (37% vs 4%, respectively, P = 0.001), and were hospitalized more often (84% vs 44%, respectively, P = 0.012). Of the 8 patients who required intensive care unit (ICU)-based care, 7 were non-bite-related. There were 4 deaths, all occurring in patients not bitten. P multocida infections not associated with an animal bite were often associated with bacteremia, severe comorbidity(ies), immune-incompetent states, the need for ICU management, and were associated with substantial mortality. PMID:26356688

  17. Cerebral proliferative angiopathy: Clinical, angiographic features and literature review

    PubMed Central

    Liu, Peng; Lv, Xianli; Lv, Ming

    2016-01-01

    Purpose Here we present our experience with five cerebral proliferative angiopathy (CPA) patients to better delineate the clinical and angiographic features as well as the treatment selection of this disease. Methods Between October 2008 and October 2012, five consecutive patients diagnosed with CPA were admitted to our department in our hospital. All the five patients received magnetic resonance imaging, digital subtraction angiography, and positron emission computed tomography (PET) to definitively confirm this disease. We also collected 15 previously published instances of CPA to analyze the characteristics of this rare entity. Results As to the five patients, three were female and two were male, between the ages of 4 and 52 years with a mean age of 24.8 ± 20.6 years. The PET results showed that perfusion was decreased over the affected hemispheres in all five patients. As to the treatment, only one patient received encephalo-duro-arterio-synangiosis (EDAS) revascularization surgery. The other four patients were conservatively observed. During the follow-up period (range 3–6 years, mean 4 ± 1.9 years), the patient who underwent EDAS surgery manifested relief of clinical symptoms. In the conservative series, the symptoms in two patients aggravated and suffered permanent neurologic deficits. Conclusion CPA is a rare entity. Natural history has showed this disease is not stable and may progress at a certain time point. The EDAS procedure may be a treatment for CPA-related oligemia since there is currently little data and follow-up available. PMID:26472638

  18. Delta hepatitis: molecular biology and clinical and epidemiological features.

    PubMed Central

    Polish, L B; Gallagher, M; Fields, H A; Hadler, S C

    1993-01-01

    Hepatitis delta virus, discovered in 1977, requires the help of hepatitis B virus to replicate in hepatocytes and is an important cause of acute, fulminant, and chronic liver disease in many regions of the world. Because of the helper function of hepatitis delta virus, infection with it occurs either as a coinfection with hepatitis B or as a superinfection of a carrier of hepatitis B surface antigen. Although the mechanisms of transmission are similar to those of hepatitis B virus, the patterns of transmission of delta virus vary widely around the world. In regions of the world in which hepatitis delta virus infection is not endemic, the disease is confined to groups at high risk of acquiring hepatitis B infection and high-risk hepatitis B carriers. Because of the propensity of this viral infection to cause fulminant as well as chronic liver disease, continued incursion of hepatitis delta virus into areas of the world where persistent hepatitis B infection is endemic will have serious implications. Prevention depends on the widespread use of hepatitis B vaccine. This review focuses on the molecular biology and the clinical and epidemiologic features of this important viral infection. PMID:8358704

  19. Chronic intestinal pseudo-obstruction: clinical features, diagnosis, and therapy.

    PubMed

    De Giorgio, Roberto; Cogliandro, Rosanna F; Barbara, Giovanni; Corinaldesi, Roberto; Stanghellini, Vincenzo

    2011-12-01

    CIPO is the very “tip of the iceberg” of functional gastrointestinal disorders, being a rare and frequently misdiagnosed condition characterized by an overall poor outcome. Diagnosis should be based on clinical features, natural history and radiologic findings. There is no cure for CIPO and management strategies include a wide array of nutritional, pharmacologic, and surgical options which are directed to minimize malnutrition, promote gut motility and reduce complications of stasis (ie, bacterial overgrowth). Pain may become so severe to necessitate major analgesic drugs. Underlying causes of secondary CIPO should be thoroughly investigated and, if detected, treated accordingly. Surgery should be indicated only in a highly selected, well characterized subset of patients, while isolated intestinal or multivisceral transplantation is a rescue therapy only in those patients with intestinal failure unsuitable for or unable to continue with TPN/HPN. Future perspectives in CIPO will be directed toward an accurate genomic/proteomic phenotying of these rare, challenging patients. Unveiling causative mechanisms of neuro-ICC-muscular abnormalities will pave the way for targeted therapeutic options for patients with CIPO.

  20. Clinical features of serum sickness after Australian snake antivenom.

    PubMed

    Ryan, Nicole M; Downes, Michael A; Isbister, Geoffrey K

    2015-12-15

    Serum sickness is a delayed immune reaction in which the immune system responds to a protein in antiserum as a potentially harmful substance and mounts an IgG-mediated antibody response. A 32 year-old female patient had systemic envenoming following a bite by a red-bellied black snake (Pseudechis porphyriacus). She was treated with Tiger snake antivenom and recovered over 24 h and did not develop myotoxicity. She then presented with local pain, itching and swelling, which was partially treated with antihistamines. Eleven days after the bite she presented again with symptoms of worsening serum sickness including rash on the upper legs, joint and muscle pain in arms, ankles and knees, and nausea. The patient was prescribed five days of prednisone 50 mg/day, antihistamine 10 mg/day and analgesia 1000 mg/day and improved over 2 days. She had no further problems on follow up at 4 months. This case highlights that serum sickness can cause significant effects after the treatment of snake envenoming. It develops 5-14 days after antivenom administration and has characteristic clinical and laboratory features. Severe cases of serum sickness can result in morbidity but it appears to respond well to corticosteroid treatment.

  1. Cytogenetics and clinical features of pediatric myelodysplastic syndrome in Japan.

    PubMed

    Moriwaki, Koichi; Manabe, Atsushi; Taketani, Takeshi; Kikuchi, Akira; Nakahata, Tatsutoshi; Hayashi, Yasuhide

    2014-11-01

    We analyzed the cytogenetics and clinical features of pediatric myelodysplastic syndrome (MDS) in Japan. Data on patients (<16 years) diagnosed with MDS from 1990 to 2000 were retrospectively collected from pediatric hematologists in 234 institutions. Chromosome analysis was successfully performed in 255 of 277 MDS patients. The numbers of patients with refractory anemia, refractory anemia with ringed sideroblasts, refractory anemia with excess of blasts (RAEB), refractory anemia with excess of blasts in transformation (RAEBt), chronic myelomonocytic leukemia, and juvenile myelomonocytic leukemia were 67 (24%), 51 (18%), 51 (18%), 20 (7%), and 65 (23%), respectively. The other 23 patients (8%) could not be classified specifically. The distribution of childhood MDS in Japan according to the French-American-British subclassification was similar to that in other countries. However, we identified a higher incidence of therapy-related cases. As for relationship between cytogenetics and prognoses, abnormal karyotypes were related to poorer prognoses than normal karyotype (P < 0.01). However, patients with trisomy 8 had prognoses comparable to those with normal karyotypes. Complex karyotypes were associated with poorer prognoses among RAEB and RAEBt patients. In conclusion, prognosis of pediatric MDS is related to cytogenetics. A more precise diagnosis and classification system is needed for childhood MDS.

  2. Risk factors and clinical features of text message injuries.

    PubMed

    Sharan, Deepak; Ajeesh, P S

    2012-01-01

    Use of mobile phone and sending text message is a very common in today's life. While sending a text message the users need to use their thumb and other palm muscles extensively. The thumb most of the time adducted on the key pad of the mobile and use high force to type the letters. Studies in literature showed that text messaging has an adverse effect on musculoskeletal system of hand. But the extensive study on the type of disorders set in among the users who extensively use mobile phone for texting. This study aims at to evaluate risk factor and clinical feature of the MSD due to hand held devices. Twenty seven subjects participated in this study. Predefined protocols were used to evaluate type of MSD occurred among the subjects. The study revealed that development of tendinitis in extensor pollicis longus, myofascial pain syndrome (70.37%) of adductor pollicis, 1st interossei and extensor digitorum communis . Other associated problems diagnosed were thoracic outlet syndrome (51.85%), fibromyalgia syndrome (25.93%), hypothyroidism (7.41%), wrist tendinitis (14.81%) and De Quervain's syndrome (7.41%). It has been observed that the pathology were tendinitis of extensor pollicis longus, myofascial pain syndrome of thenar muscles and 1st interossei, extensor digitorum communis.

  3. Clinical features and outcome of severe malaria in Gambian children.

    PubMed

    Waller, D; Krishna, S; Crawley, J; Miller, K; Nosten, F; Chapman, D; ter Kuile, F O; Craddock, C; Berry, C; Holloway, P A

    1995-09-01

    The clinical and laboratory features of severe falciparum malaria in 180 Gambian children were studied between 1985 and 1989. Of the 180 children, 118 (66%) presented with seizures, 77 (43%) had cerebral malaria, 35 (20%) had witnessed seizures after admission, 29 (16%) were hypoglycemic, and 27 (15%) died. Respiratory distress was a common harbinger of a fatal outcome. The differences in admission parasite counts in the blood, hematocrit, and opening cerebrospinal pressures for patients who died and survivors were not significant. A multiple logistic regression model identified neurological status (coma, particularly if associated with extensor posturing), stage of parasite development on the peripheral blood film, pulse rate of > 150 or respiratory rate of > 50, hypoglycemia, and hyperlactatemia (plasma lactate level, > 5 mmol/L) as independent indicators of a fatal outcome. Biochemical evidence of hepatic and renal dysfunction was an additional marker of a poor prognosis, but, in contrast to severe malaria in adults, none of these children with severe malaria had acute renal failure.

  4. Congenital Aural Stenosis: Clinical Features and Long-term Outcomes

    PubMed Central

    Li, Chen-long; Chen, Ying; Chen, Yong-zheng; Fu, Yao-yao; Zhang, Tian-yu

    2016-01-01

    The aim of the present study was to comprehensively evaluate the clinical features and long-term outcomes of congenital aural stenosis (CAS). This study presents a retrospective review of patients who underwent meatoplasty for CAS at a tertiary referral hospital from 2008 to 2015. A total of 246 meatoplasty procedures were performed on 232 patients in the present study. We performed multivariate regression analysis. Except in the age < 6 years group, no significant difference was observed among different age groups for cholesteatoma formation, p > 0.05. Except for the stenosis of the external auditory canal (EAC) (>4 mm) group, the other stenosis of EAC groups were not associated with cholesteatoma formation, p > 0.05. Postoperative air-bone gaps (ABG) less than 30 dB occurred in 77.3% (99/128) of the patients, and the Jahrsdoerfer score was associated with postoperative ABG, p < 0.001. The complication rate of CAS was 13.8% (20/144), and males showed a higher risk for postoperative complications (OR, 6.563; 95% CI, 1.268–33.966, p = 0.025). These results indicate that meatoplasty was an effective surgical intervention for CAS, showing a stable hearing outcome with prolonged follow-up. There was no significant difference between the cholesteatoma and no cholesteatoma groups for hearing outcomes, p > 0.05. PMID:27257165

  5. Pigmented lesions of the nail unit: clinical and histopathologic features.

    PubMed

    Ruben, Beth S

    2010-09-01

    Probably the most common reason to perform biopsy of the nail unit is for the evaluation of irregular pigmentation, especially longitudinal melanonychia or pigmented bands. When narrow and solitary, these are usually the product of melanocytic activation/hypermelanosis, lentigines, or melanocytic nevi. Multiple pigmented bands are generally a benign finding, the result of melanocytic activation, as seen in racial pigmentation in darker-skinned patients, for example. In the context of an irregular, broad, heterogeneous or "streaky" band, the chief concern is the exclusion of subungual melanoma. Before assessing the histologic features of any such entities, it is important to understand the normal nail anatomy and melanocytic density of nail unit epithelium, as well as the type of specimen submitted, and whether it is adequate to undertake a proper histologic evaluation. The criteria for diagnosis and prognosis of melanoma of the nail unit are still evolving, and a variety of factors must be weighed in the balance to make a correct diagnosis. The importance of the clinical context cannot be overemphasized. There are also nonmelanocytic conditions to be considered that may produce worrisome nail discoloration, such as subungual hemorrhage, squamous cell carcinoma, and pigmented onychomycosis.

  6. Clinical and histological features of nonalcoholic steatohepatitis in Iranian patients

    PubMed Central

    Bahrami, Hossein; Daryani, Nasser Ebrahimi; Mirmomen, Shahram; Kamangar, Farin; Haghpanah, Babak; Djalili, Mehdi

    2003-01-01

    Background Although several studies have been performed on risk factors and natural course of NASH, it seems that NASH tends to be more than a disease confined to strict boundaries. The objective of this study was to assess the clinical and paraclinical features and risk factors for non-alcoholic steatohepatitis (NASH) patients in an Iranian population Methods Patients with histologically confirmed NASH who had elevated liver aminotransaminases, negative serologic markers of viral or autoimmune hepatitis and no findings in favor of metabolic liver disease were enrolled. A careful history was taken regarding alcohol intake. Results 53 patients consisting of 32 male and 21 female entered the study. The mean age was 37.8 ± 11.3 years. Twenty-six patients (55.3%) were overweight, 15 (31.9%) obese, 40 (75.5%) dyslipidemic, and three patients (5.7%) were diabetic. Liver biopsy showed mild steatosis in 35.7%, moderate steatosis in 53.6%, and severe forms in 10.7%. In 80.2% of patients, portal inflammation was present, and 9.4% had cirrhosis. The amount of increase in liver enzymes bore no relationship with fibrosis, portal inflammation, and degree of steatosis. Conclusions The patients in our study showed a male predominancy and were somewhat younger than other studies. PMID:14561231

  7. Clinical, Epidemiologic, Histopathologic and Molecular Features of an Unexplained Dermopathy

    PubMed Central

    Pearson, Michele L.; Selby, Joseph V.; Katz, Kenneth A.; Cantrell, Virginia; Braden, Christopher R.; Parise, Monica E.; Paddock, Christopher D.; Lewin-Smith, Michael R.; Kalasinsky, Victor F.; Goldstein, Felicia C.; Hightower, Allen W.; Papier, Arthur; Lewis, Brian; Motipara, Sarita; Eberhard, Mark L.

    2012-01-01

    Background Morgellons is a poorly characterized constellation of symptoms, with the primary manifestations involving the skin. We conducted an investigation of this unexplained dermopathy to characterize the clinical and epidemiologic features and explore potential etiologies. Methods A descriptive study was conducted among persons at least 13 years of age and enrolled in Kaiser Permanente Northern California (KPNC) during 2006–2008. A case was defined as the self-reported emergence of fibers or materials from the skin accompanied by skin lesions and/or disturbing skin sensations. We collected detailed epidemiologic data, performed clinical evaluations and geospatial analyses and analyzed materials collected from participants' skin. Results We identified 115 case-patients. The prevalence was 3.65 (95% CI = 2.98, 4.40) cases per 100,000 enrollees. There was no clustering of cases within the 13-county KPNC catchment area (p = .113). Case-patients had a median age of 52 years (range: 17–93) and were primarily female (77%) and Caucasian (77%). Multi-system complaints were common; 70% reported chronic fatigue and 54% rated their overall health as fair or poor with mean Physical Component Scores and Mental Component Scores of 36.63 (SD = 12.9) and 35.45 (SD = 12.89), respectively. Cognitive deficits were detected in 59% of case-patients and 63% had evidence of clinically significant somatic complaints; 50% had drugs detected in hair samples and 78% reported exposure to solvents. Solar elastosis was the most common histopathologic abnormality (51% of biopsies); skin lesions were most consistent with arthropod bites or chronic excoriations. No parasites or mycobacteria were detected. Most materials collected from participants' skin were composed of cellulose, likely of cotton origin. Conclusions This unexplained dermopathy was rare among this population of Northern California residents, but associated with significantly reduced health-related quality of

  8. Clinical Guidelines for the Antimicrobial Treatment of Bone and Joint Infections in Korea

    PubMed Central

    2014-01-01

    There are many various diseases in the bone and joint infections, and we tried to make antimicrobial treatment guidelines for common infectious diseases based on available data for microbiology and clinical trials. This guidelines focused on the treatment of osteomyelitis and septic arthritis, which can be experienced by physicians at diverse clinical settings. This guidelines is not applicable to diabetic foot infections, postoperative infections or post-traumatic infections which need special considerations. The guidelines for those conditions will be separately developed later. Surgical treatment of bone and joint infections, pediatric bone and joint infection, tuberculous bone and joint infection, and prophylactic antibiotic use were not included in this guideline. PMID:25024877

  9. Characterization of mutations in multi- and extensive drug resistance among strains of Mycobacterium tuberculosis clinical isolates in Republic of Korea.

    PubMed

    Jnawali, Hum Nath; Hwang, Sung Chul; Park, Young Kil; Kim, Hyejin; Lee, Yeong Seon; Chung, Gyung Tae; Choe, Kang Hyeon; Ryoo, Sungweon

    2013-06-01

    In order to characterize molecular mechanisms of first- and second-line drug resistance in Mycobacterium tuberculosis and to evaluate the use of molecular markers of resistance, we analyzed 62 multidrug-resistant, 100 extensively drug-resistant, and 30 pan-susceptible isolates from Korean tuberculosis patients. Twelve genome regions associated with drug resistance, including katG, ahpC, and inhA promoter for isoniazid (INH); embB for ethambutol (EMB), rpoB for rifampin (RIF), pncA for pyrazinamide (PZA), gyrA for fluoroquinolones; rpsL, gidB, and rrs for streptomycin; rrs and eis for kanamycin (KM); rrs and tylA for capreomycin (CAP); and rrs for amikacin (AMK) were amplified simultaneously by polymerase chain reaction, and the DNA sequences were determined. We found mutations in 140 of 160 INH-resistant isolates (87.5%), 159 of 162 RIF-resistant isolates (98.15%), 127 of 143 EMB-resistant isolates (88.8%), 108 of 123 ofloxacin-resistant isolates (87.8%), and 107 of 122 PZA-resistant isolates (87.7%); 43 of 51 STM-resistant isolates (84.3%), 15 of 17 KM-resistant isolates (88.2%), and 14 of 15 (AMK and CAP)-resistant isolates (93.3%) had mutations related to specific drug resistance. In addition, the sequence analyses of the study revealed many novel mutations involving these loci. This result suggests that mutations in the rpoB531, katGSer315Thr, and C-15T in the inhA promoter region, and gyrA94, embB306, pncA159, rpsL43, and A1401G in the rrs gene could serve as useful markers for rapid detection of resistance profile in the clinical isolates of M. tuberculosis in Korea, with potentials for the new therapeutic benefits in actual clinical practice.

  10. Clinical features of polyhydramnios associated with fetal anomalies.

    PubMed

    Hara, Kikue; Kikuchi, Akihiko; Miyachi, Keiko; Sunagawa, Sorahiro; Takagi, Kimiyo

    2006-12-01

    The purpose of this study was to examine the clinical features of pregnancy complicated by polyhydramnios associated with fetal anomalies. Sixty-nine patients with a singleton pregnancy complicated by polyhydramnios were retrospectively analyzed. Based on prenatal ultrasonographic findings, 13 cases were considered to have idiopathic polyhydramnios and the remaining 56 cases were associated with fetal anomalies. Between these two groups, no significant difference was found in the gestational weeks when polyhydramnios developed. However, significant difference was noted in the maximum amniotic fluid index (AFI) values during the pregnancy period; 25.4 +/- 2.7 cm in the former, and 30.6 +/- 8.9 cm in the latter (P = 0.0004). In all of 13 cases with idiopathic polyhydramnios, AFI values remained less than 30 cm until delivery. Twenty-two patients (39%) with fetal anomalies required a prenatal treatment such as amnioreduction and tocolysis, whereas only one patient (7.7%) with idiopathic polyhydramnios needed tocolysis therapy (P = 0.03). There was a significant risk of premature delivery with fetal anomalies (35.6 +/- 3.9 weeks' gestation vs. 38.8 +/- 1.5 weeks' gestation, P = 0.004) because of refractory polyhydramnios, rupture of membranes, non-reassuring fetal status, and intrauterine fetal death, and although most infants with idiopathic polyhydramnios were appropriate-for-dates, many of the infants with congenital anomalies were small-for-dates. Significant risk of fetal anomalies should be considered in pregnant women with severe polyhydramnios (AFI > or = 30 cm), an increased trend of amniotic fluid during the pregnancy period, polyhydramnios requiring a prenatal treatment, or fetal growth restriction. On the other hand, based on our experience, a fetus without these conditions seems to have a low risk of congenital anomalies even if polyhydramnios is noted.

  11. Characteristic clinical features associated with aggressive posterior retinopathy of prematurity.

    PubMed

    Ahn, Y J; Hong, K E; Yum, H R; Lee, J H; Kim, K S; Youn, Y A; Park, S H

    2017-02-24

    PurposeTo identify the risk factors for, and clinical features and treatment outcomes of aggressive posterior retinopathy of prematurity (APROP) in Korean infants.MethodsAmong 770 premature infants who underwent screening, 105 infants (198 eyes, 13.63%) received treatment for ROP. A total of 24 infants (48 eyes, 3.12%) developed APROP while 81 infants (150 eyes, 10.52%) developed non-APROP treatment-requiring type. The medical records of ROP-treated infants were reviewed retrospectively. The associated systemic and maternal risk factors were analyzed and anatomical outcomes were compared according to the severity of ROP and treatment modalities.ResultsThe mean gestational age and birth weight at birth in the APROP group were significantly lower than those in the non-APROP group (P=0.019, P<0.001, respectively). Infants who were born small for their GA developed APROP more frequently than non-APROP patients (P<0.001). Chorioamnionitis-positive infants also showed higher incidence rate of APROP (APROP vs non-APROP; P<0.001 and zone I APROP vs posterior zone II APROP; P=0.036, respectively). Infants with APROP required heavier laser treatment with a higher retreatment rate compared to infants with non-APROP. Favorable anatomical outcomes were achieved in 95.3% from treatment-requiring non-APROP group, 85.7% from zone I APROP and 84.6% from posterior zone II APROP group.ConclusionIntrauterine growth restriction and chorioamnionitis were associated with development of APROP. These findings suggest that perinatal maternal environment inhibiting normal retinal vascular growth in utero may contribute to increasing the risk of APROP in premature infants.Eye advance online publication, 24 February 2017; doi:10.1038/eye.2017.18.

  12. Phenotypic, immunologic, and clinical characteristics of patients with nontuberculous mycobacterial lung disease in Korea

    PubMed Central

    2013-01-01

    Background This study aimed to elucidate the phenotypic, immunologic, and clinical characteristics of Korean patients with nontuberculous mycobacterial (NTM) lung disease and compare them with non-NTM bronchiectasis (BE) patients. Methods We prospectively recruited patients between 20 and 80 years of age who had nodular BE type NTM lung disease. Phenotypic, immunologic, and clinical characteristics were evaluated through physical examination, laboratory tests, pulmonary function tests, and radiographic examinations. Questionnaires were also answered. The results of the evaluations were compared with the results of non-NTM BE patients. Results A total of 84 patients with NTM lung disease and 47 non-NTM BE patients participated in the study. Mycobacterium avium complex lung disease and M. abscessus lung disease were most common. Patients with NTM lung disease had lower body mass index than non-NTM BE patients. Scoliosis was observed more frequently in patients with NTM lung disease than in non-NTM BE patients. Conclusions Significant similarities were seen between Korean patients with NTM lung disease and patients from other countries. Differences in phenotypic and clinical characteristics between NTM lung disease and non-NTM BE patients suggest differences in the immunopathogenesis of NTM lung disease and non-NTM BE. Trial registration information ClinicalTrials.gov Registration number; NCT01616745 PMID:24274658

  13. Travel Pattern and Prescription Analysis at a Single Travel Clinic Specialized for Yellow Fever Vaccination in South Korea

    PubMed Central

    Gianella, Sara

    2016-01-01

    Background Travel-related risks for infectious diseases vary depending on travel patterns such as purpose, destination, and duration. In this study, we describe the patterns of travel and prescription of vaccines as well as malaria prophylaxis medication (MPM) at a travel clinic in South Korea to identify the gaps to fill for the optimization of pre-travel consultation. Materials and Methods A cohort of travel clinic visitors in 2011 was constructed and early one-third of the visitors of each month were reviewed. During the study period, 10,009 visited the travel clinic and a retrospective chart review was performed for 3,332 cases for analysis of travel patterns and prescriptions. Results People receiving yellow fever vaccine (YFV) (n = 2,933) were traveling more frequently for business and tourism and less frequently for providing non-medical service or research/education compared to the 399 people who did not receive the YFV. Overall, most people were traveling to Eastern Africa, South America, and Western Africa, while South-Eastern Asia was the most common destination for the non-YFV group. Besides YFV, the typhoid vaccine was the most commonly prescribed (54.2%), while hepatitis A presented the highest coverage (74.7%) considering the natural immunity, prior and current vaccination history. Additionally, 402 (82.5%) individuals received a prescription for MPM among the 487 individuals travelling to areas with high-risk of malaria infection. Age over 55 was independently associated with receiving MPM prescription, while purpose of providing service and travel duration over 10 days were associated with no MPM prescription, despite travelling to high-risk areas. Conclusion Eastern Africa and South America were common travel destinations among the visitors to a travel clinic for YFV, and most of them were travelling for tourism and business. For the individuals who are traveling to areas with high-risk for malaria, more proactive approach might be required in

  14. Clinical and Therapeutic Implications of Aeromonas Bacteremia: 14 Years Nation-Wide Experiences in Korea

    PubMed Central

    Jung, Dong Sik

    2016-01-01

    Background To elucidate the clinical presentation, antimicrobial susceptibility, and prognostic factors of monomicrobial Aeromonas bacteremia in order to determine the most effective optimal therapy. Materials and Methods We reviewed the medical records of Aeromonas bacteremia patients for the period January 2000 to December 2013 in a retrospective multi-center study. Results A total of 336 patient records were reviewed, with 242 having community-acquired bacteremia. The major clinical infections were of the hepatobiliary tract (50.6%) and peritonitis (18.5%), followed by primary bacteremia (17.9%). The infections usually occurred in patients with malignancy (42.3%), hepatic cirrhosis (39.3%), or diabetes mellitus (25.6%). High antimicrobial-resistance rates (15.5% for ceftriaxone, 15.5% for piperacillin/tazobactam) were noted. However, resistance to carbapenem and amikacin was only 9.8% and 3.0%, respectively. Aeromonas hydrophila (58.9%) was the most common pathogen, followed by Aeromonas caviae (30.4%). The severity of A. caviae bacteremia cases were less than that of A. hydrophila or Aeromonas veronii bacteremia (P <0.05). A. hydrophila showed higher antimicrobial resistance than did other Aeromonas species (P <0.05). Patients with hospital-acquired bacteremia were more likely to have severely abnormal laboratory findings and relatively high antimicrobial-resistance rates. Mortality was associated with metastatic cancer, shock, delayed use of appropriate antimicrobial agents, increased prothrombin time, and increased creatinine level (P <0.05). Conclusions Aeromonas species should be considered one of the causative agents of bacteremia in patients with intra-abdominal infections or malignancies. Although ceftriaxone-resistant Aeromonas bacteremia was not statistically related to mortality in this study, it was associated with severe clinical manifestations and laboratory abnormalities. Appropriate antibiotics, including carbapenem, should be administered early

  15. Parasitic Infections Based on 320 Clinical Samples Submitted to Hanyang University, Korea (2004-2011)

    PubMed Central

    Choi, Sung-Chul; Lee, Soo-Young; Song, Hyun-Ouk; Ryu, Jae-Sook

    2014-01-01

    We analyzed 320 clinical samples of parasitic infections submitted to the Department of Environmental Biology and Medical Parasitology, Hanyang University from January 2004 to June 2011. They consisted of 211 nematode infections, 64 trematode or cestode infections, 32 protozoan infections, and 13 infections with arthropods. The nematode infections included 67 cases of trichuriasis, 62 of anisakiasis (Anisakis sp. and Pseudoterranova decipiens), 40 of enterobiasis, and 24 of ascariasis, as well as other infections including strongyloidiasis, thelaziasis, loiasis, and hookworm infecions. Among the cestode or trematode infections, we observed 27 cases of diphyllobothriasis, 14 of sparganosis, 9 of clonorchiasis, and 5 of paragonimiasis together with a few cases of taeniasis saginata, cysticercosis cellulosae, hymenolepiasis, and echinostomiasis. The protozoan infections included 14 cases of malaria, 4 of cryptosporidiosis, and 3 of trichomoniasis, in addition to infections with Entamoeba histolytica, Entamoeba dispar, Entamoeba coli, Endolimax nana, Giardia lamblia, and Toxoplasma gondii. Among the arthropods, we detected 6 cases of Ixodes sp., 5 of Phthirus pubis, 1 of Sarcoptes scabiei, and 1 of fly larva. The results revealed that trichuriasis, anisakiasis, enterobiasis, and diphyllobothriasis were the most frequently found parasitosis among the clinical samples. PMID:24850969

  16. Coronary artery spasm--clinical features, diagnosis, pathogenesis, and treatment.

    PubMed

    Yasue, Hirofumi; Nakagawa, Hitoshi; Itoh, Teruhiko; Harada, Eisaku; Mizuno, Yuji

    2008-02-01

    Coronary (artery) spasm plays an important role in the pathogenesis of ischemic heart disease, including stable angina, unstable angina, myocardial infarction, and sudden death. The prevalence of coronary spasm differs among populations, is higher in Japan and Korea than in the Western countries probably due to genetic as well as environmental factors. Coronary spasm occurs most often from midnight to early morning and is usually not induced by exercise in the daytime. The attacks of coronary spasm are associated with either ST segment elevation or depression, or negative U wave on ECG. Patients with multi-vessel coronary spasm may suffer from lethal arrhythmia, including advanced AV block, ventricular tachycardia or fibrillation, or even sudden death, and they are often resistant to conventional medical therapy including Ca-channel blockers (CCBs). Endothelial nitric oxide (NO) activity is reduced and markers of oxidative stress are elevated in patients with coronary spasm. Thrombogenesis is enhanced and plasma levels of hsCRP and P-selection are elevated in patients with coronary spasm. Thus, patients with coronary spasm have endothelial dysfunction and are suffering from a low-grade chronic inflammation. Polymorphisms of endothelial NO synthase, smoking, and low-grade inflammation are the most important risk factors for coronary spasm. Coronary spasm is a hyper-contraction of coronary smooth muscle triggered by an increase of intracellular Ca2+ in the presence of an increased Ca2+ sensitivity. It has been shown that RhoA/ROCK pathway is involved in Ca2+ sensitivity and that the reduced endothelial NO activity results in increased Ca2+ sensitivity through enhanced RhoA/ROCK pathway. Accordingly, it is possible that in addition to CCBs, RhoA/ROCK pathway blockers may prove to be useful for the treatment of coronary spasm.

  17. Current Status and Clinical Studies of Oriental Herbs in Sexual Medicine in Korea

    PubMed Central

    Shin, Yu Seob; Zhao, Chen; Zhang, Li Tao

    2015-01-01

    Erectile dysfunction (ED) is one of the most common diseases among aging men. Although previous studies have shown that type 5 phosphodiesterase inhibitors (PDE5-Is) are very effective for the treatment of ED, many researchers are currently attempting to identify therapeutic agents from natural sources with comparable or better effects than PDE5-Is. Herbal medicine is thought to be advantageous because it is natural; moreover, it not only treats isolated symptoms, but also maintains general well-being. Furthermore, since newly created chemical compound libraries have limited structural diversity with regard to pharmaceutical agents, more attention has recently been paid to the ability of oriental herbs to enhance physical health, including sexual function. Herein, we review the current status of Korean preclinical or clinical studies of the application of oriental herbs to sexual medicine. PMID:26331122

  18. Military medical advances resulting from the conflict in Korea, Part II: Historic clinical accomplishments.

    PubMed

    Baker, Michael S

    2012-04-01

    Throughout the recorded history of civilization, there has been armed conflict. Warfare has been associated with advances in care for the wounded. Many of these advances when shown effective on the battlefield become incorporated into civilian health care. It is a laboratory where there is unfortunately much clinical material and presents opportunity for the creative, curious, and innovative. This article reviews the medical advances that resulted from the Korean War. There were notable advances in neurosurgery, vascular surgery, and plastic surgery. Tools from prior wars were rediscovered, dusted off, and used to stop combat losses from psychiatric trauma. A treatment was developed for cleft lip by a plastic surgeon, thus giving hope to young lives. War is a disruptive, destructive, and harrowing experience--but can lead to improvements in care for the wounded and these developments can improve the lives of people everywhere.

  19. A Case of Primary Biliary Cirrhosis Mimicking Acute Hepatitis B in the Clinic, Republic of Korea

    PubMed Central

    Kwon, Woo Hyuk; Park, Hong Min; Park, Jeong Jun; Lee, Sung Hoon

    2017-01-01

    Primary biliary cirrhosis (PBC) is a slowly progressive cholestatic autoimmune liver disease characterized by progressive bile duct injury. The most common symptoms of this disease include fatigue and pruritus. The diagnosis of PBC is based on cholestatic biochemical liver tests, presence of antimitochondrial antibodies, and characteristic histological biopsy findings. We report a case of a patient with PBS, who was initially suspected to be in the window period of hepatitis B by a private doctor in a local clinic based on the detection of isolated immunoglobulin M antibody against hepatitis B core antigen. The presence of this antibody is the most useful index in diagnosing acute hepatitis B (+) by immunoserological test. The final diagnosis of the patient in Good Gang-An Hospital was PBC through additional tests. The patient is receiving outpatient treatment. PMID:28197333

  20. Clinical outcomes of robotic mitral valve repair: a single-center experience in Korea

    PubMed Central

    Kim, Ho Jin; Kim, Joon Bum; Jung, Sung-Ho

    2017-01-01

    Background Since the inception of robotic mitral valve repair (MV) in 2007 at our institution, it has become an acceptable surgical option with proven efficacy and safety. The objective of this study is to analyze the early and long-term clinical outcomes of patients undergoing robotic MV repair. Methods A total of 310 patients (aged 48.4±13.7 years, 201 males) undergoing robotic MV repair using the da Vinci system (Intuitive Surgical, Inc., Sunnyvale, CA) between August 2007 and December 2015 in our institution were evaluated. The preoperative demographics, operative profiles and postoperative outcomes including follow-up echocardiographic results were analyzed. Results Successful MV repair was achieved in 98.4% (n=305) of patients, with no significant residual mitral regurgitation (MR) postoperatively. There were no early postoperative deaths. Early postoperative complications included: stroke (n=3, 1.0%), new onset dialysis (n=1, 0.3%) and reoperation (n=3, 1.0%). During a median follow-up of 55.7 months (inter-quartile range 30.3 to 81.3 months), six (1.9%) patients died, while four patients underwent late reoperation for mitral regurgitation (n=2) or infective endocarditis (n=2). Major event-free survival at five years was 87.6%. Late echocardiographic profiles (>6 months) were obtained in 295 (95.2%) patients. During follow-up, 32 (10.8%) patients developed significant mitral regurgitation (MR > grade 2), while freedom from significant MR at five years was 86.5%. Conclusions Robotic MV repair is a safe procedure with acceptable postoperative results, including low early postoperative morbidity and mortality and acceptable long-term repair durability. PMID:28203536

  1. Improving clinical practice using clinical decision support systems: a systematic review of trials to identify features critical to success

    PubMed Central

    Kawamoto, Kensaku; Houlihan, Caitlin A; Balas, E Andrew; Lobach, David F

    2005-01-01

    Objective To identify features of clinical decision support systems critical for improving clinical practice. Design Systematic review of randomised controlled trials. Data sources Literature searches via Medline, CINAHL, and the Cochrane Controlled Trials Register up to 2003; and searches of reference lists of included studies and relevant reviews. Study selection Studies had to evaluate the ability of decision support systems to improve clinical practice. Data extraction Studies were assessed for statistically and clinically significant improvement in clinical practice and for the presence of 15 decision support system features whose importance had been repeatedly suggested in the literature. Results Seventy studies were included. Decision support systems significantly improved clinical practice in 68% of trials. Univariate analyses revealed that, for five of the system features, interventions possessing the feature were significantly more likely to improve clinical practice than interventions lacking the feature. Multiple logistic regression analysis identified four features as independent predictors of improved clinical practice: automatic provision of decision support as part of clinician workflow (P < 0.00001), provision of recommendations rather than just assessments (P = 0.0187), provision of decision support at the time and location of decision making (P = 0.0263), and computer based decision support (P = 0.0294). Of 32 systems possessing all four features, 30 (94%) significantly improved clinical practice. Furthermore, direct experimental justification was found for providing periodic performance feedback, sharing recommendations with patients, and requesting documentation of reasons for not following recommendations. Conclusions Several features were closely correlated with decision support systems' ability to improve patient care significantly. Clinicians and other stakeholders should implement clinical decision support systems that incorporate these

  2. Clinical features, histology, and histogenesis of combined hepatocellular-cholangiocarcinoma

    PubMed Central

    Gera, Shweta; Ettel, Mark; Acosta-Gonzalez, Gabriel; Xu, Ruliang

    2017-01-01

    Combined hepatocellular-cholangiocarcinoma (CHC) is a rare tumor with poor prognosis, with incidence ranging from 1.0%-4.7% of all primary hepatic tumors. This entity will be soon renamed as hepato-cholangiocarcinoma. The known risk factors for hepatocellular carcinoma (HCC) have been implicated for CHC including viral hepatitis and cirrhosis. It is difficult to diagnose this tumor pre-operatively. The predominant histologic component within the tumor largely determines the predominant radiographic features making it a difficult distinction. Heterogeneous and overlapping imaging features of HCC and cholangiocarcinoma should raise the suspicion for CHC and multiple core biopsies (from different areas of tumor) are recommended before administering treatment. Serum tumor markers CA19-9 and alpha-fetoprotein can aid in the diagnosis, but it remains a challenging diagnosis prior to resection. There is sufficient data to support bipotent hepatic progenitor cells as the cell of origin for CHC. The current World Health Organization classification categorizes two main types of CHC based on histo-morphological features: Classical type and CHC with stem cell features. Liver transplant is one of the available treatment modalities with other management options including transarterial chemoembolization, radiofrequency ablation, and percutaneous ethanol injection. We present a review paper on CHC highlighting the risk factors, origin, histological classification and therapeutic modalities. PMID:28293379

  3. Early-Onset Psychoses: Comparison of Clinical Features and Adult Outcome in 3 Diagnostic Groups

    ERIC Educational Resources Information Center

    Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo

    2009-01-01

    A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a…

  4. Epidemiological Features of Bronchiolitis in the Pediatric Clinic of Clinical center of Sarajevo University

    PubMed Central

    Bakalovic, Ganimeta; Dzinovic, Amra; Baljic, Rusmir; Dizdar, Selma; Selimovic, Amina

    2015-01-01

    Objective: To present the epidemiological features of bronchiolitis in a one-year period in patients of Pediatric Clinic, Clinical Centre of Sarajevo University. Introduction: Bronchiolitis is the most common respiratory infection of early infant age. The disease is one the most common reason for hospitalization of children under the age of six months. The disease is characterized by occurrences in the winter season November–March. For daily diagnosing of severe forms of bronchiolitis as a clinical syndrome, often sufficient are the knowledge of the epidemiological data, age of the patient, clinical examination and insight into the risk factors. Patients and methods: The history of the disease in 155 infant patients, who were clinically treated because of bronchiolitis in the period from February 2013 to February 2014 in the Department of Pediatric Pulmonary Clinic in Sarajevo was retrospectively analyzed. Results: The majority of patients were aged less than 6 months (87.7%). The monthly distribution of bronchiolitis had a peak in January and February. Almost 50% of patients had a risk factors for the development of severe forms of bronchiolitis out of which the most common were artificial diet (53.5%), low birth weight below 2500g (17%), prematurity (16.1%), congenital heart anomalies (14.2%), bronchopulmonary dysplasia (1.9%). 46,5% of patients were on natural nutrition. 46 patients (29.6%) were serologically or by respi-strip test in nasopharyngeal lavage positive on respiratory syncytial virus (RSV). There were no patients who required mechanical ventilation. Conclusion: During the one-year period, bronchiolitis was the most common diagnose in the early infantile period up to 6 months, with a peak incidence in January and February. Risk factors such as prematurity, low birth weight, congenital heart anomalies and bronchopulmonary dysplasia have been less present in the studied period compared to the period before the introduction of RSV chemoprophylaxis. The

  5. 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…

  6. Pine nut allergy: clinical features and major allergens characterization

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Pine nuts, the seeds of pine trees, are widely used for human consumption in Europe, America, and Asia. The aims of this study were to evaluate IgE-mediated hypersensitivity to pine nut in a large number of patients with details of clinical reactions, and to characterize major pine nut allergens. Th...

  7. Clinical features of multiple primary carcinomas of the oral cavity

    PubMed Central

    Li, Ya-Dong; Ma, Xin; Han, Yao-Lun; Peng, Li-Wei

    2017-01-01

    The present study aimed to elucidate the clinical characteristics of multiple primary carcinomas of the oral cavity. The clinical records of 1,024 patients who were treated during follow-up for oral cancer at the Department of Stomatology, Henan Provincial People's Hospital, between March 2013 and December 2014 were retrospectively reviewed. The clinical characteristics of 961 patients who developed single primary oral squamous cell carcinoma (SCC) during follow-up and 54 patients who subsequently developed multiple primary carcinomas in the oral cavity were compared. Multiple primary carcinomas exhibited a female predilection, were most prevalent in the gingiva, and tended to show earlier tumor and nodal stages, as compared with single primary carcinomas. The local recurrence rate was higher for multiple primary carcinomas, as compared with single primary carcinomas, and was demonstrated to increase with the number of multiple primary occurrences. The cumulative incidence rates for metachronous second primary carcinomas following the onset of the first carcinoma at 10 years was 8.0%. Recurrence of multiple primary carcinomas did not decrease the survival rates of the patients assessed in the present study. Furthermore, differences were detected in the clinical characteristics between patients with single oral SCC and those with multiple primary oral carcinomas. The results of the present study indicated that early diagnosis and treatment and close long-term follow-up are required for patients with multiple primary oral carcinomas.

  8. 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

  9. Clinical and laboratory features of viral hepatitis A in children.

    PubMed

    Blechová, Zuzana; Trojánek, Milan; Kynčl, Jan; Cástková, Jitka; John, Jerry; Malý, Marek; Herrmannová, Kristýna; Marešová, Vilma

    2013-02-01

    Recent outbreaks of viral hepatitis A in non-endemic European countries and the potential outbreak risk in susceptible populations has led us to evaluate the clinical characteristics of children hospitalised with hepatitis A. Retrospective study included 118 children (68 boys and 50 girls) with the mean age of 8.5 years hospitalised at Hospital Na Bulovce in Prague from June 2008 to June 2009. The clinical course was symptomatic icteric in 57 (48.3 %) children, symptomatic anicteric in 23 (19.5 %), subclinical in 22 (18.6 %) and asymptomatic inapparent in 16 (13.6 %). The relapse of the disease occurred in three patients. There were no cases of fulminant hepatitis. The most frequent symptoms included jaundice (57 cases), abdominal pain/discomfort (38), vomiting (38), dark urine (37), subfebrility (29) and fever (25). Hepatic injury markers were substantially elevated in icteric patients, but moderate elevations were identified in anicteric and subclinical cases as well. Lower white blood cell and lymphocyte counts were independently associated with symptomatic and more severe clinical course. Active immunisation was provided to 22 patients, and as a post-exposure prophylaxis to 19 of them. The clinical course and laboratory parameters in vaccinated children were not significantly different from non-vaccinated children. The clinical course of hepatitis A was largely self-limiting and benign. Asymptomatic infections are frequent, representing risk for disease spread; however, they are associated with elevations of hepatic injury markers. The inclusion of significant proportion of asymptomatic cases that were identified and investigated only because of active epidemiological surveillance in the outbreak focus represents the particular asset of this study.

  10. Clinical features and surgical outcomes of primary canaliculitis with concretions

    PubMed Central

    Xiang, Shengjin; Lin, Bin; Pan, Qintuo; Zheng, Meiqin; Qin, Xiaoyi; Wang, Youpei; Zhang, Zongduan

    2017-01-01

    Abstract The purpose of our study is to analyze the clinical, ultrasonic, microbiologic, and histopathologic characteristics, management, and outcomes in a series of primary canaliculitis with concretions patients who underwent canaliculotomy with curettage. Thirty-six patients were reviewed for age, sex, location and laterality, duration of symptoms, clinical symptoms, ultrasonic signs, result of microbiologic culture and histopathologic examination, treatment, and outcomes. Main outcomes were the clinical, ultrasonic, and microbiological characteristics of the canalicular concretions; the histopathologic profiles; and the treatment effect. Thirty-six patients were identified with concretions in all 37 cases of the patients with canaliculitis. There were 30 (83.3%) female patients with a mean age of 54.2 years. Twenty-eight (77.8%) patients were misdiagnosed or delayed diagnosed, and the mean duration was 17.1 months. The common most clinical presentations were discharge (100%), epiphora (66.7%), erythema (52.8%), and swelling (47.2%), and concretions were found in 31 of 37 patients by typical clinical manifestations and in 5 of 6 patients by ultrasonic. Actinomyces was found in 8 of 13 histopathologic specimens, and microbiological cultures were positive in 13 of 24 patients. All patients underwent canaliculotomy with curettage to completely remove all concretions and contents; 35 of 36 patients’ symptoms improved and 1 recurred after treatment at a median of 21.7 months follow-up according to the telephonic questionnaires. Canalicular concretions play an important role in primary canaliculitis. Canaliculotomy with curettage is a standard therapy with canalicular concretions, and the surgical removal of all possible concretions is essential for cure. PMID:28248874

  11. Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

    PubMed

    Pilotto, Andrea; Padovani, Alessandro; Borroni, Barbara

    2013-01-01

    The discovery of monogenic forms of Alzheimer's Disease (AD) associated with mutations within PSEN1, PSEN2, and APP genes is giving a big contribution in the understanding of the underpinning mechanisms of this complex disorder. Compared with sporadic form, the phenotype associated with monogenic cases is somewhat broader including behavioural disturbances, epilepsy, myoclonus, and focal presentations. Structural and functional imaging show typical early changes also in presymptomatic monogenic carriers. Amyloid imaging and CSF tau/A β ratio may be useful in the differential diagnosis with other neurodegenerative dementias, especially, in early onset cases. However, to date any specific biomarkers of different monogenic cases have been identified. Thus, in clinical practice, the early identification is often difficult, but the copresence of different elements could help in recognition. This review will focus on the clinical and instrumental markers useful for the very early identification of AD monogenic cases, pivotal in the development, and evaluation of disease-modifying therapy.

  12. Gluteal Tendinopathy: Integrating Pathomechanics and Clinical Features in Its Management.

    PubMed

    Grimaldi, Alison; Fearon, Angela

    2015-11-01

    Synopsis Gluteal tendinopathy is now believed to be the primary local source of lateral hip pain, or greater trochanteric pain syndrome, previously referred to as trochanteric bursitis. This condition is prevalent, particularly among postmenopausal women, and has a considerable negative influence on quality of life. Improved prognosis and outcomes in the future for those with gluteal tendinopathy will be underpinned by advances in diagnostic testing, a clearer understanding of risk factors and comorbidities, and evidence-based management programs. High-quality studies that meet these requirements are still lacking. This clinical commentary provides direction to assist the clinician with assessment and management of the patient with gluteal tendinopathy, based on currently limited available evidence on this condition and the wider tendon literature and on the combined clinical experience of the authors. J Orthop Sports Phys Ther 2015;45(11):910-922. Epub 17 Sep 2015. doi:10.2519/jospt.2015.5829.

  13. LEPROSY NEPHROPATHY: A REVIEW OF CLINICAL AND HISTOPATHOLOGICAL FEATURES

    PubMed Central

    da Silva, Geraldo Bezerra; Daher, Elizabeth De Francesco; Pires, Roberto da Justa; Pereira, Eanes Delgado Barros; Meneses, Gdayllon Cavalcante; Araújo, Sônia Maria Holanda Almeida; Barros, Elvino José Guardão

    2015-01-01

    Leprosy is a chronic disease caused by Mycobacterium leprae, highly incapacitating, and with systemic involvement in some cases. Renal involvement has been reported in all forms of the disease, and it is more frequent in multibacillary forms. The clinical presentation is variable and is determined by the host immunologic system reaction to the bacilli. During the course of the disease there are the so called reactional states, in which the immune system reacts against the bacilli, exacerbating the clinical manifestations. Different renal lesions have been described in leprosy, including acute and chronic glomerulonephritis, interstitial nephritis, secondary amyloidosis and pyelonephritis. The exact mechanism that leads to glomerulonephritis in leprosy is not completely understood. Leprosy treatment includes rifampicin, dapsone and clofazimine. Prednisone and non-steroidal anti-inflammatory drugs may be used to control acute immunological episodes. PMID:25651321

  14. Genetic and clinical features of primary torsion dystonia

    PubMed Central

    Ozelius, Laurie J.; Bressman, Susan B.

    2011-01-01

    Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two of the genes have been identified. In this review we will described the phenotypes associated with these loci and discuss the responsible gene. PMID:21168499

  15. Lichenoid sarcoidosis: a case with clinical and histopathological lichenoid features.

    PubMed

    Garrido-Ruiz, Maria C; Enguita-Valls, Ana B; de Arriba, Marta González; Vanaclocha, Francisco; Peralto, Jose Luis Rodriguez

    2008-06-01

    Sarcoidosis is a chronic multisystemic granulomatous disease of unknown etiology, characterized by the formation of noncaseating granulomas in the involved organs. Cutaneous involvement is about 25% with different clinical expressions, the lichenoid pattern being one of the rarest types of cutaneous sarcoidosis. Lichenoid sarcoidosis clinically manifests with multiple scale papules involving extensive skin areas, especially the trunk, limbs, and face mimicking a lichen planus. Although diverse histologic patterns have been previously related, a lichenoid granulomatous infiltrate involving the dermo-epidermal junction has never been reported in lichenoid sarcoidosis. We report a case of a 43-year-old woman presenting with skin-colored pruritic papules, slightly scaling in trunk, extremities, and ears. These symptoms condition continued to expand and worsen for several years. The patient was otherwise in good health with no lymphadenopathies. Histopathologic examination of a skin biopsy showed an upper dermal granulomatous infiltrate of epithelioid cells, without necrosis, distributed in a lichenoid pattern with many cytoid bodies. We consider this may be the first case presenting a characteristic microscopic granulomatous lichen-like pattern in the setting of a clinically lichenoid type of sarcoidosis.

  16. Geographic atrophy: clinical features and potential therapeutic approaches.

    PubMed

    Holz, Frank G; Strauss, Erich C; Schmitz-Valckenberg, Steffen; van Lookeren Campagne, Menno

    2014-05-01

    In contrast to wet age-related macular degeneration (AMD), where loss of vision is typically acute and treatment leads to a relatively rapid reduction in retinal fluid and subsequent improvements in visual acuity (VA), disease progression and vision loss in geographic atrophy (GA) owing to AMD are gradual processes. Although GA can result in significant visual function deficits in reading, night vision, and dark adaptation, and produce dense, irreversible scotomas in the visual field, the initial decline in VA may be relatively minor if the fovea is spared. Because best-corrected VA does not correlate well with GA lesions or progression, alternative clinical endpoints are being sought. These include reduction in drusen burden, slowing the enlargement rate of GA lesion area, and slowing or eliminating the progression of intermediate to advanced AMD. Among these considerations, slowing the expansion of the GA lesion area seems to be a clinically suitable primary efficacy endpoint. Because GA lesion growth is characterized by loss of photoreceptors, it is considered a surrogate endpoint for vision loss. Detection of GA can be achieved with a number of different imaging techniques, including color fundus photography, fluorescein angiography, fundus autofluorescence (FAF), near-infrared reflectance, and spectral-domain optical coherence tomography. Previous studies have identified predictive characteristics for progression rates including abnormal patterns of FAF in the perilesional retina. Although there is currently no approved or effective treatment to prevent the onset and progression of GA, potential therapies are being evaluated in clinical studies.

  17. Spontaneous Primary Intraventricular Hemorrhage: Clinical Features and Early Outcome

    PubMed Central

    Arboix, Adrià; García-Eroles, Luis; Vicens, Adela; Oliveres, Montserrat; Massons, Joan

    2012-01-01

    Purpose. Primary hemorrhage in the ventricular system without a recognizable parenchymal component is very rare. This single-center retrospective study aimed to further characterize the clinical characteristics and early outcome of this stroke subtype. Methods. All patients with primary intraventricular hemorrhage included in a prospective hospital-based stroke registry over a 19-year period were assessed. A standardized protocol with 161 items, including demographics, risk factors, clinical data, neuroimaging findings, and outcome, was used for data collection. A comparison was made between the groups of primary intraventricular hemorrhage and subcortical intracerebral hemorrhage. Predictors of primary intraventricular hemorrhage were identified by logistic regression analysis. Results. There were 12 patients with primary intraventricular hemorrhage (0.31% of all cases of stroke included in the database) and 133 in the cohort of subcortical hemorrhage. Very old age (≥85 years) (odds ratio (OR) 9.89), atrial fibrillation (OR 8.92), headache (OR 6.89), and altered consciousness (OR 4.36) were independent predictors of intraventricular hemorrhage. The overall in-hospital mortality rate was 41.7% (5/12) but increased to 60% (3/5) in patients aged 85 years or older. Conclusion. Although primary intraventricular hemorrhage is uncommon, it is a severe clinical condition with a high early mortality. The prognosis is particularly poor in very old patients. PMID:22966468

  18. Clinical features, comorbidity, and cognitive impairment in elderly bipolar patients

    PubMed Central

    Rise, Ida Vikan; Haro, Josep Maria; Gjervan, Bjørn

    2016-01-01

    Introduction Data specific to late-life bipolar disorder (BD) are limited. Current research is sparse and present guidelines are not adapted to this group of patients. Objectives We present a literature review on clinical characteristics, comorbidities, and cognitive impairment in patients with late-life BD. This review discusses common comorbidities that affect BD elders and how aging might affect cognition and treatment. Methods Eligible studies were identified in MedLine by the Medical Subject Headings terms “bipolar disorder” and “aged”. We only included original research reports published in English between 2012 and 2015. Results From 414 articles extracted, 16 studies were included in the review. Cardiovascular and respiratory conditions, type II diabetes, and endocrinological abnormalities were observed as highly prevalent. BD is associated with a high suicide risk. Bipolar elderly had an increased risk of dementia and performed worse on cognitive screening tests compared to age-matched controls across different levels of cognition. Despite high rates of medical comorbidity among bipolar elderly, a systematic under-recognition and undertreatment of cardiovascular disease have been suggested. Conclusion There was a high burden of physical comorbidities and cognitive impairment in late-life BD. Bipolar elderly might be under-recorded and undertreated in primary medical care, indicating that this group needs an adapted clinical assessment and specific clinical guidelines need to be established. PMID:27274256

  19. Clinical and pathological features of alcohol-related brain damage.

    PubMed

    Zahr, Natalie M; Kaufman, Kimberley L; Harper, Clive G

    2011-05-01

    One of the sequelae of chronic alcohol abuse is malnutrition. Importantly, a deficiency in thiamine (vitamin B(1)) can result in the acute, potentially reversible neurological disorder Wernicke encephalopathy (WE). When WE is recognized, thiamine treatment can elicit a rapid clinical recovery. If WE is left untreated, however, patients can develop Korsakoff syndrome (KS), a severe neurological disorder characterized by anterograde amnesia. Alcohol-related brain damage (ARBD) describes the effects of chronic alcohol consumption on human brain structure and function in the absence of more discrete and well-characterized neurological concomitants of alcoholism such as WE and KS. Through knowledge of both the well-described changes in brain structure and function that are evident in alcohol-related disorders such as WE and KS and the clinical outcomes associated with these changes, researchers have begun to gain a better understanding of ARBD. This Review examines ARBD from the perspective of WE and KS, exploring the clinical presentations, postmortem brain pathology, in vivo MRI findings and potential molecular mechanisms associated with these conditions. An awareness of the consequences of chronic alcohol consumption on human behavior and brain structure can enable clinicians to improve detection and treatment of ARBD.

  20. Clinical Features of Spontaneous Partial Healing During Mycobacterium ulcerans Infection

    PubMed Central

    Marion, Estelle; Chauty, Annick; Kempf, Marie; Le Corre, Yannick; Delneste, Yves; Croue, Anne; Marsollier, Laurent

    2016-01-01

    Background. Buruli ulcer, caused by Mycobacterium ulcerans, is a necrotizing skin disease leading to extensive cutaneous and subcutaneous destruction and functional limitations. Spontaneous healing in the absence of medical treatment occurs in rare cases, but this has not been well described in the literature. Methods. In a retrospective case study in an area of Benin where this disease is highly endemic, we selected 26 Buruli ulcer patients presenting features of spontaneous healing from a cohort of 545 Buruli ulcer patients treated between 2010 and 2013. Results. The 26 patients studied had a median age of 13.5 years and were predominantly male (1.4:1). Three groups of patients were defined on the basis of their spontaneous healing characteristics. The first group (12 patients) consisted of patients with an ulcer of more than 1 year′s duration showing signs of healing. The second (13 patients) group contained patients with an active Buruli ulcer lesion some distance away from a first lesion that had healed spontaneously. Finally, the third group contained a single patient displaying complete healing of lesions from a nodule, without treatment and with no relapse. Conclusions. We defined several features of spontaneous healing in Buruli ulcer patients and highlighted the difficulties associated with diagnosis and medical management. Delays in consultation contributed to the high proportion of patients with permanent sequelae and a risk of squamous cell carcinoma. Early detection and antibiotic treatment are the best ways to reduce impairments. PMID:26925431

  1. Clinical and molecular features of young-onset colorectal cancer

    PubMed Central

    Ballester, Veroushka; Rashtak, Shahrooz; Boardman, Lisa

    2016-01-01

    Colorectal cancer (CRC) is one of the leading causes of cancer related mortality worldwide. Although young-onset CRC raises the possibility of a hereditary component, hereditary CRC syndromes only explain a minority of young-onset CRC cases. There is evidence to suggest that young-onset CRC have a different molecular profile than late-onset CRC. While the pathogenesis of young-onset CRC is well characterized in individuals with an inherited CRC syndrome, knowledge regarding the molecular features of sporadic young-onset CRC is limited. Understanding the molecular mechanisms of young-onset CRC can help us tailor specific screening and management strategies. While the incidence of late-onset CRC has been decreasing, mainly attributed to an increase in CRC screening, the incidence of young-onset CRC is increasing. Differences in the molecular biology of these tumors and low suspicion of CRC in young symptomatic individuals, may be possible explanations. Currently there is no evidence that supports that screening of average risk individuals less than 50 years of age will translate into early detection or increased survival. However, increasing understanding of the underlying molecular mechanisms of young-onset CRC could help us tailor specific screening and management strategies. The purpose of this review is to evaluate the current knowledge about young-onset CRC, its clinicopathologic features, and the newly recognized molecular alterations involved in tumor progression. PMID:26855533

  2. First Chikungunya Outbreak in Suriname; Clinical and Epidemiological Features

    PubMed Central

    van Genderen, Farah T.; Krishnadath, Ingrid; Sno, Rachel; Grunberg, Meritha G.; Zijlmans, Wilco; Adhin, Malti R.

    2016-01-01

    Background In June 2014, Suriname faced the first Chikungunya outbreak. Since international reports mostly focus on hospitalized patients, the least affected group, a study was conducted to describe clinical characteristics of mainly outpatients including children. In addition, the cumulative incidence of this first epidemic was investigated. Methodology During August and September 2014, clinically suspected Chikungunya cases were included in a prospective follow-up study. Blood specimens were collected and tested for viral RNA presence. Detailed clinical information was gathered through multiple telephone surveys until day 180. In addition, a three stage household-based cluster with a cross-sectional design was conducted in October, December 2014 and March 2015 to assess the cumulative incidence. Principal Findings Sixty-eight percent of symptomatic patients tested positive for Chikungunya virus (CHIKV). Arthralgia and pain in the fingers were distinctive for viremic CHIKV infected patients. Viremic CHIKV infected children (≤12 years) characteristically displayed headache and vomiting, while arthralgia was less common at onset. The disease was cleared within seven days by 20% of the patients, while 22% of the viremic CHIKV infected patients, mostly women and elderly reported persistent arthralgia at day 180. The extrapolated cumulative CHIKV incidence in Paramaribo was 249 cases per 1000 persons, based on CHIKV self-reported cases in 53.1% of the households and 90.4% IgG detected in a subset of self-reported CHIKV+ persons. CHIKV peaked in the dry season and a drastic decrease in CHIKV patients coincided with a governmental campaign to reduce mosquito breeding sites. Conclusions/Significance This study revealed that persistent arthralgia was a concern, but occurred less frequently in an outpatient setting. The data support a less severe pathological outcome for Caribbean CHIKV infections. This study augments incidence data available for first outbreaks in the

  3. Clinical and pathologic features of thymoma in 15 dogs.

    PubMed

    Aronsohn, M G; Schunk, K L; Carpenter, J L; King, N W

    1984-06-01

    Thymoma was diagnosed in 15 dogs at Angell Memorial Animal Hospital between 1972 and 1983. All thymomas developed in the cranial portion of the mediastinum. An autoimmune paraneoplastic syndrome was observed in 10 (67%) of the dogs and included myasthenia gravis, nonthymic neoplasms, and polymyositis. Clinical signs were variable and inconsistent, depending on whether they were attributable to the cranial mediastinal mass or to the paraneoplastic syndrome. Eleven dogs were necropsied. Two thymomas had gross characteristics of malignancy. In 3 cases, a cell consistent with a subclass of mast cell was found and in 1 thymoma, melanocytes were observed.

  4. Vertebral Artery Dissection: Natural History, Clinical Features and Therapeutic Considerations

    PubMed Central

    Park, Kwan-Woong; Park, Jong-Sun; Hwang, Sun-Chul; Im, Soo-Bin; Shin, Won-Han

    2008-01-01

    When a tear occurs in one of the major cervicocerebral arteries and allows blood to enter the wall of the artery and split its layers, the result is either stenosis or aneurysmal dilatation of the vessel. Vertebral artery dissection (VAD) is an infrequent occurrence but is a leading cause of stroke in young and otherwise healthy patients. This article discusses recent developments in understanding of the epidemiology and pathogenesis of VAD and the various clinical manifestations, methods of diagnosis, and approaches to treatment. PMID:19096659

  5. Auditory dysfunction in schizophrenia: integrating clinical and basic features

    PubMed Central

    Javitt, Daniel C.; Sweet, Robert A.

    2015-01-01

    Schizophrenia is a complex neuropsychiatric disorder that is associated with persistent psychosocial disability in affected individuals. Although studies of schizophrenia have traditionally focused on deficits in higher-order processes such as working memory and executive function, there is an increasing realization that, in this disorder, deficits can be found throughout the cortex and are manifest even at the level of early sensory processing. These deficits are highly amenable to translational investigation and represent potential novel targets for clinical intervention. Deficits, moreover, have been linked to specific structural abnormalities in post-mortem auditory cortex tissue from individuals with schizophrenia, providing unique insights into underlying pathophysiological mechanisms. PMID:26289573

  6. Cutaneous invasion from sarcomatoid urothelial carcinoma: clinical and dermatopathologic features*

    PubMed Central

    Bernardes Filho, Fred; de Melo, Alessandro Severo Alves; Pires, Andréa Rodriguez Cordovil; Lupi, Omar; Neves, Daniel Gama das; da Cruz, Margareth Fernandes; Kac, Bernard Kawa

    2016-01-01

    In Brazil, without considering the non-melanoma skin tumors, bladder cancer in men is the eighth most common, and the urothelial carcinoma or transitional cell carcinoma is the most common among these. Cutaneous metastases from urothelial neoplasms appear as single or multiple erythematous, infiltrated nodules or plaques, and like other cases of distant disease, it is indicative of poor prognosis. The invasive urothelial carcinoma is recognized for its ability to present divergent differentiation and morphological variants. The sarcomatoid urothelial carcinoma is a rare cancer that consists of two different components: one composed of epithelial tissue and the other with sarcomatoid features of mesenchymal origin. The authors describe a case of cutaneous metastasis of sarcomatoid urothelial carcinoma in a 63-year-old male patient. PMID:26982782

  7. Central Neurocytoma: A Review of Clinical Management and Histopathologic Features

    PubMed Central

    Lee, Seung J.; Bui, Timothy T.; Chen, Cheng Hao Jacky; Lagman, Carlito; Chung, Lawrance K.; Sidhu, Sabrin; Seo, David J.; Yong, William H.; Siegal, Todd L.; Kim, Minsu

    2016-01-01

    Central neurocytoma (CN) is a rare, benign brain tumor often located in the lateral ventricles. CN may cause obstructive hydrocephalus and manifest as signs of increased intracranial pressure. The goal of treatment for CN is a gross total resection (GTR), which often yields excellent prognosis with a very high rate of tumor control and survival. Adjuvant radiosurgery and radiotherapy may be considered to improve tumor control when GTR cannot be achieved. Chemotherapy is also not considered a primary treatment, but has been used as a salvage therapy. The radiological features of CN are indistinguishable from those of other brain tumors; therefore, many histological markers, such as synaptophysin, can be very useful for diagnosing CNs. Furthermore, the MIB-1 Labeling Index seems to be correlated with the prognosis of CN. We also discuss oncogenes associated with these elusive tumors. Further studies may improve our ability to accurately diagnose CNs and to design the optimal treatment regimens for patients with CNs. PMID:27867912

  8. Clinical feasibility of rapid confocal melanoma feature detection

    NASA Astrophysics Data System (ADS)

    Hennessy, Ricky; Jacques, Steve; Pellacani, Giovanni; Gareau, Daniel

    2010-02-01

    In vivo reflectance confocal microscopy shows promise for the early detection of malignant melanoma. One diagnostic trait of malignancy is the presence of pagetoid melanocytes in the epidermis. For automated detection of MM, this feature must be identified quantitatively through software. Beginning with in vivo, noninvasive confocal images from 10 unequivocal MMs and benign nevi, we developed a pattern recognition algorithm that automatically identified pagetoid melanocytes in all four MMs and identified none in five benign nevi. One data set was discarded due to artifacts caused by patient movement. With future work to bring the performance of this pattern recognition technique to the level of the clinicians on difficult lesions, melanoma diagnosis could be brought to primary care facilities and save many lives by improving early diagnosis.

  9. Central Neurocytoma: A Review of Clinical Management and Histopathologic Features.

    PubMed

    Lee, Seung J; Bui, Timothy T; Chen, Cheng Hao Jacky; Lagman, Carlito; Chung, Lawrance K; Sidhu, Sabrin; Seo, David J; Yong, William H; Siegal, Todd L; Kim, Minsu; Yang, Isaac

    2016-10-01

    Central neurocytoma (CN) is a rare, benign brain tumor often located in the lateral ventricles. CN may cause obstructive hydrocephalus and manifest as signs of increased intracranial pressure. The goal of treatment for CN is a gross total resection (GTR), which often yields excellent prognosis with a very high rate of tumor control and survival. Adjuvant radiosurgery and radiotherapy may be considered to improve tumor control when GTR cannot be achieved. Chemotherapy is also not considered a primary treatment, but has been used as a salvage therapy. The radiological features of CN are indistinguishable from those of other brain tumors; therefore, many histological markers, such as synaptophysin, can be very useful for diagnosing CNs. Furthermore, the MIB-1 Labeling Index seems to be correlated with the prognosis of CN. We also discuss oncogenes associated with these elusive tumors. Further studies may improve our ability to accurately diagnose CNs and to design the optimal treatment regimens for patients with CNs.

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

    PubMed

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

    2016-08-01

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

  11. Nontyphoid salmonella infection: microbiology, clinical features, and antimicrobial therapy.

    PubMed

    Chen, Hung-Ming; Wang, Yue; Su, Lin-Hui; Chiu, Cheng-Hsun

    2013-06-01

    Nontyphoid Salmonella is the most common bacterial pathogen causing gastrointestinal infection worldwide. Most nontyphoid Salmonella infection is limited to uncomplicated gastroenteritis that seldom requires antimicrobial treatment. Nevertheless, invasive infections, such as bacteremia, osteomyelitis, and meningitis, may occur and require antimicrobial therapy. Continuous genetic and genomic evolution in Salmonella leading to increased virulence and resistance to multiple drugs are of significant public health concern. Two major changes in the epidemiology of nontyphoid salmonellosis in Europe and in the USA occurred in the second half of the 20(th) century: the emergence of foodborne human infections caused by Salmonella enterica serotype Enteriditis and by multidrug-resistant strains of Salmonella enterica serotype Typhimurium. In the 21(st) century, a worsening situation is the increasing resistance to fluoroquinolones and third-generation cephalosporins in nontyphoid Salmonella. Clinical isolates showing carbapenem resistance also have been identified. Although antimicrobial therapy is usually not indicated for uncomplicated Salmonella gastroenteritis, recent studies indicated that a short-course ceftriaxone therapy (3-5 days) for patients with severe gastroenteritis would lead to a faster clinical recovery. Continuous surveillance of Salmonella in both humans and animals is mandatory. A better understanding of the mechanisms that lead to the emergence of antimicrobial resistance in Salmonella may help in the devising of better interventional strategies to reduce the spread of resistant Salmonella between humans and reservoirs along the food chain.

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

    PubMed

    May, Arne

    2013-10-01

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

  13. Analysis of clinical features of painless aortic dissection.

    PubMed

    Liu, Zhao-yu; Zou, Yuan-lin; Chai, Bo-lan; Zeng, He-song

    2014-08-01

    The clinical characteristics of painless aortic dissection were investigated in order to improve the awareness of diagnosis and treatment of atypical aortic dissection. The 482 cases of aortic dissection were divided into painless group and pain group, and the data of the two groups were retrospectively analyzed. The major clinical symptom was pain in 447 cases (92.74%), while 35 patients (7.26%) had no typical pain. The gender, age, hypertension, hyperlipidemia, diabetes, smoking and drinking history had no statistically significant differences between the two groups (P>0.05). The proportion of Stanford type A in painless group was significantly higher than that in pain group (48.57% vs. 21.03%, P=0.006). The incidence of unconsciousness in the painless group was significantly higher than that in the pain group (14.29% vs. 3.58%, P=0.011). The incidence of hypotension in painless group was significantly higher than that in pain group for 4.26 folds (P=0.01). Computed tomography angiography (CTA) examination revealed that the incidence of aortic arch involved in the painless group was significantly higher than that in the pain group (19.23% vs. 5.52%, P=0.019). It was concluded that the incidence of painless aortic dissection was higher in Stanford A type patients, commonly seen in the patients complicated with hypotension and unconsciousness. CTA examination revealed higher incidence of aortic arch involvement.

  14. Clinical features of HIV disease in developing countries.

    PubMed

    Grant, A

    2002-06-01

    HIV disease progresses from an asymptomatic period of variable duration, through mild symptoms, to severe disease characteristic of cellular immunodeficiency. The rate of progression from infection to severe disease is probably similar world-wide. However, individuals in developing countries have more symptomatic disease, in keeping with the high incidence of morbidity in the general population, and poor survival with advanced disease. The clinical manifestations of severe HIV-related immunosuppression vary with geographical region. Tuberculosis (TB) is the most important severe opportunistic disease in developing countries: the clinical presentation may differ from TB in the immunocompetent. Bacterial infections, particularly due to Streptococcus pneumoniae and non-typhoid Salmonella spp., are also important causes of morbidity and mortality. Fungal diseases such as Pneumocystis carinii pneumonia (PCP), cryptococcosis, histoplasmosis and penicilliosis vary in prevalence in different geographical regions. A high index of suspicion of HIV infection and knowledge of the local spectrum of HIV disease are important for early diagnosis and appropriate management of HIV-related disease.

  15. Clinical and molecular genetic features of hereditary pulmonary arterial hypertension.

    PubMed

    Brenner, Laura; Chung, Wendy K

    2011-10-01

    Pulmonary arterial hypertension (PAH) is a rare disorder that may be hereditary (HPAH), idiopathic (IPAH), or associated with either drug-toxin exposures or other medical conditions. Familial cases have long been recognised and are usually due to mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2), or, much less commonly, two other members of the transforming growth factor-β superfamily, activin-like kinase-type 1 (ALK1), and endoglin (ENG), which are associated with hereditary hemorrhagic telangiectasia. In addition, approximately 20% of patients with IPAH carry mutations in BMPR2. Clinical testing for BMPR2 mutations is available and may be offered to HPAH and IPAH patients but should be preceded by genetic counselling, since lifetime penetrance is only 10% to 20%, and there are currently no known effective preventative measures. Identification of a familial mutation can be valuable in reproductive planning and identifying family members who are not mutation carriers and thus will not require lifelong surveillance. With advances in genomic technology and with international collaborative efforts, genome-wide association studies will be conducted to identify additional genes for HPAH, genetic modifiers for BMPR2 penetrance, and genetic susceptibility to IPAH. In addition, collaborative studies of BMPR2 mutation carriers should enable identification of environmental modifiers, biomarkers for disease development and progression, and surrogate markers for efficacy end points in clinical drug development, thereby providing an invaluable resource for trials of PAH prevention.

  16. Microscopic Enteritis; clinical features and correlations with symptoms

    PubMed Central

    Shahraki, Touran; Shahraki, Mansour; Bold, Justine; Danciu, Mihai; Al Dulaimi, David; Villanacci, Vincenzo; Bassotti, Gabrio

    2012-01-01

    Aim To assess the clinical characteristic of CD as well as correlation of symptoms and the degrees of intestinal mucosal lesions in Iranian children. Background Microscopic Enteritis (Marsh 0-II) is associated with malabsorption. Patients and methods From August 2005 to September 2009, 111 cases with malabsorption and classical gastrointestinal symptoms were evaluated. Results The mean (±SD) age of children with CD was 4.9±3.5 years (range, 6 month - 16 years) and the mean duration of symptoms was 8 ± 20.5 months. 50 cases (45%) were female and 61 cases (55%) were male. The most common clinical presentation was failure to thrive in 72%, chronic diarrhea in 65.8% and Iron deficiency anemia in 59.5%. Sensitivity of EMA was 100% in patients with Marsh IIIb and Marsh IIIc. EMA was also positive in 77% of cases with Marsh 0, 18% in Marsh I, 44% in Marsh II and 81.8% in patients with Marsh IIIa. Conclusion Histopathology did not reflect the severity of gluten sensitivity. This would suggest that the degree of intestinal mucosal damage might not be a reliable prognostic factor. Significant symptoms can be present with minor histological change on biopsy. PMID:24834216

  17. Otomycosis in Shanghai: aetiology, clinical features and therapy.

    PubMed

    Jia, Xianhao; Liang, Qin; Chi, Fanglu; Cao, Wenjun

    2012-09-01

    Otomycosis is frequently seen in Shanghai and is a challenging problem due to recurrence and resistance to therapy. The aims of this study were to determine the pattern of fungal agents, sex distribution, clinical presentation, predisposing factors, complications and treatment outcomes of otomycosis. Retrospective review of 108 patients with a clinical diagnosis of otomycosis treated from September 2009 to September 2010 in otolaryngology outpatient department. It has been found to be more prevalent in female patients than male patients with a sex ratio (F : M) of 2 : 1. Aspergillus niger (54.78%) followed by Candida albicans (16.52%) were the dominant fungi. Pruritus and otorrhea were the most common presenting complaints. The predisposing factors included frequent scratching of the external ear canal (79.63%), taking ototopical and/or oral antimicrobials (24.07%), diabetes (11.11%) and otologic procedures (7.41%). Residual disease was observed in 9.26% and recurrence in 8.89% of the subjects. Topical Fluconazole ear drops and mechanical debridement of visible fungal elements in the external auditory canal were all relatively effective with 83.33% resolution rate on initial application. The diagnosis of otomycosis requires vigilance from clinicians given its non-specific symptoms. Sometimes mycological examinations are necessary. Treatment regimens such as topical fluconazole coupled with mechanical debridement are generally effective. However, recurrence is not uncommon and eradication of disease can be particularly difficult in patients with diabetes and a mastoid cavity.

  18. Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment.

    PubMed

    Hicks, John; Wartchow, Eric; Mierau, Gary

    2011-10-01

    Glycogen storage diseases (GSD) affect primarily the liver, skeletal muscle, heart, and sometimes the central nervous system and the kidneys. These unique diseases are quite varied in age of onset of symptoms, morbidity, and mortality. Glycogen storage diseases are classified according to their individual enzyme deficiency. Each of these enzymes regulates synthesis or degradation of glycogen. Interestingly, there is great phenotypic variation and variable clinical courses even when a specific enzyme is altered by mutation. Depending on the specific mutation in an enzyme, a GSD patient may have a favorable or unfavorable prognosis. With neonatal or infantile forms, some GSDs lead to death within the first year of life, whereas other glycogen storage diseases are relatively asymptomatic or may cause only exercise intolerance. The paper provides a brief review and update of glycogen storage diseases, with respect to clinical features, genetic abnormalities, pathologic features, and treatment.

  19. Peri-implantitis in a specialist clinic of periodontology. Clinical features and risk indicators.

    PubMed

    Carcuac, Olivier; Jansson, Leif

    2010-01-01

    Implant therapy has become a widely recognized treatment alternative for replacing missing teeth. Several long term follow-up studies have shown that the survival rate is high. However, complications may appear and risk indcators associated with early and late failures have been identified. The purpose of the present retrospective clinical study was to describe some clinical features of patients with clinical signs of peri-implantitis and to identify risk indicators of peri-implantitis in a population at a specialist clinic of Periodontology. In total,the material consisted of 377 implants in 111 patients with the diagnosis peri-implantitis. The mean age at the examination was found to be 56.3 years (range 22-83) for females and 64.1 years (range 27-85) for males. The mean number of remaining teeth was found to be 10.5 (S.D. 8.89) and the mean number of implants was 5.85 (S.D. 3.42). For a majority of the subjects, more than 50% of the remaining teeth had a marginal bone loss of more than 1/3 of the root length. Forty-sex percent of the patients visited regularly dental hygienists for supportive treatment. The percentage of implants with peri-implantitis was significantly increased for smokers compared to non-smokers (p = 0.04). In the group of non-smokers, 64% of the implants had the diagnosis peri-implantitis, while the corresponding relative frequency for smokers was 78%. A majority of the individuals had a Plaque index and Bleeding on probing index >50%. The median of the follow-up time after implant placement was 7.4 years and the observation period was not significantly correlated to the degree of bone loss around the implants. Among the subjects with a mean bone loss >6 mm at implants with peri-implantitis, more than 70% had a mean marginal bone loss > 1/3 of the root length of the remaining teeth. A positive and significant correlation was found between the degree of marginal bone loss in remaining teeth and the degree of bone loss around implants with peri

  20. 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

  1. Recognizing clinical entities in hospital discharge summaries using Structural Support Vector Machines with word representation features

    PubMed Central

    2013-01-01

    Background Named entity recognition (NER) is an important task in clinical natural language processing (NLP) research. Machine learning (ML) based NER methods have shown good performance in recognizing entities in clinical text. Algorithms and features are two important factors that largely affect the performance of ML-based NER systems. Conditional Random Fields (CRFs), a sequential labelling algorithm, and Support Vector Machines (SVMs), which is based on large margin theory, are two typical machine learning algorithms that have been widely applied to clinical NER tasks. For features, syntactic and semantic information of context words has often been used in clinical NER systems. However, Structural Support Vector Machines (SSVMs), an algorithm that combines the advantages of both CRFs and SVMs, and word representation features, which contain word-level back-off information over large unlabelled corpus by unsupervised algorithms, have not been extensively investigated for clinical text processing. Therefore, the primary goal of this study is to evaluate the use of SSVMs and word representation features in clinical NER tasks. Methods In this study, we developed SSVMs-based NER systems to recognize clinical entities in hospital discharge summaries, using the data set from the concept extration task in the 2010 i2b2 NLP challenge. We compared the performance of CRFs and SSVMs-based NER classifiers with the same feature sets. Furthermore, we extracted two different types of word representation features (clustering-based representation features and distributional representation features) and integrated them with the SSVMs-based clinical NER system. We then reported the performance of SSVM-based NER systems with different types of word representation features. Results and discussion Using the same training (N = 27,837) and test (N = 45,009) sets in the challenge, our evaluation showed that the SSVMs-based NER systems achieved better performance than the CRFs

  2. Pathologic Fractures: A Neglected Clinical Feature of Parathyroid Adenoma

    PubMed Central

    Abshirini, Hassan; Rashidi, Iran; Saki, Nader

    2010-01-01

    The pattern of clinical presentation of primary hyperparathyroidism (pHPT) has changed dramatically from a severe disease to an asymptomatic condition in Western countries. The story is completely different in Eastern countries. Bone and joint related sign and symptoms like bone pain and multiple fractures are common in these patients. Imaging and nuclear medicine studies will be helpful specially in patient who candidate for surgical removal of the abnormal parathyroid gland. Here, we present a 48-year-old man with multiple typical fractures in long bones and a single adenoma in his right inferior parathyroid gland. pHPT is a severe, symptomatic disease with serious complications and high morbidity in Iran. Advanced skeletal disease is the most common pattern of presentation. PMID:21209742

  3. Restless legs syndrome: a review of clinical and pathophysiologic features.

    PubMed

    Allen, R P; Earley, C J

    2001-03-01

    Restless legs syndrome (RLS), although long ignored and still much underdiagnosed, disrupts the life and sleep considerably of those who have it. Recent clinical and basic research provides for better definition and pathophysiologic understanding of the disorder. The body of knowledge about this disorder has been expanding rapidly during the past decade and it has altered our concepts of this disorder. This review of RLS covers history, diagnosis, morbidity of sleep disturbance, relation to periodic limb movements in both sleep and waking, secondary causes, severity assessment methods, phenotypes for possible genetic patterns, epidemiology, pathophysiology, and medical treatment considerations. The emphasis on pathophysiology includes consideration of central nervous system localization, neurotransmitter and other systems involved, and the role of iron metabolism. Studies to date support the authors' recently advanced iron-dopamine model of RLS.

  4. Clinical features and prognosis with Guillain-Barré syndrome

    PubMed Central

    Akbayram, Sinan; Doğan, Murat; Akgün, Cihangir; Peker, Erdal; Sayιn, Refah; Aktar, Fesih; Bektaş, Mehmet-Selçuk; Çaksen, Hüseyin

    2011-01-01

    Background: Guillain-Barré syndrome (GBS) is an acute inflammatory polyneuropathy commonly characterized by rapidly progressive, symmetric weakness and areflexia. Materials and Methods: We retrospectively assessed the clinical manifestations, results of electrodiagnostic tests, functional status and prognosis of 36 children diagnosed with GBS. Results: Based on clinical and electrophysiological findings, the patients were classified as having acute inflammatory demyelinating polyradiculoneuropathy (AIDP) (n = 25), acute motor axonal neuropathy (AMAN) (n = 10) and acute motor-sensory axonal neuropathy (AMSAN) (n = 1). Twenty (55.5%) patients were males and 16 (44.5%) patients were females. The mean age of the 36 patients was 68.1 ± 45.01 months (range, 6–180 months). Five (13.8%) patients were younger than 2 years. The most common initial symptoms were limb weakness, which was documented in 34 (94.4%) patients. In our study, 18 patients (51.4%) showed albuminocytological dissociation (raised protein concentration without pleocytosis) on cerebrospinal fluid (CSF) examination. Three patients (8.3%) required mechanical ventilation therapy during hospitalization. Unfortunately, three (8.3%) patients died; one patient had AIDP and two patients had axonal involvement (one case was AMAN and another case was AMSAN). When we compared the cases of residual sequel/dead and cases of complete recovery for neural involvement type including AIDP, AMAN and AMSAN, we did not find a statistically significant difference between the groups (P > 0.05). Conclusion: Our findings showed that cases of GBS was not uncommon in children younger than 2 years of age, and CSF protein level might be found high in the first week of the disease in about one half of the patients, with a higher rate of morbidity and mortality in patients with axonal involvement than in those with AIDP. PMID:21808470

  5. Congenital toxoplasmosis: Clinical features, outcomes, treatment, and prevention

    PubMed Central

    Singh, Sarman

    2016-01-01

    Toxoplasmosis is caused by a coccidian parasite, Toxoplasma gondii. The parasite is highly prevalent both in humans and in warm-blooded animals. Cat family animals are definitive host, and these animals excrete the infective oocysts in their feces. Humans, though not definitive host, get infection by consuming water or food contaminated with cat feces. Rarely, infection can also take place through transfusing the infected blood, through transplantation of infected organs, or transplacentally from infected mother to fetus. Transplacental infection can cause congenital infection with varied degree of clinical manifestations, which depend on the age of fetus when infection took place. Diagnosis of congenital toxoplasmosis is difficult to establish until it is suspected and laboratory investigations are carried out. In more than 75% of cases, acute infection is missed due to very mild or unnoticeable clinical symptoms and signs. In India, a prevalence rate of 22.4% (8.8-37.3%) has been reported with an overall IgM positivity of 1.43%. It is estimated that approximately between 56,737 and 176,882 children per year are born in India with a possible risk of congenital toxoplasmosis. The diagnosis of congenital toxoplasmosis can be made by serological methods which are most commonly used. The other methods are parasite isolation by culture and molecular methods. Toxoplasmosis is treatable and transplacental transmission can be prevented by spiramycin, which concentrates in the placenta. However, if infection has done any damage to the fetus or the parasite has passed the placenta, spiramycin cannot reverse the damage. Prevention remains the best remedy. PMID:27722099

  6. Dorsal Tear of Triangular Fibrocartilage Complex: Clinical Features and Treatment

    PubMed Central

    Abe, Yukio; Moriya, Atsushi; Tominaga, Yasuhiro; Yoshida, Koji

    2016-01-01

    Background Several different triangular fibrocartilage complex (TFCC) tear patterns have been classified through the use of wrist arthroscopy. A tear of the dorsal aspect of the TFCC has been previously reported, but it is not included in Palmer original classification. Our purpose was to describe this type of tear pattern along with the clinical presentation. Methods An isolated dorsal TFCC tear was encountered in seven wrists of six patients (three men and three women; average age was 31 years). All patients were evaluated by physical exam, X-ray, plain axial computed tomography with pronation, neutral and supination position, magnetic resonance imaging (MRI) with coronal, sagittal, and axial section and arthroscopy. Results The clinical findings varied and included the following: tenderness at the dorsoulnar aspect of the wrist was positive in all wrists, fovea sign was positive in five wrists, and tenderness at the dorsal aspect of the distal radioulnar joint was present in one wrist. Pain with forearm rotation was positive in all wrists. The ulnar head ballottement test induced pain in all wrists, whereas dorsal instability of the ulnar head was present in one wrist with this test. The ulnocarpal stress test was positive in five wrists. Axial and sagittal images on MRI revealed the dorsal tear in five wrists. All wrists were treated with an arthroscopic capsular repair. The final functional outcome at an average follow-up of 16.1 months was four excellent and one good wrist according to the modified Mayo wrist score. Conclusions The aim of this article is to describe our experiences with tears involving the dorsal aspect of the TFCC, which may be misdiagnosed if the surgeon is not cognizant of this injury. Type of study/level of evidence Diagnostic/level IV PMID:26855835

  7. Lupus Nephritis in Asia: Clinical Features and Management

    PubMed Central

    Yap, Desmond Y.H.; Chan, Tak Mao

    2015-01-01

    Background Lupus nephritis (LN) is a common and severe organ involvement manifesting itself in systemic lupus erythematosus (SLE). There is a considerable difference in prevalence, severity, treatment response and outcomes between Asian LN patients and LN patients from other racial backgrounds. Summary Asian SLE patients have a higher prevalence of LN than Caucasian SLE patients and often present with a more severe disease. Increasing data from genetic studies, accompanied by progress in high-throughput genotyping, have advanced our knowledge about genetic predispositions that might partly contribute to the clinical variations observed. Corticosteroids combined with either cyclophosphamide (CYC) or mycophenolic acid (MPA) is the current standard-of-care induction regimen for severe LN irrespective of race or ethnicity. However, the preference for MPA or CYC, and possibly the optimum dose for MPA, is influenced by the patient's origin. Also, there is an insufficient evidence base for reduced-dose intravenous CYC in Asian patients. Health economics and access to prompt diagnosis and treatment are still challenging issues in some Asian regions. The former represents a significant obstacle limiting the access of patients to MPA despite the proven efficacy of the drug as an induction agent and its superiority over azathioprine (AZA) in preventing disease flares when used for long-term maintenance immunosuppression. Calcineurin inhibitors such as tacrolimus deserve further investigation in view of their additional effect on podocytes by reducing proteinuria and the promising data from Asian patients. Despite considerable advances in the clinical management of LN over the past few decades with resultant improvements in patients' outcomes, there are still knowledge gaps and unmet clinical needs. Asia has made substantial contributions to the evidence base that guides clinical management and continues to offer invaluable opportunities for research pursuits. Key Messages

  8. [Denial of pregnancy and neonaticide: psychopathological and clinical features].

    PubMed

    Seigneurie, A-S; Limosin, F

    2012-11-01

    Pregnancy denial and neonaticide have recently received media coverage following a series of French cases of neonatal killing. Although it has been known for a long time that some women deny their pregnancy and may kill their newborns, there is still no consensus on the etiopathogenic factors involved in the denial of pregnancy occurrence. Even though neonaticide is often committed by young, poor, unmarried women with little or no prenatal care, it appears that denial of pregnancy is a heterogeneous condition associated with different psychological features. Societies are ambivalent with regard to mothers who killed their children and tend to lay the entire blame on them. Furthermore, there is a widespread lack of understanding among the public on these affairs, when birth control techniques and methods are widely available. The purpose of this article is to describe the different types of pregnancy denial and neonaticide and to review the still debated etiopathogenic hypotheses. The absence of the physical changes of pregnancy at the time of the denial such as cessation of menstruation, abdominal swelling or perception of foetal movements is also discussed.

  9. Defining features of advance directives in law and clinical practice.

    PubMed

    Olick, Robert S

    2012-01-01

    In the > 30 years since the New Jersey Supreme Court's seminal opinion in the case of Karen Ann Quinlan, all 50 states and the District of Columbia have enacted legislation to recognize the legal right of competent adults to write advance directives. The purpose of advance directives is to provide direction for health-care decisions near the end of life, when the ravages of illness, disease, or injury have taken the ability to decide for one's self. This article reviews the defining features of advance directives and the governing law, discusses some common practical concerns regarding the use and effectiveness of advance directives, and identifies several significant ethical-legal challenges for honoring advance directives at the bedside. With a primary focus on the health-care proxy, the anatomy of advance directives is analyzed under four general rubrics: formal requirements, decisional capacity and when the directive takes effect, rights and responsibilities of proxies and health-care providers, and the scope and limitations of decisions to forego life-sustaining treatment. There is much common ground among state laws, but particular legal provisions may vary from state to state. Physicians, nurses, social workers, and other health-care professionals should be familiar with the law of their home state.

  10. Crystal-associated synovitis- ultrasonographic feature and clinical correlation.

    PubMed

    Fodor, Danela; Albu, Adriana; Gherman, Claudia

    2008-01-01

    The aim of this paper is to describe the ultrasonographic findings in rheumatologic pathology due to crystal deposition. There are four main types of crystals involved: monosodium urate, calcium pyrophosphate dihydrate, basic calcium phosphate (hydroxyapatite), and calcium oxalate. In gout the joint fluid is anechoic only at the first gouty attack; afterwards the synovium begins to proliferate. Double contuour sign, a focal or diffuse enhancement of the superficial margin of the articular cartilage is a specific finding. Bursitis has chronic features from the beginning. The ultrasonographic aspect of tophi depends on their age and size (at first small, hypoechoic and homogenous nodules, then echoic with hyperechoic edges and finally pseudotumoral, inhomogeneous). The depositions in the superficial layer are hyperechoic, well delimited only in the absence of inflammatory reaction. The depositions at the entheseal level are leading to the gouty enthesopathy. In knee involvement irregularities of the anterior surface of patella are found. In chondrocalcinosis the most important ultrasonographic signs are the thin hyperechoic band, parallel to the surface of the hyaline cartilage and the punctuated pattern of the fibrocartilage. In hydroxyapatite associated disease, calcifications are frequent in the shoulder or in the great trochanter of the hip, with aspects depending of the calcification phase. Milwakee shoulder is an advanced form of this pathology, associated with rotator cuff arthropathy. Oxalate crystal deposition disease is seen rarely, in patients with primary hyperoxaluria and in patients with end-stage renal disease. Therefore ultrasonography is useful in characterize the articular and juxta-articular alterations in crystal related diseases.

  11. Acute Chorioamnionitis and Funisitis: Definition, Pathologic Features, and Clinical Significance

    PubMed Central

    Kim, Chong Jai; Romero, Roberto; Chaemsaithong, Piya; Chaiyasit, Noppadol; Yoon, Bo Hyun; Kim, Yeon Mee

    2015-01-01

    Acute inflammatory lesions of the placenta consist of diffuse infiltration of neutrophils at different sites in the organ. These lesions include acute chorioamnionitis, funisitis, and chorionic vasculitis, and represent a host response (maternal or fetal) to a chemotactic gradient in the amniotic cavity. While acute chorioamnionitis is evidence of a maternal host response, funisitis and chorionic vasculitis represent fetal inflammatory responses. Intra-amniotic infection has been generally considered to be the cause of acute histologic chorioamnionitis and funisitis; however, recent evidence indicates that “sterile” intra-amniotic inflammation, which occurs in the absence of demonstrable microorganisms but can be induced by “danger signals”, is frequently associated with these lesions. In the context of intra-amniotic infection, chemokines (such as interleukin-8 and granulocyte chemotactic protein) establish a gradient favoring the migration of neutrophils from maternal or fetal circulation into the chorioamniotic membranes or umbilical cord, respectively. Danger signals released during the course of cellular stress or cell death can also induce the release of neutrophil chemokines. The prevalence of chorioamnionitis is a function of gestational age at birth, and is present in 3-5% of placentas delivered at term, but in 94% of placentas delivered between 21-24 weeks of gestation. The frequency is higher in patients with spontaneous labor, preterm labor, clinical chorioamnionitis (preterm or term), or ruptured membranes. Funisitis and chorionic vasculitis are the hallmarks for the fetal inflammatory response syndrome, a condition characterized by an elevation in fetal plasma concentrations of interleukin-6, associated with the impending onset of preterm labor, a higher rate of neonatal morbidity (after adjustment for gestational age), and multi-organ fetal involvement. This syndrome is the counterpart of the systemic inflammatory response syndrome in adults

  12. Psychogenic Facial Movement Disorders: Clinical Features and Associated Conditions

    PubMed Central

    Fasano, Alfonso; Valadas, Anabela; Bhatia, Kailash P; Prashanth, LK; Lang, Anthony E; Munhoz, Renato P; Morgante, Francesca; Tarsy, Daniel; Duker, Andrew P; Girlanda, Paolo; Bentivoglio, Anna Rita; Espay, Alberto J

    2012-01-01

    The facial phenotype of psychogenic movement disorders has not been fully characterized. Seven tertiary-referral movement disorders centers using a standardized data collection on a computerized database performed a retrospective chart review of psychogenic movement disorders involving the face. Patients with organic forms of facial dystonia or any medical or neurological disorder known to affect facial muscles were excluded. Sixty-one patients fulfilled the inclusion criteria for psychogenic facial movement disorders (91.8% females; age: 37.0 ± 11.3 years). Phasic or tonic muscular spasms resembling dystonia were documented in all patients most commonly involving the lips (60.7%), followed by eyelids (50.8%), perinasal region (16.4%), and forehead (9.8%). The most common pattern consisted of tonic, sustained, lateral, and/or downward protrusion of one side of the lower lip with ipsilateral jaw deviation (84.3%). Ipsi- or contralateral blepharospasm and excessive platysma contraction occurred in isolation or combined with fixed lip dystonia (60.7%). Spasms were reported as painful in 24.6% of cases. Symptom onset was abrupt in most cases (80.3%), with at least 1 precipitating psychological stress or trauma identified in 57.4%. Associated body regions involved included upper limbs (29.5%), neck (16.4%), lower limbs (16.4%), and trunk (4.9%). There were fluctuations in severity and spontaneous exacerbations and remissions (60%). Prevalent comorbidities included depression (38.0%) and tension headache (26.4%). Fixed jaw and/or lip deviation is a characteristic pattern of psychogenic facial movement disorders, occurring in isolation or in combination with other psychogenic movement disorders or other psychogenic features. © 2012 Movement Disorder Society PMID:23033125

  13. Clinical utilization of cord blood over human health: experience of stem cell transplantation and cell therapy using cord blood in Korea

    PubMed Central

    2014-01-01

    Cord blood (CB) has been used as an important and ethical source for hematopoietic stem cell transplantation (SCT) as well as cell therapy by manufacturing mesenchymal stem cell, induced pleuripotential stem cell or just isolating mononuclear cell from CB. Recently, the application of cell-based therapy using CB has expanded its clinical utility, particularly, by using autologous CB in children with refractory diseases. For these purposes, CB has been stored worldwide since mid-1990. In this review, I would like to briefly present the historical development of clinical uses of CB in the fields of SCT and cell therapy, particularly to review the experiences in Korea. Furthermore, I would touch the recent banking status of CB. PMID:24778692

  14. [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.

  15. Metabolic brain imaging correlated with clinical features of brain tumors

    SciTech Connect

    Alavi, J.; Alavi, A.; Dann, R.; Kushner, M.; Chawluk, J.; Powlis, W.; Reivich, M.

    1985-05-01

    Nineteen adults with brain tumors have been studied with positron emission tomography utilizing FDG. Fourteen had biopsy proven cerebral malignant glioma, one each had meningioma, hemangiopericytoma, primitive neuroectodermal tumor (PNET), two had unbiopsied lesions, and one patient had an area of biopsy proven radiation necrosis. Three different patterns of glucose metabolism are observed: marked increase in metabolism at the site of the known tumor in (10 high grade gliomas and the PNET), lower than normal metabolism at the tumor (in 1 grade II glioma, 3 grade III gliomas, 2 unbiopsied low density nonenhancing lesions, and the meningioma), no abnormality (1 enhancing glioma, the hemangiopericytoma and the radiation necrosis.) The metabolic rate of the tumor or the surrounding brain did not appear to be correlated with the history of previous irradiation or chemotherapy. Decreased metabolism was frequently observed in the rest of the affected hemisphere and in the contralateral cerebellum. Tumors of high grade or with enhancing CT characteristics were more likely to show increased metabolism. Among the patients with proven gliomas, survival after PETT scan tended to be longer for those with low metabolic activity tumors than for those with highly active tumors. The authors conclude that PETT may help to predict the malignant potential of tumors, and may add useful clinical information to the CT scan.

  16. 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

  17. Clinical Features of 294 Turkish Patients with Chronic Myeloproliferative Neoplasms

    PubMed Central

    Andıç, Neslihan; Ünübol, Mustafa; Yağcı, Eren; Akay, Olga Meltem; Yavaşoğlu, İrfan; Kadıköylü, Vefki Gürhan; Bolaman, Ali Zahit

    2016-01-01

    Objective: Myeloproliferative neoplasms (MPNs) share common clonal stem cells but show significant differences in their clinical courses. The aim of this retrospective study was to evaluate thrombotic and hemorrhagic complications, JAK2 status, gastrointestinal and cardiac changes, treatment modalities, and survival in MPNs in Turkish patients. Materials and Methods: Medical files of 294 patients [112 essential thrombocythemia (ET), 117 polycythemia vera (PV), 46 primary myelofibrosis, and 19 unclassified MPN cases] from 2 different universities in Turkey were examined. Results: Older age, higher leukocyte count at diagnosis, and JAK2 mutation positivity were risk factors for thrombosis. Platelet count over 1000x109/L was a risk factor for hemorrhagic episodes. Hydroxyurea treatment was not related to leukemic transformation. Median follow-up time was 50 months (quartiles: 22.2-81.75) in these patients. Patients with primary myelofibrosis had the shortest survival of 137 months when compared with 179 months for ET and 231 months for PV. Leukemic transformation, thromboembolic events, age over 60 years, and anemia were found to be the factors affecting survival. Conclusion: Thromboembolic complications are the most important preventable risk factors for morbidity and mortality in MPNs. Drug management in MPNs is done according to hemoglobin and platelet counts. Based on the current study population our results support the idea that leukocytosis and JAK2 positivity are more important risk factors for thrombosis than hemoglobin and platelet values. PMID:27094255

  18. Symptomatic cranial neuralgias in multiple sclerosis: clinical features and treatment.

    PubMed

    De Santi, Lorenzo; Annunziata, Pasquale

    2012-02-01

    In multiple sclerosis, neuropathic pain is a frequent condition, negatively influencing the overall quality of life. Cranial neuralgias, including trigeminal, glossopharyngeal neuralgias, as well as occipital neuralgia, are typical expression of neuropathic pain. Neuralgias are characterised by paroxysmal painful attacks of electric shock-like sensation, occurring spontaneously or evoked by innocuous stimuli in specific trigger areas. In multiple sclerosis, demyelination in the centrally myelinated part of the cranial nerve roots plays an important role in the origin of neuralgic pain. These painful syndromes arising in multiple sclerosis are therefore considered "symptomatic", in contrast to classic cranial neuralgias, in which no cause other than a neurovascular contact is identified. At this time, the evidence on the management of symptomatic cranial neuralgias in multiple sclerosis is fragmentary and a comprehensive review addressing this topic is still lacking. For that reason, treatment is often based on personal clinical experience as well as on anecdotal reports. The aim of this review is to critically summarise the latest findings regarding the pathogenesis, the diagnosis, the instrumental evaluation and the medical as well as neurosurgical treatment of symptomatic trigeminal, glossopharyngeal and occipital neuralgia in multiple sclerosis, providing useful insights for neurologists and neurosurgeons and a broad range of specialists potentially involved in the treatment of these painful syndromes.

  19. Eruption cysts: A series of 66 cases with clinical features

    PubMed Central

    Şen-Tunç, Emine; Şaroğlu-Sönmez, Işıl; Bayrak, Şule; Tüloğlu, Nuray

    2017-01-01

    Background An eruption cyst (EC) is a benign, developmental cyst associated with a primary or permanent tooth. This paper presents 66 ECs in 53 patients who reported to 3 different centers in Turkey between 2014-2015. Material and Methods 53 patients (31 male, 22 female) with 66 ECs were diagnosed and treated over a 1-year period. The mean age of patients was 5.4 years (minimum 5 months, maximum 11 years). Clinical examination and periapical radiographs were used to establish diagnosis. Age, gender, site, history of trauma and type of treatment were recorded. Results Of the 66 ECs diagnosed in 53 patients, more than half (56.6%) were located in the maxilla, with the maxillary first primary molars the teeth most commonly associated with ECs (30.3%). Multiple ECs were diagnosed in 13 of the 53 patients. ECs had previously diagnosed in the primary dentition of 2 patients, 3 patients reported a history of trauma to primary teeth. In the majority of patients (46 cases, 86.8%), no treatment was provided, whereas surgical treatment was provided in the remaining 7 cases (13.2%). Conclusions Eruption cysts are usually asymptomatic and do not require treatment;. however, if the cyst is symptomatic, it should be treated with simple surgical excision. Key words:Odontogenic cyst, children, eruption cyst, oral pathology. PMID:28160586

  20. Correlations of clinical, neuroimaging, and electrophysiological features in Hirayama disease

    PubMed Central

    Liao, Ming-Feng; Chang, Hong-Shiu; Chang, Kuo-Hsuan; Ro, Long-Sun; Chu, Chun-Che; Kuo, Hung-Chou; Lyu, Rong-Kuo

    2016-01-01

    Abstract Hirayama disease (HD) is characterized by development of asymmetric forearm muscle atrophy during adolescence with or without focal cervical spinal cord atrophy. The purpose of this study is to assess the correlation of clinical symptoms, disease progression, and electrophysiological findings with cervical spine magnetic resonance imaging (MRI) findings. The medical records, cervical spine MRIs, and electrophysiological findings of 44 HD patients were retrospectively reviewed and analyzed. Denervation changes in any single C5 to C7 root-innervated muscle (deltoid, biceps, triceps, or extensor digitorum communis) occurred more frequently in the 25 patients with cord atrophy than the 19 patients without cord atrophy (88% vs 53%, P = 0.02). Onset age, duration of disease progression, neurological examinations, nerve conduction study, and electromyographic findings from individual muscles were similar between patient groups. Compared with HD patients without cord atrophy, HD patients with cord atrophy experience a more severe denervation change in C5 to C7 root-innervated muscles. PMID:27428223

  1. [Systemic lupus erythematosus and lymphopenia: Clinical and pathophysiological features].

    PubMed

    Martin, M; Guffroy, A; Argemi, X; Martin, T

    2017-02-14

    Lymphopenia is frequent in systemic lupus erythematosus (SLE) and profound (<500/mm(3)) in 10% of cases. T lymphocytes, especially CD4+, are more affected than B cells. The pathophysiological mechanisms are complex, involving lymphocytotoxic antibodies, excess of apoptosis, increased susceptibility of T cells to complement mediated cytolysis, as well as lymphopoiesis impairment and lymphocyte sequestration. Lymphopenia in SLE is independent from other cytopenia and immunosuppressive drug regiments, and associated with disease activity, risk of flare and damage scores. Infectious risk is mostly bacterial, and lymphopenia <1 G/L is an independent risk factor for severe bacterial infections occurrence. The T cellular deficiency is associated with less control of viral replication, but severe and symptomatic infections are scarce. Although exceptional in SLE, pneumocystis is more severe than in HIV+ patients, and risk of progressive multifocal leukoencephalopathy seems increased compared to other rheumatic diseases. To date, there are no specific recommendations for management of SLE with lymphopenia. Infectious prophylaxis should remain exceptional and discussed on a case by case basis. Further studies are needed to assess the clinical characteristics and outcomes of patients with SLE and profound lymphopenia (<500/mm(3)), which are probably a subset of SLE with primary immunodeficiency and require specific management.

  2. [Clinical features of solid malignant tumors in childhood].

    PubMed

    Koshinaga, Tsugumichi; Ohashi, Kensuke; Sugitou, Kiminobu; Ikeda, Tarou

    2013-07-01

    The pathogenesis of pediatric malignant tumors is associated with congenital abnormalities. Oncogenes and antioncogenes are identified in some of these cases. Neuroblastoma arises from the adrenal medulla and sympathetic ganglia. Most neuroblastomas produce catecholamine. Urinary vanillylmandelic acid(VMA)and homovanillic acid(HVA), metabolites of catecholamine, are sensitive tumor markers. Risk stratification according to tumor stage and a combination of prognostic factors helps determine the appropriate therapeutic strategy in clinical settings. Nephroblastoma(Wilms tumor)is the most common pediatric renal tumor and is often accompanied by congenital anomalies. Surgical resection of the tumor and the involved kidney is the initial treatment recommendation in the US and Japan. Consecutive chemotherapy and radiotherapy are administered after surgical staging and a definite histopathological diagnosis. Prognosis is relatively good for most nephroblastoma cases with a favorable histology. In addition to nephroblastoma, clear cell sarcoma of the kidney, characterized by a tendency to metastasize to the bone, is a renal tumor with poor prognosis. Rhabdoid tumor of the kidney is another tumor type; however, its pathogenesis is still unknown and it is associated with extremely poor prognosis because of the lack of effective therapeutic measures. Hepatoblastoma is the most common malignant liver tumor. The serum alpha-fetoprotein level is the most effective tumor marker. Complete surgical resection of the involved liver lobe is the definitive approach for cure. Preoperative chemotherapy increases the possibility of complete surgical resection. High-risk patients have a poor prognosis.

  3. Folliculotropic Mycosis Fungoides: Clinical and Histologic Features in Five Patients

    PubMed Central

    Ehsani, Amir Hooshang; Azizpour, Arghavan; Noormohammadpoor, Pedram; Seirafi, Hasan; Farnaghi, Farshad; Kamyab-Hesari, Kambiz; Sharifi, Mehdi; Nasimi, Maryam

    2016-01-01

    Background: Alopecia can be a manifestation of mycosis fungoides (MF); however, the prevalence is unknown. Aims: We sought to describe the clinicopathologic presentation of alopecia in patients with diagnosis of MF. Methods: A retrospective analysis of patients with biopsy-proven MF, who were evaluated at our cancer center from 2002 to 2012, was performed to identify patients with alopecia. Results: Five patients with alopecia were identified from reviewing of 157 patients with MF. The male:female ratio was 3:2, and the mean age of patients was 42.8 years. Two of these patients showed patchy hair loss on scalp which was clinically identical to alopecia areata. In remaining three patients, hair loss was seen in areas of MF lesions, and epidermal changes consisted of patch- and plaque-type lesions of MF, tumors, and follicular lesions (follicular MF) were also present. In two of these patients, lymphadenopathy without any visceral involvement was detected. Conclusions: Alopecia was observed in 5 (3.18%) patients with MF, which makes it a rare finding, which included alopecia areata-like patchy loss in 2 and alopecia within MF lesions in 3. PMID:27688448

  4. Retroperitoneal fibrosis: retrospective descriptive study on clinical features and management

    PubMed Central

    Laroche, Ann-Sophie; Bell, Robert Z; Bezzaoucha, Sarah; Földes, Eva; Lamarche, Caroline; Vallée, Michel

    2016-01-01

    Introduction Retroperitoneal fibrosis (RPF) is a rare condition characterized by the presence of inflammatory and fibrous retroperitoneal tissue that often encases the ureters or abdominal organs. This study describes the clinical characteristics, diagnostic methods, and treatments and their effects on renal function. Methods We conducted a retrospective analysis of patients diagnosed with RPF at Maisonneuve-Rosemont Hospital. Results We identified 17 patients with RPF between 1998 and 2013. Eight patients were females (47%), and the mean age was 62±18 years. Eleven patients were idiopathic. Back pain was the most common symptom. All diagnoses were made based on the finding of a retroperitoneal mass on the computed tomography scan. Three patients had histological diagnosis of RPF and seven patients had unspecific changes on their biopsy. Twelve patients needed double-J stents, three patients had a temporary percutaneous nephrostomy, two patients had to have a nephrectomy for refractory ureteral obstruction, and one patient required hemodialysis. Ten patients with idiopathic RPF received medical treatment. In the treated group, only two patients had complete remission of the disease and five patients had improvement of their lesions. There were no deteriorations and only one relapse. Seven patients did not receive any treatment; two of them achieved complete remission, one of them deteriorated, and two of them had no changes. Conclusion Most of our cases of RPF were idiopathic. Almost all treated patients received prednisone and seemed to respond, at least partially. There was a lot of heterogeneity in patient management, which makes it difficult to compare treatment effects. However, treated patients seemed to have more favorable outcomes than those who were not. PMID:27822461

  5. Otomycosis; clinical features, predisposing factors and treatment implications

    PubMed Central

    Anwar, Khurshid; Gohar, Muhammad Shahid

    2014-01-01

    Objectives : The aim of this study was to determine the frequency of otomycosis, the clinical presentation, predisposing factors and treatment outcomes. Methods: This observational study was conducted at ENT department of Combined Military Hospital Attock, from October, 2010 to September, 2012. Convenient sample comprising 180 patients of both sexes and all age groups were selected from ENT OPD. The frequency, predisposing factors and most common symptoms of otomycosis were recorded. The response to different antifungal agents was also observed. Results were recorded in percentages. Results: There were 180 patients with documented diagnosis of otomycosis. There were 107 (59%) males and 73 (41%) females. The age of patients ranged from 1½ years to 75 years with a mean age of 38.5 years. Mean follow up time was 2 years. Most common presenting symptom was hearing loss (77.7%) followed by pruritis (68.8%) and otalgia (40%). We prescribed 1% clotrimazole drops or lotion in 58% patients and 2% salicylic acid in 31% cases. Both of these agents are effective. Topical 1% clotrimazole drops yielded highest resolution rate with lowest recurrent rate. Overall 149 (83%) patients were improved with initial treatment and 31 (17%) did not respond to initial treatment. Eight (4.4%) patients had a history of otological procedures. Four (2.2%) patients had canal wall down procedures that resulted in mastoid cavity. To analyse the efficacy of 1% clotrimazole and 2% salicylic acid we applied Z-Test to calculate the difference between 2 proportions of patients before treatment with those patients who remained uncured after treatment. Conclusion: Otomycosisis commonly presented with decreased hearing, pruritis, otalgia & otorrhoea. It usually resolves with local toilet of ear and instillation of antifungal agents. Eradication of disease is difficult in presence of a mastoid cavity and metabolic diseases like diabetes mellitus. PMID:24948980

  6. The Noonan Syndrome--A Review of the Clinical and Genetic Features of 27 Cases

    ERIC Educational Resources Information Center

    Collins, Edith; Turner, Gillian

    1973-01-01

    Reviewed were clinical and genetic features of 27 cases of the Noonan Syndrome, a condition with characteristics such as webbing of the neck, short stature, frequent congential heart lesions, and chromosomal irregularities. (DB)

  7. Uncommon non-Hodgkin lymphomas of childhood: pathological diagnosis, clinical features and treatment approaches.

    PubMed

    Sandlund, John T; Perkins, Sherrie L

    2015-06-01

    We provide a review of the pathological and clinical features for uncommon B-cell and T-cell lymphomas of childhood with a specific focus on advances in treatment approaches and outcomes. There is clearly a need for prospective investigation of both the clinical and biological features of the uncommon non-Hodgkin lymphoma subtypes in childhood. These results should lead to more uniform and more effective treatment approaches.

  8. Clinical Characteristics and Treatment Outcome of Peginterferon Plus Ribavirin in Patients Infected with Genotype 6 Hepatitis C Virus in Korea: A Multicenter Study

    PubMed Central

    Shin, Su Rin; Kim, Young Seok; Lim, Young-Seok; Lee, June Sung; Lee, Jin Woo; Kim, Sun Myung; Jeong, Sook-Hyang; Sohn, Joo Hyun; Lee, Myung Seok; Park, Sang Hoon

    2017-01-01

    Background/Aims Because of the limited geographic distribution, there have been insufficient data regarding hepatitis C virus (HCV) genotype 6 in Korea. This study aimed to investigate the clinical characteristics and available treatment outcomes of patients with genotype 6 HCV in Korea. Methods From 2004 to 2014, data were collected from Korean patients infected with genotype 6 HCV in eight hospitals. Results Thirty-two patients had genotype 6 HCV. The median age was 44 years, and 6c was the most common subtype. The baseline median alanine transaminase level was 88 (21 to 1,019) IU/mL, and the HCV RNA level was 1,405,000 (96,500 to 28,844,529) IU/mL. Twenty-five patients were treated with peginterferon (PEG-IFN) and ribavirin. Three follow-up losses occurred. Additionally, 13 patients attained a sustained virologic response (SVR), seven patients relapsed, and two patients exhibited a null response. The SVR rates were 40% and 75% for the 24- and more than 48-week treatments, respectively, and five of the six patients who achieved a rapid virologic response (RVR) attained a SVR. Conclusions Korean patients infected with genotype 6 HCV are relatively young, and 6c is the most common subtype. When treated with PEG-IFN and ribavirin, the SVR rate was 52%. Similar to other genotypes, a longer duration of treatment and attainment of RVR are important for SVR. PMID:27728965

  9. [Clinical features of narrow-angle glaucoma in the native residents of Turkmenistan].

    PubMed

    Orazmukhammedov, Iu G

    1991-01-01

    The author analyzes the specific clinical features of narrow-angle glaucoma in the native residents of Turkmenistan and in the residents of a european origin. He has found some specific anatomic and functional features that may be considered as factors predisposing to the development of narrow-angle glaucoma in Turkmenistan natives.

  10. Non-Hodgkin lymphoma in South East Asia: An analysis of the histopathology, clinical features, and survival from Thailand.

    PubMed

    Intragumtornchai, Tanin; Bunworasate, Udomsak; Wudhikarn, Kitsada; Lekhakula, Arnuparp; Julamanee, Jakrawadi; Chansung, Kanchana; Sirijerachai, Chittima; Norasetthada, Lalita; Nawarawong, Weerasak; Khuhapinant, Archrob; Siritanaratanakul, Noppadol; Numbenjapon, Tontanai; Prayongratana, Kannadit; Chuncharunee, Suporn; Niparuck, Pimjai; Suwanban, Tawatchai; Kanitsap, Nongluk; Wongkhantee, Somchai; Pornvipavee, Rutchanid; Wong, Peerapon; Makruasi, Nisa; Wannakrairot, Pongsak; Assanasen, Thamathorn; Sukpanichnant, Sanya; Boonsakan, Paisarn; Kanoksil, Wasana; Ya-In, Charin; Kayasut, Kanita; Mitranun, Winyu; Warnnissorn, Naree

    2017-03-23

    Systemic reports on the descriptive epidemiology of non-Hodgkin lymphoma (NHL) from Southeast Asia are scarce. A nationwide multi-institutional registry was conducted to compare the histopathology, clinical features, and survival of Thai adult patients with NHL using large registries, especially those from Far East Asia (FEA). Using a web-based registry system, 13 major medical centers from the 4 geographic regions of Thailand prospectively collected, from 2007 to 2014, the diagnostic pathology, according to the World Health Organization classification, 2008, clinical features and survival of 4056 patients who were newly diagnosed with NHL. The median age of the patients was 56 years (range, 16-99 years). The male-to-female ratio was 1.3:1. From the total of 4056 patients, T/NK-cell lymphoma (TNKCL) accounted for 12.6% of cases, and 5.1% had human immunodeficiency virus-associated lymphoma. The four leading histological subtypes were diffuse large B-cell lymphoma, not otherwise specified (58.1%); follicular lymphoma (5.6%); extranodal mucosa-associated lymphoid tissue lymphoma (5.2%); and peripheral T-cell lymphoma, not otherwise specified (4.0%). With a median follow-up duration of 46.1 months, the median overall survival of B-cell NHL was significantly longer than that of patients with TNKCL (76.5 vs 28.8 months, P = .0001). Compared to FEA, the Thai registry had an approximately one-half lower relative frequency of TNKCL; the prevalence of extranodal mucosa-associated lymphoid tissue lymphoma was much lower than in Korea, and the frequency of extranodal TNKCL, nasal type, was strikingly low compared to China. It is concluded that while the median age of Thai patients with NHL was approximately a decade younger than for Caucasians, the long-term survival rates for most histological subtypes were comparable. While the histological distribution generally complied with the characteristic Asian features, some differences from FEA were observed.

  11. Clinical Features to Identify UTI in Nursing Home Residents: A Cohort Study

    PubMed Central

    Juthani-Mehta, Manisha; Quagliarello, Vincent; Perrelli, Eleanor; Towle, Virginia; Van Ness, Peter H.; Tinetti, Mary

    2009-01-01

    Objective To identify, among non-catheterized nursing home residents with clinically suspected UTI, clinical features associated with bacteriuria plus pyuria. Design Prospective, observational cohort study from 2005 to 2007. Setting Five New Haven, CT area nursing homes. Participants 551 nursing home residents each followed for one year for the development of clinically suspected UTI. Measurements The combined outcome of bacteriuria (>100,000 colony forming units on urine culture) plus pyuria (>10 white blood cells on urinalysis). Results After 178,914 person-days of follow-up, 228 participants had 399 episodes of clinically suspected UTI with a urinalysis and urine culture performed; 147 episodes (37%) had bacteriuria plus pyuria. The clinical features associated with bacteriuria plus pyuria were dysuria (relative risk [RR]=1.58, 95% confidence interval [CI] 1.10, 2.03), change in character of urine (RR=1.42, 95% CI 1.07, 1.79), and change in mental status (RR=1.38, 95% CI 1.03, 1.74). Conclusions Dysuria, change in character of urine, and change in mental status were significantly associated with the combined outcome of bacteriuria plus pyuria. Absence of these clinical features identified residents at low risk of having bacteriuria plus pyuria (25%), while presence of dysuria plus one or both of the other clinical features identified residents at high risk of having bacteriuria plus pyuria (63%). Diagnostic uncertainty still remains for the vast majority of residents who meet only one clinical feature. If validated in future cohorts, these clinical features with bacteriuria plus pyuria may serve as an evidence-based clinical definition of UTI to assist in management decisions. PMID:19490243

  12. Clinical-Epidemiological Features of 13 Cases of Melioidosis in Brazil

    PubMed Central

    Bandeira, Tereza J. P. G.; Cordeiro, Rossana A.; Grangeiro, Thalles B.; Lima, Rita A. C.; Ribeiro, Joyce F.; Castelo-Branco, Débora S. C. M.; Rodrigues, Jorge L. N.; Coelho, Ivo C. B.; Magalhães, Francisco G.; Rocha, Marcos F. G.; Sidrim, José J. C.

    2012-01-01

    The aim of this work was to catalog the clinical and ecoepidemiological characteristics of melioidosis in Brazil. The clinical-epidemiological features of melioidosis in Ceará are similar to those in other regions where the disease is endemic. These findings support the inclusion of this Brazilian state as part of the zone of endemicity for melioidosis. PMID:22814457

  13. Detection and Classification of Cancer from Microscopic Biopsy Images Using Clinically Significant and Biologically Interpretable Features

    PubMed Central

    Kumar, Rajesh; Srivastava, Subodh

    2015-01-01

    A framework for automated detection and classification of cancer from microscopic biopsy images using clinically significant and biologically interpretable features is proposed and examined. The various stages involved in the proposed methodology include enhancement of microscopic images, segmentation of background cells, features extraction, and finally the classification. An appropriate and efficient method is employed in each of the design steps of the proposed framework after making a comparative analysis of commonly used method in each category. For highlighting the details of the tissue and structures, the contrast limited adaptive histogram equalization approach is used. For the segmentation of background cells, k-means segmentation algorithm is used because it performs better in comparison to other commonly used segmentation methods. In feature extraction phase, it is proposed to extract various biologically interpretable and clinically significant shapes as well as morphology based features from the segmented images. These include gray level texture features, color based features, color gray level texture features, Law's Texture Energy based features, Tamura's features, and wavelet features. Finally, the K-nearest neighborhood method is used for classification of images into normal and cancerous categories because it is performing better in comparison to other commonly used methods for this application. The performance of the proposed framework is evaluated using well-known parameters for four fundamental tissues (connective, epithelial, muscular, and nervous) of randomly selected 1000 microscopic biopsy images. PMID:27006938

  14. 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

  15. [Early clinical features of severe peripheral facial paralysis and acupuncture strategies].

    PubMed

    Wang, Sheng-Qiang; Li, Yun; Bai, Ya-Ping

    2010-05-01

    In order to have a good grasp of rules of acupuncture for severe peripheral facial paralysis, the early clinical features of severe peripheral facial paralysis (Bell's palsy) are studied and analyzed from the aspect of injury level, injury degrees, clinical syndromes and symptoms; consequently, the treatment strategies with acupuncture are proposed. The severe peripheral facial paralysis is an important research area in clinic trials which verifies the effectiveness of acupuncture treatment.

  16. Hepatitis B Virus Genotype C Prevails Among Chronic Carriers of the Virus in Korea

    PubMed Central

    Bae, Si Hyun; Yoon, Seung Kew; Jang, Jeong Won; Kim, Chang Wook; Nam, Soon Woo; Choi, Jong Young; Kim, Boo Sung; Park, Young Min; Suzuki, Seiji; Sugauchi, Fuminaka

    2005-01-01

    Hepatitis B virus (HBV) is one of the major causative agents of chronic liver diseases in Korea. HBV has been classified into 8 genotypes by a divergence of >8% in the entire genomic sequence, and have distinct geographic distributions. There are limited data on the relevance between HBV genotypes and clinical outcomes in Korea. To investigate the clinical feature relating to HBV genotype in Korea, a total 120 serum samples with HBsAg (65 from Seoul and 55 from the other city in Korea) were obtained from each 30 chronic HBV carriers with asymptomatic carrier (ASC), chronic hepatitis (CH), liver cirrhosis (LC) and hepatocellular carcinoma (HCC). HBV genotype was determined by either enzyme-linked immunosorbent assay (ELISA) using monoclonal antibodies against genotype-specific epitopes in the preS2-region or the direct sequencing of small S gene. HBV genotypes were determined in 105 (87.5%) of 120 samples. HBV genotype C was identified in all HBV carriers with ASC, CH, LC, and HCC. Genotypes A, B, D, E, F and G were not detected in any of them. Genotype C HBV prevails predominantly among chronic carriers of the virus in Korea, irrespective of their clinical stages of liver disease and geographic origin. PMID:16224156

  17. Clinical Features and Courses of Adenovirus Pneumonia in Healthy Young Adults during an Outbreak among Korean Military Personnel

    PubMed Central

    Park, Ji Young; Kim, Bong-Joon; Lee, Eun Jung; Park, Kwi Sung; Park, Hee Sun; Jung, Sung Soo; Kim, Ju Ock

    2017-01-01

    Background The number of pneumonia patients increased suddenly in Korean military hospitals in late December 2014, indicating the urgent need for an epidemic outbreak investigation. Methods We conducted a prospective study of pneumonia etiology among immunocompetent young adults admitted to Daejeon Armed Forces hospital. Patient blood and sputum samples were subjected to conventional culture, serology, and polymerase chain reaction tests for respiratory viruses and atypical pathogens. Results From January to May 2015, we enrolled 191 (189 male) adults with pneumonia; the mean age was 20.1 ± 1.3 years. Five patients had severe pneumonia, and one died. Pathogenic human adenoviruses were most common (HAdV, 153/191 [80.1%]), indicating a HAdV pneumonia outbreak. Genotyping of 35 isolates indicated that 34 matched HAdV-55 and one matched HAdV-2. HAdV pneumonia infected recruit trainees most frequently. High and prolonged fever, nasal congestion, sore throat, and pharyngeal inflammation were significantly more common in the HAdV pneumonia group, compared to patients with other or unknown causes of pneumonia. Only 12% of HAdV pneumonia patients displayed leukocytosis, whereas febrile leukopenia (62.7%) and thrombocytopenia (41%) were commonly observed. HAdV pneumonia patient chest CT scans displayed ground glass opacity (with or without septal thickness) with consolidation in 50.0% of patients. Conclusions An outbreak of HAdV respiratory infection occurred at the Korean military training center. HAdV pneumonia exhibited specific laboratory and clinical features, and although most patients were cured without complication, some progressed to respiratory failure and fatality. Therefore, HAdV vaccine should be provided to military trainees in Korea. PMID:28114362

  18. Stable feature selection for clinical prediction: exploiting ICD tree structure using Tree-Lasso.

    PubMed

    Kamkar, Iman; Gupta, Sunil Kumar; Phung, Dinh; Venkatesh, Svetha

    2015-02-01

    Modern healthcare is getting reshaped by growing Electronic Medical Records (EMR). Recently, these records have been shown of great value towards building clinical prediction models. In EMR data, patients' diseases and hospital interventions are captured through a set of diagnoses and procedures codes. These codes are usually represented in a tree form (e.g. ICD-10 tree) and the codes within a tree branch may be highly correlated. These codes can be used as features to build a prediction model and an appropriate feature selection can inform a clinician about important risk factors for a disease. Traditional feature selection methods (e.g. Information Gain, T-test, etc.) consider each variable independently and usually end up having a long feature list. Recently, Lasso and related l1-penalty based feature selection methods have become popular due to their joint feature selection property. However, Lasso is known to have problems of selecting one feature of many correlated features randomly. This hinders the clinicians to arrive at a stable feature set, which is crucial for clinical decision making process. In this paper, we solve this problem by using a recently proposed Tree-Lasso model. Since, the stability behavior of Tree-Lasso is not well understood, we study the stability behavior of Tree-Lasso and compare it with other feature selection methods. Using a synthetic and two real-world datasets (Cancer and Acute Myocardial Infarction), we show that Tree-Lasso based feature selection is significantly more stable than Lasso and comparable to other methods e.g. Information Gain, ReliefF and T-test. We further show that, using different types of classifiers such as logistic regression, naive Bayes, support vector machines, decision trees and Random Forest, the classification performance of Tree-Lasso is comparable to Lasso and better than other methods. Our result has implications in identifying stable risk factors for many healthcare problems and therefore can

  19. The dynamic evolution of rheumatology in Korea.

    PubMed

    Kim, Ho-Youn; Song, Yeong-Wook

    2016-03-01

    Rheumatology was first recognized as a distinct clinical specialty in Korea just 35 years ago. Young professors who were trained in rheumatology in the USA and afterwards returned to Korea contributed substantially to advances in rheumatology clinical practice, educational programmes and research activities. They also established the Korean Rheumatism Association, later renamed the Korean College of Rheumatology. These young rheumatologists had a major role not only in raising the level of clinical and scientific activities, but also in promoting academic exchanges around the Asia-Pacific region, the USA and Europe. Subsequently, Korea's rapid economic growth and high education level enabled rheumatology to advance rapidly. Today, continued efforts are required to raise the standard of clinical and basic research, to optimize clinical practice with regard to new biologic agents, to exploit personalized and targeted therapies for the rheumatic diseases, and to meet the medical demands of Korea's ageing society.

  20. Clinical features of seizures in patients with human immunodeficiency virus infection.

    PubMed

    Kim, Hyun Kyung; Chin, Bum Sik; Shin, Hyoung-Shik

    2015-06-01

    Patients with human immunodeficiency virus (HIV) infection have a higher burden of seizures, but few studies have examined seizures in HIV-infected individuals in Korea. A retrospective study was conducted to determine the epidemiology and clinical characteristics of seizures in patients with HIV infection. Among a total of 1,141 patients, 34 (3%) had seizures or epilepsy; 4 of these individuals had epilepsy before HIV infection, and the others showed new-onset seizures. Most patients exhibited moderate (200 to 500, n = 13) or low (below 200, n = 16) CD4 counts. The most common seizure etiology was progressive multifocal leukoencephalopathy (n = 14), followed by other HIV-associated central nervous system (CNS) complications (n = 6). Imaging studies revealed brain lesions in 21 patients. A total of 9 patients experienced only one seizure during the follow-up period, and 25 patients experienced multiple seizures or status epilepticus (n = 2). Multiple seizures were more common in patients with brain etiologies (P = 0.019) or epileptiform discharges on EEG (P = 0.032). Most seizures were controlled without anticonvulsants (n = 12) or with a single anticonvulsant (n = 12). Among patients with HIV infection, seizures are significantly more prevalent than in the general population. Most seizures, with the exception of status epilepticus, have a benign clinical course and few complications.

  1. Epidemiological and clinical characteristics of community-acquired severe sepsis and septic shock: a prospective observational study in 12 university hospitals in Korea.

    PubMed

    Park, Dae Won; Chun, Byung Chul; Kim, June Myung; Sohn, Jang Wook; Peck, Kyong Ran; Kim, Yang Soo; Choi, Young Hwa; Choi, Jun Yong; Kim, Sang Il; Eom, Joong Sik; Kim, Hyo Youl; Song, Joon Young; Song, Young Goo; Choi, Hee Jung; Kim, Min Ja

    2012-11-01

    A prospective multicenter observational study was performed to investigate the epidemiology and outcomes of community-acquired severe sepsis and septic shock. Subjects included 1,192 adult patients admitted to the 22 participating intensive care units (ICUs) of 12 university hospitals in the Korean Sepsis Registry System from April, 2005 through February, 2009. Male accounted for 656 (55%) patients. Mean age was 65.0 ± 14.2 yr. Septic shock developed in 740 (62.1%) patients. Bacteremia was present in 422 (35.4%) patients. The 28-day and in-hospital mortality rates were 23.0% and 28.0%, respectively. Men were more likely to have comorbid illnesses and acute organ dysfunctions, and had higher mortality and clinical severity compared to women. While respiratory sources of sepsis were common in men, urinary sources were predominant in women. In the multivariate logistic regression analysis, cancer (odds ratio 1.89; 95% confidence interval 1.13-3.17), urinary tract infection (0.25; 0.13-0.46), APACHE II score (1.05; 1.02-1.09), SOFA score on day 1 (1.13; 1.06-1.21) and metabolic dysfunction (2.24, 1.45-3.45) were independent clinical factors for gender-related in-hospital mortality. This study provided epidemiological and clinical characteristics of community-acquired severe sepsis and septic shock in ICUs in Korea, and demonstrated the impact of clinical factors on gender difference in mortality.

  2. 78 FR 66785 - Korea Hydro and Nuclear Power Co., Ltd., and Korea Electric Power Corporation

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-11-06

    ... APR1400 Standard Plant Design submitted by Korea Hydro and Nuclear Power Co., Ltd. (KHNP) and Korea... application for standard design certification of the APR1400 Standard Plant Design. The APR1400 stands for... advanced design features to enhance plant safety, economical efficiency, and convenience of operation...

  3. 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.

  4. Clinical and psychological characteristics of propofol abusers in Korea: a survey of propofol abuse in 38, non-healthcare professionals

    PubMed Central

    Kim, Eun-Jung; Kim, Seon-Hwa; Hyun, Yang-Jin; Noh, Yeon-Keun; Jung, Ho-Sang; Han, Soon-Young; Park, Chan-hye; Choi, Byung Moon

    2015-01-01

    Background The aim of this study is to investigate the characteristics of propofol abuse based on the results of a survey analysis of abusers among non-healthcare professionals in Korea. Methods Thirty-eight propofol abusers were questioned between October and December 2010, and were enrolled and voluntarily participated in a structured survey consisting of an interview and completing a previously prepared questionnaire. The questionnaire was divided into three distinct parts: part 1 dealt with the history of propofol abuse; part 2 highlighted the problems caused by propofol abuse; and part 3 enquired regarding demographics of abusers. Results Thirty-one (81.6%) of the 38 interviewees abused propofol for more than one year. During the last 12 months, 34 (89.0%) received propofol at two or three times a week. The minimum and maximum amounts of propofol (median, range) administered each time were 500 (100, 1000) and 2000 (500, 4000) mg, respectively. Stress relief and the maintenance of a sense of well-being were quoted the most important reasons for the first-time administration of propofol and its subsequent abuse, respectively. The majority of abusers (36.0, 97.3%) reported a sense of pleasure or euphoria at the time of their propofol injection. Withdrawal symptoms occurred in five abusers (13.2%). Thirteen (36.1%) reported disruptions in their work life. None of the respondents had previously admitted to and or reported abuse of any other controlled substances. Conclusions These results provided reference data for the regulation of propofol in Korea as a controlled substance and may also be of interest to international agencies in other countries. PMID:26634083

  5. Clinical features of psoriatic arthritis in Korean patients with psoriasis: a cross-sectional observational study of 196 patients with psoriasis using psoriatic arthritis screening questionnaires.

    PubMed

    Shin, Dongyun; Kim, Hee Joo; Kim, Dae Suk; Kim, Soo Min; Park, Jin Su; Park, Yong-Beom; Lee, Min-Geol

    2016-02-01

    The prevalence and clinical features of psoriatic arthritis (PsA) in psoriasis patients vary widely in different countries, and studies on Korean population are rarely reported. The aim of this study was to investigate the clinical features of PsA in a Korean population of patients with psoriasis by using psoriatic arthritis screening questionnaires. A cross-sectional observational study was conducted, and consecutive psoriatic patients were evaluated for PsA by using two kinds of psoriatic arthritis screening questionnaires: Psoriatic Arthritis Screening and Evaluation tool (PASE) and Psoriasis Epidemiology Screening Tool (PEST). Psoriatic patients with higher score in screening questionnaires were referred to rheumatologist for confirmative diagnosis of PsA. Among 196 psoriasis patients screened by PASE and PEST, total prevalence of PsA was 11.2 % (n = 22/196) with 59.1 % of the cases being newly diagnosed. Compared with patients without PsA, patients with PsA had more extensive psoriasis, higher frequency of pustular and inverse type of psoriasis, and lower frequency of plaque type of psoriasis. Spondylitis was the most common manifestation pattern, followed by polyarthritis, oligoarthritis, predominant distal interphalangeal arthritis, and arthritis mutilans. Our findings are consistent with a low prevalence of PsA among patients with psoriasis in Asia. We also confirm a spondylitis as the most common pattern of PsA in Korea. PsA screening questionnaires can be a simple and useful tool to screen PsA in patients with psoriasis.

  6. Clinical and epidemiological factors associated with methicillin resistance in community-onset invasive Staphylococcus aureus infections: prospective multicenter cross-sectional study in Korea.

    PubMed

    Kim, Eu Suk; Kim, Hong Bin; Kim, Gayeon; Kim, Kye-Hyung; Park, Kyung-Hwa; Lee, Shinwon; Choi, Young Hwa; Yi, Jongyoun; Kim, Chung Jong; Song, Kyoung-Ho; Choe, Pyoeng Gyun; Kim, Nam-Joong; Lee, Yeong-Seon; Oh, Myoung-Don

    2014-01-01

    Successful empirical therapy of Staphylococcus aureus infections requires the ability to predict methicillin resistance. Our aim was to identify predictors of methicillin resistance in community-onset (CO) invasive S. aureus infections. Sixteen hospitals across Korea participated in this study from May to December 2012. We prospectively included cases of S. aureus infection in which S. aureus was isolated from sterile clinical specimens ≤ 72 hours after hospitalization. Clinical and epidemiological data were gathered and compared in methicillin-resistant S. aureus (MRSA) and methicillin-susceptible S. aureus (MSSA) cases. Community-associated (CA) infections were defined as in previous studies. In total, there were 786 cases of community-onset S. aureus infection, 102 (13.0%) of which were CA-MRSA. In addition to known risk factors, exposure to 3rd generation cephalosporins in the past 6 months [odds ratio (OR), 1.922; 95% confidence interval (CI), 1.176-3.142] and close contact with chronically ill patients in the past month (OR, 2.647; 95% CI, 1.189-5.891) were independent risk factors for MRSA infection. However, no clinical predictors of CA-MRSA were identified. Methicillin resistance, CO infection, and appropriateness of empirical antibiotics were not significantly related to 30-day mortality. MRSA infection should be suspected in patients recently exposed to 3rd generation cephalosporins or chronically-ill patients. There were no reliable predictors of CA-MRSA infection, and mortality was not affected by methicillin resistance.

  7. Dimensional approach to symptom factors of major depressive disorder in Koreans, using the Brief Psychiatric Rating Scale: the Clinical Research Center for Depression of South Korea study.

    PubMed

    Park, Seon-Cheol; Jang, Eun Young; Kim, Daeho; Jun, Tae-Youn; Lee, Min-Soo; Kim, Jae-Min; Kim, Jung-Bum; Jo, Sun-Jin; Park, Yong Chon

    2015-01-01

    Although major depressive disorder (MDD) has a variety of symptoms beyond the affective dimensions, the factor structure and contents of comprehensive psychiatric symptoms of this disorder have rarely been explored using the 18-item Brief Psychiatric Rating Scale (BPRS). We aimed to identify the factor structure of the 18-item BPRS in Korean MDD patients. A total of 258 MDD patients were recruited from a multicenter sample of the Clinical Research Center for Depression of South Korea study. Psychometric scales were used to assess overall psychiatric symptoms (BPRS), depression (Hamilton Depression Rating Scale), anxiety (Hamilton Anxiety Rating Scale), global severity (Clinical Global Impression of Severity Scale), suicidal ideation (Scale for Suicide Ideation), functioning (Social and Occupational Functioning Assessment Scale), and quality of life (World Health Organization Quality of Life Assessment-abbreviated version). Common factor analysis with oblique rotation was used to yield factor structure. A four-factor structure was designed and interpreted by the symptom dimensions to reflect mood disturbance, positive symptoms/apathy, bipolarity, and thought distortion/mannerism. These individual factors were also significantly correlated with clinical variables. The findings of this study support the view that the BPRS may be a promising measuring tool for the initial assessment of MDD patients. In addition, the four-factor structure of the BPRS may be useful in understanding the mood and psychotic characteristics of these patients.

  8. 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.

  9. Relational Network for Knowledge Discovery through Heterogeneous Biomedical and Clinical Features

    PubMed Central

    Chen, Huaidong; Chen, Wei; Liu, Chenglin; Zhang, Le; Su, Jing; Zhou, Xiaobo

    2016-01-01

    Biomedical big data, as a whole, covers numerous features, while each dataset specifically delineates part of them. “Full feature spectrum” knowledge discovery across heterogeneous data sources remains a major challenge. We developed a method called bootstrapping for unified feature association measurement (BUFAM) for pairwise association analysis, and relational dependency network (RDN) modeling for global module detection on features across breast cancer cohorts. Discovered knowledge was cross-validated using data from Wake Forest Baptist Medical Center’s electronic medical records and annotated with BioCarta signaling signatures. The clinical potential of the discovered modules was exhibited by stratifying patients for drug responses. A series of discovered associations provided new insights into breast cancer, such as the effects of patient’s cultural background on preferences for surgical procedure. We also discovered two groups of highly associated features, the HER2 and the ER modules, each of which described how phenotypes were associated with molecular signatures, diagnostic features, and clinical decisions. The discovered “ER module”, which was dominated by cancer immunity, was used as an example for patient stratification and prediction of drug responses to tamoxifen and chemotherapy. BUFAM-derived RDN modeling demonstrated unique ability to discover clinically meaningful and actionable knowledge across highly heterogeneous biomedical big data sets. PMID:27427091

  10. Identifying potential clinical syndromes of hepatocellular carcinoma using PSO-based hierarchical feature selection algorithm.

    PubMed

    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.

  11. Relational Network for Knowledge Discovery through Heterogeneous Biomedical and Clinical Features

    NASA Astrophysics Data System (ADS)

    Chen, Huaidong; Chen, Wei; Liu, Chenglin; Zhang, Le; Su, Jing; Zhou, Xiaobo

    2016-07-01

    Biomedical big data, as a whole, covers numerous features, while each dataset specifically delineates part of them. “Full feature spectrum” knowledge discovery across heterogeneous data sources remains a major challenge. We developed a method called bootstrapping for unified feature association measurement (BUFAM) for pairwise association analysis, and relational dependency network (RDN) modeling for global module detection on features across breast cancer cohorts. Discovered knowledge was cross-validated using data from Wake Forest Baptist Medical Center’s electronic medical records and annotated with BioCarta signaling signatures. The clinical potential of the discovered modules was exhibited by stratifying patients for drug responses. A series of discovered associations provided new insights into breast cancer, such as the effects of patient’s cultural background on preferences for surgical procedure. We also discovered two groups of highly associated features, the HER2 and the ER modules, each of which described how phenotypes were associated with molecular signatures, diagnostic features, and clinical decisions. The discovered “ER module”, which was dominated by cancer immunity, was used as an example for patient stratification and prediction of drug responses to tamoxifen and chemotherapy. BUFAM-derived RDN modeling demonstrated unique ability to discover clinically meaningful and actionable knowledge across highly heterogeneous biomedical big data sets.

  12. [Clinical features in fatal Spanish influenza: Japanese Army Hospital medical records investigation].

    PubMed

    Fujikura, Yuji; Kawana, Akihiko; Kato, Yasuyuki; Mizuno, Yasutaka; Kudo, Koichiro

    2010-03-01

    Pandemic influenza preparedness requires a thorough knowledge of past pandemics. Tokyo First Army Hospital medical records from January 1918 to December 1920 found recently included 132 consecutive records of those diagnosed with influenza. We report on the clinical features in 8 fatal cases. Inpatient mortality was found to be 6.1% (8/132). Cough was noted in 6 (75%) and thoracic rales in 8 (100%) on admission, mimicking pneumonia. Bloody sputum was noted in 5 (62.5%) and diarrhea in 4 (50%), with marked hemorrhagic and digestive symptoms, resembling highly pathogenic avian influenza. Clinical features may differ from seasonal influenza, making early detection and treatment essential especially in severe cases.

  13. Intraductal papillary mucinous neoplasms of the pancreas: reporting clinically relevant features.

    PubMed

    Del Chiaro, Marco; Verbeke, Caroline

    2016-11-22

    Intraductal papillary mucinous neoplasms (IPMNs) of the pancreas can exhibit a wide spectrum of macroscopic and microscopic appearances. This not only causes occasional difficulties for the reporting pathologist in distinguishing these tumours from other lesions, but is also relevant clinically. As evidence accumulates, it becomes clear that multiple macroscopic and histological features of these neoplasms are relevant to the risk for malignant transformation and, consequently, of prime importance for clinical patient management. The need for detailed reporting is therefore increasing. This review discusses the panoply of gross and microscopic features of IPMN as well as the recommendations from recent consensus meetings regarding the pathology reporting on this tumour entity.

  14. Genital chlamydial infection: association between clinical features, organism genotype and load.

    PubMed

    Jalal, Hamid; Verlander, Neville Q; Kumar, Navin; Bentley, Neil; Carne, Christopher; Sonnex, Christopher

    2011-07-01

    The association between the clinical features of genital chlamydial infection and organism genotype and load was evaluated. Chlamydial DNA was detected and quantified in genital swabs from 233 (7 %) of 3384 consecutive patients attending a genitourinary medicine clinic. The chlamydia-positive subcohort comprised 132 (57 %) females and 101 (43 %) males. Clinical features were present in 33 % women and 72 % men. The chlamydial load was found to be higher in women (median load: 5.6 log) than men (median load: 3.5 log). Single variable analysis failed to show a significant association between chlamydial load and clinical features (P value = 0.3). Owing to the limited amount of clinical material, information on chlamydial genotypes was available for 70 % (n = 162) of chlamydia-positive patients. However, multivariable analysis of these samples did show a significant association between chlamydial load and clinical features (P value = 0.02). This discrepancy is most probably due to the difference in the amount of data analysed by single variable (data from 233 patients) and multivariable (data from 162 patients) analysis. The distribution of chlamydia genotypes was as follows: type E (46 %), F (22 %), D (8 %), K (8 %), G (7 %), J (4 %), I (1 %) and H (0.6 %). No statistically significant association was observed between chlamydial genotype and clinical features in either single variable (P value = 0.6) or multivariable (P value = 0.4) analysis. These findings suggest that chlamydial load and diversity in the ompA gene plays little, if any, role in the pathogenesis of genital chlamydial infection.

  15. [Enlarged vestibular aqueduct syndrome: etiology, clinical features, diagnostics, and rehabilitation of the patients].

    PubMed

    Zelikovich, E I; Tropchina, L V; Kurilenkov, G V

    2015-01-01

    This publication was designed to describe the clinical manifestations of the enlarged vestibular aqueduct syndrome (EVAS), the currently employed methods for its diagnostics, and the strategy for the rehabilitation of the patients presenting with this pathological condition. In addition, the article provides information about the topographic anatomy and X-ray anatomy of the vestibular aqueduct, the specific clinical features of EVAS, the modern algorithm of its diagnostics, and the facilities for hearing rehabilitation in this group of patients.

  16. Melancholic features in inpatients with major depressive disorder associate with differential clinical characteristics and treatment outcomes.

    PubMed

    Lin, Ching-Hua; Huang, Chun-Jen; Liu, Shi-Kai

    2016-04-30

    To determine whether the presence of melancholic features in hospitalized patients with major depressive disorder (MDD) was associated with specific clinical characteristics and treatment outcomes, supporting melancholic depression as a distinct subtype within MDD. 126 acutely ill inpatients with MDD were enrolled in an open, 6-week trial with fixed-dose fluoxetine 20mg daily. Symptom severity was assessed regularly, using the 17-item Hamilton Depression Rating Scale (HAMD-17) and Clinical Global Impression of Severity (CGI-S). Melancholic features were defined according to the DSM-IV criteria. Clinical variables were compared between patients with and without melancholic features. Generalized estimating equations method was used to explore the differences in HAMD-17 and CGI-S scores between the 2 groups over time. Clinical response was defined as having a 50% or greater reduction in HAMD-17 scores. 96 (76.2%) of the 126 patients with at least one post-baseline assessment met the criteria for melancholic depression. Melancholic depression differed from non-melancholic depression in clinical characteristics and predicted a better response to fluoxetine treatment. The differentiation between melancholic and non-melancholic depression within MDD hence is clinically significant and valid.

  17. Clinical features of early onset, familial Alzheimer`s disease linked to chromosome 14

    SciTech Connect

    Mullan, M.; Bennett, C.; Figueredo, C.; Crawford, F.

    1995-02-27

    Early onset familial Alzheimer`s disease (AD) has an autosomal dominant mode of inheritance. Two genes are responsible for the majority of cases of this subtype of AD. Mutations in the {beta}-amyloid precursor protein ({beta}APP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with {beta}APP mutations at the codon 717 locus in an attempt to define the phenotype associated with a valine to isoleucine (Val {r_arrow} Ile) or a valine to glycine (Val {r_arrow} Gly) change. More recently, a second locus for very early onset disease has been localized to chromosome 14. The results of linkage studies in some families suggesting linkage to both chromosomes have been explained by the suggestion of a second (centromeric) locus on chromosome 21. Here we report the clinical features and genetic analysis of a British pedigree (F74) with early onset AD in which neither the {beta}APP locus nor any other chromosome 21 locus segregates with the disease, but in which good evidence is seen for linkage on the long arm of chromosome 14. In particular we report marker data suggesting that the chromosome 14 disease locus is close to D14S43 and D14S77. Given the likelihood that F74 represents a chromosome 14 linked family, we describe the clinical features and make a limited clinical comparison with the {beta}APP717 Val {r_arrow} Ile and {beta}APP717 Val {r_arrow} Gly encoded families that have been previously described. We conclude that although several previously reported clinical features occur to excess in early onset familial AD, no single clinical feature demarcates either the chromosome 14 or {beta}APP codon 717 mutated families except mean age of onset. 52 refs., 2 figs., 5 tabs.

  18. Validation study of tripartite model of anxiety and depression in children and adolescents: clinical sample in Korea.

    PubMed

    Yang, Jae-Won; Hong, Sungdo D; Joung, Yoo Sook; Kim, Ji-Hae

    2006-12-01

    Although the currently available literature has provided some empirical support for a tripartite model of child and adolescent anxiety and depression, one of the limitations of these studies was that they have been conducted in America, primarily with Caucasians. In order to make this model more applicable to diverse ethnic and cultural groups, this study used a tripartite model for child and adolescent anxiety and depression in Korea, using confirmatory factor analysis with logically selected items from the Revised Children's Manifest Anxiety Scale (RCMAS), as well as the Children's Depression Inventory (CDI). The results indicated that the model fit of a three-factor model was superior to one- and two-factor models. In addition, the findings of discriminant analysis demonstrated that the correct classification rate with three factors of the tripartite model was superior to the classification rate achievable using CDI and RCMAS. In a departure from Clark and Watson's hypothesis, however, the correlations of three factors were significantly higher than had been expected. The results are discussed on the basis of cultural background.

  19. Validation Study of Tripartite Model of Anxiety and Depression in Children and Adolescents: Clinical Sample in Korea

    PubMed Central

    Yang, Jae-Won; Hong, Sungdo D.; Joung, Yoo Sook

    2006-01-01

    Although the currently available literature has provided some empirical support for a tripartite model of child and adolescent anxiety and depression, one of the limitations of these studies was that they have been conducted in America, primarily with Caucasians. In order to make this model more applicable to diverse ethnic and cultural groups, this study used a tripartite model for child and adolescent anxiety and depression in Korea, using confirmatory factor analysis with logically selected items from the Revised Children's Manifest Anxiety Scale (RCMAS), as well as the Children's Depression Inventory (CDI). The results indicated that the model fit of a three-factor model was superior to one- and two-factor models. In addition, the findings of discriminant analysis demonstrated that the correct classification rate with three factors of the tripartite model was superior to the classification rate achievable using CDI and RCMAS. In a departure from Clark and Watson's hypothesis, however, the correlations of three factors were significantly higher than had been expected. The results are discussed on the basis of cultural background. PMID:17179694

  20. Non-convulsive status epilepticus: usefulness of clinical features in selecting patients for urgent EEG

    PubMed Central

    Husain, A; Horn, G; Jacobson, M

    2003-01-01

    Background: Non-convulsive status epilepticus (NCSE) is status epilepticus without obvious tonic–clonic activity. Patients with NCSE have altered mental state. An EEG is needed to confirm the diagnosis, but obtaining an EEG on every patient with altered mental state is not practical. Objective: To determine whether clinical features could be used to predict which patients were more likely to be in NCSE and thus in need of an urgent EEG. Methods: Over a six month period, all patients for whom an urgent EEG was ordered to identify NCSE were enrolled. Neurology residents examined the patients and filled out a questionnaire without knowledge of the EEG results. The patients were divided into two groups, NCSE and non-NCSE, depending on the EEG result. The clinical features were compared between the two groups. The sensitivity and specificity of the features were calculated. Results: 48 patients were enrolled, 12 in NCSE and 36 not in NCSE. Remote risk factors for seizures, severely impaired mental state, and ocular movement abnormalities were seen significantly more often in the NCSE group. The combined sensitivity of remote risk factors for seizures and ocular movement abnormalities was 100%. Conclusions: There are certain clinical features that are more likely to be present in patients in NCSE compared with other types of encephalopathy. Either remote risk factors for seizures or ocular movement abnormalities were seen in all patients in NCSE. These features may be used to select which patients should have an urgent EEG. PMID:12531946

  1. Clinical, electrophysiological and brain imaging features during recurrent ictal cortical blindness associated with chronic liver failure.

    PubMed

    van Pesch, V; Hernalsteen, D; van Rijckevorsel, K; Duprez, Th; Boschi, A; Ivanoiu, A; Sindic, C J M

    2006-12-01

    Transient neuroimaging features indicating primary cortical and secondary subcortical white matter cytotoxic oedema have been described in association with prolonged or intense seizures. We describe the unusual condition of recurrent ictal cortical blindness due to focal occipital status epilepticus, in the context of chronic hepatic failure. There was a close association between the onset and disappearance of clinical, electrophysiological and magnetic resonance imaging abnormalities.

  2. Clinical and Imaging Features of a Congenital Midline Cervical Cleft in a Neonate: A Rare Anomaly

    PubMed Central

    Bawa, Pritish; Ibrahim, Zachary; Amodio, John

    2015-01-01

    Congenital midline cervical cleft (CMCC) is a rare congenital anomaly. CMCC and its complications and treatment have been well described in ENT, dermatology, and pediatric surgery literature. However, to our knowledge, the imaging work-up has not been reported in the literature thus far. We present a case of CMCC in a neonate with description of clinical presentation and imaging features. PMID:26078904

  3. Synergistic combination of clinical and imaging features predicts abnormal imaging patterns of pulmonary infections

    PubMed Central

    Bagci, Ulas; Jaster-Miller, Kirsten; Olivier, Kenneth N.; Yao, Jianhua; Mollura, Daniel J.

    2013-01-01

    We designed and tested a novel hybrid statistical model that accepts radiologic image features and clinical variables, and integrates this information in order to automatically predict abnormalities in chest computed-tomography (CT) scans and identify potentially important infectious disease biomarkers. In 200 patients, 160 with various pulmonary infections and 40 healthy controls, we extracted 34 clinical variables from laboratory tests and 25 textural features from CT images. From the CT scans, pleural effusion (PE), linear opacity (or thickening) (LT), tree-in-bud (TIB), pulmonary nodules, ground glass opacity (GGO), and consolidation abnormality patterns were analyzed and predicted through clinical, textural (imaging), or combined attributes. The presence and severity of each abnormality pattern was validated by visual analysis of the CT scans. The proposed biomarker identification system included two important steps: (i) a coarse identification of an abnormal imaging pattern by adaptively selected features (AmRMR), and (ii) a fine selection of the most important features from the previous step, and assigning them as biomarkers, depending on the prediction accuracy. Selected biomarkers were used to classify normal and abnormal patterns by using a boosted decision tree (BDT) classifier. For all abnormal imaging patterns, an average prediction accuracy of 76.15% was obtained. Experimental results demonstrated that our proposed biomarker identification approach is promising and may advance the data processing in clinical pulmonary infection research and diagnostic techniques. PMID:23930819

  4. Prevalence, microbiology, and clinical characteristics of extended-spectrum beta-lactamase-producing Enterobacter spp., Serratia marcescens, Citrobacter freundii, and Morganella morganii in Korea.

    PubMed

    Choi, S-H; Lee, J E; Park, S J; Kim, M-N; Choo, E J; Kwak, Y G; Jeong, J-Y; Woo, J H; Kim, N J; Kim, Y S

    2007-08-01

    We examined the prevalence and characteristics of extended-spectrum beta-lactamase (ESBL)-producing clinical isolates among Enterobacter spp., Serratia marcescens, Citrobacter freundii, and Morganella morganii, and evaluated screening criteria, clinical characteristics and outcomes of infections caused by ESBL-producing organisms. Between January and June 2005, a total of 493 nonduplicate consecutive isolates were collected at Asan Medical Center, a 2,300-bed tertiary hospital in Seoul, Republic of Korea. Fifty isolates (10.1%) were positive for phenotypical ESBL-test. The positive rate of phenotypical ESBL-test in Enterobacter spp., S. marcescens, C. freundii, and M. morganii was 12.8%, 12.4%, 4.9%, and 0% respectively. SHV-12 (18 isolates), CTX-M-9 (17 isolates), and TEM-52 (five isolates) were the most prevalent ESBL types. The ESBL in 17 strains could not be identified. As an ESBL screening criterion, the cefepime MIC >or=1 microg/ml had the highest sensitivity (0.84) and specificity (0.87). Half of the ESBL-producing isolates (25/50) were judged as pathogens. Cholangitis (ten cases), and pneumonia (six cases) were the most common infections. The overall mortality was 12.0%.

  5. Clinical Outcome of Acute Epidural Hematoma in Korea: Preliminary Report of 285 Cases Registered in the Korean Trauma Data Bank System

    PubMed Central

    Jeong, Young Ha; Oh, Ji Woong

    2016-01-01

    Objective The aim of this preliminary collaborative study was to assess the clinical characteristics, management, and outcome of epidural hematoma (EDH) based on the data collected and registered in the Korean Trauma Data Bank System (KTDBS). Methods Of 2,698 patients registered in the KTDBS between September 2010 and March 2014, 285 patients with EDH were analyzed. Twenty-three trauma centers participated in the study voluntarily to collect data. We subcategorized the patients into two groups with good and poor outcomes. Various clinical characteristics and the time intervals with regard to treatment course were investigated to determine the relationship between these parameters and the functional outcome. Results Of multiple parameters for this analysis, older age (p=0.0003), higher degree of brain injury (p<0.0001), cases of surgical EDH (p<0.0001), time interval from trauma to hospital before 6 hours, and the decreasing pattern of Glasgow Coma Scale (GCS) between and initial and final GCS were strongly associated with poor outcome. Use of prophylactic anticonvulsant did not affect the functional outcome. There was an interesting difference in the use of mannitol in treating EDH between the urban and rural regions (p<0.0001). Conclusion This is the first multi-center analysis of etiology of injury, pre-hospital care, treatment, and functional outcome of EDH in Korea. The degree of brain injury and the GCS difference were notable factors that were significant in determining the functional outcome of EDH. PMID:27857907

  6. Primary dystonias and genetic disorders with dystonia as clinical feature of the disease.

    PubMed

    Moghimi, Narges; Jabbari, Bahman; Szekely, Anna M

    2014-01-01

    Dystonia is probably the most common form of movement disorder encountered in the clinical practice. It is characterized by sustained muscle contractions, usually producing twisting and repetitive movements or abnormal postures or positions. Dystonias can be classified in several ways, including primarily by the clinical phenomenology or by the underlining etiology, in particular to understand if the presentation is genetically determined. By advances of genetics, including contemporary genomic technologies, there is a growing understanding of the molecular underpinnings of genetically determined dystonias. The intricacy of information requires a user friendly, novel database that may efficiently serve clinicians to inform of advances of the field and to diagnose and manage these often complex cases. Here we present an up to date, comprehensive review - in tabulated formats - of genetically determined primary dystonias and complex Mendelian disorders with dystonia as central feature. The detailed search up to December 24, 2012, identified 24 hereditary primary dystonias (DYT1 to DYT 25) that are mostly monogenic disorders, and a larger group (>70) of genetic syndromes in which dystonia is one of the characteristic clinical features. We organized the findings not only by individual information (name of the conditions, pattern of inheritance, chromosome and gene abnormality, clinical features, relevant ancillary tests and key references), but also provide symptom-oriented organization of the clinical entities for efficient inquiries.

  7. Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes.

    PubMed

    Crosiers, David; Theuns, Jessie; Cras, Patrick; Van Broeckhoven, Christine

    2011-10-01

    In the past 15 years, insights in clinical and genetic characteristics of Parkinson disease (PD) have increased substantially. Sequence or copy number variants in at least six genes (SNCA, LRRK2, PARK2, PINK1, DJ-1 and ATP13A2) have been identified to cause monogenic forms of PD. Routine clinical testing for mutations in these genes is feasible and available, but overlapping phenotypes in monogenic and sporadic PD complicate straightforward diagnostic screening. Primarily, a positive familial history and an early onset age should prompt clinicians to consider genetic testing. Based on a literature review on clinical and neuropathological features of PD patients carrying a pathogenic mutation we propose guidelines for genetic diagnostic testing in clinical practice. However, the absence of disease-modifying therapies and the variable penetrance of most known mutations currently limit the usefulness of genetic diagnostic testing for PD in clinical practice.

  8. Clinical features of two cases of Legionnaires' disease with persistence of Legionella urinary antigen excretion.

    PubMed

    Higa, Futoshi; Fujita, Jiro; Koide, Michio; Haranaga, Shusaku; Tateyama, Masao

    2008-01-01

    The advantages of diagnosing legionellosis by urinary antigen detection are widely recognized, and include early detection, rapidity of testing, and ease of specimen collection. However, the persistence of Legionella urinary antigen excretion has been suggested in some selected patients, although the clinical features of these patients have not yet been clearly described. Here, we describe the clinical features of two patients with Legionnaires' disease with persistence of Legionella urinary antigen excretion (117 days and 247 days). One patient had an underlying disease, adult T-cell leukemia, and the other patient had ulcerative colitis and was receiving oral corticosteroids. Unusual clinical and radiological findings as well as a review of the literature are presented.

  9. 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

  10. Association of norB overexpression and fluoroquinolone resistance in clinical isolates of Staphylococcus aureus from Korea

    PubMed Central

    Kwak, Yee Gyung; Truong-Bolduc, Que Chi; Bin Kim, Hong; Song, Kyoung-Ho; Kim, Eu Suk; Hooper, David C.

    2013-01-01

    Objectives Although the prevalence of fluoroquinolone resistance among methicillin-resistant Staphylococcus aureus (MRSA) is known to be higher than in methicillin-susceptible S. aureus (MSSA), the reasons have never been identified. Methods We randomly selected 115 isolates of S. aureus collected from 10 different hospitals in Korea between June 2009 and May 2011. To investigate the difference in fluoroquinolone resistance mechanisms between MRSA and MSSA, we evaluated gyrA and parC mutations and the relative expression of the multidrug efflux pump genes norA, norB and norC. Results All 62 ciprofloxacin-resistant S. aureus had either gyrA or parC mutations. The S84L mutation of gyrA (59/62, 95.2%) and the S80F mutation of parC (61/62, 98.4%) were the most common. Fifty-eight (93.6%) strains had both the S84L mutation of gyrA and the S80F mutation of parC. Among the 115 isolates, norB overexpression was the most common, occurring in 49 (42.6%) strains. There were only two (1.7%) strains with norA overexpression and none with norC overexpression. Strains overexpressing norB were more common among ciprofloxacin-resistant S. aureus (33/62, 53.2%) than ciprofloxacin-susceptible S. aureus (16/53, 30.2%) (P = 0.013). When we analysed 62 ciprofloxacin-resistant S. aureus strains, those overexpressing norB were more common in ciprofloxacin-resistant MRSA (28/46, 60.9%) than in ciprofloxacin-resistant MSSA (5/16, 31.3%) (P = 0.041). Conclusions Increased expression of norB can be a factor that contributes to ciprofloxacin resistance in MRSA strains. PMID:23928023

  11. Clinical Features of 78 Adults With 22q11 Deletion Syndrome

    PubMed Central

    Bassett, Anne S.; Chow, Eva W.C.; Husted, Janice; Weksberg, Rosanna; Caluseriu, Oana; Webb, Gary D.; Gatzoulis, Michael A.

    2011-01-01

    22q11 Deletion Syndrome (22q11DS) is a common microdeletion syndrome with multisystem expression. Phenotypic features vary with age, ascertainment, and assessment. We systematically assessed 78 adults (36 M, 42 F; mean age 31.5, SD 10.5 years) with a 22q11.2 deletion ascertained through an adult congenital cardiac clinic (n = 35), psychiatric-related sources (n = 39), or as affected parents of subjects (n = 4). We recorded the lifetime prevalence of features requiring attention, with 95% confidence intervals (CI) not overlapping zero. Subtle learning difficulties, hypernasality and facial gestalt were not included. We investigated ascertainment effects using non-overlapping subgroups ascertained with tetralogy of Fallot (n = 31) or schizophrenia (n = 31). Forty-three features met inclusion criteria and were present in 5% or more patients, including several of later onset (e.g., hypothyroidism, cholelithiasis). Number of features per patient (median 9, range 3–22) correlated with hospitalizations (P=0.0002) and, when congenital features were excluded, with age (P=0.02). Adjusting for ascertainment, 25.8% (95% CI, 9.5–42.1%) of patients had cardiac anomalies and 22.6% (95% CI, 7.0–38.2%) had schizophrenia. Ascertainment subgroups were otherwise similar in median number and prevalence of features. Non-characteristic features are common in 22q11DS. Adjusting for ascertainment effects is important. Many treatable conditions may be anticipated and features may accumulate over time. The results have implications for clinical assessment and management, genetic counseling and research into pathophysiological mechanisms. PMID:16208694

  12. Clinical features of MELAS and its relation with A3243G gene point mutation.

    PubMed

    Zhang, Jin; Guo, Junhong; Fang, Wanghui; Jun, Qili; Shi, Kaili

    2015-01-01

    Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) mostly occur in children. The point mutation A3243G of mitochondrial DNA (mtDNA) may work as a specific bio-marker for mitochondrial disorders. The related clinical features, however, may vary among individuals. This study therefore investigated the relation between MELAS clinical features and point mutation A3243G of mtDNA, in an attempt to provide further evidences for genetic diagnosis of MELAS. Children with MELAS-like syndromes were tested for both blood lactate level and point mutation A3243G of mtDNA. Further family study was performed by mtDNA mutation screening at the same loci for those who had positive gene mutation at A3243G loci. Those who were negative for A3243G point mutation were examined by muscle biopsy and genetic screening. Both clinical and genetic features were analyzed. In all 40 cases with positive A3243G mutation, 36 children fitted clinical diagnosis of MELAS. In other 484 cases with negative mutation, only 8 children were clinically diagnosed with MELAS. Blood lactate levels in both groups were all elevated (P>0.05). In a further genetic screening of 28 families, 10 biological mothers and 8 siblings of MELAS children had positive A3243G point mutations but without any clinical symptoms. Certain difference existed in the clinical manifestations between children who were positive and negative for A3243G mutation of mtDNA but without statistical significance. MELAS showed maternal inheritance under most circumstances.

  13. Clinical features of MELAS and its relation with A3243G gene point mutation

    PubMed Central

    Zhang, Jin; Guo, Junhong; Fang, Wanghui; Jun, Qili; Shi, Kaili

    2015-01-01

    Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) mostly occur in children. The point mutation A3243G of mitochondrial DNA (mtDNA) may work as a specific bio-marker for mitochondrial disorders. The related clinical features, however, may vary among individuals. This study therefore investigated the relation between MELAS clinical features and point mutation A3243G of mtDNA, in an attempt to provide further evidences for genetic diagnosis of MELAS. Children with MELAS-like syndromes were tested for both blood lactate level and point mutation A3243G of mtDNA. Further family study was performed by mtDNA mutation screening at the same loci for those who had positive gene mutation at A3243G loci. Those who were negative for A3243G point mutation were examined by muscle biopsy and genetic screening. Both clinical and genetic features were analyzed. In all 40 cases with positive A3243G mutation, 36 children fitted clinical diagnosis of MELAS. In other 484 cases with negative mutation, only 8 children were clinically diagnosed with MELAS. Blood lactate levels in both groups were all elevated (P>0.05). In a further genetic screening of 28 families, 10 biological mothers and 8 silbings of MELAS children had positive A3243G point mutations but without any clinical symptoms. Certain difference existed in the clinical manifestations between children who were positive and negative for A3243G mutation of mtDNA but without statistical significance. MELAS showed maternal inheritance under most circumstances. PMID:26722549

  14. Clinical Features, Etiology, and Outcomes of Community-Acquired Pneumonia in Patients With Diabetes Mellitus

    PubMed Central

    Di Yacovo, Silvana; Garcia-Vidal, Carolina; Viasus, Diego; Adamuz, Jordi; Oriol, Isabel; Gili, Francesca; Vilarrasa, Núria; García-Somoza, M. Dolors; Dorca, Jordi; Carratalà, Jordi

    2013-01-01

    Abstract We performed an observational analysis of a prospective cohort of immunocompetent hospitalized adults with community-acquired pneumonia (CAP) to determine the epidemiology, clinical features, and outcomes of pneumonia in patients with diabetes mellitus (DM). We also analyzed the risk factors for mortality and the impact of statins and other cardiovascular drugs on outcomes. Of 2407 CAP episodes, 516 (21.4%) occurred in patients with DM; 483 (97%) had type 2 diabetes, 197 (40%) were on insulin treatment, and 119 (23.9%) had end-organ damage related to DM. Patients with DM had different clinical features compared to the other patients. They were less likely to have acute onset, cough, purulent sputum, and pleural chest pain. No differences in etiology were found between study groups. Patients with DM had more inhospital acute metabolic complications, although the case-fatality rate was similar between the groups. Independent risk factors for mortality in patients with DM were advanced age, bacteremia, septic shock, and gram-negative pneumonia. Patients with end-organ damage related to DM had more inhospital cardiac events and a higher early case-fatality rate than did the overall population. The use of statins and other cardiovascular drugs was not associated with better CAP outcomes in patients with DM. In conclusion, CAP in patients with DM presents different clinical features compared to the features of patients without DM. PMID:23263718

  15. Historical and clinical features of 200 cases of equine sinus disease.

    PubMed

    Dixon, P M; Parkin, T D; Collins, N; Hawkes, C; Townsend, N B; Fisher, G; Ealey, R; Barakzai, S Z

    2011-10-22

    The historical and clinical findings in 200 referred cases of equine sinus disease were reviewed retrospectively. Univariable and multivariable analyses were performed to detect significant differences in historical or clinical features between various categories of sinus disease. The causes of sinus disease were classified as subacute primary (less than two months duration) (n=52), chronic primary (more than two months duration) (n=37), dental (n=40), sinus cyst (n=26), traumatic (n=13) or mycotic sinusitis (n=7), sinus neoplasia (n=10), dental-related oromaxillary fistula (n=8) and intrasinus progressive ethmoid haematoma (n=7). The majority of sinus disorders were of chronic duration at the time of referral and most (including 97 per cent of chronic primary sinusitis cases) had not responded to previous antibiotic therapy and/or sinus lavage in some cases. Clinical signs included unilateral nasal discharge in most cases, including purulent or mucopurulent discharge in all horses with primary, dental and mycotic sinusitis. Haemorrhagic nasal discharge was a feature of traumatic sinusitis and intrasinus progressive ethmoid haematomas. Firm facial swellings and nasal airflow obstruction were features of sinus cysts and neoplasms. Ipsilateral lymphadenitis was a more prominent feature of sinus disease with active infections such as primary, dental or mycotic sinusitis.

  16. Clinical and Pathologic Features of a Suspected Selenium Deficiency in Captive Plains Zebras.

    PubMed

    Chen, Feilan; Gao, Jie; Wu, Denghu; Xu, Lei; Han, Wenli; Zhang, Denghua; Bi, Xiaoyun; He, Mingzhong; Pan, Yongquan

    2017-03-01

    Previous studies have shown that selenium (Se) deficiency is associated with nutritional myopathy, known as white muscle disease (WMD), in horses. However, correlations between Se deficiency and clinical findings, such as hematologic biochemical values and pathological features, have not been evaluated in captive plains zebras. The purpose of the present study was to investigate the clinical and pathologic features that may be caused by a Se deficiency in the captive plains zebra. Clinical findings, feed analyses, hematologic biochemical analyses, response to treatment, and pathologic examination were assessed in six affected plains zebras. The dietary concentration of Se in feed was also tested. Sudden death occurred in two cases during the first day of the onset of symptoms. Two zebras died at 4 days and two zebras survived after treatment. The clinical signs in affected animals were characterized by general weakness, astasia, and abnormal postural positions. The Se concentration in hay from the breeding stable was low, based on the reference value. Glutathione peroxidase (GSH-Px) activity was lower compared with the equine reference value. Multiple areas of subcutaneous steatitis and pale skeletal muscle and myocardium were revealed at gross necropsy. Degeneration and necrosis of myocardial and skeletal muscles, as well as congestion of the liver, lung, and kidney were found via histopathological examination. No suspected bacterial infections were found. Feed analyses, response to treatment, serum GSH-Px activity, and pathological features suggest that Se deficiency may have caused the disease in the six affected captive plains zebra.

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

    PubMed

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

    2012-04-01

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

  18. The pathogenesis of the clinical features of oral-facial-digital syndrome type I

    PubMed Central

    AlKattan, Wael M.; Al-Qattan, Mohammad M.; Bafaqeeh, Sameer A.

    2015-01-01

    Oral-facial-digital syndrome type I (OFDI) is an X-linked syndrome, which has several craniofacial and limb features; and hence, patients frequently present to craniofacial and plastic surgeons. Oral-facial-digital syndrome type I is caused by mutations in the CXORF5 gene. The gene product is one of the basal body proteins of a slim microtubule-based organelle called the “primary cilium”. Most of the clinical features of OFDI patients are related to dysfunctions of the primary cilium leading to abnormal Hedgehog signal transduction, depressed planar cell polarity pathway, and errors in cell cycle control. PMID:26593159

  19. Clinical features of 80 cases of tinea faciei treated at a rural clinic in Japan.

    PubMed

    Noguchi, Hiromitsu; Jinnin, Masatoshi; Miyata, Keishi; Hiruma, Masataro; Ihn, Hironobu

    2014-12-01

    From March 2008 through February 2014, 80 patients aged 1-95 years (43 men and 37 women) were diagnosed with tinea faciei by a rural Japanese clinic. The affected sites were the cheek in 42 patients (52.5%), the auricles and area surrounding the auricles in 16 (20.0%), and the mandible in 12 (15.0%); 33 patients (41.2%) had concurrent ringworm in areas other than the face. Twenty-one patients (26.3%) had applied topical steroids to treat a rash. The pathogen responsible for tinea faciei was Trichophyton rubrum in 35 patients (43.7%), T. tonsurans in 19 (23.8%), T. mentagrophytes in 3 (3.8%), T. verrucosum in 2 (2.5%), T. violaceum in 2 (2.5%), Microsporum canis in 17 (21.3%), and M. gypseum in 2 (2.5%). Clinical symptoms were divided into three groups based on the severity of inflammation and the extent of lesions and scored in points. Anthropophilic dermatophytes resulted in a score of 1.82 points for the severity of inflammation and a score of 1.84 points for the extent of lesions while zoophilic dermatophytes resulted in a score of 2.14 points for the severity of inflammation and a score of 1.50 points for the extent of lesions. This indicates that anthropophilic fungi resulted in less inflammation and broader lesions, whereas zoophilic fungi resulted in more intense inflammation and smaller lesions. Patients who had applied topical steroids had a mean score of 1.90 points for the severity of inflammation and a mean score of 2.10 points for the extent of lesions. Patients who had not applied topical steroids had a mean score of 1.95 points for the severity of inflammation and a mean score of 1.59 points for the extent of lesions. The severity of inflammation did not differ significantly. However, lesions were significantly broader in patients who had applied topical steroids than in those who had not applied topical steroids (p < 0.04). The severity of tinea faciei is a useful index for the clinical diagnosis of tinea faciei.

  20. Correlation of lesions in the hippocampal region noted on MR images with clinical features.

    PubMed

    Takahashi, S; Higano, S; Kurihara, N; Mugikura, S; Sakamoto, K; Nomura, H; Ikeda, H

    1997-01-01

    The purpose of our work was to compare the MR imaging findings of obvious hippocampal and/or juxtahippocampal lesions with corresponding clinical features. Magnetic resonance images of 63 patients with obvious lesions in the hippocampal and/or juxtahippocampal regions were reviewed and their findings were correlated with patients' clinical characteristics. Based on the MR and clinical findings, the patients were divided into four groups: (a) 26 patients with space occupying lesions or suspected vascular malformation frequently causing symptomatic temporal epilepsy; (b) 14 with hippocampal infarcts, which when left-sided or bilateral caused amnesia; (c) 11 with encephalitis and 5 with old temporal contusion usually accompanied by both amnesia and epilepsy; and (d) 7 with temporal atrophy and progressive dementia of subacute onset. Magnetic resonance imaging allows precise localization and evaluation of the clinical correlates of hippocampal and juxtahippocampal lesions, which frequently caused symptomatic temporal epilepsy and/or amnesic syndrome.

  1. Incidence, clinical features and para-clinical findings of achalasia in Algeria: Experience of 25 years

    PubMed Central

    Tebaibia, Amar; Boudjella, Mohammed Amine; Boutarene, Djamel; Benmediouni, Farouk; Brahimi, Hakim; Oumnia, Nadia

    2016-01-01

    AIM To investigate the incidence of achalasia in Algeria and to determine its clinical and para-clinical profile. To evaluate the impact of continuing medical education (CME) on the incidence of this disease. METHODS From 1990 to 2014, 1256 patients with achalasia were enrolled in this prospective study. A campaign of CME on diagnosis involving different regions of the country was conducted between 1999 and 2003. Annual incidence and prevalence were calculated by relating the number of diagnosed cases to 105 inhabitants. Each patient completed a standardized questionnaire, and underwent upper endoscopy, barium swallow and esophageal manometry. We systematically looked for Allgrove syndrome and familial achalasia. RESULTS The mean annual incidence raised from 0.04 (95%CI: 0.028-0.052) during the 1990s to 0.27/105 inhabitants/year (95%CI: 0.215-0.321) during the 2000s. The incidence of the disease was two and half times higher in the north and the center compared to the south of the country. One-hundred-and-twenty-nine (10%) were children and 97 (7.7%) had Allgrove syndrome. Familial achalasia was noted in 18 different families. Patients had dysphagia (99%), regurgitation (83%), chest pain (51%), heartburn 24.5% and weight loss (70%). The lower esophageal sphincter was hypertensive in 53% and hypotensive in 0.6%. CONCLUSION The mean incidence of achalasia in Algeria is at least 0.27/105 inhabitants. A good impact on the incidence of CME was noted. A gradient of incidence between different regions of the country was found. This variability is probably related to genetic and environmental factors. The discovery of an infantile achalasia must lead to looking for Allgrove syndrome and similar cases in the family. PMID:27784974

  2. Systems Medicine: from molecular features and models to the clinic in COPD

    PubMed Central

    2014-01-01

    Background and hypothesis Chronic Obstructive Pulmonary Disease (COPD) patients are characterized by heterogeneous clinical manifestations and patterns of disease progression. Two major factors that can be used to identify COPD subtypes are muscle dysfunction/wasting and co-morbidity patterns. We hypothesized that COPD heterogeneity is in part the result of complex interactions between several genes and pathways. We explored the possibility of using a Systems Medicine approach to identify such pathways, as well as to generate predictive computational models that may be used in clinic practice. Objective and method Our overarching goal is to generate clinically applicable predictive models that characterize COPD heterogeneity through a Systems Medicine approach. To this end we have developed a general framework, consisting of three steps/objectives: (1) feature identification, (2) model generation and statistical validation, and (3) application and validation of the predictive models in the clinical scenario. We used muscle dysfunction and co-morbidity as test cases for this framework. Results In the study of muscle wasting we identified relevant features (genes) by a network analysis and generated predictive models that integrate mechanistic and probabilistic models. This allowed us to characterize muscle wasting as a general de-regulation of pathway interactions. In the co-morbidity analysis we identified relevant features (genes/pathways) by the integration of gene-disease and disease-disease associations. We further present a detailed characterization of co-morbidities in COPD patients that was implemented into a predictive model. In both use cases we were able to achieve predictive modeling but we also identified several key challenges, the most pressing being the validation and implementation into actual clinical practice. Conclusions The results confirm the potential of the Systems Medicine approach to study complex diseases and generate clinically relevant

  3. Antiviral treatment of influenza in South Korea.

    PubMed

    Choe, Young June; Lee, Hyunju; Lee, Hoan Jong; Choi, Eun Hwa

    2015-06-01

    Antiviral therapy has an important role in the treatment and chemoprophylaxis of influenza. At present, two classes of antiviral agents, adamantanes and neuraminidase inhibitors, are available for the treatment and chemoprophylaxis of influenza in Korea. Because of the widespread resistance against adamantanes, neuraminidase inhibitors are mainly used. Because each country has a unique epidemiology of influenza, the proper use of antiviral agents should be determined based on local data. Decisions on the clinical practice in the treatment of influenza in South Korea are guided by the local surveillance data, practice guidelines, health insurance system and the resistance patterns of the circulating influenza viruses. This review highlights the role of antiviral agents in the treatment and outcome of influenza in Korea by providing comprehensive information of their clinical usage in Korea.

  4. An image feature-based approach to automatically find images for application to clinical decision support.

    PubMed

    Stanley, R Joe; De, Soumya; Demner-Fushman, Dina; Antani, Sameer; Thoma, George R

    2011-07-01

    The illustrations in biomedical publications often provide useful information in aiding clinicians' decisions when full text searching is performed to find evidence in support of a clinical decision. In this research, image analysis and classification techniques are explored to automatically extract information for differentiating specific modalities to characterize illustrations in biomedical publications, which may assist in the evidence finding process. Global, histogram-based, and texture image illustration features were compared to basis function luminance histogram correlation features for modality-based discrimination over a set of 742 manually annotated images by modality (radiological, photo, etc.) selected from the 2004-2005 issues of the British Journal of Oral and Maxillofacial Surgery. Using a mean shifting supervised clustering technique, automatic modality-based discrimination results as high as 95.57% were obtained using the basis function features. These results compared favorably to other feature categories examined. The experimental results show that image-based features, particularly correlation-based features, can provide useful modality discrimination information.

  5. Correlation of clinical and molecular features in spinal bulbar muscular atrophy

    PubMed Central

    Nirmalananthan, Niranjanan; Masset, Luc; Skorupinska, Iwona; Collins, Toby; Cortese, Andrea; Pemble, Sally; Malaspina, Andrea; Fisher, Elizabeth M.C.; Greensmith, Linda; Hanna, Michael G.

    2014-01-01

    Objectives: To characterize the clinical and genetic features of spinal bulbar muscular atrophy (SBMA), a rare neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene, in the United Kingdom. Methods: We created a national register for SBMA in the United Kingdom and recruited 61 patients between 2005 and 2013. In our cross-sectional study, we assessed, by direct questioning, impairment of activities of daily living (ADL) milestones, functional rating, and subjective disease impact, and performed correlations with both CAG repeat size and degree of somatic mosaicism. Ten patients were deceased, 46 patients participated in the study, and 5 declined. Results: Subjects had an average age at onset of 43.4 years, and weakness onset most frequently occurred in the lower limbs (87%). Impaired mobility was the most frequently reported problem by patients, followed by bulbar dysfunction. Age distribution of the impairment of ADL milestones showed remarkable overlap with a Japanese study. We have identified a significant correlation between the number of CAG repeats and both age at onset and ADL milestones. Somatic mosaicism also showed a correlation with CAG expansion size and age at onset. Conclusions: Clinical features in SBMA show a substantial overlap when comparing populations with different genetic backgrounds. This finding has major implications, because multicenter trials will be necessary to obtain sufficient power in future clinical trials. Clinical-genetic correlations are strong in SBMA and should inform any clinical research strategy in this condition. PMID:24814851

  6. Semantic Role Labeling of Clinical Text: Comparing Syntactic Parsers and Features

    PubMed Central

    Zhang, Yaoyun; Jiang, Min; Wang, Jingqi; Xu, Hua

    2016-01-01

    Semantic role labeling (SRL), which extracts shallow semantic relation representation from different surface textual forms of free text sentences, is important for understanding clinical narratives. Since semantic roles are formed by syntactic constituents in the sentence, an effective parser, as well as an effective syntactic feature set are essential to build a practical SRL system. Our study initiates a formal evaluation and comparison of SRL performance on a clinical text corpus MiPACQ, using three state-of-the-art parsers, the Stanford parser, the Berkeley parser, and the Charniak parser. First, the original parsers trained on the open domain syntactic corpus Penn Treebank were employed. Next, those parsers were retrained on the clinical Treebank of MiPACQ for further comparison. Additionally, state-of-the-art syntactic features from open domain SRL were also examined for clinical text. Experimental results showed that retraining the parsers on clinical Treebank improved the performance significantly, with an optimal F1 measure of 71.41% achieved by the Berkeley parser. PMID:28269926

  7. Semantic Role Labeling of Clinical Text: Comparing Syntactic Parsers and Features.

    PubMed

    Zhang, Yaoyun; Jiang, Min; Wang, Jingqi; Xu, Hua

    2016-01-01

    Semantic role labeling (SRL), which extracts shallow semantic relation representation from different surface textual forms of free text sentences, is important for understanding clinical narratives. Since semantic roles are formed by syntactic constituents in the sentence, an effective parser, as well as an effective syntactic feature set are essential to build a practical SRL system. Our study initiates a formal evaluation and comparison of SRL performance on a clinical text corpus MiPACQ, using three state-of-the-art parsers, the Stanford parser, the Berkeley parser, and the Charniak parser. First, the original parsers trained on the open domain syntactic corpus Penn Treebank were employed. Next, those parsers were retrained on the clinical Treebank of MiPACQ for further comparison. Additionally, state-of-the-art syntactic features from open domain SRL were also examined for clinical text. Experimental results showed that retraining the parsers on clinical Treebank improved the performance significantly, with an optimal F1 measure of 71.41% achieved by the Berkeley parser.

  8. Severe myalgia of the lower extremities as the first clinical feature of meningococcal purpura fulminans.

    PubMed

    de Souza, Alexandre Leite; Sztajnbok, Jaques; Salgado, Maristela Marques; Romano, Carla C; Alkmin, Maria das Graças Adelino; Duarte, Alberto J S; Seguro, Antonio Carlos

    2007-10-01

    In patients with meningococcal infection, devastating presentations, such as purpura fulminans, which can progress to extensive tissue necrosis of the limbs and digits, have a significant social impact. The case presented herein illustrates such a phenomenon in a patient who developed bilateral necrosis of the lower extremities as a result of infection with Neisseria meningitis. We emphasize that severe myalgia was the first clinical manifestation of meningococcal purpura fulminans in our case. However, myalgia has typically been overlooked and undervalued as an early clinical feature of meningococcal sepsis. Early recognition and prompt initial antibiotic therapy continue to be the cornerstones of the successful management of this dramatic disease, reducing morbidity and mortality.

  9. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

    PubMed Central

    Tanna, Preena; Strauss, Rupert W; Fujinami, Kaoru; Michaelides, Michel

    2017-01-01

    Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4. Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies. The aims of this review are to describe the detailed phenotypic and genotypic characteristics of the disease, conventional and novel imaging findings, current knowledge of animal models and pathogenesis, and the multiple avenues of intervention being explored. PMID:27491360

  10. Two Cases of Chronic Idiopathic Intestinal Pseudo-obstruction with Different Clinical Features

    PubMed Central

    Lee, Byoung Hwan; Kang, Sung-Bum; Lee, Kyoung-Ho; Oh, Jane C.; Kim, Sun-Mi; Park, Young Soo; Lee, Dong Ho

    2010-01-01

    Chronic intestinal pseudo-obstruction (CIPO) is a rare disorder characterized by a severe impairment of gastrointestinal propulsion in the absence of mechanical obstruction. We experienced a case of chronic pseudo-obstruction in the initial phase mimicking acute pseudo-obstruction, which was treated medically. This ongoing case was compared to another recurrent and intractable case successfully treated with surgery and diagnosed as hypoganglionosis. These two cases showed different clinical features and therapeutic approaches for CIPO; one with the first episode of CIPO mimicking Ogilvie's syndrome; the other with recurrent episodes of CIPO with typical features. In conclusion, CIPO is a difficult disorder with various clinical manifestations and different treatment modalities, therefore individualized diagnostic and therapeutic approaches are needed. PMID:20535331

  11. Two Cases of Chronic Idiopathic Intestinal Pseudo-obstruction with Different Clinical Features.

    PubMed

    Lee, Byoung Hwan; Kim, Nayoung; Kang, Sung-Bum; Lee, Kyoung-Ho; Oh, Jane C; Kim, Sun-Mi; Park, Young Soo; Lee, Dong Ho

    2010-01-01

    Chronic intestinal pseudo-obstruction (CIPO) is a rare disorder characterized by a severe impairment of gastrointestinal propulsion in the absence of mechanical obstruction. We experienced a case of chronic pseudo-obstruction in the initial phase mimicking acute pseudo-obstruction, which was treated medically. This ongoing case was compared to another recurrent and intractable case successfully treated with surgery and diagnosed as hypoganglionosis. These two cases showed different clinical features and therapeutic approaches for CIPO; one with the first episode of CIPO mimicking Ogilvie's syndrome; the other with recurrent episodes of CIPO with typical features. In conclusion, CIPO is a difficult disorder with various clinical manifestations and different treatment modalities, therefore individualized diagnostic and therapeutic approaches are needed.

  12. Chronic pain and fatigue syndromes: overlapping clinical and neuroendocrine features and potential pathogenic mechanisms.

    PubMed

    Clauw, D J; Chrousos, G P

    1997-01-01

    Patients with unexplained chronic pain and/or fatigue have been described for centuries in the medical literature, although the terms used to describe these symptom complexes have changed frequently. The currently preferred terms for these syndromes are fibromyalgia and chronic fatigue syndrome, names which describe the prominent clinical features of the illness without any attempt to identify the cause. This review delineates the definitions of these syndromes, and the overlapping clinical features. A hypothesis is presented to demonstrate how genetic and environmental factors may interact to cause the development of these syndromes, which we postulate are caused by central nervous system dysfunction. Various components of the central nervous system appear to be involved, including the hypothalamic pituitary axes, pain-processing pathways, and autonomic nervous system. These central nervous system changes lead to corresponding changes in immune function, which we postulate are epiphenomena rather than the cause of the illnesses.

  13. A case of chronic cutaneous graft versus host disease with the clinical features of exfoliative dermatitis.

    PubMed

    Ahn, Hyo Sang; Park, Hyun Jeong; Lee, Jun Young; Cho, Baik Kee

    2009-08-01

    Graft versus host disease (GVHD) has traditionally been divided into acute GVHD and chronic GVHD based on the period it occurs after transplantation. Chronic cutaneous GVHD has traditionally been classified into the lichenoid and scleroderma-like forms. However, unusual clinical forms have been reported such as dermatomyositis, lupus erythematosus and exfoliative dermatitis. A 35-year-old woman presented with a 2 week history of a pruritic maculopapular rash on the whole body. The rash rapidly progressed to confluent erythematous scaly patches and plaques with micaceous scales and this finally led to a generalized exfoliative dermatitis in a 1 month period. Here we present an unusual case of chronic cutaneous GVHD with the clinical features of exfoliative dermatitis. The histopathologic examination demonstrated the lichenoid features of chronic cutaneous GVHD.

  14. Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology.

    PubMed Central

    Kirkness, C M; McCartney, A; Rice, N S; Garner, A; Steele, A D

    1987-01-01

    The clinical and histological features of congenital hereditary corneal oedema in 23 patients are presented. The series includes cases of both recessive and dominant inheritance. Although the condition is present at birth or in early childhood, visual development appears to be little impaired, if at all. Penetrating keratoplasty carries a relatively good surgical prognosis and can produce a substantial visual gain even when carried out late in life. Images PMID:3548808

  15. A case of asymptomatic pancytopenia with clinical features of hemolysis as a presentation of pernicious anemia

    PubMed Central

    Kollipara, Venkateswara K.; Brine, Patrick L.; Gemmel, David; Ingnam, Sisham

    2016-01-01

    Pernicious anemia is an autoimmune disease with a variety of clinical presentations. We describe a case of pernicious anemia presenting with pancytopenia with hemolytic features. Further workup revealed very low vitamin B12 levels and elevated methylmalonic acid. It is important for a general internist to identify pernicious anemia as one of the cause of pancytopenia and hemolytic anemia to avoid extensive workup. Pernicious anemia can present strictly with hematological abnormalities without neurological problems or vice versa as in our case. PMID:27609735

  16. 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

  17. Characterization of the Pathological and Biochemical Markers that Correlate to the Clinical Features of Autism

    DTIC Science & Technology

    2012-08-01

    or autistic features, and frequently with seizures. The parent -of-origin effect is not evident in the reported cases of int trp(15), with both maternal ...and paternal triplications associated with poor outcome. Clinical studies indicate that most individuals diag- nosed with dup(15) of maternal origin...EH Jr, Lindgren V, Leventhal BL, et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet

  18. Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report.

    PubMed

    Alves, Daniel Berretta; Silva, Juliana Melo; Menezes, Tatiany Oliveira; Cavaleiro, Rosely Santos; Tuji, Fabrício Mesquita; Lopes, Marcio Ajudarte; Zaia, Alexandre Augusto; Coletta, Ricardo Della

    2014-03-16

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. HGPS has an estimated incidence of one in four million to one in eight million births. The main clinical features of HGPS include short stature, craniofacial dimorphism, alopecia, bone fragility, and cardiovascular disorders. The most frequent cause of death is myocardial infarction at a mean age of 13 years old. Dental manifestations include delayed development and eruption of teeth, discoloration, crowding and rotation of teeth, and displaced teeth. Cone beam computed tomography images revealed the absence of the sphenoid, frontal, and maxillary sinus, flattening of the condyles and glenoid fossa, and bilateral hypoplasia of the mandibular condyles. The disease is caused by mutations in lamin A/C (LMNA). Here, we present a case report of an 11-year-old boy with classical features of HGPS, which was caused by a de novo germ-line mutation (C1824T, G608G) in exon 11 of the LMNA gene. Some uncommon HGPS-associated features in our patient, such as alterations in the facial sinuses and hypoplasia of the condyles, contributed to the expansion of the phenotypic spectrum of this syndrome from a dentomaxillofacial perspective.

  19. Fractographic features of glass-ceramic and zirconia-based dental restorations fractured during clinical function.

    PubMed

    Oilo, Marit; Hardang, Anne D; Ulsund, Amanda H; Gjerdet, Nils R

    2014-06-01

    Fractures during clinical function have been reported as the major concern associated with all-ceramic dental restorations. The aim of this study was to analyze the fracture features of glass-ceramic and zirconia-based restorations fractured during clinical use. Twenty-seven crowns and onlays were supplied by dentists and dental technicians with information about type of cement and time in function, if available. Fourteen lithium disilicate glass-ceramic restorations and 13 zirconia-based restorations were retrieved and analyzed. Fractographic features were examined using optical microscopy to determine crack initiation and crack propagation of the restorations. The material comprised fractured restorations from one canine, 10 incisors, four premolars, and 11 molars. One crown was not categorized because of difficulty in orientation of the fragments. The results revealed that all core and veneer fractures initiated in the cervical margin and usually from the approximal area close to the most coronally placed curvature of the margin. Three cases of occlusal chipping were found. The margin of dental all-ceramic single-tooth restorations was the area of fracture origin. The fracture features were similar for zirconia, glass-ceramic, and alumina single-tooth restorations. Design features seem to be of great importance for fracture initiation.

  20. Fractographic features of glass-ceramic and zirconia-based dental restorations fractured during clinical function

    PubMed Central

    Øilo, Marit; Hardang, Anne D; Ulsund, Amanda H; Gjerdet, Nils R

    2014-01-01

    Fractures during clinical function have been reported as the major concern associated with all-ceramic dental restorations. The aim of this study was to analyze the fracture features of glass-ceramic and zirconia-based restorations fractured during clinical use. Twenty-seven crowns and onlays were supplied by dentists and dental technicians with information about type of cement and time in function, if available. Fourteen lithium disilicate glass-ceramic restorations and 13 zirconia-based restorations were retrieved and analyzed. Fractographic features were examined using optical microscopy to determine crack initiation and crack propagation of the restorations. The material comprised fractured restorations from one canine, 10 incisors, four premolars, and 11 molars. One crown was not categorized because of difficulty in orientation of the fragments. The results revealed that all core and veneer fractures initiated in the cervical margin and usually from the approximal area close to the most coronally placed curvature of the margin. Three cases of occlusal chipping were found. The margin of dental all-ceramic single-tooth restorations was the area of fracture origin. The fracture features were similar for zirconia, glass-ceramic, and alumina single-tooth restorations. Design features seem to be of great importance for fracture initiation. PMID:24698173

  1. Clinical Features Indicating Nigrostriatal Dopaminergic Degeneration in Drug-Induced Parkinsonism

    PubMed Central

    Lee, Seung Ha; Kim, Han Kyeol; Lee, Young Gun; Lyoo, Chul Hyoung; Ahn, Sung Jun; Lee, Myung Sik

    2017-01-01

    Objective Patients with drug-induced parkinsonism (DIP) may have nigrostriatal dopaminergic degeneration. We studied the clinical features that may indicate nigrostriatal dopaminergic degeneration in patients with DIP. Methods Forty-one DIP patients were classified into normal and abnormal [18F] FP-CIT scan groups. Differences in 32 clinical features and drug withdrawal effects were studied. Results Twenty-eight patients had normal (Group I) and 13 patients had abnormal (Group II) scans. Eight patients of Group I, but none of Group II, had taken calcium channel blockers (p = 0.040). Three patients of Group I and six of Group II had hyposmia (p = 0.018). After drug withdrawal, Group I showed greater improvement in Unified Parkinson’s Disease Rating Scale total motor scores and subscores for bradykinesia and tremors than Group II. Only hyposmia was an independent factor associated with abnormal scans, but it had suboptimal sensitivity. Conclusion None of the clinical features were practical indicators of nigrostriatal dopaminergic degeneration in patients with DIP. PMID:28122428

  2. Solitary rectal ulcer syndrome: clinical features, pathophysiology, diagnosis and treatment strategies.

    PubMed

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

    2014-01-21

    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.

  3. Prader-Willi Syndrome: A spectrum of anatomical and clinical features.

    PubMed

    Hurren, Bradley J; Flack, Natasha A M S

    2016-07-01

    Prader-Willi Syndrome (PWS) is estimated to affect 400,000 people worldwide. First described clinically in 1956, PWS is now known to be a result of a genetic mutation, involving Chromosome 15. The phenotypical appearance of individuals with the syndrome follows a similar developmental course. During infancy, universal hypotonia accompanied by feeding problems, hypogonadism, and dolichocephaly are evident. Characteristic facial features such as narrow bifrontal diameter, almond-shaped eyes, and small mouth (with downturned corners and thin upper lip) may also be evident at this stage. In early childhood, the craniofacial features become more obvious and a global developmental delay is observed. Simultaneously, individuals develop hyperphagia that leads to excessive or rapid weight gain, which, if untreated, exists throughout their lifespan and may predispose them to numerous, serious health issues. The standard tool for differential diagnosis of PWS is genetic screening; however, clinicians also need to be aware of the characteristic features of this disorder, including differences between the genetic subtypes. As the clinical manifestations of the syndrome vary between individuals and become evident at different developmental time points, early assessment is hindered. This article focuses on the clinical and anatomical manifestations of the syndrome and highlights the areas of discrepancy and limitations within the existing literature. Clin. Anat. 29:590-605, 2016. © 2016 Wiley Periodicals, Inc.

  4. 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

  5. Genomic Features of Environmental and Clinical Vibrio parahaemolyticus Isolates Lacking Recognized Virulence Factors Are Dissimilar.

    PubMed

    Ronholm, J; Petronella, N; Chew Leung, C; Pightling, A W; Banerjee, S K

    2015-12-04

    Vibrio parahaemolyticus is a bacterial pathogen that can cause illness after the consumption or handling of contaminated seafood. The primary virulence factors associated with V. parahaemolyticus illness are thermostable direct hemolysin (TDH) and Tdh-related hemolysin (TRH). However, clinical strains lacking tdh and trh have recently been isolated, and these clinical isolates are poorly understood. To help understand the emergence of clinical tdh- and trh-negative isolates, a genomic approach was used to comprehensively compare 4 clinical tdh- and trh-negative isolates with 16 environmental tdh- and trh-negative isolates and 34 clinical isolates positive for tdh or trh, or both, with the objective of identifying genomic features that are unique to clinical tdh- and trh-negative isolates. The prevalence of pathogenicity islands (PAIs) common to clinical isolates was thoroughly examined in each of the clinical tdh- and trh-negative isolates. The tdh PAI was not present in any clinical or environmental tdh- and trh-negative isolates. The trh PAI was not present in any environmental isolates; however, in clinical tdh- and trh-negative isolate 10-4238, the majority of the trh PAI including a partial trh1 gene was present, which resulted in reclassification of this isolate as a tdh-negative and trh-positive isolate. In the other clinical tdh- and trh-negative isolates, neither the trh gene nor the trh PAI was present. We identified 862 genes in clinical tdh- and trh-negative isolates but not in environmental tdh- and trh-negative isolates. Many of these genes are highly homologous to genes found in common enteric bacteria and included genes encoding a number of chemotaxis proteins and a novel putative type VI secretion system (T6SS) effector and immunity protein (T6SS1). The availability of genome sequences from clinical V. parahaemolyticus tdh- and trh-negative isolates and the comparative analysis may help provide an understanding of how this pathotype is able to

  6. Genomic Features of Environmental and Clinical Vibrio parahaemolyticus Isolates Lacking Recognized Virulence Factors Are Dissimilar

    PubMed Central

    Petronella, N.; Chew Leung, C.; Pightling, A. W.; Banerjee, S. K.

    2015-01-01

    Vibrio parahaemolyticus is a bacterial pathogen that can cause illness after the consumption or handling of contaminated seafood. The primary virulence factors associated with V. parahaemolyticus illness are thermostable direct hemolysin (TDH) and Tdh-related hemolysin (TRH). However, clinical strains lacking tdh and trh have recently been isolated, and these clinical isolates are poorly understood. To help understand the emergence of clinical tdh- and trh-negative isolates, a genomic approach was used to comprehensively compare 4 clinical tdh- and trh-negative isolates with 16 environmental tdh- and trh-negative isolates and 34 clinical isolates positive for tdh or trh, or both, with the objective of identifying genomic features that are unique to clinical tdh- and trh-negative isolates. The prevalence of pathogenicity islands (PAIs) common to clinical isolates was thoroughly examined in each of the clinical tdh- and trh-negative isolates. The tdh PAI was not present in any clinical or environmental tdh- and trh-negative isolates. The trh PAI was not present in any environmental isolates; however, in clinical tdh- and trh-negative isolate 10-4238, the majority of the trh PAI including a partial trh1 gene was present, which resulted in reclassification of this isolate as a tdh-negative and trh-positive isolate. In the other clinical tdh- and trh-negative isolates, neither the trh gene nor the trh PAI was present. We identified 862 genes in clinical tdh- and trh-negative isolates but not in environmental tdh- and trh-negative isolates. Many of these genes are highly homologous to genes found in common enteric bacteria and included genes encoding a number of chemotaxis proteins and a novel putative type VI secretion system (T6SS) effector and immunity protein (T6SS1). The availability of genome sequences from clinical V. parahaemolyticus tdh- and trh-negative isolates and the comparative analysis may help provide an understanding of how this pathotype is able to

  7. Evaluation of the association between perineural invasion and clinical and histopathological features of cervical cancer.

    PubMed

    Wei, You-Sheng; Yao, De-Sheng; Long, Ying

    2016-09-01

    Perineural invasion (PNI) has been investigated as a new prognostic factor in a number of carcinomas. However, studies on PNI in cervical cancer are limited, and inconsistent conclusions have been reported by different groups. The aim of the present study was to analyze the relationship between perineural invasion (PNI) and clinical and histopathological features of cervical cancer, and to evaluate the clinical significance of PNI of cervical cancer. Retrospective review identified 206 patients with cervical cancer who underwent radical hysterectomy plus pelvic lymphadenectomy between December 2012 and August 2014. The association between PNI and clinical and histopathological features of cervical cancer and post-operative radiotherapy was evaluated based on univariate and multivariate analyses. PNI of cervical cancer was identified in 33 of 206 (16%) cervical cancer patients. Univariate analysis demonstrated that PNI was associated with clinical stage, tumor grade, tumor size, depth of invasion, lymphovascular space invasion (LVSI), and lymph node metastasis (P<0.05), but not associated with age and histopathological types (P>0.05). Multivariate analysis suggests that LVSI and lymph node metastasis were associated with PNI of cervical cancer (P<0.05). In addition, post-operative radiotherapy was significantly more recommended for patients with PNI than those without PNI (P<0.001). In conclusion, PNI of cervical cancer is associated with LVSI and lymph node metastasis and can be used as an index for the determination of post-operative radiotherapy for cervical cancer patients.

  8. Epidemiological features of amyotrophic lateral sclerosis in a large clinic-based African American population.

    PubMed

    Kazamel, Mohamed; Cutter, Gary; Claussen, Gwendolyn; Alsharabati, Mohammad; Oh, Shin J; Lu, Liang; King, Peter H

    2013-09-01

    Our objective was to identify the main clinical and epidemiological features of ALS in a large cohort of African American (AA) patients and compare them to Caucasian (CA) patients in a clinic-based population. We retrospectively identified 207 patients who were diagnosed with ALS based on the revised El Escorial criteria (60 AA and 147 CA subjects). Patients were seen in the Neuromuscular Division at the University Medical Center. We compared epidemiological and clinical features of these two groups, focusing on age of onset and diagnosis, clinical presentation and survival. Results showed that AA patients had a significantly younger age of disease onset (55 years vs. 61 years for CA, p = 0.011) and were diagnosed at an earlier age (56 years vs. 62 years, p = 0.012). In younger ALS patients (< 45 years of age), there was a significant difference in gender frequency, with females predominating in the AA population and males in the CA population (p = 0.025). In a multivariable Cox proportional hazard model, survival rates were not different between the groups. In both groups, survival significantly increased with younger age. In conclusion, AA patients presented at an earlier age, but there was no difference in survival compared to CA patients. A gender reversal occurred in younger ALS patients, with AA patients more likely to be female and CA patients more likely to be male.

  9. A patient with amyotrophic lateral sclerosis and atypical clinical and electrodiagnostic features: a case report

    PubMed Central

    2011-01-01

    Introduction Amyotrophic lateral sclerosis is a rapidly progressive, fatal neurodegenerative disorder for which there is no effective treatment. The diagnosis is dependent on the clinical presentation and consistent electrodiagnostic studies. Typically, there is a combination of upper and lower motor neuron signs as well as electrodiagnostic studies indicative of diffuse motor axonal injury. The presentation of amyotrophic lateral sclerosis, however, may be variable. At the same time, the diagnosis is essential for patient prognosis and management. It is therefore important to appreciate the range of possible presentations of amyotrophic lateral sclerosis. Case presentation We present the case of a 57-year-old Caucasian man with pathological findings on postmortem examination consistent with amyotrophic lateral sclerosis but atypical clinical and electrodiagnostic features. He died after a rapid course of progressive weakness. The patient did not respond to immunosuppressive therapy. Conclusion Amyotrophic lateral sclerosis should be considered in patients with a rapidly progressive, unexplained neuropathic process. This should be true even if there are atypical clinical and electrodiagnostic findings. Absence of response to therapy and the development of upper motor neuron signs should reinforce the possibility that amyotrophic lateral sclerosis may be present. Since amyotrophic lateral sclerosis is a fatal illness, however, the possibility of this disease in patients with atypical clinical features should not diminish the need for a thorough diagnostic evaluation and treatment trials. PMID:22047468

  10. Prevalence of neuropathic features of back pain in clinical populations: implications for the diagnostic triage paradigm.

    PubMed

    Hush, Julia M; Marcuzzi, Anna

    2012-07-01

    SUMMARY Contemporary clinical assessment of back pain is based on the diagnostic triage paradigm. The most common diagnostic classification is nonspecific back pain, considered to be of nociceptive etiology. A small proportion are diagnosed with radicular pain, of neuropathic origin. In this study we review the body of literature on the prevalence of neuropathic features of back pain, revealing that the point prevalence is 17% in primary care, 34% in mixed clinical settings and 53% in tertiary care. There is evidence that neuropathic features of back pain are not restricted to typical clinical radicular pain phenotypes and may be under-recognized, particularly in primary care. The consequence of this is that in the clinic, diagnostic triage may erroneously classify patients with nonspecific back pain or radicular pain. A promising alternative is the development of mechanism-based pain phenotyping in patients with back pain. Timely identification of contributory pain mechanisms may enable greater opportunity to select appropriate therapeutic targets and improve patient outcomes.

  11. Biomechanical gait features associated with hip osteoarthritis: Towards a better definition of clinical hallmarks.

    PubMed

    Meyer, Christophe A G; Corten, Kristoff; Fieuws, Steffen; Deschamps, Kevin; Monari, Davide; Wesseling, Mariska; Simon, Jean-Pierre; Desloovere, Kaat

    2015-10-01

    Critical appraisal of the literature highlights that the discriminative power of gait-related features in patients with hip osteoarthritis (OA) has not been fully explored. We aimed to reduce the number of gait-related features and define the most discriminative ones comparing the three-dimensional gait analysis of 20 patients with hip osteoarthritis (OA) with those of 17 healthy peers. First, principal component analysis was used to reduce the high-dimensional gait data into a reduced set of interpretable variables for further analysis, including tests for group differences. These differences were indicative for the selection of the top 10 variables to be included into linear discriminant analysis models (LDA). Our findings demonstrated the successful data reduction of hip osteoarthritic-related gait features with a high discriminatory power. The combination of the top variables into LDA models clearly separated groups, with a maximum misclassification error rate of 19%, estimated by cross-validation. Decreased hip/knee extension, hip flexion and internal rotation moment were gait features with the highest discriminatory power. This study listed the most clinically relevant gait features characteristics of hip OA. Moreover, it will help clinicians and physiotherapists understand the movement pathomechanics related to hip OA useful in the management and design of rehabilitation intervention.

  12. Clinical and mutational features of X-linked agammaglobulinemia in Mexico.

    PubMed

    García-García, E; Staines-Boone, A T; Vargas-Hernández, A; González-Serrano, M E; Carrillo-Tapia, E; Mogica-Martínez, D; Berrón-Ruíz, L; Segura-Mendez, N H; Espinosa-Rosales, F J; Yamazaki-Nakashimada, M A; Santos-Argumedo, L; López-Herrera, G

    2016-04-01

    X-linked agammaglobulinemia (XLA) is caused by BTK mutations, patients typically show <2% of peripheral B cells and reduced levels of all immunoglobulins; they suffer from recurrent infections of bacterial origin; however, viral infections, autoimmune-like diseases, and an increased risk of developing gastric cancer are also reported. In this work, we report the BTK mutations and clinical features of 12 patients diagnosed with XLA. Furthermore, a clinical revision is also presented for an additional cohort of previously reported patients with XLA. Four novel mutations were identified, one of these located in the previously reported mutation refractory SH3 domain. Clinical data support previous reports accounting for frequent respiratory, gastrointestinal tract infections and other symptoms such as the occurrence of reactive arthritis in 19.2% of the patients. An equal proportion of patients developed septic arthritis; missense mutations and mutations in SH1, SH2 and PH domains predominated in patients who developed arthritis.

  13. Rocky Mountain spotted fever: clinical, laboratory, and epidemiological features of 262 cases.

    PubMed

    Helmick, C G; Bernard, K W; D'Angelo, L J

    1984-10-01

    Most previous reports of Rocky Mountain spotted fever (RMSF) have included cases either not laboratory confirmed or confirmed by relatively weak diagnostic criteria. In the present study detailed epidemiological, clinical, and laboratory features of 262 confirmed or highly probable cases of RMSF reported from six states from 1977 to 1980 were analyzed. This analysis revealed that early clinical diagnosis of RMSF is difficult because the illness may have a gradual or an abrupt onset, the symptoms and signs may be unusual in timing or frequency, and the clinical appearance may vary depending on such factors as age and location of residence. RMSF was diagnosed later in those who died than in survivors, primarily because of atypical initial symptoms and the late onset of rash. RMSF should be considered in any individual who, during the spring and summer, has been in RMSF-endemic areas and develops a fever, regardless of the absence of rash or history of tick exposure.

  14. Interstitial Mycosis Fungoides With Lichen Sclerosus-Like Clinical and Histopathological Features.

    PubMed

    Tekin, Burak; Kempf, Werner; Seckin, Dilek; Ergun, Tulin; Yucelten, Deniz; Demirkesen, Cuyan

    2016-02-01

    Mycosis fungoides (MF) simulates a variety of dermatologic disorders histopathologically and clinically, well deserving the designation of a great mimicker. Interstitial MF is a rare, but well-recognized histopathological variant resembling the interstitial form of granuloma annulare or the inflammatory phase of morphea. From a clinical standpoint, MF can have a wide array of manifestations, including an anecdotal presentation with lesions clinically suggestive of lichen sclerosus (LS). We herein report a 25-year-old man with a history of patch-stage MF who later developed widespread LS-like lesions histopathologically consistent with interstitial MF. In some biopsies, additional features resembling LS were discerned. We think that our case might represent a unique variant of interstitial MF presenting with LS-like lesions. The diagnostic challenge arising from this uncommon presentation is discussed together with review of the literature.

  15. The Spectrum of Pyruvate Dehydrogenase Complex Deficiency: Clinical, Biochemical and Genetic Features in 371 Patients

    PubMed Central

    Patel, Kavi P.; O'Brien, Thomas W.; Subramony, Sankarasubramon H.; Shuster, Jonathan; Stacpoole, Peter W.

    2013-01-01

    Context Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent comprehensive analysis of the natural history and clinical course of this disease. Objective We reviewed 371 cases of PDC deficiency, published between 1970-2010, that involved defects in subunits E1α and E1β and components E1, E2, E3 and the E3 Binding Protein of the complex. Data Sources and Extraction English language peer-reviewed publications were identified, primarily by using PubMed and Google Scholar search engines. Results Neurodevelopmental delay and hypotonia were the commonest clinical signs of PDC deficiency. Structural brain abnormalities frequently included ventriculomegaly, dysgenesis of the corpus callosum and neuroimaging findings typical of Leigh syndrome. Neither gender nor any clinical or neuroimaging feature differentiated the various biochemical etiologies of the disease. Patients who died were younger, presented clinically earlier and had higher blood lactate levels and lower residual enzyme activities than subjects who were still alive at the time of reporting. Survival bore no relationship to the underlying biochemical or genetic abnormality or to gender. Conclusions Although the clinical spectrum of PDC deficiency is broad, the dominant clinical phenotype includes presentation during the first year of life; neurological and neuromuscular degeneration; structural lesions revealed by neuroimaging; lactic acidosis and a blood lactate:pyruvate ratio ≤20. PMID:22079328

  16. The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

    PubMed Central

    Patel, Kavi P.; O’Brien, Thomas W.; Subramony, Sankarasubramon H.; Shuster, Jonathan; Stacpoole, Peter W.

    2014-01-01

    Context Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent comprehensive analysis of the natural history and clinical course of this disease. Objective We reviewed 371 cases of PDC deficiency, published between 1970 and 2010, that involved defects in subunits E1α and E1β and components E1, E2, E3 and the E3 binding protein of the complex. Data sources and extraction English language peer-reviewed publications were identified, primarily by using PubMed and Google Scholar search engines. Results Neurodevelopmental delay and hypotonia were the commonest clinical signs of PDC deficiency. Structural brain abnormalities frequently included ventriculomegaly, dysgenesis of the corpus callosum and neuroimaging findings typical of Leigh syndrome. Neither gender nor any clinical or neuroimaging feature differentiated the various biochemical etiologies of the disease. Patients who died were younger, presented clinically earlier and had higher blood lactate levels and lower residual enzyme activities than subjects who were still alive at the time of reporting. Survival bore no relationship to the underlying biochemical or genetic abnormality or to gender. Conclusions Although the clinical spectrum of PDC deficiency is broad, the dominant clinical phenotype includes presentation during the first year of life; neurological and neuromuscular degeneration; structural lesions revealed by neuroimaging; lactic acidosis and a blood lactate:pyruvate ratio≤20. PMID:22896851

  17. Can simple clinical features be used to identify patients with severe carotid stenosis on Doppler ultrasound?

    PubMed Central

    Mead, G.; Wardlaw, J.; Lewis, S.; McDowall, M.; Dennis, M.

    1999-01-01

    OBJECTIVES—Carotid endarterectomy reduces the risk of stroke in symptomatic patients with severe ipsilateral carotid stenosis. Symptomatic patients should therefore undergo carotid Doppler imaging, but in some centres access to imaging is limited. It was therefore investigated whether simple clinical features alone or in combination could be used to identify patients with severe carotid stenosis, so that they could be referred preferentially for carotid imaging.
METHODS—1041 patients with acute stroke, cerebral or retinal transient ischaemic attacks, and retinal strokes admitted to Western General Hospital or seen in neurovascular clinics were assessed by a stroke physician. Their carotid arteries were investigated using colour Doppler imaging by a consultant neuroradiologist. Patients with primary intracerebral haemorrhage, total anterior circulation strokes, posterior circulation strokes, or posterior circulation transient ischaemic attacks were excluded because carotid surgery would be inappropriate.
RESULTS—726 patients were used in the analysis. Stepwise logistic regression showed that there were significant positive associations between severe carotid stenosis and an ipsilateral bruit, diabetes mellitus, and previous transient ischaemic attacks; and a negative association with lacunar events. The strategy with the highest specificity (97%) was "any three of these four features" but sensitivity was only 17%. The strategy with the highest sensitivity (99%) was to use one or more of the four features, but specificity was only 22%.
CONCLUSION—None of the strategies identified all patients with severe carotid stenosis with a reasonable specificity. When access to carotid imaging is severely limited, simple clinical features are of some use in prioritising patients for imaging, but access to carotid imaging should be improved. 

 PMID:9886444

  18. Early-onset psychoses: comparison of clinical features and adult outcome in 3 diagnostic groups.

    PubMed

    Ledda, Maria Giuseppina; Fratta, Anna Lisa; Pintor, Manuela; Zuddas, Alessandro; Cianchetti, Carlo

    2009-09-01

    A comparison of clinical features and adult outcome in adolescents with three types of psychotic disorders: schizophrenic (SPh), schizoaffective (SA) and bipolar with psychotic features (BPP). Subjects (n = 41) were finally diagnosed (DSM-IV criteria) with SPh (n = 17), SA (n = 11) or BPP (n = 13). Clinical evaluation took place at onset and at a 3-year follow-up in all 41, and at least after 5 years in 36 patients. Symptoms were rated on the basis of the Positive and Negative Syndrome Scale (PANSS), integrating items from the Brief Psychiatric Rating Scale (BPRS) and the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version (K-SADS-PL). The Children Global Assessment Scale (C-GAS) and the Global Assessment Scale (GAF) were used to evaluate global functioning. Significant differences in clinical features were found in the three diagnostic groups as regards several parameters, some present on one and not on other rating scales, underscoring the insufficiency of a single scale for accurate analysis of the features of a psychotic disorder. At onset, a comparison using the simple presence/absence of symptoms showed scant differences among groups, while differences emerged if symptom severity was included in the comparison. Functioning at 3- and 5-year follow-ups showed a significantly better outcome in the BPP group and more substantial deterioration, with similar evolution, in the SPh and SA groups. The integration of several rating scales differentiated between diagnostic groups more effectively. The similar adult functioning outcome in the SPh and SA groups showed how difficult it is to clearly separate these two disorders.

  19. Clinical and historical features of emergency department patients with pericardial effusions

    PubMed Central

    Stolz, Lori; Valenzuela, Josephine; Situ-LaCasse, Elaine; Stolz, Uwe; Hawbaker, Nicolas; Thompson, Matthew; Adhikari, Srikar

    2017-01-01

    BACKGROUND: Diagnosing pericardial effusion is critical for optimal patient care. Typically, clinicians use physical examination findings and historical features suggesting pericardial effusion to determine which patients require echocardiography. The diagnostic characteristics of these tools are not well described. The objective of this study is to determine the prevalence of historical features and sensitivity of clinical signs to inform clinicians when to proceed with echocardiogram. METHODS: A retrospective review of point-of-care echocardiograms performed over a two and a half year period in two emergency departments were reviewed for the presence of a pericardial effusion. Patient charts were reviewed and abstracted for presenting symptoms, historical features and clinical findings. The prevalence of presenting symptoms and historical features and the sensitivity of classic physical examination findings associated with pericardial effusion and tamponade were determined. RESULTS: One hundred and fifty-three patients with pericardial effusion were identified. Of these patients, the most common presenting complaint was chest pain and shortness of breath. Patients had no historical features that would suggest pericardial effusion in 37.5% of cases. None of the patients with pericardial effusion or pericardial tamponade had all of the elements of Beck’s triad. The sensitivity of Beck’s triad was found to be 0 (0%–19.4%). The sensitivity for one finding of Beck’s triad to diagnose pericardial tamponade was 50% (28.0%–72.0%). CONCLUSION: History and physical examination findings perform poorly as tests for the diagnosis of pericardial effusion or pericardial tamponade. Clinicians must liberally evaluate patients suspected of having a pericardial effusion with echocardiography. PMID:28123617

  20. Clinical and epidemiological comparison of human metapneumovirus and respiratory syncytial virus in seoul, Korea, 2003-2008.

    PubMed

    Kim, Chang Keun; Choi, Jungi; Callaway, Zak; Kim, Hyo Bin; Chung, Ju Young; Koh, Young-Yull; Shin, Bo Moon

    2010-03-01

    Human metapneumovirus (HMPV) shares clinical and epidemiological characteristics with well-known respiratory syncytial virus (RSV). The aim of this study was to investigate the clinical and epidemiological differences between HMPV- and RSV-induced wheezing illnesses. A total of 1,008 nasopharyngeal aspirate specimens was collected from 1,008 pediatric patients hospitalized with acute respiratory tract infection at Inje University Sanggye Paik Hospital from December 2003 to April 2008, and tested for seven common respiratory viruses. Conditions classified as wheezing illness were bronchiolitis, reactive airways disease, and bronchial asthma. HMPV caused a significantly lower proportion of wheezing illness when compared to RSV (48.1% vs. 82.2%, P<0.05). HMPV-induced wheezing illness occurred predominantly in older patients when compared to RSV patients (P<0.001). RSV infections peaked in the fall and winter followed by peaks of HMPV infection in winter and spring. Eosinophil counts were significantly higher (P<0.01) in RSV patients when compared to HMPV patients. These results show that human metapneumovirus patients exhibit several different clinical and epidemiological characteristics, such as higher proportion of wheezing illness, age and seasonal incidence, and eosinophil counts, when compared to RSV patients.

  1. Clinical and epidemiological features of coryneform skin infections at a tertiary hospital

    PubMed Central

    Pinto, Malcolm; Hundi, Ganesh Kamath; Bhat, Ramesh Marne; Bala, Nanda Kishore; Dandekeri, Sukumar; Martis, Jacintha; Kambil, Srinath M.

    2016-01-01

    Background: Skin infections caused by coryneform bacteria are common dermatological conditions. However, to the best of our knowledge, no studies are available on the clinical characteristics and epidemiological features of this group of disorders as one entity from India and abroad. Aims: To study the clinical and epidemiological features of coryneform skin infections Methods: A total of 75 patients presenting with clinically distinctive lesions of pitted keratolysis, erythrasma and trichobacteriosis to our hospital were included in the study. Cases were interviewed with particular emphasis on epidemiological features and the various clinical findings were recorded. Investigations like Gram's stain, Wood's light examination, 10% KOH scrapings, were done in selected cases to ascertain the diagnosis. Results: Pitted keratolysis was more common in the age group of 31-40 years (40%) with a male preponderance (76.7%), most commonly affecting pressure bearing areas of the soles with malodour (86.7%) and frequent contact with water (58.3%) constituting the most important presenting symptom and provocating factor respectively. Erythrasma affected both male and female patients equally and was more commonly detected in patients with a BMI > 23kg/m2 (62.5%) and in diabetics (50%). All patients with trichobacteriosis presented with yellow coloured concretions in the axillae. Bromhidrosis (71.4%) and failure to regularly use an axillary deodorant (71.4%) were the most common presenting symptom and predisposing factor respectively. Conclusion: Coryneform skin infections are common dermatological conditions, though epidemiological data are fragmentary. Hyperhidrosis is a common predisposing factor to all three coryneform skin infections. Asymmetrical distribution of pits has been reported in our study. Diabetic status needs to be evaluated in all patients with erythrasma. Woods lamp examination forms an indispensible tool to diagnose erythrasma and trichobacteriosis. PMID

  2. Feasibility of feature-based indexing, clustering, and search of clinical trials: A case study of breast cancer trials from ClinicalTrials.gov

    PubMed Central

    Boland, Mary Regina; Miotto, Riccardo; Gao, Junfeng; Weng, Chunhua

    2013-01-01

    Summary Background When standard therapies fail, clinical trials provide experimental treatment opportunities for patients with drug-resistant illnesses or terminal diseases. Clinical Trials can also provide free treatment and education for individuals who otherwise may not have access to such care. To find relevant clinical trials, patients often search online; however, they often encounter a significant barrier due to the large number of trials and in-effective indexing methods for reducing the trial search space. Objectives This study explores the feasibility of feature-based indexing, clustering, and search of clinical trials and informs designs to automate these processes. Methods We decomposed 80 randomly selected stage III breast cancer clinical trials into a vector of eligibility features, which were organized into a hierarchy. We clustered trials based on their eligibility feature similarities. In a simulated search process, manually selected features were used to generate specific eligibility questions to filter trials iteratively. Results We extracted 1,437 distinct eligibility features and achieved an inter-rater agreement of 0.73 for feature extraction for 37 frequent features occurring in more than 20 trials. Using all the 1,437 features we stratified the 80 trials into six clusters containing trials recruiting similar patients by patient-characteristic features, five clusters by disease-characteristic features, and two clusters by mixed features. Most of the features were mapped to one or more Unified Medical Language System (UMLS) concepts, demonstrating the utility of named entity recognition prior to mapping with the UMLS for automatic feature extraction. Conclusions It is feasible to develop feature-based indexing and clustering methods for clinical trials to identify trials with similar target populations and to improve trial search efficiency. PMID:23666475

  3. Perineural Infiltration of Cutaneous Squamous Cell Carcinoma and Basal Cell Carcinoma Without Clinical Features

    SciTech Connect

    Lin, Charles; Tripcony, Lee; Keller, Jacqui; Poulsen, Michael; Martin, Jarad; Jackson, James; Dickie, Graeme

    2012-01-01

    Purpose: To review the factors that influence outcome and patterns of relapse in patients with cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) with perineural infiltration (PNI) without clinical or radiologic features, treated with surgery and radiotherapy. Methods and Materials: Between 1991 and 2004, 222 patients with SCC or BCC with PNI on pathologic examination but without clinical or radiologic PNI features were identified. Charts were reviewed retrospectively and relevant data collected. All patients were treated with curative intent; all had radiotherapy, and most had surgery. The primary endpoint was 5-year relapse-free survival from the time of diagnosis. Results: Patients with SCC did significantly worse than those with BCC (5-year relapse-free survival, 78% vs. 91%; p < 0.01). Squamous cell carcinoma with PNI at recurrence did significantly worse than de novo in terms of 5-year local failure (40% vs. 19%; p < 0.01) and regional relapse (29% vs. 5%; p < 0.01). Depth of invasion was also a significant factor. Of the PNI-specific factors for SCC, focal PNI did significantly better than more-extensive PNI, but involved nerve diameter or presence of PNI at the periphery of the tumor were not significant factors. Conclusions: Radiotherapy in conjunction with surgery offers an acceptable outcome for cutaneous SCC and BCC with PNI. This study suggests that focal PNI is not an adverse feature.

  4. Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy

    PubMed Central

    Su, Xueying; Lin, Ruizhu; Huang, Yonglan; Sheng, Huiying; Li, Xiaofei; Ting, Tzer Hwu; Liu, Li; Li, Xiuzhen

    2017-01-01

    Objective: To investigate the clinical and molecular features of congenital generalized lipodystrophy (CGL) in three Chinese patients with various typical manifestations. Methods: Data on clinical symptoms, results of laboratory analyses, and previous treatments in three Chinese patients were collected by a retrospective review of medical records. All coding regions and adjacent exon–intron junction regions of AGPAT2 and BSCL2 genes were amplified by polymerase chain reaction and sequenced. Results: Generalized lipodystrophy, acanthosis nigricans, muscular hypertrophy, severe hypertriglyceridemia, and hepatomegaly were features in all three patients. Patient 1 developed diabetes mellitus at the early age of 2 months and he was the youngest CGL patient reported with overt diabetes. Patient 2 was found to have cardiomyopathy when she was aged 6 months. All of the patients were found to have mutations in the BSCL2 gene, but none of these was a novel mutation. We did not find any AGPAT2 mutation in our patients. Conclusion: All of our patients exhibited characteristic features of CGL due to mutations in the BSCL2 gene. PMID:27612026

  5. Sexual Violence among Men in the Military in South Korea

    ERIC Educational Resources Information Center

    Kwon, Insook; Lee, Dong-Ok; Kim, Elli; Kim, Hyun-Young

    2007-01-01

    This research is about sexual violence among men in the military in South Korea. The authors investigated the frequencies, causes, and circumstances surrounding sexual violence and looked for characteristic features of sexual violence among men in the military in South Korea. They found a high frequency of physical sexual violence and a high level…

  6. Evolution of clinical features in possible DLB depending on FP-CIT SPECT result

    PubMed Central

    Moreno, Emilio; Thomas, Alan; Inglis, Fraser; Tabet, Naji; Stevens, Tim; Whitfield, Tim; Aarsland, Dag; Rainer, Michael; Padovani, Alessandro

    2016-01-01

    Objective: To test the hypothesis that core and suggestive features in possible dementia with Lewy bodies (DLB) would vary in their ability to predict an abnormal dopamine transporter scan and therefore a follow-up diagnosis of probable DLB. A further objective was to assess the evolution of core and suggestive features in patients with possible DLB over time depending on the 123I-FP-CIT SPECT scan result. Methods: A total of 187 patients with possible DLB (dementia plus one core or one suggestive feature) were randomized to have dopamine transporter imaging or to follow-up without scan. DLB features were compared at baseline and at 6-month follow-up according to imaging results and follow-up diagnosis. Results: For the whole cohort, the baseline frequency of parkinsonism was 30%, fluctuations 29%, visual hallucinations 24%, and REM sleep behavior disorder 17%. Clinician-rated presence of parkinsonism at baseline was significantly (p = 0.001) more frequent and Unified Parkinson’s Disease Rating Scale (UPDRS) score at baseline was significantly higher (p = 0.02) in patients with abnormal imaging. There was a significant increase in UPDRS score in the abnormal scan group over time (p < 0.01). There was relatively little evolution of the rest of the DLB features regardless of the imaging result. Conclusions: In patients with possible DLB, apart from UPDRS score, there was no difference in the evolution of DLB clinical features over 6 months between cases with normal and abnormal imaging. Only parkinsonism and dopamine transporter imaging helped to differentiate DLB from non-DLB dementia. PMID:27511183

  7. TDP-43 and pathological subtype of Alzheimer’s disease impact clinical features

    PubMed Central

    Josephs, Keith A.; Whitwell, Jennifer L.; Tosakulwong, Nirubol; Weigand, Stephen D.; Murray, Melissa E.; Serie, Amanda M.; Petrucelli, Leonard; Senjem, Matthew L.; Ivnik, Robert J.; Parisi, Joseph E.; Petersen, Ronald C.; Dickson, Dennis W.

    2015-01-01

    Objective To determine whether the frequency of TDP-43 deposition in Alzheimer’s disease (AD) differs across pathologically defined AD subtypes (Hippocampal sparing [HpSp]; Typical and Limbic), and to further examine the relationship between TDP-43, pathological subtype, and clinical features in AD. Methods We identified all cases with pathologically-confirmed AD (NIA-Reagan intermediate-high probability, Braak stage IV–VI) independent of cognitive status (n=188). Neurofibrillary tangle counts were performed using thioflavin-S microscopy in hippocampus and three neocortical regions, and all cases were subtyped: HpSp AD Pathology (n=19); Typical AD Pathology (n=136); Limbic AD Pathology (n=33). TDP-43 immunoreactivity was performed in multiple brain regions to assess for the presence of TDP-43 and TDP-43 stage. All cases were clinically sub-classified at presentation as Amnestic AD Dementia versus Atypical AD Dementia. Statistical analysis was performed using linear and penalized logistic regression to assess associations with pathological subtype, and the effects of TDP-43, accounting for possible interactions between pathological subtype and TDP-43. Results TDP-43 deposition was frequent in Typical (59%) and Limbic AD pathologies (67%), but not HpSp AD Pathology (21%) (p=0.003). The observed associations of TDP-43 with greater memory loss, naming and functional decline, and smaller hippocampal volumes, closest to death, did not differ across AD pathological subtype. Clinical presentation was associated with pathological subtype (p=0.01), but not TDP-43 (p=0.69). Interpretation Although the frequency of TDP-43 deposition in AD varies by pathological subtype, the observed effects of TDP-43 on clinical/MRI features are consistent across pathological subtypes. Clinical presentation in AD is driven by pathological subtype, not by TDP-43. PMID:26224156

  8. A Combination of Molecular Markers and Clinical Features Improve the Classification of Pancreatic Cysts

    PubMed Central

    Springer, Simeon; Wang, Yuxuan; Molin, Marco Dal; Masica, David L.; Jiao, Yuchen; Kinde, Isaac; Blackford, Amanda; Raman, Siva P.; Wolfgang, Christopher L.; Tomita, Tyler; Niknafs, Noushin; Douville, Christopher; Ptak, Janine; Dobbyn, Lisa; Allen, Peter J.; Klimstra, David S.; Schattner, Mark A.; Schmidt, C. Max; Yip-Schneider, Michele; Cummings, Oscar W.; Brand, Randall E.; Zeh, Herbert J.; Singhi, Aatur D.; Scarpa, Aldo; Salvia, Roberto; Malleo, Giuseppe; Zamboni, Giuseppe; Falconi, Massimo; Jang, Jin-Young; Kim, Sun-Whe; Kwon, Wooil; Hong, Seung-Mo; Song, Ki-Byung; Kim, Song Cheol; Swan, Niall; Murphy, Jean; Geoghegan, Justin; Brugge, William; Fernandez-Del Castillo, Carlos; Mino-Kenudson, Mari; Schulick, Richard; Edil, Barish H.; Adsay, Volkan; Paulino, Jorge; van Hooft, Jeanin; Yachida, Shinichi; Nara, Satoshi; Hiraoka, Nobuyoshi; Yamao, Kenji; Hijioka, Susuma; van der Merwe, Schalk; Goggins, Michael; Canto, Marcia Irene; Ahuja, Nita; Hirose, Kenzo; Makary, Martin; Weiss, Matthew J.; Cameron, John; Pittman, Meredith; Eshleman, James R.; Diaz, Luis A.; Papadopoulos, Nickolas; Kinzler, Kenneth W.; Karchin, Rachel; Hruban, Ralph H.; Vogelstein, Bert; Lennon, Anne Marie

    2016-01-01

    Background & Aims The management of pancreatic cysts poses challenges to both patients and their physicians. We investigated whether a combination of molecular markers and clinical information could improve the classification of pancreatic cysts and management of patients. Methods We performed a multi-center, retrospective study of 130 patients with resected pancreatic cystic neoplasms (12 serous cystadenomas, 10 solid-pseudopapillary neoplasms, 12 mucinous cystic neoplasms, and 96 intraductal papillary mucinous neoplasms). Cyst fluid was analyzed to identify subtle mutations in genes known to be mutated in pancreatic cysts (BRAF, CDKN2A, CTNNB1, GNAS, KRAS, NRAS, PIK3CA, RNF43, SMAD4, TP53 and VHL); to identify loss of heterozygozity at CDKN2A, RNF43, SMAD4, TP53, and VHL tumor suppressor loci; and to identify aneuploidy. The analyses were performed using specialized technologies for implementing and interpreting massively parallel sequencing data acquisition. An algorithm was used to select markers that could classify cyst type and grade. The accuracy of the molecular markers were compared with that of clinical markers, and a combination of molecular and clinical markers. Results We identified molecular markers and clinical features that classified cyst type with 90%–100% sensitivity and 92%–98% specificity. The molecular marker panel correctly identified 67 of the 74 patients who did not require surgery, and could therefore reduce the number of unnecessary operations by 91%. Conclusions We identified a panel of molecular markers and clinical features that show promise for the accurate classification of cystic neoplasms of the pancreas and identification of cysts that require surgery. PMID:26253305

  9. Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions

    PubMed Central

    Ashley, Claire N.; Hoang, Kelly D.; Lynch, David R.; Perlman, Susan L.; Maria, Bernard L.

    2013-01-01

    Childhood ataxia is characterized by impaired balance and coordination primarily due to cerebellar dysfunction. Friedreich ataxia, a form of childhood ataxia, is the most common multisystem autosomal recessive disease. Most of these patients are homozygous for the GAA repeat expansion located on the first intron of the frataxin gene on chromosome 9. Mutations in the frataxin gene impair mitochondrial function, increase reactive oxygen species, and trigger redistribution of iron in the mitochondria and cytosol. Targeted therapies for Friedreich ataxia are undergoing testing. In addition, a centralized database, patient registry, and natural history study have been launched to support clinical trials in Friedreich ataxia. The 2011 Neurobiology of Disease in Children symposium, held in conjunction with the 40th annual Child Neurology Society meeting, aimed to (1) describe clinical features surrounding Friedreich ataxia, including cardiomyopathy and genetics; (2) discuss recent advances in the understanding of the pathogenesis of Friedreich ataxia and developments of clinical trials; (3) review new investigations of characteristic symptoms; (4) establish clinical and biochemical overlaps in neurodegenerative diseases and possible directions for future basic, translational, and clinical studies. PMID:22859693

  10. Heterogeneity of clinical features and corresponding antibodies in seven patients with anti-NMDA receptor encephalitis.

    PubMed

    Sühs, Kurt-Wolfram; Wegner, Florian; Skripuletz, Thomas; Trebst, Corinna; Tayeb, Said Ben; Raab, Peter; Stangel, Martin

    2015-10-01

    Anti-N-methyl D-aspartate (NMDA) receptor encephalitis is the most common type of encephalitis in the spectrum of autoimmune encephalitis defined by antibodies targeting neuronal surface antigens. In the present study, the clinical spectrum of this disease is presented using instructive cases in correlation with the anti-NMDA receptor antibody titers in the cerebrospinal fluid (CSF) and serum. A total of 7 female patients admitted to the hospital of Hannover Medical School (Hannover, Germany) between 2008 and 2014 were diagnosed with anti-NMDA receptor encephalitis. Among these patients, 3 cases were selected to illustrate the range of similar and distinct clinical features across the spectrum of the disease and to compare anti-NMDA antibody levels throughout the disease course. All patients received immunosuppressive treatment with methylprednisolone, intravenous immunoglobulin and/or plasmapheresis, followed in the majority of patients by second-line therapy with rituximab and cyclophosphamide. The disease course correlated with NMDA receptor antibody titers, and to a greater extent with the ratio between antibody titer and protein concentration. A favorable clinical outcome with a modified Rankin Scale (mRS) score of ≤1 was achieved in 4 patients, 1 patient had an mRS score of 2 after 3 months of observation only, whereas 2 patients remained severely impaired (mRS score 4). Early and aggressive immunosuppressive treatment appears to support a good clinical outcome; however, the clinical signs and symptoms differ distinctively and treatment decisions have to be made on an individual basis.

  11. Molecular epidemiology of norovirus in South Korea.

    PubMed

    Lee, Sung-Geun; Cho, Han-Gil; Paik, Soon-Young

    2015-02-01

    Norovirus is a major cause of viral gastroenteritis and a common cause of foodborne and waterborne outbreaks. Norovirus outbreaks are responsible for economic losses, most notably to the public health and food industry field. Norovirus has characteristics such as low infectious dose, prolonged shedding period, strong stability, great diversity, and frequent genome mutations. Besides these characteristics, they are known for rapid and extensive spread in closed settings such as hospitals, hotels, and schools. Norovirus is well known as a major agent of food-poisoning in diverse settings in South Korea. For these reasons, nationwide surveillance for norovirus is active in both clinical and environmental settings in South Korea. Recent studies have reported the emergence of variants and novel recombinants of norovirus. In this review, we summarized studies on the molecular epidemiology and nationwide surveillance of norovirus in South Korea. This review will provide information for vaccine development and prediction of new emerging variants of norovirus in South Korea.

  12. Association of systemic lupus erythematosus clinical features with European population genetic substructure.

    PubMed

    Alonso-Perez, Elisa; Suarez-Gestal, Marian; Calaza, Manuel; Witte, Torsten; Papasteriades, Chryssa; Marchini, Maurizio; Migliaresi, Sergio; Kovacs, Attila; Ordi-Ros, Josep; Bijl, Marc; Santos, Maria Jose; Ruzickova, Sarka; Pullmann, Rudolf; Carreira, Patricia; Skopouli, Fotini N; D'Alfonso, Sandra; Sebastiani, Gian Domenico; Suarez, Ana; Blanco, Francisco J; Gomez-Reino, Juan J; Gonzalez, Antonio

    2011-01-01

    Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P = 6.8×10(-4)), oral ulcers (P = 6.9×10(-4)) and photosensitivity (P = 0.002). Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested.

  13. Clinical features and diagnosis of adult atopic keratoconjunctivitis and the effect of treatment with sodium cromoglycate.

    PubMed Central

    Jay, J L

    1981-01-01

    This study describes 17 cases of atopic keratoconjunctivitis in adults. In 8 cases the clinical appearances were nonspecific and sufficiently different from vernal keratoconjunctivitis to make diagnosis difficult. These atypical cases often showed a fine papillary conjunctival reaction on the upper tarsus, subconjunctival scarring, and in 1 case severe symblepharon. Corneal features included corneal microcysts, peripheral vascularisation, and various patterns of punctate epithelial keratitis. It was therefore important to establish the atopic status of the patient. A personal or family history of other atopic disease was elicited in every case, and the diagnosis was confirmed by the detection of raised serum IgE level. Uncontrolled clinical assessment suggested that 10 out of 15 patients experienced improvement in symptoms with the use of 2% sodium cromoglycate eyedrops 4 times a day. A subsequent double-masked cross-over trial comparing the same treatment with a matched placebo preparation indicated that 6 out of 9 patients preferred sodium cromoglycate while 1 preferred the placebo. Two patients noted no difference. Cases showing nonspecific or atypical clinical features responded to treatment just as frequently as did cases of typical vernal keratoconjunctivitis. Images PMID:6788069

  14. Comparison of clinical features between primary and drug-induced sleep-related eating disorder

    PubMed Central

    Komada, Yoko; Takaesu, Yoshikazu; Matsui, Kentaro; Nakamura, Masaki; Nishida, Shingo; Kanno, Meri; Usui, Akira; Inoue, Yuichi

    2016-01-01

    Purpose The aim of this study was to ascertain the clinical characteristics of drug-induced sleep-related eating disorder (SRED). Patients and methods We retrospectively reviewed the medical records of 30 patients with primary SRED (without any comorbid sleep disorders and who were not taking any possible causative medications), and ten patients with drug-induced SRED (occurrence of SRED episodes after starting nightly medication of sedative drugs, which completely resolved after dose reduction or discontinuation of the sedatives). Results All patients with drug-induced SRED took multiple types of sedatives, such as benzodiazepines or benzodiazepine receptor agonists. Clinical features of drug-induced SRED compared with primary SRED were as follows: higher mean age of onset (40 years old in drug-induced SRED vs 26 years old in primary SRED), significantly higher rate of patients who had total amnesia during most of their SRED episodes (75.0% vs 31.8%), significantly lower rate of comorbidity of night eating syndrome (0% vs 63.3%), and significantly lower rate of history of sleepwalking (10.0% vs 46.7%). Increased doses of benzodiazepine receptor agonists may be responsible for drug-induced SRED. Conclusion The clinical features of drug-induced SRED were different from those of primary SRED, possibly reflecting differences in the underlying mechanisms between these two categories of SREDs. PMID:27307740

  15. Orbital Myositis: Evaluating Five New Cases Regarding Clinical and Radiological Features

    PubMed Central

    ÖNDER, Özlem; BİLGİN, Rıfat Reha; KÖŞKDERELİOĞLU, Aslı; GEDİZLİOĞLU, Muhteşem

    2016-01-01

    Orbital myositis (OM) is an inflammatory disorder of the extraocular muscles. The signs and symptoms of OM are periorbital pain, eyelid swelling and redness, restricted ocular motility, and strabismus. There are at least two major forms, described by Benedikt GH Schoser, a limited oligosymptomatic ocular myositis (LOOM), which is associated with conjunctival injection only, and severe exophthalmic ocular myositis (SEOM), which presents with additional ptosis, chemosis, and proptosis. We report the clinical and radiological features of five patients with OM who were recently followed in our clinic. Three patients, one man and two women, were placed in the LOOM group, and the other two patients, both women, were in the SEOM group. In both groups, the initial complaints were pain worsening with eye movements and double vision, with only one patient in the SEOM group having pain worsening secondary to Crohn’s disease. The most affected muscles were the medial and lateral recti. All the patients were treated with corticosteroids, resulting in rapid improvement. Only one patient in the SEOM group experienced a relapse. Orbital magnetic resonance imaging of all the patients revealed enlargement and contrast enhancement of the involved muscles. Although clinical and radiological features are quite consistent, delayed diagnosis in some patients demonstrates the importance of the awareness of OM. PMID:28360792

  16. Association of Clinical and Radiographic Features with Perinephric “Sticky” Fat

    PubMed Central

    Qiong, Han; Crispen, Paul L.; Venkatesh, Ramakrishna; Strup, Stephen E.

    2013-01-01

    Abstract Background and Purpose The discovery of thick, adherent, perinephric sticky fat (PSF) is relatively common during open or laparoscopic retroperitoneal surgery. To our knowledge, however, there has been no previous analysis of clinical or radiographic features associated with the development of PSF or of perioperative outcomes for those patients in whom it is found. Our objective is to analyze potential predictive features and determine whether there is any effect on clinical or pathologic outcomes for patients with perinephric sticky fat. Patients and Methods Patients undergoing partial nephrectomy or laparoscopic cryoablation with available preoperative imaging were identified from 2005 to 2011. Operative records were reviewed to identify patients with and without PSF. Preoperative images and medical records were examined to obtain patient data regarding potential predictors as well as clinical and pathologic outcomes. Results A total of 29 patients were identified—16 with PSF and 13 controls. Statistically significant factors associated with PSF included sex, tumor size, presence of perinephric stranding, tumor >50% exophytic, and thickness of perinephric fat (P<0.05). Median total operative time for patients with sticky fat was nearly 40 minutes longer than the control group (228 min vs 190 min, P<0.05). All four (17%) patients with Fuhrman grade 3 or 4 renal-cell carcinoma were from the sticky fat group (P=0.09). Conclusions Despite the small sample size, multiple possible factors associated with perinephric sticky fat were identified and may provide guidance for future investigation of this phenomenon. PMID:22966767

  17. Update on Merkel Cell Carcinoma: Epidemiology, Etiopathogenesis, Clinical Features, Diagnosis, and Staging.

    PubMed

    Llombart, B; Requena, C; Cruz, J

    2017-03-01

    Merkel cell carcinoma (MCC) is a rare, highly aggressive tumor, and local or regional disease recurrence is common, as is metastasis. MCC usually develops in sun-exposed skin in patients of advanced age. Its incidence has risen 4-fold in recent decades as the population has aged and immunohistochemical techniques have led to more diagnoses. The pathogenesis of MCC remains unclear but UV radiation, immunosuppression, and the presence of Merkel cell polyomavirus in the tumor genome seem to play key roles. This review seeks to update our understanding of the epidemiology, etiology, pathogenesis, and clinical features of MCC. We also review histologic and immunohistochemical features required for diagnosis. MCC staging is discussed, given its great importance in establishing a prognosis for these patients.

  18. Assessment of Correlation between Sweat Chloride Levels and Clinical Features of Cystic Fibrosis Patients

    PubMed Central

    Raina, Manzoor A.; Khan, Mosin S.; Malik, Showkat A.; Raina, AB Hameed; Makhdoomi, Mudassir J.; Bhat, Javed I.

    2016-01-01

    Introduction Cystic Fibrosis (CF) is an autosomal recessive disorder and the incidence of this disease is undermined in Northern India. The distinguishable salty character of the sweat belonging to individuals suffering from CF makes sweat chloride estimation essential for diagnosis of CF disease. Aim The aim of this prospective study was to elucidate the relationship of sweat chloride levels with clinical features and pattern of CF. Materials and Methods A total of 182 patients, with clinical features of CF were included in this study for quantitative measurement of sweat chloride. Sweat stimulation and collection involved pilocarpine iontophoresis based on the Gibson and Cooks methodology. The quantitative estimation of chloride was done by Schales and Schales method with some modifications. Cystic Fibrosis Trans Membrane Conductance Regulator (CFTR) mutation status was recorded in case of patients with borderline sweat chloride levels to correlate the results and for follow-up. Results Out of 182 patients having clinical features consistent with CF, borderline and elevated sweat chloride levels were present in 9 (5%) and 41 (22.5%) subjects respectively. Elevated sweat chloride levels were significantly associated with wheeze, Failure To Thrive (FTT), history of CF in Siblings, product of Consanguineous Marriage (CM), digital clubbing and steatorrhoea on univariate analysis. On multivariate analysis only wheeze, FTT and steatorrhoea were found to be significantly associated with elevated sweat chloride levels (p<0.05). Among the nine borderline cases six cases were positive for at least two CFTR mutations and rest of the three cases were not having any mutation in CFTR gene. Conclusion The diagnosis is often delayed and the disease is advanced in most patients at the time of diagnosis. Sweat testing is a gold standard for diagnosis of CF patients as genetic mutation profile being heterozygous and unlikely to become diagnostic test. PMID:28208841

  19. Outbreak of chikungunya in Johor Bahru, Malaysia: clinical and laboratory features of hospitalized patients.

    PubMed

    Chew, L P; Chua, H H

    2009-09-01

    In 2008, an outbreak of chikungunya infection occurred in Johor. We performed a retrospective review of all laboratory confirmed adult chikungunya cases admitted to Hospital Sultanah Aminah, Johor Bahru from April to August 2008, looking into clinical and laboratory features. A total of 18 laboratory confirmed cases of chikungunya were identified with patients presenting with fever, joint pain, rash and vomiting. Haemorrhagic signs were not seen. Lymphopenia, neutropenia, thrombocytopenia, raised liver enzymes and deranged coagulation profile were the prominent laboratory findings. We hope this study can help guide physician making a diagnosis of chikungunya against other arborviruses infection.

  20. Microbiological and Clinical Features of Four Cases of Catheter-Related Infection by Methylobacterium radiotolerans

    PubMed Central

    Li, Li; Tarrand, Jeffrey J.

    2015-01-01

    Four cases of central venous catheter-related Methylobacterium radiotolerans infection are presented here. The patients were all long-term catheter carriers with an underlying diagnosis of leukemia, and they mostly manifested fevers. The isolated bacterial strains all showed far better growth on buffered charcoal yeast extract agar during the initial isolation and/or subcultures than they did on sheep blood or chocolate agar. This microbiological feature may improve the culture recovery of this fastidious pink Gram-negative bacillus that has rarely been isolated in clinical microbiology laboratories. PMID:25631797

  1. Comparison of clinical and biologic features of Kingella kingae and Staphylococcus aureus arthritis at initial evaluation.

    PubMed

    Basmaci, Romain; Lorrot, Mathie; Bidet, Philippe; Doit, Catherine; Vitoux, Christine; Penneçot, Georges; Mazda, Keyvan; Bingen, Edouard; Ilharreborde, Brice; Bonacorsi, Stéphane

    2011-10-01

    We conducted a retrospective study comparing the presenting clinical and biologic features of 64 children who had septic arthritis caused by Kingella kingae with 26 children who had septic arthritis caused by Staphylococcus aureus. Children with K. kingae septic arthritis were significantly younger than those with S. aureus septic arthritis. Otherwise, there were no significant differences between the 2 groups with respect to fever, location, white blood cell count, synovial fluid cell count, C-reactive protein, or serum fibrinogen. However, the clinical course was significantly better for children with septic arthritis caused by K. kingae as evidenced by shorter hospitalization and fewer adverse events. Presumptive antibiotic therapy for septic arthritis in young infants should take into account both of these pathogens, even in case of mild presentation.

  2. Clinical features and associated abnormalities in children and adolescents with corpus callosal anomalies.

    PubMed

    Kim, Young Uhk; Park, Eun Sook; Jung, Soojin; Suh, Miri; Choi, Hyo Seon; Rha, Dong-Wook

    2014-02-01

    Callosal anomalies are frequently associated with other central nervous system (CNS) and/or somatic anomalies. We retrospectively analyzed the clinical features of corpus callosal agenesis/hypoplasia accompanying other CNS and/or somatic anomalies. We reviewed the imaging and clinical information of patients who underwent brain magnetic resonance imaging in our hospital, between 2005 and 2012. Callosal anomalies were isolated in 13 patients, accompanied by other CNS anomalies in 10 patients, associated with only non-CNS somatic anomalies in four patients, and with both CNS and non-CNS abnormalities in four patients. Out of 31 patients, four developed normally, without impairments in motor or cognitive functions. Five of nine patients with cerebral palsy were accompanied by other CNS and/or somatic anomalies, and showed worse Gross Motor Function Classification System scores, compared with the other four patients with isolated callosal anomaly. In addition, patients with other CNS anomalies also had a higher seizure risk.

  3. Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome.

    PubMed

    Graham, B H; Bacino, C A

    2003-06-01

    Turner syndrome is hypothesized to result from haplo-insufficiency of a gene or perhaps multiple genes present on the sex chromosomes; however, the frequent association of mosaicism with deletions of the sex chromosomes prevents establishing useful genotype/phenotype correlations. In this clinical report, we present a male with a de novo, non-mosaic deletion of the Y-chromosome. The phenotype of this patient is unlike any similar cases previously reported in the literature. This patient exhibits many classical clinical features of Turner syndrome including short stature, characteristic facial anomalies, and webbed neck with low posterior hairline, aortic valve abnormality, and hearing impairment. Detailed molecular characterization of this deleted Y-chromosome could provide important information towards establishing genotype/phenotype correlations in Turner syndrome.

  4. Clinical features of chronic granulomatous disease: a series of 26 patients from a single center.

    PubMed

    Turul-Ozgür, Tuba; Türkkani-Asal, Gülten; Tezcan, Ilhan; Köker, M Yavuz; Metin, Ayşe; Yel, Leman; Ersoy, Fügen; Sanal, Ozden

    2010-01-01

    Chronic granulomatous disease is a genetically determined immunodeficiency disorder affecting phagocytic cells rendering them unable to kill certain bacteria and fungi. The present study is a single-center retrospective study that aimed to document the clinical course of 26 children, with a median age of 2.5 years, from 21 families diagnosed as chronic granulomatous disease from 1989-2008. A median delay of 39 months was observed between the onset of infections and age at diagnosis. Pneumonia was the most common initial manifestation of the disease followed by lymphadenitis, skin abscess and diarrhea. An AR inheritance was predominant in the study group. All patients received antibacterial and antifungal prophylaxis, resulting in a marked decrease in the incidence of infections. Overall mortality was 19.2%. These results showed that all features in our group (clinical, progression and outcome) were similar to the literature except for the predominance of autosomal recessive form.

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

    PubMed

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

    2016-08-01

    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.

  6. 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

  7. Clinical, genetic, and neuroimaging features of Early Onset Alzheimer Disease: the challenges of diagnosis and treatment.

    PubMed

    Alberici, Antonella; Benussi, Alberto; Premi, Enrico; Borroni, Barbara; Padovani, Alessandro

    2014-01-01

    Early Onset Alzheimer Disease (EOAD) is a rare condition, frequently associated with genetic causes. The dissemination of genetic testing along with biomarker determinations have prompted a wider recognition of EOAD in experienced clinical settings. However, despite the great efforts in establishing the contribution of causative genes to EOAD, atypical disease presentation and clinical features still makes its diagnosis and treatment a challenge for the clinicians. This review aims to provide an extensive evaluation of literature data on EOAD, in order to improve understanding and knowledge of EOAD, underscore its significant impact on patients and their caregivers and influence public policies. This would be crucial to define the urgency of evidence-based treatment approaches.

  8. Wernicke's encephalopathy in a malnourished surgical patient: clinical features and magnetic resonance imaging.

    PubMed

    Nolli, M; Barbieri, A; Pinna, C; Pasetto, A; Nicosia, F

    2005-11-01

    We report a clinical and neuroradiological description of a severe case of Wernicke's encephalopathy in a surgical patient. After colonic surgery for neoplasm, he was treated for a long time with high glucose concentration total parenteral nutrition. In the early post-operative period, the patient showed severe encephalopathy with ataxia, ophthalmoplegia and consciousness disorders. We used magnetic resonance imaging (MRI) to confirm the clinical suspicion of Wernicke's encephalopathy. The radiological feature showed hyperintense lesions which were symmetrically distributed along the bulbo-pontine tegmentum, the tectum of the mid-brain, the periacqueductal grey substance, the hypothalamus and the medial periventricular parts of the thalamus. This progressed to typical Wernicke-Korsakoff syndrome with ataxia and memory and cognitive defects. Thiamine deficiency is a re-emerging problem in non-alcoholic patients and it may develop in surgical patients with risk factors such as malnutrition, prolonged vomiting and long-term high glucose concentration parenteral nutrition.

  9. Multiple system atrophy presenting as parkinsonism: clinical features and diagnostic criteria.

    PubMed Central

    Albanese, A; Colosimo, C; Bentivoglio, A R; Fenici, R; Melillo, G; Colosimo, C; Tonali, P

    1995-01-01

    To evaluate the possibility that parkinsonian signs may be the only presenting feature of multiple system atrophy (MSA), parkinsonian patients were studied who had no atypical clinical signs and had no symptoms of autonomic dysfunction, but who reported that they had not experienced the anticipated good response to dopaminergic treatment. These stringent criteria identified 20 patients from a series of 298 consecutive parkinsonian outpatients. The following clinical pointers were analysed: (a) rate of disease progression; (b) symmetry of parkinsonian symptoms and signs; (c) occurrence of resting tremor during the first three years from onset. In addition, all patients underwent (d) acute and chronic challenge with dopaminergic drugs; (e) cardiovascular reflex autonomic function tests; (f) high field MRI. Rapid progression of disease was seen in 45% of patients, onset was symmetric in 25%, tremor was absent at onset in 70%, response to dopaminergic drug challenges was inadequate in 40%, abnormal cardiovascular reflexes occurred in 50%, and some abnormal MRI finding occurred in 35% of cases. Each of these features was equally weighted by giving to each patient a 0 to 6 point score corresponding to the number of abnormal findings. Fifteen patients scoring higher than 1 were considered at risk for having MSA: five of them were classified as clinically possible (score 2), six as clinically probable (score 3-4), and four patients were classified as clinically definite multiple system atrophy (score 5). The six pointers considered were variably combined in each patient, none of them being universally abnormal in patients with high scores. The patients were followed up for a mean 2.1 (SEM 0.65) years. All but one of the 10 patients prospectively classified as probable or definite MSA developed unequivocal clinical signs of fully symptomatic MSA. A receiver operator characteristic cure was plotted for the prospective score based on follow up diagnosis. The best compromise

  10. Nation Building in Korea

    DTIC Science & Technology

    1995-04-01

    opportunity to rebuild South Korea . He saw it as “something almost unique in history. It is the opportunity of an army in a foreign land to contribute...problems. The North Korean invasion in 1950 wedded South Korea to the United States and confronted the United States with the enormous task of...elections in Korea .8 After failing to achieve agreement to peninsula-wide elections, the United Nations sponsored elections in South

  11. Clinical features of bacterial vaginosis in a murine model of vaginal infection with Gardnerella vaginalis.

    PubMed

    Gilbert, Nicole M; Lewis, Warren G; Lewis, Amanda L

    2013-01-01

    Bacterial vaginosis (BV) is a dysbiosis of the vaginal flora characterized by a shift from a Lactobacillus-dominant environment to a polymicrobial mixture including Actinobacteria and gram-negative bacilli. BV is a common vaginal condition in women and is associated with increased risk of sexually transmitted infection and adverse pregnancy outcomes such as preterm birth. Gardnerella vaginalis is one of the most frequently isolated bacterial species in BV. However, there has been much debate in the literature concerning the contribution of G. vaginalis to the etiology of BV, since it is also present in a significant proportion of healthy women. Here we present a new murine vaginal infection model with a clinical isolate of G. vaginalis. Our data demonstrate that this model displays key features used clinically to diagnose BV, including the presence of sialidase activity and exfoliated epithelial cells with adherent bacteria (reminiscent of clue cells). G. vaginalis was capable of ascending uterine infection, which correlated with the degree of vaginal infection and level of vaginal sialidase activity. The host response to G. vaginalis infection was characterized by robust vaginal epithelial cell exfoliation in the absence of histological inflammation. Our analyses of clinical specimens from women with BV revealed a measureable epithelial exfoliation response compared to women with normal flora, a phenotype that, to our knowledge, is measured here for the first time. The results of this study demonstrate that G. vaginalis is sufficient to cause BV phenotypes and suggest that this organism may contribute to BV etiology and associated complications. This is the first time vaginal infection by a BV associated bacterium in an animal has been shown to parallel the human disease with regard to clinical diagnostic features. Future studies with this model should facilitate investigation of important questions regarding BV etiology, pathogenesis and associated complications.

  12. Clinical Features of Patients with Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorders

    PubMed Central

    Chen, Hai; Liu, Shi-Meng; Zhang, Xu-Xiang; Liu, Ya-Ou; Li, Si-Zhao; Liu, Zheng; Dong, Hui-Qing

    2016-01-01

    Background: Neuromyelitis optica spectrum disorder (NMOSD) was long believed to be an aggressive form of multiple sclerosis (MS). This study aimed to describe the clinical features of patients with MS and NMOSD to assist in differential diagnoses in clinical practice. Methods: Data including the patients’ serum and cerebrospinal fluid (CSF) tests, image findings, and clinical information from 175 patients with MS or NMOSD at Xuanwu Hospital, Capital Medical University from November 2012 to May 2014 were collected and analyzed retrospectively. An enzyme-linked immunosorbent assay was performed to detect the myelin oligodendrocyte glycoprotein (MOG) autoantibodies in CSF and serum. Cell-based assays were used to detect aquaporin-4-antibody (AQP4-Ab). The Chi-square test was used to compare the categorical variables. Wilcoxon rank sum test was performed to analyze the continuous variables. Results: Totally 85 MS patients (49%) and 90 NMOSD patients (51%) were enrolled, including 124 (71%) women and 51 (29%) men. Fewer MS patients (6%) had autoimmune diseases compared to NMOSD (19%) (χ2 = 6.9, P < 0.01). Patients with NMOSD had higher Expanded Disability Status Scale scores (3.5 [3]) than MS group (2 [2]) (Z = −3.69, P < 0.01). The CSF levels of white cell count and protein in both two groups were slightly elevated than the normal range, without significant difference between each other. Positivity of serum AQP4-Ab in NMOSD patients was higher than that in MS patients (MS: 0, NMOSD: 67%; χ2 = 63.9, P < 0.01). Oligoclonal bands in CSF among NMOSD patients were remarkably lower than that among MS (MS: 59%, NMOSD: 20%; χ2 = 25.7, P < 0.01). No significant difference of MOG autoantibodies was found between the two groups. Conclusion: The different CSF features combined with clinical, magnetic resonance imaging, and serum characteristics between Chinese patients with MS and NMOSD could assist in the differential diagnosis. PMID:27569235

  13. Clinical, Pathologic, and Genetic Features of Wilms Tumors With WTX Gene Mutation.

    PubMed

    Alexandrescu, Sanda; Akhavanfard, Sara; Harris, Marian H; Vargas, Sara O

    2017-01-01

    Clinical and pathologic features of patients with WTX-mutated Wilms tumor (WT) have not been studied in detail. We characterize the clinical and pathologic findings in WT with WTX abnormalities and provide comparison with WT without WTX mutation. Clinical, gross, and microscopic features in 35 patients with WT were examined. Karyotype was examined in a subset of cases. All cases had been previously analyzed for WTX, WT1, and CTNNB1 aberrations via array comparative genomic hybridization; OncoMap 4 high throughput genotyping was performed on 18 cases. Eleven tumors had WTX abnormality. No significant differences were identified between patients with mutated versus nonmutated WTX with respect to gender (45% versus 33% male), age (mean 3.9 versus 4.1 years), tumor size (mean 12.7 cm versus 12.8 cm), anaplasia (9% versus 12%), rhabdomyoblastic differentiation (18% versus 8%), cartilage differentiation (9% versus 4%), mucinous epithelial differentiation (9% versus 4%), nephrogenic rests (28% versus 21%), or relapse rate (11% versus 25%). Mutations in KRAS, MYC, and PIK3R1 were restricted to WTX-mutated WT, mutations in AKT, CKDN2A, EFGR, HRAS, MET, and RET were restricted to WT without WTX mutation, and mutations in BRAF, CTTNB1, NRAS, PDGFRA, and STK11 were seen in both groups. Our study revealed no clinical or pathologic distinctions between WT with and without WTX abnormality. This similarity lends support to the concept of a common tumorigenic pathway between WT with aberrant WTX and those without.

  14. Comparison between type-2 and type-1 myocardial infarction: clinical features, treatment strategies and outcomes

    PubMed Central

    López-Cuenca, Angel; Gómez-Molina, Miriam; Flores-Blanco, Pedro J; Sánchez-Martínez, Marianela; García-Narbon, Andrea; De Las Heras-Gómez, Ignacio; Sánchez-Galian, María J; Guerrero-Pérez, Esther; Valdés, Mariano; Manzano-Fernández, Sergio

    2016-01-01

    Objective To assess the differences in incidence, clinical features, current treatment strategies and outcome in patients with type-2 vs. type-1 acute myocardial infarction (AMI). Methods We included 824 consecutive patients with a diagnosis of type-1 or type-2 AMI. During index hospitalization, clinical features and treatment strategies were collected in detail. At 1-year follow-up, mortality, stroke, non-fatal myocardial infarction and major bleeding were recorded. Results Type-1 AMI was present in 707 (86%) of the cases while 117 (14%) were classified as type-2. Patients with type-2 AMI were more frequently female and had higher co-morbidities such as diabetes, previous non-ST segment elevation acute coronary syndromes, impaired renal function, anaemia, atrial fibrillation and malignancy. However, preserved left ventricular ejection fraction and normal coronary arteries were more frequently seen, an invasive treatment was less common, and anti-platelet medications, statins and beta-blockers were less prescribed in patients with type-2 AMI. At 1-year follow-up, type-2 AMI was associated with a higher crude mortality risk (HR: 1.75, 95% CI: 1.14–2.68; P = 0.001), but this association did not remain significant after multivariable adjustment (P = 0.785). Furthermore, we did not find type-2 AMI to be associated with other clinical outcomes. Conclusions In this real-life population, compared with type-1, type-2 AMI were predominantly women and had more co-morbidities. Invasive treatment strategies and cardioprotective medications were less used in type-2, while the 1-year clinical outcomes were similar. PMID:26918008

  15. Differences in Clinical Characteristics between Patients with Non-Erosive Reflux Disease and Erosive Esophagitis in Korea

    PubMed Central

    Ha, Na Rae; Lee, Oh Young; Yoon, Byung Chul; Choi, Ho Soon; Hahm, Joon Soo; Ahn, You Hern; Koh, Dong Hee

    2010-01-01

    Gastroesophageal reflux disease (GERD) is caused by abnormal reflux of gastric contents into the esophagus. GERD can be divided into two groups, erosive esophagitis and non-erosive reflux disease (NERD). The aim of this study was to compare the clinical characteristics of patients with erosive esophagitis to those with NERD. All participating patients underwent an upper endoscopy during a voluntary health check-up. The NERD group consisted of 500 subjects with classic GERD symptoms in the absence of esophageal mucosal injury during upper endoscopy. The erosive esophagitis group consisted of 292 subjects with superficial esophageal erosions with or without typical symptoms of GERD. Among GERD patients, male gender, high body mass index, high obesity degree, high waist-to-hip ratio, high triglycerides, alcohol intake, smoking and the presence of a hiatal hernia were positively related to the development of erosive esophagitis compared to NERD. In multivariated analysis, male gender, waist-to-hip ratio and the presence of a hiatal hernia were the significant risk factors of erosive esophagitis. We suggest that erosive esophagitis was more closely related to abdominal obesity. PMID:20808675

  16. Epidemiological characteristics of genital herpes and condyloma acuminata in patients presenting to urologic and gynecologic clinics in Korea.

    PubMed

    Lee, Choong Bum; Choe, Hyun-Sop; Hwang, Seong-Jin; Lee, Seung-Ju; Cho, Yong-Hyun

    2011-06-01

    As viral sexually transmitted infections (STIs) are hard to cure completely and because they recur frequently, the management of patients and the prevention of the spread of viral STIs are important, rather than focusing on their treatment, unlike the focus for bacterial STIs. Thus, their prevalence and epidemiological characteristics should be investigated first. This study examined the prevalence of genital herpes and condyloma acuminata in patients visiting urologic and gynecologic clinics and evaluated the epidemiological characteristics of these diseases through questionnaire surveys. Out of 167,767 patients, 1,585 were reported to have genital herpes and condyloma acuminata, and the prevalences of the two diseases were 0.58 and 0.37%, respectively. The percentage of patients with viral STIs as a proportion of the total number of patients with STIs including bacterial STIs, was 35.6%. While the prevalence of genital herpes was relatively higher in middle-aged patients, that of condyloma acuminata was observed to be higher in relatively young patients. Among the patients participating in the questionnaire survey, 39.5 and 21.0% responded that they had experienced recurrence of genital herpes and condyloma acuminata, respectively. In conclusion, because the prevalences of genital herpes and condyloma acuminata as viral STIs were not trivial compared to that of bacterial STIs, and because of their frequent recurrence, policies adjusted to the characteristics of these viral STIs and more studies on the management of recurrence are necessary.

  17. Association of Genotyping of Bacillus cereus with Clinical Features of Post-Traumatic Endophthalmitis.

    PubMed

    Hong, Meng; Wang, Qian; Tang, Zhide; Wang, Youpei; Gu, Yunfeng; Lou, Yongliang; Zheng, Meiqin

    2016-01-01

    Bacillus cereus is the second most frequent cause of post-traumatic bacterial endophthalmitis. Although genotyping of B. cereus associated with gastrointestinal infections has been reported, little is known about the B. cereus clinical isolates associated with post-traumatic endophthalmitis. This is largely due to the limited number of clinical strains available isolated from infected tissues of patients with post-traumatic endophthalmitis. In this study, we report successful isolation of twenty-four B. cereus strains from individual patients with different disease severity of post-traumatic endophthalmitis. Phylogenetic analysis showed that all strains could be categorized into three genotypes (GTI, GTII and GTIII) and the clinical score showed significant differences among these groups. We then further performed genotyping using the vrrA gene, and evaluated possible correlation of genotype with the clinical features of B. cereus-caused post-traumatic endophthalmitis, and with the prognosis of infection by conducting follow-up with patients for up to 2 months. We found that the disease of onset and final vision acuity were significantly different among the three groups. These results suggested that the vrrA gene may play a significant role in the pathogenesis of endophthalmitis, and genotyping of B. cereus has the potential for predicting clinical manifestation and prognosis of endophthalmitis. To the best of our knowledge, this is the first report of isolation of large numbers of clinical isolates of B. cereus from patients with endophthalmitis. This work sets the foundation for future investigation of the pathogenesis endophthalmitis caused by B. cereus infection.

  18. Association of Genotyping of Bacillus cereus with Clinical Features of Post-Traumatic Endophthalmitis

    PubMed Central

    Hong, Meng; Wang, Qian; Tang, Zhide; Wang, Youpei; Gu, Yunfeng; Lou, Yongliang; Zheng, Meiqin

    2016-01-01

    Bacillus cereus is the second most frequent cause of post-traumatic bacterial endophthalmitis. Although genotyping of B. cereus associated with gastrointestinal infections has been reported, little is known about the B. cereus clinical isolates associated with post-traumatic endophthalmitis. This is largely due to the limited number of clinical strains available isolated from infected tissues of patients with post-traumatic endophthalmitis. In this study, we report successful isolation of twenty-four B. cereus strains from individual patients with different disease severity of post-traumatic endophthalmitis. Phylogenetic analysis showed that all strains could be categorized into three genotypes (GTI, GTII and GTIII) and the clinical score showed significant differences among these groups. We then further performed genotyping using the vrrA gene, and evaluated possible correlation of genotype with the clinical features of B. cereus–caused post-traumatic endophthalmitis, and with the prognosis of infection by conducting follow-up with patients for up to 2 months. We found that the disease of onset and final vision acuity were significantly different among the three groups. These results suggested that the vrrA gene may play a significant role in the pathogenesis of endophthalmitis, and genotyping of B. cereus has the potential for predicting clinical manifestation and prognosis of endophthalmitis. To the best of our knowledge, this is the first report of isolation of large numbers of clinical isolates of B. cereus from patients with endophthalmitis. This work sets the foundation for future investigation of the pathogenesis endophthalmitis caused by B. cereus infection. PMID:26886446

  19. Clinical outcomes and neurodevelopmental outcome of prenatally diagnosed agenesis of corpus callosum in single center of Korea

    PubMed Central

    Kim, Sung Eun; Jang, Hye-In; Chang, Kylie Hae-jin; Sung, Ji-Hee; Lee, Jiwon; Lee, Jeehun; Choi, Suk-Joo; Roh, Cheong-Rae; Kim, Jong-Hwa

    2017-01-01

    Objective With recent advances and frequent use of prenatal ultrasound, the antenatal diagnosis of agenesis of the corpus callosum (ACC) is not rare in obstetrics practices. However, information regarding the long-term neurological outcome remains uncertain. The aim of this study was to investigate clinical outcomes of prenatally diagnosed ACC and to analyze postnatal neurodevelopmental outcomes of ACC neonates born in our single center. Methods We retrospectively reviewed 56 cases of prenatally suspected ACC referred to our center. Results Fifty-six fetuses were diagnosed with ACC, and 12 of those were followed-up in our center until delivery. Of the remaining 44, 7 were delivered after being referred back to the original hospital, 23 were lost to follow-up, and 14 had unknown outcomes. Among all 56, 29 were considered to have isolated ACC and 27 were considered to have non-isolated ACC. Of the 10 live fetuses delivered in our center, four had isolated ACC, three had non-isolated ACC, and the rest had outcomes unrelated to ACC. Neurodevelopmental outcome was followed-up until approximately age 3 years. Of the four with isolated ACC, three (75%) had normal neurodevelopmental outcomes. Conclusion Similar to other studies, the results of our single-center study included positive neurodevelopmental outcomes for those with isolated ACC. However, despite our endeavor to counsel patients with prenatally diagnosed ACC, the delivery rate in our center was quite low. Therefore, larger, multicenter, retrospective studies including long-term neurological development outcomes are crucial and urgently needed to provide better counseling. PMID:28217666

  20. Familial deletion of 18p associated with Turner like clinical features

    SciTech Connect

    Say, B.; Gopal Rao, V.V.N.; Harris, S.

    1994-09-01

    The authors report the first occurrence to our knowledge of a familial deletion of the short arm of chromosome 18 in a mother and daughter. The proband is an 18-year-old female referred for chromosomal analysis because of mental retardation and short stature. She is the only offspring. Her birth weight was 3 pounds 10 ounces (below 5th percentile). As a child, she had delayed milestones. Her IQ is 69 and she is in classes for the educable mentally handicapped. Her height is 145.6 cm and weight 38.7 kg (both below 5th percentile). Physical examination revealed a low nuchal hairline. She has myopia. Chromosome analysis from peripheral blood lymphocytes revealed a 46,XX,del(18)(p11.21) karyotype. Since some of the same clinical features are also seen in the mother including short stature (157 cm), mental retardation, ocular problems like cataracts, exotropia and refractive error, chromosome analysis was performed which showed the same 46,XX,del(18)(p11.21) karyotype. A familial case like this has great implications in genetic counseling. Since the syndrome is not associated with sterility, the recurrence risk for the offspring is 50%. Patients with deletion (18p) syndrome are reported to have findings suggestive of Turner syndrome with varying degrees of mental retardation. We recommend that in patients with such clinical features associated with mental retardation, normal menstrual history and/or fertility, the possibility of deletion (18p) syndrome be considered.

  1. Cyclosporin A acute encephalopathy and seizure syndrome in childhood: clinical features and risk of seizure recurrence.

    PubMed

    Gleeson, J G; duPlessis, A J; Barnes, P D; Riviello, J J

    1998-07-01

    Cyclosporin A is associated with an acute encephalopathy including seizures and alterations in mental status, herein referred to as cyclosporin A acute encephalopathy and seizure syndrome. The clinical history, electroencephalogram (EEG), and neuroimaging findings in 19 children with cyclosporin A acute encephalopathy and seizure syndrome over a 10-year period were reviewed in order to delineate clinical characteristics, imaging features, and to determine the risk of seizure recurrence in this population. All 19 had motor seizures associated with other features of cortical and subcortical dysfunction. The acute mean cyclosporin A level was 342 microg/L, but was within the "therapeutic" range in five cases. Brain imaging by computed tomography (CT) or magnetic resonance imaging (MRI) in the acute or subacute phase revealed lesions characteristic of cyclosporin A toxicity in 14 cases. Acute EEG abnormalities were present in all and included epileptiform discharges or focal slowing. Patients were followed for a median of 49 months (1-9 years). Follow-up imaging (n = 10) showed lesion resolution or improvement in the majority while EEG (n = 10) had normalized in only three. Seizures recurred in six patients and only in those with persistent EEG or imaging abnormalities. No patient had a second episode of cyclosporin A associated neurotoxicity or seizure. It appears that a significant risk of seizure recurrence exists following cyclosporin A acute encephalopathy and seizure syndrome and primarily in those children with persistent EEG or imaging abnormalities.

  2. Cutaneous manifestations of antiphospholipid syndrome: a review of the clinical features, diagnosis and management.

    PubMed

    Pinto-Almeida, Teresa; Caetano, Mónica; Sanches, Madalena; Selores, Manuela

    2013-01-01

    Antiphospholipid syndrome is a relatively recent systemic autoimmune disorder defined by thrombotic events and/or obstetric complications in the presence of persistent elevated antiphospholipid antibodies. It\\'s characterized by a wide spectrum of clinical presentations and virtually any organ system or tissue may be affected by the consequences of vascular occlusion. Diagnosis is sometimes difficult and although classification criteria have been published and revised there remain ongoing issues regarding nomenclature, expanding clinical features, laboratory tests and management and much still has to be done. Cutaneous manifestations are common and frequently the first sign of the disease. Although extremely diverse it\\'s important to know which dermatological findings should prompt consideration of antiphospholipid syndrome and the appropriate management for those patients. Much has been debated about when to consider antiphospholipid syndrome and consensus still does not exist, however in spite of being a diagnostic challenge clinicians should know when to look for antiphospholipid antibodies since an early diagnosis is important to prevent further and serious complications. In this article we focus on the cutaneous features that should raise suspicion on the presence of antiphospholipid syndrome and on the complex management of such patients. Many other dermatological signs related to this syndrome have been described in the literature but only occasionally and without consistency or statistic impact and therefore will not be considered here.

  3. Clinical Features of Imported Loiasis: A Case Series from the Hospital for Tropical Diseases, London

    PubMed Central

    Saito, Makoto; Armstrong, Margaret; Boadi, Samuel; Lowe, Patricia; Chiodini, Peter L.; Doherty, Tom

    2015-01-01

    We retrospectively analyzed the background, clinical features, and treatment response of 50 cases of imported loiasis who presented between 2000 and 2014 to the Hospital for Tropical Diseases (HTD), London, United Kingdom. Of them, 29 were migrants from, and 21 were visitors to, countries where the disease is endemic. Clinical features differed between these groups. Migrants experienced fewer Calabar swellings (odds ratio [OR] = 0.12), more eye worm (OR = 3.4), more microfilaremia (OR = 3.5), lower filarial antibody levels, and lower eosinophil counts (P < 0.05 for all tests). Among 46 patients who were started on treatment at HTD, 33 (72%) received diethylcarbamazine (DEC) monotherapy as first-line treatment, and among 26 patients who were followed up after treatment, seven (27%) needed a second course of treatment. There were 46 courses of treatment with DEC, and 20 (43%) of them had reactions. All patients with microfilaremia > 3,000 microfilariae/mL and all those with an elevated C-reactive protein (CRP) (≥ 5 mg/L) before treatment had reactions (P = 0.10 and P = 0.01, respectively). These data suggest that monotherapy with DEC may not be the optimal treatment for patients with loiasis, particularly for those with a high microfilarial load. PMID:26101271

  4. Clinical and Polysomnographic Features of Kleine-Levin Syndrome: Case Series

    PubMed Central

    ERDEM, Murat; BOLU, Abdullah; GARİP, Beyazıt; KARAMAN, Dursun; YETKİN, Sinan

    2013-01-01

    Kleine-Levin Syndrome (KLS) is a rare disorder characterized intermittent hypersomnia, hyperphagia, hypersexuality, abnormal behaviors, and confusion. Patients are asymptomatic between episodes. The aim of this case series study was to determine the clinical features of patients with KLS and to compare the polysomnography (PSG) findings between symptomatic and asymptomatic periods. We compared the results of PSG investigations performed in symptomatic and asymptomatic periods in six patients diagnosed with KLS at Gulhane Military Medical Faculty Sleep Research Center between 1998 and 2005. The age at onset of KLS was approximately 18 years, the diagnosis delayed 2.67 years, hypersomnia episodes lasted approximately 11.5 days, until the correct diagnosis, the patients had experienced on average 5 episodes. Total sleep time in KLS patients during symptomatic period and stage 2 sleep percent was higher than in asymptomatic period. REM latency was shorter and stage 3 and REM percent was lower in asymptomatic period. The clinical features including the age of onset and episode duration are compatible with those from the previous studies. It was observed that the sleep architecture during symptomatic period was different from that in asymptomatic period.

  5. The catastrophic antiphospholipid syndrome, 1998. A review of the clinical features, possible pathogenesis and treatment.

    PubMed

    Asherson, R A

    1998-01-01

    A review of 50 patients who manifest features of the catastrophic antiphospholipid syndrome (CAPS) is presented. The clinical features comprise mainly organ involvement as opposed to large-vessel venous or arterial occlusions as is seen in patients with 'simple' antiphospholipid syndrome (APS), which makes the pathogenesis of this unusually rare complication perhaps somewhat different from that of patients with the APS. The mortality of the condition is 50%, most patients dying as a result of a combination of cardiac and respiratory failure. Fifteen patients (28%) suffered from disseminated intravascular coagulation (DIC) as well, which may have contributed to the multiorgan thrombotic microangiopathy characteristic of the CAPS. Although most patients were treated with high-dose i.v. steroids, heparin, cyclophosphamide and other modalities of therapy (such as i.v. globulin), plasmapheresis (advocated for TTP, a similar microangiopathic condition) seemed to offer some benefit (68% recovery). The systemic inflammatory response syndrome (SIRS) was responsible for some of the clinical manifestations such as adult respiratory distress syndrome (ARDS) seen in 15 patients. Pathogenesis of the CAPS seems dependent on a 'two-hit' or even 'three-hit' hypothesis in patients already suffering from a hypercoagulable state. Precipitating factors include infections, trauma (surgical), drug administration and warfarin withdrawal. A recent view that the multiple thrombotic lesions themselves may contribute to further thrombosis ('thrombotic storm') is also discussed.

  6. The associations between mast cell infiltration, clinical features and molecular types of invasive breast cancer

    PubMed Central

    Tang, Xiaoqiao; Zhang, Yifen; Huang, Tao

    2016-01-01

    Associations between mast cell infiltration and the clinical features and known molecular profile of breast cancer remain unclear. The distribution difference of mast cell was evaluated, in 219 patients with no special type of invasive carcinoma, using sorts of age, max diameter of cancer, histological type, lymph node metastasis as well as the expressions of estrogen receptor (ER), progestogen receptor (PR), human epidermal growth factor receptor 2 (HER-2) and nuclear protein Ki67. The mast cell density (MCD) in patients younger than 50 years old was significantly higher than that in patients with age ≥ 50. The MCD in ER or PR positive patients was significantly higher than MCD in ER or PR negative patients. The MCD in patients with Ki67 ≤ 14% was also significantly higher than MDC in patients with Ki67 > 14%. The MCD of patients with invasive ductal carcinoma was significantly higher than MCD of patients with invasive lobular carcinoma. No significant distribution difference of MCD was found to be associated with max diameter of cancer, lymph node metastasis and HER-2. Further analysis found that MDC was significantly higher in patients after neo-adjuvant chemotherapy. The distribution difference of mast cell widely exists in patients with distinct clinical features, the role of mast cell in breast cancer need further research with detailed and reasonable classification to clarify. PMID:27835573

  7. Clinical and laboratory features of 14 young Chinese probable sCJD patients.

    PubMed

    Shi, Qi; Xiao, Kang; Chen, Cao; Zhou, Wei; Gao, Chen; Wang, Jing; Zhang, Bao-Yun; Wang, Yuan; Dong, Xiao-Ping

    2017-03-09

    Sporadic Creutzfeldt-Jakob disease (sCJD) occurs frequently in the relatively older population, mainly in the groups of 60-69 and 70-79 year-old. Since 2006 when China performed national CJD surveillance, 14 young probable sCJD patients below 40 year-old were identified, counting for 1.93% of all probable sCJD cases. The clinical features of young probable sCJD cases, including the onset feature, the presence of sCJD-associated signs and the clinical duration, are indistinguishable from those of older patients. Special sCJD-associated abnormalities on EEG and MRI were noticed in 7 and 10 cases. CSF 14-3-3 was positive in 7 cases. CSF RT-QuIC showed positive reactive curves in 9 cases, with short lag phases. PRNP sequencing did not find any mutation. Due to low rate of brain autopsy in China, performances of other CJD-associated examinations as much as possible are extremely important for the distinguish diagnosis of young probable sCJD patients.

  8. Genotypic Profile of Streptococcus suis Serotype 2 and Clinical Features of Infection in Humans, Thailand

    PubMed Central

    Kerdsin, Anusak; Dejsirilert, Surang; Puangpatra, Parichart; Sripakdee, Saowalak; Chumla, Koranan; Boonkerd, Nitsara; Polwichai, Pitimol; Tanimura, Susumu; Takeuchi, Dan; Nakayama, Tatsuya; Nakamura, Shota; Akeda, Yukihiro; Gottschalk, Marcelo; Sawanpanyalert, Pathom

    2011-01-01

    To examine associations between clinical features of Streptococcus suis serotype 2 infections in humans in Thailand and genotypic profiles of isolates, we conducted a retrospective study during 2006–2008. Of 165 patients for whom bacterial cultures of blood, cerebrospinal fluid, or both were positive for S. suis serotype 2, the major multilocus sequence types (STs) found were ST1 (62.4%) and ST104 (25.5%); the latter is unique to Thailand. Clinical features were examined for 158 patients. Infections were sporadic; case-fatality rate for adults was 9.5%, primarily in northern Thailand. Disease incidence peaked during the rainy season. Disease was classified as meningitis (58.9%) or nonmeningitis (41.1%, and included sepsis [35.4%] and others [5.7%]). Although ST1 strains were significantly associated with the meningitis category (p<0.0001), ST104 strains were significantly associated with the nonmeningitis category (p<0.0001). The ST1 and ST104 strains are capable of causing sepsis, but only the ST1 strains commonly cause meningitis. PMID:21529392

  9. Epidemiological and Clinical Features of Severe Fever with Thrombocytopenia Syndrome in Japan, 2013–2014

    PubMed Central

    Shimada, Tomoe; Matsui, Tamano; Shimojima, Masayuki; Saijo, Masayuki; Oishi, Kazunori

    2016-01-01

    Although severe fever with thrombocytopenia syndrome (SFTS) was first reported from Japan in 2013, the precise clinical features and the risk factors for SFTS have not been fully investigated in Japan. Ninety-six cases of severe fever with thrombocytopenia syndrome (SFTS) were notified through the national surveillance system between April 2013 and September 2014 in Japan. All cases were from western Japan, and 82 cases (85%) had an onset between April and August. A retrospective observational study of the notified SFTS cases was conducted to identify the clinical features and laboratory findings during the same period. Of 96 notified cases, 49 (51%) were included in this study. Most case-patients were of advanced age (median age 78 years) and were retired or unemployed, or farmers. These case-patients had a history of outdoor activity within 2 weeks before the onset of illness. The median serum C-reactive protein concentration was slightly elevated at admission. Fungal infections such as invasive aspergilosis were found in 10% of these case-patients. Hemophagocytosis was observed in 15 of the 18 case-patients (83%) whose bone marrow samples were available. Fifteen cases were fatal, giving a case-fatality proportion of 31%. The proportion of neurological abnormalities and serum concentrations of lactate dehydrogenase and aspartate aminotransferase were significantly higher in the fatal cases than in the nonfatal cases during hospitalization. Appearance of neurological abnormality may be useful for predicting the prognosis in SFTS patients. PMID:27776187

  10. Demographic and clinical features of autoimmune thyroid disorder in Japanese patients with systemic sclerosis.

    PubMed

    Toki, Sayaka; Motegi, Sei-ichiro; Yamada, Kazuya; Uchiyama, Akihiko; Ishikawa, Osamu

    2014-12-01

    Autoimmune thyroid disorders (AITD) are characterized by the impairment of the thyroid gland as a result of systemic or organ-specific autoimmune disorders, and the presence of antithyroid autoantibodies, such as antithyroglobulin antibody (AbTg) and antithyroid peroxidase antibody (AbTPO). Several studies have reported the association of AITD with systemic sclerosis (SSc). However, none of those studies analyzed the association between AITD and skin sclerosis in SSc patients. The aim of this study was to examine the demographic and clinical features of SSc patients with AITD treated in our department. Of a total of 210 SSc patients, we identified 30 with AITD (14.3%), including 29 with Hashimoto's disease (13.8%) and one patient with Graves' disease (0.5%), indicating that hypothyroidism was more common among SSc patients with AITD. All patients with AITD were female, and anticentromere antibody positivity, the complication of Sjögren's syndrome, severe facial skin sclerosis and atrophy of the thyroid gland were significantly prevalent in SSc patients with AITD. SSc patients with such clinical features may be at high risk of AITD and require regular follow up of thyroid function including ultrasonography and the examination of serum hormone levels to start an early treatment.

  11. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

    PubMed

    Pierpont, Mary Ella M; 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

    2014-10-01

    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.

  12. 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

  13. Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

    PubMed Central

    Takahashi, Toshiaki; Aoki, Masashi; Suzuki, Naoki; Tateyama, Maki; Yaginuma, Chikako; Sato, Hitomi; Hayasaka, Miho; Sugawara, Hitomi; Ito, Mariko; Abe-Kondo, Emi; Shimakura, Naoko; Ibi, Tohru; Kuru, Satoshi; Wakayama, Tadashi; Sobue, Gen; Fujii, Naoki; Saito, Toshio; Matsumura, Tsuyoshi; Funakawa, Itaru; Mukai, Eiichiro; Kawanami, Toru; Morita, Mitsuya; Yamazaki, Mineo; Hasegawa, Takashi; Shimizu, Jun; Tsuji, Shoji; Kuzuhara, Shigeki; Tanaka, Hiroyasu; Yoshioka, Masaru; Konno, Hidehiko; Onodera, Hiroshi; Itoyama, Yasuto

    2013-01-01

    Objective and methods Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy. To reveal in detail the mutational and clinical features of LGMD2B in Japan, we observed 40 Japanese patients in 36 families with LGMD2B in whom dysferlin mutations were confirmed. Results and conclusions Three mutations (c.1566C>G, c.2997G>T and c.4497delT) were relatively more prevalent. The c.2997G>T mutation was associated with late onset, proximal dominant forms of dysferlinopathy, a high probability that muscle weakness started in an upper limb and lower serum creatine kinase (CK) levels. The clinical features of LGMD2B are as follows: (1) onset in the late teens or early adulthood, except patients homozygous for the c.2997G>T mutation; (2) lower limb weakness at onset; (3) distal change of lower limbs on muscle CT at an early stage; (4) impairment of lumbar erector spinal muscles on muscle CT at an early stage; (5) predominant involvement of proximal upper limbs; (6) preservation of function of the hands at late stage; (7) preservation of strength in neck muscles at late stage; (8) lack of facial weakness or dysphagia; (9) avoidance of scoliosis; (10) hyper-Ckaemia; (11) preservation of cardiac function; and (12) a tendency for respiratory function to decline with disease duration. It is important that the late onset phenotype is found with prevalent mutations. PMID:23243261

  14. Frequency and clinical features of patients who attempted suicide by Hara-Kiri in Japan.

    PubMed

    Kato, Koji; Kimoto, Keitaro; Kimoto, Kousuke; Takahashi, Yuki; Sato, Reiko; Matsumoto, Hideo

    2014-09-01

    Hara-kiri is a unique Japanese custom, primarily stemming from the manners and customs that a samurai held. The aim of the present study was to investigate the clinical features of individuals who attempted suicide by hara-kiri. We enrolled 647 patients who had attempted suicide. Clinical features were compared between those who had employed hara-kiri and those who had used other methods. 25 of the 647 subjects had attempted suicide by hara-kiri. The ratio of men to women and the proportion of patients with mood disorders were significantly higher in the hara-kiri group than in the other methods group. The average length of stay in either the hospital or in the intensive care unit was also longer in the hara-kiri group than in the other methods group. Hara-kiri is an original Japanese method of attempting suicide, and suicide attempts by hara-kiri may be aimed at maintaining a reputation or taking responsibility.

  15. Clinical, Pathological, and Molecular Features of Lung Adenocarcinomas with AXL Expression

    PubMed Central

    Suda, Kenichi; Shimizu, Shigeki; Sakai, Kazuko; Mizuuchi, Hiroshi; Tomizawa, Kenji; Takemoto, Toshiki; Nishio, Kazuto; Mitsudomi, Tetsuya

    2016-01-01

    The receptor tyrosine kinase AXL is a member of the Tyro3-Axl-Mer receptor tyrosine kinase subfamily. AXL affects several cellular functions, including growth and migration. AXL aberration is reportedly a marker for poor prognosis and treatment resistance in various cancers. In this study, we analyzed clinical, pathological, and molecular features of AXL expression in lung adenocarcinomas (LADs). We examined 161 LAD specimens from patients who underwent pulmonary resections. When AXL protein expression was quantified (0, 1+, 2+, 3+) according to immunohistochemical staining intensity, results were 0: 35%; 1+: 20%; 2+: 37%; and 3+: 7% for the 161 samples. AXL expression status did not correlate with clinical features, including smoking status and pathological stage. However, patients whose specimens showed strong AXL expression (3+) had markedly poorer prognoses than other groups (P = 0.0033). Strong AXL expression was also significantly associated with downregulation of E-cadherin (P = 0.025) and CD44 (P = 0.0010). In addition, 9 of 12 specimens with strong AXL expression had driver gene mutations (6 with EGFR, 2 with KRAS, 1 with ALK). In conclusion, we found that strong AXL expression in surgically resected LADs was a predictor of poor prognosis. LADs with strong AXL expression were characterized by mesenchymal status, higher expression of stem-cell-like markers, and frequent driver gene mutations. PMID:27100677

  16. Clinical, cytologic, and histologic features of a mammary micropapillary carcinoma in a dog.

    PubMed

    Salgado, Breno S; Monteiro, Lidianne N; Colodel, Márcia M; Figueiroa, Fernanda C; Soares, Luisa M; Nonogaki, Suely; Rocha, Rafael M; Rocha, Noeme S

    2013-09-01

    Mammary invasive micropapillary carcinoma is a rare variant of mammary carcinoma that was recently recognized in dogs. The cytologic features and biologic behavior of such neoplasms in dogs have not yet been widely discussed in the veterinary literature. We report the clinical, cytologic, and histologic features of a canine micropapillary carcinoma in a 13-year-old female mongrel dog. The mammary region presented with extreme local pain, severe edema and erythema, and multifocal epidermal ulceration, which is typical for an inflammatory mammary carcinoma. Fine-needle aspirates were highly cellular and consisted of individual cells and papillary cell clusters with characteristics of malignant epithelial cells. Histologic examination revealed neoplastic cells arranged in small papillae without fibrovascular cores, sometimes inside clear lymphatic spaces, indicating lymphovascular invasion. Regional lymph node evaluation revealed metastatic cells. Due to deteriorating clinical condition the dog was euthanatized 5 months after mastectomy. At necropsy, metastatic neoplastic mammary cells were found in popliteal and mediastinal lymph nodes, the right femoral biceps muscle, liver, heart, lungs, and urinary bladder.

  17. Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients

    PubMed Central

    Özmen, Meral; Dilber, Cengiz; Tatlı, Burak; Aydınlı, Nur; Çalışkan, Mine; Ekici, Barış

    2011-01-01

    Purpose: Mutations of the α-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. Materials and Methods: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty. Results: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations. Conclusions: Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients. PMID:22028529

  18. Gelastic seizures: incidence, clinical and EEG features in adult patients undergoing video-EEG telemetry.

    PubMed

    Kovac, Stjepana; Diehl, Beate; Wehner, Tim; Fois, Chiara; Toms, Nathan; Walker, Matthew C; Duncan, John S

    2015-01-01

    This study aimed to determine clinical features of adult patients with gelastic seizures recorded on video -electroencephalography (EEG) over a 5-year period. We screened video-EEG telemetry reports for the occurrence of the term "gelastic" seizures, and assessed the semiology, EEG features, and duration of those seizures. Gelastic seizures were identified in 19 (0.8%) of 2,446 admissions. The presumed epileptogenic zone was in the hypothalamus in one third of the cases, temporal lobe epilepsy was diagnosed in another third, and the remainder of the cases presenting with gelastic seizures were classified as frontal, parietal lobe epilepsy or remained undetermined or were multifocal. Gelastic seizures were embedded in a semiology, with part of the seizure showing features of automotor seizures. A small proportion of patients underwent epilepsy surgery. Outcome of epilepsy surgery was related to the underlying pathology; two patients with hippocampal sclerosis had good outcomes following temporal lobe resection and one of four patients with hypothalamic hamartomas undergoing gamma knife surgery had a good outcome.

  19. Biology, clinical, and hematologic features of acute megakaryoblastic leukemia in children.

    PubMed

    Paredes-Aguilera, Rogelio; Romero-Guzman, Lina; Lopez-Santiago, Norma; Trejo, Rosa Arana

    2003-06-01

    To assess the incidence, clinical features at presentation, hematologic, immunophenotypic, and cytogenetic characteristics of AMKL in children we prospectively studied 834 consecutive non selected children with newly diagnosed acute leukemia (AL) admitted to the Hematology Department at the Instituto Nacional de Pediatría (INP), Mexico, D.F. We found 682 cases (81.8%) with a typical ALL immunophenotype, and the remaining 152 (18.2%) were considered to have AML. In 29 of the 152 patients with AML studied, a diagnosis of AMKL was established. These 29 cases represented 19.1% of the cases of AML and 3.48% of the total cases of AL during the time span covered by the study. Twenty-four percent of the cases occurred in infants 2 years old or younger and 41.4% occurred in children 41 months of age or younger. In contrast, in only 18.6% of the patients with AML (M0-M6), the diagnosis was established before 42 months of age and in 17% before their second year of life. Clinical presentation was not strikingly different than that observed in patients with other types of AML, and the time interval from onset of symptoms to diagnosis was also similar, though in a small subset of patients, the clinical course was characterized by a chronic slowly progressive disorder extending over weeks or months resembling smoldering leukemia or chronic myelofibrosis with agnogenic myeloid metaplasia. Bone marrow (BM) fibrosis was a constant features in our patients; 75% of the patients studied showed this complication at the time of diagnosis. Some rather unusual findings in this study were intense skeletal pains from multiple osteolytic lesions, the presence of soft-tissue tumor, and the presence of cohesive scanty clusters of primitive-looking blast cells in BM aspirates. Several interesting cytogenetic findings in our study were t(1;22)(p13;q13) in a 14-year-old boy, t(9;22)(q34;q11) in one patient, and monosomy 7 in two patients. Another important finding in our study was the clinical

  20. Clinical Features of Adult/Adolescent Atopic Dermatitis and Chinese Criteria for Atopic Dermatitis

    PubMed Central

    Liu, Ping; Zhao, Yan; Mu, Zhang-Lei; Lu, Qian-Jin; Zhang, Li; Yao, Xu; Zheng, Min; Tang, Yi-Wen; Lu, Xin-Xiang; Xia, Xiu-Juan; Lin, You-Kun; Li, Yu-Zhen; Tu, Cai-Xia; Yao, Zhi-Rong; Xu, Jin-Hua; Li, Wei; Lai, Wei; Yang, Hui-Min; Xie, Hong-Fu; Han, Xiu-Ping; Xie, Zhi-Qiang; Nong, Xiang; Guo, Zai-Pei; Deng, Dan-Qi; Shi, Tong-Xin; Zhang, Jian-Zhong

    2016-01-01

    Background: Atopic dermatitis (AD) is an inflammatory skin disease characterized by chronic recurrent dermatitis with profound itching. Most patients have personal and/or family history of atopic diseases. Several criteria have been proposed for the diagnosis of AD. Although the clinical features of childhood AD have been widely studied, there has been less large-scale study on adult/adolescent AD. The aim of this study was to investigate the clinical features of adult/adolescent patients with chronic symmetrical eczema/AD and to propose Chinese diagnostic criteria for adult/adolescent AD. Methods: A hospital-based study was performed. Forty-two dermatological centers participated in this study. Adult and adolescent patients (12 years and over) with chronic symmetrical eczema or AD were included in this study. Questionnaires were completed by both patients and investigators. The valid questionnaires were analyzed using EpiData 3.1 and SPSS 17.0 software. Results: A total of 2662 valid questionnaires were collected (1369 male and 1293 female). Of all 2662 patients, 2062 (77.5%) patients had the disease after 12 years old, while only 600 (22.5%) patients had the disease before 12 years old, suggesting late-onset eczema/AD is common. Two thousand one hundred and thirty-nine (80.4%) patients had the disease for more than 6 months. One thousand one hundred and forty-four (43.0%) patients had a personal and/or family history of atopic diseases. One thousand five hundred and forty-eight (58.2%) patients had an elevated total serum IgE and/or eosinophilia and/or positive allergen-specific IgE. Based on these clinical and laboratory features, we proposed Chinese criteria for adult/adolescent AD. Of all 2662 patients, 60.3% were satisfied with our criteria, while only 48.2% satisfied with Hanifin Rajka criteria and 32.7% satisfied with Williams criteria, suggesting a good sensitivity of our criteria in adult/adolescent AD patients. Conclusion: Late-onset of eczema or AD is

  1. Tuberculous meningitis presenting with unusual clinical features in Nigerians: Two case reports

    PubMed Central

    Komolafe, Morenikeji A; Sunmonu, Taofiki A; Esan, Olufunmi A

    2008-01-01

    Background Tuberculous meningitis is common in developing countries and accounts for about 7.8% to 14% of all cases of tuberculosis in Nigeria. Case presentation Case 1 was a 17-year-old woman who presented with a 3-week history of weakness of the right upper and lower limbs, a 6-hour history of inability to speak and irrational behaviour. She had no remarkable past medical history. Physical examination revealed pyrexia (temperature of 38.2°C) and altered level of consciousness (Glasgow coma score = 7/15). The signs of meningeal irritation were present and she had anisocoria and right spastic hemiparesis. Other aspects of physical examination were normal. Laboratory investigations showed an elevated erythrocyte sedimentation rate, normal cerebrospinal fluid protein and reduced glucose. The brain computed tomography scan showed features in keeping with obstructive hydrocephalus and she was immediately commenced on antituberculous drugs, intravenous steroids and mannitol. She made a remarkable clinical recovery and was discharged home 6 weeks after admission. Case 2 was a 40-year-old man who presented with a 6-week history of headache and fever and a 2-week history of alteration in level of consciousness. There was no history of neck pain and/or stiffness, nausea or vomiting. He had no other remarkable past medical history. He had been placed on various intravenous antibiotics in private hospitals before presentation, with no clinical improvement. Physical examination showed a young man in a coma (Glasgow coma score = 4/15) and febrile (temperature of 38.5°C) with signs of meningeal irritation. The brain stem reflexes were impaired and he had spastic quadriparesis. Further physical examination was essentially normal. The cerebrospinal fluid analysis showed features in keeping with meningeal inflammation and he had a raised erythrocyte sedimentation rate. The brain computed tomography scan showed features in keeping with obstructive hydrocephalus. He was placed on

  2. [SOME CLINICAL AND CYTOKINE FEATURES OF THE CLINICAL COURSE OF RECURRENT RESPIRATORY SYSTEM DISEASES IN CHILDREN WITH THE TOXOCARIASIS INVASION].

    PubMed

    Dralova, A; Usachova, E

    2015-12-01

    The aim of the present study was to analyze clinical and cytokine features of recurrent respiratory system diseases in children with toxocariasis. 50 children aged 1 to 17 years (mean age - 10±5 years) with recurrent current of respiratory system disorders were studied. During the survey such clinical manifestations of the respiratory system disorders as obstructive bronchitis (50%), bronchial asthma (30%), pneumonia (10%) and laryngotracheitis (10%) have been revealed. Statistical analysis of the results was performed using the software package STATISTICA 6.1 (SNANSOFT). We have shown that the disorders of respiratory system in case of toxocariasis invasion often occur with severe intoxication and bronchial obstruction syndromes, temperature reaction, respiratory insufficiency and hepatomegaly. A prolonged course of the disease has been noted. "Inflammatory" indicators of general blood analysis, such as leukocytosis and increased of ESR have been recorded in patients with respiratory system disorders in children with T.canis infection significantly more often, significant "allergic" laboratory changes were in the form of eosinophilia. High average levels of pro-inflammatory IL-6, as well as low levels of IL 5 have been determined in children suffering from the respiratory system disorders and with toxocariasis invasion in the anamnesis. The obtained findings require further study.

  3. Heterogeneity of clinical features and corresponding antibodies in seven patients with anti-NMDA receptor encephalitis

    PubMed Central

    SÜHS, KURT-WOLFRAM; WEGNER, FLORIAN; SKRIPULETZ, THOMAS; TREBST, CORINNA; TAYEB, SAID BEN; RAAB, PETER; STANGEL, MARTIN

    2015-01-01

    Anti-N-methyl D-aspartate (NMDA) receptor encephalitis is the most common type of encephalitis in the spectrum of autoimmune encephalitis defined by antibodies targeting neuronal surface antigens. In the present study, the clinical spectrum of this disease is presented using instructive cases in correlation with the anti-NMDA receptor antibody titers in the cerebrospinal fluid (CSF) and serum. A total of 7 female patients admitted to the hospital of Hannover Medical School (Hannover, Germany) between 2008 and 2014 were diagnosed with anti-NMDA receptor encephalitis. Among these patients, 3 cases were selected to illustrate the range of similar and distinct clinical features across the spectrum of the disease and to compare anti-NMDA antibody levels throughout the disease course. All patients received immunosuppressive treatment with methylprednisolone, intravenous immunoglobulin and/or plasmapheresis, followed in the majority of patients by second-line therapy with rituximab and cyclophosphamide. The disease course correlated with NMDA receptor antibody titers, and to a greater extent with the ratio between antibody titer and protein concentration. A favorable clinical outcome with a modified Rankin Scale (mRS) score of ≤1 was achieved in 4 patients, 1 patient had an mRS score of 2 after 3 months of observation only, whereas 2 patients remained severely impaired (mRS score 4). Early and aggressive immunosuppressive treatment appears to support a good clinical outcome; however, the clinical signs and symptoms differ distinctively and treatment decisions have to be made on an individual basis. PMID:26622479

  4. Aberrant expression of DNA damage response proteins is associated with breast cancer subtype and clinical features

    PubMed Central

    Guler, Gulnur; Himmetoglu, Cigdem; Jimenez, Rafael E.; Geyer, Susan M.; Wang, Wenle P.; Costinean, Stefan; Pilarski, Robert T.; Morrison, Carl; Suren, Dinc; Liu, Jianhua; Chen, Jingchun; Kamal, Jyoti; Shapiro, Charles L.

    2013-01-01

    Landmark studies of the status of DNA damage checkpoints and associated repair functions in preneoplastic and neoplastic cells has focused attention on importance of these pathways in cancer development, and inhibitors of repair pathways are in clinical trials for treatment of triple negative breast cancer. Cancer heterogeneity suggests that specific cancer subtypes will have distinct mechanisms of DNA damage survival, dependent on biological context. In this study, status of DNA damage response (DDR)-associated proteins was examined in breast cancer subtypes in association with clinical features; 479 breast cancers were examined for expression of DDR proteins γH2AX, BRCA1, pChk2, and p53, DNA damage-sensitive tumor suppressors Fhit and Wwox, and Wwox-interacting proteins Ap2α, Ap2γ, ErbB4, and correlations among proteins, tumor subtypes, and clinical features were assessed. In a multivariable model, triple negative cancers showed significantly reduced Fhit and Wwox, increased p53 and Ap2γ protein expression, and were significantly more likely than other subtype tumors to exhibit aberrant expression of two or more DDR-associated proteins. Disease-free survival was associated with subtype, Fhit and membrane ErbB4 expression level and aberrant expression of multiple DDR-associated proteins. These results suggest that definition of specific DNA repair and checkpoint defects in subgroups of triple negative cancer might identify new treatment targets. Expression of Wwox and its interactor, ErbB4, was highly significantly reduced in metastatic tissues vs. matched primary tissues, suggesting that Wwox signal pathway loss contributes to lymph node metastasis, perhaps by allowing survival of tumor cells that have detached from basement membranes, as proposed for the role of Wwox in ovarian cancer spread. PMID:21069451

  5. The clinical and genetic features of COPD-asthma overlap syndrome.

    PubMed

    Hardin, Megan; Cho, Michael; McDonald, Merry-Lynn; Beaty, Terri; Ramsdell, Joe; Bhatt, Surya; van Beek, Edwin J R; Make, Barry J; Crapo, James D; Silverman, Edwin K; Hersh, Craig P

    2014-08-01

    Individuals with chronic obstructive pulmonary disease (COPD) and asthma are an important but poorly characterised group. The genetic determinants of COPD and asthma overlap have not been studied. The aim of this study was to identify clinical features and genetic risk factors for COPD and asthma overlap. Subjects were current or former smoking non-Hispanic whites or African-Americans with COPD. Overlap subjects reported a history of physician-diagnosed asthma before the age of 40 years. We compared clinical and radiographic features between COPD and overlap subjects. We performed genome-wide association studies (GWAS) in the non-Hispanic whites and African-American populations, and combined these results in a meta-analysis. More females and African-Americans reported a history of asthma. Overlap subjects had more severe and more frequent respiratory exacerbations, less emphysema and greater airway wall thickness compared to subjects with COPD alone. The non-Hispanic white GWAS identified single nucleotide polymorphisms in the genes CSMD1 (rs11779254, p=1.57 × 10(-6)) and SOX5 (rs59569785, p=1.61 × 10(-6)) and the meta-analysis identified single nucleotide polymorphisms in the gene GPR65 (rs6574978, p=1.18 × 10(-7)) associated with COPD and asthma overlap. Overlap subjects have more exacerbations, less emphysema and more airway disease for any degree of lung function impairment compared to COPD alone. We identified novel genetic variants associated with this syndrome. COPD and asthma overlap is an important syndrome and may require distinct clinical management.

  6. Demographic, clinical, and laboratory features of Turkish patients with late onset ankylosing spondylitis.

    PubMed

    Karaarslan, Ahmet; Yilmaz, Hatice; Aycan, Hakan; Orman, Mehmet; Kobak, Senol

    2015-07-22

    Ankylosing spondylitis (AS) is a chronic inflammatory disease, which typically begins in early decades of life with primarily axial joints involvement. This disease rarely affects patients older than 50 years of age. The aim of this study was to compare and evaluate the demographic, clinical, and laboratory features of late onset and early onset AS patients who were followed up in a single rheumatology center. A total of 339 patients who have been diagnosed with AS according to modified New York criteria were included in the study. The patients whose initial symptoms were observed after 50 years of age were accepted as late onset AS. Out of 339 patients, 27 (7.9%) were diagnosed as late onset AS and 312 (92.3%) patients were evaluated as early onset AS. Of 27 late onset patients, 10 were male and 17 were female. Delay in the diagnosis was 5.8 years for early onset AS, while it was 3.8 years for late onset AS (p = 0.001). Higher levels of acute phase reactants and more methotrexate (MTX) use were detected in early onset AS patients compared to late onset AS (p = 0.001, p = 0.007, respectively). Statistically, there was no difference between these two groups, with regard to disease clinical activity indexes, anthropometric measurement parameters, uveitis and peripheral joint involvement. In this study, we showed that early and late onset AS patients may present with different clinical, genetic, and laboratory features. Late onset AS patients are characterized with lower human leukocyte antigen-B27 sequence, less inflammatory sign, delayed diagnosis, and less MTX and anti-tumor necrosis factor alpha drug usage.

  7. Gambling disorder in financial markets: Clinical and treatment-related features

    PubMed Central

    Shin, Young-Chul; Choi, Sam-Wook; Ha, Juwon; Choi, Jung-Seok; Kim, Dai-Jin

    2015-01-01

    Background and Aims To date, few studies have examined the clinical manifestation of disordered gamblers in financial markets. This study examined the differences in the clinical and treatment-related features of gambling disorder between financial markets and horse races. Methods Subjects who met the DSM-IV criteria for pathological gambling (PG) and who sought treatment were assessed by retrospective chart review. One hundred forty-four subjects were included in this sample, which consisted of the following groups: financial markets (n = 45; 28.6%) and horse races (n = 99; 71.4%). Results Multiple similar manifestations were found between the groups, including severity of PG, age of PG onset, amounts of gambling debts, drinking days per week, depressive mood, duration of seeking treatment after the onset of PG, and treatment follow-up duration. However, disordered gamblers who invested in the financial market were significantly more likely to be educated (p = 0.003), live with their spouses (p = 0.007), have full-time jobs (p = 0.006), and they were more likely to participate in the first type of gambling than the horse races group (p<0.001). Furthermore, the financial markets group received the anti-craving medication less often than the horse races group (p = 0.04). Discussion and Conclusions: These findings suggest that disordered gamblers in financial markets show different socio-demographic, clinical and treatment-related features compared with the horse race gamblers, despite a similar severity of gambling disorder. Understanding these differential manifestations may provide insight into prevention and treatment development for specific types of gambling. PMID:26690619

  8. Safety of lumbar puncture in comatose children with clinical features of cerebral malaria

    PubMed Central

    Moxon, Christopher A.; Zhao, Lei; Li, Chenxi; Seydel, Karl B.; MacCormick, Ian J.; Diggle, Peter J.; Mallewa, Macpherson; Solomon, Tom; Beare, Nicholas A.; Glover, Simon J.; Harding, Simon P.; Lewallen, Susan; Kampondeni, Sam; Potchen, Michael J.; Taylor, Terrie E.

    2016-01-01

    Objective: We assessed the independent association of lumbar puncture (LP) and death in Malawian children admitted to the hospital with the clinical features of cerebral malaria (CM). Methods: This was a retrospective cohort study in Malawian children with clinical features of CM. Allocation to LP was nonrandom and was associated with severity of illness. Propensity score–based analyses were used to adjust for this bias and assess the independent association between LP and mortality. Results: Data were available for 1,075 children: 866 (80.6%) underwent LP and 209 (19.4%) did not. Unadjusted mortality rates were lower in children who underwent LP (15.3% vs 26.7% in the no-LP group) but differences in covariates between the 2 groups suggested bias in LP allocation. After propensity score matching, all covariates were balanced. Propensity score–based analyses showed no change in mortality rate associated with LP: by inverse probability weighting, the average risk reduction was 2.0% at 12 hours (95% confidence interval −1.5% to 5.5%, p = 0.27) and 1.7% during hospital admission (95% confidence interval −4.5% to 7.9%, p = 0.60). Undergoing LP did not change the risk of mortality in subanalyses of children with severe brain swelling on MRI or in those with papilledema. Conclusion: In comatose children with suspected CM who were clinically stable, we found no evidence that LP increases mortality, even in children with objective signs of raised intracranial pressure. PMID:27794112

  9. Clinical and molecular features of a TSH-secreting pituitary microadenoma.

    PubMed

    Usui, Takeshi; Izawa, Shoichiro; Sano, Toshiaki; Tagami, Tetsuya; Nagata, Daisuke; Shimatsu, Akira; Takahashi, Jun A; Naruse, Mitsuhide

    2005-01-01

    We describe a case of a thyroid stimulating hormone (TSH)-secreting pituitary microadenoma, and report the systematic gene expression profile of the surgically- removed tumor. A 50-year-old woman was referred to our hospital because she had high TSH, free-T4, and free-T3 levels, and a pituitary tumor that was visualized with magnetic resonance imaging. Her basal TSH level was high even after a high T3 loading dose, and increased following administration of thyroid releasing hormone (TRH) even after administration of a high dose of exogenous T3. Her clinical symptoms and peripheral markers for T3 were responsive to exogenous T3. There was no thyroid hormone receptor (TR) beta gene mutation. The patient was diagnosed with a TSH-secreting pituitary adenoma, and trans-sphenoid surgery was performed. The histologic features and immunophenotype were consistent with a TSH-secreting pituitary adenoma. Reverse transcription-polymerase chain reaction analysis of pituitary hormones, pituitary-specific transcription factors, receptors, and transcriptional cofactors of clinical significance was performed on the removed tumor. The tumor expressed TSH, growth hormone, prolactin, alpha-subunit, pituitary transcription factor-1 (pit-1) but not proopiomelanocortin (POMC), prophet of pit-1 (prop-1) and pituitary cell-restricted T box factor (Tpit). TRbeta and TRH-receptor gene expression was normal. Three steroid receptor coactivators (SRC)-1, SRC-2, and SRC-3 were expressed. Nuclear receptor corepressor (N-CoR)2 was absent in the tumor, whereas nuclear receptor corepressor (N-CoR1) was expressed. Somatostatin receptor type 1 expression was significantly decreased, whereas type 4 receptor was expressed, which are unusual characteristics for pituitary tumors. The gene expression pattern in the tumor might have a role in the clinical features of this case.

  10. 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.

  11. Estimation of T2* Relaxation Time of Breast Cancer: Correlation with Clinical, Imaging and Pathological Features

    PubMed Central

    Seo, Mirinae; Jahng, Geon-Ho; Sohn, Yu-Mee; Rhee, Sun Jung; Oh, Jang-Hoon; Won, Kyu-Yeoun

    2017-01-01

    Objective The purpose of this study was to estimate the T2* relaxation time in breast cancer, and to evaluate the association between the T2* value with clinical-imaging-pathological features of breast cancer. Materials and Methods Between January 2011 and July 2013, 107 consecutive women with 107 breast cancers underwent multi-echo T2*-weighted imaging on a 3T clinical magnetic resonance imaging system. The Student's t test and one-way analysis of variance were used to compare the T2* values of cancer for different groups, based on the clinical-imaging-pathological features. In addition, multiple linear regression analysis was performed to find independent predictive factors associated with the T2* values. Results Of the 107 breast cancers, 92 were invasive and 15 were ductal carcinoma in situ (DCIS). The mean T2* value of invasive cancers was significantly longer than that of DCIS (p = 0.029). Signal intensity on T2-weighted imaging (T2WI) and histologic grade of invasive breast cancers showed significant correlation with T2* relaxation time in univariate and multivariate analysis. Breast cancer groups with higher signal intensity on T2WI showed longer T2* relaxation time (p = 0.005). Cancer groups with higher histologic grade showed longer T2* relaxation time (p = 0.017). Conclusion The T2* value is significantly longer in invasive cancer than in DCIS. In invasive cancers, T2* relaxation time is significantly longer in higher histologic grades and high signal intensity on T2WI. Based on these preliminary data, quantitative T2* mapping has the potential to be useful in the characterization of breast cancer. PMID:28096732

  12. The clinical features of foreign body aspiration into the lower airway in geriatric patients

    PubMed Central

    Lin, Lianjun; Lv, Liping; Wang, Yuchuan; Zha, Xiankui; Tang, Fei; Liu, Xinmin

    2014-01-01

    Purpose To analyze the clinical features of foreign-body aspiration into the lower airway in geriatric patients. Patients and methods The clinical data of 17 geriatric patients with foreign-body aspiration were retrospectively analyzed and compared with 26 nongeriatric adult patients. The data were collected from Peking University First Hospital and Anhui Chest Hospital between January 2000 and June 2014. Results (1) In the geriatric group, the most common symptoms were cough and sputum (15 cases, 88%), dyspnea (six cases, 35%), and hemoptysis (four cases, 24%). Five patients (29%) in the geriatric group could supply the history of aspiration on their first visit to doctor, a smaller percentage than in the nongeriatric group (13 cases, 50%). Only three cases in the geriatric group were diagnosed definitely without delay. Another 14 cases were misdiagnosed as pneumonia or lung cancer, and the time of delayed diagnosis ranged from 1 month to 3 years. Complications due to delay in diagnosis included obstructive pneumonitis, atelectasis, lung abscess, and pleural effusion. (2) Chest computed tomography demonstrated the foreign body in three cases (21%) in the geriatric group, which was lower than the positive proportion of detection in the nongeriatric group (nine cases, 35%). The most common type of foreign body in the geriatric group was food, such as bone fragments (seven cases, 41%) and plants (seven cases, 41%), and the foreign body was most often lodged in the right bronchus tree (eleven cases, 65%), especially the right lower bronchus (seven cases, 41%). Flexible bronchoscopy removed the foreign body successfully in all patients. Conclusion The clinical features of foreign-body aspiration in geriatric patients are usually more obscure than in nongeriatric adults, which may lead to long delay in diagnosis. Flexible bronchoscopy is safe and useful for early diagnosis and effective management in geriatric patients. We suggest flexible bronchoscopy as the first

  13. Hymenoptera venom allergy in outdoor workers: Occupational exposure, clinical features and effects of allergen immunotherapy

    PubMed Central

    Toletone, Alessandra; Voltolini, Susanna; Passalacqua, Giovanni; Dini, Guglielmo; Bignardi, Donatella; Minale, Paola; Massa, Emanuela; Troise, Costantino; Durando, Paolo

    2017-01-01

    ABSTRACT Objectives. To describe (i) the clinical characteristics of workers, exposed to hymenoptera stings, with an ascertained diagnosis of Hymenoptera Venom Allergy (HVA), (ii) the specific role of occupational exposure, (iii) the effect of Venom Immunotherapy (VIT) in reducing the severity of allergic episodes in workers exposed to repeated stings of hymenoptera, and (iv) the management of the occupational consequences caused by allergic reactions due to hymenoptera stings. Methods. Between 2000 and 2013 an observational study, including patients referred to the regional reference hospital of Liguria, Italy, with an ascertained diagnosis of HVA and treated with VIT, was performed. A structured questionnaire was administered to all patients to investigate the occupational features of allergic reactions. These were graded according to standard systems in patients at the first episode, and after re-stings, during VIT. Results. One-hundred and 8four out of the 202 patients referred had a complete data set. In 32 (17.4%) patients, the allergic reaction occurred during work activities performed outdoor. Of these, 31.2% previously stung by hymenoptera at work, and receiving VIT, were re-stung during occupational activity. The grades of reaction developed under VIT treatment resulted clinically less severe than of those occurred at the first sting (p-value = 0.031). Conclusion. Our findings confirmed the clinical relevance of HVA, and described its occupational features in outdoor workers with sensitization, stressing the importance of an early identification and proper management of the professional categories recognized at high risk of hymenoptera stings. The Occupational Physician should be supported by other specialists to recommend appropriate diagnostic procedures and the prescription of VIT, which resulted an effective treatment for the prevention of episodes of severe reactions in workers with a proven HVA. PMID:27924689

  14. [Are clinical features derived from evidences and experiences outside of Japan applicable to clinical practices in Japan? Comparisons of results among studies conducted in US, Europe, Asian Countries and Japan].

    PubMed

    Kamada, Kyousuke

    2011-03-01

    Levetiracetam is an antiepileptic drug (AED) approved for the adjunctive treatment of partial seizures firstly in the US in 1999. In Japan, levetiracetam was approved for the adjunctive treatment of partial seizures. Accumulated evidences and experiences in US, Europe and Asian counties have indicated clinical features of levetiracetam (i.e., rapid onset of action, high efficacy and tolerability, no drug-drug interactions). One may ask whether the known clinical features are applicable to Japanese epilepsy patients with partial seizures. This article is aimed at answering such questions by reviewing published articles on effects of races onto pharmacokinetics and on efficacy and safety profiles shown in studies conducted in the US, Europe, Taiwan, China, Korea, Asian 6 countries and Japan, which allowed to compare the profiles across the different populations. Pharmacokinetic profiles were not different between Western and Japanese, and between Chinese and Western populations. The values of efficacy variables such as percentage (%) reduction of seizure frequency from baselines, 50% responder rate and seizure free rate at dose range of 1,000 mg-3,000 mg/d were similar across 4 open studies (Korea, 6 Asian countries, US, Europe and other western; % reduction: 43.2-52.3%, 50% responder rate: 43.6-57.9%, Seizure free rate: 16.2-20.2%). In the 6 placebo-controlled double blind studies (US, 2 Europe studies, China, Taiwan and Japan), the values of the efficacy variables of the levetiracetam arms (1,000 mg/d, 2,000 mg/d, 3,000 mg/d, 1,000-2,000 mg/d, 2,000-3,000 mg/d) were at least numerically superior to those of corresponding placebo arms even though the statistical significance was not obtained for all of the variables. The degrees of difference between the values of placebo and levetiracetam arms were within comparable ranges. These comparisons suggested levetiracetam would have similar efficacy and safety profiles in Japanese patients to those in the US, Europe, and

  15. The clinical and demographic features of dizziness related to general health among the Saudi population

    PubMed Central

    Al Saif, Amer; Al Senany, Samira

    2015-01-01

    [Purpose] The purpose of this study was to determine the validity, demographic features of the newly developed Amer Dizziness Diagnostic Scale (ADDS), provide differential diagnosis of the vestibular disorders, assist in the clinical research and practice activities of health workers as well as to understand the probability of the utilization of the ADDS as a first-line evaluation tool in general clinical practice. [Subjects and Methods] Two hundred subjects of various ages including both male and female patients with a history of vertigo and/or dizziness were included in the study and evaluated once using the ADDS. [Results] There were more female (59.5%) than male (49.5) patients in this study. Additionally, we found that most patients (64.4%) had a central mediated problem. In addition, the Amer Dizziness Diagnostic Scale has been found to have both a sensitivity and specificity of 96% that can adequately determine the possible diagnosis of vestibular disorders. [Conclusion] This study has demonstrated the validity of the ADDS scale, the predominance of female involvement related to supplementary medication, vitamin D deficiency, general lifestyle factors, and fluid retention, high sensitivity and specificity, provide differential diagnosis of vestibular disorders that could be used as a first-line evaluation tool in general clinics. PMID:26644673

  16. Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.

    PubMed

    Petry, Patrícia; Polli, Janaina B; Mattos, Vinícius F; Rosa, Rosana C M; Zen, Paulo R G; Graziadio, Carla; Paskulin, Giorgio A; Rosa, Rafael F M

    2013-06-01

    Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P<0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging.

  17. Predictive value of combined clinically diagnosed bruxism and occlusal features for TMJ pain.

    PubMed

    Manfredini, Daniele; Peretta, Redento; Guarda-Nardini, Luca; Ferronato, Giuseppe

    2010-04-01

    Several works showed a decreased role for occlusion in the etiology of temporomandibular disorders (TMD). Nonetheless, it may be hypothesized that occlusion acts as a modulator through which bruxism activities may cause damage to the stomatognathic structures. To test this hypothesis, a logistic regression model was created with the inclusion of clinically diagnosed bruxism and eight occlusal features as potential predictors for temporomandibular joint (TMJ) pain in a sample of 276 consecutive TMD patients. The final logit showed that the percentage of the total log likelihood for TMJ pain explained by the significant factors was small and amounted to 13.2%, with unacceptable levels of sensitivity (16.4%). The parameters overbite > or = 4 mm combined with clinically diagnosed bruxism [OR (odds ratio) 4.62], overjet > or = 5 mm (OR 2.83), and asymmetrical molar relationship combined with clinically diagnosed bruxism (OR 2.77) were those with the highest odds for disease, even though none of those values was significant with respect to confidence intervals. Thus, the hypothesis under evaluation has to be rejected. It is possible that future studies with a higher discriminatory power for the different bruxism activities might be indicated to get deeper into the analysis of the potential mechanisms through which occlusion may play a role, even if small, in the etiology of the different TMD.

  18. Clinical features and management of recurrent balanitis; association with atopy and genital washing.

    PubMed Central

    Birley, H D; Walker, M M; Luzzi, G A; Bell, R; Taylor-Robinson, D; Byrne, M; Renton, A M

    1993-01-01

    OBJECTIVE--To evaluate clinical features and diagnostic investigations in patients with recurrent or unresponsive balanitis in order to institute rational management. DESIGN--Forty-three patients presenting to a genitourinary medicine clinic with recurrent or persistent balanitis were studied. All patients were asked whether they had a history of atopic illness and about their practice of genital washing. All patients were investigated by taking a swab specimen from the preputial area for bacterial and viral culture and 30 underwent biopsy of the affected skin. Follow-up was between three and six months. SETTING--Outpatient genitourinary medicine clinic, St Mary's Hospital, London, UK. RESULTS--In 31 (72%) of the patients a diagnosis of irritant dermatitis was made. In comparison with the remaining patients, they had a greater lifetime incidence of atopic illness and more frequent daily genital washing with soap. For 28 (90%) of these patients, use of emollient creams and restriction of soap washing alone controlled symptoms satisfactorily. For the remaining 12 patients, a variety of diagnoses were made. Biopsy proved a well tolerated and diagnostic investigation, but the isolation of microbial pathogens from preputial swabs was irrelevant to management. CONCLUSION--A history of atopic illness and of the practice of penile washing are important aspects in the evaluation of patients with recurrent balanitis. Biopsy is an important investigation in the condition when it does not seem to be caused by irritant dermatitis. PMID:8244363

  19. Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis

    PubMed Central

    Broseus, Julien; Florensa, Lourdes; Zipperer, Esther; Schnittger, Susanne; Malcovati, Luca; Richebourg, Steven; Lippert, Eric; Cermak, Jaroslav; Evans, Jyoti; Mounier, Morgane; Raya, José Maria; Bailly, François; Gattermann, Norbert; Haferlach, Torsten; Garand, Richard; Allou, Kaoutar; Besses, Carlos; Germing, Ulrich; Haferlach, Claudia; Travaglino, Erica; Luno, Elisa; Pinan, Maria Angeles; Arenillas, Leonor; Rozman, Maria; Perez Sirvent, Maria Luz; Favre, Bernardine; Guy, Julien; Alonso, Esther; Ahwij, Nuhri; Jerez, Andrés; Hermouet, Sylvie; Maynadié, Marc; Cazzola, Mario; Girodon, François

    2012-01-01

    Background Refractory anemia with ring sideroblasts associated with marked thrombocytosis was proposed as a provisional entity in the 2001 World Health Organization classification of myeloid neoplasms and also in the 2008 version, but its existence as a single entity is contested. We wish to define the clinical features of this rare myelodysplastic/myeloproliferative neoplasm and to compare its clinical outcome with that of refractory anemia with ring sideroblasts and essential thrombocythemia. Design and Methods We conducted a collaborative retrospective study across Europe. Our database included 200 patients diagnosed with refractory anemia with ring sideroblasts and marked thrombocytosis. For each of these patients, each patient diagnosed with refractory anemia with ring sideroblasts was matched for age and sex. At the same time, a cohort of 454 patients with essential thrombocythemia was used to compare outcomes of the two diseases. Results In patients with refractory anemia with ring sideroblasts and marked thrombocytosis, depending on the Janus Kinase 2 V617F mutational status (positive or negative) or platelet threshold (over or below 600×109/L), no difference in survival was noted. However, these patients had shorter overall survival and leukemia-free survival with a lower risk of thrombotic complications than did patients with essential thrombocythemia (P<0.001) but better survival (P<0.001) and a higher risk of thrombosis (P=0.039) than patients with refractory anemia with ring sideroblasts. Conclusions The clinical course of refractory anemia with ring sideroblasts and marked thrombocytosis is better than that of refractory anemia with ring sideroblasts and worse than that of essential thrombocythemia. The higher risk of thrombotic events in this disorder suggests that anti-platelet therapy might be considered in this subset of patients. From a clinical point of view, it appears to be important to consider refractory anemia with ring sideroblasts and

  20. Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency

    PubMed Central

    Ouederni, Monia; Sanal, Ozden; Ikincioğullari, Aydan; Tezcan, Ilhan; Dogu, Figen; Sologuren, Ithaisa; Pedraza-Sánchez, Sigifredo; Keser, Melike; Tanir, Gonul; Nieuwhof, Chris; Colino, Elena; Kumararatne, Dinakantha; Levy, Jacov; Kutukculer, Necil; Aytekin, Caner; Herrera-Ramos, Estefanía; Bhatti, Micah; Karaca, Neslihan; Barbouche, Ridha; Broides, Arnon; Goudouris, Ekaterini; Franco, José Luis; Parvaneh, Nima; Reisli, Ismail; Strickler, Alexis; Shcherbina, Anna; Somer, Ayper; Segal, Anthony; Angel-Moreno, Alfonso; Lezana-Fernandez, José Luis; Bejaoui, Mohamed; Bobadilla-Del Valle, Miriam; Kachboura, Salem; Sentongo, Timothy; Ben-Mustapha, Imen; Bustamante, Jacinta; Picard, Capucine; Puel, Anne; Boisson-Dupuis, Stéphanie; Abel, Laurent; Casanova, Jean-Laurent; Rodríguez-Gallego, Carlos

    2014-01-01

    Background. Interleukin 12Rβ1 (IL-12Rβ1)–deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin 12–dependent interferon γ production. About 25% of patients also display mucocutaneous candidiasis, probably owing to impaired interleukin 23–dependent interleukin 17 immunity. The clinical features and outcome of candidiasis in these patients have not been described before, to our knowledge. We report here the clinical signs of candidiasis in 35 patients with IL-12Rβ1 deficiency. Results. Most (n = 71) of the 76 episodes of candidiasis were mucocutaneous. Isolated oropharyngeal candidiasis (OPC) was the most common presentation (59 episodes, 34 patients) and was recurrent or persistent in 26 patients. Esophageal candidiasis (n = 7) was associated with proven OPC in 2 episodes, and cutaneous candidiasis (n = 2) with OPC in 1 patient, whereas isolated vulvovaginal candidiasis (VVC; n = 3) was not. Five episodes of proven invasive candidiasis were documented in 4 patients; 1 of these episodes was community acquired in the absence of any other comorbid condition. The first episode of candidiasis occurred earlier in life (median age±standard deviation, 1.5 ± 7.87 years) than infections with environmental mycobacteria (4.29 ± 11.9 years), Mycobacterium tuberculosis (4 ± 3.12 years), or Salmonella species (4.58 ± 4.17 years) or other rare infections (3 ± 11.67 years). Candidiasis was the first documented infection in 19 of the 35 patients, despite the vaccination of 10 of these 19 patients with live bacille Calmette-Guérin. Conclusions. Patients who are deficient in IL-12Rβ1 may have candidiasis, usually mucocutaneous, which is frequently recurrent or persistent. Candidiasis may be the first clinical manifestation in these patients. PMID:24186907

  1. Identification of Clinical Features and Autoantibodies Associated With Calcinosis in Dermatomyositis

    PubMed Central

    Valenzuela, Antonia; Chung, Lorinda; Casciola-Rosen, Livia; Fiorentino, David

    2015-01-01

    IMPORTANCE Prior studies have estimated that up to 20% of adults with dermatomyositis (DM) have calcinosis, which can lead to significant morbidity. Identification of risk factors may provide a better understanding of the pathogenesis and ultimately therapy for this difficult clinical problem. Risk factors for calcinosis in adults with DM have not been extensively studied. OBJECTIVES To determine the prevalence of calcinosis and to identify associated clinical features in a cohort of extensively phenotyped adults with DM. DESIGN, SETTING, AND PARTICIPANTS A cross-sectional study of 126 patients diagnosed as having DM from January 1, 2006, through January 1, 2013, was performed. Patients were adults (≥18 years of age) attending the Stanford University Medical Center clinic. MAIN OUTCOMES AND MEASURES Calcinosis, defined as the presence of calcium deposition in the skin and subcutaneous tissues on physical examination. RESULTS Fourteen patients (11.1%) had calcinosis, with the extremities most commonly involved. Patients with vs those without calcinosis had a longer disease duration (median, 6.9 years; range, 2.4–18.1; vs median, 3.9 years; range, 0.2-19.2 years; P = .003) and more fingertip ulcers (50.0% vs 9.3%, P < .001). An association between calcinosis and both interstitial lung disease and anti–MDA-5 autoantibodies was identified, but this association did not persist in multivariate models that adjusted for fingertip ulcers. Fingertip ulcers and disease duration were strongly associated with calcinosis in all multivariate models, independent of the underlying autoantibody present. Autoantibodies to NXP-2 were associated with calcinosis (odds ratio, 15.52; 95% CI, 2.01-119.90), whereas anti–transcriptional intermediary factor 1-γ antibodies were protective (odds ratio, 0.2; 95% CI, 0.01-0.99) in multivariate analyses that adjusted for fingertip ulcers and other covariates. CONCLUSIONS AND RELEVANCE Calcinosis was a relatively uncommon clinical feature

  2. Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.

    PubMed

    Mutesa, Léon; Pierquin, Geneviève; Segers, Karin; Vanbellinghen, Jean François; Gahimbare, Laetitia; Bours, Vincent

    2008-10-01

    Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease that results from the expansion of an unstable trinucleotide CAG repeat encoding for a polyglutamine tract. In normal individuals, alleles contain between 14 and 31 CAG repeats, whereas the pathological alleles have more than 35 CAG repeats. The clinical phenotype of SCA2 includes a progressive cerebellar ataxia with additional features such as ophthalmoplegia, extra-pyramidal or pyramidal signs and peripheral neuropathy. We report a SCA2 large African family with several affected individuals. A major pathological allele carrying 43 CAG repeats was identified in the proband. To our knowledge, this is a first report of a SCA disorder described in Central African patients, thus indicating the need to consider this diagnosis in young African ataxic patients.

  3. [Clinical and pathomorphological features of chronic prostatitis in chemical industry workers].

    PubMed

    Neimark, A I; Kiptilov, A V; Lapiy, G A

    2015-12-01

    During periodic screening on the chemical industry, an increased incidence of chronic prostatitis in workers at sulfuric acid section was revealed. Detailed examination has revealed features of the clinical picture of the pathological process that develops in the prostate gland of workers exposed to harmful labor conditions. Complex pathomorphologic analysis of prostate biopsies of workers with chronic abacterial prostatitis found fundamental differences of morphological manifestations observed in other forms of chronic prostatitis. They include the prevalence of dystrophic and atrophic changes of glandular components with the presence of focuses of simple and small acinar atrophy, reduction of the microvasculature vessels, progressive fibrosis of the stroma with the phenomena of periglandular and perivascular sclerosis, as a rule, in the absence of inflammatory cell infiltration. Doppler ultrasound data indicated a change in hemodynamics, accompanied by a decrease in blood flow in the prostate gland.

  4. [Clinical and laboratory features of pheochromocytoma in a 52-year-old female patient].

    PubMed

    Aranguren, Otmara; Mora, Idania Teresa; Cardosa, Maritza; León, Olga; López, María Victoria; Portales, Ramón

    2014-04-22

    The article aims to describe the clinical and laboratory features of a female patient suffering from pheochromocytoma. The case is a 52-year-old female patient who presents to our healthcare center with high blood pressure, cold limbs, sweating, jitteriness, and episodes of oppressive chest pain that appear several times per day. She also reports fatigue and a 13-kilogram weight loss. The sonogram revealed a nodular image in the right adrenal gland that had low echogenicity and regular margins measuring 5 mm. The image was confirmed with a contrast-enhanced adrenal CAT scan. Urine vanillylmandelic acid levels were high and an adrenal biopsy confirmed a pheochromocytoma measuring 4.5 x 3.5 x 3 cm.

  5. Molecular biology of testicular germ cell tumors: unique features awaiting clinical application.

    PubMed

    Boublikova, Ludmila; Buchler, Tomas; Stary, Jan; Abrahamova, Jitka; Trka, Jan

    2014-03-01

    Testicular germ cell tumors (TGCTs) are the most common solid tumors in young adult men characterized by distinct biologic features and clinical behavior. Both genetic predispositions and environmental factors probably play a substantial role in their etiology. TGTCs arise from a malignant transformation of primordial germ cells in a process that starts prenatally, is often associated with a certain degree of gonadal dysgenesis, and involves the acquirement of several specific aberrations, including activation of SCF-CKIT, amplification of 12p with up-regulation of stem cell genes, and subsequent genetic and epigenetic alterations. Their embryonic and germ origin determines the unique sensitivity of TGCTs to platinum-based chemotherapy. Contrary to the vast majority of other malignancies, no molecular prognostic/predictive factors nor targeted therapy is available for patients with these tumors. This review summarizes the principal molecular characteristics of TGCTs that could represent a potential basis for development of novel diagnostic and treatment approaches.

  6. Heterotopic ossification: Pathophysiology, clinical features, and the role of radiotherapy for prophylaxis

    SciTech Connect

    Balboni, Tracy A.; Gobezie, Reuben; Mamon, Harvey J. . E-mail: hmamon@partners.org

    2006-08-01

    Heterotopic ossification (HO) is a benign condition of abnormal formation of bone in soft tissue. HO is frequently asymptomatic, though when it is more severe it typically manifests as decreased range of motion at a nearby joint. HO has been recognized to occur in three distinct contexts-trauma, neurologic injury, and genetic abnormalities. The etiology of HO is incompletely understood. A posited theory is that HO results from the presence of osteoprogenitor cells pathologically induced by an imbalance in local or systemic factors. Individuals at high risk for HO development frequently undergo prophylaxis to prevent HO formation. The two most commonly employed modalities for prophylaxis are nonsteroidal anti-inflammatory drugs and radiation therapy. This review discusses HO pathophysiology, clinical features, and the role of radiotherapy for prophylaxis.

  7. Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia.

    PubMed

    Hooper, Amanda J; Kurtkoti, Jagadeesh; Hamilton-Craig, Ian; Burnett, John R

    2014-07-01

    Hypertriglyceridaemia is a common biochemical abnormality that can be due to primary causes or, more commonly, secondary causes. Moderate hypertriglyceridaemia is a risk factor for cardiovascular disease and can develop into severe hypertriglyceridaemia which is a risk factor for acute pancreatitis. Familial chylomicronaemia is a rare autosomal recessive disorder, usually diagnosed in childhood and is characterized by marked hypertriglyceridaemia and biochemical deficiency of lipoprotein lipase (LPL), apolipoprotein (apo) C-II, homozygous (or compound heterozygous) gene mutations in LPL or more rarely, APOC2. Recently, loss-of-function mutations in the APOA5 gene have been reported in patients with severe hypertriglyceridaemia in whom LPL or APOC2 mutations were not found. We describe the clinical features and genetic analysis of three patients with severe hypertriglyceridaemia including novel mutations LPL c.464T>C (p.Leu155Pro) and APOA5 c.823C>T (p.Gln275*).

  8. Foreign Body Granulomas after the Use of Dermal Fillers: Pathophysiology, Clinical Appearance, Histologic Features, and Treatment

    PubMed Central

    Lee, Jeong Min

    2015-01-01

    A foreign body granuloma is a non-allergic chronic inflammatory reaction that is mainly composed of multinucleated giant cells. Foreign body granulomas may occur after the administration of any dermal filler. Factors such as the volume of the injection, impurities present in the fillers, and the physical properties of fillers affect granuloma formation. The formation of granulomas involves five phases: protein adsorption, macrophage adhesion, macrophage fusion, and crosstalk. The clinical and pathologic features of granulomas vary depending on the type of filler that causes them. Foreign body granulomas can be treated effectively with intralesional corticosteroid injections. Surgical excisions of granulomas tend to be incomplete because granulomas have ill-defined borders and moreover, surgical excisions may leave scars and deformities. PMID:25798398

  9. Clinical features and disability milestones in multiple system atrophy and progressive supranuclear palsy.

    PubMed

    Lee, Sang-Wook; Koh, Seong-Beom

    2012-10-01

    Multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) are an adult-onset progressive neurodegenerative disorder that are known to display diverse clinical features and disease progression. We aim to characterize the clinical features and disease progression in patients with MSA and PSP by using a number of relevant disability milestones in Koreans. Forty-one patients with MSA and 14 patients with PSP had been enrolled. The mean age at onset of MSA-C, MSA-P and PSP was 56.7 ± 7.8, 62.5 ± 8.0, 68.9 ± 6.1 years respectively. The most commonly reported symptom at disease onset is disequilibrium/dizziness in MSA-C, tremor in MSA-P and frequent falling in PSP. The mean duration of reaching milestones after disease onset in MSA-C were as followings: 20.8 (urinary incontinence), 22.9 (frequent falling), 27.8 (wheelchair bound), 31.8 (dysarthria) and 35.8 months (diagnosis). The mean duration of reaching milestones after disease onset were 22.0 (urinary incontinence), 32.6 (frequent falling and diagnosis), 41.2 (dysarthria), 61.4 months (wheelchair bound) in MSA-P and 16.8 (dysarthria), 21.6 (diagnosis), 21.7 (frequent falling), 24.0 months (wheel chair bound) in PSP. In the case of MSA, dizziness may occur for the first time. Thus, when the patient complains of non-specific dizziness, a follow-up examination to distinguish it from MSA can be helpful. There was a trend for patients with MSA-C to reach more disability milestones than in MSA-P and PSP before diagnosis. It may explain why patients with MSA-C are required more detail history taking and neurologic examination at an earlier stage.

  10. Clinical features of venous insufficiency and the risk of venous thrombosis in older people.

    PubMed

    Engbers, Marissa J; Karasu, Alev; Blom, Jeanet W; Cushman, Mary; Rosendaal, Frits R; van Hylckama Vlieg, Astrid

    2015-11-01

    Venous thrombosis is common in older age, with an incidence of 0·5-1% per year in those aged >70 years. Stasis of blood flow is an important contributor to the development of thrombosis and may be due to venous insufficiency in the legs. The risk of thrombosis associated with clinical features of venous insufficiency, i.e., varicose veins, leg ulcers and leg oedema, obtained with a standardized interview was assessed in the Age and Thrombosis Acquired and Genetic risk factors in the Elderly (AT-AGE) study. The AT-AGE study is a case-control study in individuals aged 70 years and older (401 cases with a first-time venous thrombosis and 431 control subjects). We calculated odds ratios (ORs) and corresponding 95% confidence intervals (CI) adjusted for age, sex and study centre. Varicose veins and leg ulcer were associated with a 1·6-fold (95% CI 1·2-2·3) and 3·3-fold increased risk of thrombosis (95% CI 1·6-6·7), respectively, while the risk was increased 3·0-fold (95% CI 2·1-4·5) in the presence of leg oedema. The risk of thrombosis was highest when all three risk factors occurred simultaneously (OR: 10·5; 95% CI 1·3-86·1). In conclusion, clinical features of venous insufficiency, i.e., varicose veins, leg ulcers and leg oedema, are risk factors for venous thrombosis in older people.

  11. Clinical and morphological features of undifferentiated monomorphous GH/TSH-secreting pituitary adenoma.

    PubMed

    Skorić, T; Korsić, M; Zarković, K; Plavsić, V; Besenski, N; Breskovac, L; Giljević, Z; Paladino, J

    1999-06-01

    A 41-year-old male presented with progressive visual defects, acromegaly and hyperthyroidism. After clinical evaluation a giant GH/TSH-secreting pituitary adenoma was diagnosed. Administration of the somatostatin analog octreotide at doses of 150 microg s.c. per day inhibited the secretion of both GH and TSH. A three-week treatment with octreotide prior to surgery led to slight visual improvement and CT scan showed some new necrotic areas within the tumor mass. Transcranial surgery was performed. By immunohistochemical analyses of the adenoma tissue GH, prolactin and beta-chorionic gonadotropin were detected; TSH was negative. Electron microscopy revealed an undifferentiated, monomorphous adenoma with morphological features of an acidophil stem cell adenoma such as the presence of misplaced exocytoses, fibrous bodies and mitochondrial gigantism. However, the tumor cells contained small secretory granules (up to 250 nm) accumulated along the cell membrane characteristic of thyrotrope cells. Furthermore, some adenoma cells were fusiform with long cytoplasmic processes resembling thyrotropes. Two months after the operation CT scan revealed a large residual tumor. Serum GH and TSH levels had increased again and the TSH level was even higher than before the treatment. The patient died suddenly, most probably of lethal arrhythmia. Specimens of the adenoma tissue obtained at autopsy confirmed the previous findings with the exception of positive immunostaining for TSH which was found in less than 1% of the adenoma cells. This undifferentiated, monomorphous GH/TSH-secreting pituitary adenoma represents an entity that is unusual both in its ultrastructural features and clinical manifestations suggesting a cytogenesis from an early, undifferentiated stem cell.

  12. Prevalence and clinical features associated with bipolar disorder polypharmacy: a systematic review

    PubMed Central

    Fornaro, Michele; De Berardis, Domenico; Koshy, Ann Sarah; Perna, Giampaolo; Valchera, Alessandro; Vancampfort, Davy; Stubbs, Brendon

    2016-01-01

    Background Uncertainty exists regarding the prevalence and clinical features associated with the practice of polypharmacy in bipolar disorder (BD), warranting a systematic review on the matter. Methods Three authors independently searched major electronic databases from inception till September 2015. Articles were included that reported either qualitative or quantitative data about the prevalence and clinical features associated with polypharmacy in adult cases of BD. Results The operative definitions of polypharmacy adopted across varying studies varied, with concomitant use of two or more psychotropic medications or use of four or more psychotropic medications at once being the most common and the most reliable, respectively. Regardless of type or current mood episode polarity of BD, prevalence rates up to 85% and 36% were found using the most permissive (two or more medications at once) and the most conservative (four or more) operative definitions for polypharmacy, respectively. Point prevalence prescription rates of one or more antidepressant or antipsychotic as part of a polypharmacy regimen occurred in up to 45% or 80% of the cases, respectively, according to the most permissive definition of polypharmacy. In contrast, lithium prescription rates ranged from 13% to 33% in BD patients receiving polypharmacy according to conservative and permissive definitions, possibly suggesting a reduced need for augmentation of combination strategies for those cases of BD with a favorable lifetime lithium response and/or long-lasting treatment as well as less likelihood of lithium response over the time most severe cases possibly exposed to a more complex polypharmacy overall. Limitations “Apples and oranges” bias; publication bias for most recently introduced compounds. Conclusion Polypharmacy is common among people with BD across varying type and mood episode phases of illness. Special population, including BD patients at high risk of familial load for suicidal

  13. Clinical, Laboratory and Radiographic Features of Patients with Pneumonia and Parapneumonic Effusions

    PubMed Central

    Petrusevska-Marinkovic, Sanja; Kondova-Topuzovska, Irena; Milenkovic, Zvonko; Kondov, Goran; Anastasovska, Ankica

    2016-01-01

    BACKGROUND: Parapneumonic effusions complicating pneumonia are associated with increased morbidity and mortality. AIM: To determine the role of the clinical, laboratory and radiographic features to the differential diagnosis of patients with community- acquired pneumonia (CAP) without effusion, uncomplicated parapneumonic effusion (UCPPE) and complicated parapneumonic effusion (CPPE). MATERIAL AND METHODS: We analysed 148 patients with CAP without effusion, 50 with UCPPE and 44 with CPPE. In three groups of patients, the majority was male patients (58.11%, 58%, 61.36%) consequently. RESULTS: The chronic heart failure was the most common comorbidity in a group with CAP (28; 18.92%) and UCPPE (7; 14%), alcoholism (12;12.77%) in a group with CPPE. Patients with CPPE had significantly longer fever compared to patients with CAP without effusion (p = 0.003). Pleuritic chest pain (86.36%) and dyspnea (88.64%) were the most common symptoms in CPPE, then to group with UCPPE (60%; 52%), and in CAP without effusion (25.68%; 47,97%). Diffuse pulmonary changes were detected more frequently in the group with CAP without effusion compared with the group with CPPE (64.86 % vs. 27.27 %), while the segment lung changes were more common in patients with CPPE (50% vs. 20.27%). Patients with CPPE were significant with higher erythrocytes sedimentation rate (ESR), white blood cells (WBC) and serum C- reactive protein (CRP) than it the other two groups (p = 0.00090, p = 0.01, p= 0.000065). CONCLUSION: Proper analysis of clinical, laboratory and radiographic features of patients with CAP and parapneumonic effusion can prevent mismanagement in these patients and will reduce morbidity and mortality. PMID:27703568

  14. New-Onset Refractory Status Epilepticus with Claustrum Damage: Definition of the Clinical and Neuroimaging Features

    PubMed Central

    Meletti, Stefano; Giovannini, Giada; d’Orsi, Giuseppe; Toran, Lisa; Monti, Giulia; Guha, Rahul; Kiryttopoulos, Andreas; Pascarella, Maria Grazia; Martino, Tommaso; Alexopoulos, Haris; Spilioti, Martha; Slonkova, Jana

    2017-01-01

    New-onset refractory status epilepticus (NORSE) is a rare but challenging condition occurring in a previously healthy patient, often with no identifiable cause. We describe the electro-clinical features and outcomes in a group of patients with NORSE who all demonstrated a typical magnetic resonance imaging (MRI) sign characterized by bilateral lesions of the claustrum. The group includes 31 patients (12 personal and 19 previously published cases; 17 females; mean age of 25 years). Fever preceded status epilepticus (SE) in 28 patients, by a mean of 6 days. SE was refractory/super-refractory in 74% of the patients, requiring third-line agents and a median of 15 days staying in an intensive care unit. Focal motor and tonic–clonic seizures were observed in 90%, complex partial seizures in 14%, and myoclonic seizures in 14% of the cases. All patients showed T2/FLAIR hyperintense foci in bilateral claustrum, appearing on average 10 days after SE onset. Other limbic (hippocampus, insular) alterations were present in 53% of patients. Within the personal cases, extensive search for known autoantibodies was inconclusive, though 7 of 11 patients had cerebrospinal fluid lymphocytic pleocytosis and 3 cases had oligoclonal bands. Two subjects died during the acute phase, one in the chronic phase (probable sudden unexplained death in epilepsy), and one developed a persistent vegetative state. Among survivors, 80% developed drug-resistant epilepsy. Febrile illness-related SE associated with bilateral claustrum hyperintensity on MRI represents a condition with defined clinical features and a presumed but unidentified autoimmune etiology. A better characterization of de novo SE is mandatory for the search of specific etiologies.

  15. Healthcare-associated Pneumonia: Clinical Features and Retrospective Analysis Over 10 Years

    PubMed Central

    Qi, Fei; Zhang, Guo-Xin; She, Dan-Yang; Liang, Zhi-Xin; Wang, Ren-Tao; Yang, Zhen; Chen, Liang-An; Cui, Jun-Chang

    2015-01-01

    Background: Healthcare-associated pneumonia (HCAP) is associated with drug-resistant pathogens and high mortality, and there is no clear evidence that this is due to inappropriate antibiotic therapy. This study was to elucidate the clinical features, pathogens, therapy, and outcomes of HCAP, and to clarify the risk factors for drug-resistant pathogens and prognosis. Methods: Retrospective observational study among hospitalized patients with HCAP over 10 years. The primary outcome was 30-day all-cause hospital mortality after admission. Demographics (age, gender, clinical features, and comorbidities), dates of admission, discharge and/or death, hospitalization costs, microbiological results, chest imaging studies, and CURB-65 were analyzed. Antibiotics, admission to Intensive Care Unit (ICU), mechanical ventilation, and pneumonia prognosis were recorded. Patients were dichotomized based on CURB-65 (low- vs. high-risk). Results: Among 612 patients (mean age of 70.7 years), 88.4% had at least one comorbidity. Commonly detected pathogens were Acinetobacter baumannii, Pseudomonas aeruginosa, and coagulase-negative staphylococci. Initial monotherapy with β-lactam antibiotics was the most common initial therapy (50%). Mean age, length of stay, hospitalization expenses, ICU admission, mechanical ventilation use, malignancies, and detection rate for P. aeruginosa, and Staphylococcus aureus were higher in the high-risk group compared with the low-risk group. CURB-65 ≥3, malignancies, and mechanical ventilation were associated with an increased mortality. Logistic regression analysis showed that cerebrovascular diseases and being bedridden were independent risk factors for HCAP. Conclusion: Initial treatment of HCAP with broad-spectrum antibiotics could be an appropriate approach. CURB-65 ≥3, malignancies, and mechanical ventilation may result in an increased mortality. PMID:26481734

  16. Mitochondrial DNAs decreased and correlated with clinical features in HCV patients from Yunnan, China.

    PubMed

    Zhang, A-Mei; Ma, Ke; Song, Yuzhu; Feng, Yue; Duan, Haiping; Zhao, Ping; Wang, Binghui; Xu, Gang; Li, Zheng; Xia, Xueshan

    2016-07-01

    Hepatitis C was the most popular chronic infectious liver disease worldwide. It was identified that Hepatitis C virus (HCV) infection could lead to mitochondrial dysfunction, though the mechanism was not fully understood. To investigate whether mtDNA copy number could be affected by HCV infection and be associated with clinical features of HCV patients, mtDNA copy numbers were analyzed in 242 patients with HCV infection and 226 matched control samples. The results suggested that mtDNA copy numbers significantly decreased in HCV patients (68.80 ± 3.33) than in control samples (81.54 ± 4.50) (p = 0.022). When males/females were separated from total patients to compare mtDNA copy numbers with gender matched controls, mtDNA copy numbers still significantly decreased in male HCV patients (p = 0.002). Further analysis indicated that level of high-density lipoprotein cholesterol (HDL-C) was negatively correlated with mtDNA copy numbers in total HCV patients (r = -0.128, p = 0.047), and this correlation was more significant in male HCV patients (r = -0.266, p = 0.030). Intriguingly, aspartate amino-transferase (AST) showed positive correlation with mtDNA copy numbers (r = 0.260, p = 0.034) in male HCV patients. Our results indicated that mtDNA copy numbers depleted and correlated with clinical features in male HCV patients.

  17. Association of ISMav6 with the Pattern of Antibiotic Resistance in Korean Mycobacterium avium Clinical Isolates but No Relevance between Their Genotypes and Clinical Features

    PubMed Central

    Kim, Su-Young; Jeong, Byeong-Ho; Park, Hye Yun; Jeon, Kyeongman; Han, Seung Jung; Shin, Sung Jae; Koh, Won-Jung

    2016-01-01

    The aim of this study was to genetically characterize clinical isolates from patients diagnosed with Mycobacterium avium lung disease and to investigate the clinical significance. Multi-locus sequencing analysis (MLSA) and pattern of insertion sequence analysis of M. avium isolates from 92 Korean patients revealed that all isolates were M. avium subspecies hominissuis. In hsp65 sequevar analysis, codes 2, 15, and 16 were most frequently found (88/92) with similar proportions among cases additionally two isolates belonging to code N2 and an unreported code were identified, respectively. In insertion element analysis, all isolates were IS1311 positive and IS900 negative. Four of the M. avium subsp. hominissuis isolates did not harbor IS1245 and 1 of the M. avium isolates intriguingly harbored DT1, which is thought to be a M. intracellulare-specific element. M. avium subsp. hominissuis harboring ISMav6 is prevalent in Korea. No significant association between clinical manifestation and treatment response has been found in patients with the hsp65 code type and ISMav6, indicating that no specific strain/genotype among M. avium subsp. hominissuis organisms was a major source of M. avium lung disease. Interestingly, the presence of ISMav6 was correlated with greater resistance to moxifloxacin. Conclusively, the genotype of Korean M. avium subsp. hominissuis isolates is not a disease determinant responsible for lung disease and specific virulent factors of M. avium subsp. hominissuis need to be investigated further. PMID:26859598

  18. Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients.

    PubMed

    Wang, Ting-Shun; Chiu, Hsien-Yi; Hong, Jin-Bong; Chan, Chih-Chieh; Lin, Sung-Jan; Tsai, Tsen-Fang

    2016-01-01

    Different studies have reported various values for the percentage of patients with IL36RN mutations, and it has also been reported that the sites of these mutations differ among different ethnicities. The current study was a cross-sectional study conducted to investigate the risk factors predicting IL36RN mutation in Chinese patients with different clinical features of pustular psoriasis. 57 Han Chinese patients, including 32 with generalized pustular psoriasis, 14 with palmoplantar pustulosis, 9 with plaque-type psoriasis with pustules, and 2 with erythrodermic psoriasis, were enrolled between March 2013 and July 2014. Blood samples were collected, genomic DNA was extracted from leukocytes, and polymerase chain reaction (PCR)-based Sanger sequencing was used to analyze the coding exons and flanking introns of the IL36RN gene. The patients with generalized pustular psoriasis exhibited the highest IL36RN mutation rate (75 %) among the aforementioned patient types, with the subgroup consisting of those patients who had features of acrodermatitis continua of Hallopeau exhibiting the highest c.115+6T>C mutation rate (93.8 %). In addition, early onset, ever generalized pustular psoriasis (more than two attacks), ever acrodermatitis continua of Hallopeau, inverse psoriasis, and a family history of pustular psoriasis were associated with IL36RN mutation. The c.115+6T>C mutation was the most common and the most important variant in all subtypes of pustular psoriasis with IL36RN mutations among our sample of Chinese patients.

  19. Primary Progressive Apraxia of Speech: Clinical Features and Acoustic and Neurologic Correlates

    PubMed Central

    Strand, Edythe A.; Clark, Heather; Machulda, Mary; Whitwell, Jennifer L.; Josephs, Keith A.

    2015-01-01

    Purpose This study summarizes 2 illustrative cases of a neurodegenerative speech disorder, primary progressive apraxia of speech (AOS), as a vehicle for providing an overview of the disorder and an approach to describing and quantifying its perceptual features and some of its temporal acoustic attributes. Method Two individuals with primary progressive AOS underwent speech-language and neurologic evaluations on 2 occasions, ranging from 2.0 to 7.5 years postonset. Performance on several tests, tasks, and rating scales, as well as several acoustic measures, were compared over time within and between cases. Acoustic measures were compared with performance of control speakers. Results Both patients initially presented with AOS as the only or predominant sign of disease and without aphasia or dysarthria. The presenting features and temporal progression were captured in an AOS Rating Scale, an Articulation Error Score, and temporal acoustic measures of utterance duration, syllable rates per second, rates of speechlike alternating motion and sequential motion, and a pairwise variability index measure. Conclusions AOS can be the predominant manifestation of neurodegenerative disease. Clinical ratings of its attributes and acoustic measures of some of its temporal characteristics can support its diagnosis and help quantify its salient characteristics and progression over time. PMID:25654422

  20. Post-traumatic stress disorder in different types of stress (clinical features and treatment).

    PubMed

    Rumyantseva, G M; Stepanov, A L

    2008-01-01

    Two types of stress situation were compared: involvement in combat actions and working in the post-Chernobyl atomic energy station clean-up. A total of 30 subjects involved in combat actions (combatants) and 33 clean-up workers were observed for 5-6 years and 15-17 years after involvement in stress situations. Mean ages in the two groups were 27.0 +/- 2.8 and 43.7 +/- 4.5 years respectively. Clinical features were analyzed in terms of the major criteria of post-traumatic stress disorder (PTSD) - "immersion" in the experience, "avoidance," "hyperexcitability," and "social functioning." There were both common features in the two groups of subjects as well as individual characteristics dependent on the nature of the stress. Patients were treated with Coaxil at a dose of 37.5 mg/day for four weeks. In both groups of patients, Coaxil had the most favorable effects on immersion and hyperexcitability, which improved social adaptation. The "avoidance" symptom was more resistant. These studies lead to the conclusion that Coaxil is an effective agent for the treatment of different types of PTSD.

  1. Clinical features and biomarkers of concussion and mild traumatic brain injury in pediatric patients.

    PubMed

    McCarthy, Matthew T; Kosofsky, Barry E

    2015-05-01

    There has been increasing awareness of the incidence and potential long-term consequences of mild traumatic brain injury (mTBI) in children and young adults. While parents, school systems, and athletic programs are clamoring for evidence-based guidelines, the field remains primitive in understanding the factors resulting in a spectrum of individual outcomes, most of which are complete, but some of which are not. In this article, we discuss the definition, epidemiology, clinical presentation, course, and outcomes of mTBI, with a focus on the pediatric population as the context for reviewing the mechanisms and pathophysiology mediating, and biomarkers reflective of, more significant concussion-induced brain injury. Our goal is to present a general overview of the features of mTBI in the pediatric population in order to provide a conceptual model for pediatricians and pediatric subspecialists. This model emphasizes the importance of establishing actionable, noninvasive biomarkers that are reflective of brain injury and that may identify those pediatric patients who can benefit from earlier and more aggressive interventions. We will focus on the specific features of mTBI in pediatric patients; although given the relative lack of research in the pediatric population, we will also extrapolate from research on adults.

  2. Scent of aura? Clinical features of olfactory hallucinations during a migraine attack (OHM).

    PubMed

    Mainardi, Federico; Rapoport, Alan; Zanchin, Giorgio; Maggioni, Ferdinando

    2017-02-01

    Introduction Olfactory hallucination during a migraine attack (OHM) is a rare phenomenon. At present, it is not considered a manifestation of migraine aura. Material and methods The clinical features of OHM were collected in 11 patients. Results Of the 11 patients, 10 had migraine without aura and one migraine with aura associated with OHM. Mean age at onset of headache and at appearance of OHM were respectively 17.8 and 32.3 years. Migraine average frequency was 3.9 attacks/month, 19% of them being associated with OHM. The temporal pattern of OHM maintained the same characteristics in the different attacks. OHM onset was described as sudden ( n = 5), gradual ( n = 3), initially sudden and then gradual ( n = 2), or developing in a few seconds ( n = 1). In most of the cases ( n = 8) OHM lasted from 3 to 10 minutes; it persisted during the pain phase (2-24 hours) in only three patients. The type of the perceived smell was invariably constant in nine patients. Conclusion OHM features fulfilled the ICHD-III beta criteria for typical aura.

  3. Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

    PubMed Central

    Besur, Siddesh; Hou, Weihong; Schmeltzer, Paul; Bonkovsky, Herbert L.

    2014-01-01

    Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias. Porphyrias are classified as hepatic and erythropoietic porphyrias based on the organ system in which heme precursors (5-aminolevulinic acid (ALA), porphobilinogen and porphyrins) are chiefly overproduced. The hepatic porphyrias are further subdivided into acute porphyrias and chronic hepatic porphyrias. The acute porphyrias include acute intermittent, hereditary copro-, variegate and ALA dehydratase deficiency porphyria. Chronic hepatic porphyrias include porphyria cutanea tarda and hepatoerythropoietic porphyria. The erythropoietic porphyrias include congenital erythropoietic porphyria (Gűnther’s disease) and erythropoietic protoporphyria. In this review, we summarize the key features of normal heme synthesis and its differing regulation in liver versus bone marrow. In both organs, principal regulation is exerted at the level of the first and rate-controlling enzyme, but by different molecules (heme in the liver and iron in the bone marrow). We also describe salient clinical, laboratory and genetic features of the eight types of porphyria. PMID:25372274

  4. Conformational features of cepacian: the exopolysaccharide produced by clinical strains of Burkholderia cepacia.

    PubMed

    Nogueira, Carlos E Sampaio; Ruggiero, Jose R; Sist, Paola; Cescutti, Paola; Urbani, Ranieri; Rizzo, Roberto

    2005-04-11

    Conformational energy calculations and molecular dynamics investigations, both in water and in dimethyl sulfoxide, were carried out on the exopolysaccharide cepacian produced by the majority of the clinical strains of Burkholderia cepacia, an opportunistic pathogen causing serious lung infection in patients affected by cystic fibrosis, The investigation was aimed at defining the structural and conformational features, which might be relevant for clarification of the structure-function relationships of the polymer. The molecular dynamics calculations were carried out by Ramachandran-type energy plots of the disaccharides that constitute the polymer repeating unit. The dynamics of an oligomer composed of three repeating units were investigated in water and in Me2SO, a non-aggregating solvent. Analysis of the time persistence of hydrogen bonds showed the presence of a large number of favourable interactions in water, which were less evident in Me2SO. The calculations on the cepacian chain indicated that polymer conformational features in water were affected by the lateral chains, but were also largely dictated by the presence of solvent. Moreover, the large number of intra-chain hydrogen bonds in water disappeared in Me2SO solution, increasing the average dimension of the polymer chains.

  5. Clinically important features of porphyrin and heme metabolism and the porphyrias.

    PubMed

    Besur, Siddesh; Hou, Wehong; Schmeltzer, Paul; Bonkovsky, Herbert L

    2014-11-03

    Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias. Porphyrias are classified as hepatic and erythropoietic porphyrias based on the organ system in which heme precursors (5-aminolevulinic acid (ALA), porphobilinogen and porphyrins) are chiefly overproduced. The hepatic porphyrias are further subdivided into acute porphyrias and chronic hepatic porphyrias. The acute porphyrias include acute intermittent, hereditary copro-, variegate and ALA dehydratase deficiency porphyria. Chronic hepatic porphyrias include porphyria cutanea tarda and hepatoerythropoietic porphyria. The erythropoietic porphyrias include congenital erythropoietic porphyria (Gűnther's disease) and erythropoietic protoporphyria. In this review, we summarize the key features of normal heme synthesis and its differing regulation in liver versus bone marrow. In both organs, principal regulation is exerted at the level of the first and rate-controlling enzyme, but by different molecules (heme in the liver and iron in the bone marrow). We also describe salient clinical, laboratory and genetic features of the eight types of porphyria.

  6. Infantile hepatic hemangiomas. Clinical features, radiologic investigations, and treatment of 20 patients

    SciTech Connect

    Stanley, P.; Geer, G.D.; Miller, J.H.; Gilsanz, V.; Landing, B.H.; Boechat, I.M. )

    1989-08-15

    The clinical features, radiologic investigation, and treatment of 20 infants with hepatic hemangiomas are presented. Palpable abdominal mass (n = 18) and cardiac failure (n = 11) were the common presenting features. Nine patients had hyperconsumptive coagulopathy. Seven patients had other hemangiomas. Ultrasound (n = 15) showed the number and distribution of the hemangiomas within the liver. Hypoechoic and hyperechoic elements were present in addition to prominent vascular channels and diminished caliber of the distal aorta. Radionuclide sulfur colloid (n = 12) and labeled red blood cell (n = 7) studies showed the distribution and vascularity of the hemangiomas. Computed tomography (n = 8) revealed central hypointensity with marked peripheral enhancement after contrast. Arteriography now performed only as a prelude to therapeutic embolization demonstrated hypervascularity in each patient, contrast pooling in six and early draining veins in five. Magnetic resonance scanning (n = 3) showed decreased signal intensity on T1 images and high intensity signal on T2. In two patients, there was resolution or improvement of the hemangiomas without therapy. Four patients had surgery (lobectomy (2), trisegmentectomy (1), and surgical evacuation of a central hematoma (1)). Steroids and radiation were given to seven patients, and one patient also required therapeutic embolization. Steroids were the initial therapy in five patients, one of whom later required therapeutic embolization and another cyclophosphamide. Two patients were treated initially with radiation therapy, one of whom also needed emergency hepatic artery ligation. Seventeen of the 20 patients are alive and well from 6 months to 14 years after diagnosis.

  7. Infections caused by carbapenemase-producing Enterobacteriaceae: risk factors, clinical features and prognosis.

    PubMed

    Paño Pardo, José Ramón; Serrano Villar, Sergio; Ramos Ramos, Juan Carlos; Pintado, Vicente

    2014-12-01

    Infections caused by carbapenem-producing Enterobacteriaceae (CPE) can present as several infectious syndromes, but they primarily present as respiratory, urinary and blood stream infections (primary or catheter-related) that are usually found as nosocomial or healthcare-associated infections. The risk of CPE infection is influenced by individual factors, such as the length of the hospital stay and their exposure to invasive procedures and/or to antimicrobials. Of note, exposure to several antimicrobials, not only carbapenems, has been linked to CPE colonization; the duration of antibiotic exposure is one of the primary drivers of CPE acquisition. Individual risk factors must be considered jointly with the local epidemiology of these microorganisms in healthcare institutions. Overall, these infections have a high associated mortality. Mortality is influenced by host factors (e.g., age, comorbidity and immune deficiency), infection-related variables (e.g., type and severity of the infection) and treatment-related factors such as the delay in the initiation of appropriate antimicrobial therapy and the use or monotherapy or combined antimicrobial therapy. Gaining knowledge concerning the epidemiology, clinical features and prognostic features of CPE infection could be useful for improving infection prevention and for the management of patients with infections caused by these microorganisms.

  8. The Vidian Canal: Radiological Features in Japanese Population and Clinical Implications

    PubMed Central

    MATO, David; YOKOTA, Hajime; HIRONO, Seiichiro; MARTINO, Juan; SAEKI, Naokatsu

    2015-01-01

    The vidian canal (VC), a bony tunnel in which the vidian artery and nerve pass, has been widely known as an important landmark to identify the anterior genu of the petrous carotid artery (AGPCA) especially during lateral extended endoscopic endonasal approachs (LEEEAs). The objectives of this study in the Japanese population are to describe the radiological anatomic features and relationships between VC and its surrounding structures, and discuss the clinical implications. We studied 231 high-resolution computed tomography (CT) scans with a slice thickness of 0.5 mm. All the patients had known sellar or parasellar pathologies but without any involvement of VC. The following VC-related parameters were examined: its length, relationship to AGPCA, course from the pterygopalatine fossa to the carotid canal, its position relative to the medial pterygoid plate and pneumatization pattern of the sphenoid sinus. Mean length of VC is 14.6 mm. There is more tendency of straight-running VC compared to other populations. VC locates infero-lateral to AGPCA in all the cases. The protrusion of VC and the paraclival carotid artery to the sphenoid sinus, as well as well-pneumatization of the sinus is also observed more frequently in almost a half of the population. Surgeons who perform LEEEAs in Japanese patients must know these anatomical features. The characteristics particular to Japanese populations may facilitate better identification of VC and exposure to AGPCA intraoperatively. PMID:25744352

  9. Clinical, pathologic, and molecular features of early-onset colorectal carcinoma.

    PubMed

    Yantiss, Rhonda K; Goodarzi, Mahmoud; Zhou, Xi K; Rennert, Hanna; Pirog, Edyta C; Banner, Barbara F; Chen, Yao-Tseng

    2009-04-01

    The incidence of colorectal carcinoma has increased among patients <40 years of age for unclear reasons. In this study, we describe the clinical, pathologic, and molecular features of colorectal carcinomas that developed in young patients. We compiled a study group of 24 patients <40 years of age with colorectal carcinoma, and 45 patients > or =40 years of age served as controls. Cases were evaluated for clinical risk factors of malignancy and pathologic features predictive of outcome. The tumors were immunohistochemically stained for O6-methylguanine methyltransferase, MLH-1, MSH-2, MSH-6, beta-catenin, chemokine (C-X-C motif) receptor 4, epidermal growth factor receptor, TP53, p16, survivin, and alpha-methylacyl-CoA racemase; assessed for microsatellite instability and mutations in beta-catenin, APC, EGFR, PIK3CA, KRAS, and BRAF; evaluated for micro-RNA expression (miR-21, miR-20a, miR-183, miR-192, miR-145, miR-106a, miR-181b, and miR-203); and examined for evidence of human papillomavirus infection. One study patient each had ulcerative colitis and hereditary nonpolyposis colorectal cancer. Ninety-two percent of tumors from young patients occurred in the distal colon (P=0.006), particularly the rectum (58%, P=0.02), and 75% were stage III or IV. Tumors from young patients showed more frequent lymphovascular (81%, P=0.03) and/or venous (48%, P=0.003) invasion, an infiltrative growth pattern (81%, P=0.03), and alpha-methylacyl-CoA racemase expression (83%, P=0.02) compared with controls. Carcinomas in this group showed significantly increased expression of miR-21, miR-20a, miR-145, miR-181b, and miR-203 (P< or =0.005 for all comparisons with controls). These results indicate that early-onset carcinomas commonly show pathologic features associated with aggressive behavior. Posttranslational regulation of mRNA and subsequent protein expression may be particularly important to the development of colorectal carcinomas in young patients.

  10. Refractory anemia with severe dysplasia: clinical significance of morphological features in refractory anemia.

    PubMed

    Matsuda, A; Jinnai, I; Yagasaki, F; Kusumoto, S; Minamihisamatsu, M; Honda, S; Murohashi, I; Bessho, M; Hirashima, K

    1998-04-01

    Refractory anemia (RA) in myelodysplastic syndromes (MDS) are very heterogeneous diseases regarding their morphology, clinical features and survival. We proposed the new designations 'RA with severe dysplasia (RASD)' and 'RA with minimal dysplasia (RAminiD)'. In our criteria, RASD is considered present if a bone marrow (BM) examination shows Pseudo-Pelger-Huet anomalies of mature neutrophils > or =3% and/or micromegakaryocytes (mMgk) of megakaryocytes > or =10% in RA patients. RAminiD is defined as RA cases other than RASD. After the reclassification of 58 primary RA patients, the group was composed of 45 RAminiD and 13 RASD patients. The blast percentage in the BM and the frequency of cytogenetic abnormalities observed in the RASD patients were intermediate between those in the RAminiD and RAEB patients. The analysis of survival curves revealed differences among the three groups; the RASD patients had lower survival probabilities than those of the RAminiD group, and significantly higher probabilities than those of the RAEB group. (RAminiD vs RASD, P=0.06; RASD vs RAEB, P=0.004.) Our data indicate that in RA patients, RASD is a distinct subset of RA with an unfavorable clinical outcome.

  11. Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome.

    PubMed

    Dotta, L; Tassone, L; Badolato, R

    2011-06-01

    WHIM syndrome is a dominantly inherited primary immunodeficiency disorder representing the first identified example of human disease caused by mutations in the gene encoding for the chemokine receptor CXCR4. Pathogenesis is mediated by CXCR4 hyperfunction, leading to increased responsiveness to its unique ligand CXCL12 (also known as SDF-1). The altered CXCR4/CXCL12 interaction likely impairs cellular homeostasis and trafficking, resulting in immunological dysfunctions. The acronym WHIM resumes the main features of the syndrome: Warts, Hypogammaglobulinemia, Infections and Myelokathexis, which is abnormal retention of mature neutrophils in the bone marrow. WHIM patients suffer from recurrent bacterial infections since childhood and manifest a specific susceptibility to HPV infections. Hematological findings include neutropenia, lymphopenia and hypogammaglobulinemia. Because of the rarity of the disease and the heterogeneity in clinical presentation, diagnosis is often delayed. In the majority of patients, the phenotype is incomplete at the onset and WHIM syndrome is not suspected. Early identification may improve clinical and therapeutic management. Symptomatic treatments include G-CSF, substitutive immunoglobulins and antibiotic prophylaxis. A new therapeutic strategy might include the potent inhibitor of CXCR4 function plerixafor (Mozobil), as an agent specifically targeting the molecular defect in order to attenuate the phenotypic manifestations of the syndrome.

  12. Endophthalmitis Caused by Enterococcus faecalis: Clinical Features, Antibiotic Sensitivities, and Outcomes

    PubMed Central

    Kuriyan, Ajay E.; Sridhar, Jayanth; Flynn, Harry W.; Smiddy, William E.; Albini, Thomas A.; Berrocal, Audina M.; Forster, Richard K.; Belin, Peter J.; Miller, Darlene

    2014-01-01

    Purpose To report the clinical features, antibiotic sensitivities, and visual acuity (VA) outcomes of endophthalmitis caused by Enterococcus faecalis. Study Design Retrospective, observational case series. Methods A consecutive case series of patients with culture-positive endophthalmitis caused by E. faecalis between January 1, 2002 and December 31, 2012 at an academic referral center. Results Of 14 patients identified, clinical settings included bleb-associated (n=8), post-cataract surgery (n=4), and post-penetrating keratoplasty (n=2). All isolates were vancomycin sensitive. When comparing isolates in the current study to isolates from 1990–2001, the minimal inhibitory concentration required to inhibit 90% of isolates (MIC 90, μg/ml) increased for ciprofloxacin (4 from 1), erythromycin (256 from 4), and penicillin (8 from 4), indicating higher levels of resistance. The MIC 90 remained the same for vancomycin (2) and linezolid (2). Presenting VA ranged from hand motion to no light perception. Initial treatment strategies were vitreous tap and intravitreal antibiotic injection (n=12) and pars plana vitrectomy with intravitreal antibiotic injection (n=2). VA outcomes were ≤ 20/400 in 13 (93%) of 14 patients. Conclusions Although all isolates were sensitive to vancomycin and linezolid, higher MIC 90s for isolates in the current study, compared to isolates from 1990 to 2001, occurred with ciprofloxacin, erythromycin, and penicillin. Despite prompt treatment, most patients had poor outcomes. PMID:25089354

  13. Prevalence, clinical features and quantification of genital non-viral infections.

    PubMed

    Carne, C A; Gibbs, J; Delaney, A; Sonnex, C; Verlander, N Q; Smielewska, A; Skeggs, E; Bentley, N; Jalal, H

    2013-04-01

    We conducted a study of the prevalence, clinical features and microscopy findings, by retrospective case-notes survey, of six non-viral organisms, among 1718 attendees at a genitourinary (GU) medicine clinic in England. An in-house assay for six non-viral infections was used and quantitation of ureaplasmas performed. The prevalences of the six organisms were: Chlamydia trachomatis (CT), 7.1%; Neisseria gonorrhoeae (NG), 0.6%; Mycoplasma genitalium (MG), 1.0%; Trichomonas vaginalis, 0.2%; Ureaplasma urealyticum, 16.1%; Ureaplasma parvum, 35.6%. Among men (but not women) there were significantly raised odds ratios compared with that for U. parvum, for the symptom of discharge with CT, 7.30; MG, 6.43; NG 19.29; dysuria with CT, 5.89 and MG, 5.95; and the microscopy finding of >4 pus cells per high power field with: CT, 7.22; MG, 4.58 and NG 22.31. Evaluation of a possible link between quantitation of U. urealyticum and urethritis did not confirm research findings elsewhere.

  14. Metabolic disorders with clinical and radiologic features of sporadic Creutzfeldt-Jakob disease.

    PubMed

    Rosenbloom, Michael H; Tartaglia, M Carmela; Forner, Sven A; W