Sample records for abnormalities clinical history

  1. Diffuse white matter tract abnormalities in clinically normal ageing retired athletes with a history of sports-related concussions. (United States)

    Tremblay, Sebastien; Henry, Luke C; Bedetti, Christophe; Larson-Dupuis, Camille; Gagnon, Jean-François; Evans, Alan C; Théoret, Hugo; Lassonde, Maryse; De Beaumont, Louis


    Sports-related concussions have been shown to lead to persistent subclinical anomalies of the motor and cognitive systems in young asymptomatic athletes. In advancing age, these latent alterations correlate with detectable motor and cognitive function decline. Until now, the interacting effects of concussions and the normal ageing process on white matter tract integrity remain unknown. Here we used a tract-based spatial statistical method to uncover potential white matter tissue damage in 15 retired athletes with a history of concussions, free of comorbid medical conditions. We also investigated potential associations between white matter integrity and declines in cognitive and motor functions. Compared to an age- and education-matched control group of 15 retired athletes without concussions, former athletes with concussions exhibited widespread white matter anomalies along many major association, interhemispheric, and projection tracts. Group contrasts revealed decreases in fractional anisotropy, as well as increases in mean and radial diffusivity measures in the concussed group. These differences were primarily apparent in fronto-parietal networks as well as in the frontal aspect of the corpus callosum. The white matter anomalies uncovered in concussed athletes were significantly associated with a decline in episodic memory and lateral ventricle expansion. Finally, the expected association between frontal white matter integrity and motor learning found in former non-concussed athletes was absent in concussed participants. Together, these results show that advancing age in retired athletes presenting with a history of sports-related concussions is linked to diffuse white matter abnormalities that are consistent with the effects of traumatic axonal injury and exacerbated demyelination. These changes in white matter integrity might explain the cognitive and motor function declines documented in this population. © The Author (2014). Published by Oxford University

  2. Clinical approach to a patient with abnormal uterine bleeding

    African Journals Online (AJOL)

    Bleeding from rectum or bladder. Table I: Organic causes of abnormal excessive menstruation. Women with acute severe blood loss must be resuscitated. A diagnosis should be made on the basis of history, clinical examination and special testing including a pregnancy test, a hemato- crit, abdominal and pelvic ultrasound.

  3. Abnormal bone scan : Importance of clinical correlation

    Directory of Open Access Journals (Sweden)

    Dharm Raj Singh


    Full Text Available A case of renal cell carcinoma which was diagnosed to have metastatic disease on the basis of two hot spots in ribs on bone scan, is presented. After careful and thor-ough history, it turned out to be fracture ribs which oc-curred due to bad positioning during radical nephrectoiny. This case highlights the importance of clinical judgement especially in the modern era of sophisticated investiga-tions.

  4. Abnormal electroretinography in schizophrenic patients with a history of sun gazing. (United States)

    Gerbaldo, H; Thaker, G; Tittel, P G; Layne-Gedge, J; Moran, M; Demisch, L


    Electroretinographic (ERG) measurements were performed in 9 schizophrenic patients and in 13 control subjects. The measurements of schizophrenic patients as a group did not differ from those of normals. However, 6 schizophrenic patients who had a past history of sun gazing showed a decrease in retinal responsiveness under conditions of light adaptation. These results suggest that a subgroup of schizophrenic patients, who show deviant light-related behavior, have abnormal ERG. We postulate that an abnormality in retinal dopaminergic neurons, which are known to reduce light responsiveness of horizontal and ganglion cells, is the underlying pathophysiology of this clinical finding.

  5. Clinical correlates of laboratory abnormalities in patients with severe ...

    African Journals Online (AJOL)

    Preeclampsia is adiseaseunique tohumanpregnancy.Severeproteinuria, thrombocytopenia and elevated creatinine levels arewell documented complications of the disease. We aimed to detect the frequency of these abnormalities in severe preeclamptics in Benin City, and to determine their clinical correlates.

  6. Cervical degenerative disc disease: epidemiology, natural history, clinical presentation.

    Directory of Open Access Journals (Sweden)

    L. Kollintzas


    Full Text Available Cervical Degenerative Disc Disease (CDDD is a common diagnosis for patients with neck and arm pain. Abnormal MRI or x-ray findings are not enough to establish diagnosis and propose therapeutic intervention. Epidemiology, natural history and clinical syndromes related with CDDD are presented in detail.

  7. Family history of alcohol dependence and gray matter abnormalities in non-alcoholic adults

    NARCIS (Netherlands)

    Sjoerds, Zsuzsika; Van Tol, Marie-Jose; van den Brink, Wim; Van der Wee, Nic J. A.; Van Buchem, Mark A.; Aleman, Andre; Penninx, Brenda W. J. H.; Veltman, Dick J.


    Objectives. Alcohol-use disorders in adolescents are associated with gray matter (GM) abnormalities suggesting neurotoxicity by alcohol. However, recently similar GM abnormalities were found in non-drinking children with a family history (FH) of alcohol dependence (AD). The question thus rises

  8. Oculomotor cognitive control abnormalities in Australian rules football players with a history of concussion. (United States)

    Clough, Meaghan; Mutimer, Steven; Wright, David K; Tsang, Adrian; Costello, Daniel; Gardner, Andrew; Stanwell, Peter; Mychasiuk, Richelle; Sun, Mujun; Brady, Rhys D; McDonald, Stuart John; Webster, Kyria Maree; Johnstone, Maddison; Fielding, Joanne; Semple, Bridgette; Agoston, Denes V; White, Owen B; Frayne, Richard; O'Brien, Terence John; Shultz, Sandy Richard


    This study used oculomotor, cognitive, and multimodal magnetic resonance imaging (MRI) measures to assess for neurological abnormalities in current asymptomatic amateur Australian rules footballers (i.e., Australia's most participated collision sport) with a history of sports-related concussion (SRC). Participants were 15 male amateur Australian rules football players with a history of SRC greater than 6 months previously, and 15 sex-, age- and education-matched athlete control subjects that had no history of neurotrauma or participation in collision sports. Participants completed a clinical interview, neuropsychological measures and oculomotor measures of cognitive control. MRI investigation involved structural imaging, as well as diffusion tensor imaging and resting state functional MRI sequences. Despite no group differences on conventional neuropsychological tests and multimodal MRI measures, Australian rules football players with a history of SRC performed significantly worse on an oculomotor switch task: a measure of cognitive control that interleaves the response of looking towards a target (i.e., a prosaccade) with the response of looking away from a target (i.e., an antisaccade). Specifically, Australian footballers performed significantly shorter latency prosaccades and found changing from an antisaccade trial to a prosaccade trial (switch cost) significantly more difficult than control subjects. Poorer switch cost was related to poorer performance on a number of neuropsychological measures of inhibitory control. Further, when comparing performance on the cognitively more demanding switch task with performance on simpler, antisaccade/prosaccades tasks which require a single response, Australian footballers demonstrated a susceptibility to increased cognitive load, compared to the control group who were unaffected. These initial results suggest that current asymptomatic amateur Australian rules football players with a history of SRC may have persisting

  9. Abnormal Uterine Bleeding: Current Classification and Clinical Management. (United States)

    Bacon, Janice L


    Abnormal uterine bleeding is now classified and categorized according to the International Federation of Gynecology and Obstetrics classification system: PALM-COEIN. This applies to nongravid women during their reproductive years and allows more clear designation of causes, thus aiding clinical care and future research. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia. (United States)

    Dewald, G W; Pierre, R V; Phyliky, R L


    Structural abnormalities of the X chromosome are rarely found in neoplastic disorders. We describe three patients with a history of idiopathic acquired sideroblastic anemia (IASA); each one had an abnormal clone of cells in the bone marrow, characterized by a structurally abnormal X chromosome. In two of these patients, the predominant karyotype was 47,X,2idic(X)(q13); in the other patient, it was 46,X,t(X;11)(q13;p15). Inasmuch as all three of these cases involved chromosome band Xq13, as did two previously published cases, we suggest that band Xq13 may be more prone to structural rearrangement than other X chromosome bands in hematologic disorders. The common Xq13 chromosome breakpoint and clinical presentation (IASA) among these three patients and the occurrence of an X-linked type of sideroblastic anemia may suggest that an association exists between X chromosome abnormalities and IASA. Perhaps alteration of a gene or chromosome structure in or near band Xq13 predisposes to development of IASA. The fact that two of these patients had preleukemia and the third had overt acute leukemia may imply that patients with IASA and X chromosome abnormalities have a poor prognosis. Cases of IASA without associated X chromosome abnormalities are known; thus, if an association between IASA and an abnormal X chromosome does exist, most likely it involves only some patients with IASA.

  11. ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries. (United States)

    Kwo, Paul Y; Cohen, Stanley M; Lim, Joseph K


    Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests should be termed liver chemistries or liver tests. Hepatocellular injury is defined as disproportionate elevation of AST and ALT levels compared with alkaline phosphatase levels. Cholestatic injury is defined as disproportionate elevation of alkaline phosphatase level as compared with AST and ALT levels. The majority of bilirubin circulates as unconjugated bilirubin and an elevated conjugated bilirubin implies hepatocellular disease or cholestasis. Multiple studies have demonstrated that the presence of an elevated ALT has been associated with increased liver-related mortality. A true healthy normal ALT level ranges from 29 to 33 IU/l for males, 19 to 25 IU/l for females and levels above this should be assessed. The degree of elevation of ALT and or AST in the clinical setting helps guide the evaluation. The evaluation of hepatocellular injury includes testing for viral hepatitis A, B, and C, assessment for nonalcoholic fatty liver disease and alcoholic liver disease, screening for hereditary hemochromatosis, autoimmune hepatitis, Wilson's disease, and alpha-1 antitrypsin deficiency. In addition, a history of prescribed and over-the-counter medicines should be sought. For the evaluation of an alkaline phosphatase elevation determined to be of hepatic origin, testing for primary biliary cholangitis and primary sclerosing cholangitis should be undertaken. Total bilirubin elevation can occur in either cholestatic or hepatocellular diseases. Elevated total serum bilirubin levels should be fractionated to direct and indirect bilirubin fractions and an elevated serum conjugated bilirubin implies hepatocellular disease or biliary obstruction in most settings. A liver biopsy may be considered when serologic testing and imaging

  12. Sperm DNA fragmentation abnormalities in men from couples with a history of recurrent miscarriage. (United States)

    Leach, Mikaela; Aitken, Robert J; Sacks, Gavin


    Previous studies have described an association between sperm with DNA damage and a history of recurrent miscarriage (RM), although it is not clear whether there is benefit in screening for sperm DNA fragmentation and to what extent DNA fragmentation impacts upon RM. To identify what proportion of couples experiencing RM are affected by DNA fragmentation abnormalities. In this retrospective study, between 2008 and 2013, couples with a history of recurrent miscarriage (≥3 first trimester miscarriages) were investigated comprehensively for known causes (karyotype, uterine, antiphospholipid syndrome, thrombophilia) and also by semen analysis, including DNA fragmentation [sperm chromatin structure analysis (SCSA)]. Statistical analysis was performed on SPSS software with significance taken as P fragmentation index (DFI) of 9.50%. Normal levels were found in 70.5% of men (DFI 30%). Couples with otherwise unexplained recurrent miscarriage had significantly higher DFI than those with other causes identified on routine screening (P = 0.012). In couples experiencing RM, 30% (32/108) of men had sperm with high levels of DNA fragmentation (DFI > 15%). This may be a contributing factor to the clinical syndrome of RM, and future clinical trials of therapies for these couples are warranted. © 2015 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  13. A Brief History of the Development of Abnormal Psychology: A Training Guide. Final Report. (United States)

    Phelps, William R.

    Presented for practitioners is a history of the development of abnormal psychology. Areas covered include the following: Early medical concepts, ideas carried over from literature, early treatment of the mentally ill, development of the psychological viewpoint, Freud's psychoanalytic theory, Jung's analytic theory, the individual psychology of…

  14. The role of Histopathology, Endometrium Thickness and Obstetric History in Abnormal Uterine Bleeding

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    Turkan Cengiz


    Full Text Available Aim: To evaluate the clinical manifestations of abnormal uterine bleeding (AUB, ultrasonography findings and compare with histopathological results.Material and Method: A total of 404 women with AUB were classified as; Group I: 18-39 years, Group II: 40-50 years, Group III: >50 years old. Age, parity, bleeding pattern, menstrual history, laboratory results, ultrasonography and histopathological findings were evaluated. Results: Almost half presented with AUB were in the premenopausal group [196 (48.51%], followed by 150(37.13% postmenopausal group and 58(14.36% reproductive age group. The most common bleeding pattern was menometrorrhagia followed by metrorrhagia. Endometrial pathologies were observed in 306 (75.74% and normal menstrual pattern in 98 (24.26% participants of AUB. Endometrium cancer was seen in 7 (1.7% women. In the reproductive period most common pathology was hormonal imbalance pattern. Endometrial polyp was the dominant pathology in premenopausal and postmenopausal age groups. All malignancy cases were in the postmenopausal age group. Malignancy was in 4(19.04% women who gave birth < 3 and in 1(4.76% who had %u22653 children. Four women with vaginal delivery had malignancy whereas no malignancy was seen in women with only cesarean history. Among 109 women who had endometrial thickness 4mm, 30 (10.17% had endometrial hyperplasia, 6(2.03% had endometrium cancer. Discussion: Transvaginal ultrasonography can be used as diagnostic method to evaluate endometrial thickness and differentiate uterine pathologies. However in the case of recurrent uterine bleeding, endometrial sampling should be performed disregarding ultrasonography findings.

  15. The Natural History and Clinical Presentation of Cervical Spondylotic Myelopathy

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    Chester K. Yarbrough


    Full Text Available Cervical spondylotic myelopathy (CSM refers to impaired function of the spinal cord caused by degenerative changes of the cervical spine resulting in spinal cord compression. It is the most common disorder in the United States causing dysfunction of the spinal cord. A literature review of the natural history of mild cervical myelopathy is undertaken. Clinical presentation and current concepts of pathophysiology are also discussed. While many patients with mild signs of CSM will stabilize or improve over time with conservative treatment, the clinical course of a specific individual patient cannot be predicted. Asymptomatic patients with cervical stenosis and abnormalities on electrophysiologic studies may be at higher risk for developing myelopathy.

  16. Family history of gastric mucosal abnormality and the risk of gastric cancer: a population-based observational study. (United States)

    Song, Huan; Ekheden, Isabella Guncha; Ploner, Alexander; Ericsson, Jan; Nyren, Olof; Ye, Weimin


    An increased prevalence of gastric premalignant abnormalities was reported among relatives of gastric cancer (GC) patients, with rather unexplored clinical significance. In Swedish computerized pathology registers, we identified, as 'index' persons 232 681 patients who were born after 1931 and underwent endoscopic examination with stomach biopsy between 1979 and 2014. Through linkage with the Multi-Generation Register, we compiled a cohort consisting of 903 337 first-degree relatives of these biopsied patients. The relatives were grouped according to their 'family histories', defined as the first gastric mucosal diagnosis of the index person or GC family history known before that. Standardized incidence ratios (SIRs) provided comparisons with the matched general population. For internal comparisons with relatives with 'normal/minor changes' mucosal family history, hazard ratios (HRs) were derived from adjusted Cox regression modelling. During follow-up, 1302 relatives developed GC. Crude incidence rates of non-cardia GC were 7.7 × 10-5 year-1 for the 'normal/minor changes' family history group (SIR = 1.0), 11.2 to 12.6 × 10-5 year-1 for precancerous changes groups (atrophic gastritis/intestinal metaplasia/dysplasia, SIR = 1.5 to 1.6), and 18.4 × 10-5 year-1 for those with a family history of GC (SIR = 2.3). HRs derived from Cox models corroborated the family history-related risk pattern, with the most conspicuous trend observed among siblings-a family history of any precancerous changes and GC was associated with, respectively, a 2.5-fold and a 3.8-fold increment in non-cardia GC hazard, compared with siblings of index persons with 'normal/minor mucosal changes'. The precancerous mucosal abnormalities recorded in a person's first-degree relatives may improve GC risk stratification for this person.

  17. [Clinical characteristics and treatment options of cutaneous vessel abnormalities]. (United States)

    Li, Li; Xu, Zi-Gang; Sun, Yu-Juan; Ma, Lin


    To summarize the clinical characteristics and treatment options of cutaneous vessel abnormalities. The clinical data of 384 pediatric patients with cutaneous vessel abnormalities who were treated in Beijing children's Hospital from January 2007 to December 2007 were retrospectively analyzed. Patients were classified according to International Society for the Study of Vascular Anomalies (ISSVA) classification method. Of the 384 patients, infantile hemangioma was confirmed in 185 patients (male : female = 1 : 1.7). Most children (78.4%) were taken to our department when they were within six months. The skin injuries were mainly located on the head and face (50.8%). Congenital hemangioma was confirmed in 132 patients (male : female = 1 : 1.9). Most children (75.0%) were taken to our department when they were within six months. The skin injuries were mainly located on the head and face (37.1%). Capillary malformation was confirmed in 27 patients (male: female = 1 : 1.3). Most children (40.7%) were taken to our department when they were within one year old. The skin injuries were mainly located on the head and face (77.8%). Venous malformation was confirmed in 16 patients (male : female = 1 : 1.3). Most children (31.3%) were taken to our department when they were within one year old. The skin injuries were mainly located on the head and face (56.3%). Of the 384 patients, 250 patients (65.1%) were treated by watching and waiting. Eighty of these 250 patients were followed up, which showed that, when these children were 1. 5-2 years old, the lesions' color lightened and their areas reduced by half and lesions almost disappeared in 34 patients. Infantile hemangioma and congenital hemangioma are two common cutaneous vessel abnormalities in children. Their incidences were higher in female than in male. Cutaneous vessel abnormality with endothelial cell proliferation has an earlier onset age. Skin injuries are mostly seen in face. Most pediatric patients experience good

  18. Vascular uterine abnormalities: Comparison of imaging findings and clinical outcomes. (United States)

    Hugues, Clara; Le Bras, Yann; Coatleven, Frederic; Brun, Jean-Luc; Trillaud, Hervé; Grenier, Nicolas; Cornelis, François


    To retrospectively compare the imaging findings and the outcomes for patients with vascular uterine abnormalities (VUA) and to identify prognostic factors. Between 2007 and 2012, 38 patients with vaginal bleeding and abnormal ultrasonographic (US) findings consistent with acquired VUA were consecutively included (mean age 31.6 years, range 19-62). Follow-up was 32 months in mean (1-78 months). Seventeen women (44.7%) started bleeding immediately after curettage, spontaneous miscarriage, trophoblastic disease, or section scars, with the remainder starting bleeding after 8 days to 2 years. All US, CT (n=2), MR (n=5) and angiographic (n=26) images were reviewed and compared to medical reports in order to identify severe VUA requiring treatment, and predictive factors. No information about severity was provided by US, MRI or CT. Twelve patients were successfully managed conservatively. Angiography identified 6 non-severe VUA, corresponding to an isolated uterine hyperemia, and 20 severe VUA, corresponding to an association of a nidus and early venous drainage. Recurrences were more often observed for severe VUA (p=0.001). The hemoglobin level was significantly lower (below 11 g/L) in these cases (p=0.004). Recurrences were significantly more frequently observed for patients with history of dilatation and curettage (p=0.02). Hysterectomy was performed for three patients only (8%). Among the women who wished to have children, 14 (77.8%) were pregnant after 9 months in mean (range 2-23). Recurrence happens more frequently after curettage and in case of anemia or severe VUA findings on angiography, justifying adequate embolization for these patients. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  19. Diffusion abnormality maps in demyelinating disease: correlations with clinical scores. (United States)

    Onu, Mihaela; Roceanu, Adina; Sboto-Frankenstein, Uta; Bendic, Robert; Tarta, Eugen; Preoteasa, Florentin; Bajenaru, Ovidiu


    Magnetic resonance imaging (MRI) has been explored as a noninvasive tool to assess pathology in multiple sclerosis (MS) patients. However, the correlation between classical MRI measures and physical disability is modest in MS. The diffusion tensor imaging (DTI) MRI technique holds particular promise in this regard. The present study shows brain regions where FA and individual diffusivities abnormalities are present and check their correlations with physical disability clinical scores. Eight patients and 12 matched healthy controls were recruited. The Multiple Sclerosis Functional Composite was administered. For MR-DTI acquisitions, a Genesis Signa 1.5 T MR system, an EP/SE scanning sequence, 25 gradient directions were used. Tract Based Spatial Statistics (TBSS) group comparisons showed reduced FA and increased individual diffusivities in several brain regions in patients. Significant correlations were found between FA and: EDSS, 9-HPT(NON)DOM and 25 FW score; between λ2 and: P100 (r&l), 9-HPT(NON)DOM and 25 FW; between λ3 and: 9-HPT(NON)DOM and 25 FW score. Fractional anisotropy and individual radial diffusivities proved to be important markers of motor disabilities in MS patients when the disease duration mean and the disability scores values range are relatively high. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  20. Clinical approach to a patient with abnormal uterine bleeding ...

    African Journals Online (AJOL)

    Abnormal excessive uterine bleeding forms a large proportion of gynaecological complaints. Of postpubertal girls who experience excessive menstrual loss, about one quarter will never regain a normal cycle and flow. As she grows older many other factors may arise causing menstrual abnormalities. South African Family ...

  1. Clinically palpable breast abnormalities with normal imaging: Is clinically guided biopsy still required?

    Energy Technology Data Exchange (ETDEWEB)

    Gumus, H., E-mail: [Department of Radiology, Dicle University, Medical School, Diyarbak Latin-Small-Letter-Dotless-I r (Turkey); Gumus, M. [Department of General Surgery, Dicle University, Medical School, Diyarbak Latin-Small-Letter-Dotless-I r (Turkey); Mills, P. [Department of Radiology, Maidstone Hospital, Maidstone, Kent (United Kingdom); Fish, D. [Department of Pathology, Maidstone Hospital, Maidstone, Kent (United Kingdom); Devalia, H.; Jones, S.E.; Jones, P.A. [Department of Surgery, Maidstone Hospital, Maidstone, Kent (United Kingdom); Sever, Ali R. [Department of Radiology, Maidstone Hospital, Maidstone, Kent (United Kingdom)


    Aim: To determine the need for a fine-needle or core biopsy in patients with clinically palpable breast abnormalities who have negative mammographic and sonographic findings. Method and materials: Over a 12-year period, 251 patients with a palpable abnormality at presentation and who had a negative ultrasound and mammogram underwent clinically guided biopsy (CGB) by breast surgeons. This was 2.7% (251/9313) of all breast biopsies performed from January 1999 to December 2010. Physical findings were qualitatively categorized into five groups as clinically 'normal', 'benign', 'probably benign', 'suspicious', and 'malignant' at the time of initial assessment. The number of biopsies for each category and biopsy results were analysed retrospectively. Results: Three (1.2%) of the 251 CGBs were reported as malignant; two (0.8%) of which were invasive. Forty-six (18.3%) of the 251 cases were regarded as clinically suspicious or malignant while the remaining 215 examinations were categorized as benign or probably benign. All three malignancies were in the clinically suspicious or malignant group. Conclusion: A negative ultrasound and mammogram in patients with a palpable abnormality does not exclude breast cancer; however, the likelihood is very low (1.2%). In this study, 81.7% of biopsies (205/251) could have been avoided if CGB was reserved for the clinically suspicious or malignant group only without missing any malignancies.

  2. Risk factors associated with developmental abnormalities among high-risk children attended at a multidisciplinary clinic. (United States)

    Resegue, Rosa; Puccini, Rosana Fiorini; Silva, Edina Mariko Koga da


    Knowledge of risk factors associated with child development disorders is essential for delivering high-quality childcare. The objective here was to evaluate the relationships between risk factors and occurrences of developmental abnormalities among children attended at a reference clinic for children at risk of developmental abnormalities. Retrospective study at a multidisciplinary reference center, Embu, São Paulo. All cases followed up for more than three months between 1995 and 2003 were reviewed. The risk factors assessed were low birth weight, gestational age, length of stay in neonatal ward, perinatal asphyxia, mothers age 5 days, prematurity and mothers age 18 years and older. Low birth weight, history of perinatal asphyxia and mothers age continued to be significant in multivariate analysis. Special attention must be paid to the development of low birth weight infants and/or infants with histories of neonatal complications. Low birth weight is easily assessed and should be considered to be an important marker when defining guidelines for following up child development.

  3. Risk factors associated with developmental abnormalities among high-risk children attended at a multidisciplinary clinic

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    Rosa Resegue

    Full Text Available CONTEXT AND OBJECTIVE: Knowledge of risk factors associated with child development disorders is essential for delivering high-quality childcare. The objective here was to evaluate the relationships between risk factors and occurrences of developmental abnormalities among children attended at a reference clinic for children at risk of developmental abnormalities. DESIGN AND SETTING: Retrospective study at a multidisciplinary reference center, Embu, São Paulo. METHODS: All cases followed up for more than three months between 1995 and 2003 were reviewed. The risk factors assessed were low birth weight, gestational age, length of stay in neonatal ward, perinatal asphyxia, mother’s age 5 days, prematurity and mother’s age 18 years and older. Low birth weight, history of perinatal asphyxia and mother’s age continued to be significant in multivariate analysis. CONCLUSIONS: Special attention must be paid to the development of low birth weight infants and/or infants with histories of neonatal complications. Low birth weight is easily assessed and should be considered to be an important marker when defining guidelines for following up child development.

  4. The clinical EEG and personality in mentally abnormal offenders. (United States)

    Howard, R C


    A retrospective survey was undertaken of the clinical EEG in a series of consecutive admissions to Broadmoor Special Hospital (N = 265). Following reporting of the records by visual inspection, the EEGs were classified according to 4 descriptive categories: predominantly monorhythmic; low voltage fast, 'choppy'; dysrhythmic with excess theta; and dysrhythmic with paroxysmal features. The last 3 categories constituted EEG patterns with atypical or anomalous features. The EEGs of patients with high scores on Welsh's MMPI Anxiety scale ('withdrawers') were compared with those of patients with low scores ('approachers'). Lateralization of paroxysmal EEG features was studied with reference to MMPI personality measures (Blackburn's Impulsivity and Sociability and Welsh's Anxiety), legal diagnosis, type of offence, and relationship to victim. The EEGs were studied in a further sample of 29 admissions who had been assessed, using Hare's Research Scale for the Assessment of Psychopathy (Hare, 1980). While the overall incidence of atypical EEG features reported in the present study (around 60% of cases) was comparable with that reported previously for offender populations, they occurred significantly more frequently in 'withdrawers' than in 'approachers'. This suggests that the high frequency of atypical EEG features in abnormal offenders may be due to the preponderance of 'withdrawers' in this population. Patients who had committed violent offences against strangers, as opposed to people known to them, tended to have bilateral paroxysmal features in their EEG. High scores on Hare's Psychopathy scale were significantly associated with prominent Posterior Temporal Slow Activity. The study offers some prospect that the combined use of EEG and personality assessments may be of potential value in the assessment of dangerousness.

  5. Ocular Causes of Abnormal Head Position: Strabismus Clinic Data

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    Kadriye Erkan Turan


    Full Text Available Objectives: To determine the most common ocular causes and types of abnormal head position (AHP and describe their clinical features. Materials and Methods: Patients with AHP who had been followed in the strabismus unit were retrospectively reviewed. Demographic features and orthoptic characteristics were recorded. Results: A total of 163 patients including 61 women (37.4% and 102 men (62.6%, with a mean age of 19.9±18.3 were recruited. The most common causes of AHP were determined as fourth cranial nerve palsy (33.7%, Duane retraction syndrome (21.5%, sixth cranial nerve palsy (11%, nystagmus blockage syndrome (9.8% and Brown syndrome (6.7%. Other less frequent causes were A-V pattern strabismus, comitant strabismus, thyroid orbitopathy and third cranial nerve palsy. The most common types of AHP were head tilt (45.4% and face turn (36.8%. Out of 142 patients whose visual acuity could be evaluated, 28.2% had amblyopia. The frequency of amblyopia varied depending on the diagnosis (p<0.001, while there was no relation between amblyopia and different types of AHP (p=0.497. Stereopsis and fusion could be tested in 128 patients and 43.8% of them had stereopsis and fusion. The presence of stereopsis and fusion was found to be related with the diagnosis (p=0.001, whereas it was not related with the types of AHP (p=0.580. The presence of amblyopia was not significantly associated with fusion (p=1.000 or stereopsis (p=0.602. Conclusion: There are many ocular pathologies that cause AHP. Patients with similar diagnoses may have different types of AHP. Patients may have amblyopia and impaired binocularity despite AHP. Therefore, all patients with AHP should be examined in detail and these points should be considered in the treatment plan.

  6. Abnormal Bleeding during Menopause Hormone Therapy: Insights for Clinical Management

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    Sebastião Freitas De Medeiros


    Full Text Available Objective Our objective was to review the involved mechanisms and propose actions for controlling/treating abnormal uterine bleeding during climacteric hormone therapy. Methods A systemic search of the databases SciELO, MEDLINE, and Pubmed was performed for identifying relevant publications on normal endometrial bleeding, abnormal uterine bleeding, and hormone therapy bleeding. Results Before starting hormone therapy, it is essential to exclude any abnormal organic condition, identify women at higher risk for bleeding, and adapt the regimen to suit eachwoman's characteristics. Abnormal bleeding with progesterone/progestogen only, combined sequential, or combined continuous regimens may be corrected by changing the progestogen, adjusting the progestogen or estrogen/progestogen doses, or even switching the initial regimen to other formulation. Conclusion To diminish the occurrence of abnormal bleeding during hormone therapy (HT, it is important to tailor the regimen to the needs of individual women and identify those with higher risk of bleeding. The use of new agents as adjuvant therapies for decreasing abnormal bleeding in women on HT awaits future studies.

  7. Toxoplasmosis: A history of clinical observations. (United States)

    Weiss, Louis M; Dubey, Jitender P


    It has been 100 years since Toxoplasma gondii was initially described in Tunis by Nicolle and Manceaux (1908) in the tissues of the gundi (Ctenodoactylus gundi) and in Brazil by Splendore (1908) in the tissues of a rabbit. Toxoplasma gondii is a ubiquitous, Apicomplexan parasite of warm-blooded animals that can cause several clinical syndromes including encephalitis, chorioretinitis, congenital infection and neonatal mortality. Fifteen years after the description of T. gondii by Nicolle and Manceaux a fatal case of toxoplasmosis in a child was reported by Janků. In 1939 Wolf, Cowen and Paige were the first to conclusively identify T. gondii as a cause of human disease. This review examines the clinical manifestations of infection with T. gondii and the history of the discovery of these manifestations.

  8. Chest wall abnormalities and their clinical significance in childhood. (United States)

    Koumbourlis, Anastassios C


    The thorax consists of the rib cage and the respiratory muscles. It houses and protects the various intrathoracic organs such as the lungs, heart, vessels, esophagus, nerves etc. It also serves as the so-called "respiratory pump" that generates the movement of air into the lungs while it prevents their total collapse during exhalation. In order to be performed these functions depend on the structural and functional integrity of the rib cage and of the respiratory muscles. Any condition (congenital or acquired) that may affect either one of these components is going to have serious implications on the function of the other. Furthermore, when these abnormalities occur early in life, they may affect the growth of the lungs themselves. The following article reviews the physiology of the respiratory pump, provides a comprehensive list of conditions that affect the thorax and describes their effect(s) on lung growth and function. Copyright © 2014. Published by Elsevier Ltd.

  9. Cytogenetic abnormalities and clinical stage in testicular nonseminomatous germ cell tumors

    NARCIS (Netherlands)

    de Graaff, W E; van Echten-Arends, J; Oosterhuis, J W; de Jong, B; te Meerman, G J; Wiersema-Buist, J; Sleijfer, D T; Schraffordt Koops, H


    To study the impact of chromosomal abnormalities on the clinical behavior of testicular nonseminomatous germ cell tumors (TNSGCTs), we compared the chromosomal constitution of primary tumors of patients who initially presented and remained without metastases to those with metastatic disease.

  10. The association between abnormal birth history and growth in children with CKD. (United States)

    Greenbaum, Larry A; Muñoz, Alvaro; Schneider, Michael F; Kaskel, Frederick J; Askenazi, David J; Jenkins, Randall; Hotchkiss, Hilary; Moxey-Mims, Marva; Furth, Susan L; Warady, Bradley A


    Poor linear growth is a well described complication of chronic kidney disease (CKD). This study evaluated whether abnormal birth history defined by low birth weight (LBW; factors for poor growth outcomes in children with CKD. Growth outcomes were quantified by age-sex-specific height and weight z-scores during 1393 visits from 426 participants of the Chronic Kidney Disease in Children Study, an observational cohort of children with CKD. Median baseline GFR was 42.9 ml/min per 1.73 m(2), 21% had a glomerular diagnosis, and 52% had CKD for ≥ 90% of their lifetime. A high prevalence of LBW (17%), SGA (14%), prematurity (12%), and ICU after delivery (40%) was observed. Multivariate analyses demonstrated a negative effect of LBW (-0.43 ± 0.14; P height and -0.37 ± 0.16; P = 0.02 for weight) and of SGA (-0.29 ± 0.16; P = 0.07 for height and -0.41 ± 0.19; P = 0.03 for weight) on current height and weight. In children with glomerular versus nonglomerular diagnoses, the effect of SGA (-1.08 versus -0.18; P = 0.029) on attained weight was more pronounced in children with a glomerular diagnosis. LBW and SGA are novel risk factors for short stature and lower weight percentiles in children with mild to moderate CKD independent of kidney function.

  11. CT abnormality in multiple sclerosis analysis based on 28 probable cases and correlation with clinical manifestations

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    Kakigi, R.; Shibasaki, H.; Tabira, T.; Kuroiwa, Y. (Kyushu Univ., Fukuoka (Japan). Faculty of Medicine); Numaguchi, Y.


    In order to investigate the occurrence and nature of CT abnormality and its correlation with clinical manifestations in multiple sclerosis, 34 CT records obtained from 28 consecutive patients with probable multiple sclerosis were reviewed. Forty-six percent of all cases showed abnormal CT. Dilatation of cortical sulci was found in 39%; dilatation of the lateral ventricle in 36%; dilatation of prepontine or cerebello-pontine cistern and the fourth ventricle, suggesting brainstem atrophy, in 18%; dilatation of cerebellar sulci, superior cerebellar cistern and cisterna magna, suggesting cerebellar atrophy, in 11%. Low density area was found in the cerebral hemisphere in 11% of cases. Contrast enhancement, performed on 25 CT records, did not show any change. There was no correlation between CT abnormality and duration of the illness. Although abnormal CT tended to occur more frequently during exacerbations and chronic stable state than during remissions, the difference was not statistically significant. CT abnormalities suggesting brainstem atrophy, cerebellar atrophy or plaques were found exclusively during exacerbations and chronic stable state. The occurrence of CT abnormalities was not significantly different among various clinical forms which were classified based on clinically estimated sites of lesion, except that abnormal CT tended to occur less frequently in cases classified as the optic-spinal form. It is noteworthy that cerebral cortical atrophy and/or dilatation of the lateral ventricle were found in 31% of cases who did not show any clinical sign of cerebral involvement. There was a statistically significant correlation between CT abnormalities and levels of clinical disability. Eighty percent of the bedridden or severely disabled patients showed abnormal CT, in contrast with only 29% of those with moderate, slight or no disability.

  12. Clinical and Biochemical Characteristics in PCOS Women With Menstrual Abnormalities (United States)

    Christodoulopoulou, Vasiliki; Trakakis, Eftihios; Pergialiotis, Vasilios; Peppa, Melpomeni; Chrelias, Charalampos; Kassanos, Dimitrios; Papantoniou, Nikolaos


    Objective: The purpose of the present study was to examine the impact of menstrual cycle abnormalities among patients with polycystic ovary syndrome (PCOS) on biochemical and anthropometric characteristics. Materials and methods: We conducted a prospective observational study of patients 17-35 years of age with PCOS that attended the department of Gynecological Endocrinology of our hospital. Results: A total of 309 women with PCOS participated in the study. In total, 72.2% suffered from menstrual cycle disorders. In our study 15.1% of women were overweight and 24% were obese. Also, 36% of the sample had androgenetic alopecia and 56.4% had acne. According to the stepwise discriminant analysis, we observed that glucose displayed the strongest association to the menstrual status (F to eliminate = 14.13), followed by endometrial thickness (F to eliminate = 10.89), waist circumference (F to eliminate = 10.17), LH levels (F to eliminate = 8.15) and PRL (F to eliminate = 4.45). Significantly higher levels of LH and TSH and lower levels of prolactin were found in women with menstrual disorders compared to those with normal menstrual cycles. Fasting glucose was also considerably higher among these patients although markers of insulin resistance such as the Matsuda, Quicki and HOMA-IR indices did not differ. Conclusion: According to the findings of our study PCOS patients with menstrual disorders exhibit hormonal alterations and elevated fasting glucose. Future studies are needed in this field to corroborate our findings and determine the anthropometric and biochemical profile of patients with menstrual cycle irregularities. PMID:28546817

  13. Abnormalities of laboratory coagulation tests versus clinically evident coagulopathic bleeding

    DEFF Research Database (Denmark)

    Chang, Ronald; Fox, Erin E; Greene, Thomas J


    BACKGROUND: Laboratory-based evidence of coagulopathy (LC) is observed in 25-35% of trauma patients, but clinically-evident coagulopathy (CC) is not well described. METHODS: Prospective observational study of adult trauma patients transported by helicopter from the scene to nine Level 1 trauma...

  14. Clinical factors associated with abnormal postures in Parkinson's disease.

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    Tomoko Oeda

    Full Text Available BACKGROUND: Abnormal posture (AP is often seen in Parkinson's disease (PD, and marked forms known as dropped head syndrome and camptocormia encumber daily living activities. Unlike other motor disabilities such as bradykinesia or muscular rigidity, AP is not always improved but rather deteriorated by PD medication. PURPOSE: To clarify factors associated with neck and thoracolumbar AP. METHODS: Neck flexion (NF and thoracolumbar (TL angles were measured in 216 consecutive PD patients and 175 elderly healthy controls. The differences in NF and TL angles between PD patients and controls were designated as ΔNFA and ΔTLA, respectively. The association of ΔNFA or ΔTLA and predictable factors such as age, sex, duration of PD, Hoehn Yahr (H-Y stage, Unified Parkinson's Disease Rating Scale Part 3 (UPDRS-3, daily dose of dopamine agonists, and comorbid orthopedic spinal lesions was investigated in PD patients. Patients were divided into quartiles according to ΔNFA or ΔTLA. The association between predictable factors and ΔNFA or ΔTLA was estimated as odds ratio (OR, comparing with the lowest quartile as the reference by multivariate regression analysis. RESULTS: Compared with controls, distributions of all three posture angles were significantly shifted rightward in PD patients. Although there were no difference in UPDRS-3 scores in the quartiles of ΔNFA, the highest quartile was associated with H-Y stage ≥3 [OR 2.99, 95% confidence interval (CI 1.33-6.70, p = 0.008] after adjustment for age, sex and comorbid orthopedic spinal lesions. The highest quartile of ΔTLA was associated with comorbid orthopedic spinal lesions [OR 5.83 (1.42-23.8, p = 0.014], and UPDRS-3 score [OR 3.04 (1.80-5.15/10 points, p<0.0001]. CONCLUSION: Thoraco-lumbar AP was associated with UPDRS-3 scores and orthopedic spinal lesions, and in contrast, neck AP was not associated with these factors, suggesting that they had different pathomechanisms.

  15. Cockayne syndrome without typical clinical manifestations including neurologic abnormalities. (United States)

    Miyauchi-Hashimoto, H; Akaeda, T; Maihara, T; Ikenaga, M; Horio, T


    Although patients with mild symptoms of atypical Cockayne syndrome (CS) have been described, there has not been a report of a patient with CS whose only clinical manifestation was cutaneous photosensitivity. Cells from patients with CS show UV sensitivity, reduced recovery of RNA synthesis, but normal UV-induced unscheduled DNA synthesis. On the other hand, the patients with UV-sensitive syndrome have only cutaneous photosensitivity and skin freckles, whereas those cells respond to UV radiation in a similar fashion to the CS cells. We describe a patient with CS who showed only photosensitivity without typical clinical manifestations of CS, but his cells showed UV sensitivity, reduced recovery of RNA synthesis, and normal unscheduled DNA synthesis after UV radiation similar to CS cells. Furthermore, the patient was assigned to complementation group B of CS on the basis of the results of complementation analysis. The present report suggests that CS has a wider spectrum than that considered previously.

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

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    Laura Gasbarrone


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

  17. Clinical and genetic abnormalities in patients with Friedreich's ataxia. (United States)

    Dürr, A; Cossee, M; Agid, Y; Campuzano, V; Mignard, C; Penet, C; Mandel, J L; Brice, A; Koenig, M


    Friedreich's ataxia, the most common inherited ataxia, is associated with a mutation that consists of an unstable expansion of GAA repeats in the first intron of the frataxin gene on chromosome 9, which encodes a protein of unknown function. We studied 187 patients with autosomal recessive ataxia, determined the size of the GAA expansions, and analyzed the clinical manifestations in relation to the number of GAA repeats and the duration of disease. One hundred forty of the 187 patients, with ages at onset ranging from 2 to 51 years, were homozygous for a GAA expansion that had 120 to 1700 repeats of the trinucleotides. About one quarter of the patients, despite being homozygous, had atypical Friedreich's ataxia; they were older at presentation and had intact tendon reflexes. Larger GAA expansions correlated with earlier age at onset and shorter times to loss of ambulation. The size of the GAA expansions (and particularly that of the smaller of each pair) was associated with the frequency of cardiomyopathy and loss of reflexes in the upper limbs. The GAA repeats were unstable during transmission. The clinical spectrum of Friedreich's ataxia is broader than previously recognized, and the direct molecular test for the GAA expansion on chromosome 9 is useful for diagnosis, determination of prognosis, and genetic counseling.

  18. [Abnormality of blood coagulation indexes in patients with de novo acute leukemia and its clinical significance]. (United States)

    Xiao, Fang-Fang; Hu, Kai-Xun; Guo, Mei; Qiao, Jian-Hui; Sun, Qi-Yun; Ai, Hui-Sheng; Yu, Chang-Lin


    To explore hemorrhage risk and the clinical significance of abnormal change of prothrombin time (PT), activated partial thromboplastin time (APTT), plasma fibrinogen (FIB), plasma thrombin time (TT) and d-dimer (D-D) in de novo acute leukemia (except for APL), the different bleeding manifestations of 114 cases of de novo acute leukemia with different coagulation indexes were analyzed retrospectively. The correlation between these blood coagulation indexes and the possible correlative clinical characteristics were analysed, including age, sex, type of acute leukemia, initial white blood cell(WBC) and platelet(Plt) count, the proportion of blast cells in bone marrow and cytogenetic abnormality of patients at diagnosis. The results indicated that the incidence of abnormal blood coagulation was as high as 78.1% for de novo AL patients. These patients with 5 normal blood coagulation indexes may have mild bleeding manifestation, but the more abnormal indexes, the more severe bleeding. Both PT and D-D were sensitive indexes for diagnosis of level II bleeding. Incidence of abnormal blood coagulation significantly correlates with the proportion of blast cells in bone marrow (χ(2) = 4.184, OR = 1.021, P coagulation. It is concluded that the coagulation and fibrinolysis are abnormal in most patients with de novo acute leukemia. More abnormal indexes indicate more severe bleeding, and both PT and D-D are sensitive indexes for diagnosis of level II bleeding. Higher proportion of blast cells in bone marrow predicts higher incidence of abnormal blood clotting. Acute leukemia with elderly age, high white blood cell count and adverse cytogenetics do not predict severer abnormal blood clotting. Detection of PT, APTT, TT, FIB, and D-D may help to judge whether the patients are in a state of hypercoagulability or disseminated intravenous coagulation, which will provide experiment evidences for early intervention and medication.

  19. [Abnormal Karyotypes Involving 1q21 and 12p13 and Their Clinical Significance]. (United States)

    Jia, Ru; Sun, Wan-Ling


    Many hematological malignances involve recurrent chromosomal abnormalities, and the reciprocal translocation is one of them. However, there are a lot of chromosomal abnormalities with lower incidence and unclear clinical significance. Among them, the one abnormal karyotype translocation, t (1;12) (q21; p13) is a rare karyotype change. Only 6 patients had been reported to have this karyotype and all of them suffered from hematologic diseases, including one case of acute myeloid leukemia, one case of high-risk myelodysplastic syndrome, two children with acute lymphoblastic leukemia, one case of chronic myeloid leukemia at accelerated phase and one case of multiple myeloma. Among them, the fusion gene were detectable in two cases. In this article, the common chromoscme karyotype abnormality involving 1q21 and 12p13, and genes involving in these regious are summarized, moreover the reported cases of t(1;12) (q21;p13) are reviewed.

  20. [The relationship between clinical outcomes of reproduc-tive abnormalities and chromosome polymorphism]. (United States)

    Wang, Xiao-Rong; Deng, Jian-Xia; Li, Jin-Jin


    To study the relationship between chromosome polymorphism and clinical effect of reproductive abnormalities, we prepared chromosomes from peripheral blood lymphocytes and carried out G/C banding and karyotype analyses. Out of 1 414 cases who came in for genetic counseling, 273 had chromosome abnormalities. Among these 273 cases, 180 cases (65.93%) were karyotype variations, with the remaining 93 cases (34.07%) being non-polymorphic chromosomal abnormalities. Karyotype variations included 10 cases of satellite increases in the D/G group, 35 cases of secondary constriction increases, 99 cases of big or small Y chromosome, 6 cases of pericentric inversion of chromosome Y and 30 cases of pericentric inversion of chromosome 9. These results indicated that clinical effect such as abortion, sterility, stillbirth and congenital malformation are mainly related to chromosome polymorphisms.

  1. Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes. (United States)

    Yorifuji, T; Matsubara, K; Sakakibara, A; Hashimoto, Y; Kawakita, R; Hosokawa, Y; Fujimaru, R; Murakami, A; Tamagawa, N; Hatake, K; Nagasaka, H; Suzuki, J; Urakami, T; Izawa, M; Kagami, M


    Abnormalities in the imprinted locus on chromosome 6q24 are the most common causes of transient neonatal diabetes mellitus (6q24-related transient neonatal diabetes). 6q24-Related transient neonatal diabetes is characterized by the patient being small-for-gestational age, diabetes mellitus at birth, spontaneous remission within the first few months and frequent recurrence of diabetes after childhood. However, it is not clear whether individuals with 6q24 abnormalities invariably develop transient neonatal diabetes. This study explored the possibility that 6q24 abnormalities might cause early-onset, non-autoimmune diabetes without transient neonatal diabetes. The 6q24 imprinted locus was screened for abnormalities in 113 Japanese patients with early-onset, non-obese, non-autoimmune diabetes mellitus who tested negative for mutations in the common maturation-onset diabetes of the young (MODY) genes and without a history of transient neonatal diabetes. Positive patients were further analysed by combined loss of heterozygosity / comparative genomic hybridization analysis and by microsatellite analysis. Detailed clinical data were collected through the medical records of the treating hospitals. Three patients with paternal uniparental isodisomy of chromosome 6q24 were identified. None presented with hyperglycaemia in the neonatal period. Characteristically, these patients were born small-for-gestational age, representing 27.2% of the 11 patients whose birth weight standard deviation score (SDS) for gestational age was below -2.0. Abnormalities in the imprinted locus on chromosome 6q24 do not necessarily cause transient neonatal diabetes. Non-penetrant 6q24-related diabetes could be an underestimated cause of early-onset, non-autoimmune diabetes in patients who are not obese and born small-for-gestational age. © 2015 The Authors. Diabetic Medicine © 2015 Diabetes UK.

  2. Clinical Spectrum, Risk Factors, and Behavioral Abnormalities among Dementia Subtypes in a North Indian Population: A Hospital-Based Study

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    Suman Kushwaha


    Full Text Available Background: As variability in the clinical profile of dementia subtypes had been reported with regional differences across the world, we conducted a retrospective hospital-based study in a North Indian population. Methods: We retrieved patient records from 2007 to 2014 for details of clinical evaluation, diagnosis, neuroimaging, biochemical investigations, and follow-up of 1,876 patients with dementia (PwD, and the data were analyzed using descriptive statistics. Results: Of the total PwD, Alzheimer disease (AD accounted for 30% followed by vascular dementia (VaD 26%, mixed dementia (MD 21%, Parkinson-related dementia 11%, frontotemporal dementia (FTD 7%, and infective dementia 5%. Of all PwD excluding the infective group (n = 1,777, 63% were men, 39% were from rural areas, 87% had behavioral abnormalities along with cognitive deficits, and 73% had impaired ADLs. Among dementia subtypes, a positive family history, cardiovascular and metabolic risk factors, and behavioral abnormalities were found to be distributed. However, there existed a predominance of specific behavioral pattern in each subtype. The mean duration of follow-up varied from 2.9 ± 2.3 (VaD to 3.6 ± 2.1 (AD and greater than 30% were found to be stable on treatment (except in dementia with Lewy body. Conclusions: This large hospital-based study provides a distribution pattern and clinical spectrum of dementia subtypes in a North Indian population.

  3. Evaluation of family history information within clinical documents and adequacy of HL7 clinical statement and clinical genomics family history models for its representation: a case report. (United States)

    Melton, Genevieve B; Raman, Nandhini; Chen, Elizabeth S; Sarkar, Indra Neil; Pakhomov, Serguei; Madoff, Robert D


    Family history information has emerged as an increasingly important tool for clinical care and research. While recent standards provide for structured entry of family history, many clinicians record family history data in text. The authors sought to characterize family history information within clinical documents to assess the adequacy of existing models and create a more comprehensive model for its representation. Models were evaluated on 100 documents containing 238 sentences and 410 statements relevant to family history. Most statements were of family member plus disease or of disease only. Statement coverage was 91%, 77%, and 95% for HL7 Clinical Genomics Family History Model, HL7 Clinical Statement Model, and the newly created Merged Family History Model, respectively. Negation (18%) and inexact family member specification (9.5%) occurred commonly. Overall, both HL7 models could represent most family history statements in clinical reports; however, refinements are needed to represent the full breadth of family history data.

  4. The Accuracy of the VISA-P Questionnaire, Single-Leg Decline Squat, and Tendon Pain History to Identify Patellar Tendon Abnormalities in Adult Athletes. (United States)

    Mendonça, Luciana de Michelis; Ocarino, Juliana Melo; Bittencourt, Natália Franco Netto; Fernandes, Ludmila Maria Oliveira; Verhagen, Evert; Fonseca, Sérgio Teixeira


    Study Design Cross-sectional clinical assessment. Background Patellar tendinopathy is not always accompanied by patellar tendon abnormalities (PTAs). Thus, clinical screening tools to help identify patients with patellar tendon pain who have PTAs could enhance clinical decision making and patient prognosis. Objectives To test the diagnostic accuracy of the Victorian Institute of Sport Assessment-Patella (VISA-P) questionnaire, a single-leg decline squat (SLDS), tendon pain history, age, and years of sports participation to identify athletes with symptomatic patellar tendons who have PTAs confirmed on imaging. Methods Data provided by ultrasound examination, the VISA-P questionnaire, the SLDS, tendon pain history, age, and years of sport participation were collected in 43 athletes. A classification and regression tree (CART) model was developed to verify variables associated with PTA occurrence. Likelihood ratios (LRs) were computed for positive and negative tests. Results The SLDS, VISA-P questionnaire, and tendon pain history were associated with PTA occurrence. Athletes with negative results on all 3 tests (CART model) had a lower likelihood of having PTAs (negative LR = 0.3; 95% confidence interval [CI]: 0.2, 0.5). The isolated use of the SLDS or tendon pain history (positive LR = 4.2; 95% CI: 2.3, 7.14 and 4.5; 95% CI: 1.8, 11.1, respectively) had similar influence on probability of PTA presence compared to the CART model (positive LR = 4.1; 95% CI: 2.5, 6.3). Conclusion Although the objective was to investigate a clinical test to identify PTAs, the combined use of the tests had greater accuracy to identify individuals without PTAs. Level of Evidence Diagnosis, level 3b. J Orthop Sports Phys Ther 2016;46(8):673-680. Epub 3 Jul 2016. doi:10.2519/jospt.2016.6192.

  5. Congenital Abnormalities (United States)

    ... Ribbon Commands Skip to main content Turn off Animations Turn on Animations Our Sponsors Log in | Register Menu Log in | ... course of action. Additional Information Your Family Health History & Genetics Detecting Genetic Abnormalities Prenatal Genetic Counseling Children ...

  6. Delay discounting behavior and white matter microstructure abnormalities in youth with a family history of alcoholism. (United States)

    Herting, Megan M; Schwartz, Daniel; Mitchell, Suzanne H; Nagel, Bonnie J


    Youth with family history of alcohol abuse have a greater risk of developing an alcohol use disorder (AUD). Brain and behavior differences may underlie this increased vulnerability. The current study examined delay discounting behavior and white matter microstructure in youth at high risk for alcohol abuse, as determined by a family history of alcoholism (FH+), and youth without such family history (FH-). Thirty-three healthy youth (FH+ = 15, FH- = 18), ages 11 to 15 years, completed a delay discounting task and underwent diffusion tensor imaging. Tract-based spatial statistics (Smith et al., 2006), as well as follow-up region-of-interest analyses, were performed to compare fractional anisotropy (FA) between FH+ and FH- youth. FH+ youth showed a trend toward increased discounting behavior and had significantly slower reaction times (RTs) on the delay discounting paradigm compared to FH- youth. Group differences in FA were seen in several white matter tracts. Furthermore, lower FA in the left inferior longitudinal fasciculus and the right optic radiation statistically mediated the relationship between FH status and slower RTs on the delay discounting task. Youth with a family history of substance abuse have disrupted white matter microstructure, which likely contributes to less efficient cortical processing and may act as an intrinsic risk factor contributing to an increased susceptibility of developing AUD. In addition, FHP youth showed a trend toward greater impulsive decision making, possibly representing an inherent personal characteristic that may facilitate substance use onset and abuse in high-risk youth.

  7. A Short History of Clinical Holistic Medicine


    Søren Ventegodt; Isack Kandel; Joav Merrick


    Clinical holistic medicine has its roots in the medicine and tradition of Hippocrates. Modern epidemiological research in quality of life, the emerging science of complementary and alternative medicine, the tradition of psychodynamic therapy, and the tradition of bodywork are merging into a new scientific way of treating patients. This approach seems able to help every second patient with physical, mental, existential or sexual health problem in 20 sessions over one year. The paper discusses ...

  8. Examination history and abnormal thyroid and breast lesions according to residential distance from nuclear power plants

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    Lim, Young Khi [Dept. of Radiological Science, Gachon University, Incheon (Korea, Republic of)


    Ascertainment bias are common in epidemiologic studies to assess the association between thyroid cancer risk and living near nuclear power plants because many thyroid cancers are diagnosed by chance through health examination. We surveyed the ultra sonography (USG) examination history and conducted thyroid and breast USG in residents living near nuclear power plants. The study population comprised 2,421 residents living near nuclear power plants in Korea. Information on demographic characteristics, including diagnostic examination history, was collected by interview using questionnaires. USG examination was conducted to evaluate the presence of thyroid nodules and breast lesion. Study participants were divided into 3 groups according to the distance of their respective villages from a nuclear power plant. The proportions of USG examination history and prevalence of thyroid nodules and breast lesions were compared between groups. Examination histories of thyroid USG were 23.1%, 13.7%, and 10.5% in men and 31.3%, 26.7%, 18.3% in women in the short, intermediate, and long distance groups, respectively. There were significant inverse associations between thyroid USG history and the distance from nuclear power plants (P for trend=0.001 for men and 0.017 for women). However, there was no association between the distance of villages from nuclear power plants and prevalence of thyroid nodules. Our results suggest that there may be an ascertainment bias in population-based studies examining the harmful effects of NPPs examination and researchers should pay attention to ascertainment bias resulted from differential health examination. Correction for ascertainment bias, active follow-up and examination for all study population to remove differential health examination is needed.

  9. Palpable pediatric thyroid abnormalities – diagnostic pitfalls necessitate a high index of clinical suspicion: a case report

    Directory of Open Access Journals (Sweden)

    Klopper Joshua P


    Full Text Available Abstract A 12-year-old girl presented with a 4 year history of an enlarged, firm thyroid gland. On exam, her thyroid was firm and fixed and an enlarged cervical lymph node was palpable as well. Though a thyroid ultrasound prior to referral was read as thyroiditis, clinical suspicion for thyroid carcinoma mandated continued investigation. The diagnosis of papillary thyroid cancer was established and her workup revealed lymph node metastases as well as a tremendous burden of pulmonary metastases. Pediatric thyroid cancer is extremely rare, but often presents with aggressive disease. Palpable thyroid abnormalities in an individual under 20-years-old should be viewed with suspicion and should be thoroughly investigated to rule out malignancy even in the face of negative diagnostic procedures. Though pediatric papillary thyroid cancer often presents with loco-regional and even distant metastatic disease, mortality rates in follow-up for as long as 20 years are very favorable.

  10. Clinical Symptoms of Minor Head Trauma and Abnormal Computed Tomography Scan

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    Full Text Available Background Minor head trauma accounts for 70% to 90% of all head traumas. Previous studies stated that minor head traumas were associated with 7% - 20% significant abnormal findings in brain computed tomography (CT-scans. Objectives The aim of this study was to reevaluate clinical criteria of taking brain CT scan in patients who suffered from minor head trauma. Patients and Methods We enrolled 680 patients presented to an academic trauma hospital with minor head trauma in a prospective manner. All participants underwent brain CT scan if they met the inclusion criteria and the results of scans were compared with clinical examination finding. Results Loss of consciousness (GCS drop or amnesia was markedly associated with abnormal brain CT scan (P < 0.05. Interestingly, we found 7 patients with normal clinical examination but significant abnormal brain CT scan. Conclusions According to the results of our study, we recommend that all patients with minor head trauma underwent brain CT scan in order not to miss any life-threatening head injuries.

  11. A Short History of Clinical Holistic Medicine

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    Søren Ventegodt


    Full Text Available Clinical holistic medicine has its roots in the medicine and tradition of Hippocrates. Modern epidemiological research in quality of life, the emerging science of complementary and alternative medicine, the tradition of psychodynamic therapy, and the tradition of bodywork are merging into a new scientific way of treating patients. This approach seems able to help every second patient with physical, mental, existential or sexual health problem in 20 sessions over one year. The paper discusses the development of holistic medicine into scientific holistic medicine with discussion of future research efforts.

  12. A short history of clinical holistic medicine. (United States)

    Ventegodt, Søren; Kandel, Isack; Merrick, Joav


    Clinical holistic medicine has its roots in the medicine and tradition of Hippocrates. Modern epidemiological research in quality of life, the emerging science of complementary and alternative medicine, the tradition of psychodynamic therapy, and the tradition of bodywork are merging into a new scientific way of treating patients. This approach seems able to help every second patient with physical, mental, existential or sexual health problem in 20 sessions over one year. The paper discusses the development of holistic medicine into scientific holistic medicine with discussion of future research efforts.

  13. [Obsessions before Freud: history and clinical practice]. (United States)

    Huertas, Rafael


    The article analyses the significance of the concept of "obsession" in nineteenth-century alienism. From a clinical point of view, Esquirol's description was completed by other authors (Jules Falret, Legrand du Saulle). In the area of psychopathological studies, French alienism, with Morel's emotional delirium or Janet's psychasthenia, defended the emotional theory, as opposed to the intellectual disorder proposed by German doctors. Lastly, the importance of the cultural framework is stressed in the appearance of obsessive symptoms and their interpretation. Along these lines, the article discusses the relationship of religious scruples to melancholy or the appearance of diagnostic categories subject to fin de siècle codes and mentalities.

  14. The clinical and prognostic value of motor abnormalities in psychosis, and the importance of instrumental assessment. (United States)

    van Harten, Peter N; Walther, Sebastian; Kent, Jerillyn S; Sponheim, Scott R; Mittal, Vijay A


    Motor abnormalities comprise several clinical signs intrinsic to psychosis. Critically, these features are of prognostic value in individuals at-risk for psychosis, and for those in early stages of psychotic disorders. Motor abnormalities such as tremor, rigidity, and neurological soft signs often go unrecognized. Currently, advances in this area are limited by a paucity of theoretical conceptions categorizing or linking these behaviours to underlying neurobiology affected in psychosis. However, emerging technological advances have significantly improved the ability to detect and assess motor abnormalities with objective instruments in a timely and reliable manner. Further, converging evidence has laid the groundwork for theoretically and empirically derived categorization and conceptualization. This review summarizes these advances, stressing the importance of motor abnormalities for understanding vulnerability across different stages of psychosis and introducing these innovative instrumental approaches. Patients, researchers and clinicians will benefit from these new developments, as better assessment aids the development of targeted interventions to ultimately improve the care for individuals experiencing psychosis. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. Clinical prediction of fall risk and white matter abnormalities: a diffusion tensor imaging study. (United States)

    Koo, Bang-Bon; Bergethon, Peter; Qiu, Wei Qiao; Scott, Tammy; Hussain, Mohammed; Rosenberg, Irwin; Caplan, Louis R; Bhadelia, Rafeeque A


    The Tinetti scale is a simple clinical tool designed to predict risk of falling by focusing on gait and stance impairment in elderly persons. Gait impairment is also associated with white matter (WM) abnormalities. To test the hypothesis that elderly subjects at risk for falling, as determined by the Tinetti scale, have specific patterns of WM abnormalities on diffusion tensor imaging. Community-based cohort of 125 homebound elderly individuals. Diffusion tensor imaging scans were analyzed using tract-based spatial statistics analysis to determine the location of WM abnormalities in subjects with Tinetti scale scores of 25 or higher (without risk of falls) and lower than 25 (with risk of falls).Multivariate linear least squares correlation analysis was performed to determine the association between Tinetti scale scores and local fractional anisotropy values on each skeletal voxel controlling for possible confounders. In subjects with risk of falls (Tinetti scale score Tinetti scale have WM abnormalities in specific locations on diffusion tensor imaging, some of which correlate with cognitive function scores.

  16. A common clinical dilemma: Management of abnormal vaginal cytology and human papillomavirus test results. (United States)

    Khan, Michelle J; Massad, L Stewart; Kinney, Walter; Gold, Michael A; Mayeaux, E J; Darragh, Teresa M; Castle, Philip E; Chelmow, David; Lawson, Herschel W; Huh, Warner K


    Vaginal cancer is an uncommon cancer of the lower genital tract, and standardized screening is not recommended. Risk factors for vaginal cancer include a history of other lower genital tract neoplasia or cancer, smoking, immunosuppression, and exposure to diethylstilbestrol in utero. Although cervical cancer screening after total hysterectomy for benign disease is not recommended, many women inappropriately undergo vaginal cytology and/or human papillomavirus (hrHPV) tests, and clinicians are faced with managing their abnormal results. Our objective is to review the literature on vaginal cytology and hrHPV testing and to develop guidance for the management of abnormal vaginal screening tests. An electronic search of the PubMed database through 2015 was performed. Articles describing vaginal cytology or vaginal hrHPV testing were reviewed, and diagnostic accuracy of these tests when available was noted. The available literature was too limited to develop evidence-based recommendations for managing abnormal vaginal cytology and hrHPV screening tests. However, the data did show that 1) the risk of vaginal cancer in women after hysterectomy is extremely low, justifying the recommendation against routine screening, and 2) in women for whom surveillance is recommended, e.g. women post-treatment for cervical precancer or cancer, hrHPV testing may be useful in identification of vaginal cancer precursors. Vaginal cancer is rare, and asymptomatic low-risk women should not be screened. An algorithm based on expert opinion is proposed for managing women with abnormal vaginal test results. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  17. Colloidal oatmeal: history, chemistry and clinical properties. (United States)

    Kurtz, Ellen S; Wallo, Warren


    Oatmeal has been used for centuries as a soothing agent to relieve itch and irritation associated with various xerotic dermatoses. In 1945, a ready to use colloidal oatmeal, produced by finely grinding the oat and boiling it to extract the colloidal material, became available. Today, colloidal oatmeal is available in various dosage forms from powders for the bath to shampoos, shaving gels, and moisturizing creams. Currently, the use of colloidal oatmeal as a skin protectant is regulated by the U.S. Food and Drug Administration (FDA) according to the Over-The-Counter Final Monograph for Skin Protectant Drug Products issued in June 2003. Its preparation is also standardized by the United States Pharmacopeia. The many clinical properties of colloidal oatmeal derive from its chemical polymorphism. The high concentration in starches and beta-glucan is responsible for the protective and water-holding functions of oat. The presence of different types of phenols confers antioxidant and anti-inflammatory activity. Some of the oat phenols are also strong ultraviolet absorbers. The cleansing activity of oat is mostly due to saponins. Its many functional properties make colloidal oatmeal a cleanser, moisturizer, buffer, as well as a soothing and protective anti-inflammatory agent.

  18. Abnormal visual experiences in individuals with histories of hallucinogen use: a Web-based questionnaire. (United States)

    Baggott, M J; Coyle, J R; Erowid, E; Erowid, F; Robertson, L C


    Despite longstanding reports of prolonged or reoccurring perceptual changes in a subset of hallucinogen users, very little is known about Hallucinogen Persisting Perception Disorder and related visual abnormalities in hallucinogen users. We used an online questionnaire to document the symptoms and relationship to drug use of unusual visual phenomena in hallucinogen users. 16,192 individuals viewed the information sheet and 2679 were included in the study. Of these, 224 reported having unrelated diagnoses associated with unusual visual experiences and were excluded from main analyses. Most (60.6%) of the remaining 2455 participants reported having experienced drug-free visual experiences that resembled hallucinogen effects. Probability of experiencing constant or near-constant symptoms was predicted by greater past exposure to specific hallucinogens, including lysergic acid diethylamide (LSD). Although symptoms were common, few (104, or 4.2% of the sample) found them distressing or impairing enough to consider seeking treatment. Visual changes in hallucinogen users may be more common than previously suspected and are worthy of further study. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  19. Clinical significance of mesenteric panniculitis-like abnormalities on abdominal computerized tomography in patients with malignant neoplasms. (United States)

    Ehrenpreis, Eli D; Roginsky, Grigory; Gore, Richard M


    To clarify the association of malignancy with mesenteric panniculitis-like changes on computed tomography (CT). All abdominal CT scans performed at NorthShore University HealthSystem showing mesenteric panniculitis from January 2005 to August 2010 were identified in the Radnet (RadNet Corporation, Los Angeles, CA) database. Patients with a new or known diagnosis of a malignancy were included for this analysis. Longitudinal clinical histories were obtained from electronic medical records. In total, 147794 abdominal CT scans were performed during the study period. Three hundred and fifty-nine patients had mesenteric panniculitis (MP)-like abnormalities on their abdominal CT. Of these patients, 81 patients (22.6%) had a known history of cancer at the time of their CT scan. Nineteen (5.3%) had a new diagnosis of cancer in concurrence with their CT, but the majority of these (14/19, 74%) were undergoing CT as part of a malignancy evaluation. Lymphomas were the most common cancers associated with MP-like findings on CT (36 cases, 36%), with follicular lymphoma being the most frequent subtype (17/36). A variety of solid tumors, most commonly prostate (7) and renal cell cancers (6) also were seen. CT follow up was obtained in 56 patients. Findings in the mesentery were unchanged in 45 (80%), worsened in 6 (11%), and improved in 5 patients (9%). Positron emission tomography (PET) scans performed in 44 patients only showed a positive uptake in the mesenteric mass in 2 patients (5%). A new diagnosis of cancer is uncommon in patients with CT findings suggestive of MP. MP-like mesenteric abnormalities on CT generally remain stable in patients with associated malignancies. PET scanning is not recommended in the evaluation of patients with mesenteric panniculitis-like findings on CT.

  20. Perinatal clinical antecedents of white matter microstructural abnormalities on diffusion tensor imaging in extremely preterm infants.

    Directory of Open Access Journals (Sweden)

    Ulana Pogribna

    Full Text Available To identify perinatal clinical antecedents of white matter microstructural abnormalities in extremely preterm infants.A prospective cohort of extremely preterm infants (N = 86 and healthy term controls (N = 16 underwent diffusion tensor imaging (DTI at term equivalent age. Region of interest-based measures of white matter microstructure - fractional anisotropy and mean diffusivity - were quantified in seven vulnerable cerebral regions and group differences assessed. In the preterm cohort, multivariable linear regression analyses were conducted to identify independent clinical factors associated with microstructural abnormalities.Preterm infants had a mean (standard deviation gestational age of 26.1 (1.7 weeks and birth weight of 824 (182 grams. Compared to term controls, the preterm cohort exhibited widespread microstructural abnormalities in 9 of 14 regional measures. Chorioamnionitis, necrotizing enterocolitis, white matter injury on cranial ultrasound, and increasing duration of mechanical ventilation were adversely correlated with regional microstructure. Conversely, antenatal steroids, female sex, longer duration of caffeine therapy, and greater duration of human milk use were independent favorable factors. White matter injury on cranial ultrasound was associated with a five weeks or greater delayed maturation of the corpus callosum; every additional 10 days of human milk use were associated with a three weeks or greater advanced maturation of the corpus callosum.Diffusion tensor imaging is sensitive in detecting the widespread cerebral delayed maturation and/or damage increasingly observed in extremely preterm infants. In our cohort, it also aided identification of several previously known or suspected perinatal clinical antecedents of brain injury, aberrant development, and neurodevelopmental impairments.

  1. Using a prostate exam simulator to decipher palpation techniques that facilitate the detection of abnormalities near clinical limits. (United States)

    Wang, Ninghuan; Gerling, Gregory J; Krupski, Tracey L; Childress, Reba Moyer; Martin, Marcus L


    Prostate carcinoma (and other prostate irregularities and abnormalities) is detected in part via the digital rectal examination. Training clinicians to use particular palpation techniques may be one way to improve the rates of detection. In an experiment of 34 participants with clinical backgrounds, we used a custom-built simulator to determine whether certain finger palpation techniques improved one's ability to detect abnormalities smaller in size and dispersed as multiples over a volume. The intent was to test abnormality cases of clinical relevance near the limits of size perceptibility (ie, 5-mm diameter). The simulator can present abnormalities in various configurations and record finger movement. To characterize finger movement, four palpation techniques were quantitatively defined (global finger movement, local finger movement, average intentional finger pressure, and dominant intentional finger frequency) to represent the qualitative definitions of other researchers. Participants who used more thorough patterns of global finger movement (V and L) ensured that the entire prostate was searched and detected more abnormalities. A higher magnitude of finger pressure was associated with the detection of smaller abnormalities. The local finger movement of firm pressure with varying intensities was most indicative of success and was required to identify the smallest (5-mm diameter) abnormality. When participants used firm pressure with varying intensities, their dominant intentional finger frequency was about 6 Hz. The use of certain palpation techniques does enable the detection of smaller and more numerous abnormalities, and we seek to abstract these techniques into a systematic protocol for use in the clinic.

  2. Mineral trioxide aggregate (MTA): its history, composition, and clinical applications. (United States)

    Tawil, Peter Z; Duggan, Derek J; Galicia, Johnah C


    Mineral trioxide aggregate (MTA) has been a revolutionary material in endodontics. Since its introduction in the 1990s several studies have demonstrated its use in various clinical applications. MTA has been extensively studied and is currently used for perforation repairs, apexifications, regenerative procedures, apexogenesis, pulpotomies, and pulp capping. This article will review the history, composition, research findings, and clinical applications of this versatile endodontic material.

  3. Cortical thinning and caudate abnormalities in first episode psychosis and their association with clinical outcome. (United States)

    Scanlon, Cathy; Anderson-Schmidt, Heike; Kilmartin, Liam; McInerney, Shane; Kenney, Joanne; McFarland, John; Waldron, Mairead; Ambati, Srinath; Fullard, Anna; Logan, Sam; Hallahan, Brian; Barker, Gareth J; Elliott, Mark A; McCarthy, Peter; Cannon, Dara M; McDonald, Colm


    First episode psychosis (FEP) has been associated with structural brain changes, largely identified by volumetric analyses. Advances in neuroimaging processing have made it possible to measure geometric properties that may identify subtle structural changes not appreciated by a measure of volume alone. In this study we adopt complementary methods of assessing the structural integrity of grey matter in FEP patients and assess whether these relate to patient clinical and functional outcome at 3 year follow-up. 1.5 Tesla T1-weighted Magnetic Resonance (MR) images were acquired for 46 patients experiencing their first episode of psychosis and 46 healthy controls. Cerebral cortical thickness and local gyrification index (LGI) were investigated using FreeSurfer software. Volume and shape of the hippocampus, caudate and lateral ventricles were assessed using manual tracing and spherical harmonics applied for shape description. A cluster of cortical thinning was identified in FEP compared to controls; this was located in the right superior temporal gyrus, sulcus, extended into the middle temporal gyrus (lateral temporal cortex - LTC). Bilateral caudate volumes were significantly lower in FEP relative to controls and the right caudate also displayed regions of shape deflation in the FEP group. No significant structural abnormalities were identified in cortical LGI or hippocampal or lateral ventricle volume/shape. Neither LTC nor caudate abnormalities were related to change in symptom severity or global functioning 3 years later. LTC and caudate abnormalities are present at the first episode of psychosis but do not appear to directly affect clinical or functional outcome. Copyright © 2014 Elsevier B.V. All rights reserved.

  4. Abnormal neuronal migration: radiologic-clinic study. Alteraciones en la migracion neural: estudio clinico-radiologico

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    Martinez Fernandez, M.; Menor Serrano, F.; Bordon Ferre, F.; Garcia Tena, J.; Esteban Hernandez, E.; Sanguesa Nebot, C.; Marti Bonnati, L. (Hospital Infantil La Fe, Valencia (Spain))


    We present our experience in 18 pediatric patients with abnormal neuronal migration. Seven cases of heterotopia of the gray matter, 7 agyria-pachygyria complexes, 1 case of polymicrogyria, 2 cases of schizencephaly and 1 case of hemimegalencephaly were diagnosed by means of ultrasonography, computed tomography and magnetic resonance. The clinical picture was reviewed in each case, with special attention to the occurrence of convulsions, psycho motor development and visual changes. In general, the greater the morphological change, the greater the neurological involvement in these patients. However, the two cases of schizencephaly presented mild clinical expression. Magnetic resonance increases the diagnostic yield in neuronal migration disorders. Nevertheless, either ultrasonography or, especially, computed tomography is useful as a first diagnostic approach in these malformative disorders. (Author)

  5. Peripheral muscle abnormalities in cystic fibrosis: Etiology, clinical implications and response to therapeutic interventions. (United States)

    Gruet, Mathieu; Troosters, Thierry; Verges, Samuel


    Peripheral muscle dysfunction is an important systemic consequence of cystic fibrosis (CF) with major clinical implications, such as exercise intolerance and reduced quality of life. Evidence is now accumulating that lack of physical activity is unlikely to be the sole explanation for peripheral muscle dysfunction of patients with CF. Particularly, the demonstration of CFTR expression in both murine and human skeletal muscle suggests the potential implication of intrinsic CF-related factors. By combining data from both human and animal models, this review describes CF peripheral muscle abnormalities and critically reviews the advances in understanding the impact of the underlying mechanisms. We also describe how peripheral muscles respond to intervention in this population. Methodological concerns and directions for future research are also considered. Peripheral muscle atrophy and weakness is prevalent in patients with CF and associated with reduced aerobic and anaerobic performances. Further investigations are however needed to confirm alterations in peripheral muscle endurance and fatigability. Physical inactivity is probably the major contributor of peripheral muscle abnormalities in patients with CF with mild-to-moderate phenotypes. However, the relative influence of additional factors (e.g. inflammation, metabolic abnormalities) probably increases with disease severity making specific and individualized interventions necessary in severe patients. Exercise training is the most effective intervention to address peripheral muscle dysfunction but other strategies, such as neuromuscular electrical stimulation and nutritional or hormonal supplementation may be of interest in some patients. Investigations are needed to determine whether pharmacological interventions such as CFTR modulators are effective to address this condition. To better elucidate the etiology of peripheral muscle dysfunction in CF, future studies should combine measurements at the cellular level

  6. Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. (United States)

    Ingles, Jodie; Burns, Charlotte; Bagnall, Richard D; Lam, Lien; Yeates, Laura; Sarina, Tanya; Puranik, Rajesh; Briffa, Tom; Atherton, John J; Driscoll, Tim; Semsarian, Christopher


    Yield of causative variants in hypertrophic cardiomyopathy (HCM) is increased in some probands, suggesting different clinical subgroups of disease occur. We hypothesized that a negative family history and no sarcomere mutations represent a nonfamilial subgroup of HCM. We sought to determine the prevalence, natural history, and potential clinical implications of this nonfamilial subgroup of HCM. Four hundred and thirteen unrelated probands with HCM seen in a specialized HCM center between 2002 and 2015 and genetic testing performed were included in this retrospective cohort study. There were 251 (61%) probands with no reported family history of HCM, including 166 (40% of total) probands with no sarcomere mutation, that is, nonfamilial HCM. Quantified family pedigree data revealed no difference in mean number of first-degree relatives screened between nonfamilial and sarcomere-positive groups. Adjusted predictors of nonfamilial status were older age (odds ratio, 1.04; 95% confidence interval, 1.02-1.06; P =0.0001), male sex (odds ratio, 1.96; 95% confidence interval, 1.11-3.45; P =0.02), hypertension (odds ratio, 2.80; 95% confidence interval, 1.57-5.00; P =0.0005), and nonasymmetric septal morphology (odds ratio, 3.41; 95% confidence interval, 1.64-7.08; P =0.001). They had a less severe clinical course with greater event-free survival from major cardiac events ( P =0.04) compared with sarcomere-positive HCM probands. Genotype prediction scores showed good performance in identifying genotype-positive patients (area under the curve, 0.71-0.75) and, in combination with pedigree characteristics, were further improved. Approximately 40% of HCM probands have a nonfamilial subtype, with later onset and less severe clinical course. We propose a revised clinical pathway for management, highlighting the role of genetic testing, a detailed pedigree, and refined clinical surveillance recommendations for family members. © 2017 American Heart Association, Inc.

  7. The Natural History and Clinical Presentation of Cervical Spondylotic Myelopathy


    Yarbrough, Chester K.; Murphy, Rory K. J.; Ray, Wilson Z.; Stewart, Todd J.


    Cervical spondylotic myelopathy (CSM) refers to impaired function of the spinal cord caused by degenerative changes of the cervical spine resulting in spinal cord compression. It is the most common disorder in the United States causing dysfunction of the spinal cord. A literature review of the natural history of mild cervical myelopathy is undertaken. Clinical presentation and current concepts of pathophysiology are also discussed. While many patients with mild signs of CSM will stabilize or ...

  8. Anormalidades cromossômicas em casais com história de aborto recorrente Chromosomal abnormalities in couples with history of recurrent abortion

    Directory of Open Access Journals (Sweden)

    Andrea Kiss


    Full Text Available OBJETIVO: verificar a prevalência e as características clínicas de casais com história de abortos de repetição e anormalidade cromossômica atendidos em nosso serviço. MÉTODOS: foram avaliados retrospectivamente todos os casais encaminhados de janeiro de 1975 a junho de 2008 por história de abortos de repetição. Foram incluídos no estudo somente aqueles casais, em que a análise cromossômica feita com o cariótipo por bandas GTG foi realizada com sucesso. Foram coletados dados clínicos referentes às suas idades, bem como o número de abortamentos, natimortos, crianças polimalformadas, nativivos por casal e resultado do exame de cariótipo. Para comparação da frequência das alterações cromossômicas encontradas em nosso estudo com as da literatura, bem como entre os diferentes subgrupos de nossa amostra, foi utilizado o teste exato de Fisher (pPURPOSE: to asses the prevalence and clinical characteristics of couples with history of recurrent spontaneous abortion and chromosome abnormality, attended at the present service. METHODS: all the couples referred to our service due to history of recurrent spontaneous abortion, from January 1975 to June 2008, were evaluated. Only the ones whose chromosome karyotype analysis by GTG bands has been successfully made were included in the study. Clinical data on their age, as well as on the number of abortions, stillbirth, multiple malformations, livebirth per couple, and the result of the karyotype exam were collected. Fisher's exact test (p<0.05 has been used to compare the incidence of chromosome alterations found in our study, with data in the literature. RESULTS: there were 108 couples in the sample. Their ages varied from 21 to 58 years old among the men (average of 31.4 years old, and from 19 to 43 among the women (average of 29.9 years old. In ten couples, one of the mates (9.3% presented chromosome alterations, which corresponded respectively to three cases (30% of reciprocal

  9. Prevalence of Proteinuria and Other Abnormalities in Urinalysis Performed in the Urology Clinic. (United States)

    Bezinque, Adam; Noyes, Sabrina L; Kirmiz, Samer; Parker, Jessica; Dey, Sumi; Kahnoski, Richard J; Lane, Brian R


    To compare the prevalence of proteinuria in the urology clinic with other outpatient settings. Chronic kidney disease is classified according to cause, glomerular filtration rate, and proteinuria. Proteinuria may be more prevalent in patients with known chronic kidney disease, renal disorders (benign or malignant), or after urologic surgery. A cross-sectional study of 3 populations undergoing urinalysis (UA) testing was carried out: general outpatients (n = 20,334), urology outpatients (n = 5023), and kidney cancer patients (n = 1016). Proteinuria was classified under Kidney Disease: Improving Global Outcomes guidelines: A1 (300 mg). Proteinuria was detected throughout a community-based health system in 8.6% of UA (8.2%: A2; 0.4%: A3). In comparison, 18.6% of urology office-performed UA had proteinuria (16.0%: A2, 2.5%: A3) (P urology). Kidney cancer patients were more likely to have proteinuria (17.9%: A2, 3.8%: A3). The proportion with A3 was significantly higher in urology and kidney cancer patients when compared with other outpatients (each P urology patients (P urology clinic, including hematuria (20.9%), pyuria (21.8%), and bacteriuria (3.1%). The value of UA in the urology clinic as a screening test for proteinuria and other conditions appears high, with >56% having at least 1 abnormality. The population risk of proteinuria in the urology clinic is 18.5%, which is higher than that observed in non-urology clinics. Patients with kidney cancer appear more likely to have proteinuria than the average urology patient. We recommend evaluation of urology patients with UA to identify proteinuria. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Clinical Characteristics and Natural History of Quasi-Moyamoya Disease. (United States)

    Zhao, Meng; Lin, Zhiqin; Deng, Xiaofeng; Zhang, Qian; Zhang, Dong; Zhang, Yan; Wang, Rong; Wang, Shuo; Jiang, Zhongli; Wang, Hao; Zhao, Jizong


    Quasi-moyamoya disease (quasi-MMD) is a rare cerebrovascular disease and its clinical features and natural history remain unclear. The aim of the study is to describe the clinical characteristics and the natural histories of this disease, with analysis of the risk factors for future cerebrovascular events. We identified 64 patients with quasi-MMD from 693 moyamoya vasculopathy patients referred to our hospital between 2011 and 2015. Demographic data, associated disorders, clinical manifestation, angiographic findings, natural history, and risk factors for cerebrovascular events were analyzed. Patients included in the study had a mean age of 31.5 years. A unimodal age distribution was noted. Atherosclerosis was the most frequently associated disorder. Forty-five (70.3%) patients had ischemic events as their initial clinical manifestation and 14 (21.9%) patients presented as hemorrhagic stroke. The majority of patients presented with Suzuki grades 3 and 4 (20.3% and 42.2%). The annual risk of cerebrovascular events was 19.4% per patient-year. Prior hemorrhage (HR 2.77, 95% CI 1.20-6.41) and ischemic stroke (HR 2.77, 95% CI 1.26-6.07) were 2 risk factors for future events. Several clinical characteristic differences were observed in our mainland China cohort compared with the Japanese and European cohorts. The annual risk of cerebrovascular events was relatively high in quasi-MMD patients. Patients with prior hemorrhage and ischemic stroke were inclined to have future cerebrovascular events. Close follow-up is needed for these patients. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  11. Phenobarbitone-induced haematological abnormalities in idiopathic epileptic dogs: prevalence, risk factors, clinical presentation and outcome. (United States)

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


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

  12. Clinical neuropsychology in Israel: history, training, practice and future challenges. (United States)

    Vakil, Eli; Hoofien, Dan


    This is an invited paper for a special issue on international perspectives on training and practice in clinical neuropsychology. We provide a review of the status of clinical neuropsychology in Israel, including the history of neuropsychological, educational, and accreditation requirements to become a clinical neuropsychologist and to practice clinical neuropsychology. The information is based primarily on the personal knowledge of the authors who have been practicing clinical neuropsychology for over three decades and hold various administrative and academic positions in this field. Second, we conducted three ad hoc surveys among clinical and rehabilitation psychologists; heads of academic programs for rehabilitation and neuropsychology; and heads of accredited service providers. Third, we present a literature review of publications by clinical neuropsychologists in Israel. Most of the clinical neuropsychologists are graduates of either rehabilitation or clinical training programs. The vast majority of neuropsychologists are affiliated with rehabilitation psychology. The training programs (2-3 years of graduate school) provide solid therapeutic and diagnostic skills to the students. Seventy-five percent of the participants in this survey are employed at least part-time by public or state-funded institutions. Israeli neuropsychologists are heavily involved in case management, including vocational counseling, and rehabilitation psychotherapy. Conclusions and future goals: Although clinical neuropsychologists in Israel are well educated and valued by all health professionals, there are still several challenges that must be addressed in order to further advance the field and the profession. These included the need for Hebrew-language standardized and normalized neuropsychological tests and the application of evidence-based interventions in neuropsychological rehabilitation.

  13. Evaluation of clinical characteristics of Kawasaki syndrome and risk factors for coronary artery abnormalities among children in Denmark. (United States)

    Patel, Amy; Holman, Robert C; Callinan, Laura S; Sreenivasan, Nandini; Schonberger, Lawrence B; Fischer, Thea K; Belay, Ermias D


    To examine clinical characteristics, treatment and outcome of Kawasaki syndrome patients in Denmark. A retrospective chart review of hospitalization records for children Kawasaki syndrome discharge diagnosis identified through the Danish National Patient Registry during 1994 through June 2008 was conducted. A total of 284 cases Kawasaki syndrome (n = 279) and atypical Kawasaki syndrome (n = 5); 70.4% were Kawasaki syndrome patients were diagnosed with coronary artery abnormalities. Not receiving intravenous immunoglobulin treatment before the 10th day of illness, young age and male sex were significantly associated with the development of coronary artery abnormalities. In Denmark, more than one in 10 children with Kawasaki syndrome develop coronary artery abnormalities. Physicians should increase their index of suspicion for early diagnosis and treatment of Kawasaki syndrome among patients susceptible to increased risk of coronary artery abnormalities, particularly in infants who may have a more atypical presentation of the illness. ©2012 The Author(s)/Acta Paediatrica ©2013 Foundation Acta Paediatrica.

  14. The Drivers of Discretionary Utilization: Clinical History Versus Physician Supply. (United States)

    Ruhnke, Gregory W; Manning, Willard G; Rubin, David T; Meltzer, David O


    Because the effect of physician supply on utilization remains controversial, literature based on non-Medicare populations is sparse, and a physician supply expansion is under way, the potential for physician-induced demand across diverse populations is important to understand. A substantial proportion of gastrointestinal endoscopies may be inappropriate. The authors analyzed the impact of physician supply, practice patterns, and clinical history on esophagogastroduodenoscopy (EGD, defined as discretionary) among patients hospitalized with lower gastrointestinal bleeding (LGIB). Among 34,344 patients hospitalized for LGIB from 2004 to 2009, 43.1% and 21.3% had a colonoscopy or EGD, respectively, during the index hospitalization or within 6 months after. Linking to the Dartmouth Atlas via patients' hospital referral region, gastroenterologist density and hospital care intensity (HCI) index were ascertained. Adjusting for age, gender, comorbidities, and race/education indicators, the association of gastroenterologist density, HCI index, and history of upper gastrointestinal disease with EGD was estimated using logistic regression. EGD was not associated with gastroenterologist density or HCI index, but was associated with a history of upper gastrointestinal disease (OR 2.30; 95% CI 2.17-2.43), peptic ulcer disease (OR 4.82; 95% CI 4.26-5.45), and liver disease (OR 1.34; 95% CI 1.18-1.54). Among patients hospitalized with LGIB, large variation in gastroenterologist density did not predict EGD, but relevant clinical history did, with association strengths commensurate with risk for upper gastrointestinal bleeding. In the scenario studied, no evidence was found that specialty physician supply increases will result in more discretionary care within commercially insured populations.

  15. Abnormal Neural Responses to Emotional Stimuli but Not Go/NoGo and Stroop Tasks in Adults with a History of Childhood Nocturnal Enuresis.

    Directory of Open Access Journals (Sweden)

    Mengxing Wang

    Full Text Available Nocturnal enuresis (NE is a common disorder in school-aged children. Previous studies have reported that children with NE exhibit structural, functional and neurochemical abnormalities in the brain, suggesting that children with NE may have cognitive problems. Additionally, children with NE have been shown to process emotions differently from control children. In fact, most cases of NE resolve with age. However, adults who had experienced NE during childhood may still have potential cognitive or emotion problems, and this possibility has not been thoroughly investigated.In this work, we used functional magnetic resonance imaging (fMRI to evaluate brain functional changes in adults with a history of NE. Two groups, consisting of 21 adults with NE and 21 healthy controls, were scanned using fMRI. We did not observe a significant abnormality in activation during the Go/NoGo and Stroop tasks in adults with a history of NE compared with the control group. However, compared to healthy subjects, young adults with a history of NE mainly showed increased activation in the bilateral temporoparietal junctions, bilateral dorsolateral prefrontal cortex, and bilateral anterior cingulate cortex while looking at negative vs. neutral pictures.Our results demonstrate that adults with a history of childhood NE have no obvious deficit in response inhibition or cognitive control but showed abnormal neural responses to emotional stimuli.

  16. [Long QT syndrome. History, genetics, clinical symptoms, causes and therapy]. (United States)

    Krönauer, T; Friederich, P


    The long QT syndrome is caused by a change in cardiac repolarization due to functional ion channel defects. A differentiation is made between a congenital (cLQTS) and an acquired (aLQTS) form of the disease. The disease results in the name-giving prolongation of the QT interval in the electrocardiogram and represents a predisposition for cardiac arrhythmia and sudden cardiac death. This article summarizes the current knowledge on the history, pathophysiology, clinical symptoms and therapy of cLQTS and aLQTS. This knowledge of pathophysiological features of the symptoms allows the underlying anesthesiological approach for individualized perioperative concepts for patients suffering from LQTS to be derived.

  17. Clinical disease and laboratory abnormalities in free-ranging desert tortoises in California (1990-1995) (United States)

    Christopher, Mary M.; Berry, Kristin H.; Henen, Brian T.; Nagy, Kenneth A.


    Desert tortoise (Gopherus agassizii) populations have experienced precipitous declines resulting from the cumulative impact of habitat loss and human and disease-related mortality. Diagnosis of disease in live, free-ranging tortoises is facilitated by evaluation of clinical signs and laboratory test results but may be complicated by seasonal and environmental effects. The goals of this study were: 1) to describe and monitor clinical and laboratory signs of disease in adult, free-ranging desert tortoises at three sites in the Mojave Desert of California (USA) between October 1990 and October 1995; 2) to evaluate associations between clinical signs and hematologic, biochemical, serologic, and microbiologic test results; 3) to characterize disease patterns by site, season, and sex; and 4) to assess the utility of diagnostic tests in predicting morbidity and mortality. Venous blood samples were obtained four times per year from tortoises of both sexes at the Desert Tortoise Research Natural Area (DTNA), Goffs/Fenner Valley, and Ivanpah Valley. Tortoises were given a physical examination, and clinical abnormalities were graded by type and severity. Of 108 tortoises, 68.5% had clinical signs of upper respiratory tract disease consistent with mycoplasmosis at least once during the study period. In addition, 48.1% developed moderate to severe shell lesions consistent with cutaneous dyskeratosis. Ulcerated or plaque-like oral lesions were noted on single occasions in 23% of tortoises at Goffs and 6% of tortoises at Ivanpah. Tortoises with oral lesions were significantly more likely than tortoises without lesions to have positive nasal cultures for Mycoplasma agassizii(P=0.001) and to be dehydrated (P=0.0007). Nine tortoises had marked azotemia (blood urea nitrogen [BUN] >100 mg/dl) or persistent azotemia (BUN 63–76 mg/dl); four of these died, three of which had necropsy confirmation of urinary tract disease. Laboratory tests had low sensitivity but high specificity in

  18. A history of the American Society for Clinical Investigation (United States)

    Howell, Joel D.


    One hundred years ago, in 1909, the American Society for Clinical Investigation (ASCI) held its first annual meeting. The founding members based this new society on a revolutionary approach to research that emphasized newer physiological methods. In 1924 the ASCI started a new journal, the Journal of Clinical Investigation. The ASCI has also held an annual meeting almost every year. The society has long debated who could be a member, with discussions about whether members must be physicians, what sorts of research they could do, and the role of women within the society. The ASCI has also grappled with what else the society should do, especially whether it ought to take a stand on policy issues. ASCI history has reflected changing social, political, and economic contexts, including several wars, concerns about the ethics of biomedical research, massive increases in federal research funding, and an increasingly large and specialized medical environment. PMID:19348041

  19. Influence of history of brain disease or brain trauma on psychopathological abnormality in young male in Korea : analysis of multiphasic personal inventory test. (United States)

    Paik, Ho Kyu; Oh, Chang-Hyun; Choi, Kang; Kim, Chul-Eung; Yoon, Seung Hwan; Chung, Joonho


    The purpose of this study is to confirm whether brain disease or brain trauma actually affect psychopathology in young male group in Korea. The authors manually reviewed the result of Korean military multiphasic personal inventory (KMPI) in the examination of conscription in Korea from January 2008 to May 2010. There were total 237 young males in this review. Normal volunteers group (n=150) was composed of those who do not have history of brain disease or brain trauma. Brain disease group (n=33) was consisted of those with history of brain disease. Brain trauma group (n=54) was consisted of those with history of brain trauma. The results of KMPI in each group were compared. Abnormal results of KMPI were found in both brain disease and trauma groups. In the brain disease group, higher tendencies of faking bad response, anxiety, depression, somatization, personality disorder, schizophrenic and paranoid psychopathy was observed and compared to the normal volunteers group. In the brain trauma group, higher tendencies of faking-good, depression, somatization and personality disorder was observed and compared to the normal volunteers group. Young male with history of brain disease or brain trauma may have higher tendencies to have abnormal results of multiphasic personal inventory test compared to young male without history of brain disease or brain trauma, suggesting that damaged brain may cause psychopathology in young male group in Korea.

  20. Clinical significance of brain SPECT abnormalities of thalami and cerebellum in cerebral palsy with normal MRI

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    Park, C. H.; Lim, S. Y.; Lee, I. Y.; Kim, O. H.; Bai, M. S.; Kim, S. J.; Yoon, S. N.; Cho, C. W. [College of Medicine, Ajou Univ., Suwon (Korea, Republic of)


    The cerebral palsy(CP) encephalopathies are often of uncertain etiology and various functional image findings comparing with anatomical image findings have been reported. However, only a few have mentioned its clinical implications. The purpose of our report is to compare clinical severity and functional SPECT abnormalities of thalami and cerebellum in CP patients with normal MRI. Thirty six CP patients with bilateral spastic palsy who had normal MRI and brain SPECT were studied from July 1996 to September 1997. The patients' age at the time of SPECT was 22.84{+-}17.69 months. The patients were divided into two groups according to motor quotient(MQ); moderate defect (>50MQ : n=27 MQ=22.78{+-}10.36), mild defect (<50MQ : n=9, MQ=66.11{+-}13.87). The degree of rCBF decrease between the two groups was evaluated by {chi}{sup 2} test. Brain SPECT was performed following IV administration of 0.05-0.1 mCi/kg (minimum 2.0 mCi) of Tc-99m ECD and chloral hydrate sedation (50-80 mg/kg p.o) using a triple head system (MS 3, Siemens). Interpretation of brain SPECT was visual analysis: severe decrease is defined when the defect is moderate to marked and mild decrease in rCBF as mild. Seven of 36 (19.4%) showed unilateral or bilateral moderate decrease in rCBF in thalami, 20(55.6%) showed mild decrease, and 9(25.0%) showed no decreased rCBF. All 7 who had moderate thalamic defect reveled moderate motor defect clinically. Ten of 36(27.9%) revealed unilateral or bilateral moderate rCBF defect, 23 (63.9%) depicted mild defect, and 3(8.3%) showed no defect. Sixteen with moderate thalamic rCBF defect showed moderate motor defect in 15 patients. There was statistically significant (p=0.02605) relationship between rCBF defect and motor defect in our CP patients. In conclusion, brain SPECT appears sensitive, non-invasive tool in the evaluation as well as in the prognostication of bilateral spastic cerebral palsy patients and deserves further study using larger number of patients.

  1. [The clinical features and natural history of post-transfusion hepatitis C]. (United States)

    Chong, Yu-tian; Lin, Chao-shuang; Zhao, Zhi-xin; Lin, Guo-li; Li, Jian-guo; Gao, Zhi-liang


    To study the clinical features and natural history of post-transfusion hepatitis C (PTHC). Ninety-nine post-transfusion hepatitis C patients were analyzed using retrospective and prospective study and follow-up. (1) Ninety-nine post-transfusion HCV patients were infected during 1989-1994, mostly between 1990-1992. (2) Ninety patients were diagnosed as chronic hepatitis C, and 9 as hepatic cirrhosis (period of compensation). (3) The intervals between their transfusions and their initial diagnoses of PTHC were 7.4+/-6.6 years in all 99 patients, and the intervals in 9 cirrhosis patients were 12.7+/-5.8 years. (4) Among 63 male patients, 59 cases were chronic hepatitis C and 4 were cirrhosis while among 36 female patients, 31 were chronic hepatitis C and 5 were cirrhosis. There was no significant difference of the ratio for hepatitis C and cirrhosis between the male and female patients (P>0.05). (5) Repeat abnormal liver function occurred accompanied with a fluctuation of ALT elevation in those patients with cirrhosis. (6) No patient developed hepatic carcinoma during the study period. (1) The possibility of HCV infection by transfusion has declined greatly since 1995 in Guangzhou. (2) Nine of the 99 (9.1%) chronic HCV-infected patients developed a compensated cirrhosis after 12.7+/-5.8 years. (3) For those PTHC patients with repeat abnormal liver functions, interferon combined with ribavirin is recommended to prevent the development of cirrhosis.

  2. Clinical, scintigraphic, and angiographic predictors of oxygen pulse abnormality in patients undergoing cardiopulmonary exercise testing. (United States)

    De Lorenzo, Andrea; da Silva, Carlito Lessa; Souza, Fernando Cesar Castro; Serra, Salvador; Marino, Pablo; Sl Lima, Ronaldo


    The oxygen (O2 ) pulse curve obtained at cardiopulmonary exercise testing provides information on cardiorespiratory fitness and the presence of cardiovascular disease. O2 pulse abnormalities have been attributed to myocardial ischemia, among other conditions, but the predictors of abnormal O2 pulse curves are not completely known. Perfusion abnormalities detected by myocardial perfusion scintigraphy (MPS) may be associated with abnormal O2 pulse curves. Forty patients with normal left ventricular function underwent cardiopulmonary exercise testing with radiotracer injection at peak exercise, followed by MPS. The O2 pulse curves were classified as (A) normal; (B) probably normal (normal slope with lower peak value); (C) probably abnormal (flat, with low peak value); or (D) definitely abnormal (descending slope), and analyzed as A/B vs C/D. Coronary artery disease (CAD) was defined as >50% stenosis. MPS perfusion scores were calculated (summed rest score [SRS], indicating myocardial fibrosis; summed difference score, indicating ischemia). Comparing patients with A/B vs C/D curves, the latter were more frequently female and had higher SRS. The prevalence of ischemic MPS, of any CAD, or multivessel CAD was not significantly different among patients with A/B or C/D curve patterns. On logistic regression, female sex, body mass index, and the SRS were significantly associated with C/D curves. Female sex, increasing body mass index, and myocardial fibrosis were significant predictors of abnormal O2 pulse curves. Myocardial ischemia and the presence and extent of CAD were not associated with the abnormal patterns of the O2 pulse curve. © 2017 Wiley Periodicals, Inc.

  3. Cerebral cavernous malformations: natural history and clinical management. (United States)

    Gross, Bradley A; Du, Rose


    Cavernous malformations (CMs) are angiographically-occult clusters of dilated sinusoidal channels that may present clinically with seizures, focal neurological deficits and/or hemorrhage. Across natural history studies, the annual hemorrhage rate ranged from 1.6-3.1% per patient-year, decreasing to 0.08-0.2% per patient-year for incidental CMs and to 0.3-0.6% for the collective group of unruptured CMs. Prior hemorrhage is a significant risk factor for subsequent CM hemorrhage. Hemorrhage clustering, particularly within the first 2 years, is an established phenomenon that may confound results of natural history studies evaluating the rate of rehemorrhage. Indeed, rehemorrhage rates for hemorrhagic CMs range from 4.5-22.9% in the literature. Surgical resection is the gold standard treatment for surgically-accessible, symptomatic CMs. Incidental CMs or minimally symptomatic, surgically inaccessible eloquent lesions may be considered for observation. Stereotactic radiosurgery is a controversial treatment approach of consideration only for cases of highly aggressive, surgically inaccessible CMs.

  4. Clinical impact of ' in-treatment' wall motion abnormalities in hypertensive patients with left ventricular hypertrophy: the LIFE study

    DEFF Research Database (Denmark)

    Cicala, S.; Simone, G. de; Wachtell, K.


    In hypertensive patients with LVH and no history of cardiovascular disease, ' in- treatment' left ventricular wall motion abnormalities are associated with increased likelihood of subsequent cardiovascular events independent of age, gender, blood pressure lowering, treatment modality, and in- treatment left......, however, never been investigated. We examined whether 'in- treatment' wall motion abnormalities predicted outcome in the Losartan Intervention For Endpoint ( LIFE) reduction in hypertension echocardiographic substudy. Methods We studied 749 patients without coronary artery disease, myocardial infarction...... to analyze the primary composite endpoint of cardiovascular death, MI, or stroke and, separately, for fatal and nonfatal MI and hospitalized heart failure. Results During a mean follow-up of 4.8 years, an event was recorded in 67 ( 9%) patients. In Cox models after adjusting for age, gender, treatment, blood...

  5. Clinical features and natural history of ulcerative colitis in Korea. (United States)

    Park, Sang Hyoung; Kim, Young Min; Yang, Suk-Kyun; Kim, Sai-Hui; Byeon, Jeong-Sik; Myung, Seung-Jae; Cho, Yun Kyung; Yu, Chang-Sik; Choi, Kwi-Sook; Chung, Jun-Won; Kim, Benjamin; Choi, Kee Don; Kim, Jin-Ho


    The clinical characteristics of ulcerative colitis (UC) in Asian populations have not been well characterized. We therefore investigated the clinical features and natural history of UC in Korea. We retrospectively analyzed 304 Korean patients with UC first diagnosed at the Asan Medical Center between June 1989 and August 2005. The male-to-female ratio of the patients was 0.94:1, and their median age at diagnosis was 40.0 years (range, 12-72 years). At diagnosis, proctitis was noted in 134 patients (44.1%), left-sided colitis in 69 patients (22.7%), and extensive colitis in 101 patients (33.2%). Disease activity at diagnosis was mild in 149 patients (49.0%), moderate in 125 patients (41.1%), and severe in 26 patients (8.6%). In addition, 4 asymptomatic patients (1.3%) were detected as a result of a screening colonoscopy. Clinical remission after the first attack was documented in 97.4% of patients. The cumulative relapse rate after 1, 5, and 10 years was 30.2%, 72.0%, and 88.4%, respectively. The cumulative risk of proximal extension in patients with proctitis or left-sided colitis was 33.0% after 5 years and 44.5% after 10 years. The cumulative probability of colectomy was 2.0% after 1 year, 2.8% after 3 years, and 3.3% after 5 to 15 years. The cumulative survival rate after 1, 5, and 10 years was 100%, 99.4%, and 97.4%, respectively. The clinical features of Korean UC patients at diagnosis are similar to those of Westerners. However, UC in Koreans may have a milder course than in Westerners, as indicated by the lower rate of colectomy among Koreans.

  6. Cytogenetic Abnormalities with Interphase FISH Method and Clinical Manifestation in Chronic Lymphocytic Leukemia Patients in North-East of Iran. (United States)

    Rahimi, Hossein; Sadeghian, Mohammad Hadi; Keramati, Mohammad Reza; Jafarian, Amir Hossein; Shakeri, Sepideh; Shams, Seyyede Fatemeh; Motamedi, Neda; Sheikhi, Maryam; Ayatollahi, Hossein


    Background: Chronic lymphocytic leukemia (CLL) is one of the most prevalent adult leukemias. This malignancy is known by lymphocytosis for a duration of more than 3 months. In fact, it is a heterogeneous clinical disease with changeable progression. Chromosomal aberrations are significant parameters to predict result and survival rate and find treatment strategies for each patient. Cytogenetic methods are known as sensitive and relatively new procedures to detect abnormalities in genome. Materials and Methods: In order to identify CLL-related chromosomal abnormalities, 48 CLL patients included 38 Men and 10 Women with mean age of 58.25±36 were enrolled in this case series study.The survey was done at Cancer Molecular Pathology Research Center, Mashhad University of Medical Sciences. Interphase fluorescent in situ hybridization (I-FISH) was done on unstimulated peripheral blood or bone marrow samples, which were cultured in whole medium culture; it was used to detect chromosomal abnormalities such as 11q- , 13q14-, 17p- , 6q- and trisomy 12 in CLL patients. Results: Analysis demonstrated that 45.5% of CLL cases had chromosomal abnormalities; 13.63% haddel 17p, 40.90% had del 13q14 and 9.09% had del 11q. Statistical analysis of data revealed a significant relevancy between age variable and splenomegaly occurrence (P value<0.05). The younger the patients were, the less the splenomegaly occurrence. Conclusion: Laboratory findings were correlated with clinical data.

  7. Effects of aspirin on adverse pregnancy outcome in patients with abnormal aneuploidy screening biochemistry tests: A randomized clinical trial

    Directory of Open Access Journals (Sweden)

    Fatemeh Mirzaei


    Full Text Available Subject: The aim of this research is to study the effects of low dose aspirin on preventing any adverse pregnancy outcome in women with aneuploidy abnormal screening tests in second quarter and to compare the effects of aspirin on normal and abnormal Doppler.Method: This clinical trial study was performed on pregnant women with abnormal aneuploidy screening tests and normal Karyotype at the gestational age 15-18 week. It consists of 83 persons in aspirin receiving group and 84 persons in control group. Doppler ultrasound was simultaneously done on them to survey the Doppler results. Any adverse pregnancy outcome (APO was compared between two groups.Results: The frequency of APO was 32.8% in aspirin receiving group and 41.7% in control group (p=o.o14, RR=0.438. The frequency of preterm delivery before 37th week in the group receiving aspirin with normal Doppler was 8.07% and in the control group was 32.7% (P=0.025. The frequency of NICU reception with normal Doppler was 5.8% in aspirin group and 19.7% in control group (p=0.015. APO frequency in the group with many abnormal factors was 11.5% in the group receiving aspirin and 53.8% in control group (p=0.015. APO frequency in abnormal Doppler group was 46.7% in the group receiving aspirin and 50% in control group (p=0.849, RR=0.112.Conclusion: Low dose of aspirin reduces APO. It reduces preterm delivery and reference of pregnant women to NICU with abnormal aneuploidy screening tests.

  8. Myelin Abnormalities in Schizophrenia: Insights from Proteomic Investigations of Post-Mortem Schizophrenia and Pre-Clinical Animal Models


    Farrelly, Lorna


    Accumulating evidence from epidemiologic and clinical findings report that both exposure to prenatal inflammation and prenatal iron deficiency significantly increase the risk of developing Schizophrenia in the offspring. Abnormalities in myelin are the most robust neuropathological findings in post-mortem human Schizophrenia, however the exact mechanisms at the protein and pathway levels owing to the myelin deficits are largely unknown. Animal models offer a fruitful approach to study the ...

  9. High prevalence of abnormal liver enzymes in South African patients ...

    African Journals Online (AJOL)

    Objective: To determine the prevalence of liver function test abnormalities in South African black and Indian adult patients with type 2 diabetes mellitus attending a tertiary diabetes clinic. iabetes clinic. Recorded data included the past medical and drug history, history of alcohol abuse, anthropometry, lipid profile and liver ...

  10. Zika virus: History, epidemiology, transmission, and clinical presentation. (United States)

    Song, Byung-Hak; Yun, Sang-Im; Woolley, Michael; Lee, Young-Min


    Zika virus (ZIKV), a mosquito-borne positive-stranded RNA virus of the family Flaviviridae (genus Flavivirus), is now causing an unprecedented large-scale outbreak in the Americas. Historically, ZIKV spread eastward from equatorial Africa and Asia to the Pacific Islands during the late 2000s to early 2010s, invaded the Caribbean and Central and South America in 2015, and reached North America in 2016. Although ZIKV infection generally causes no symptoms or only a mild self-limiting illness, it has recently been linked to a rising number of severe neurological diseases, including microcephaly and Guillain-Barré syndrome. Because of the continuous geographic expansion of both the virus and its mosquito vectors, ZIKV poses a serious threat to public health around the globe. However, there are no vaccines or antiviral therapies available against this pathogen. This review summarizes a fast-growing body of literature on the history, epidemiology, transmission, and clinical presentation of ZIKV and highlights the urgent need for the development of efficient control strategies for this emerging pathogen. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  11. [Natural history and clinical manifestations of chronic hepatitis B virus]. (United States)

    Carneiro de Moura, Miguel; Marinho, Rui


    Hepatitis B virus (HBV) infection is a serious public health problem worldwide. In the last few decades, major advances have been achieved that have contributed to greater understanding of the natural history and clinical manifestations of this infection. The fluctuation between viral replication and the host's immune response has implications in the pathogenesis and progression of the hepatic lesion. In immunocompetent adults, most HBV infections resolve spontaneously in contrast with progression to chronic infection in most infants. Patients with chronic hepatitis due to HBV or chronic hepatitis B can present at four phases: 1) the immune tolerance phase, 2) HBeAg-positive chronic hepatitis B, 3) inactive HBsAg carrier state, and 4) HBeAg-negative chronic hepatitis. HBeAg-positive or -negative chronic hepatitis can progress to cirrhosis, liver failure and hepatocellular carcinoma. Progression to these complications is more frequent in HBeAg-negative forms, associated with mutations that affect the pre-core region and maintain active viral replication. Risk factors are HBV-DNA positive serum levels, an increase in serum transaminase levels and some genotypes. These factors highlight the need to evaluate and monitor all HBV carriers to identify those who could benefit from early antiviral treatment, thus avoiding progression to more advanced forms of liver disease. These measures could improve prevention and treatment of hepatitis B.

  12. Associations among ADHD, Abnormal Eating and Overweight in a non-clinical sample of Asian children


    Tong, Lian; Shi, Huijing; Li, Xiaoru


    Attention-deficit/hyperactivity disorder (ADHD) has been found to be comorbid with obesity in adults, but the association in children is uncertain. Because the underlying mechanism of comorbidity in children has not been researched sufficiently, this study aims to explore the associations among ADHD, abnormal eating, and body mass index (BMI), as well as the mediating effect of depression in children. We conducted a cross-sectional study of 785 primary students in China. The parent-report ver...

  13. Papovavirus Induced Feather Abnormalities and Skin Lesions in the Budgerigar: Clinical and Pathological Findings


    Bernier, G; Morin, M.; Marsolais, G


    Feather abnormalities and skin lesions caused by a papovavirus infection in budgerigars are described. Diseased one to 15 day old birds displayed a lack of nestling down feathers and filoplumes on the head and neck. Survivors older than 15 days exhibited retarded growth and temporary absence of feathers variable from bird to bird. Several birds between 15 and 25 days of age had flight feathers with total absence or marked sparseness of the vanes. After 25 days, feathers began to grow, althoug...

  14. Initial Clinical Findings as a Predictor of Abnormal Scan on Minor Head Injury Patients at Sanglah General Hospital, Bali-Indonesia

    Directory of Open Access Journals (Sweden)

    Ade Chandra


    Full Text Available Objective: Minor Head Injury (MHI patients should not cause severe sequelae. In fact, many studies had reported that some MHI patients had abnormal scan, clinical deterioration, and many of them have had neurosurgical intervention. This study analyzed correlations between clinical signs with abnormal scan, clinical deterioration and surgery intervention on minor head injury patients.Methods: A series of 364 MHI patients were prospectively enrolled in this study. In all cases clinical data were collected and a CT Scan was obtained. The relationship between clinical findings (loss of conciousness, amnesia, seizure, vomiting, headache, cepalhameatome, skull fracture, age more than 60 years,were identified as independent risk factors in correlations to abnormal scan, clinical deterioration and surgery intervention using bivariate and logistic regression multivariate analytics with 95 % CI.Results: the incidence of abnormal scan was 13.8% (48 patients, 3.3% (12 patients with clinical deterioration, and incidence of surgery intervention was 3.8% (14 patiens. Lost of conciousness, amnesia, cepalhematoma, skull fracture, and age more than 60 years old are independent variabels had statistically significant with abnormal scan. Amnesia, cepalhematome, skull fracture are independent variables which had statistic significantly with clinical deterioration and surgical intervention.Conclusions: Clinical variables which had statistic significantly can be used as predictors of abnormal scan, clinical deterioration, and surgical intervention. Avoiding systematic CT Scan indication implies a rate of misdiagnosis, but liberal scan can be increasing the cost of patients

  15. The pattern of abnormalities on sperm analysis: A study of 1186 infertile male in Yasmin IVF clinic Jakarta (United States)

    Aulia, S. N.; Lestari, S. W.; Pratama, G.; Harzief, A. K.; Sumapraja, K.; Hestiantoro, A.; Wiweko, B.


    A declined in semen quality resulted an increase of male infertility has been reported. The pattern of abnormalities differs from one country to another. Conflicting results from different studies may be influenced by many factor. The aims are to evaluate the pattern of semen analysis of male partners of infertile couples and identify the current status of the contribution of male factor towards the infertility in our environment. The study is a descriptive analysis of the semen analysis of male partners in infertile couples, who were present at Yasmin IVF Clinic, infertility clinic of a Tertiary Care University Teaching Hospital between 1st January 2012 and 31st December 2015. A total of 1186 consenting male partners of infertile couple were recruited into the study. According to 2010 WHO normal reference values for semen parameters, 795 (67%) of patients were normozoospermia which had normal semen parameters and 391 (33%) patients had abnormal semen parameters. Oligozospermia was evident in 155 (39.5%) patients, being the most common disorder observed. It is followed by azoospermia (24.4%), oligoasthenozospermia (17.8%), asthenozospermia (5.9%), oligoasthenotera-tozospermia (5,7%), teratozospermia (2.6%), asthenoteratozospermia (2.8%), cryptozoospermia (0.8%), necrozospermia (0.3%), and oligoteratozospermia (0.3%). Abnormal semen quality remains a significant contribution to the overall infertility with oligozospermia being the most common semen quality abnormality. This condition is an indication for the need to focus on the prevention and management of male infertility. In addition, further studies are needed to address possible etiologies and treatment in order to improve fertility rates.

  16. Temporal pole abnormalities in temporal lobe epilepsy with hippocampal sclerosis: Clinical significance and seizure outcome after surgery. (United States)

    Di Gennaro, Giancarlo; D'Aniello, Alfredo; De Risi, Marco; Grillea, Giovanni; Quarato, Pier Paolo; Mascia, Addolorata; Grammaldo, Liliana G; Casciato, Sara; Morace, Roberta; Esposito, Vincenzo; Picardi, Angelo


    To assess the clinical significance of temporal pole abnormalities (temporopolar blurring, TB, and temporopolar atrophy, TA) in patients with temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS) with a long post-surgical follow-up. We studied 60 consecutive patients with TLE-HS and 1.5 preoperative MRI scans who underwent surgery and were followed up for at least 5 years (mean follow-up 7.3 years). Based on findings of pre-surgical MRI, patients were classified according to the presence of TB or TA. Groups were compared on demographic, clinical, neuropsychological data, and seizure outcome. TB was found in 37 (62%) patients, while TA was found in 35 (58%) patients, always ipsilateral to HS, with a high degree of overlap (83%) between TB and TA (pepilepsy onset, side of surgery, seizure frequency, seizure outcome, and neuropsychological outcome. On the other hand, they were significantly older, had a longer duration of epilepsy, and displayed lower preoperative scores on several neuropsychological tests. Similar findings were observed for TA. Multivariate analysis corroborated the association between temporopolar abnormalities and age at onset, age at surgery (for TB only), and lower preoperative scores on some neuropsychological tests. Temporopolar abnormalities are frequent in patients with TLE-HS. Our data support the hypothesis that TB and TA are caused by seizure-related damages. These abnormalities did not influence seizure outcome, even after a long-term post-surgical follow-up. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  17. A history of drug-induced Torsades de Pointes is associated with T-wave morphological abnormalities

    DEFF Research Database (Denmark)

    Bhuiyan, Tanveer Ahmed; Graff, Claus; Kanters, Jørgen K.


    The hypothesis of the study is that Torsades de pointes (TdP) history can be better identified using T-wave morphology compared to Fridericia-corrected QT interval (QTcF) at baseline. ECGs were recorded at baseline and during sotalol challenge in 20 patients with a history of TdP (+TdP) and 16...... the groups at baseline (+TdP: MCS = 1.07 ± 0.095; -TdP: MCS = 0.74 ± 0.07, P = 0.012). Both QTcF and MCS could be used to discriminate between +TdP and -TdP after sotalol but only MCS reached statistical significance at baseline. Combining QTcF with MCS provided a significantly larger difference between...

  18. Development of a decision support tool to facilitate primary care management of patients with abnormal liver function tests without clinically apparent liver disease [HTA03/38/02]. Abnormal Liver Function Investigations Evaluation (ALFIE

    Directory of Open Access Journals (Sweden)

    Sullivan Frank M


    Full Text Available Abstract Background Liver function tests (LFTs are routinely performed in primary care, and are often the gateway to further invasive and/or expensive investigations. Little is known of the consequences in people with an initial abnormal liver function (ALF test in primary care and with no obvious liver disease. Further investigations may be dangerous for the patient and expensive for Health Services. The aims of this study are to determine the natural history of abnormalities in LFTs before overt liver disease presents in the population and identify those who require minimal further investigations with the potential for reduction in NHS costs. Methods/Design A population-based retrospective cohort study will follow up all those who have had an incident liver function test (LFT in primary care to subsequent liver disease or mortality over a period of 15 years (approx. 2.3 million tests in 99,000 people. The study is set in Primary Care in the region of Tayside, Scotland (pop approx. 429,000 between 1989 and 2003. The target population consists of patients with no recorded clinical signs or symptoms of liver disease and registered with a GP. The health technologies being assessed are LFTs, viral and auto-antibody tests, ultrasound, CT, MRI and liver biopsy. The study will utilise the Epidemiology of Liver Disease In Tayside (ELDIT database to determine the outcomes of liver disease. These are based on hospital admission data (Scottish Morbidity Record 1, dispensed medication records, death certificates, and examination of medical records from Tayside hospitals. A sample of patients (n = 150 with recent initial ALF tests or invitation to biopsy will complete questionnaires to obtain quality of life data and anxiety measures. Cost-effectiveness and cost utility Markov model analyses will be performed from health service and patient perspectives using standard NHS costs. The findings will also be used to develop a computerised clinical decision

  19. Bias in the reporting of family history: implications for clinical care. (United States)

    Ozanne, Elissa M; O'Connell, Adrienne; Bouzan, Colleen; Bosinoff, Phil; Rourke, Taryn; Dowd, Dana; Drohan, Brian; Millham, Fred; Griffin, Pat; Halpern, Elkan F; Semine, Alan; Hughes, Kevin S


    Family history of cancer is critical for identifying and managing patients at risk for cancer. However, the quality of family history data is dependent on the accuracy of patient self reporting. Therefore, the validity of family history reporting is crucial to the quality of clinical care. A retrospective review of family history data collected at a community hospital between 2005 and 2009 was performed in 43,257 women presenting for screening mammography. Reported numbers of breast, colon, prostate, lung, and ovarian cancer were compared in maternal relatives vs. paternal relatives and in first vs. second degree relatives. Significant reporting differences were found between maternal and paternal family history of cancer, in addition to degree of relative. The number of paternal family histories of cancer was significantly lower than that of maternal family histories of cancer. Similarly, the percentage of grandparents' family histories of cancer was significantly lower than the percentage of parents' family histories of cancer. This trend was found in all cancers except prostate cancer. Self-reported family history in the community setting is often influenced by both bloodline of the cancer history and the degree of relative affected. This is evident by the underreporting of paternal family histories of cancer, and also, though to a lesser extent, by degree. These discrepancies in reporting family history of cancer imply we need to take more care in collecting accurate family histories and also in the clinical management of individuals in relation to hereditary risk.

  20. The clinical impact of a positive family history of psychosis or mental ...

    African Journals Online (AJOL)

    Background: A family history of psychosis is associated with negative clinical characteristics of psychosis. Aim: We aimed to determine the relationship between a family history (in first-degree relatives) of psychosis (FHP) or of any mental illness (FHM), and the clinical features (including cannabis use) of first episode early ...

  1. Predictive value of clinical history compared with urodynamic study in 1,179 women

    Directory of Open Access Journals (Sweden)

    Jorge Milhem Haddad


    Full Text Available SUMMARY Objective: to determine the positive predictive value of clinical history in comparison with urodynamic study for the diagnosis of urinary incontinence. Methods: retrospective analysis comparing clinical history and urodynamic evaluation of 1,179 women with urinary incontinence. The urodynamic study was considered the gold standard, whereas the clinical history was the new test to be assessed. This was established after analyzing each method as the gold standard through the difference between their positive predictive values. Results: the positive predictive values of clinical history compared with urodynamic study for diagnosis of stress urinary incontinence, overactive bladder and mixed urinary incontinence were, respectively, 37% (95% CI 31-44, 40% (95% CI 33-47 and 16% (95% CI 14-19. Conclusion: we concluded that the positive predictive value of clinical history was low compared with urodynamic study for urinary incontinence diagnosis. The positive predictive value was low even among women with pure stress urinary incontinence.

  2. Neurocognitive deficits and neuroimaging abnormalities are prevalent in children with lupus: clinical and research experiences at a US pediatric institution. (United States)

    Muscal, E; Bloom, D R; Hunter, J V; Myones, B L


    Neurocognitive impairments and neuroimaging abnormalities are frequently observed in adults with systemic lupus erythematosus. There is a paucity of similar data in childhood-onset disease. We hypothesized that neurocognitive and neuroimaging abnormalities would be prevalent in children undergoing neuropsychological evaluations. We reviewed patient neurocognitive evaluations performed at a large United States pediatric institution during the period 2001 to 2008. Records were retrieved from 24 children referred to neuropsychology due to clinical indications. Data from 15 children enrolled in a prospective structure-function association study were also analyzed. Subjects were predominantly African-American and Hispanic adolescent girls of average intelligence. aPL positivity and aspirin use was prevalent. Neurocognitive impairment was designated in 70.8% of retrospective, and 46.7% of prospective cohort patients. Deficits were seen at times of wellness, without previous neuropsychiatric lupus, and early in disease courses. Scores >1.5 standard deviations below published age-matched norms were common in tests of executive functioning, visual memory and visual-spatial planning. Features of depression were seen in 33.3% of the children in the retrospective cohort (clinical referrals). Cerebral and cerebellar volume loss was observed in a majority of blinded prospective cohort research magnetic resonance images (73.3% and 67.7% respectively). White matter hyperintensities were observed in retrospective and prospective cohort magnetic resonance images (36.6% and 46.7% respectively). Larger prospective studies that elucidate structure-function associations in children with systemic lupus erythematosus are planned.

  3. Historie

    DEFF Research Database (Denmark)

    Poulsen, Jens Aage

    Historie i serien handler om læreplaner og læremidler og deres brug i skolefaget historie. Bogen indeholder nyttige redskaber til at analysere og vurdere læremidler......Historie i serien handler om læreplaner og læremidler og deres brug i skolefaget historie. Bogen indeholder nyttige redskaber til at analysere og vurdere læremidler...

  4. Magnetic resonance imaging of sacroiliitis in early seronegative spondylarthropathy. Abnormalities correlated to clinical and laboratory findings

    DEFF Research Database (Denmark)

    Puhakka, K B; Jurik, A G; Schiøttz-Christensen, Berit


    OBJECTIVE: To compare a new MRI scoring system of the sacroiliac joints (SIJs) in early spondylarthropathy (SpA) with clinical and laboratory parameters. METHODS: Forty-one patients (24 males, 17 females) with a median age of 26 yr and a median duration of inflammatory low back pain of 19 months...... were included. They all fulfilled the ESSG-criteria for SpA. The patients were examined by MRI of the SIJs using a new scoring system. Clinical examinations, biochemical tests, functional score (BASFI), and pain score (BASDAI) were also performed. RESULTS: 95% of the patients had inflammation and....../or destructive bone changes of the SIJs at MRI. No correlation was found between MRI pathology and clinical findings. MRI demonstrated significantly greater severity of both inflammation and destruction of the SIJs in HLA B27 positive patients than in the HLA B27 negative patients. CONCLUSIONS: In patients...

  5. History and current use of clinical photography in orthodontics. (United States)

    Galante, Donna L


    The history of dentistry and photography began in 1840 when the first dental school was opened, and the world's first photographic gallery was opened and operated by a dentist turned photographer. Since that time, photography and dentistry have been partners as photography has become an integral part of a patient's record and treatment plan. The specialty of orthodontics has led the way in this model of recording patient data.

  6. Disease definition, clinical manifestations, epidemiology and natural history of GERD. (United States)

    Vakil, Nimish


    Gastro-esophageal reflux disease is a global problem and affects children, adolescents and adults. The incidence of the disease appears to be increasing particularly in Asia where reflux disease has not traditionally been a major health problem in the past. Recent consensus efforts to define and classify the disease in both adults and children make it possible to obtain epidemiologic and natural history data using a universally acceptable definition and classification. Copyright © 2010 Elsevier Ltd. All rights reserved.

  7. Teaching history and systems from a clinical perspective. (United States)

    Larson, Paul C


    There is a need to make the teaching of the history and systems of psychology course more relevant for students in professional training programs. Most typical courses and textbooks are oriented around the history of the science of psychology, giving scant and generally passing attention to the development of the profession of psychology. The author draws on his experience teaching a history and systems course in PsyD programs and provides a structure for enhancing the relevancy of such courses in professional training programs. Two frameworks are used. The author develops a conceptualization of 4 archetypes as defining of the range of roles, activities, contexts, and justification of professional psychologists: (a) the shaman/priest, (b) the physician, (c) the teacher, and (d) the scientist. Stephen Pepper's (1942) world hypothesis theory, which characterizes the epistemic approaches underlying modern science and philosophy, is used to organize the development of the science of psychology. The integration of these 2 frameworks is discussed, and the circular modifications that flow from it are outlined.

  8. Chromosomal abnormalities in clinical psychiatry : a report of two older patients

    NARCIS (Netherlands)

    Verhoeven, W. M. A.; Tuerlings, J. H. A. M.; van Ravenswaay-Arts, C M A; Boermans, J. A. J.; Tuinier, S.


    Background and Objectives: In clinical psychiatry genetic anomalies are infrequently part of the differential diagnosis, especially in the elderly. Two case reports are used to illustrate the relevance of a genetic workup for diagnosis, treatment and prognosis. Methods: A female and a male patient,

  9. Clinical manifestations that predict abnormal brain computed tomography (CT in children with minor head injury

    Directory of Open Access Journals (Sweden)

    Nesrin Alharthy


    Full Text Available Background: Computed tomography (CT used in pediatric pediatrics brain injury (TBI to ascertain neurological manifestations. Nevertheless, this practice is associated with adverse effects. Reports in the literature suggest incidents of morbidity and mortality in children due to exposure to radiation. Hence, it is found imperative to search for a reliable alternative. Objectives: The aim of this study is to find a reliable clinical alternative to detect an intracranial injury without resorting to the CT. Materials and Methods: Retrospective cross-sectional study was undertaken in patients (1-14 years with blunt head injury and having a Glasgow Coma Scale (GCS of 13-15 who had CT performed on them. Using statistical analysis, the correlation between clinical examination and positive CT manifestation is analyzed for different age-groups and various mechanisms of injury. Results: No statistically significant association between parameteres such as Loss of Consciousness, ′fall′ as mechanism of injury, motor vehicle accidents (MVA, more than two discrete episodes of vomiting and the CT finding of intracranial injury could be noted. Analyzed data have led to believe that GCS of 13 at presentation is the only important clinical predictor of intracranial injury. Conclusion: Retrospective data, small sample size and limited number of factors for assessing clinical manifestation might present constraints on the predictive rule that was derived from this review. Such limitations notwithstanding, the decision to determine which patients should undergo neuroimaging is encouraged to be based on clinical judgments. Further analysis with higher sample sizes may be required to authenticate and validate findings.

  10. Hematologic and Biochemical Values of Wild Red-Tailed Amazon Parrot (Amazona brasiliensis) Nestlings With Abnormal Clinical Examination in Rasa Island, Brazil. (United States)

    Vaz, Frederico Fontanelli; Locatelli-Dittrich, Rosangela; Beltrame, Olair Carlos; Sipinski, Elenise Angelotti Bastos; Abbud, Maria Cecília; Sezerban, Rafael Meirelles


    The red-tailed Amazon parrot (Amazona brasiliensis) is an endangered psittacine species, but little information is available about abnormal clinical findings and hematologic and biochemical values of this species, which are important for monitoring the health of this population. To determine hematologic and biochemical values for wild red-tailed parrot nestlings exhibiting abnormal clinical findings, 31 nestlings from the Rasa Island (Paraná State, Southern Brazil) were physically restrained for clinical examination and blood sample collection. On physical examination, 26 birds had mild abnormalities and 5 had severe disorders. Parrots were divided into 5 groups according to the following clinical findings: presence of ectoparasites (group 1), respiratory disorders (group 2), chronic skin lesions caused by fly larvae (group 3), beak disorders (group 4), and severe clinical signs (group 5). Abnormal hematologic and biochemical findings in the nestlings were high total protein in group 3; low values for hemoglobin and mean corpuscular hemoglobin concentration in group 4; low glucose concentration, high mean absolute heterophil count, and high heterophil : lymphocyte ratio in group 5; high concentrations of total plasma protein in groups 3 and 4; and high globulin concentration in groups 3 and 5. In general, the population assessed was in good condition. These results provide a guide to the expected clinical findings associated with hematologic and biochemical concentrations in a population of free-living parrots with abnormal clinical examination findings. The data support the conservation planning and health monitoring of the endangered red-tailed Amazon parrot.

  11. Hospitalized congestive heart failure patients with preserved versus abnormal left ventricular systolic function: clinical characteristics and drug therapy. (United States)

    McDermott, M M; Feinglass, J; Sy, J; Gheorghiade, M


    To compare clinical characteristics of and pharmacologic therapy for hospitalized patients with congestive heart failure (CHF) and left ventricular systolic dysfunction or normal left ventricular systolic function. Medical records were reviewed for all patients discharged with a principal diagnosis of CHF from a university hospital and a community hospital between September 1, 1991 and August 31, 1992. Pertinent medical history items and prescribed drug therapies at discharge were recorded for each patient's first calendar year admission. Patients were categorized as having either normal left ventricular systolic function or systolic dysfunction based on the results of echocardiography and radionuclide angiography or contrast ventriculogram. Of 298 patients with CHF, 92 (31%) had normal left ventricular systolic function. Patients with normal systolic function were older, were more often women, were less likely to have a history of coronary artery disease, and were more likely to have a history of hypothyroidism than patients with systolic dysfunction. However, the prevalence of clinical characteristics overlapped considerably between the two groups. Among patients with systolic dysfunction, 79% were discharged on a therapeutic regimen of digoxin, 65% on an angiotensin-converting enzyme inhibitor, and 26% on either a beta-blocker or a calcium channel blocker. Among patients with normal systolic function, 50% were discharged on a regimen of a beta-blocker or a calcium channel blocker and 38% were discharged on digoxin. Twenty-six percent of patients with normal systolic function and without a history of atrial fibrillation were discharged on a digoxin regimen. Hospitalized CHF patients with normal left ventricular systolic function and those with diminished left ventricular systolic function share many clinical features. Since recommended drug therapy and prognosis differ, our data underscore the importance of diagnostic testing to assess left ventricular systolic

  12. Nail abnormalities in patients with vitiligo. (United States)

    Topal, Ilteris Oguz; Gungor, Sule; Kocaturk, Ozgur Emek; Duman, Hatice; Durmuscan, Mustafa


    Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as psoriasis, and in those with alopecia areata. It has been suggested that nail abnormalities should be apparent in vitiligo patients. We sought to document the frequency and clinical presentation of nail abnormalities in vitiligo patients compared to healthy volunteers. We also examined the correlations between nail abnormalities and various clinical parameters. This study included 100 vitiligo patients and 100 healthy subjects. Full medical histories were collected from the subjects, who underwent thorough general and nail examinations. All nail changes were noted. In the event of clinical suspicion of a fungal infection, additional mycological investigations were performed. Nail abnormalities were more prevalent in the patients (78%) than in the controls (55%) (p=0.001). Longitudinal ridging was the most common finding (42%), followed by (in descending order): leukonychia, an absent lunula, onycholysis, nail bed pallor, onychomycosis, splinter hemorrhage and nail plate thinning. The frequency of longitudinal ridging was significantly higher in patients than in controls (pvitiligo patients than in controls. Systematic examination of the nails in such patients is useful because nail abnormalities are frequent. However, the causes of such abnormalities require further study. Longitudinal ridging and leukonychia were the most common abnormalities observed in this study.


    NARCIS (Netherlands)


    Objective: To investigate the clinical course of hyperprolactinemia without demonstrable cause. Design: Prospective study of all patients with idiopathic hyperprolactinemia first seen between 1974 and 1985. Setting: Outpatient Department of University Hospital. Patients: Fifty-nine patients followed

  14. History and physical examination findings predictive of testicular torsion: an attempt to promote clinical diagnosis by house staff. (United States)

    Srinivasan, Arun; Cinman, Nadya; Feber, Kevin M; Gitlin, Jordan; Palmer, Lane S


    To standardize the history and physical examination of boys who present with acute scrotum and identify parameters that best predict testicular torsion. Over a 5-month period, a standardized history and physical examination form with 22 items was used for all boys presenting with scrotal pain. Management decisions for radiological evaluation and surgical intervention were based on the results. Data were statistically analyzed in correlation with the eventual diagnosis. Of the 79 boys evaluated, 8 (10.1%) had testicular torsion. On univariate analysis, age, worsening pain, nausea/vomiting, severe pain at rest, absence of ipsilateral cremaster reflex, abnormal testicular position and scrotal skin changes were statistically predictive of torsion. After multivariate analysis and adjusting for confounding effect of other co-existing variables, absence of ipsilateral cremaster reflex (P predictive factors of testicular torsion. An accurate history and physical examination of boys with acute scrotum should be primary in deciding upon further radiographic or surgical evaluation. While several forces have led to less consistent overnight resident staffing, consistent and reliable clinical evaluation of the acute scrotum using a standardized approach should reduce error, improve patient care and potentially reduce health care costs. Copyright © 2011 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  15. The History of Cystinosis: Lessons for Clinical Management

    Directory of Open Access Journals (Sweden)

    Paul Goodyer


    Full Text Available Cystinosis is a rare disorder, and, accordingly, progress on the understanding and treatment of this disease has been relatively slow. Although cystinosis was identified over 100 years ago, the history of cystinosis is marked by a few sudden leaps forward in our understanding rather than by a sustained research effort fuelled by the larger research community. Major conceptual break-throughs include (a its discovery in 1903, (b recognition of the renal Fanconi syndrome, (c realization that tissue accumulation of cystine reflects a defective channel in the lysosomal membrane, (d translation of this discovery to trials of cysteamine, (e discovery of the CTNS gene, and (f report of successful stem cell therapy in the cystinotic mouse. This paper focuses on the importance management lessons from these milestones and the potential new therapeutic strategies which may be looming in the near future.

  16. [Biomarkers for toxicity and metabolic abnormalities of the main severe poisonings. Clinical and toxicologic symptoms. Conservative determination]. (United States)

    Goullé, J-P; Lhermitte, M; Bartholi, M; Boyer, J-C; Capolaghi, B; Charlier, C; Danel, V; Desch, G; Feuillu, A; Flouvat, B; Mathieu, D; Nisse, P; Sadeg, N; Szymanowicz, A


    The members of the joint group "Toxicology and Clinical Biology" of the French Society of Clinical Biology (SFBC), the French Society of Analytical Toxicology (SFTA), and the Society of Clinical Toxicology (STC), suggest guidelines to meet the requirements of clinical biologists who are not specialized in toxicology. Based on good laboratory practice they propose a number of guidelines. Three synthetic tables have been established. They are not only toxicity biomarkers and metabolic disorders associated with the main severe intoxications, but also clinical signs that are observed during these intoxications, finally biological sampling as a precautionary measure. The table also takes into account approximately fifty xenobiotics: main clinical signs emergency, identification or quantification of the suspected product, useful biological markers, therapeutic, quantitations necessary to take into consideration patient care, and poison antidotes, are described. Recommendations regarding medical and forensic techniques are also proposed by the group. It is also necessary to collect and store biological samples when the individual patients are in charge. These samples will be analyzed or not depending on the individual case history.

  17. chronicles of medical history first reports of clinical pharmacokinetics

    African Journals Online (AJOL)

    Faculty of Basic Medical Sciences. College of Medicine. University of Ibadan FIRST REPORTS OF CLINICAL PHARMACOKINETICS IN NIGERIA. O.S. Michael. Department ... in Physic (FMCP) in June 1977. In November 1978, .... Surgery, University College Hospital, Ibadan, and a respected scholar ...

  18. Clinical characteristics of abnormal savda syndrome type in human immunodeficiency virus infection and acquired immune deficiency syndrome patients: A cross-sectional investigation in Xinjiang, China. (United States)

    Peierdun, Mi-ji-ti; Liu, Wen-xian; Renaguli, Ai-ze-zi; Nurmuhammat, Amat; Li, Xiao-chun; Gulibaier, Ka-ha-er; Ainivaer, Wu-la-mu; Halmurat, Upur


    To investigate the distribution of abnormal hilit syndromes in traditional Uighur medicine (TUM) among human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) patients, and to find out the clinical characteristics of abnormal savda syndrome type HIV/AIDS patients. Between June and July in 2012, 307 eligible HIV/AIDS patients from in-patient department and out-patient clinics of Xinjiang Uighur Autonomous Region the Sixth People's Hospital in Urumqi were investigated. TUM syndrome differentiation was performed by a senior TUM physician. Each participant completed a Sign and Symptom Check-List for Persons Living with HIV/AIDS (SSC-HIV) questionnaire. Depression was evaluated by using Hamilton Rating Scale for Depression Questionnaire. Blood specimen was collected from each participant to test the levels of blood chemicals. Of 307 HIV/AIDS patients, 189 (61.6%) were abnormal savda syndrome type, 118 (38.4%) were non-abnormal-savda syndrome type. Mean CD4 counts of abnormal savda syndrome type patients was (227.61±192.93) cells/µL, and the prevalence of anemia, thrombocytopenia, and elevated cystatin C were 49.7%, 28.6%, and 44.7%, which were significantly higher than those in the non-abnormal-savda syndrome type patients (26.3%, 16.0% and 25.0%,Psyndrome patients (Psyndrome is the dominant syndrome among HIV/AIDS patients, and they present a more sever clinical manifestation.

  19. [Colorectal liver metastases: history, sciences and clinical practices]. (United States)

    Evrard, Serge


    Colorectal liver metastasis is one of the best-known clinical models of multidisciplinary approach. Chemotherapy, targeted therapies, surgery and interventional radiology permitted to obtain up to 40 months of survival in palliative intent for liver metastases only and between 40 to 50% of overall survival in curative intent. Genetic, epigenetic, cellular and tissular processes are more and more well described but attempts to link biological knowledge to clinical practice are still faint. The cut-off between curative and palliative intents is progressively pushed away but consequently, its signification is less clear. Maybe an additional intermediary new concept should be added, the metastatic disease chronicisation? Evaluating the patient benefice is difficult and should stand on progression free survival as surrogate marker.

  20. Behavioral Abnormalities in Lagotto Romagnolo Dogs with a History of Benign Familial Juvenile Epilepsy: A Long-Term Follow-Up Study. (United States)

    Jokinen, T S; Tiira, K; Metsähonkala, L; Seppälä, E H; Hielm-Björkman, A; Lohi, H; Laitinen-Vapaavuori, O


    Lagotto Romagnolo (LR) dogs with benign juvenile epilepsy syndrome often experience spontaneous remission of seizures. The long-term outcome in these dogs currently is unknown. In humans, behavioral and psychiatric comorbidities have been reported in pediatric and adult-onset epilepsies. The objectives of this study were to investigate possible neurobehavioral comorbidities in LR with a history of benign familial juvenile epilepsy (BFJE) and to assess the occurrence of seizures after the remission of seizures in puppyhood. A total of 25 LR with a history of BFJE and 91 control dogs of the same breed. Owners of the LR dogs in the BFJE and control groups completed an online questionnaire about each dog's activity, impulsivity, and inattention. Principal component analysis (PCA) served to extract behavioral factors from the data. We then compared the scores of these factors between the 2 groups in a retrospective case-control study. We also interviewed all dog owners in the BFJE group by telephone to inquire specifically about possible seizures or other neurological problems after remission of seizures as a puppy. Lagotto Romagnolo dogs with BFJE showed significantly higher scores on the factors Inattention and Excitability/Impulsivity than did the control group (P = .003; P = .021, respectively). Only 1 of the 25 BFJE LR exhibited seizures after remission of epilepsy in puppyhood. Although the long-term seizure outcome in BFJE LR seems to be good, the dogs exhibit behavioral abnormalities resembling attention deficit hyperactivity disorder (ADHD) in humans, thus suggesting neurobehavioral comorbidities with epilepsy. Copyright © 2015 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

  1. The natural history and clinical syndromes of degenerative cervical spondylosis.

    LENUS (Irish Health Repository)

    Kelly, John C


    Cervical spondylosis is a broad term which describes the age related chronic disc degeneration, which can also affect the cervical vertebrae, the facet and other joints and their associated soft tissue supports. Evidence of spondylitic change is frequently found in many asymptomatic adults. Radiculopathy is a result of intervertebral foramina narrowing. Narrowing of the spinal canal can result in spinal cord compression, ultimately resulting in cervical spondylosis myelopathy. This review article examines the current literature in relation to the cervical spondylosis and describes the three clinical syndromes of axial neck pain, cervical radiculopathy and cervical myelopathy.

  2. The Natural History and Clinical Syndromes of Degenerative Cervical Spondylosis

    Directory of Open Access Journals (Sweden)

    John C. Kelly


    Full Text Available Cervical spondylosis is a broad term which describes the age related chronic disc degeneration, which can also affect the cervical vertebrae, the facet and other joints and their associated soft tissue supports. Evidence of spondylitic change is frequently found in many asymptomatic adults. Radiculopathy is a result of intervertebral foramina narrowing. Narrowing of the spinal canal can result in spinal cord compression, ultimately resulting in cervical spondylosis myelopathy. This review article examines the current literature in relation to the cervical spondylosis and describes the three clinical syndromes of axial neck pain, cervical radiculopathy and cervical myelopathy

  3. [A history of the clinical research in cardiology]. (United States)

    Veyrat, Colette; Bruel, Christiane


    On January 21 1968, nearly an half-century ago, a small Parisian group of cardiologists presented a directional Doppler prototype making possible the detection of forward and backward flows in the arteries. This princeps report, rapidly followed by the Directional Doppler recording of intracardiac flows, has upset the traditional approach to cardiovascular pathophysiology and launched a new examination method that will spread upon the whole word. Single CNRS researcher among this group of clinical cardiologists, Dr Colette Veyrat recalls this early period…. © 2016 médecine/sciences – Inserm.

  4. A Simplified Approach to Encephalitis and Its Mimics: Key Clinical Decision Points in the Setting of Specific Imaging Abnormalities. (United States)

    McKnight, Colin D; Kelly, Aine M; Petrou, Myria; Nidecker, Anna E; Lorincz, Matthew T; Altaee, Duaa K; Gebarski, Stephen S; Foerster, Bradley


    Infectious encephalitis is a relatively common cause of morbidity and mortality. Treatment of infectious encephalitis with antiviral medication can be highly effective when administered promptly. Clinical mimics of encephalitis arise from a broad range of pathologic processes, including toxic, metabolic, neoplastic, autoimmune, and cardiovascular etiologies. These mimics need to be rapidly differentiated from infectious encephalitis to appropriately manage the correct etiology; however, the many overlapping signs of these various entities present a challenge to accurate diagnosis. A systematic approach that considers both the clinical manifestations and the imaging findings of infectious encephalitis and its mimics can contribute to more accurate and timely diagnosis. Following an institutional review board approval, a health insurance portability and accountability act (HIPAA)-compliant search of our institutional imaging database (teaching files) was conducted to generate a list of adult and pediatric patients who presented between January 1, 1995 and October 10, 2013 for imaging to evaluate possible cases of encephalitis. Pertinent medical records, including clinical notes as well as surgical and pathology reports, were reviewed and correlated with imaging findings. Clinical and imaging findings were combined to generate useful flowcharts designed to assist in distinguishing infectious encephalitis from its mimics. Key imaging features were reviewed and were placed in the context of the provided flowcharts. Four flowcharts were presented based on the primary anatomic site of imaging abnormality: group 1: temporal lobe; group 2: cerebral cortex; group 3: deep gray matter; and group 4: white matter. An approach that combines features on clinical presentation was then detailed. Imaging examples were used to demonstrate similarities and key differences. Early recognition of infectious encephalitis is critical, but can be quite complex due to diverse pathologies and

  5. Clinical Characteristics of Type 2 Diabetes Patients according to Family History of Diabetes


    Jeong, Seung Uk; Kang, Dong Gu; Lee, Dae Ho; Lee, Kang Woo; Lim, Dong-Mee; Kim, Byung Joon; Park, Keun-Yong; Chin, Hyoun-Jung; Koh, Gwanpyo


    Background Type 2 diabetes mellitus (T2DM) has a strong genetic component, and its prevalence is notably increased in the family members of T2DM patients. However, there are few studies about the family history of T2DM. We carried out this study to assess the influences of family history on clinical characteristics in T2DM patients. Methods This is a cross-sectional study involving 651 T2DM patients. Patient history and physical examination were performed and fasting blood was taken. If any f...

  6. Differences in physical activity domains, guideline adherence, and weight history between metabolically healthy and metabolically abnormal obese adults: a cross-sectional study. (United States)

    Kanagasabai, Thirumagal; Thakkar, Niels A; Kuk, Jennifer L; Churilla, James R; Ardern, Chris I


    Despite the accepted health consequences of obesity, emerging research suggests that a significant segment of adults with obesity are metabolically healthy (MHO). To date, MHO individuals have been shown to have higher levels of physical activity (PA), but little is known about the importance of PA domains or the influence of weight history compared to their metabolically abnormal (MAO) counterpart. To evaluate the relationship between PA domains, PA guideline adherence, and weight history on MHO. Pooled cycles of the National Health and Nutritional Examination Survey (NHANES) 1999-2006 (≥20 y; BMI ≥ 30 kg/m(2); N = 2,753) and harmonized criteria for metabolic syndrome (MetS) were used. Participants were categorized as "inactive" (no reported PA), "somewhat active" (>0 to metabolic equivalent (MET) min/week), and "active" (PA guideline adherence, ≥ 500 MET min/week) according to each domain of PA (total, recreational, transportation and household). Logistic and multinomial regressions were modelled for MHO and analyses were adjusted for age, sex, education, ethnicity, income, smoking and alcohol intake. Compared to MAO, MHO participants were younger, had lower BMI, and were more likely to be classified as active according to their total and recreational PA level. Based on total PA levels, individuals who were active had a 70% greater likelihood of having the MHO phenotype (OR = 1.70, 95% CI: 1.19-2.43); however, once stratified by age (20-44 y; 45-59 y; and; ≥60 y), the association remained significant only amongst those aged 45-59 y. Although moderate and vigorous PA were inconsistently related to MHO following adjustment for covariates, losing ≥30 kg in the last 10 y and not gaining ≥10 kg since age 25 y were significant predictors of MHO phenotype for all PA domains, even if adherence to the PA guidelines were not met. Although PA is associated with MHO, the beneficial effects of PA may be moderated by longer-term changes in weight

  7. The clinical significances of the abnormal expressions of Piwil1 and Piwil2 in colonic adenoma and adenocarcinoma

    Directory of Open Access Journals (Sweden)

    Wang HL


    Full Text Available Hai-Ling Wang,1 Bei-Bei Chen,1 Xin-Guang Cao,1 Jin Wang,2 Xiu-Feng Hu,1 Xiao-Qian Mu,1 Xiao-Bing Chen1 1The Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital, Zhengzhou, People’s Republic of China; 2The First Affiliated Hospital of Zhengzhou University, Zhengzhou, People’s Republic of China Objective: The objective of the present investigation was to study the clinical significances of the abnormal expressions of Piwil1 and Piwil2 protein in colonic adenoma and adenocarcinoma.Methods: This study had applied immunohistochemical method to detect 45 cases of tissues adjacent to carcinoma (distance to cancerous tissue was above 5 cm, 41 cases of colonic adenoma and 92 cases of colon cancer tissues, and their Piwil1 and Piwil2 protein expression levels.Analysis: The correlation of both expression and its relationship with clinicopathological features of colon cancer was analyzed.Results: Positive expression rates of Piwil1 in tissues adjacent to carcinoma, colonic adenoma, and colon cancer were 11.1% (5/45, 53.7% (22/41, and 80.4% (74/92, respectively; the expression rates increased, and the comparisons between each two groups were statistically significant (P<0.05. In each group, the positive expression rates of Piwil2 were 24.4% (11/45 cases, 75.6% (31/41 cases, and 92.4% (85/92 cases; expression rates increased, and the comparisons between each two groups were statistically significant (P<0.05. Piwil1 expression and the correlation of the degree of differentiation, TNM stage, and lymph node metastasis were statistically significant (P<0.05. Piwil2 expression and the correlation of the degree of differentiation, tumor node metastasis (TNM stage, and lymph node metastasis had no statistical significance (P>0.05. In colon cancer tissue, Piwil1 and Piwil2 expressions were positively correlated (r=0.262, P<0.05.Conclusion: The results showed that the abnormal expression of Piwil1 and Piwil2 might play an important role in

  8. Accentuate the Negative: Grammatical Errors during Narrative Production as a Clinical Marker of Central Nervous System Abnormality in School-Aged Children with Fetal Alcohol Spectrum Disorders (United States)

    Thorne, John C.


    Purpose: The purpose of this study was to examine (a) whether increased grammatical error rates during a standardized narrative task are a more clinically useful marker of central nervous system abnormality in Fetal Alcohol Spectrum Disorders (FASD) than common measures of productivity or grammatical complexity and (b) whether combining the rate…

  9. International year of Chemistry 2011. A guide to the history of clinical chemistry. (United States)

    Kricka, Larry J; Savory, John


    This review was written as part of the celebration of the International Year of Chemistry 2011. In this review we provide a chronicle of the history of clinical chemistry, with a focus on North America. We outline major methodological advances and trace the development of professional societies and journals dedicated to clinical chemistry. This review also serves as a guide to reference materials for those interested in the history of clinical chemistry. The various resources available, in sound recordings, videos, moving images, image and document archives, museums, and websites dedicated to diagnostic company timelines, are surveyed. These resources provide a map of how the medical subspecialty of clinical chemistry arrived at its present state. This information will undoubtedly help visionaries to determine in which direction clinical chemistry will move in the future.

  10. Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome. (United States)

    Waelchli, R; Aylett, S E; Atherton, D; Thompson, D J; Chong, W K; Kinsler, V A


    The spectrum of central nervous system (CNS) abnormalities described in association with congenital melanocytic naevi (CMN) includes congenital, acquired, melanotic and nonmelanotic pathology. Historically, symptomatic CNS abnormalities were considered to carry a poor prognosis, although studies from large centres have suggested a much wider variation in outcome. To establish whether routine MRI of the CNS is a clinically relevant investigation in children with multiple CMN (more than one at birth), and to subclassify radiological abnormalities. Of 376 patients seen between 1991 and 2013, 289 fulfilled our criterion for a single screening CNS MRI, which since 2008 has been more than one CMN at birth, independent of size and site of the largest naevus. Cutaneous phenotyping and radiological variables were combined in a multiple regression model of long-term outcome measures (abnormal neurodevelopment, seizures, requirement for neurosurgery). Twenty-one per cent of children with multiple CMN had an abnormal MRI. Abnormal MRI was the most significant predictor of all outcome measures. Abnormalities were subclassified into group 1 'intraparenchymal melanosis alone' (n = 28) and group 2 'all other pathology' (n = 18). Group 1 was not associated with malignancy or death during the study period, even when symptomatic with seizures or developmental delay, whereas group 2 showed a much more complex picture, requiring individual assessment. For screening for congenital neurological lesions a single MRI in multiple CMN is a clinically relevant strategy. Any child with a stepwise change in neurological/developmental symptoms or signs should have an MRI with contrast of the brain and spine to look for new CNS melanoma. © 2015 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.

  11. Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study. (United States)

    Deal, Cheri; Hasselmann, Caroline; Pfäffle, Roland W; Zimmermann, Alan G; Quigley, Charmian A; Child, Christopher J; Shavrikova, Elena P; Cutler, Gordon B; Blum, Werner F


    Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). This study examined relationships between MRI findings and clinical/hormonal phenotypes in children with GHD in the observational Genetics and Neuroendocrinology of Short Stature International Study, GeNeSIS. Clinical presentation, hormonal status and first-year GH response were compared between patients with pituitary imaging abnormalities (n = 1,071), patients with mutations in genes involved in pituitary development/GH secretion (n = 120) and patients with idiopathic GHD (n = 7,039). Patients with hypothalamic-pituitary abnormalities had more severe phenotypes than patients with idiopathic GHD. Additional hormonal deficiencies were found in 35% of patients with structural abnormalities (thyroid-stimulating hormone > adrenocorticotropic hormone > luteinizing hormone/follicle-stimulating hormone > antidiuretic hormone), most frequently in patients with septo-optic dysplasia (SOD). Patients with the triad [ectopic posterior pituitary (EPP), pituitary aplasia/hypoplasia and stalk defects] had a more severe phenotype and better response to GH treatment than patients with isolated abnormalities. The sex ratio was approximately equal for patients with SOD, but there was a significantly higher proportion of males (approximately 70%) in the EPP, pituitary hypoplasia, stalk defects, and triad categories. This large, international database demonstrates the value of classification of GH-deficient patients by the presence and type of hypothalamic-pituitary imaging abnormalities. This information may assist family counseling and patient management. Copyright © 2013 S. Karger AG, Basel.

  12. Cohesive Referencing Errors During Narrative Production as Clinical Evidence of Central Nervous System Abnormality in School-Aged Children With Fetal Alcohol Spectrum Disorders. (United States)

    Thorne, John C; Coggins, Truman E


    Previous evidence suggests that cohesive referencing errors made during narratives may be a behavior that is revealing of underlying central nervous system abnormality in children with fetal alcohol spectrum disorders (FASD). The current research extends this evidence. Retrospective analysis of narrative and clinical data from 152 children (ages 6 to 14), 72 of whom had confirmed FASD, was used. Narrative analysis was conducted blind to diagnostic status, age, or gender. Group performance was compared. The associations between measures of cohesive referencing and clinically gathered indices of the degree of central nervous system abnormality were examined. Results show clear associations between elevated rates of cohesive referencing errors and central nervous system abnormality. Elevated error rates were more common in children with FASD than those without, and prevalence increased predictably across groups with more severe central nervous system abnormality. Risk is particularly elevated for those with microcephaly or a diagnosis of fetal alcohol syndrome. Cohesive referencing errors during narrative are a viable behavioral marker of the kinds of central nervous system abnormality associated with prenatal alcohol exposure, having significant potential to become a valuable diagnostic and research tool.

  13. Formative Evaluation of Clinician Experience with Integrating Family History-Based Clinical Decision Support into Clinical Practice

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    Megan Doerr


    Full Text Available Family health history is a leading predictor of disease risk. Nonetheless, it is underutilized to guide care and, therefore, is ripe for health information technology intervention. To fill the family health history practice gap, Cleveland Clinic has developed a family health history collection and clinical decision support tool, MyFamily. This report describes the impact and process of implementing MyFamily into primary care, cancer survivorship and cancer genetics clinics. Ten providers participated in semi-structured interviews that were analyzed to identify opportunities for process improvement. Participants universally noted positive effects on patient care, including increases in quality, personalization of care and patient engagement. The impact on clinical workflow varied by practice setting, with differences observed in the ease of integration and the use of specific report elements. Tension between the length of the report and desired detail was appreciated. Barriers and facilitators to the process of implementation were noted, dominated by the theme of increased integration with the electronic medical record. These results fed real-time improvement cycles to reinforce clinician use. This model will be applied in future institutional efforts to integrate clinical genomic applications into practice and may be useful for other institutions considering the implementation of tools for personalizing medical management.

  14. A history of clinical psychology as a profession in America (and a glimpse at its future). (United States)

    Benjamin, Ludy T


    Clinical psychology emerged as a profession in the United States in the 1890s with studies conducted by psychologists with patients in the mental asylums of that time, and with the founding of Witmer's psychological clinic, where he treated children with learning and behavioral problems. This chapter traces the history of clinical psychology as a profession, from the focus on assessment at the turn of the twentieth century to the provision of psychotherapy that would come to dominate the field after World War II. It concludes with a discussion of some of the contemporary concerns in the profession and how those might impact the future practice of clinical psychologists.

  15. Historical thinking in clinical medicine: lessons from R.G. Collingwood's philosophy of history. (United States)

    Chin-Yee, Benjamin H; Upshur, Ross E G


    The aim of this article is to create a space for historical thinking in medical practice. To this end, we draw on the ideas of R.G. Collingwood (1889-1943), the renowned British philosopher of history, and explore the implications of his philosophy for clinical medicine. We show how Collingwood's philosophy provides a compelling argument for the re-centring of medical practice around the patient history as a means of restoring to the clinical encounter the human meaning that is too often lost in modern medicine. Furthermore, we examine how Collingwood's historical thinking offers a patient-centred epistemology and a more pluralistic concept of evidence that includes the qualitative, narrative evidence necessary for human understanding. We suggest that clinical medicine can benefit from Collingwood's historical thinking, and, more generally, illustrates how a philosophy of medicine that draws on diverse sources from the humanities offers a richer, more empathetic clinical practice. © 2015 John Wiley & Sons, Ltd.

  16. Abnormalities of laboratory coagulation tests versus clinically evident coagulopathic bleeding: results from the prehospital resuscitation on helicopters study (PROHS). (United States)

    Chang, Ronald; Fox, Erin E; Greene, Thomas J; Swartz, Michael D; DeSantis, Stacia M; Stein, Deborah M; Bulger, Eileen M; Melton, Sherry M; Goodman, Michael D; Schreiber, Martin A; Zielinski, Martin D; O'Keeffe, Terence; Inaba, Kenji; Tomasek, Jeffrey S; Podbielski, Jeanette M; Appana, Savitri; Yi, Misung; Johansson, Pär I; Henriksen, Hanne H; Stensballe, Jakob; Steinmetz, Jacob; Wade, Charles E; Holcomb, John B


    Laboratory-based evidence of coagulopathy (LC) is observed in 25-35% of trauma patients, but clinically-evident coagulopathy (CC) is not well described. Prospective observational study of adult trauma patients transported by helicopter from the scene to nine Level 1 trauma centers in 2015. Patients meeting predefined highest-risk criteria were divided into CC+ (predefined as surgeon-confirmed bleeding from uninjured sites or injured sites not controllable by sutures) or CC-. We used a mixed-effects, Poisson regression with robust error variance to test the hypothesis that abnormalities on rapid thrombelastography (r-TEG) and international normalized ratio (INR) were independently associated with CC+. Of 1,019 highest-risk patients, CC+ (n=41, 4%) were more severely injured (median ISS 32 vs 17), had evidence of LC on r-TEG and INR, received more transfused blood products at 4 hours (37 vs 0 units), and had greater 30-day mortality (59% vs 12%) than CC- (n=978, 96%). The overall incidence of LC was 39%. 30-day mortality was 22% vs 9% in those with and without LC. In two separate models, r-TEG K-time >2.5 min (RR 1.3, 95% CI 1.1-1.7), r-TEG mA 1.5 (RR 5.4, 95% CI 1.8-16.3) were independently associated with CC+. A combined regression model was not generated because too few patients underwent both r-TEG and INR. CC was rare compared to LC. CC was associated with poor outcomes and impairment of both clotting factor and platelet-mediated coagulation components. (Surgery 2017;160:XXX-XXX.). Copyright © 2017 Elsevier Inc. All rights reserved.

  17. First-Step Results of Children Presenting with Bleeding Symptoms or Abnormal Coagulation Tests in an Outpatient Clinic

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    İsmail Yıldız


    Full Text Available Objective: Mild bleeding symptoms are commonly seen in the general population. The aim of this study was to determine the final clinical and laboratory features of children referred for a first evaluation with a suspected bleeding disorder in the pediatric outpatient clinic of İstanbul University. Materials and Methods: The medical records of 26,737 outpatients who were admitted to the Division of Ambulatory Pediatrics between 31 October 2011 and 31 October 2012 were evaluated retrospectively. Ninety-nine patients were initially diagnosed as having probable bleeding disorders and were followed up. The symptoms of bleeding in addition to coagulation tests were analyzed. Results: Of the 99 patients, 52 (52.5% were male and 47 were female, and the mean age of the entire study group was 9.1±4.1 years (minimum-maximum: 2-18 years. Major bleeding symptoms were epistaxis in 36 patients (36.4%, easy bruising in 32 (32.3%, and menorrhagia in 6 (6.1%. After initial tests ordered by the pediatrician, 36 of 99 patients (36.4% were diagnosed as having bleeding disorders that included von Willebrand disease in 12 (12.1%, hemophilia A or B in 9 (9.1%, and other rare factor deficiencies in 9 (9.1%. Six patients (6.1% were found to have combined deficiencies. Seven of 36 patients had a family history of bleeding. Conclusion: Among the patients referred for bleeding disorders, 36.4% were diagnosed with a bleeding disorder with the help of primary screening tests ordered in the outpatient clinic.

  18. Clinical Nursing Education: Using the FICA Spiritual History Tool to Assess Patients' Spirituality. (United States)

    Williams, Margaret G; Voss, Autumn; Vahle, Barb; Capp, Sheila


    Nursing students often find it difficult to address spirituality in clinical practice. The purpose of this study was to examine the effect of students' use of the FICA Spiritual History Tool during clinical practice on their own spirituality and comfort with the provision of spiritual care. The students (N = 31) completed the Spirituality and Spiritual Care Rating Scale at the beginning and end of the semester, which revealed changes, although not statistically significant, in students' spirituality, religiosity, and their provision of spiritual care.

  19. REVIEW: Back to the future: the history and development of the clinical linear accelerator (United States)

    Thwaites, David I.; Tuohy, John B.


    The linear accelerator (linac) is the accepted workhorse in radiotherapy in 2006. The first medical linac treated its first patient, in London, in 1953, so the use of these machines in clinical practice has been almost co-existent with the lifetime of Physics in Medicine and Biology. This review is a personal selection of things the authors feel are interesting in the history, particularly the early history, and development of clinical linacs. A brief look into the future is also given. One significant theme throughout is the continuity of ideas, building on previous experience. We hope the review might re-connect younger radiotherapy physicists in particular with some of the history and emphasize the continual need, in any human activity, to remain aware of the past, in order to make best use of past experience when taking decisions in the present.

  20. Hip joint pathology: relationship between patient history, physical tests, and arthroscopy findings in clinical practice

    NARCIS (Netherlands)

    Tijssen, M.; Cingel, R.E. van; Visser, E de; Holmich, P.; Nijhuis-Van der Sanden, M.W.G.


    The purpose of this retrospective cohort study was to (a) describe the clinical presentation of femoroacetabular impingement (FAI) and hip labral pathology; (b) describe the accuracy of patient history and physical tests for FAI and labral pathology as confirmed by hip arthroscopy. Patients (18-65

  1. Maternal Drug Abuse History, Maltreatment, and Functioning in a Clinical Sample of Urban Children (United States)

    Onigu-Otite, Edore C.; Belcher, Harolyn M. E.


    Objective: This study examined the association between maternal drug abuse history, maltreatment exposure, and functioning, in a clinical sample of young children seeking therapy for maltreatment. Methods: Data were collected on 91 children, mean age 5.3 years (SD 1.0). The Preschool and Early Childhood Functional Assessment Scales (PECFAS) was…

  2. The influence of family history on prostate cancer risk : implications for clinical management

    NARCIS (Netherlands)

    Madersbacher, Stephan; Alcaraz, Antonio; Emberton, Mark; Hammerer, Peter; Ponholzer, Anton; Schroeder, Fritz H.; Tubaro, Andrea

    A family history of prostate cancer has long been identified as an important risk factor for developing the disease. This risk factor can be easily assessed in clinical practice and current guidelines recommend to initiate prostate cancer early detection 5 years earlier (i.e. around the age of 40

  3. Meiotic abnormalities

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    Chapter 19, describes meiotic abnormalities. These include nondisjunction of autosomes and sex chromosomes, genetic and environmental causes of nondisjunction, misdivision of the centromere, chromosomally abnormal human sperm, male infertility, parental age, and origin of diploid gametes. 57 refs., 2 figs., 1 tab.

  4. Clinical significance of exercise-induced left ventricular wall motion abnormality occurring at a low heart rate

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    Kimchi, A.; Rozanski, A.; Fletcher, C.; Maddahi, J.; Swan, H.J.; Berman, D.S.


    We studied the relationship between the heart rate at the time of onset of exercise-induced wall motion abnormality and the severity of coronary artery disease in 89 patients who underwent exercise equilibrium radionuclide ventriculography as part of their evaluation for coronary artery disease. Segmental wall motion was scored with a five-point system (3 = normal; -1 = dyskinesis); a decrease of one score defined the onset of wall motion abnormality. The onset of wall motion abnormality at less than or equal to 70% of maximal predicted heart rate had 100% predictive accuracy for coronary artery disease and higher sensitivity than the onset of ischemic ST segment depression at similar heart rate during exercise: 36% (25 of 69 patients with coronary disease) vs 19% (13 of 69 patients), p = 0.01. Wall motion abnormality occurring at less than or equal to 70% of maximal predicted heart rate was present in 49% of patients (23 of 47) with critical stenosis (greater than or equal to 90% luminal diameter narrowing), and in only 5% of patients (2 of 42) without such severe stenosis, p less than 0.001. The sensitivity of exercise-induced wall motion abnormality occurring at a low heart rate for the presence of severe coronary artery disease was similar to that of a deterioration in wall motion by more than two scores during exercise (49% vs 53%) or an absolute decrease of greater than or equal to 5% in exercise left ventricular ejection fraction (49% vs 45%).

  5. Rickettsioses in Denmark: A retrospective survey of clinical features and travel history

    DEFF Research Database (Denmark)

    Ocias, Lukas Frans; Jensen, Bo Bødker; Villumsen, Steen


    Rickettsia spp. can be found across the globe and cause disease of varying clinical severity, ranging from life-threatening infections with widespread vasculitis to milder, more localized presentations. Vector and, to some degree, reservoir are hematophagous arthropods, with most species harboured...... by ticks. In Denmark, rickettsiae are known as a cause of imported travel-related infections, but are also found endemically in ticks across the country. Data are, however, lacking on the geographical origin and clinical features of diagnosed cases. In this study, we have examined the travel history...... telephone interviews with PHC centers. Of the hospital patients, 91% (78/86) had a history of international travel 14 days prior to symptom start, with most having imported their infection from southern Africa, South Africa in particular (65%), and presenting with a clinical picture most compatible...

  6. The role of abnormally activated microglia in the pathogenesis of Parkinson's disease and its potential clinical application

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    DING Jian-qing


    Full Text Available Parkinson's disease (PD is a neurodegenerative disorder which usually affects old-aged people, and the mechanism underling the disease still remains unknown. Recent studies have suggested that abnormally activated microglia plays an important role in the pathogenesis of the disease. Several stimuli, such as α-synuclein, neurotoxins, aging, as well as attenuated or deficient inhibiting signals of endogenous CD200-CD200R can cause the abnormal activation of microglia, which will result in dopaminergic neuron injuries through secreting pro-inflammatory cytokines such as tumor necrosis factor-α (TNF-α and interleukin-1β (IL-1β, activating inducible nitric oxide synthase (iNOS, cyclooxygenase-2 (COX-2 and nicotinamide adenine dinucleotide phosphate oxidase-2 (NOX-2. Therefore, it may be a novel way for PD therapy to inhibit neuroinflammatory injuries by suppressing the abnormal activation of microglia.

  7. Factors predictive of abnormal semen parameters in male partners of couples attending the infertility clinic of a tertiary hospital in south-western Nigeria

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    Peter Olusola Aduloju


    Full Text Available Background: Infertility is a common gynaecological problem and male factor contributes significantly in the aetiology of infertility. Semen analysis has remained a useful investigation in the search for male factor infertility. Aim: This study assessed the pattern of semen parameters and predictive factors associated with abnormal parameters in male partners of infertile couples attending a Nigerian tertiary hospital. Methods: A descriptive study of infertile couples presenting at the clinic between January 2012and December 2015 was done at Ekiti State University Teaching Hospital, Ado-Ekiti. Seminal fluid from the male partners were analysed in the laboratory using the WHO 2010 criteria for human semen characteristics. Data was analysed using SPSS 17 and logistic regression analysis was used to determine the predictive factors associated with abnormal semen parameters. Results: A total of 443 men participated in the study and 38.2% had abnormal sperm parameters. Oligozoospermia (34.8% and asthenozoospermia (26.9% are leading single factor abnormality found, astheno-oligozoospermia occurred in 14.2% and oligo-astheno-teratozoospermia in 3.6% of cases. The prevalence of azoospermia was 3.4%. Smoking habit, past infection with mumps and previous groin surgery significantly predicted abnormal semen parameters with p values of 0.025, 0.040 and 0.017 respectively. Positive cultures were recorded in 36.2% of cases and staph aureus was the commonest organism. Conclusion: Male factor abnormalities remain significant contributors to infertility and men should be encouraged through advocacy to participate in investigation of infertility to reduce the level of stigmatization and ostracizing of women with infertility especially in sub-Saharan Africa.

  8. Ultrasonographic abnormalities and inter-reader reliability in Danish patients with systemic lupus erythematosus - a comparison with clinical examination of wrist and metacarpophalangeal joints

    DEFF Research Database (Denmark)

    Dreyer, L; Jacobsen, Søren; Juul, L


    . METHODS: Thirty-three female SLE patients were twice examined with US by three trained examiners. Using B-mode and Doppler US, unilateral wrist and metacarpophalangeal (MCP) joints were examined for synovitis and erosions as well as signs of hand tenosynovitis using a GE Logiq 9 US machine with Doppler......%) and 0 (p = 0.06). In SLE patients, 18% had hand tenosynovitis and 6% bone erosions. Wrist synovitis was detected by US in 16 SLE patients (81%) with arthralgia compared with 17 patients without (18%) (p = 0.0005). Any US abnormalities were observed in 44% of 25 wrists without tenderness at clinical...... of synovitis, erosions and tenosynovitis indicating subclinical disease. Even SLE patients without clinical signs of joint inflammation demonstrated US abnormalities. Good to excellent inter-observer reliability was found in US evaluation of hands in patients with SLE....

  9. Observable phenomena that reveal medical students' clinical reasoning ability during expert assessment of their history taking: a qualitative study

    NARCIS (Netherlands)

    Haring, C.M.; Cools, B.M.; Gurp, P.J.M. van; Meer, J.W.M. van der; Postma, C.T.


    BACKGROUND: During their clerkships, medical students are meant to expand their clinical reasoning skills during their patient encounters. Observation of these encounters could reveal important information on the students' clinical reasoning abilities, especially during history taking. METHODS: A

  10. Walking abnormalities (United States)

    ... with short-term or long-term gait disorders. Therapy will reduce the risk of falls and other injuries. For an abnormal gait that occurs with conversion disorder, counseling and support from family members are ...

  11. Brief history of the clinical diagnosis of malaria: from Hippocrates to Osler. (United States)

    Cunha, Cheston B; Cunha, Burke A


    Since antiquity, malaria had a major impact on world history but this brief historical overview focuses on clinical features of malaria from Hippocrates to Osler. In antiquity, physicians tried to differentiate malaria from other acute fevers. The classic descriptions of malaria by Hippocrates in ancient Greece and Celsus in ancient Rome are excerpted here from the original Greek and Latin. Their clear clinical descriptions prove malaria was recognized in antiquity. In the modern era, it remains difficult to clinically differentiate malaria from typhoid fever. Since physicians used the term 'typhomalaria' to describe acute undifferentiated fevers a testimony to their lack of clinical acumen. Osler, the great clinician, by careful observation in clinical features and fever patterns was able to clearly differentiate malaria from typhoid fever as did the ancients.

  12. [Clinical research of the otolith abnormal migration during canalith repositioning procedures for posterior semicircular canal benign paroxysmal positional vertigo]. (United States)

    Ou, Yongkang; Zheng, Yiging; Zhu, Honglei; Chen, Ling; Zhong, Junwei; Tang, Xiaowu; Huang, Qiuhong; Xu, Yaodong


    To investigate the risk factor,type and characteristic nystagmus of the otolith abnormal migration during diagnosis and treatment for posterior semicircular canal benign paroxysmal positional vertigo (PSC-BPPV). The therapy and prevention is also discussed. Four hundred and seventy-nine patients with PSC-BPPV were treated by Epley's canalith repositioning procedures(CRP) from March 2009 to March 2012. We observed otolith abnormal migration complicating during diagnosis and treatment. According the type of otolith abnormal migration, the additional repositioning maneuver was performed. The rate of complication was 8. 1%(39/479), with canal conversion in 5.4%(26/479) and primarily canal reentry in 2.7%(13/479). The rate of incidence of conversion to horizontal canal conversion and anterior canal were 4. 8%(23/479)and 0. 6%(3/479) respectively. All the patient was cured in follow up. The risk factors were unappropriated head movement during or after CRP, including another Dix-Hallpike were performed immediately. To prevent the complications,the pathognostic positioning sequence and angle of head rotation are commenced during CRP. Appropriate short time postural restrictions post-treatment is necessary. Careful observation of nystagrnus variation is crucial to determine the otolith abnormal migration.

  13. The role of the second heart field in pulmonary vein development : new insights in the origin of clinical abnormalities

    NARCIS (Netherlands)

    Douglas, Yvonne Louise


    In this thesis we describe normal and abnormal pulmonary vein development in human and mouse hearts, and focus on the histo(patho)logy of the pulmonary venous and left atrial dorsal wall, in order to elucidate the role of the posterior heart field in the formation and differentiation of the

  14. Saccades and vergence performance in a population of children with vertigo and clinically assessed abnormal vergence capabilities. (United States)

    Bucci, Maria Pia; Kapoula, Zoï; Bui-Quoc, Emmanuel; Bouet, Aurelie; Wiener-Vacher, Sylvette


    Early studies reported some abnormalities in saccade and vergence eye movements in children with vertigo and vergence deficiencies. The purpose of this study was to further examine saccade and vergence performance in a population of 44 children (mean age: 12.3±1.6 years) with vertigo symptoms and with different levels of vergence abnormalities, as assessed by static orthoptic examination (near point of convergence, prism bar and cover-uncover test). Three groups were identified on the basis of the orthoptic tests: group 1 (n = 13) with vergence spasms and mildly perturbed orthoptic scores, group 2 (n = 14) with moderately perturbed orthoptic scores, and group 3 (n = 17) with severely perturbed orthoptic scores. Data were compared to those recorded from 28 healthy children of similar ages. Latency, accuracy and peak velocity of saccades and vergence movements were measured in two different conditions: gap (fixation offset 200 ms prior to target onset) and simultaneous paradigms. Binocular horizontal movements were recorded by a photoelectric device. Group 2 of children with vergence abnormalities showed significantly longer latency than normal children in several types of eye movements recorded. For all three groups of children with vergence abnormalities, the gain was poor, particularly for vergence movement. The peak velocity values did not differ between the different groups of children examined. Eye movement measures together with static orthoptic evaluation allowed us to better identify children with vergence abnormalities based on their slow initiation of eye movements. Overall, these findings support the hypothesis of a central deficit in the programming and triggering of saccades and vergence in these children.

  15. Saccades and vergence performance in a population of children with vertigo and clinically assessed abnormal vergence capabilities.

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    Maria Pia Bucci

    Full Text Available PURPOSE: Early studies reported some abnormalities in saccade and vergence eye movements in children with vertigo and vergence deficiencies. The purpose of this study was to further examine saccade and vergence performance in a population of 44 children (mean age: 12.3±1.6 years with vertigo symptoms and with different levels of vergence abnormalities, as assessed by static orthoptic examination (near point of convergence, prism bar and cover-uncover test. METHODS: Three groups were identified on the basis of the orthoptic tests: group 1 (n = 13 with vergence spasms and mildly perturbed orthoptic scores, group 2 (n = 14 with moderately perturbed orthoptic scores, and group 3 (n = 17 with severely perturbed orthoptic scores. Data were compared to those recorded from 28 healthy children of similar ages. Latency, accuracy and peak velocity of saccades and vergence movements were measured in two different conditions: gap (fixation offset 200 ms prior to target onset and simultaneous paradigms. Binocular horizontal movements were recorded by a photoelectric device. RESULTS: Group 2 of children with vergence abnormalities showed significantly longer latency than normal children in several types of eye movements recorded. For all three groups of children with vergence abnormalities, the gain was poor, particularly for vergence movement. The peak velocity values did not differ between the different groups of children examined. INTERPRETATION: Eye movement measures together with static orthoptic evaluation allowed us to better identify children with vergence abnormalities based on their slow initiation of eye movements. Overall, these findings support the hypothesis of a central deficit in the programming and triggering of saccades and vergence in these children.

  16. Clinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermia. (United States)

    Ocak, Zeynep; Üyetüork, Uğur; Dinçer, Muhammet Murat


    To illustrate the importance of genetic screening in the assessment of fertility and the correct diagnosis in patients with azoospermia or severe oligospermia. This study examined 500 patients with reproductive failure, having fewer than 5 million sperm/mL detected in at least 2 consecutive spermiograms, who presented at a medical genetics polyclinic between 2008 and 2012. Metaphase preparations obtained from cell cultures were stained by trypsin-Giemsa banding. After DNA isolation, Y chromosome loci, including AZFa (SY84, SY86), AZFb (SY127, SY134), AZFc (SY254 SY255), and AZFd, were amplified by polymerase chain reaction using specific primers. Thirty-five patients with congenital unilateral absence of the vas deferens or congenital bilateral absence of the vas deferens (CBAVD) and a positive cystic fibrosis family history were evaluated for cystic fibrosis transmembrane conductance regulator gene mutations. No chromosomal abnormalities were noted in 440 (88%) of the 500 patients, whereas structural or numerical chromosomal abnormalities were detected in 60 patients (12%). Individuals with Y deletions made up 5.6% (n = 28) of the study sample. Three patients with no AZF deletion or chromosomal abnormality, but with CBAVD, were heterozygous for I148T, G1130A, or IVS3 406- 3T>C mutations. This study shows that genetic testing can make an important contribution to the treatment of patients planning in vitro fertilization due to azoospermia or severe oligospermia.


    Directory of Open Access Journals (Sweden)

    Sathenahalli Devegowda Prathibha


    Full Text Available BACKGROUND AND OBJECTIVES Abnormal Uterine Bleeding (AUB is a very frequent gynaecological complaint and occurs across the entire age spectrum, approximately 75000 hysterectomies are carried out each year with 30% of these for menstrual problems alone. These menstrual aberrations occur more commonly at extremes of reproductive life. The introduction of hysteroscopy has opened a new dimension in evaluation of patient with AUB replacing the blind technique of Dilatation and Curettage. The present study was undertaken to know the accuracy of various tests with Histopathology. MATERIALS AND METHODS The present prospective study was carried out on 100 patients from reproductive, perimenopausal and postmenopausal age group with abnormal uterine bleeding in Dr. B. R. Ambedkar Medical College and Hospital. RESULTS In the present study, in relation to histopathological examination, clinical findings and hysteroscopy had better accuracy (72% as compared to ultrasound findings (41% in diagnosis of abnormal uterine bleeding. CONCLUSION Hysteroscopy guided biopsy and histopathology complements each other in the evaluation of patient with abnormal uterine bleeding for accurate diagnosis and further treatment.

  18. Derivation and Validation of Predictive Factors for Clinical Deterioration after Admission in Emergency Department Patients Presenting with Abnormal Vital Signs Without Shock

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    Daniel J. Henning


    Full Text Available Introduction: Strategies to identify high-risk emergency department (ED patients often use markedly abnormal vital signs and serum lactate levels. Risk stratifying such patients without using the presence of shock is challenging. The objective of the study is to identify independent predictors of in-hospital adverse outcomes in ED patients with abnormal vital signs or lactate levels, but who are not in shock. Methods: We performed a prospective observational study of patients with abnormal vital signs or lactate level defined as heart rate ≥130 beats/min, respiratory rate ≥24 breaths/min, shock index ≥1, systolic blood pressure 4.0mmol/L (OR 5.1, 95% CI [2.1–12.2], age ≥80 yrs (OR 1.9, CI [1.0–3.7], bicarbonate <21mEq/L (OR 2.5, CI [1.3–4.9], and initial HR≥130 (OR 3.1, CI [1.5–6.1]. Conclusion: Patients exhibiting abnormal vital signs or elevated lactate levels without shock had significant rates of deterioration after hospitalization. ED clinical data predicted patients who suffered adverse outcomes with reasonable reliability.


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    K. A. Kireev


    Full Text Available Clinical case history of endovascular intervention in infarct related coronary artery with 4 sirolimus-eluting stents implantation and their further thrombosis during early postoperative period is described. Percutaneous coronary intervention was successful after the balanced medication with 2 antiplatelet drugs (acetylsalicylic acid and clopidogrel and heparin. There were not any reasons for additional prescription of antiplatelet medicine. It seems that one of the main reasons of the stent thrombosis was the extended area of 4 sirolimus-eluting stents implantation into the affected vessel. After the analysis of our clinical case history we propose that for stent thrombosis prevention in multistent (≥4 drugeluting stents interventions it is necessary to apply additional antiplatelet drug – glycoprotein IIb/IIIa inhibitor eptifibatide.


    Directory of Open Access Journals (Sweden)

    K. A. Kireev


    Full Text Available Clinical case history of endovascular intervention in infarct related coronary artery with 4 sirolimus-eluting stents implantation and their further thrombosis during early postoperative period is described. Percutaneous coronary intervention was successful after the balanced medication with 2 antiplatelet drugs (acetylsalicylic acid and clopidogrel and heparin. There were not any reasons for additional prescription of antiplatelet medicine. It seems that one of the main reasons of the stent thrombosis was the extended area of 4 sirolimus-eluting stents implantation into the affected vessel. After the analysis of our clinical case history we propose that for stent thrombosis prevention in multistent (≥4 drugeluting stents interventions it is necessary to apply additional antiplatelet drug – glycoprotein IIb/IIIa inhibitor eptifibatide.

  1. Maternal drug abuse history, maltreatment, and functioning in a clinical sample of urban children. (United States)

    Onigu-Otite, Edore C; Belcher, Harolyn M E


    This study examined the association between maternal drug abuse history, maltreatment exposure, and functioning, in a clinical sample of young children seeking therapy for maltreatment. Data were collected on 91 children, mean age 5.3years (SD 1.0). The Preschool and Early Childhood Functional Assessment Scales (PECFAS) was used to measure functional impairment. A child maltreatment exposure (CME) score was developed based on maltreatment history. Data on maternal risk factors including maternal drug abuse (MDA) were obtained. Data were analyzed using descriptive statistics and regression modeling. Approximately half (47.3%) of the children had a history of MDA. MDA history was associated with increased odds of neglect (OR=5.6, 95% CI=2.2-14.6) and abandonment (OR=3.3, 95% CI=1.3-8.3), and decreased odds of sexual abuse (OR=0.35, 95% CI=0.2-0.8). There were no statistically significant differences in CME scores for children with MDA history when compared to children without MDA history. Children with MDA history had an increased mean functional impairment score (mean 15 points; 95% CI=1.3-29.2) compared to children without MDA history. Following adjustment for maltreatment, no difference in impairment score was found. Although MDA history was associated with higher odds of neglect and abandonment, it was not associated with total CME or functional impairment. Adverse socio-environmental experiences associated with urban environments may confer a high risk of CME and functional impairment, irrespective of MDA history. In addition to maternal drug abuse, clinicians working with children need to identify other factors which could place the child at added risk for maltreatment. Further research is needed to better understand the role of adverse socio-environmental experiences on maltreatment and functional impairment in children. This study highlights the need for a multi-disciplinary approach to prevention and intervention programs needed to diminish adverse socio

  2. Giant Cell Glioblastoma in a Child with Clinical and Family History of Neurofibromatosis. (United States)

    Pant, Ishita; Nazir, Wajid; Ujjawal, Vinita; Chaturvedi, Sujata


    We report a case of giant cell glioblastoma (GCG) in a 13-year-old child with clinical features and family history of neurofibromatosis type 1 (NF1). To the best of our knowledge, only two cases of GCG have been reported in a scenario of NF1, and only one of that was in a pediatric age group. A report on our case is presented here along with a review of literature.

  3. Correlation of sole prenatal indication to fetal chromosomal karyotype abnormality

    Directory of Open Access Journals (Sweden)

    Ying XU


    Full Text Available Objective  To analysis the clinical high risk factors for fetal chromosomal abnormalities. Methods  Amniocentesis, chromosomal karyotype analysis and other related methods were performed on 4829 pregnant women, who presented sole indication of prenatal diagnosis such as advanced age, high risk factors and fetal ultrasound abnormalities, for analyzing the correlations of those women to the incidence of fetal chromosomal abnormalities. Results  The detection rates of abnormal karyotype were 5.0% (57/1143, 1.7% (40/2367 and 4.3% (57/1319 in the older women group (age>35, abnormal maternal serological screening group and abnormal fetal ultrasound finding group, respectively. The detection rats of karyotype abnormality were 6.9% (23/333 in women with fetal congenital heart diseases, 8.5% (20/234 in those with abnormal amniotic fluid, 1.1% (1/89 in those with fetal ventriculomegaly, 1.1% (10/898 in those with fetal intracardiac hyperechogenicity, 5.9% (2/34 in those with fetal choroid cyst and 5.6% (1/18 in those with fetal renal pelvis broadening. Conclusion  The pregnant women with age>35, fetal sonographic structural anomalies or two or more soft marker abnormalities should be prenatally diagnosed and doing the genetic counseling combined with the family history. DOI: 10.11855/j.issn.0577-7402.2017.02.14

  4. Abnormal Uterine Bleeding: American College of Nurse-Midwives. (United States)


    Variations in uterine bleeding, termed abnormal uterine bleeding, occur commonly among women and often are physiologic in nature with no significant consequences. However, abnormal uterine bleeding can cause significant distress to women or may signify an underlying pathologic condition. Most women experience variations in menstrual and perimenstrual bleeding in their lifetimes; therefore, the ability of the midwife to differentiate between normal and abnormal bleeding is a key diagnostic skill. A comprehensive history and use of the PALM-COEIN classification system will provide clear guidelines for clinical management, evidence-based treatment, and an individualized plan of care. The purpose of this Clinical Bulletin is to define and describe classifications of abnormal uterine bleeding, review updated terminology, and identify methods of assessment and treatment using a woman-centered approach. © 2016 by the American College of Nurse-Midwives.

  5. Clinical utility of a multigated modified anterior projection in the detection of left ventricular inferior and apical wall motion abnormalities

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    Polak, J.F.; Bianco, J.A.; Kemper, A.J.; Tow, D.E.


    Recent evidence indicates that the left anterior oblique projection (LAO) multigated radionuclide ventriculogram (RVG) underestimates presence and extent of apical and inferior left ventricular (LV) wall motion abnormalities. We investigated, prospectively, the sensitivity and specificity of a modified anterior projection (MAP), which incorporates cephalad tilting. Thirty-three consecutive patients undergoing cardiac catheterization suspected to have coronary artery disease were studied with RVG, using both the MAP and LAO views. LAO views were analyzed using the ejection fraction image (REFI), and the regional ejection fraction (REF) of the inferoapical region. The MAP studies were analyzed using stroke volume image (SVI) to evaluate apical and inferior LV regions. Results were as follows: (Formula: see text), Both intraobserver and interobserver variabilities were comparable to those of conventional angiographic studies used in detection of apical and inferior asynergy. It is concluded that the multigated MAP offers additional information about abnormalities of the LV inferior and apical regions.

  6. Development of a Primary Care-Based Clinic to Support Adults With a History of Childhood Cancer: The Tactic Clinic. (United States)

    Overholser, Linda S; Moss, Kerry M; Kilbourn, Kristin; Risendal, Betsy; Jones, Alison F; Greffe, Brian S; Garrington, Timothy; Leonardi-Warren, Kristin; Yamashita, Traci E; Kutner, Jean S


    Describe the development and evolution of a primary-care-based, multidisciplinary clinic to support the ongoing care of adult survivors of childhood cancer. A consultative clinic for adult survivors of childhood cancer has been developed that is located in an adult, academic internal medicine setting and is based on a long-term follow-up clinic model available at Children's Hospital Colorado. The clinic opened in July 2008. One hundred thirty-five patients have been seen as of April 2014. Referrals and clinic capacity have gradually increased over time, and a template has been developed in the electronic medical record to help facilitate completion of individualized care plan letters. A primary care-based, multidisciplinary consultative clinic for adults with a history of childhood cancer survivor is feasible and actively engages adult primary care resources to provide risk-based care for long-term pediatric cancer survivors. This model of care planning can help support adult survivors of pediatric cancer and their primary care providers in non-academic, community settings as well. Copyright © 2015 Elsevier Inc. All rights reserved.

  7. The prevalence and clinical significance of sonographic tendon abnormalities in asymptomatic ballet dancers: a 24-month longitudinal study. (United States)

    Comin, Jules; Cook, Jill L; Malliaras, Peter; McCormack, Moira; Calleja, Michelle; Clarke, Andrew; Connell, David


    Sonographic abnormalities of the achilles and patellar tendons are common findings in athletes, and tendinopathy is a common cause of pain and disability in athletes. However, it is unclear whether the sonographic changes are pathological or adaptive, or if they predict future injury. We undertook a cohort study to determine what sonographic features of the achilles and patellar tendons are consistent with changes as a result of ballet training, and which may be predictive of future development of disabling tendon symptoms. The achilles and patellar tendons of 79 (35 male, 44 female) professional ballet dancers (members of the English Royal Ballet) were examined with ultrasound, measuring proximal and distal tendon diameters and assessing for the presence of hypoechoic change, intratendon defects, calcification and neovascularity. All subjects were followed for 24 months for the development of patellar tendon or achilles-related pain or injury severe enough to require time off from dancing. Sonographic abnormalities were common among dancers, both male and female, and in both achilles and patellar tendons. Disabling tendon-related symptoms developed in 10 dancers and 14 tendons: 7 achilles (3 right, 4 left) and 7 patellar (2 right, 5 left). The presence of moderate or severe hypoechoic defects was weakly predictive for the development of future disabling tendon symptoms (p=0.0381); there was no correlation between any of the other sonographic abnormalities and the development of symptoms. There was no relationship between achilles or patellar tendons' diameter, either proximal or distal, with an increased likelihood of developing tendon-related disability. The presence of sonographic abnormalities is common in ballet dancers, but only the presence of focal hypoechoic changes predicts the development of future tendon-related disability. This suggests that screening of asymptomatic individuals may be of use in identifying those who are at higher risk of developing

  8. Abnormalities by pulmonary regions studied with computer tomography and clinical correlation following local-regional radiotherapy for breast cancer

    Directory of Open Access Journals (Sweden)

    Kallol Bhadra


    Full Text Available Background: Adjuvant local-regional radiotherapy (RT is commonly recommended for breast cancer patients. Postoperative adjuvant RT for breast cancer is associated with pulmonary side effects. This study was undertaken to measure the RT-induced pulmonary radiological changes with computer tomography (CT scan using a CT-adapted modification of the Arriagada classification system, and to correlate these changes to RT techniques, pulmonary complications, and pulmonary function. The aim of the study is to study pulmonary radiological abnormalities with CT following different RT techniques for breast cancer, and their correlation to pulmonary complications and reduction in forced vital capacity (FVC. Materials and Methods: CT scans of the lungs were performed prior to and 4 months following RT in 53 breast cancer patients treated with local-regional RT. The radiological abnormalities were analyzed with a CT-adapted modification of a classification system originally proposed by Arriagada. The patients were monitored for RT-induced pulmonary complications. FVC was measured prior to and 6 months following RT. Statistical analysis used were that increasing CT scores were correlated with pulmonary complications ( P 0.05. Conclusions: Radiological abnormalities detected on CT images and scored with a modification of Arriagada′s classification system can be used as an objective endpoint for pulmonary side effects in postmastectomy RT.

  9. Clinical values for abnormal {sup 18}F-FDG uptake in the head and neck region of patients with head and neck squamous cell carcinoma

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    Lee, Hwan Seo [Department of Otolaryngology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of); Kim, Jae Seung [Department of Nuclear Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of); Roh, Jong-Lyel, E-mail: [Department of Otolaryngology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of); Choi, Seung-Ho; Nam, Soon Yuhl [Department of Otolaryngology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of); Kim, Sang Yoon [Department of Otolaryngology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of); Biomedical Research Institute, Korea Institute of Science and Technology, Seoul (Korea, Republic of)


    Highlights: • Abnormal {sup 18}F-FDG uptakes in the head and neck (HN) region can be carefully interpreted as being index primary, second primary cancer (SP) or benign. • {sup 18}F-FDG PET/CT identified 91.9% primary HN squamous cell carcinomas (HNSCC). • The specificity and negative predictive value of {sup 18}F-FDG PET/CT for identification of SP were as high as 98.7% and 99.3%, respectively. • Proper detection of primary tumors and SP in the HN region may promote appropriate therapeutic planning of HNSCC patients. - Abstract: Purpose: Fluorine 18-fluorodeoxyglucose ({sup 18}F-FDG) positron emission tomography (PET)/computed tomography (CT) is used to identify index or second primary cancer (SP) of the head and neck (HN) through changes in {sup 18}F-FDG uptake. However, both physiologic and abnormal lesions increase {sup 18}F-FDG uptake. Therefore, we evaluated {sup 18}F-FDG uptake in the HN region to determine clinical values of abnormal tracer uptake. Methods: A prospective study approved by the institutional review board was conducted in 314 patients with newly diagnosed HN squamous cell carcinoma (HNSCC) and informed consent was obtained from all enrolled patients. The patients received initial staging workups including {sup 18}F-FDG PET/CT and biopsies. All lesions with abnormal HN {sup 18}F-FDG uptake were recorded and most of those were confirmed by biopsies. Diagnostic values for abnormal {sup 18}F-FDG uptake were calculated. Results: Abnormal {sup 18}F-FDG uptake was identified in primary tumors from 285 (91.9%) patients. False-negative results were obtained for 22.3% (23/103) T1 tumors and 2.2% (2/93) T2 tumors (P < 0.001). Thirty-eight regions of abnormal {sup 18}F-FDG uptake were identified in 36 (11.5%) patients: the thyroid (n = 13), maxillary sinus (n = 7), palatine tonsil (n = 6), nasopharynx (n = 5), parotid gland (n = 2) and others (n = 5). Synchronous SP of the HN was identified in eight (2.5%) patients: the thyroid (n = 5), palatine

  10. Analysis of imaging findings and clinical abnormalities in patients with lymphoma; Analise de achados de imagem e alteracoes clinicas em pacientes com linfoma

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    Caldas, Flavio Augusto Ataliba; Montomiya, Carolina Tsumori [Faculdade de Medicina de Marilia, SP (Brazil)]. E-mail:; Silva, Helena Cristina da [Faculdade de Medicina de Marilia, SP (Brazil). Hospital de Clinicas


    Computed tomography is currently the method of choice for the diagnostic and staging of lymphomas. Computed tomography enables accurate measurements of both tumor extent and volume and provides information that can be used to plan an appropriate strategy for the treatment. The purpose of the present article is to describe and analyze the chest and abdomen computed tomography and ultrasound findings in HIV-negative patients with lymphoma. Clinical abnormalities, such as the reason the patient sought medical assistance already showing evidence of lymphocytic disease (not yet diagnosed at this point) and the physical examination abnormalities seen on the first consultation were also studied. This study comprised 30 patients: 40% with non-Hodgkin lymphoma, 46,6% with Hodgkin lymphoma, 10% with Burkitt's lymphoma and 3,3% with lymphoblastic lymphoma. (author)

  11. Primary prevention of neural-tube defects and some other congenital abnormalities by folic acid and multivitamins: history, missed opportunity and tasks

    National Research Council Canada - National Science Library

    Czeizel, Andrew E; Bártfai, Zoltán; Bánhidy, Ferenc


    The history of intervention trials of periconception folic acid with multivitamin and folic acid supplementation in women has shown a recent breakthrough in the primary prevention of structural birth...

  12. Neonatal disruption of serine racemase causes schizophrenia-like behavioral abnormalities in adulthood: clinical rescue by d-serine.

    Directory of Open Access Journals (Sweden)

    Hiroko Hagiwara

    Full Text Available BACKGROUND: D-Serine, an endogenous co-agonist of the N-methyl-D-aspartate (NMDA receptor, is synthesized from L-serine by serine racemase (SRR. Given the role of D-serine in both neurodevelopment and the pathophysiology of schizophrenia, we examined whether neonatal disruption of D-serine synthesis by SRR inhibition could induce behavioral abnormalities relevant to schizophrenia, in later life. METHODOLOGY/PRINCIPAL FINDINGS: Neonatal mice (7-9 days were injected with vehicle or phenazine methosulfate (Met-Phen: 3 mg/kg/day, an SRR inhibitor. Behavioral evaluations, such as spontaneous locomotion, novel object recognition test (NORT, and prepulse inhibition (PPI were performed at juvenile (5-6 weeks old and adult (10-12 weeks old stages. In addition, we tested the effects of D-serine on PPI deficits in adult mice after neonatal Met-Phen exposure. Finally, we assessed whether D-serine could prevent the onset of schizophrenia-like behavior in these mice. Neonatal Met-Phen treatment reduced D-serine levels in the brain, 24 hours after the final dose. Additionally, this treatment caused behavioral abnormalities relevant to prodromal symptoms in juveniles and to schizophrenia in adults. A single dose of D-serine improved PPI deficits in adult mice. Interestingly, chronic administration of D-serine (900 mg/kg/day from P35 to P70 significantly prevented the onset of PPI deficits after neonatal Met-Phen exposure. CONCLUSIONS/SIGNIFICANCE: This study shows that disruption of D-serine synthesis during developmental stages leads to behavioral abnormalities relevant to prodromal symptoms and schizophrenia, in later life. Furthermore, early pharmacological intervention with D-serine may prevent the onset of psychosis in adult.

  13. Clinical Outcomes and History of Fall in Patients with Atrial Fibrillation Treated with Oral Anticoagulation: Insights From the ARISTOTLE Trial. (United States)

    Rao, Meena P; Vinereanu, Dragos; Wojdyla, Daniel M; Alexander, John H; Atar, Dan; Hylek, Elaine M; Hanna, Michael; Wallentin, Lars; Lopes, Renato D; Gersh, Bernard J; Granger, Christopher B


    We assessed outcomes among anticoagulated patients with atrial fibrillation and a history of falling, and whether the benefits of apixaban vs warfarin are consistent in this population. Of the 18,201 patients in the Apixaban for Reduction in Stroke and Other Thromboembolic Events in Atrial Fibrillation (ARISTOTLE) study, 16,491 had information about history of falling-753 with history of falling and 15,738 without history of falling. The primary efficacy outcome was stroke or systemic embolism; the primary safety outcome was major bleeding. When compared with patients without a history of falling, patients with a history of falling were older, more likely to be female and to have dementia, cerebrovascular disease, depression, diabetes, heart failure, osteoporosis, fractures, and higher CHA2DS2-VASc (Congestive heart failure, Hypertension, Age ≥75 years, Diabetes mellitus, prior Stroke or TIA or thromboembolism, Vascular disease, Age 65-74 years, Sex category female) and HAS-BLED (Hypertension, Abnormal renal and liver function, Stroke, Bleeding, Labile international normalized ratio, Elderly, Drugs or alcohol) scores. Patients with a history of falling had higher rates of major bleeding (adjusted hazard ratio [HR] 1.39; 95% confidence interval [CI], 1.05-1.84; P = .020), including intracranial bleeding (adjusted HR 1.87; 95% CI, 1.02-3.43; P = .044) and death (adjusted HR 1.70; 95% CI, 1.36-2.14; P history of falling. Among those with a history of falling, subdural bleeding occurred in 5 of 367 patients treated with warfarin and 0 of 386 treated with apixaban. Patients with atrial fibrillation and a history of falling receiving anticoagulation have a higher risk of major bleeding, including intracranial, and death. The efficacy and safety of apixaban compared with warfarin were consistent, irrespective of history of falling. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. The role of a family history of psychosis for youth at clinical high risk of psychosis. (United States)

    Georgopoulos, Grace; Stowkowy, Jacqueline; Liu, Lu; Cadenhead, Kristin S; Cannon, Tyrone D; Cornblatt, Barbara A; McGlashan, Thomas H; Perkins, Diana O; Seidman, Larry J; Tsuang, Ming T; Walker, Elaine F; Woods, Scott W; Bearden, Carrie E; Mathalon, Daniel H; Addington, Jean


    On average, there is a 10% to 12% likelihood of developing a psychotic disorder solely based on being at familial high risk. However, the introduction of the criteria for clinical high risk (CHR) of psychosis suggested for CHR individuals, 20% to 30% will go on to develop a full-blown psychotic illness within 3 years. Several studies suggest a role for family history in conversion to psychosis among those at CHR. However, we know very little about those who meet the CHR criteria and have a positive family history for psychosis compared to those at CHR with no known family history. The aim of this study was to compare these 2 groups on demographics, clinical symptoms, social and role functioning, IQ, environmental factors and conversion to psychosis. A total of 762 participants met criteria for being at CHR, 119 of whom had a family history (CHR + FH) and 643 without (CHR-FH). Groups were compared on attenuated symptoms, role and social functioning, IQ, past trauma, perceived discrimination and cannabis use. Survival analysis was used to compare groups on conversion rates. There were no major differences between the groups in symptoms, functioning, IQ, cannabis use or in the rate of conversion between the groups. The CHR + FH group reported increased amounts of early trauma. There is a possibility that CHR + FH individuals believe that it is more difficult for them to cope with circumstances such as abuse or potential abuse. Future research on this subject should investigate family environment and its role in conversion to psychosis among CHR + FH individuals. © 2017 John Wiley & Sons Australia, Ltd.

  15. Breastfeeding and the prevention of breast cancer: a retrospective review of clinical histories. (United States)

    González-Jiménez, Emilio; García, Pedro A; Aguilar, María José; Padilla, Carlos A; Álvarez, Judit


    To evaluate at what age parous and nonparous women were diagnosed with breast cancer. Factors taken into account for parous women were whether they had breastfed their children, and if so, the length of the lactation period. Other factors considered for both groups were obesity, family histories of cancer, smoking habits and alcohol consumption. Breast cancer is the most common form of cancer in younger women in Western countries. Its growing incidence as well as the increasingly early age of diagnosis led us to carefully analyse its possible causes and the preventive measures to be taken. This is a particularly important goal in epidemiological research. A retrospective study of the clinical histories of patients diagnosed with breast cancer at the San Cecilio University Hospital in Granada (Spain). In this study, we analysed 504 medical records of female patients, 19-91 years of age, who had been diagnosed and treated for breast cancer from 2004-2009 at the San Cecilio University Hospital in Granada (Spain). Relevant data (age of diagnosis, period of lactation, family history of cancer, obesity, alcohol consumption and smoking habits) were collected from the clinical histories of each patient and analysed. A conditional inference tree was used to relate the age of diagnosis to smoking habits and the length of the lactation period. The conditional inference tree identified significant differences between the age of the patients at breast cancer diagnosis, smoking habits (p breastfeeding for over six months not only provides children with numerous health benefits, but also protects mothers from breast cancer when the mothers are nonsmokers. Nurses play a crucial role in encouraging new mothers to breastfeed their children, and this helps to prevent breast cancer. © 2013 John Wiley & Sons Ltd.

  16. Nonorganic hearing loss in children: audiometry, clinical characteristics, biographical history and recovery of hearing thresholds. (United States)

    Schmidt, Claus-Michael; am Zehnhoff-Dinnesen, Antoinette; Matulat, Peter; Knief, Arne; Rosslau, Ken; Deuster, Dirk


    The term "nonorganic hearing loss" (NOHL) (pseudohypacusis, functional or psychogenic hearing loss) describes a hearing loss without a detectable corresponding pathology in the auditory system. It is characterized by a discrepancy between elevated pure tone audiometry thresholds and normal speech discrimination. The recommended audiological management of NOHL in children comprises history taking, diagnosis, and counseling. According to the literature, prognosis depends on the severity of the patient's school and/or personal problems. Routine referral to a child psychiatrist is discussed as being controversial. The clinical history of 34 children with NOHL was retrospectively evaluated. In 15 children, follow up audiometry was performed. Results of biographical history, subjective and objective audiometry, additional speech and language assessment, psychological investigations and follow up audiometry are presented and discussed. The prevalence of NOHL was 1.8% in children with suspected hearing loss. Mean age at diagnosis was 10.8 years. Girls were twice as often affected as boys. Patient history showed a high prevalence of emotional and school problems. Pre-existing organic hearing loss can be worsened by nonorganic causes. Children with a fast recovery of hearing thresholds (n=6) showed a high rate (4/6) of family, social and emotional problems. In children with continuous threshold elevation (n=9), biographical history showed no recognizable or obvious family, social or emotional problems; learning disability (4/9) was the most frequently presented characteristic. Due to advances in objective audiometry, the diagnosis of NOHL is less challenging than management and counseling. Considering the high frequency of personal and school problems, a multidisciplinary setting is helpful. On the basis of our results, drawing conclusions from hearing threshold recovery on the severity of underlying psychic problems seems inappropriate. As a consequence, a referral to a

  17. Impact of parental history of substance use disorders on the clinical course of anxiety disorders

    Directory of Open Access Journals (Sweden)

    Moskowitz Amanda T


    Full Text Available Abstract Background Among the psychological difficulties seen in children of parents with substance use problems, the anxiety disorders are among the most chronic conditions. Although children of alcoholic parents often struggle with the effects of parental substance use problems long into adulthood, empirical investigations of the influence of parental substance use disorders on the course of anxiety disorders in adult offspring are rare. The purpose of this study was to examine prospectively the relationship between parental substance use disorders and the course of anxiety disorders in adulthood over the course of 12 years. Methods Data on 618 subjects were derived from the Harvard/Brown Anxiety Research Project (HARP, a longitudinal naturalistic investigation of the clinical course of multiple anxiety disorders. Kaplan-Meier survival estimates were used to calculate probabilities of time to anxiety disorder remission and relapse. Proportional hazards regressions were conducted to determine whether the likelihood of remission and relapse for specific anxiety disorders was lower for those who had a history of parental substance use disorders than for individuals without this parental history. Results Adults with a history of parental substance use disorders were significantly more likely to be divorced and to have a high school level of education. History of parental substance use disorder was a significant predictor of relapse of social phobia and panic disorders. Conclusion These findings provide compelling evidence that adult children of parents with substance use disorders are more likely to have relapses of social phobia and panic disorders. Clinicians who treat adults with anxiety disorders should assess parental substance use disorders and dependence histories. Such information may facilitate treatment planning with regards to their patients' level of vulnerability to perceive scrutiny by others in social situations, and ability to

  18. Occurrence and Natural History of Clinically Silent Episodes of Atrial Fibrillation in Hypertrophic Cardiomyopathy. (United States)

    Rowin, Ethan J; Orfanos, Alexander; Estes, N A Mark; Wang, Wendy; Link, Mark S; Maron, Martin S; Maron, Barry J


    Overt symptomatic atrial fibrillation (AF) occurs in over 20% of patients with hypertrophic cardiomyopathy (HC) leading to impaired quality of life, loss of productivity, and the risk for embolic stroke. However, the overall burden presented by AF in the HC population is unresolved due to the unknown frequency of silent asymptomatic episodes that do not necessarily achieve clinical recognition but nevertheless may have important disease-related implications. Therefore, stored electrograms were analyzed retrospectively for AF in 75 consecutive patients with HC (without AF history) implanted with dual-chamber cardioverter-defibrillators. Patients were followed for 5.0 ± 4.1 years at the Tufts Medical Center HCM Institute; ages were 50 ± 15 years, and 55% were male. Implantable cardioverter-defibrillator interrogation in the 75 patients showed AF to be absent in 54 (72%), 18 (24%) had clinically silent AF episodes, and the remaining 3 (4%) without previous asymptomatic episodes developed symptomatic and clinically overt paroxysmal AF. Of the 18 patients with clinically silent AF, 8 developed symptomatic AF, 4.1 ± 1.5 years later. Nonfatal embolic stroke occurred in 1 patient associated with asymptomatic AF and without other risk factors. In conclusion, clinically silent AF appears to be common in HC, occurring in almost 25% of patients. Such asymptomatic episodes of AF have important future implications, including potential thromboembolic risk, and development of symptomatic and clinically overt AF requiring prophylactic anticoagulation. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. History of postpartum depression in a clinic-based sample of women with premenstrual dysphoric disorder. (United States)

    Kepple, Alyson L; Lee, Ellen E; Haq, Nazli; Rubinow, David R; Schmidt, Peter J


    Overlapping comorbidities between premenstrual dysphoric disorder (PMDD) and postpartum depression (PPD) suggest that these disorders represent a continuum of vulnerability with shared pathophysiology. We report the past histories of PPD (and other Axis I psychiatric illnesses) in a clinic-based sample of women meeting criteria for PMDD. 215 women, ages 19 to 51 years, who attended the National Institute of Mental Health Mood Disorders Clinic between 1988 and 2013 seeking treatment for PMDD and in whom we confirmed the diagnosis of PMDD (DSM-IV), were identified. All were administered the Structured Clinical Interview for DSM-III-R or -IV. The frequency of PPD (major or minor) was established in the subgroup of women (n = 137) who had delivered at least 1 child. Ninety-three women (43.3%) had a past history of a mood disorder (ie, either major [n = 67; 31.2%] or minor [n = 10; 4.7%] depression or PPD [n = 16; 7.4%; 11.7% of parous women]). Nine of the 16 women with PMDD and a past PPD had either a past major depressive episode (MDE) or subsyndromal anxiety disorder. Thirty-three women (15.3%) had a past history of an Axis I anxiety disorder. A total of 40 women (18.6%) met criteria for past alcohol or drug abuse, 3 (1.4%) met criteria for bulimia nervosa, and 2 (0.9%) met criteria for anorexia nervosa. Our data demonstrate that PMDD and PPD do not frequently co-occur. These data do not suggest that PMDD and PPD share similar pathophysiology beyond being ovarian-steroid-triggered mood disorders. The high comorbidity of past MDE could contribute to the increased risk both for future MDE and for PPD in some women with PMDD. © Copyright 2016 Physicians Postgraduate Press, Inc.

  20. Health literacy and the perception of risk in a breast cancer family history clinic. (United States)

    Rutherford, E J; Kelly, J; Lehane, E A; Livingstone, V; Cotter, B; Butt, A; O'Sullivan, M J; O Connell, F; Redmond, H P; Corrigan, M A


    Informed consent is an essential component of medical practice, and especially so in procedural based specialties which entail varying degrees of risk. Breast cancer is one of the most common cancers in women, and as such is the focus of extensive research and significant media attention. Despite this, considerable misperception exists regarding the risk of developing breast cancer. This study aims to examine the accuracy of risk perception of women attending a breast cancer family history clinic, and to explore the relationship between risk perception accuracy and health literacy. A cross-sectional study of women attending a breast cancer family history clinic (n = 86) was carried out, consisting of a patient survey and a validated health literacy assessment. Patients' perception of personal and population breast cancer risk was compared to actual risk as calculated by a validated risk assessment tool. Significant discordance between real and perceived risks was observed. The majority (83.7%) of women overestimated their personal lifetime risk of developing breast cancer, as well as that of other women of the same age (89.5%). Health literacy was considered potentially inadequate in 37.2% of patients; there was a correlation between low health literacy and increased risk perception inaccuracy across both personal ten-year (rs = 0.224, p = 0.039) and general ten-year population estimations. (rs = 0.267, p = 0.013). Inaccuracy in risk perception is highly prevalent in women attending a breast cancer family history clinic. Health literacy inadequacy is significantly associated with this inaccuracy. Copyright © 2016 Royal College of Surgeons of Edinburgh (Scottish charity number SC005317) and Royal College of Surgeons in Ireland. Published by Elsevier Ltd. All rights reserved.

  1. Integrated Genomic Analysis Identifies Clinically Relevant Subtypes of Glioblastoma Characterized by Abnormalities in PDGFRA, IDH1, EGFR, and NF1

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    Verhaak, Roel GW; Hoadley, Katherine A; Purdom, Elizabeth; Wang, Victoria; Qi, Yuan; Wilkerson, Matthew D; Miller, C Ryan; Ding, Li; Golub, Todd; Mesirov, Jill P; Alexe, Gabriele; Lawrence, Michael; O' Kelly, Michael; Tamayo, Pablo; Weir, Barbara A; Gabriel, Stacey; Winckler, Wendy; Gupta, Supriya; Jakkula, Lakshmi; Feiler, Heidi S; Hodgson, J Graeme; James, C David; Sarkaria, Jann N; Brennan, Cameron; Kahn, Ari; Spellman, Paul T; Wilson, Richard K; Speed, Terence P; Gray, Joe W; Meyerson, Matthew; Getz, Gad; Perou, Charles M; Hayes, D Neil; Network, The Cancer Genome Atlas Research


    The Cancer Genome Atlas Network recently cataloged recurrent genomic abnormalities in glioblastoma multiforme (GBM). We describe a robust gene expression-based molecular classification of GBM into Proneural, Neural, Classical, and Mesenchymal subtypes and integrate multidimensional genomic data to establish patterns of somatic mutations and DNA copy number. Aberrations and gene expression of EGFR, NF1, and PDGFRA/IDH1 each define the Classical, Mesenchymal, and Proneural subtypes, respectively. Gene signatures of normal brain cell types show a strong relationship between subtypes and different neural lineages. Additionally, response to aggressive therapy differs by subtype, with the greatest benefit in the Classical subtype and no benefit in the Proneural subtype. We provide a framework that unifies transcriptomic and genomic dimensions for GBM molecular stratification with important implications for future studies.

  2. Evolution of clinical research: A history before and beyond james lind

    Directory of Open Access Journals (Sweden)

    Arun Bhatt


    Full Text Available The evolution of clinical research traverses a long and fascinating journey. From the first recorded trial of legumes in biblical times to the first randomized controlled of trial of streptomycin in 1946, the history of clinical trial covers a wide variety of challenges - scientific, ethical and regulatory. The famous 1747 scurvy trial conducted by James Lind contained most elements of a controlled trial. The UK Medical Research Council′s (MRC trial of patulin for common cold in 1943 was the first double blind controlled trial. This paved the way for the first randomized control trial of streptomycin in pulmonary tuberculosis carried out in 1946 by MRC of the UK. This landmark trial was a model of meticulousness in design and implementation, with systematic enrolment criteria and data collection compared with the ad hoc nature of other contemporary research. Over the years, as the discipline of controlled trials grew in sophistication and influence, the streptomycin trial continues to be referred to as ground breaking. The ethical advances in human protection include several milestones - Nuremberg Code, Declaration of Helsinki, Belmont Report, and 1996, International Conference on Harmonization Good Clinical Practice guidance. In parallel to ethical guidelines, clinical trials started to become embodied in regulation as government authorities began recognizing a need for controlling medical therapies in the early 20th century. As the scientific advances continue to occur, there will be new ethical and regulatory challenges requiring dynamic updates in ethical and legal framework of clinical trials.

  3. Late clinical events after drug-eluting stents: the interplay between stent-related and natural history-driven events

    National Research Council Canada - National Science Library

    Leon, Martin B; Allocco, Dominic J; Dawkins, Keith D; Baim, Donald S


    We evaluated the relative contributions of drug-eluting stent-specific and background natural history-driven causes for adverse clinical events between 1 and 5 years, in the paclitaxel-eluting stent (PES...

  4. A history of HbA1c through Clinical Chemistry and Laboratory Medicine. (United States)

    Gillery, Philippe


    HbA(1c) was discovered in the late 1960s and its use as marker of glycemic control has gradually increased over the course of the last four decades. Recognized as the gold standard of diabetic survey, this parameter was successfully implemented in clinical practice in the 1970s and 1980s and internationally standardized in the 1990s and 2000s. The use of standardized and well-controlled methods, with well-defined performance criteria, has recently opened new directions for HbA(1c) use in patient care, e.g., for diabetes diagnosis. Many reports devoted to HbA1c have been published in Clinical Chemistry and Laboratory Medicine (CCLM) journal. This review reminds the major steps of HbA(1c) history, with a special emphasis on the contribution of CCLM in this field.

  5. Characterisation of liver chemistry abnormalities associated with pazopanib monotherapy: a systematic review and meta-analysis of clinical trials in advanced cancer patients. (United States)

    Powles, Thomas; Bracarda, Sergio; Chen, Mei; Norry, Elliot; Compton, Natalie; Heise, Mark; Hutson, Thomas; Harter, Philipp; Carpenter, Christopher; Pandite, Lini; Kaplowitz, Neil


    Drug-induced liver chemistry abnormalities, primarily transaminase elevations, are commonly observed in pazopanib-treated patients. This meta-analysis characterises liver chemistry abnormalities associated with pazopanib. Data of pazopanib-treated patients from nine prospective trials were integrated (N=2080). Laboratory datasets were used to characterise the incidence, timing, recovery and patterns of liver events, and subsequent rechallenge with pazopanib. Severe cases of liver chemistry abnormalities were clinically reviewed. Multivariate analyses identified predisposing factors. Twenty percent of patients developed elevated alanine aminotransferase (ALT) >3×ULN. Incidence of peak ALT >3-5×ULN, >5-8×ULN, >8-20×ULN and >20×ULN was 8%, 5%, 5% and 1%, respectively. Median time to onset for all events was 42days; 91% of events were observed within 18weeks. Recovery rates based on peak ALT >3-5×ULN, >5-8×ULN, >8-20×ULN and >20×ULN were 91%, 90%, 90% and 64%, respectively. Median time from onset to recovery was 30days, but longer in patients without dose interruption. Based on clinical review, no deaths were associated with drug-induced liver injury. Overall, 38% of rechallenged patients had ALT elevation recurrence, with 9-day median time to recurrence. Multivariate analysis showed that older age was associated with development of ALT >8×ULN. There was no correlation between hypertension and transaminitis. Our data support the current guidelines on regular liver chemistry tests after initiation of pazopanib, especially during the first 9 or 10weeks, and also demonstrate the safety of rechallenge with pazopanib. Copyright © 2015. Published by Elsevier Ltd.

  6. Cardiac abnormalities in the acquired immunodeficiency syndrome. A prospective study with a clinical-pathological correlation in twenty-one adult patients

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    Herdy Gesmar Volga Haddad


    Full Text Available OBJECTIVE - To evaluate the cardiac abnormalities and their evolution during the course of the acquired immunodeficiency syndrome, as well as to correlate clinical and pathological data. METHODS - Twenty-one patients, admitted to the hospital with the diagnosis of acquired immunodeficiency syndrome, were prospectively studied and followed until their death. Age ranged from 19 to 42 years (17 males. ECG and echocardiogram were also obtained every six months. After death, macro- and microscopic examinations were also performed. RESULTS - The most frequent causes of referral to the hospital were: diarrhea or repeated pneumonias, tuberculosis, toxoplasmosis or Kaposi sarcoma. The most frequent findings were acute or chronic pericarditis (42% and dilated cardiomyopathy (19%. Four patients died of cardiac problems: infective endocarditis, pericarditis with pericardial effusion, bacterial myocarditis and infection by Toxoplasma gondii. CONCLUSION - Severe cardiac abnormalities were the cause of death in some patients. In the majority of the patients, a good correlation existed between clinical and anatomical-pathological data. Cardiac evaluation was important to detect early manifestations and treat them accordingly, even in asymptomatic patients.

  7. Relevance of Spinal Cord Abnormalities to Clinical Disability in Multiple Sclerosis: MR Imaging Findings in a Large Cohort of Patients

    NARCIS (Netherlands)

    Lukas, C.; Sombekke, M.H.; Bellenberg, B.; Hahn, H.K.; Popescu, V.; Bendfeldt, K.; Radue, E.W.; Gass, A.; Borgwardt, S.J.; Kappos, L.; Naegelin, Y.; Knol, D.L.; Polman, C.H.; Geurts, J.J.G.; Barkhof, F.; Vrenken, H.


    Purpose: To determine whether spinal cord atrophy differs among disease subtypes in multiple sclerosis (MS) and whether it offers diagnostic and clinical correlative information beyond that provided by other magnetic resonance (MR) imaging markers. Materials and Methods: The institutional review

  8. Rickettsioses in Denmark: A retrospective survey of clinical features and travel history. (United States)

    Ocias, Lukas Frans; Jensen, Bo Bødker; Villumsen, Steen; Lebech, Anne-Mette; Skarphedinsson, Sigurdur; Dessau, Ram Benny; Krogfelt, Karen Angeliki


    Rickettsia spp. can be found across the globe and cause disease of varying clinical severity, ranging from life-threatening infections with widespread vasculitis to milder, more localized presentations. Vector and, to some degree, reservoir are hematophagous arthropods, with most species harboured by ticks. In Denmark, rickettsiae are known as a cause of imported travel-related infections, but are also found endemically in ticks across the country. Data are, however, lacking on the geographical origin and clinical features of diagnosed cases. In this study, we have examined the travel history and clinical features of two groups of patients; 1) hospital-patients diagnosed with rickettsioses in the years 2010-2015 and 2) patients from primary health care (PHC) centers in Denmark having demonstrated anti-rickettsia antibodies in the years 2012-2015. The patients were identified using the Danish National Patient Registry (DNPR) and through the serological database at the State Serum Institute, where the laboratory diagnosis of rickettsioses is currently centralized. Data were collected for 86 hospital patients and 26 PHC center patients by reviewing hospital medical records and performing telephone interviews with PHC centers. Of the hospital patients, 91% (78/86) had a history of international travel 14 days prior to symptom start, with most having imported their infection from southern Africa, South Africa in particular (65%), and presenting with a clinical picture most compatible with African tick-bite fever caused by R. africae. Only two patients presented with a CRP > 100 mg/L and no mortalities were reported. At the PHC centers, most patients presented with mild flu-like symptoms and had an unknown (50%) or no history (19%) of international travel, raising the possibility of endemic rickettsioses. In view of our findings, rickettsioses do not appear to constitute a major public health problem in Denmark, with most cases being imported infections and

  9. Exploratory Study of the Clinical Characteristics of Adolescent Girls with a History of Physical or Sexual Abuse Consulting in a Mood Disorder Clinic (United States)

    LeBoeuf, Amelie; Breton, Jean-Jacques; Berthiaume, Claude; Balan, Bogdan; Huynh, Christophe; Guile, Jean-Marc; Labelle, Réal


    Objective To examine the clinical characteristics of adolescent girls consulting in a mood disorder clinic with a history of physical or sexual abuse. Method A retrospective review was conducted of the charts of 55 adolescent girls consulting in a mood disorder clinic. An analysis grid was used to gather data on demographics, personal antecedents, symptoms and diagnoses. Girls with a history of physical or sexual abuse were compared with girls without such a history. Univariate analyses and a logistic regression analysis were performed. Results Adolescent girls with a history of physical or sexual abuse did not differ statistically from those without such a history in terms of depressive symptoms or type and number of diagnoses. However, proportionally more girls with a history of physical or sexual abuse presented self-harm and relational problems with their parents and peers. Conclusion Both history of physical or sexual abuse and self-destructive behaviors are rooted in relational problems. The results show that these are related to one another among those adolescent girls. Clinically, these findings suggest that it is important for clinicians do a thorough exploration of self-destructive behaviors and family and peer relations when assessing depressed adolescent girls. PMID:28747935

  10. Electrocardiography-inclusive screening strategies for detection of cardiovascular abnormalities in high school athletes. (United States)

    Price, David E; McWilliams, Andrew; Asif, Irfan M; Martin, Anthony; Elliott, Spencer D; Dulin, Michael; Drezner, Jonathan A


    The best protocol for cardiovascular preparticipation screening (PPS) in young athletes is uncertain. The purpose of this study was to determine the value of integrating electrocardiographic (ECG) testing with standard history and physical examination during PPS to identify potentially serious cardiovascular abnormalities in young athletes. A total of 2017 high school athletes seeking clearance for competitive sports were prospectively evaluated using a standardized history and physical examination, 12-lead ECG, and two-dimensional echocardiogram (echo). Primary outcome measures included the identification of cardiac disorders associated with sudden cardiac death. Secondary outcome measures included identification of abnormal, but nonlethal, cardiac conditions that required medical follow-up. Of these athletes, 14.7% had an abnormal history or physical examination and 3.1% had an abnormal ECG based on modern ECG interpretation criteria. Five primary outcomes (1 hypertrophic cardiomyopathy, 4 Wolff-Parkinson-White syndrome) and four secondary outcomes were identified. History and physical examination detected 40% of primary and 50% of secondary abnormalities. ECG detected all five primary abnormalities but none of the secondary abnormalities. Echo was abnormal in 1.2% and detected one primary and four secondary abnormalities. The false-positive rates for primary and secondary outcomes for history and physical examination and ECG were 14.5% and 2.8%, respectively. ECG adds value to PPS through increased detection of arrhythmogenic and structural cardiovascular conditions associated with sudden cardiac death. Use of modern ECG interpretation standards allows a low false-positive rate. Routine echo may detect other clinically important cardiac abnormalities, but its role in PPS remains uncertain. Copyright © 2014 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  11. Efficacy and safety of hepano tablet in liver disorder patients with abnormal liver function test: A randomized active controlled prospective clinical study

    Directory of Open Access Journals (Sweden)

    Satyendra Kumar


    Full Text Available Objective: Hepano Tablet is an Ayurvedic herbal formulation studied in pre-clinical models for safety and hepatoprotective efficacy. The current study was a randomized, active controlled, multicentre, prospective clinical study that aimed to evaluate hepatoprotective efficacy and safety of Hepano Tablets. Materials and Methods: Male and female liver diseases patients (18-65 years with abnormal liver function tests were randomized to receive two tablets twice daily orally of either Hepano or a marketed comparator for 8 weeks with follow up at day 7, 14, 28 & 56 during treatment period and thereafter at day 84. Results were assessed from baseline to end of treatment basis changes in liver function tests and improvement in clinical symptoms of icterus in both the groups. Safety was assessed at all the visits basis changes in laboratory parameters and adverse event reporting for all cases who took at least one dose of the study drug. Results: Hepano Tablet and marketed comparator showed significant improvement in Liver functions - Serum Aspartate transaminase (AST, Alanine transaminase (ALT and Total, Direct and Indirect Bilirubin Levels and a significant reduction in clinical symptoms of icterus that was comparable at all the visits. Conclusion: Hepano Tablets can significantly improve Liver Function Tests and clinical symptoms in liver disease patients and could be consumed safely.

  12. Clinical and Electrodiagnostic Abnormalities of the Median Nerve in US Army Dental Assistants at the Onset of Training (United States)


    extremity musculoskeletal dysfunction in Soldiers as they begin their didactic and clinical training program to become dental assistants. The job...Two subjects (8, 46) played musical instruments (guitar), and there is evidence to support that guitarists are susceptible to having median monon

  13. Optimal Management of Prostate Cancer Based on its Natural Clinical History. (United States)

    Facchini, Gaetano; Perri, Francesco; Misso, Gabriella; D Aniello, Carmine; Scarpati, Giuseppina Della Vittoria; Rossetti, Sabrina; Pepa, Chiara Della; Pisconti, Salvatore; Unteregger, Gerhard; Cossu, Alessia; Caraglia, Michele; Berretta, Massimiliano; Cavaliere, Carla


    Prostate cancer is the most common malignancy in males and, despite a marked improvement in diagnostic techniques, a not small percentage of prostate tumours is still diagnosed in advanced stage. It is now clear that prostate cancer passes through distinct phases during its natural history, starting from an initial phase, in which the disease has a locoregional extent, until a very late phase when it becomes refractory to hormone therapy. It is important to distinguish between local disease, in which tumor may be considered localized in the gland and a systemic disease characterized by high tumor burden and/or dissemination of circulating tumour cells. All the prostate cancers, at first diagnosis, are characterized by high sensitivity to the androgen deprivation therapy (ADT); however, during the natural history, after a variable period, they become castration resistant. In the past, few therapy options were available for castration resistant prostate cancer, while at present much more approaches can be employed, both hormone-based therapies and chemotherapy regimens. Hypercastration agents are defined as drugs capable to target the androgen-androgen receptor axis even in castrate resistant conditions. Abiraterone and enzalutamide are the only two hypercastration agents available for clinical use. Osteoclast targeted agents, such as zoledronic acid and denosumab can always been employed, but their use should be limited to the castrate resistant setting. The optimal understanding of all phases characterizing the natural history of prostate cancer may certainly be useful for the selection of the best therapeutic options in prostate cancer. Copyright© Bentham Science Publishers; For any queries, please email at

  14. Clinical and Polysomnographic Predictors of the Natural History of Poor Sleep in the General Population (United States)

    Fernandez-Mendoza, Julio; Vgontzas, Alexandros N.; Bixler, Edward O.; Singareddy, Ravi; Shaffer, Michele L.; Calhoun, Susan L.; Karataraki, Maria; Vela-Bueno, Antonio; Liao, Duanping


    Study Objectives: Approximately 8-10% of the general population suffers from chronic insomnia, whereas another 20-30% of the population has insomnia symptoms at any given time (i.e., poor sleep). However, few longitudinal studies have examined risk factors of the natural history of poor sleep, and none have examined the role of polysomnographic (PSG) variables. Design: Representative longitudinal study. Setting: Sleep laboratory. Participants: From a random, general population sample of 1,741 individuals of the adult Penn State Cohort, 1,395 were followed up after 7.5 yr. Measurements: Full medical evaluation and 1-night PSG at baseline and telephone interview at follow-up. Results: The rate of incident poor sleep was 18.4%. Physical (e.g., obesity, sleep apnea, and ulcer) and mental (e.g., depression) health conditions and behavioral factors (e.g., smoking and alcohol consumption) increased the odds of incident poor sleep as compared to normal sleep. The rates of persistent, remitted, and poor sleepers who developed chronic insomnia were 39%, 44%, and 17%, respectively. Risk factors for persistent poor sleep were physical health conditions combined with psychologic distress. Shorter objective sleep duration and a family history of sleep problems were risk factors for poor sleep evolving into chronic insomnia. Conclusions: Poor sleep appears to be primarily a symptom of physical and mental health conditions, whereas the persistence of poor sleep is associated with psychologic distress. Importantly, sleep apnea appears to be associated with incident poor sleep but not with chronic insomnia. Finally, this study suggests that objective short sleep duration in poor sleepers is a biologic marker of genetic predisposition to chronic insomnia. Citation: Fernandez-Mendoza J; Vgontzas AN; Bixler EO; Singareddy R; Shaffer ML; Calhoun SL; Karataraki M; Vela-Bueno A; Liao D. Clinical and polysomnographic predictors of the natural history of poor sleep in the general population

  15. Observable phenomena that reveal medical students' clinical reasoning ability during expert assessment of their history taking: a qualitative study. (United States)

    Haring, Catharina M; Cools, Bernadette M; van Gurp, Petra J M; van der Meer, Jos W M; Postma, Cornelis T


    During their clerkships, medical students are meant to expand their clinical reasoning skills during their patient encounters. Observation of these encounters could reveal important information on the students' clinical reasoning abilities, especially during history taking. A grounded theory approach was used to analyze what expert physicians apply as indicators in their assessment of medical students' diagnostic reasoning abilities during history taking. Twelve randomly selected clinical encounter recordings of students at the end of the internal medicine clerkships were observed by six expert assessors, who were prompted to formulate their assessment criteria in a think-aloud procedure. These formulations were then analyzed to identify the common denominators and leading principles. The main indicators of clinical reasoning ability were abstracted from students' observable acts during history taking in the encounter. These were: taking control, recognizing and responding to relevant information, specifying symptoms, asking specific questions that point to pathophysiological thinking, placing questions in a logical order, checking agreement with patients, summarizing and body language. In addition, patients' acts and the course, result and efficiency of the conversation were identified as indicators of clinical reasoning, whereas context, using self as a reference, and emotion/feelings were identified by the clinicians as variables in their assessment of clinical reasoning. In observing and assessing clinical reasoning during history taking by medical students, general and specific phenomena to be used as indicators for this process could be identified. These phenomena can be traced back to theories on the development and the process of clinical reasoning.

  16. Using the patient's medication history as a learning tool in clinical pharmacology instruction for dental students. (United States)

    Gregson, Karen S; Romito, Laura M


    The purpose of this study was to determine if a pharmacology medical history assignment would enable dental students to demonstrate improved knowledge and understanding of pharmacology by researching the drugs their patients were taking and recording pharmacological information in their patients' health records. The study followed a pretest-posttest design and evaluated students' knowledge of ten commonly prescribed drugs. Students were given the pretest prior to entry into the clinic. Subsequently, for an eight-month period, students completed the medication history assignment. Pretest and posttest scores were compared and analyzed with one-way ANOVA and Pearson product moment correlation statistics. The Pearson product moment correlation showed a positive correlation between the drugs per patient and the change in score between the pre- and posttests (correlation coefficient=0.254, p=0.016) and between the assignment grade and the change in pre- and posttest scores (correlation coefficient=0.198, ppharmacology knowledge base and enhance their potential to positively impact patient care and safety.

  17. Necessity of introducing postencounter note describing history and physical examination at clinical performance examination in Korea. (United States)

    Kim, Jonghoon


    Information gathering ability had been evaluated mainly via checklists in clinical performance examinations (CPX). But, it is not proved yet if students write the information correctly in postencounter note (PN), although they asked questions or performed physical examinations (PE) about the information when they interacted with standardized patients in CPX. This study addressed the necessity of introducing PN to evaluate the ability in CPX. After patient encounters, students were instructed to write the findings of history taking and physical examination that they considered as important information in approaching the patient's problems in PN. PNs were scored using answer keys selected from checklist items, which were considered to be recorded in PN by CPX experts. PNs of six CPX cases from 54 students were analyzed. Correlation coefficients between the key-checklist scores and PN scores of six cases were moderate to high (0.52 to 0.79). However, students frequently neglected some cardinal features of chief complains, pertinent findings of past/social history and PE, and pertinent negative findings of associated symptoms in PNs, which were checked as 'done' in the keys of checklists. It is necessary to introduce PN in CPX to evaluate the students' ability of synthesis and integration of patient information.

  18. Clinical analysis of esophageal cancer patients with a history of metachronous primary cancer. (United States)

    Kudou, Michihiro; Shiozaki, Atsushi; Fujiwara, Hitoshi; Kosuga, Toshiyuki; Konishi, Hirotaka; Morimura, Ryo; Murayama, Yasutoshi; Komatsu, Shuhei; Kuriu, Yoshiaki; Ikoma, Hisashi; Nakanishi, Masayoshi; Ichikawa, Daisuke; Okamoto, Kazuma; Sakakura, Chouhei; Otsuji, Eigo


    Esophageal cancer (EC) is often associated with multiple primary cancers, and the frequency of EC in patients with a history of metachronous primary cancers (HMPC) was reported as 7.8%. The clinical characteristics of these cases have not yet been elucidated in detail. Therefore, we analyzed 36 EC patients with HMPC among 370 cases that underwent curative resection in our hospital between 1996 and 2013. The most frequent HMPC was gastric cancer (36.1%). The group with HMPC was significantly older than the group without HMPC, whereas no significant differences were observed in other background factors. The stomach was used for reconstruction more frequently reconstructed in the group without HMPC (pHMPC were similar to those of EC patients without HMPC; therefore, curative surgery should be considered for EC patients with HMPC.

  19. The use of psychometrists in clinical neuropsychology: history, current status, and future directions. (United States)

    Malek-Ahmadi, Michael; Erickson, Tom; Puente, Antonio E; Pliskin, Neil; Rock, Rachel


    In recent years, the National Academy of Neuropsychology and other professional neuropsychological organizations have published a number of articles and position papers regarding the use, education, and training of psychometrists ("technicians"). Although these documents provide guidelines for the suggested qualifications and training procedures of psychometrists, none make any mention of the need for a standardized credentialing process, which is commonly required of technicians in similar fields, especially in medical settings. Given the recent changes in current procedural Terminology codes used to bill for neuropsychological services and the interpretation of legislation disallowing the use of psychometrists in New York, the need for a standard credential for psychometrists is apparent. This article will review the history and current use of psychometrists in clinical neuropsychology and highlight the need and rationale for the credentialing of psychometrists.

  20. "Addicted to Euphoria": The History, Clinical Presentation, and Management of Party Drug Misuse. (United States)

    Bearn, Jenny; O'Brien, Matthew


    Eating, drinking, sexual activity, and parenting invoke pleasure, an emotion that promotes repetition of these behaviors, are essential for survival. Euphoria, a feeling or state of intense excitement and happiness, is an amplification of pleasure, aspired to one's essential biological needs that are satisfied. People use party drugs as a shortcut to euphoria. Ecstasy (3,4-methylenedioxymethamphetamine), γ-hydroxybutyric acid, and ketamine fall under the umbrella of the term "party drugs," each with differing neuropharmacological and physiological actions. This chapter seeks to survey the history and epidemiology of party drug use; we will then discuss the pharmacological characteristics of each drug to provide a platform for understanding the difficulties that party drug users encounter through intoxication, harmful use, dependence, and withdrawal and how these should be clinically managed. © 2015 Elsevier Inc. All rights reserved.

  1. Radiology clinical synopsis: a simple solution for obtaining an adequate clinical history for the accurate reporting of imaging studies on patients in intensive care units

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    Cohen, Mervyn D. [Riley Hospital for Children, Indianapolis, IN (United States); Alam, Khurshaid [Indiana University, School of Medicine, Indianapolis, IN (United States)


    Lack of clinical history on radiology requisitions is a universal problem. We describe a simple Web-based system that readily provides radiology-relevant clinical history to the radiologist reading radiographs of intensive care unit (ICU) patients. Along with the relevant history, which includes primary and secondary diagnoses, disease progression and complications, the system provides the patient's name, record number and hospital location. This information is immediately available to reporting radiologists. New clinical information is immediately entered on-line by the radiologists as they are reviewing images. After patient discharge, the data are stored and immediately available if the patient is readmitted. The system has been in routine clinical use in our hospital for nearly 2 years. (orig.)

  2. Defining SOD1 ALS natural history to guide therapeutic clinical trial design. (United States)

    Bali, Taha; Self, Wade; Liu, Jingxia; Siddique, Teepu; Wang, Leo H; Bird, Thomas D; Ratti, Elena; Atassi, Nazem; Boylan, Kevin B; Glass, Jonathan D; Maragakis, Nicholas J; Caress, James B; McCluskey, Leo F; Appel, Stanley H; Wymer, James P; Gibson, Summer; Zinman, Lorne; Mozaffar, Tahseen; Callaghan, Brian; McVey, April L; Jockel-Balsarotti, Jennifer; Allred, Peggy; Fisher, Elena R; Lopate, Glenn; Pestronk, Alan; Cudkowicz, Merit E; Miller, Timothy M


    Understanding the natural history of familial amyotrophic lateral sclerosis (ALS) caused by SOD1 mutations (ALS(SOD1)) will provide key information for optimising clinical trials in this patient population. To establish an updated natural history of ALS(SOD1). Retrospective cohort study from 15 medical centres in North America evaluated records from 175 patients with ALS with genetically confirmed SOD1 mutations, cared for after the year 2000. Age of onset, survival, ALS Functional Rating Scale (ALS-FRS) scores and respiratory function were analysed. Patients with the A4V (Ala-Val) SOD1 mutation (SOD1(A4V)), the largest mutation population in North America with an aggressive disease progression, were distinguished from other SOD1 mutation patients (SOD1(non-A4V)) for analysis. Mean age of disease onset was 49.7±12.3 years (mean±SD) for all SOD1 patients, with no statistical significance between SOD1(A4V) and SOD1(non-A4V) (p=0.72, Kruskal-Wallis). Total SOD1 patient median survival was 2.7 years. Mean disease duration for all SOD1 was 4.6±6.0 and 1.4±0.7 years for SOD1(A4V). SOD1(A4V) survival probability (median survival 1.2 years) was significantly decreased compared with SOD1(non-A4V) (median survival 6.8 years; pALS-FRS decline in SOD1(A4V) compared with SOD1(non-A4V) participants (p=0.02) was observed, as well as a statistically significant increase in ALS-forced vital capacity decline in SOD1(A4V) compared with SOD1(non-A4V) (p=0.02). SOD1(A4V) is an aggressive, but relatively homogeneous form of ALS. These SOD1-specific ALS natural history data will be important for the design and implementation of clinical trials in the ALS(SOD1) patient population. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to

  3. A review on the clinical spectrum and natural history of human influenza. (United States)

    Punpanich, Warunee; Chotpitayasunondh, Tawee


    The objective of this review is to provide updated information on the clinical spectrum and natural history of human influenza, including risk factors for severe disease, and to identify the knowledge gap in this area. We searched the MEDLINE database of the recent literature for the period January 2009 to August 17, 2011 with regard to the abovementioned aspects of human influenza, focusing on A(H1N1)pdm09 and seasonal influenza. The clinical spectrum and outcomes of cases of A(H1N1)pdm09 influenza have been mild and rather indistinguishable from those of seasonal influenza. Sporadic cases covering a wide range of neurological complications have been reported. Underlying predisposing conditions considered to be high-risk for A(H1N1)pdm09 infections are generally similar to those of seasonal influenza, but with two additional risk groups: pregnant women and the morbidly obese. Co-infections with bacteria and D222/N variants or 225G substitution of the viral genome have also been reported to be significant factors associated with the severity of disease. The current knowledge gap includes: (1) a lack of clarification regarding the relatively greater severity of the Mexican A(H1N1)pdm09 influenza outbreak in the early phase of the pandemic; (2) insufficient data on the clinical impact, risk factors, and outcomes of human infections caused by resistant strains of influenza; and (3) insufficient data from less developed countries that would enable them to prioritize strategies for influenza prevention and control. Clinical features and risk factors of A(H1N1)pdm09 are comparable to those of seasonal influenza. Emerging risk factors for severe disease with A(H1N1)pdm09 include morbid obesity, pregnancy, bacterial co-infections, and D222/N variants or 225G substitution of the viral genome. Copyright © 2012 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  4. Theory of Mind and social functioning in schizophrenia: correlation with figurative language abnormalities, clinical symptoms and general intelligence. (United States)

    Piovan, Cristiano; Gava, Laura; Campeol, Mara


    Over past few decades, studies displayed Theory of Mind (ToM) as a system, including cognitive and affective features, rather than an unitary process. Within domains defining social cognition, ToM stands for the best predictor of poor social functioning in schizophrenia. The current study aimed to explore competence in ToM tasks, in metaphorical and idiomatic language identification tasks and in a conversational rules observance test, as well as relationship with social functioning, in a group of outpatients suffering from schizophrenia. METHODS.: 30 outpatients diagnosed with schizophrenia and 24 healthy subjects have been recruited. Both groups underwent TIB as premorbid IQ evaluation, PANSS, Theory of Mind Picture Sequencing Task, a metaphors and idiomatic expressions comprehension test and a conversational test. Social functioning was assessed with PSP. Results.Mean values of premorbid IQ showed no significant difference between patients and control group. In ToM and pragmatic competence tasks, differences between groups resulted in high significance, due to patients' lower performance. A correlation between metaphors and idiomatic expressions comprehension and second order false beliefs was detected. PSP showed a correlation with PANSS and cognitive-ToM, whereas leaving aside affective-ToM. Results showed how people affected with schizophrenia, in stable clinical condition, do have clear impairments in ToM and figurative language comprehension assignments. In our theoretical framework, correlation arisen between cognitive-ToM, pragmatic deficits, clinical status and social functioning level suggests usefulness of rehabilitative interventions to recover metacognitive functions and pragmatic abilities, in order to reduce social disability in schizophrenia.

  5. Correlation between urodynamic tests, history and clinical findings in treatment of women with urinary incontinence

    Directory of Open Access Journals (Sweden)

    João Bosco Ramos Borges


    Full Text Available Objective: The aim of this study was to evaluate the role of urodynamic test in diagnosis of urinary incontinence, comparing detailed data of history and physical examination, and some easy-to-apply clinical tests. Methods: A cross-sectional retrospective study was carried out by reviewing the medical charts of 55 patients with complaint of loss of urine, seen at the Urogynecology Service of Women’s Health Outpatient Clinic of Hospital Universitário de Jundiaí, between October 2006 and March 2007. The patients answered a specific questionnaire involving the epidemiological and physical examination variables considered in this study. They were submitted to physical examination and urodynamic tests. Results: The complaint of loss of urine upon exertion, either isolated or associated with urge incontinence, was confirmed by urodynamic tests in most women, and only 4 of 49 symptomatic women had negative results. The clinical sign was present in 35 patients (63.6%, and 46 patients (83.6% had the exertion component in the urodynamic test. The exertion component was observed in 10 (18% out of 15 patients without symptoms (30%. The positive and negative predictive values of the clinical sign for diagnosis of any type of urinary incontinence in this studied group were 97.1 and 26.7%, respectively. As for the clinical complaint of urinary loss upon exertion, the positive and negative predictive values for any type of urinary incontinence were 92 and 40%, respectively. For the clinical complaint of urge incontinence, the positive and negative predictive values of 92.5 and 23.1%, respectively. Conclusions: It was concluded that the urodynamic evaluation is an important instrument to evaluate the severity of incontinence, although it was not necessary to diagnose loss of urine. The finding of urinary loss during physical examination had low sensitivity and specificity in diagnosis of the type of loss of urine. Urodynamic tests had better performance in

  6. From Appearance of Adrenal Autoantibodies to Clinical Symptoms of Addison's Disease: Natural History. (United States)

    Betterle, Corrado; Garelli, Silvia; Presotto, Fabio; Furmaniak, Jadwiga


    Recent progress in the immunopathology field has greatly improved our understanding of the natural history of autoimmune diseases, particularly of Addison's disease. Addison's disease is known to be a chronic illness characterized by adrenocortical gland insufficiency that develops following a long and mainly asymptomatic period, characterized by the presence of circulating autoantibodies directed to adrenal cortex antigens. In this chapter we describe the groups of subjects at risk of developing Addison's disease, together with the diagnostic tests considered the most appropriate for evaluating adrenal function: determination of basal plasma adrenocorticotropic hormone (ACTH) levels, plasma renin activity, plasma aldosterone and cortisol levels, and cortisol levels after intravenous stimulation with ACTH (ACTH test). The employment of specific clinical, immunological and functional criteria in the subjects with autoantibodies to the adrenal cortex allows identifying those at risk of developing overt disease. The independent risk factors for the progression to adrenal failure have also been identified and they contribute to different risks of developing clinical Addison's disease. Based on the risk level, the subjects should be monitored over time to observe early signs of adrenal dysfunction, and start substitutive treatment as soon as possible. For patients presenting with high risk, prevention strategies and trials might be available. © 2016 S. Karger AG, Basel.

  7. Prostate specific antigen only androgen independent prostate cancer: natural history, challenges in management and clinical trial design. (United States)

    Ryan, Charles J; Beer, Tomasz M


    There is no current standard of care for patients with nonmetastatic androgen independent prostate cancer, a condition defined by increasing serum prostate specific antigen despite anorchid testosterone levels and no radiographic evidence of metastases. A consensus panel was convened to review data and propose a strategy for trial design and prioritization. Published literature on the natural history of nonmetastatic androgen independent prostate cancer was reviewed. A panel discussion was held, focusing on reviewing current and past trials, and the development of research priorities for patients in this disease state. Based on 1 report the natural history of nonmetastatic androgen independent prostate cancer is relatively long but heterogeneous. External validation of these published findings has not been performed. Clinical trial design in this setting is impeded by heterogeneity and lack of knowledge about the natural history, prolonged time to clinical end points, such as the development of metastases or death, and a lack of knowledge about how intermediate end points, eg the development of bone metastases, are related to the long-term outcome, eg survival. In clinical practice a reluctance to use therapies with substantial toxicity as well as a lack of outcome data on such patients leaves a vacuum in which there is no standard of care, although secondary hormonal manipulations are widely used. Further research is needed to define the natural history of this disease state, educate patients and clinicians about its distinct natural history and develop informative clinical trial designs suited to this patient population.

  8. Familial history of diabetes and clinical characteristics in Greek subjects with type 2 diabetes

    Directory of Open Access Journals (Sweden)

    Apostolou Ourania


    Full Text Available Abstract Background A lot of studies have showed an excess maternal transmission of type 2 diabetes (T2D. The aim, therefore, of the present study was to estimate the prevalence of familial history of T2D in Greek patients, and to evaluate its potential effect on the patient's metabolic control and the presence of diabetic complications. Methods A total of 1,473 T2D patients were recruited. Those with diabetic mothers, diabetic fathers, diabetic relatives other than parents and no known diabetic relatives, were considered separately. Results The prevalence of diabetes in the mother, the father and relatives other than parents, was 27.7, 11.0 and 10.7%, respectively. Patients with paternal diabetes had a higher prevalence of hypertension (64.8 vs. 57.1%, P = 0.05 and lower LDL-cholesterol levels (115.12 ± 39.76 vs. 127.13 ± 46.53 mg/dl, P = 0.006 than patients with diabetes in the mother. Patients with familial diabetes were significantly younger (P 2, P = 0.08, higher prevalence of dyslipidemia (49.8 vs. 44.6%, P = 0.06 and retinopathy (17.9 vs. 14.5%, P = 0.08 compared with patients with no diabetic relatives. No difference in the degree of metabolic control and the prevalence of chronic complications were observed. Conclusion The present study showed an excess maternal transmission of T2D in a sample of Greek diabetic patients. However, no different influence was found between maternal and paternal diabetes on the clinical characteristics of diabetic patients except for LDL-cholesterol levels and presence of hypertension. The presence of a family history of diabetes resulted to an early onset of the disease to the offspring.

  9. Clinical abnormalities, early intervention program of Down syndrome children: Queen Sirikit National Institute of Child Health experience. (United States)

    Fuengfoo, Adidsuda; Sakulnoom, Kim


    Queen Sirikit National Institute of Child Health is a tertiary institute of children in Thailand, where early intervention programs have been provided since 1990 by multidisciplinary approach especially in Down syndrome children. This aim of the present study is to follow the impact of early intervention on the outcome of Down syndrome children. The school attendance number of Down syndrome children was compared between regular early intervention and non-regular early intervention. The present study group consists of 210 Down syndrome children who attended early intervention programs at Queen Sirikit National Institute of Child Health between June 2008 and January 2012. Data include clinical features, school attendance developmental quotient (DQ) at 3 years of age using Capute Scales Cognitive Adaptive Test/Scale (CAT/CLAMS). Developmental milestones have been recorded as to the time of appearance of gross motor, fine motor, language, personal-social development compared to those non-regular intervention patients. Of 210 Down syndrome children, 117 were boys and 93 were girls. About 87% received regular intervention, 68% attended speech training. Mean DQ at 3 years of age was 65. Of the 184 children who still did follow-up at developmental department, 124 children (59%) attended school: mainstream school children 78 (63%) and special school children 46 (37%). The mean age at entrance to school was 5.8 ± 1.4 years. The school attendance was correlated with maternal education and regular early intervention attendance. Regular early intervention starts have proven to have a positive effect on development. The school attendance number of Down syndrome children receiving regular early intervention was statistically and significantly higher than the number of Down syndrome children receiving non-regular early intervention was. School attendance correlated with maternal education and attended regularly early intervention. Regular early intervention together with maternal

  10. A phase II clinical study to assess the feasibility of self and partner anal examinations to detect anal canal abnormalities including anal cancer. (United States)

    Nyitray, Alan G; Hicks, Joseph T; Hwang, Lu-Yu; Baraniuk, Sarah; White, Margaret; Millas, Stefanos; Onwuka, Nkechi; Zhang, Xiaotao; Brown, Eric L; Ross, Michael W; Chiao, Elizabeth Y


    Anal cancer is a common cancer among men who have sex with men (MSM); however, there is no standard screening protocol for anal cancer. We conducted a phase II clinical trial to assess the feasibility of teaching MSM to recognise palpable masses in the anal canal which is a common sign of anal cancer in men. A clinician skilled in performing digital anorectal examinations (DARE) used a pelvic manikin to train 200 MSM, aged 27-78 years, how to do a self-anal examination (SAE) for singles or a partner anal examination (PAE) for couples. The clinician then performed a DARE without immediately disclosing results, after which the man or couple performed an SAE or PAE, respectively. Percentage agreement with the clinician DARE in addition to sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated for the SAE, PAE and overall. Men had a median age of 52 years, 42.5% were African American and 60.5% were HIV positive. DARE detected abnormalities in 12 men while the men's SAE/PAEs detected 9 of these. A total of 93.0% of men classified the health of their anal canal correctly (95% CI 89.5 to 96.5). Overall percentage agreement, sensitivity and specificity were 93.0%, 75.0% and 94.2%, respectively, while PPV and NPV were 45.0% and 98.3%, respectively. The six men who detected the abnormality had nodules/masses ≥3 mm in size. More than half of men (60.5%) reported never checking their anus for an abnormality; however, after performing an SAE/PAE, 93.0% said they would repeat it in the future. These results suggest that tumours of ≥3 mm may be detectable by self or partner palpation among MSM and encourage further investigation given literature suggesting a high cure rate for anal cancer tumours ≤10 mm. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  11. The influence of Multiwave Locked System (MLS) laser therapy on clinical features, microcirculatory abnormalities and selected modulators of angiogenesis in patients with Raynaud's phenomenon. (United States)

    Kuryliszyn-Moskal, Anna; Kita, Jacek; Dakowicz, Agnieszka; Chwieśko-Minarowska, Sylwia; Moskal, Diana; Kosztyła-Hojna, Bożena; Jabłońska, Ewa; Klimiuk, Piotr Adrian


    The aim of this study was to investigate the influence of the Multiwave Locked System (MLS) laser therapy on clinical features, microvascular changes in nailfold videocapillaroscopy (NVC) and circulating modulators releasing as a consequence of vascular endothelium injury such as vascular endothelial growth factor (VEGF) and angiopoietin 2 (Ang-2) in patients with primary and secondary Raynaud's phenomenon. Seventy-eight RP patients and 30 healthy volunteers were recruited into the study. All patients with RP received MLS laser irradiation for 3 weeks. Clinical, NVC and laboratory investigations were performed before and after the MLS laser therapy. The serum concentration of VEGF and Ang-2 were determined by an enzyme-linked immunosorbent assay (ELISA). After 3 weeks of MLS laser therapy, the clinical improvement manifested by decreasing of the number of RP attacks, mean duration of Raynaud's attack and pain intensity in RP patients was observed. After MLS laser therapy in 65% of patients with primary and in 35% with secondary RP, an increase in the loop number and/or a reduction in avascular areas in NVC were observed. In comparison with a control group, higher serum concentration of VEGF and Ang-2 in RP patients was demonstrated. After MLS laser therapy, a reduction of Ang-2 in both groups of RP patients was found. Our results suggest that NVC may reflect microvascular changes associated with clinical improvement after MLS laser therapy in patients with primary and secondary RP. Ang-2 serum levels may be a useful marker of microvascular abnormalities in RP patients treated with MLS laser therapy.

  12. Time to clinical investigation for Indigenous and non-Indigenous Queensland women after a high grade abnormal Pap smear, 2000-2009. (United States)

    Whop, Lisa J; Baade, Peter D; Brotherton, Julia Ml; Canfell, Karen; Cunningham, Joan; Gertig, Dorota; Lokuge, Kamalini; Garvey, Gail; Moore, Suzanne P; Diaz, Abbey; O'Connell, Dianne L; Valery, Patricia; Roder, David M; Condon, John R


    To investigate time to follow-up (clinical investigation) for Indigenous and non-Indigenous women in Queensland after a high grade abnormality (HGA) being detected by Pap smear. Population-based retrospective cohort analysis of linked data from the Queensland Pap Smear Register (PSR), the Queensland Hospital Admitted Patient Data Collection, and the Queensland Cancer Registry. 34 980 women aged 20-68 years (including 1592 Indigenous women) with their first HGA Pap smear result recorded on the PSR (index smear) during 2000-2009 were included and followed to the end of 2010. Time from the index smear to clinical investigation (histology test or cancer diagnosis date), censored at 12 months. The proportion of women who had a clinical investigation within 2 months of a HGA finding was lower for Indigenous (34.1%; 95% CI, 31.8-36.4%) than for non-Indigenous women (46.5%; 95% CI, 46.0-47.0%; unadjusted incidence rate ratio [IRR], 0.65; 95% CI, 0.60-0.71). This difference remained after adjusting for place of residence, area-level disadvantage, and age group (adjusted IRR, 0.74; 95% CI, 0.68-0.81). However, Indigenous women who had not been followed up within 2 months were subsequently more likely to have a clinical investigation than non-Indigenous women (adjusted IRR for 2-4 month interval, 1.21; 95% CI, 1.08-1.36); by 6 months, a similar proportion of Indigenous (62.2%; 95% CI, 59.8-64.6%) and non-Indigenous women (62.8%; 95% CI, 62.2-63.3%) had been followed up. Prompt follow-up after a HGA Pap smear finding needs to improve for Indigenous women. Nevertheless, slow follow-up is a smaller contributor to their higher cervical cancer incidence and mortality than their lower participation in cervical screening.

  13. The long-term clinical implications of clonal chromosomal abnormalities in newly diagnosed chronic phase chronic myeloid leukemia patients treated with imatinib mesylate. (United States)

    Lee, Sung-Eun; Choi, Soo Young; Bang, Ju-Hee; Kim, Soo-Hyun; Jang, Eun-Jung; Byeun, Ji-Young; Park, Jin Eok; Jeon, Hye-Rim; Oh, Yun Jeong; Kim, Myungshin; Kim, Dong-Wook


    The aim of this study was to evaluate the long-term clinical significance of an additional chromosomal abnormality (ACA), variant Philadelphia chromosome (vPh) at diagnosis, and newly developed other chromosomal abnormalities (OCA) in patients with chronic myeloid leukemia (CML) on imatinib (IM) therapy. Sequential cytogenetic data from 281 consecutive new chronic phase CML patients were analyzed. With a median follow-up of 78.6 months, the 22 patients with vPh (P = 0.034) or ACA (P = 0.034) at diagnosis had more events of IM failure than did the patients with a standard Ph. The 5-year overall survival (OS), event-free survival (EFS), and failure-free survival (FFS) rates for patients with vPh at diagnosis were 77.8%, 75.0%, and 53.3%, respectively; for patients with ACA at diagnosis, 100%, 66.3%, and 52.1%, respectively; and for patients with a standard Ph, 96.0%, 91.3%, and 83.7%, respectively. During IM therapy, eight patients developed an OCA, which had no impact on outcomes as a time-dependent covariate in our Cox proportional hazards regression models. This study showed that vPh was associated with poor OS and FFS and that ACA had adverse effects on EFS and FFS. In addition, no OCA, except monosomy 7, had any prognostic impact, suggesting that the development of OCA may not require a change in treatment strategy. Copyright © 2012 Elsevier Inc. All rights reserved.

  14. Clinical and sociodemographic factors associated with colon surveillance among patients with a history of colorectal cancer. (United States)

    Rulyak, Stephen J; Mandelson, Margaret T; Brentnall, Teresa A; Rutter, Carolyn M; Wagner, Edward H


    Substantial variability in the use of colon surveillance among colorectal cancer survivors has been reported. This study sought to examine trends in the use of colon surveillance among patients who have had colorectal cancer and to investigate factors associated with utilization. Health maintenance organization enrollees with a diagnosis of local or regional colon or rectal cancer between January 1993 and December 1999 were studied. Receipt of a colon examination by colonoscopy or by flexible sigmoidoscopy, together with barium contrast radiography of the colon was determined from automated clinical records, and rates of colon surveillance were estimated by using survival analysis. A total of 1002 patients with a diagnosis of colorectal cancer met inclusion criteria for the study. Colon examinations were performed in 61% of patients within 18 months of diagnosis and in 80% of patients within 5 years of diagnosis. The median time from diagnosis to first colon surveillance examination (14 months) was unchanged over the study period, but the interval between first and second surveillance examinations increased by 17 months (pcancer (relative risk=0.80; 95% CI[0.66, 0.97]) were less likely to undergo surveillance. Higher socioeconomic status (relative risk=1.29; 95% CI[1.03, 1.61]) and being married (relative risk=1.27; 95% CI[1.05, 1.53]) were associated with greater utilization. There was lower utilization among African American patients (relative risk=0.70; p=0.14) and increased utilization among other minorities (relative risk=1.47; p=0.06). There is substantial variability in the use of colon examination for surveillance in patients with a history of colorectal cancer, and clinical and sociodemographic factors appear to influence the likelihood of surveillance.

  15. Publishing history does not correlate with clinical performance among internal medicine residents. (United States)

    Cavalcanti, Rodrigo B; Detsky, Allan S


    OBJECTIVES Selection criteria for applicants to the internal medicine programme at the University of Toronto have included the number and quality of scholarly items published. We sought to determine whether previous publishing record correlated with resident performance as measured by in-training evaluation reports (ITERs) and global impressions of clinical competency by site programme directors and senior educators (global impression). METHODS Data on the total number, quality and type of items published, as well as the timing of publishing with regard to pre-MD training, were abstracted from the curricula vitae of individuals who applied for residency during 2001-2005. These were correlated with overall, Expert and Scholar role ITER scores, and with global impression, using Spearman rank correlation scores. RESULTS We gathered publishing history data on 181 residents, for 162 of whom ITER data were available. Overall, 68.5% of residents had published, but only 14.9% had published during medical school. There was a weak correlation of borderline significance (rho = 0.15, P = 0.055) between overall ITER score and number of items published. No such correlation was found with CanMEDS Medical Expert and Scholar role scores. Global impression classified 33.9% of residents as top-rated. More top-rated residents had published (76.7% versus 65.1%; P = 0.07), but the number of items published during medical school were similar between top-rated and non-top-rated residents (16.1% versus 12.3%; P = 0.46). CONCLUSIONS Our results do not support publishing record as a predictor of residents' clinical performance. Surprisingly, the correlation between publishing record and Scholar role scores was also weak, possibly indicating an inability of the ITER to capture this competency. Further research is needed to identify predictors and measures of performance in scholarly activities.

  16. Laboratory hematology in the history of Clinical Chemistry and Laboratory Medicine. (United States)

    Hoffmann, Johannes J M L


    For the occasion of the 50th anniversary of the journal Clinical Chemistry and Laboratory Medicine (CCLM), an historic overview of papers that the journal has published in the field of laboratory hematology (LH) is presented. All past volumes of CCLM were screened for papers on LH and these were categorized. Bibliographic data of these papers were also analyzed. CCLM published in total 387 LH papers. The absolute number of LH papers published annually showed a significant increase over the years since 1985. Also the share of LH papers demonstrated a steady increase (overall mean 5%, but mean 8% over the past 4 years). The most frequent category was coagulation and fibrinolysis (23.5%). Authors from Germany contributed the most LH papers to the journal (22.7%), followed by the Netherlands and Italy (16.3 and 13.2%, respectively). Recent citation data indicated that other publications cited LH review papers much more frequently than other types of papers. The history of the journal reflects the emergence and development of laboratory hematology as a separate discipline of laboratory medicine.

  17. Clinical utility of subtyping binge eating disorder by history of anorexia or bulimia nervosa in a treatment sample. (United States)

    Utzinger, Linsey M; Mitchell, James E; Cao, Li; Crosby, Ross D; Crow, Scott J; Wonderlich, Stephen A; Peterson, Carol B


    This study examined whether having a history of anorexia nervosa (AN) or bulimia nervosa (BN) is associated with response to treatment in adults with binge eating disorder (BED). Data from 189 adults diagnosed with BED who were randomly assigned to one of three group cognitive-behavioral (CBT) treatments were analyzed to compare those with and without a history of AN/BN. A total of 16% of the sample had a history of AN/BN. The BED subgroup with a history of AN/BN presented with higher rates of mood disorders and greater eating-related symptom severity at baseline. Participants with a history of AN/BN also had higher global eating disorder (ED) symptoms at end of treatment (EOT), and more frequent objective binge-eating episodes at EOT and 12-month follow-up. These findings suggest that in adults with BED, a history of AN/BN is predictive of greater eating-related symptom severity following group-based CBT and poorer short- and long-term binge-eating outcomes. These findings suggest that considering ED history in the treatment of adults with BED may be clinically useful. © 2015 Wiley Periodicals, Inc.

  18. [Amyoplasia congenita: a serious congenital abnormality with a relatively favorable prognosis

    NARCIS (Netherlands)

    Petru, R.; Verrips, A.; Ravenswaaij-Arts, C.M.A. van


    After an uneventful pregnancy a girl was born with serious joint contractures and several fractures of the long bones. The family history was negative for congenital abnormalities. Based on the distinct clinical presentation the diagnosis was 'amyoplasia', which is a partial aplasia of skeletal

  19. Antibiotic Allergies – Is De-labeling Based on Clinical History Feasible? (United States)

    Torda, Adrienne; Chan, Victor


    Abstract Background Up to 25% of patients admitted to hospital have an antibiotic allergy label (AAL), most of which are towards penicillin. However, up to 90% of patients who claim to be allergic to penicillin are actually able to tolerate them1. Whilst skin testing is safe and efficacious in de-labeling patients with a penicillin allergy label, it is usually not widely available. Therefore, we investigated the feasibility of de-labeling based solely upon clinical grounds. Quality of allergy documentation and subsequent antibiotic use was also assessed. Methods This was a cross-sectional study assessing all patients admitted to a tertiary referral teaching hospital over a 5-month period in 2016. All newly admitted patients were prospectively screened for the presence of an antibiotic allergy documented in their electronic medical record. Unless unable to participate, patients were interviewed regarding the detailed nature of their antibiotic allergy. Information regarding allergy documentation, medical condition and antibiotic use was obtained from medical records. Results 3855 patients were screened, 553 (14.35%) had an AAL, and 352 were interviewed. There were 426 allergies, 276 (64.8%) towards a penicillin. Only 52% of patients had a convincing history consistent with antibiotic allergy, and 48% of these were mild cutaneous reactions. It was felt that de-labeling and direct re-challenge would be relatively safe in 70% (298/42) of AALs (if the mild cutaneous allergic group were included). In patients who were prescribed antibiotics during study admission, 25.6% (41/160) of antibiotic prescriptions in our cohort were found to be inappropriate in patients with AALs. Conclusion Direct re-challenge based upon clinical grounds appears to be a feasible clinical option in many patients with AALs and would allow de-labeling of these patients. The major barriers continue to be patient acceptance and risk of severe adverse reactions. Our study also found that major

  20. [Surgical History Taking and Clinical Examination: Establishing a Standardised System by Means of a Nation-Wide Academic Teaching Project]. (United States)

    von Bernstorff, W; Irmer, H; Menges, P; Peters, S; Heidecke, C-D; Busemann, A


    Background: History taking and systematic clinical examination are central techniques of physicians. Medicine in general and surgery in particular frequently require immediate decisions and start of therapies. So far, a standardised surgical system for history taking and clinical examination in teaching has been lacking at our faculty. A consensus of all medical faculties on a standardised system could be a tool to improve the medical teaching and education at our teaching institutions. Methods: The established Anglo-Saxonian system of history taking and clinical examination was adapted to our own clinical needs. Thereafter, this system was sent out to all chairmen of general and visceral surgery departments in German University Hospitals asking for evaluation and improvements. We adapted the system according to the chairmen's comments and suggestions. Since winter semester 2011 this system has been integrated into the clinical course of history taking and examination. It is compulsory for all 5th semester students (first clinical year/graduate course) at the Universitätsmedizin Greifswald. In addition, a video was produced demonstrating all major techniques of clinical examination. This video is available for all students on a password blocked site of the World Wide Web. Results: Altogether, 89 % of all contacted chairmen returned their comments and suggestions for improvements. After implementation of the new system, positive evaluations of students increased significantly from 63.5 to 77.0 % in general and abdominal surgery (p history taking and clinical examination applicable for students as well as qualified surgeons in daily routine work. It has been approved by the majority of the departments of surgery of all German university hospitals. Furthermore, it can be applied by other medical specialties, in particular, internal medicine. Furthermore, the standardisation of history taking and clinical examination can contribute to improve patients' safety as

  1. Relationship among sera lipoprotein abnormalities in healthy ...

    African Journals Online (AJOL)

    As the prevalence of lipoprotein abnormalities in adolescents is increasing dramatically, the identification of relevant risk factors is a major public health challenge. The aim of this study was to investigate whether a family history of diabetes could be a risk factor for lipid abnormalities in healthy individuals. This study is a ...

  2. Relationship among sera lipoprotein abnormalities in healthy ...

    African Journals Online (AJOL)



    Aug 29, 2011 ... As the prevalence of lipoprotein abnormalities in adolescents is increasing dramatically, the identification of relevant ... investigate whether a family history of diabetes could be a risk factor for lipid abnormalities in healthy individuals. This study is a ..... thickness in children with type 1 diabetes. Diabetes, 51: ...

  3. Signs and symptoms of developmental abnormalities of the genitourinary tract

    Directory of Open Access Journals (Sweden)

    Paulo Cesar Koch Nogueira


    Full Text Available Abstract Objective: The abnormalities of the genitourinary tract development are the leading cause of chronic kidney disease (CKD in children. The diagnosis of this disease in Brazil is late and incomplete, which results in increased morbidity and mortality in this age group. Early diagnosis of this condition is the prerogative of generalist pediatricians, and the aim of this study was to review the clinical signs and symptoms associated with developmental abnormalities of the genitourinary tract. Data sources: Based on the description of a symbolic clinical case, the authors conducted a non-systematic review of medical literature. Data synthesis: The results suggest that the following data should be used as a warning for early diagnosis of affected children: (a combined urinary tract abnormalities (chromosomal abnormalities; sequence of malformations [VACTERLand Prune-Belly]; and musculoskeletal, digestive tract, heart, and nervous system malformations; (b previous history (congenital anomalies of the kidney and urinary tract [CAKUT] in the family, low birth weight, and oligoamnios; (c clinical signs (polyuria/nocturia, urinary tract infection, systemic arterial hypertension, failure to thrive, weak urinary stream, difficulty to start urination, distended bladder, non-monosymptomatic enuresis, urinary/urge incontinence, and bowel and bladder dysfunction; and (d pre- and postnatal ultrasonographic alterations (increased anteroposterior diameter of the renal pelvis, mainly in the third trimester of pregnancy; single kidney; hydronephrosis associated with other abnormalities; and hydronephrosis with parenchymal involvement in the post-neonatal assessment. Conclusion: The suggestions shown here can help the pediatrician to establish clinical hypotheses for the early diagnosis of developmental abnormalities of the genitourinary tract without resorting to expensive and invasive procedures.

  4. Linguistic and clinical validation of the Arabic-translated Aberdeen Menorrhagia Severity Scale as an indicator of quality of life for women with abnormal uterine bleeding. (United States)

    Abu-Rafea, Basim F; Vilos, George A; Al Jasser, Rakia S; Al Anazy, Reem M; Javaid, Khalida; Al-Mandeel, Hazem M


    To develop a conceptually and semantically valid Arabic version of a validated disease-specific instrument of quality of life (QoL) for women with abnormal uterine bleeding (AUB). This is a prospective cohort study conducted at the Department of Obstetrics & Gynecology, King Saud University, Riyadh, Kingdom of Saudi Arabia between December 2010 and December 2011 following ethics approval. Forward translation of the Aberdeen Menorrhagia Severity Scale (AMSS) from English into Arabic was followed by backward translation of the consensus target (Arabic) version into the source (English) language. Subsequently, a final target (Arabic) language version was created. Sixty-one Arabic-speaking women of reproductive age participated in the study. The final Arabic questionnaire was administered to 41 women with self-perceived normal menses (Group 1) on 2 occasions 2 weeks apart. Agreement in the answers deems the questionnaire reliable. The final Arabic version was administered to 20 women with self-perceived AUB (Group 2), and their scores were compared with the first response of Group 1. A significant difference between the groups deems the questionnaire valid. For linguistic validation; intra-class correlation coefficient (ICC) of 0.87 and Kappa statistics of 0.56 to 0.87 indicated good to excellent agreement. For clinical validation, there was a significant difference between Group 1 and 2 (p=0.001). The translated Arabic AMSS is a reliable and valid indicator of QoL in Saudi women with AUB.

  5. A brief conversation analytic communication intervention can change history-taking in the seizure clinic. (United States)

    Jenkins, Laura; Cosgrove, Jeremy; Ekberg, Katie; Kheder, Ammar; Sokhi, Dilraj; Reuber, Markus


    Question design during history-taking has clear implications for patients' ability to share their concerns in general and their seizure experiences in particular. Studies have shown that unusually open questions at the start of the consultation enable patients to display interactional and linguistic markers which may help with the otherwise challenging differentiation of epileptic from nonepileptic seizures (NES). In this study, we compared the problem presentation approach taken by trainee neurologists in outpatient encounters with new patients before and after a one-day conversation analytic training intervention in which doctors were taught to adopt an open format of question design and recognize diagnostically relevant linguistic features. We audio/video-recorded clinical encounters between ten doctors, their patients, and accompanying persons; transcribed the interactions; and carried out quantitative and qualitative analyses. We studied 39 encounters before and 55 after the intervention. Following the intervention, doctors were significantly more likely to use nondirective approaches to soliciting patient accounts of their presenting complaints that invited the patient to describe their problems from their own point of view and gave them better opportunity to determine the initial agenda of the encounter. The time to first interruption by the doctor increased (from 52 to 116 s, p<.001). While patients were given more time to describe their seizure experiences, the overall appointment length did not increase significantly (19 vs 21 min, n.s.). These changes gave patients more conversational space to express their concerns and, potentially, to demonstrate the interactional and linguistic features previously found to help differentiate between epilepsy and NES, without impacting the length of the consultations. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Clinical usefulness of myocardial iodine-123-15-(p-iodophenyl)-3(R,S)-methyl-pentadecanoic acid distribution abnormality in patients with mitochondrial encephalomyopathy based on normal data file in bull`s-eye polar map

    Energy Technology Data Exchange (ETDEWEB)

    Takahashi, Nobukazu; Mitani, Isao; Sumita, Shinichi [Yokohama City Univ. (Japan). School of Medicine] [and others


    Visual interpretation of iodine-123-beta-15-(p-iodophenyl)-3(R,S)-methyl-pentadecanoic acid ({sup 123}I-BMIPP) myocardial images cannot easily detect mild reduction in tracer uptake. Objective assessment of myocardial {sup 123}I-BMIPP maldistributions at rest was attempted using a bull`s-eye map and its normal data file for detecting myocardial damage in patients with mitochondrial encephalomyopathy. Six patients, two with Kearns-Sayre syndrome and four with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS), and 10 normal subjects were studied. Fractional myocardial uptake of 1{sup 23}I-BMIPP was also measured by dynamic static imaging to assess the global myocardial free fatty acid. These data were compared with the cardiothoracic ratio measured by chest radiography and left ventricular ejection fraction assessed by echocardiography. Abnormal cardiothoracic ratio and lower ejection fraction were detected in only one patient with Kearns-Sayre syndrome. Abnormal fractional myocardial uptake was detected in two patients (1.61%, 1.91%), whereas abnormal regional {sup 123}I-BMIPP uptake assessed by the bull`s-eye map was detected in five patients (83%). All patients showed abnormal uptake in the anterior portion, and one showed progressive atrioventricular conduction abnormality and systolic dysfunction with extended {sup 123}I-BMIPP abnormal uptake. The results suggest that assessment based on the normal data file in a bull`s-eye polar map is clinically useful for detection of myocardial damage in patients with mitochondrial encephalomyopathy. (author)

  7. Clinical Management of Adult Patients with a History of Nonsteroidal Anti-Inflammatory Drug-Induced Urticaria/Angioedema: Update

    Directory of Open Access Journals (Sweden)

    Asero Riccardo


    Full Text Available In the large majority of previous studies, patients with a history of acute urticaria induced by nonsteroidal anti-inflammatory drugs (NSAIDs seeking safe alternative drugs have undergone tolerance tests uniquely with compounds exerting little or no inhibitory effect on the cyclooxygenase 1 enzyme. In light of recently published studies, however, this approach seems inadequate and should be changed. The present article critically reviews the clinical management of patients presenting with a history of urticaria induced by a single NSAID or multiple NSAIDs and suggests a simple, updated diagnostic algorithm that may assist clinicians in correctly classifying their patients.

  8. Clinical, Molecular, and Prognostic Significance of WHO Type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and Various Other 3q Abnormalities in Acute Myeloid Leukemia

    NARCIS (Netherlands)

    Lugthart, Sanne; Groschel, Stefan; Beverloo, H. Berna; Kayser, Sabine; Valk, Peter J. M.; van Zelderen-Bhola, Shama Lydia; Ossenkoppele, Gert Jan; Vellenga, Edo; van den Berg-de Ruiter, Eva; Schanz, Urs; Verhoef, Gregor; Vandenberghe, Peter; Ferrant, Augustin; Kohne, Claus-Henning; Pfreundschuh, Michael; Horst, Heinz A.; Koller, Elisabeth; von Lilienfeld-Toal, Marie; Bentz, Martin; Ganser, Arnold; Schlegelberger, Brigitte; Jotterand, Martine; Krauter, Jurgen; Pabst, Thomas; Theobald, Matthias; Schlenk, Richard F.; Delwel, Ruud; Dohner, Konstanze; Lowenberg, Bob; Doehner, Hartmut


    Purpose Acute myeloid leukemia (AML) with inv(3)(q21q26.2)/t(3; 3)(q21; q26.2) inv(3)/t(3; 3)] is recognized as a distinctive entity in the WHO classification. Risk assignment and clinical and genetic characterization of AML with chromosome 3q abnormalities other than inv(3)/t(3; 3) remain largely

  9. Clinical history in management of suspected syncope: A powerful diagnostic tool. (United States)

    Sutton, Richard; van Dijk, Nynke; Wieling, Wouter


    In this paper, the role of history taking as a diagnostic tool in patients with transient loss of consciousness (TLOC) is addressed. From a literature review it can be demonstrated that, if properly performed, the history is a powerful diagnostic tool, which in the majority of cases proves to be the only 'test' necessary to establish a diagnosis other than physical examination and electrocardiogram in patients with TLOC. In order to substantiate this conclusion, we examine the different levels of history taking according to the skills and training of the physician involved, the diagnostic yield of each level, the methodology, and the influence of the venue and urgency of the case.

  10. Nonfocal Symptoms in Patients with Transient Ischemic Attack or Ischemic Stroke: Occurrence, Clinical Determinants, and Association with Cardiac History. (United States)

    Plas, Gerben J J; Booij, Heleen A; Brouwers, Paul J A M; Brusse-Keizer, Marjolein; Koudstaal, Peter J; Dippel, Diederik W J; den Hertog, Heleen M


    Transient ischemic attacks (TIAs) accompanied by nonfocal symptoms are associated with a higher risk of cardiovascular events, in particular cardiac events. Reported frequencies of TIAs accompanied by nonfocal symptoms range from 18 to 53%. We assessed the occurrence of nonfocal symptoms in patients with TIA or minor ischemic stroke in a neurological outpatient clinic in terms of clinical determinants, cardiac history, and atrial fibrillation (AF). We included 1,265 consecutive patients with TIA or minor stroke who visited the outpatient clinic. During these visits, we systematically asked for nonfocal symptoms. Nonfocal symptoms included decreased consciousness, amnesia, positive visual phenomena, non-rotatory dizziness, and paresthesias. Relative risks for the presence of nonfocal symptoms in relation to clinical determinants, AF, and cardiac history were calculated. In 243 (19%) of 1,265 patients, TIA or minor ischemic stroke was accompanied by one or more nonfocal symptoms. Non-rotatory dizziness, paresthesia, and amnesia were the most common nonfocal symptoms. In patients with an event of the posterior circulation or obesity, the qualifying TIA or minor stroke was more frequently accompanied by nonfocal symptoms, and in patients with significant carotid stenosis, nonfocal symptoms occurred less frequently. AF was related only with amnesia. Nonfocal symptoms are present in one out of 5 patients with TIA or ischemic stroke, in particular when located in the posterior circulation. A cardiac history or AF was not directly related to nonfocal symptoms. A heterogeneous etiology is suggested. © 2016 S. Karger AG, Basel.

  11. Enigmatic human tails: A review of their history, embryology, classification, and clinical manifestations. (United States)

    Tubbs, R Shane; Malefant, Jason; Loukas, Marios; Jerry Oakes, W; Oskouian, Rod J; Fries, Fabian N


    The presence of a human tail is a rare and intriguing phenomenon. While cases have been reported in the literature, confusion remains with respect to the proper classification, definition, and treatment methods. We review the literature concerning this anatomical derailment. We also consider the importance of excluding underlying congenital anomalies in these patients to prevent neurological deficits and other abnormal manifestations. © 2016 Wiley Periodicals, Inc.

  12. A brief development history of clinical application of drugs containing henbane. (United States)

    Zhao, P; Liu, X


    There is a long history in the application of drugs containing henbane with its application in ancient time and studies in modern time. For over 3 decades, it has been applied in over 100 kinds of disorders with satisfactory results.

  13. [Prenatal diagnosis of limb and digital abnormalities. Evaluation of the activity of the Port Royal University Clinic from 1979 to 1983. Apropos of 30 cases]. (United States)

    Roume, J; Aubry, M C; Labbé, F; Dumez, Y; Aubry, J P; Henrion, R


    Since 1979, thanks to high level ultrasonography systematic ultrasonic examinations between the 18th and the 22nd week of pregnancy have permitted to prediagnose limb and extremity abnormalities. Embryoscopy and foetoscopy can be used as additional techniques. This paper reports the activity results of the Port Royal Maternity hospital, between 1979 and 1983. In this hospital's Prenatal diagnosis Center, ultrasonographists, obstetricians, geneticists, surgeons, pediatricians and foetopathologists work together fruitfully. 16 limb abnormalities and 14 extremity abnormalities were detected there. We describe the circumstances of their detection, the diagnostic methods used, and the obstetrical attitude chosen.

  14. Electrocardiographic abnormalities in centenarians: impact on survival

    Directory of Open Access Journals (Sweden)

    Rabuñal-Rey Ramón


    Full Text Available Abstract Background The centenarian population is gradually increasing, so it is becoming more common to see centenarians in clinical practice. Electrocardiogram abnormalities in the elderly have been reported, but several methodological biases have been detected that limit the validity of their results. The aim of this study is to analyse the ECG abnormalities in a prospective study of the centenarian population and to assess their impact on survival. Method We performed a domiciliary visit, where a medical history, an ECG and blood analysis were obtained. Barthel index (BI, cognitive mini-exam (CME and Charlson index (ChI were all determined. Patients were followed up by telephone up until their death. Results A total of 80 centenarians were studied, 26 men and 64 women, mean age 100.8 (SD 1.3. Of these, 81% had been admitted to the hospital at least once in the past, 81.3% were taking drugs (mean 3.3, rank 0–11. ChI was 1.21 (SD 1.19. Men had higher scores both for BI (70 -SD 34.4- vs. 50.4 -SD 36.6-, P = .005 and CME (16.5 -SD 9.1- vs. 9.1 –SD 11.6-, P = .008; 40.3% of the centenarians had anaemia, 67.5% renal failure, 13% hyperglycaemia, 22.1% hypoalbuminaemia and 10.7% dyslipidaemia, without statistically significant differences regarding sex. Only 7% had a normal ECG; 21 (26.3% had atrial fibrillation (AF, 30 (37.5% conduction defects and 31 (38.8% abnormalities suggestive of ischemia, without sex-related differences. A history of heart disease was significantly associated with the presence of AF (P = .002, OR 5.2, CI 95% 1.8 to 15.2 and changes suggestive of ischemia (P = .019, OR 3.2, CI 95% 1.2-8.7. Mean survival was 628 days (SD 578.5, median 481 days. Mortality risk was independently associated with the presence of AF (RR 2.0, P = .011, hyperglycaemia (RR 2.2, P = .032, hypoalbuminaemia (RR 3.5, P P = .024. Conclusion Although ECG abnormalities are common in centenarians, they are not related to

  15. An audit comparing the discrepancies between a verbal enquiry, a written history, and an electronic medical history questionnaire: a suggested medical history/social history form for clinical practice.

    LENUS (Irish Health Repository)

    Carey, Barbara


    In everyday practice, dentists are confronted with an increasing number of patients with complex medical problems. There is divergence of opinion among dentists regarding how to obtain a thorough medical\\/social history.

  16. Clinical characteristics of patients with tinnitus evaluated with the Tinnitus Sample Case History Questionnaire in Japan: A case series.

    Directory of Open Access Journals (Sweden)

    Takashi Kojima

    Full Text Available The Tinnitus Sample Case History Questionnaire was determined as a standardized questionnaire for obtaining patient case histories and for characterizing patients into subgroups at the Tinnitus Research Initiative in 2006. In this study, we developed a Japanese version of this questionnaire for evaluating the clinical characteristics of patients with tinnitus. The Japanese version of the questionnaire will be available for evaluating treatments for tinnitus and for comparing data on tinnitus in research centers.To evaluate the clinical characteristics of patients with tinnitus in Japan using a newly developed Japanese version of Tinnitus Sample Case History Questionnaire.This was a prospective study based on patient records.University hospitals, general hospitals, and clinics.We collected patient data using a Japanese translated version of the Tinnitus Sample Case History Questionnaire. In total, 584 patients who visited our institutions in Japan between August 2012 and March 2014 were included (280 males and 304 females; age 13-92 years; mean age, 60.8. We examined patients after dividing them into two groups according to the presence or absence of hyperacusis. The collected results were compared with those from the Tinnitus Research Initiative database.Compared with the TRI database, there were significantly more elderly female patients and fewer patients with trauma-associated tinnitus. There was a statistically lower ratio of patients with hyperacusis. We found that patients with tinnitus in addition to hyperacusis had greater tinnitus severity and exhibited higher rates of various complications.The Japanese version of the Tinnitus Sample Case History Questionnaire developed in this study can be a useful tool for evaluating patients with tinnitus in Japan. The results of this multicenter study reflect the characteristics of patients with tinnitus who require medical care in Japan. Our data provides a preliminary basis for an international

  17. Association between family history of mood disorders and clinical characteristics of bipolar disorder: results from the Brazilian bipolar research network. (United States)

    Berutti, Mariangeles; Nery, Fabiano G; Sato, Rodrigo; Scippa, Angela; Kapczinski, Flavio; Lafer, Beny


    To compare clinical characteristics of bipolar disorder (BD) in patients with and without a family history of mood disorders (FHMD) in a large sample from the Brazilian Research Network of Bipolar Disorders. Four-hundred eighty-eight DSM-IV BD patients participating in the Brazilian Research Network of Bipolar Disorders were included. Participants were divided between those with FHMD (n=230) and without FHMD (n=258). We compared these two groups on demographic and clinical variables and performed a logistic regression to identify which variables were most strongly associated with positive family history of mood disorders. BD patients with FHMD presented with significantly higher lifetime prevalence of any anxiety disorder, obsessive-compulsive disorder, social phobia, substance abuse, and were more likely to present history of suicide attempts, family history of suicide attempts and suicide, and more psychiatric hospitalizations than BD patients without FHMD. Logistic regression showed that the variables most strongly associated with a positive FHMD were any comorbid anxiety disorder, comorbid substance abuse, and family history of suicide. Cross-sectional study and verification of FHMD by indirect information. BD patients with FHMD differ from BD patients without FHMD in rates of comorbid anxiety disorder and substance abuse, number of hospitalizations and suicide attempts. As FHMD is routinely assessed in clinical practice, these findings may help to identify patients at risk for particular manifestations of BD and may point to a common, genetically determined neurobiological substrate that increases the risk of conditions such as comorbidities and suicidality in BD patients. Copyright © 2014 Elsevier B.V. All rights reserved.

  18. Splenic mass with remote trauma history: a management dilemma.

    LENUS (Irish Health Repository)

    McCarthy, C J


    BACKGROUND: Delayed presentation of splenic trauma is a well described entity. METHOD: We report two patients who presented with splenic abnormality found incidentally on imaging for other medical problems. A remote history of splenic trauma was elicited during clinical evaluation; 18 months in one patient and 11 years in the second patient. Both patients underwent surgical exploration. CONCLUSIONS: Radiological investigations could not reassure us that the splenic abnormalities were benign, and their management was the subject of some debate.

  19. Splenic mass with remote trauma history: a management dilemma.

    LENUS (Irish Health Repository)

    McCarthy, C J


    BACKGROUND: Delayed presentation of splenic trauma is a well described entity. METHOD: We report two patients who presented with splenic abnormality found incidentally on imaging for other medical problems. A remote history of splenic trauma was elicited during clinical evaluation; 18 months in one patient and 11 years in the second patient. Both patients underwent surgical exploration. CONCLUSIONS: Radiological investigations could not reassure us that the splenic abnormalities were benign, and their management was the subject of some debate.

  20. Chromosomal abnormalities in child psychiatric patients.


    Hong, K. E.; Kim, J. H.; Moon, S. Y.; Oh, S. K.


    To determine the frequency of chromosomal abnormalities in a child psychiatric population, and to evaluate possible associations between types of abnormalities and patient's clinical characteristics, cytogenetic examination was performed on 604 patients. Demographic data, reasons for karyotyping, clinical signs, and other patient characteristics were assessed and correlated with the results from karyotyping. Chromosomal abnormalities were found in 69 patients (11.3%); these were structural in...

  1. Clinical Profiles of Young Adults With Juvenile-Onset Fibromyalgia With and Without a History of Trauma. (United States)

    Nelson, Sarah; Cunningham, Natoshia; Peugh, James; Jagpal, Anjana; Arnold, Leslie M; Lynch-Jordan, Anne; Kashikar-Zuck, Susmita


    To examine the differential presentation(s) of psychological and health-related outcomes in young adults with juvenile-onset fibromyalgia (FM) with and without a history of trauma, compared to healthy controls. In total, 110 participants (86 with juvenile-onset FM and 24 healthy controls, with a mean age of 23.4 years) completed a structured clinical interview to assess for trauma and psychological comorbidities, as well as self-report questionnaires on pain, physical functioning, and health care utilization. Of the juvenile-onset FM participants, 37% (n = 32) reported a history of trauma. Three group comparisons (i.e., juvenile-onset FM with trauma versus juvenile-onset FM with no trauma versus healthy controls) revealed that juvenile-onset FM participants significantly differed from healthy controls on all psychological and health-related outcomes. Further, although juvenile-onset FM participants with and without a history of trauma did not significantly differ on pain and physical functioning, juvenile-onset FM participants with a history of trauma were significantly more likely to have psychological comorbidities. This is the first controlled study to examine the differential outcomes between juvenile-onset FM participants with and without a history of trauma. Group comparisons between juvenile-onset FM participants and healthy controls were consistent with previous research. Further, our findings indicate that juvenile-onset FM participants with a history of trauma experience greater psychological, but not physical, impairment than juvenile-onset FM participants without a history of trauma. © 2017, American College of Rheumatology.

  2. Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes. (United States)

    Grati, Francesca Romana; Barlocco, Andrea; Grimi, Beatrice; Milani, Silvia; Frascoli, Giuditta; Di Meco, Anna Maria; Liuti, Rosaria; Trotta, Anna; Chinetti, Sara; Dulcetti, Francesca; Ruggeri, Anna Maria; De Toffol, Simona; Clementi, Maurizio; Maggi, Federico; Simoni, Giuseppe


    During the past 20 years non-invasive screening tests have been increasingly utilized in prenatal diagnosis (PD) practice. Considerable effort has been exerted by multicenter consortia to evaluate the reliability of non-invasive screening tests in detecting those women with an increased risk of having a pregnancy affected by trisomies 21, 18, and 13, monosomy X, and triploidies. To what extent this group of abnormal karyotypes accounts for the total number of phenotypically relevant fetal chromosome abnormalities has, however, never been investigated. The present report is an attempt aimed to quantify this proportion. A retrospective analysis of a homogeneous survey of 115,128 consecutive invasive prenatal tests was undertaken. All cases were classified in accordance with the indication given for the invasive testing. Cytogenetic results regarding 96,416 karyotype analyses performed because of advanced maternal age (>or=35 years) or gestational anxiety (non-invasive screening tests. We calculated the number of cases (T21, T18, T13, 45,X, and triploidy) that would have been detected by prenatal screening on the basis of the published detection rate of the combined-2 test or the quadruple test. Our findings indicate that the chromosomal abnormalities investigated by screening tests represent fetal chromosomal abnormalities associated with an abnormal outcome ranging from intermediate-to-severe in women 50% in women >or=35 years (65.1% and 61.8%, respectively). To conclude, approximately 50% of the phenotypically relevant abnormal karyotypes cannot be detected by non-invasive prenatal screening tests.

  3. Accuracy of familial reporting of a child's medical history in a dental clinic setting. (United States)

    Schwarz, Jessie Naomi; Monti, Amy; Savelli-Castillo, Ilse; Nelson, Linda P


    Accurate reporting of medical history information is essential to provide safe and successful dental treatment to children. The purpose of this study was to evaluate the accuracy of health histories reported by parents/guardians of pediatric patients presenting for dental treatment by comparing them to the histories provided in the child's medical chart. Data collection from the dental record was performed using the medical history questionnaire from the child's first visit as the data source. Data collected focused on knowledge of the child's medical conditions, current medications, allergies, immunization status, and need for prophylactic antibiotics. Corresponding data were collected from the child's medical chart. Statistical analysis included kappa analysis and calculation of sensitivity, specificity, and failure-to-report rates. The study group consisted of 226 children (99 girls, 127 boys), with a mean age of 10.35 years. The patients were divided into 2 groups based on their medical status (healthy vs medically compromised). For the medically compromised children, parents had high sensitivity reporting rates (>75% sensitivity) for only 2 out of the 9 medical categories. For both groups, history information. Therefore, pediatric dentists need to more closely examine the dental health questionnaire and make every attempt to obtain accurate information to provide appropriate care for each patient.

  4. [History of clinical pharmacology in France: adaptation, evaluation, defense and illustration of drug in France 1978-1981]. (United States)

    Montastruc, Paul


    This text illustrates some unknown aspects of the history and beginnings of clinical pharmacology in France in the late 1970s and early 1980s From the current situation, development and objectives of clinical pharmacology are recalled as well as obstacles necessary to overcome to change the paradigm in the field of drug evaluation and appropriate use in France. The text recalls this important moment where French medicine and medical pharmacology entered the modern era. © 2014 Société Française de Pharmacologie et de Thérapeutique.

  5. Insight into the natural history of primary biliary cirrhosis: A systemic review of data from placebo-controlled clinical trials. (United States)

    Xu, Ping; Li, Lan; Li, Guogang; Yu, Chaohui; Li, Youming


    The natural history of primary biliary cirrhosis (PBC) is extremely variable. The extraction and analysis of available information from placebo-treated patients in randomized controlled trials of PBC treatment would facilitate the study of the natural history of PBC. The aim of the present study was to determine important clinical information regarding the natural history of PBC patients without effective treatment. A search of the PubMed, EMBASE and Cochrane Library databases was performed by two authors. Twelve randomized placebo-controlled clinical trials for PBC patients without decompensated cirrhosis were retrieved for further review. Pooled estimates of biochemical measurements, histological scores and clinical outcomes associated with PBC were calculated in the placebo group. Placebo-treated PBC patients displayed a significant decrease in serum alkaline phosphatase and very slight fluctuations in the other biochemical parameters during the 2-year follow-up. Meanwhile, histological progression was observed in 39.4% of the placebo-treated patients, and a moderate deterioration in histological scores was noted after 2 years. The pooled 2-year rates of death, transplantation and development of varices were 11.4%, 8.7% and 10.6%, respectively, in placebo-treated PBC patients. This review provides a foundation for further epidemiologic investigations in untreated patients and ursodeoxycholic acid-resistant patients with PBC. Biochemical responses after 2 years may provide some information on disease progression and therapeutic response in PBC.

  6. Cluster analysis of the clinical histories of cattle affected with bovine anaemia associated with Theileria orientalis Ikeda type infection. (United States)

    Lawrence, K E; Forsyth, S F; Vaatstra, B L; McFadden, Amj; Pulford, D J; Govindaraju, K; Pomroy, W E


    AIM To determine the most commonly used words in the clinical histories of animals naturally infected with Theileria orientalis Ikeda type; whether these words differed between cases categorised by age, farm type or haematocrit (HCT), and if there was any clustering of the common words in relation to these categories. METHODS Clinical histories were transcribed for 605 cases of bovine anaemia associated with T. orientalis (TABA), that were submitted to laboratories with blood samples which tested positive for T. orientalis Ikeda type infection by PCR analysis, between October 2012 and November 2014. χ2 tests were used to determine whether the proportion of submissions for each word was similar across the categories of HCT (normal, moderate anaemia or severe anaemia), farm type (dairy or beef) and age (young or old). Correspondence analysis (CA) was carried out on a contingency table of the frequency of the 28 most commonly used history words, cross-tabulated by age categories (young, old or unknown). Agglomerative hierarchical clustering, using Ward's method, was then performed on the coordinates from the correspondence analysis. RESULTS The six most commonly used history words were jaundice (204/605), lethargic (162/605), pale mucous membranes (161/605), cow (151/605), anaemia (147/605), and off milk (115/605). The proportion of cases with some history words differed between categories of age, farm type and HCT. The cluster analysis indicated that the recorded history words were grouped in two main clusters. The first included the words weight loss, tachycardia, pale mucous membranes, anaemia, lethargic and thin, and was associated with adult (pcluster included the words deaths, ill-thrift, calves, calf and diarrhoea, and was associated with young (pCluster analysis of words recorded in clinical histories submitted with blood samples from cases of TABA indicates that two potentially different disease syndromes were associated with T. orientalis Ikeda type

  7. [Clinical significance of corrected sinus node recovery time and natural and unnatural history of sinus node dysfunctions. A four-year prospective follow-up of 101 cases]. (United States)

    Raviele, A; Di Pede, F; Zuin, G; Callegari, E; Delise, P; Pascotto, P; D'Este, D; Dainese, F; Piccolo, E


    The clinical significance of corrected sinus node recovery time (CSNRT) and the natural and unnatural history of sinus node dysfunctions are not completely known. To gain some insight into this problem, 101 patients (pts) (54M, 47F, mean age +/- SD = 62.02 yrs +/- 14.42) with clinical and ECG signs of definite or suspected sick sinus syndrome (SSS) underwent an electrophysiologic study and then were prospectively followed for a mean period of 44.36 months +/- 18.96 (range: 2-78 months). The pts were divided into two groups: 1) Group A: 68 pts with prolonged CSNRT (greater than 500 msec); 2) Group B: 33 pts with normal CSNRT. Thirty-three pts of Group A (48.5%) and 2 pts of Group B (6.1%) received VVI pacemaker implantation (PM) immediately after the electrophysiologic study. The following results were obtained: 1) Pts of Group A showed a higher prevalence of organic heart disease and of ECG signs of definite SSS than pts of Group B. (p less than 0.05). Moreover, the higher the CSNRT in Group A pts, the more severe the ECG abnormalities of SSS. 2) Pts without PM, both of Group A and Group B, noted during the follow-up period a disappearance of neurological symptoms (syncopes and/or dizziness) and of ECG abnormalities of SSS in more than 50% of the cases. However, this was less evident in Group A pts compared with Group B pts (53.8% vs 78.6% regarding neurological symptoms and 54.3% vs 74.1% regarding ECG abnormalities of SSS) as well as in pts with organic heart disease in comparison with those with primitive SSS. Moreover, the number of pts who needed PM implantation during the follow-up period due to the worsening of clinical and ECG signs of SSS were higher in Group A than in Group B (20% vs 6.5%). The occurrence of cardiac death among the pts without PM was similar in pts of Group A (8.5%) and in those of Group B (9.7%). One pt of Group A without PM died suddenly (less than 1 hour). 3) Pts who required PM implantation were older (p less than 0.01) and showed a

  8. Study on patterns and prevalence of EEG abnormalities in children presenting with behavioural disturbances in psychiatry OPD, Gauhati Medical College and Hospital

    Directory of Open Access Journals (Sweden)

    Bobby Hmar


    Full Text Available Background of the study: Children with behavioural abnormalities and developmental disorders are often advised electroencephalography (EEG for evaluation of electrophysiological process of the brain to rule out any organic pathology. Various studies have reported abnormal EEG in these groups of children without history of clinical seizure on routine EEG and sleep EEG. Aim of the study: To study pattern and prevalence of EEG abnormalities in children with behavioural abnormalities without history of clinical seizure. Materials and methods: The study is a retrospective study. Ethical clearance has been obtained from institutional ethical committee for the study. To collect data, socio-demographic and clinical data proforma has been used. Data has been evaluated during the period from June 2011 to June 2014 as per selection criteria from the case history record of children with behavioural abnormalities attending child guidance clinic (CGC. Associations of abnormal EEG with various psychiatric diagnoses has been analysed and chi-square test has been used. p value <0.05 has been taken as test of significance. Result: Total 2011 children attended CGC from 2011 June to 2014 June. One hundred and ninety two children of various psychiatric diagnoses as per the tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10 criteria had fulfilled the selection criteria and 113 children had done EEG. Abnormal EEG was found in 26.54% of children with various psychiatric diagnoses. Association was statistically significant (p<0.05. The EEG abnormalities were found more in male gender than female (p<0.05 and more in younger age group (four to ten years, p<0.05. Conclusion: Children with various psychiatric diagnoses have significant association with abnormal EEG without history of clinical seizure.

  9. Stumbled, fumbled, bumbled, grumbled, and humbled: looking back at the future history of clinical ethics. (United States)

    Berger, Jeffrey T


    This retrospective of the last quarter century of clinical ethics offers an examination of some of the areas in which it should focus, and refocus, attention in the next. Copyright 2014 The Journal of Clinical Ethics. All rights reserved.

  10. The More Things Change: A Case History of Child Guidance Clinics (United States)

    Levine, Murray; Levine, Adeline


    Analyzes the reasons why the privately supported community child guidance clinic, orginated in 1921 to prevent delinquency and serving a lower class clientele, came to focus on in-clinic, psychoanalytic treatment with a middle class clientele. (JM)

  11. Safety and effectiveness of a preoperative allergy clinic in decreasing vancomycin use in patients with a history of penicillin allergy. (United States)

    Park, Miguel; Markus, Patricia; Matesic, Damir; Li, James T C


    We developed a clinical pathway to optimize the use of antimicrobials by decreasing vancomycin use in preoperative patients with a history of penicillin allergy. To decrease the use of vancomycin in surgical patients with a self-reported penicillin allergy. In June 2002, same-day allergy consultation and penicillin skin testing were made available for preoperative patients with self-reported penicillin allergy at the preoperative evaluation (POE) clinic. We reviewed the penicillin allergy skin test results, recommendations, and beta-lactam antibiotic administration outcomes from July 1, 2002, to September 16, 2003. A total of 1,204 of 11,819 patients were evaluated for beta-lactam allergy at the POE clinic. Of these, 1,120 were approved by the institutional review board for inclusion in the study and 9 were excluded from the study. Of the remaining 1,111 patients, 1,030 (93%) underwent skin testing for penicillin allergy. Forty-three (4%) had a positive skin test result to penicillin. A total of 947 (85%) of the 1,111 patients with a history of beta-lactam allergy were advised to use a beta-lactam antibiotic, and 164 (15%) were advised to avoid beta-lactams. A total of 955 patients (86%) actually received preoperative antibiotics. Of these 955 patients, 716 (75%) received cefazolin, and only 149 (16%) received vancomycin compared with 30% historical controls (P penicillin skin test result who received a cephalosporin, 5 (0.7%) of 675 experienced an adverse drug reaction to a cephalosporin. Establishment of a clinical pathway in a preoperative clinic that includes allergy consultation and penicillin skin testing reduced vancomycin use to only 16% in surgical patients with a history of beta-lactam allergy.

  12. "Transferred to another institution": clinical histories of psychiatric patients murdered in the Nazi "euthanasia" killing program. (United States)

    Steger, Florian; Görgl, Andreas; Strube, Wolfgang; Winckelmann, Hans-J; Becker, Thomas


    This study aims to examine the practice of medical reporting in a totalitarian environment including systematic killing of people with mental illness in Nazi Germany. The historical analysis is based on patient documents and administrative files at today's District Hospital, Günzburg, as well as on patient documents of inventory R 179 of the branch office of the Federal Archives (Bundesarchiv) in Berlin/Lichterfelde. The paper describes four patient histories and attempts to reconstruct some aspects of patients' (mostly institutional) histories against the background of the Günzburg State Hospital serving as an assembly institution in the context of "Aktion T4." There is no certainty regarding the places of death of the four patients whose medical documentation is reported. In the patient records examined, the practice of medical description and reporting was characterized by a mixture of medical terminology, ideological diction and common language. The type of medical description and documentation used is an expression of stigmatization and discrimination of patients and of traumatizing institutional practice, and it reflects institutional violence. It is an ethical responsibility to reconstruct and commemorate the individual histories of mentally ill patients who were victims of the program of organized mass killings of people with mental illness. Places of death were camouflaged by the "Aktion T4," and there is uncertainty for many patients regarding where they were killed.

  13. Diagnostic value of patient characteristics, history, and six clinical tests for traumatic anterior shoulder instability

    NARCIS (Netherlands)

    van Kampen, D.A.; van den Berg, T.; van der Woude, H.J.; Castelein, R.M.; Terwee, C.B.; Willems, W.J.


    Background: It is unknown which combination of patient information and clinical tests might beoptimal for the diagnosis of traumatic anterior shoulder instability. This study aimed to determinethe diagnostic value of individual clinical tests and to develop a prediction model that combined patient

  14. Various distinctive cytogenetic abnormalities in patients with acute myeloid leukaemia aged 60 years and older express adverse prognostic value : results from a prospective clinical trial

    NARCIS (Netherlands)

    van der Holt, Bronno; Breems, Dimitri A.; Beverloo, H. Berna; van den Berg, Eva; Burnett, Alan K.; Sonneveld, Pieter; Lowenberg, Bob

    Diagnostic cytogenetic abnormalities are considered important prognostic factors in patients with acute myeloid leukaemia (AML). However, the prognostic assessments have mainly been derived from patients with AML aged <60 years. Two recent studies of AML patients of 60 years and older proposed

  15. Characterization of the Pathological and Biochemical Markers that Correlate to the Clinical Features of Autism. Subproject 1: The Neuropathological Markers of Abnormal Brain Development and Aging in Autism (United States)


    Cerebellar dysplasia in 62%; (d) Subcortical, periventricular, hippocampal and cerebellar heterotopias reflect abnormal neuronal igration in 31...patient with autism, epilepsy and ataxia . Dev Med Child Neurol 1994;36:736–42 10 Cheng S, Spinner NB, Zackai EH, et al. Cytogenetic and molecular

  16. Distinguishing bipolar II depression from major depressive disorder with comorbid borderline personality disorder: demographic, clinical, and family history differences. (United States)

    Zimmerman, Mark; Martinez, Jennifer H; Morgan, Theresa A; Young, Diane; Chelminski, Iwona; Dalrymple, Kristy


    Because of the potential treatment implications, it is clinically important to distinguish between bipolar II depression and major depressive disorder with comorbid borderline personality disorder. The high frequency of diagnostic co-occurrence and resemblance of phenomenological features has led some authors to suggest that borderline personality disorder is part of the bipolar spectrum. Few studies have directly compared patients with bipolar disorder and borderline personality disorder. In the present study from the Rhode Island Methods to Improve Diagnostic Assessment and Services project, we compared these 2 groups of patients on demographic, clinical, and family history variables. From December 1995 to May 2012, 3,600 psychiatric patients presenting to the outpatient practice at Rhode Island Hospital (Providence, Rhode Island) were evaluated with semistructured diagnostic interviews for DSM-IV Axis I and Axis II disorders. The focus of the present study is the 206 patients with DSM-IV major depressive disorder and borderline personality disorder (MDD-BPD) and 62 patients with DSM-IV bipolar II depression without borderline personality disorder. The patients with MDD-BPD were significantly more often diagnosed with posttraumatic stress disorder (P depression had a significantly higher morbid risk for bipolar disorder in their first-degree relatives than the MDD-BPD patients (P depression and major depressive disorder with comorbid borderline personality disorder differed on a number of clinical and family history variables, thereby supporting the validity of this distinction. © Copyright 2013 Physicians Postgraduate Press, Inc.

  17. Off-label psychopharmacologic prescribing for children: History supports close clinical monitoring

    Directory of Open Access Journals (Sweden)

    Fegert Joerg M


    Full Text Available Abstract The review presents pediatric adverse drug events from a historical perspective and focuses on selected safety issues associated with off-label use of medications for the psychiatric treatment of youth. Clinical monitoring procedures for major psychotropic drug classes are reviewed. Prior studies suggest that systematic treatment monitoring is warranted so as to both minimize risk of unexpected adverse events and exposures to ineffective treatments. Clinical trials to establish the efficacy and safety of drugs currently being used off-label in the pediatric population are needed. In the meantime, clinicians should consider the existing evidence-base for these drugs and institute close clinical monitoring.

  18. The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. Collaborative Study. Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party. (United States)

    Smith, K; Lowther, G; Maher, E; Hourihan, T; Wilkinson, T; Wolstenholme, J


    We report 611 non-mosaic and 91 mosaic findings of trisomies 13, 18 and 21, and numerical sex chromosome abnormalities in a series of 20,527 CVS, in the Association of Clinical Cytogeneticists U.K. Collaborative Study, the majority with analysis of both direct preparations and cultured cells. No false-positive results were encountered among the 611 non-mosaic cases, making these findings a very reliable indicator of the fetal karyotype. One false-negative case was reported. In contrast, the 91 mosaic abnormalities were unreliable predictors of fetal abnormality. Many were associated with normal outcomes, but a significant proportion of cases of each individual aneuploidy proved genuine. Mosaicism for 45,X, and trisomies 13 and 18 was disproportionately common. 17 of the mosaic cases showed complete discordance between the karyotype from direct preparations and that from cultured cells. All would have resulted in either a false-positive or a false-negative finding if only one technique had been used. Based on our experience, and that of others, we believe that the highest level of predictive accuracy using CVS can only be achieved if both direct preparation and cell culture are performed. In addition, we continue to recommend that all pregnancies demonstrating mosaicism for these aneuploidies at CVS undergo amniocentesis or fetal blood sampling to differentiate between confined placental mosaicism and true fetal karyotypic abnormality.

  19. Mycotic Aneurysm following a Dog Bite: The Value of the Clinical History and Molecular Diagnostics. (United States)

    Evans, Terry J; Lyons, Oliver T; Brown, Aisling; Price, Nicholas; Bell, Rachel E; Sallam, Morad


    A 63-year-old Caucasian taxi driver presented with a 3-week history of malaise, night sweats, 7 kg weight loss, generalized arthralgia, and persistent mid-lower abdominal pain. Blood inflammatory markers were raised, and a computed tomography scan demonstrated an irregular degeneration of the infrarenal aorta, with a differential diagnosis including aortic infection. An urgent type IV thoracoabdominal aneurysm repair was performed with a rifampicin-soaked aortic tube graft during an open procedure. No organisms were grown from multiple peripheral blood cultures or culture of the affected aorta. However, subsequent 16S ribosomal polymerase chain reaction analysis of the resected aorta identified Capnocytophaga canimorsus as the causative organism-a commensal that lives in the mouth of dogs and cats. The patient subsequently gave a history of multiple bites from his pet dog over recent months-the likely source of infection. He was treated with 8 weeks of intravenous antibiotics before switching to oral antibiotics for an additional 6 weeks. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Thoracic splenosis: a case report and the importance of clinical history. (United States)

    Kim, Kyungeun; Choi, Hye-Jeong; Kim, Young Min; Kwon, Woon Jung; Lee, Won Chan; Suh, Jae Hee


    We present a case of thoracic splenosis in a 42-yr-old man with a medical history of abdominal surgery for a penetration injury with an iron bar of the left abdomen and back. He had been in good condition, but a chest radiograph taken during a regular checkup showed a multinodular left pleura-based mass. Computed tomography (CT) showed that the mass was well-enhanced and homogeneous, indicating a sclerosing hemangioma. Following its removal by video-assisted thoracoscopic surgery, the mass appeared similar to a hemangioma, with marked adhesion to the left side diaphragmatic pleura and lung parenchyma. Frozen section showed that the lesion was a solid mass consisted with abundant lymphoid cells, suggesting a low grade lymphoma. On permanent section, however, the mass was found to be composed of white pulp, red pulp, a thick capsule and trabeculae and was diagnosed as ectopic splenic tissue, or thoracic splenosis. Review of the patient's history and chest CT at admission revealed that the patient had undergone a splenectomy for the penetration injury 20 yr previously.

  1. Explaining electromagnetic induction: a critical re-examination. The clinical value of history in physics (United States)

    Roche, J.


    The study of the historical evolution of a theory or explanation in physics can help to improve the present understanding of it. Superseded theories sometimes linger on in modern physics literature. Technical terms devised more than a century ago, perhaps, may now be misleading or inappropriate. Well established conventional explanations or auxiliary constructions may become so familiar that they may occasionally be mistaken for correct physical explanations. Students who fail to recognise the historical origins and present status of such concepts may find themselves unable to fit them into a coherent picture, and may become perplexed or even discouraged as a result. History can often help to clarify such problems and it may even suggest a solution. As a case history illustrating this approach, the author briefly examines the more qualitative aspects of some of the explanations which leading physicists have offered for electromagnetic induction during the past one hundred and fifty years or so. He uses the term 'correct' physical explanation to mean an explanation which is in close agreement with experimental evidence and with modern fundamental theory and also one which is logically sound and accurately worded.

  2. Chromosomal Abnormalities Associated with Neural Tube Defects (I): Full Aneuploidy


    Chih-Ping Chen


    Fetuses with neural tube defects (NTDs) carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations. This article provides an overview of chromosomal abnormalities associated with NTDs in embryos, fetuses, and newborn patients, and a comprehensive review of numerical chromosomal abnormalities associated with NTDs, such as trisomy 18, trisomy 13, triploi...

  3. Anatomy and history of an external quality assessment program for interpretative comments in clinical biochemistry. (United States)

    Vasikaran, Samuel D


    The provision of clinical interpretation of results, either verbally or in the printed report, may be considered an integral part of clinical biochemistry diagnostic service. Proficiency testing or external quality assessment (EQA) of such activity may be useful in education, training, continuing professional development and ensuring the quality of such service. Details of the Patient Report Comments Program (RPCProgram) developed by the Royal College of Pathologists of Australasia (RCPA) Chemical Pathology Quality Assurance Programs Pty Ltd (QAP) is described in this review. The program is aimed at pathologists, clinical scientists and trainees. Registered participants are provided a report with case details and a set of clinical biochemistry results at monthly intervals and submit an interpretative comment for the report. Comments received are broken up into components that are translated into common key phrases. An expert panel evaluates the key phrases, classifies them according to appropriateness and drafts a suggested comment, a case summary and a rationale, which are included in a summary report returned to participants. There is considerable diversity in the quality of interpretative comments received from participants of the PRCProgram. The primary purpose of EQA of interpretative commenting is educational self-assessment, and they are recognized as a continuing professional development activity. Whilst there is some evidence for the utility of interpretative comments in improving patient outcomes, evidence for the utility of EQA in improving quality of comments is awaited. Copyright © 2014 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

  4. [Adipose-derived stromal cells: history, isolation, immunomodulatory properties and clinical perspectives]. (United States)

    Bertheuil, N; Chaput, B; Ménard, C; Varin, A; Garrido, I; Grolleau, J L; Sensébé, L; Watier, E; Tarte, K


    Over the last decade, the clinical use of adipose-derived stromal/stem cells (ASC) in regenerative medicine is rapidly increasing. ASC belong to the mesenchymal stromal cells initially obtained from the bone marrow. Their limited differentiation capacity in vivo into functional mature cells has led to a reassessment of their mechanisms of action. One of the major clinical interests appears related to paracrine effects through a temporary production of trophic and immunomodulatory factors. Our purpose is to provide a review on the latest knowledge in the field of ASC, mechanisms of action, mainly immunomodulatory/immunosuppressive properties, methods of obtention, with a focus on clinical perspectives particularly in the field of cellular therapy and fat grafting technique in plastic surgery. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  5. Clinical differences among depressed patients with and without a history of suicide attempts: findings from the STAR*D trial. (United States)

    Claassen, Cynthia A; Trivedi, Madhukar H; Rush, A John; Husain, Mustafa M; Zisook, Sidney; Young, Elizabeth; Leuchter, Andrew; Wisniewski, Stephen R; Balasubramani, G K; Alpert, Jonathan


    This study sought to determine whether a history of suicide attempts among outpatients diagnosed with nonpsychotic major depressive disorder (MDD) is correlated with any difference in clinical presentation that should influence patient care. Baseline data from the Sequenced Treatment Alternatives to Relieve Depression (STAR()D) trial on outpatients with MDD treated in primary and specialty care settings were used to model significant demographic and clinical correlates of suicide attempter status. Altogether, 16.5% of participants (n=667) reported prior suicide attempts. Controlling for age, gender, and depressive symptom severity, previous attempters had more current general medical conditions (micro=3.2 vs. 2.9, palcohol/substance abuse (pwork hours missed in the past week (26.2% vs. 18.2%, pconsequences associated with this increased disease burden.

  6. The effect of low-dose aspirin on fetal weight of idiopathic asymmetrically intrauterine growth restricted fetuses with abnormal umbilical artery Doppler indices: a randomized clinical trial. (United States)

    Ali, Mohammed K; Abbas, Ahmed M; Yosef, Ali H; Bahloul, Mustafa


    To investigate the effect of aspirin on fetal weight in fetuses with idiopathic asymmetrical intrauterine growth restriction (IUGR) complicated by abnormal umbilical artery Doppler indices. The study was a randomized controlled trial conducted at Woman's Health Hospital, Assiut, Egypt, between June 2016 and the January 2017 included 60 pregnant women (28-30 weeks) with idiopathic asymmetrical IUGR associated with abnormal umbilical artery Doppler indices. Women were randomly assigned to group I (aspirin 75 mg) daily for four weeks or group II (no intervention). The primary outcome was the fetal weight after four weeks. Secondary outcomes included Doppler blood flow changes in the umbilical artery plus delivery and neonatal outcomes. The estimated fetal weight and umbilical artery blood flow increased significantly in aspirin group (p = .00) when compared with no intervention group. As regard neonatal outcomes; aspirin group showed better results and encouraging outcomes (p Doppler blood flow.

  7. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features. (United States)

    Ruggieri, M; Polizzi, A; Spalice, A; Salpietro, V; Caltabiano, R; D'Orazi, V; Pavone, P; Pirrone, C; Magro, G; Platania, N; Cavallaro, S; Muglia, M; Nicita, F


    Spinal neurofibromatosis (SNF) is a related form of neurofibromatosis 1 (NF1), characterized by bilateral neurofibromas (histologically proven) of all spinal roots (and, eventually, of all the major peripheral nerve branches) with or without other manifestations of classical NF1. By rigorous application of these criteria to the 98 SNF cases published, we developed: (i) a cohort of 49 SNF patients (21 males and 28 females; aged 4-74 years]: 9 SNF families (21/49), 1 mixed SNF/NF1 family (1/49) and 27 of 49 sporadic SNF patients (including 5 unpublished patients in this report); and (ii) a group of 49 non-SNF patients including: (a) 32 patients with neurofibromas of multiple but not all spinal roots (MNFSR): 4 mixed SNF/MNFSR families (6/32); (b) 14 patients with NF1 manifestations without spinal neurofibromas, belonging to SNF (8/49) or MNFSR families (6/32); (c) 3 patients with neurofibromas in one spinal root. In addition to reduced incidence of café-au-lait spots (67% in SNF vs 56% in MNFSR), other NF1 manifestations were less frequent in either cohort. Molecular testing showed common NF1 gene abnormalities in both groups. The risk of developing SNF vs NF1 was increased for missense mutations [p = 0.0001; odds ratio (OR) = 6.16; confidence interval (CI) = 3.14-13.11], which were more frequent in SNF vs MNFSR (p = 0.0271). © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants (United States)

    Regner, Sean R.; Wilcox, Nicholas; Friedman, Lisa S.; Seyer, Lauren; Schadt, Kim; Brigatti, Karlla W.; Perlman, Susan; Delatycki, Martin; Wilmot, George R.; Gomez, Christopher M.; Bushara, Khalaf O.; Mathews, Katherine D.; Subramony, S.H.; Ashizawa, Tetsuo; Ravina, Bernard; Brocht, Alicia; Farmer, Jennifer M.; Lynch, David R.


    Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by ataxia, dysarthria, and areflexia. We report the progress of a large international non-interventional cohort (n = 410), tracking the natural history of disease progression using the neurological exam-based Friedreich Ataxia Rating Scale. We analyzed the rate of progression with cross-sectional analysis and longitudinal analysis over a 2-year period. The Friedreich Ataxia Rating Scale captured disease progression when used at 1 and 2 years following initial evaluation, with a lower ratio of standard deviation of change to mean change over 2 years of evaluation. However, modeling of disease progression identified substantial ceiling effects in the Friedreich Ataxia Rating Scale, suggesting this measure is most useful in patients before maximal deficit is approached. PMID:22752494

  9. Clinical results of the liquid-based cervical cytology tool, Liqui-PREP, in comparison with conventional smears for detection of squamous cell abnormalities. (United States)

    Canda, M Tunc; Demir, Namik; Sezer, Orcun; Doganay, Latife; Ortac, Ragip


    To compare the adequacy and efficacy of the liquid-based cytology tool Liqui-PREP (LP) with the conventional Papanicolaou smear (CS) test, for the screening of squamous cell abnormalities. Data for 2,000 subjects screened with CS and 4,000 different subjects screened with the LP test were compared. LP showed significant decrease in the rate of unsatisfactory smears (P<0.01) and the detection rate for atypical squamous cells was significantly higher (P<0.01). The rate of low-grade squamous intraepithelial lesion was also higher, but this did not reach statistical significance. The number of high-grade squamous intraepithelial lesions detected was increased with LP, and the histological correlation of LSIL lesions showed a higher positive-predictive value. The coexistence of abnormal colposcopic findings with abnormal smear results was higher for LP (P<0.004). Furthermore, high-risk HPV-DNA detection was found to be increased in atypical LP smears than in normal LP smears. The liquid-based cytology tool LP detected more squamous cell lesions than CS. Also it reduced the number of unsatisfactory results due to enhanced cell visualization, and improved screening for HPV-DNA.

  10. An fMRI Study of Functional Abnormalities in the Verbal Working Memory System and the Relationship to Clinical Symptoms in Chronic Schizophrenia (United States)

    Lee, KangUk; Preus, Alexander; McCarley, Robert W.; Wible, Cynthia G.


    There has been evidence for functional abnormalities of the verbal working memory system in schizophrenia. Verbal working memory crucially involves the interplay between the anterior and posterior language systems, and previous studies have shown converging evidence for abnormalities in the posterior language system in schizophrenia. In this functional magnetic resonance imaging study, we measured cortical activity in chronic schizophrenic patients and matched healthy controls during auditory and visual verbal working memory tasks. We employed 1) regional analyses specifically targeting the posterior language system and 2) analyses of functional connectivity between anterior and posterior language regions. We performed these analyses separately for each memory stage and modality. In the regional analyses, the left sylvian–parietal–temporal (Spt) area consistently showed reduced activation during encoding and retrieval stages in schizophrenia. Magnitudes of activation in the left posterior superior temporal sulcus were correlated with the severity of delusions at every memory stage. Functional connectivity analyses revealed reduced connectivity between the left Spt and the anterior insula during the encoding of auditory words. In addition, the connectivity strength was correlated with the severity of auditory hallucinations. These findings identify abnormal components in the verbal working memory system and illustrate their possible overlap with the mechanisms of core schizophrenic symptoms. PMID:19395526

  11. A survey of obesity and abnormal glucose tolerance in first degree relatives of women with polycystic ovarian syndrome referred to gynaecology clinics of Shiraz university of medical sciences

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    marziye Akbarzadeh


    Full Text Available Polycystic ovarian (pco syndrome is one of the most prevalent( 4-8% endocrine glands disorders among premenopause women. Polycystic ovary syndrome as a form of functional ovarian hyperandrogenemia may has characteristics such as choronic anovulation, infertility, abnormal menstruation and android obesity. This diseas has genetic aspect and in different studies similar abnormalities have been seen in their first degree relatives. Materials and Methods: This research is a case-control study carried out on 107 individuals as case group and 107 individuals as control group selected by simple random sampling in 2009. After recognition patients with PCO syndrome , their first degree relatives (Father,mother,sister and brother have been interviewed. BMI and WHR indices of the both blood samples were taken to study their serum glucose tolerance. Results: Case group, from view point of obesity (BMI≥30 and centeral obesity , ITG level and diabetes regarding WHO standards was higher than similar individuals in control group,but this difference was not statistically significant . The mean of fasting blood sugar in fathers , mothers , brothers and sisters of cas group was significantly higher (p=0.001. Regarding Chi-square test there was no significant relation between obesity diabetes in the both groups. , (BMI≥30kg/m2, centeral obesity and lack of impaired glucose tolerance and type2 diabetes in the both groups. Conclusion: The first degree relatives of the women suffering from polycystic ovarian syndrome are exposed to abnormal glucose tolerance and android obesity.

  12. Monomelic amyotrophy: clinical profile and natural history of 279 cases seen over 35 years (1976-2010). (United States)

    Nalini, Atchayaram; Gourie-Devi, Mandavilli; Thennarasu, Kandavel; Ramalingaiah, Aravinda Hanumanthapura


    Our objective was to study the clinical characteristics and natural history of monomelic amyotrophy (MMA). We used a retrospective study of 279 patients diagnosed to have either upper (Hirayama disease) or lower limb MMA. Results showed that brachial MMA (BMMA) occurred in 224 patients (male:female, 9:1). Mean age of onset was 19.5 ± 4.18 years. Progression occurred over less than five years in the majority (95.9%) of patients. Duration at the last follow-up was: up to five years in 61.4%, 5-10 in 21.3%, 10-15 in 7.2%, > 15 years in 10.1%. MRI showed asymmetrical lower cervical cord atrophy in 44.6% of patients. Crural MMA (CMMA) occurred in 55 patients (male:female, 13:1). Mean age of onset was 21.38 ± 5.3 years. Similar to BMMA, most cases (65.5%) had onset between 15 and 25 years of age. Total duration of illness at the last follow-up was up to five years in 52.7%, 10 and beyond in 47.3%. In conclusion, a large cohort of patients with monomelic amyotrophy seen over 35 years (1976-2010) is described. Study data support the clinical findings and its natural history with long term follow-up, and the findings emphasize that monomelic amyotrophy is a 'benign' condition with a self-limiting course.

  13. Abnormal Grief: Should We Consider a More Patient-Centered Approach? (United States)

    Moayedoddin, Babak; Markowitz, John C


    Grief, the psychological reaction to the loss of a significant other, varies complexly in its cause, experience, evolution, and prognosis. Although most bereaved individuals experience a normal grieving process, some develop complicated grief (CG) or major depressive disorder (MDD). The DSM-5, which controversially altered the nosology, recognizes grief-related major depression (GRMD) as a diagnostic subtype if a patient meets MDD criteria two weeks post bereavement. The (DSM-5) tries to distinguish between grief and MDD, but remains a symptom-based, centered approach to grief that is not patient centered. This article reviews grief in its normal and abnormal dimensions. Using an illustrative clinical case in which interpersonal psychotherapy (IPT) was employed, we discuss the need for a more patient-centered approach to treating abnormal grief, considering the patient's personal history, perceptions, experiences of bereavement, and interpersonal environment. Clinical studies need to better identify subgroups of individuals susceptible to abnormal grief and to evaluate their response to early interventions.

  14. Clinical research regulation in India-history, development, initiatives, challenges and controversies: Still long way to go. (United States)

    Imran, Mohammed; Najmi, Abul K; Rashid, Mohammad F; Tabrez, Shams; Shah, Mushtaq A


    The Central Drugs Standard Control Organisation and its chairman Drug Controller general of India are bequeathed to protect the citizens from the marketing of unsafe medication. The startling findings, of the 59(th)report of the Parliamentary Standing Committee on Health and Family Welfare, have uncovered the lax standards followed by the regulatory authorities in India. The growing clinical research after the product patents rights for the pharmaceutical industries as per the trade related aspects of intellectual property rights agreement and adverse drug reaction monitoring of the marketed drugs have raised many ethical and regulatory issues regarding the promotion of new drugs in Indian markets. Many controversial group of medicines; unauthorised and irrational FDCs not relevant to India's medical needs, are available which are not sold in any of the countries with matured regulatory bodies. It becomes vital to understand the history, growth and evolution of the regulatory aspects of drugs which are handled by multiple Ministries and Departments of the Government of India. Although amendment to Schedule Y, registration of Contract Research Organisations, registration of Clinical Trials, Speeding up review process, Pharmacovigilance (PhV) programme for India and Inspection of clinical trial sites have been started by the various regulatory agencies. However due to casual approach in marketing approval for sale of the drugs, the unethical steps taken by some pharmaceutical companies and medical practitioners has reiterated the need to get appropriate understanding of present regulation of drugs and clinical research especially regarding the practical rules and regulations.

  15. Clinical research regulation in India-history, development, initiatives, challenges and controversies: Still long way to go

    Directory of Open Access Journals (Sweden)

    Mohammed Imran


    Full Text Available The Central Drugs Standard Control Organisation and its chairman Drug Controller general of India are bequeathed to protect the citizens from the marketing of unsafe medication. The startling findings, of the 59 th report of the Parliamentary Standing Committee on Health and Family Welfare, have uncovered the lax standards followed by the regulatory authorities in India. The growing clinical research after the product patents rights for the pharmaceutical industries as per the trade related aspects of intellectual property rights agreement and adverse drug reaction monitoring of the marketed drugs have raised many ethical and regulatory issues regarding the promotion of new drugs in Indian markets. Many controversial group of medicines; unauthorised and irrational FDCs not relevant to India′s medical needs, are available which are not sold in any of the countries with matured regulatory bodies. It becomes vital to understand the history, growth and evolution of the regulatory aspects of drugs which are handled by multiple Ministries and Departments of the Government of India. Although amendment to Schedule Y, registration of Contract Research Organisations, registration of Clinical Trials, Speeding up review process, Pharmacovigilance (PhV programme for India and Inspection of clinical trial sites have been started by the various regulatory agencies. However due to casual approach in marketing approval for sale of the drugs, the unethical steps taken by some pharmaceutical companies and medical practitioners has reiterated the need to get appropriate understanding of present regulation of drugs and clinical research especially regarding the practical rules and regulations.

  16. Erythema elevatum diutinum as a first clinical manifestation for diagnosing HIV infection: case history

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    Patrícia Accioni Rover

    Full Text Available CONTEXT: Erythema elevatum diutinum is a chronic and rare dermatosis that is considered to be a variant of leukocytoclastic vasculitis. It is probably mediated by immune complexes. It is generally associated with autoimmune, neoplastic and infectious processes. Recently, it has been added to the group of specific dermatoses that are associated with HIV. CASE REPORT: We report on the case of a patient who had erythema elevatum diutinum as the first clinical evidence for diagnosing HIV infection. Dapsone was used in the treatment of this patient, and partial regression of the lesions was achieved within 15 days, even before antiretroviral therapy was prescribed. CONCLUSION: When there is a diagnosis of erythema elevatum diutinum, HIV infection should be investigated, especially in atypical and exacerbated clinical manifestations.

  17. [QEEG and brain mapping. Historial develoment, clinical practices and epistemological issues]. (United States)

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


    Although it has been more than two decades since brain mapping was introduced in medicine, its scientific value and clinical practice have not been proved. This paper makes an overview about the historical development of brain mapping, its usefulness in psychiatry and lays epistemological issues concerning the role of technology in medical settings. Both historical and technological development of qEEG gives us the opportunity to think about complexity between ethics, science, technology and medicine.

  18. Natural history, clinical consequences, and morphologic features of coronary arterial aneurysms in adults. (United States)

    Roberts, William Clifford


    Clinical and morphologic features are described in 20 adults (15 men) aged 17 to 85 years (mean 56) who at necropsy were found to have ≥1 aneurysm in ≥1 of their 3 major (right, left anterior descending, and left circumflex) epicardial coronary arteries. Of the 34 coronary aneurysms in the 20 patients (single in 10 patients, ≥2 in 10 patients), 27 (79%) contained intra-aneurysmal thrombi, and in each, the thrombus severely narrowed the lumen. Additionally, atherosclerotic plaque was present in the aneurysmal wall in all 27 aneurysms containing thrombi and also in the major coronary arteries uninvolved by aneurysm. The causes of the aneurysms in the 16 patients with intra-aneurysmal thrombi were therefore considered atherosclerotic. In the other 4 patients, with 7 aneurysms, none contained intra-aneurysmal thrombus or atherosclerotic plaque, and the aneurysms were considered congenital. Clinical diagnosis of coronary aneurysm was not made in any of the 20 patients, but none had proper imaging studies during life. Despite the coronary aneurysms and the associated luminal narrowing, only 8 patients (40%) had left ventricular wall scarring or necrosis or clinical evidence of myocardial ischemia. Proper therapy remains ill defined. Copyright © 2011 Elsevier Inc. All rights reserved.


    Directory of Open Access Journals (Sweden)

    Alberto Tosetto


    Full Text Available Quantification of the bleeding severity by use of bleeding assessment tools (BAT and bleeding score (BS has been consistently shown to improve the clinical diagnosis of von Willebrand disease (VWD while helping researchers establish phenotype/genotype correlations.  Subjects with a BS equal or higher than 3 may be consider having a bleeding tendency, and should be referred for a laboratory investigation, particularly for VWD. In the diagnosis of type 1 VWD, the use of the BS has been shown to be highly specific (>95% with reported sensitivities ranging from 40 to 100%. The BS is related to all available measurements of von Willebrand factor activity, including the PFA-100 closure time. Therefore, in clinical practice the use of BAT should always be the first step to standardize the assessment of patients with suspected VWD. The use of the recent ISTH consensus BAT is suggested to harmonize the collection of bleeding symptoms in patients with a suspected or confirmed hemostatic disorder, particularly VWD. The ISTH BAT is also coupled with a Web-based repository of bleeding symptoms, therefore providing an integrated framework for collaboration in the field of clinical evaluation of VWD and mild bleeding disorders.

  20. Young adults with attention deficit hyperactivity disorder: subtype differences in comorbidity, educational, and clinical history. (United States)

    Murphy, Kevin R; Barkley, Russell A; Bush, Tracie


    The present study sought to examine subtype differences in comorbidity and in antisocial, educational, and treatment histories among young adults (ages 17-27) with attention deficit hyperactivity disorder (ADHD). Comparisons were made between ADHD Combined Type (ADHD-C; N = 60) and Predominantly Inattentive Type (ADHD-I; N = 36) relative to each other and to a community control group of 64 adults. Both ADHD groups had significantly less education, were less likely to have graduated from college, and were more likely to have received special educational placement in high school. Both groups also presented with a greater likelihood of dysthymia, alcohol dependence/abuse, cannabis dependence/abuse, and learning disorders, as well as greater psychological distress on all scales of the SCL-90-R than the control group. Both ADHD groups were more likely to have received psychiatric medication and other mental health services than control adults. In comparison with ADHD-I, adults with ADHD-C differed in only a few respects. The C-type adults were more likely to have oppositional defiant disorder, to experience interpersonal hostility and paranoia, to have attempted suicide, and to have been arrested than the ADHD-I adults. These results are generally consistent with previous studies of ADHD in children, extend these findings to adults with ADHD, and suggest that the greater impulsivity associated with the ADHD-C subtype may predispose toward greater antisocial behavior and its consequences than does ADHD-I type in adults.

  1. Evaluation and treatment of Langerhans cell histiocytosis patients with central nervous system abnormalities: Current views and new vistas. (United States)

    Yeh, E Ann; Greenberg, Jay; Abla, Oussama; Longoni, Giulia; Diamond, Eli; Hermiston, Michelle; Tran, Brandon; Rodriguez-Galindo, Carlos; Allen, Carl E; McClain, Kenneth L


    Central nervous system (CNS) involvement in Langerhans cell histiocytosis (LCH) can include mass lesions of the hypothalamic pituitary axis, choroid plexus, cerebrum, and cerebellum or magnetic resonance imaging (MRI) signal abnormalities of the cerebellum, pons, and basal ganglia. The term neurodegenerative (ND) CNS-LCH has been given to the MRI signal abnormalities and neurologic dysfunction, although initially patients may have no clinical symptoms. Standardized evaluations to better understand the natural history and response to therapy are needed. We propose guidelines for clinical, radiologic, and physiologic tests as a framework for developing the best methods of evaluation, which can then be tested in prospective treatment protocols. © 2017 Wiley Periodicals, Inc.

  2. A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history (United States)

    Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M; Brady, Angela F; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra; Ghali, Neeti; Johnson, Diana S; Kariminejad, Ariana; Koch, Johannes; Kraenzlin, Marius; Lahiri, Nayana; Lozic, Bernarda; Manzur, Adnan Y; Morton, Jenny E V; Pilch, Jacek; Pollitt, Rebecca C; Schreiber, Gudrun; Shannon, Nora L; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S; Witsch-Baumgartner, Martina; Zschocke, Johannes; Pope, F Michael; Bönnemann, Carsten G; Rohrbach, Marianne


    Purpose In 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers–Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis–trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens. Only nine affected individuals have been reported to date. Methods We report on a cohort of 17 individuals with FKBP14-kEDS and the follow-up of three previously reported patients, and provide an extensive overview of the disorder and its natural history based on clinical, biochemical, and molecular genetics data. Results Based on the frequency of the clinical features of 23 patients from the present and previous cohorts, we define major and minor features of FKBP14-kEDS. We show that myopathy is confirmed by histology and muscle imaging only in some patients, and that hearing impairment is predominantly sensorineural and may not be present in all individuals. Conclusion Our data further support the extensive clinical overlap with PLOD1-kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS. PMID:28617417

  3. Clinical effect of increasing doses of lenalidomide in high-risk myelodysplastic syndrome and acute myeloid leukemia with chromosome 5 abnormalities

    DEFF Research Database (Denmark)

    Möllgård, Lars; Saft, Leonie; Treppendahl, Marianne Bach


    Background Patients with chromosome 5 abnormalities and high-risk myelodysplastic syndromes or acute myeloid leukemia have a poor outcome. We hypothesized that increasing doses of lenalidomide may benefit this group of patients by inhibiting the tumor clone, as assessed by fluorescence in situ...... hybridization for del(5q31). DESIGN AND METHODS: Twenty-eight patients at diagnosis or with relapsed disease and not eligible for standard therapy (16 with acute myeloid leukemia, 12 with intermediate-risk 2 or high-risk myelodysplastic syndrome) were enrolled in this prospective phase II multicenter trial...

  4. Preliminary report on use of Lahey clinic automated history in an idustrial complex (United States)

    Leonardson, B. O.


    A questionnaire has been developed and used extensively as an aid to the appointment office in determining what department a patient should be referred to and what time for special consultations should be reserved. It has helped to maintain a balanced case load and informs the physician in advance about the patients he will see. By coordinating appointments so that the patient can visit two or more of the specialty departments in one day rather than having to return a number of times to see different doctors, it has increased efficiency. The questionnaire screens for important symptoms or trouble spots to which the computer is programmed to assign scoring values which in turn point out the clinic division or section to which the patient should initially be referred.

  5. The History, Mechanism, and Clinical Application of Auricular Therapy in Traditional Chinese Medicine. (United States)

    Hou, Pu-Wei; Hsu, Hsin-Cheng; Lin, Yi-Wen; Tang, Nou-Ying; Cheng, Chin-Yi; Hsieh, Ching-Liang


    Auricular therapy includes acupuncture, electroacupuncture, acupressure, lasering, cauterization, moxibustion, and bloodletting in the auricle. For 2500 years, people have employed auricular therapy for treating diseases, but the methods have been limited to bloodletting and cauterization. Only after 1957, the international scientific community became aware that the map of the ear resembles an inverted fetus, its introduction has led to auricular acupuncture (AA) becoming a more systemic approach, and, following the identification and standardization of more precise points, AA has been employed in clinical applications. The mechanisms of AA are considered to have a close relationship with the autonomic nervous system, the neuroendocrine system, neuroimmunological factors, neuroinflammation, and neural reflex, as well as antioxidation. Auricular therapy has been applied, for example, for pain relief, for the treatment of epilepsy, anxiety, and obesity, and for improving sleep quality. However, the mechanisms and evidence for auricular therapy warrant further study.

  6. The History, Mechanism, and Clinical Application of Auricular Therapy in Traditional Chinese Medicine

    Directory of Open Access Journals (Sweden)

    Pu-Wei Hou


    Full Text Available Auricular therapy includes acupuncture, electroacupuncture, acupressure, lasering, cauterization, moxibustion, and bloodletting in the auricle. For 2500 years, people have employed auricular therapy for treating diseases, but the methods have been limited to bloodletting and cauterization. Only after 1957, the international scientific community became aware that the map of the ear resembles an inverted fetus, its introduction has led to auricular acupuncture (AA becoming a more systemic approach, and, following the identification and standardization of more precise points, AA has been employed in clinical applications. The mechanisms of AA are considered to have a close relationship with the autonomic nervous system, the neuroendocrine system, neuroimmunological factors, neuroinflammation, and neural reflex, as well as antioxidation. Auricular therapy has been applied, for example, for pain relief, for the treatment of epilepsy, anxiety, and obesity, and for improving sleep quality. However, the mechanisms and evidence for auricular therapy warrant further study.

  7. From clinical judgment to odds: a history of prognostication in anoxic-ischemic coma. (United States)

    Wijdicks, Eelco F M


    Persistent coma from a major anoxic-ischemic injury to the brain may indicate there is less chance for full recovery. The tools of prognostication to assess comatose survivors of cardiopulmonary resuscitation have developed over several decades. Physicians would initially base their judgment on experience and data on outcome in these patients in the early years were merely on awakening not on disability. In the late 1970s, a large multicenter prospective study was performed on outcome in nontraumatic coma. The impetus for this study was the result of Plum and Jennet's collaboration. In 1981--for the first time--complex statistics were used to improve the accuracy of prognosis and became known as the "Levy algorithms." These early seminal studies shaped the prediction models and implied that clinical information alone could assist physicians in making a prediction. Later, probabilistic methods became more commonplace. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  8. Splanchnic artery stenosis and abdominal complaints: clinical history is of limited value in detection of gastrointestinal ischemia. (United States)

    ter Steege, R W F; Sloterdijk, H S; Geelkerken, R H; Huisman, A B; van der Palen, J; Kolkman, J J


    Splanchnic artery stenosis is common and mostly asymptomatic and may lead to gastrointestinal ischemia (chronic splanchnic syndrome, CSS). This study was designed to assess risk factors for CSS in the medical history of patients with splanchnic artery stenosis and whether these risk factors can be used to identify patients with high and low risk of CSS. All patients referred for suspected CSS underwent a standardized workup, including a medical history with questionnaire, duplex ultrasound, gastrointestinal tonometry, and angiography. Definitive diagnosis and treatment advice was made in a multidisciplinary team. Patients with confirmed CSS were compared with no-CSS patients. A total of 270 patients (102 M, 168 F; mean age, 53 years) with splanchnic artery stenosis were analyzed, of whom 109 (40%) had CSS and 161 no CSS. CSS-patients more often reported postprandial pain (87% vs. 72%, p = 0.007), weight loss (85% vs. 70%, p = 0.006), adapted eating pattern (90% vs. 79%, p = 0.005) and diarrhea (35% vs. 22%, p = 0.023). If none of these risk factors were present, the probability of CSS was 13%; if all were present, the probability was 60%. Adapted eating pattern (odds ratio (OR) 3.1; 95% confidence interval (CI) 1.08-8.88) and diarrhea (OR 2.6; 95% CI 1.31-5.3) were statistically significant in multivariate analysis. In patients with splanchnic artery stenosis, the clinical history is of limited value for detection of CSS. A diagnostic test to detect ischemia is indispensable for proper selection of patients with splanchnic artery stenosis who might benefit from treatment.

  9. A randomised controlled trial comparing computer-assisted with face-to-face sexual history taking in a clinical setting. (United States)

    Tideman, R L; Chen, M Y; Pitts, M K; Ginige, S; Slaney, M; Fairley, C K


    To compare computer-assisted self-interview (CASI) with routine face-to-face interview (FTFI) for sexual history taking from patients in a clinical setting. A randomised controlled trial was undertaken at the Melbourne Sexual Health Centre, Melbourne, Victoria, Australia, in 2005. New, walk-in patients triaged into the centre were eligible for the study. Those who consented to the study were randomly allocated (initially at a ratio of 2:1, then 1:1) to either CASI or FTFI. Those randomised to CASI also subsequently undertook FTFI. During the study period, of 713 patients approached, 611 agreed to participate in the study; 356 were randomised to FTFI and 255 to CASI. Overall, the responses to questioning using CASI and FTFI were similar except that women undertaking the CASI reported a significantly higher median number of male partners for the preceding 12 months (3 v 2, p = 0.05) and the CASI participants reported previous hepatitis B vaccination more often (50% v 37%, p = 0.01). Most participants found the CASI either easy (31; 13%) or very easy (193; 82%) to complete; 83 (35%) were comfortable and 121 (51%) were very comfortable with it. CASI may be a reliable, efficient and highly acceptable method for the screening of sexual risk in clinical sexual health settings and could be used routinely to improve the efficiency of clinical services.

  10. A randomised controlled trial comparing computer‐assisted with face‐to‐face sexual history taking in a clinical setting (United States)

    Tideman, R L; Chen, M Y; Pitts, M K; Ginige, S; Slaney, M; Fairley, C K


    Aim To compare computer‐assisted self‐interview (CASI) with routine face‐to‐face interview (FTFI) for sexual history taking from patients in a clinical setting. Methods A randomised controlled trial was undertaken at the Melbourne Sexual Health Centre, Melbourne, Victoria, Australia, in 2005. New, walk‐in patients triaged into the centre were eligible for the study. Those who consented to the study were randomly allocated (initially at a ratio of 2:1, then 1:1) to either CASI or FTFI. Those randomised to CASI also subsequently undertook FTFI. Results During the study period, of 713 patients approached, 611 agreed to participate in the study; 356 were randomised to FTFI and 255 to CASI. Overall, the responses to questioning using CASI and FTFI were similar except that women undertaking the CASI reported a significantly higher median number of male partners for the preceding 12 months (3 v 2, p = 0.05) and the CASI participants reported previous hepatitis B vaccination more often (50% v 37%, p = 0.01). Most participants found the CASI either easy (31; 13%) or very easy (193; 82%) to complete; 83 (35%) were comfortable and 121 (51%) were very comfortable with it. Conclusions CASI may be a reliable, efficient and highly acceptable method for the screening of sexual risk in clinical sexual health settings and could be used routinely to improve the efficiency of clinical services. PMID:17098771

  11. Cost-effectiveness analysis of main diagnosis tools in women with overactive bladder. Clinical history, micturition diary and urodynamic study. (United States)

    López-Fando, L; Carracedo, D; Jiménez, M; Gómez de Vicente, J M; Martínez, L; Gómez-Cañizo, C; Gómez, V; Burgos, F J


    The aim of the present clinical research is to analyze, in the light of the best scientific evidence, the performance and the cost of the main diagnostic tools for overactive bladder (OAB). It is an exploratory transversal study in which 199 women diagnosed of OAB between 2006 and 2008 were selected and underwent to following prospective analyses: physical examination, urine analysis, micturition diary (MD) and urodynamic study (UDS). A percentage of 80% was assumed as highly sensitive and a diagnostic difference among tests of 10% would be considered clinically relevant. Tests' sensitivity for diagnosis of OAB was statistically established by two ways: isolated and combined. Besides, the direct and indirect costs of these tests performance were conducted. Cost-effectiveness study of clinical history (CH), MD and US for the diagnosis of OAB was performed. Overall sensitivity for OAB diagnosis is low for the 3 tests used in isolated way, whilst the combination of any two tests shows good overall sensitivity. The combination of CH and MD has appeared as the most cost-effective alternative to OAB diagnosis. For OAB diagnosis, CH-DM combination shows the same sensitivity than the association of either of them with the UDS, but unlike to these, it shows the lowest cost. Copyright © 2013 AEU. Publicado por Elsevier España, S.L.U. All rights reserved.

  12. Clinical characteristics of children presenting with history of sexual abuse to a tertiary care centre in India. (United States)

    Sowmya, Bhaskaran T S; Seshadri, Shekhar P; Srinath, Shoba; Girimaji, Satish; Sagar, John Vijay


    To study the clinical features of children with history of sexual abuse. A chart review of 40 children (Sexual Abuse (CSA) evaluated at the Department of Child and Adolescent Psychiatry at NIMHANS during a three year period. 52.5% (N=21) of the children came from broken families. The most common form of abuse was contact penetrative (67.5%) followed by contact non-penetrative abuse (30%). Seventy-Five percent (N=30) had a psychiatric diagnosis at baseline and 37.5% of these children had comorbidities. The commonest diagnoses were Depressive Disorder (35%) followed by Stress related disorders--PTSD and Acute Stress Disorder (25%). Children abused multiple times were more likely to have psychiatric illness following CSA. Children abused by multiple perpetrators were more likely to have depression, psychiatric comorbidity and more prone to exhibit sexualized behaviour. Sixty five percent of children did not follow up 8 weeks after the initial consultation. Psychiatric morbidity is high in the population of children with history of CSA. It is necessary to assess the risk factors, circumstances of abuse along with psychiatric morbidity in order provide flexible and tailor made interventions for this population. In order to ensure the best possible care for these families, focused and time limited intervention that respect the needs of the child and addresses the ground realities of the circumstances of the family and the health system are the need of the day. Copyright © 2015 Elsevier B.V. All rights reserved.

  13. Anamnesis project- development of a mobile and web application to manage a unified clinical history in Colombia

    Directory of Open Access Journals (Sweden)

    Luis Armando Cobo Campo


    Full Text Available The problems of the Colombian health sector are diverse and have unique features. These problems can be of different types showing lack of health services coverage, deep economic crisis of national health institutions as well as their managerial insufficiency. In 2004, the Department of Sciences, Technology and Innovation launched the 675 Call which looked for the strengthening of ICT innovation nodes in public health institutions and it was under this call that a project was made to solve one of these problems such as accessing information contained in the clinical histories of Colombian patients in a unified and fast way. This article aims at describing a solution which suggests the implementation of a mobile and web app toconsult primary medical information of patients in emergency by using their identity card number to accessit, thus guaranteeing organizational efficiency.

  14. Andrea Pasta (1706-1782), eclectic scholar of anatomy and clinical medicine, communication and the history of art. (United States)

    Clerici, Carlo Alfredo; Veneroni, Laura; Patriarca, Carlo


    Andrea Pasta was an eclectic visionary light years ahead of his time. He made numerous contributions to the field of medicine, some recognized by his contemporaries and others so visionary that they are being applied only in modern times. His contributions spanned the disciplines of psychology, gynaecology, haematology, infectious diseases and the doctor-patient relationship. Well known among his contemporaries, he combined a passion for clinical medicine and a keen interest in history and art with a strict research methodology and an approach to caring for patients as human beings. By studying his life and works, we can better understand the magnitude and significance of his innovative method and its applicability in modern times and also the significance of his many contributions. © The Author(s) 2013 Reprints and permissions:

  15. Clinical characteristics of depressed patients with a history of suicide attempts: results from the CRESCEND study in South Korea. (United States)

    Park, Min-Hyeon; Kim, Tae-Suk; Yim, Hyeon-Woo; Jeong, Seung Hee; Lee, Chul; Lee, Chang-Uk; Kim, Jae-Min; Jung, Sung-Won; Lee, Min-Soo; Jun, Tae-Youn


    South Korea is a country with one of the highest suicide rates in the world, and the suicide rate is still on the rise. The purpose of this study was to determine the sociodemographic and clinical characteristics of suicide attempts and risk factors related to suicide attempts among depressed patients in South Korea. Among the 1183 participants, 21.4% had a history of a suicide attempt. When the severity of depression was controlled, the risk factors for patients who attempted suicide included younger age, experienced significant life events before 12 years of age, psychotic symptoms, and previous depressive episodes. The characteristics of attempted suicide in depressed patients in South Korea can be summarized as a high suicide attempt rate with no difference in the number of suicide attempts and lethality between males and females. This unique tendency is probably related to the sociodemographic and cultural characteristics of South Korea.

  16. An introduction to Chuna manual medicine in Korea: History, insurance coverage, education, and clinical research in Korean literature. (United States)

    Park, Tae-Yong; Moon, Tae-Woong; Cho, Dong-Chan; Lee, Jung-Han; Ko, Youn-Seok; Hwang, Eui-Hyung; Heo, Kwang-Ho; Choi, Tae-Young; Shin, Byung-Cheul


    The objectives of this study were to summarize the curriculum, history, and clinical researches of Chuna in Korea and to ultimately introduce Chuna to Western medicine. Information about the history and insurance coverage of Chuna was collected from Chuna-related institutions and papers. Data on Chuna education in all 12 Korean medicine (KM) colleges in Korea were reconstructed based on previously published papers. All available randomized controlled trials (RCTs) of Chuna in clinical research were searched using seven Korean databases and six KM journals. As a result, during the modern Chuna era, one of the three periods of Chuna, which also include the traditional Chuna era and the suppressed Chuna era, Chuna developed considerably because of a solid Korean academic system, partial insurance coverage, and the establishment of a Chuna association in Korea. All of the KM colleges offered courses on Chuna-related subjects (CRSs); however, the total number of hours dedicated to lectures on CRSs was insufficient to master Chuna completely. Overall, 17 RCTs were reviewed. Of the 14 RCTs of Chuna in musculoskeletal diseases, six reported Chuna was more effective than a control condition, and another six RCTs proposed Chuna had the same effect as a control condition. One of these 14 RCTs made the comparison impossible because of unreported statistical difference; the last RCT reported Chuna was less effective than a control condition. In addition, three RCTs of Chuna in neurological diseases reported Chuna was superior to a control condition. In conclusion, Chuna was not included in the regular curriculum in KM colleges until the modern Chuna era; Chuna became more popular as the result of it being covered by Korean insurance carriers and after the establishment of a Chuna association. Meanwhile, the currently available evidence is insufficient to characterize the effectiveness of Chuna in musculoskeletal and neurological diseases.

  17. An introduction to Chuna manual medicine in Korea: History, insurance coverage, education, and clinical research in Korean literature

    Directory of Open Access Journals (Sweden)

    Tae-Yong Park


    Full Text Available The objectives of this study were to summarize the curriculum, history, and clinical researches of Chuna in Korea and to ultimately introduce Chuna to Western medicine. Information about the history and insurance coverage of Chuna was collected from Chuna-related institutions and papers. Data on Chuna education in all 12 Korean medicine (KM colleges in Korea were reconstructed based on previously published papers. All available randomized controlled trials (RCTs of Chuna in clinical research were searched using seven Korean databases and six KM journals. As a result, during the modern Chuna era, one of the three periods of Chuna, which also include the traditional Chuna era and the suppressed Chuna era, Chuna developed considerably because of a solid Korean academic system, partial insurance coverage, and the establishment of a Chuna association in Korea. All of the KM colleges offered courses on Chuna-related subjects (CRSs; however, the total number of hours dedicated to lectures on CRSs was insufficient to master Chuna completely. Overall, 17 RCTs were reviewed. Of the 14 RCTs of Chuna in musculoskeletal diseases, six reported Chuna was more effective than a control condition, and another six RCTs proposed Chuna had the same effect as a control condition. One of these 14 RCTs made the comparison impossible because of unreported statistical difference; the last RCT reported Chuna was less effective than a control condition. In addition, three RCTs of Chuna in neurological diseases reported Chuna was superior to a control condition. In conclusion, Chuna was not included in the regular curriculum in KM colleges until the modern Chuna era; Chuna became more popular as the result of it being covered by Korean insurance carriers and after the establishment of a Chuna association. Meanwhile, the currently available evidence is insufficient to characterize the effectiveness of Chuna in musculoskeletal and neurological diseases.

  18. In utero stem cell transplantation and gene therapy: rationale, history, and recent advances toward clinical application (United States)

    Almeida-Porada, Graça; Atala, Anthony; Porada, Christopher D


    Recent advances in high-throughput molecular testing have made it possible to diagnose most genetic disorders relatively early in gestation with minimal risk to the fetus. These advances should soon allow widespread prenatal screening for the majority of human genetic diseases, opening the door to the possibility of treatment/correction prior to birth. In addition to the obvious psychological and financial benefits of curing a disease in utero, and thereby enabling the birth of a healthy infant, there are multiple biological advantages unique to fetal development, which provide compelling rationale for performing potentially curative treatments, such as stem cell transplantation or gene therapy, prior to birth. Herein, we briefly review the fields of in utero transplantation (IUTx) and in utero gene therapy and discuss the biological hurdles that have thus far restricted success of IUTx to patients with immunodeficiencies. We then highlight several recent experimental breakthroughs in immunology, hematopoietic/marrow ontogeny, and in utero cell delivery, which have collectively provided means of overcoming these barriers, thus setting the stage for clinical application of these highly promising therapies in the near future. PMID:27069953

  19. In utero stem cell transplantation and gene therapy: rationale, history, and recent advances toward clinical application. (United States)

    Almeida-Porada, Graça; Atala, Anthony; Porada, Christopher D


    Recent advances in high-throughput molecular testing have made it possible to diagnose most genetic disorders relatively early in gestation with minimal risk to the fetus. These advances should soon allow widespread prenatal screening for the majority of human genetic diseases, opening the door to the possibility of treatment/correction prior to birth. In addition to the obvious psychological and financial benefits of curing a disease in utero, and thereby enabling the birth of a healthy infant, there are multiple biological advantages unique to fetal development, which provide compelling rationale for performing potentially curative treatments, such as stem cell transplantation or gene therapy, prior to birth. Herein, we briefly review the fields of in utero transplantation (IUTx) and in utero gene therapy and discuss the biological hurdles that have thus far restricted success of IUTx to patients with immunodeficiencies. We then highlight several recent experimental breakthroughs in immunology, hematopoietic/marrow ontogeny, and in utero cell delivery, which have collectively provided means of overcoming these barriers, thus setting the stage for clinical application of these highly promising therapies in the near future.

  20. [Classification of vascular anomalies (tumours and malformations). Clinical characteristics and natural history]. (United States)

    Redondo, P


    Vascular anomalies are divided into tumours and malformations. Haemangiomas are the most frequent amongst the former. Not normally present at birth, except in a premonitory form, they grow for 10-12 months due to hyperplasia, to subsequently undergo a progressive involution for a period that might last from ten to twelve years. They have an incidence of up to 12% in newborns; they are more common amongst girls; and are divided into superficial, deep and compound. Congenital haemangiomas and those that do not undergo involution are considered to be rare entities. Vascular malformations, with a lower incidence than haemangiomas, are always present at birth, they grow by hypertrophy and never undergo involution. According to the classification of the ISSVA, vascular malformations are divided - depending on the vessel affected - into capillary or venular (port-wine stain), venous, lymphatic, arteriovenous and combined or complex. Each of these has certain defining clinical and haemodynamic peculiarities. Within the final group are included some with a low flow, such as the Klippel-Trenaunay syndrome (venous and lymphatic venular vascular malformation associated with the muscular-skeletal hypertrophy of an extremity), and others with a high flow, such as the Parkes-Weber syndrome.

  1. Structurally abnormal human autosomes

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    Chapter 25, discusses structurally abnormal human autosomes. This discussion includes: structurally abnormal chromosomes, chromosomal polymorphisms, pericentric inversions, paracentric inversions, deletions or partial monosomies, cri du chat (cat cry) syndrome, ring chromosomes, insertions, duplication or pure partial trisomy and mosaicism. 71 refs., 8 figs.

  2. Clinical Value of Perfusion Abnormalities of Brain on Technetium-99m HMPAO Single-Photon Emission Computed Tomography in Children With Sydenham Chorea. (United States)

    Giorgio, Sara Maria Delle Acque; Caprio, Maria Grazia; Galante, Flavia; Russo, Giustina; Romano, Alfonso; Vergara, Emilia; Alessio, Maria; Cuocolo, Alberto


    We evaluated whether perfusion brain abnormalities by single-photon emission computed tomography (SPECT) imaging improves diagnostic and prognostic assessment in Sydenham chorea. Twenty-three children with acute autoimmune chorea underwent technetium-99m hexamethylpropyleneamine oxime brain SPECT imaging. In 16 children, SPECT was repeated during the follow-up. A pattern of basal ganglia hyperperfusion was observed in 20 (87%) patients. In 4 of 10 patients with generalized chorea, perfusion was comparable in right and left striatum and right and left thalamus. In 13 patients with hemi-chorea and in 3 with generalized chorea, unilateral hyperperfusion was detected. Three patients with generalized chorea had normal perfusion. Tracer uptake of basal ganglia of the patients at the acute phase was higher than at the follow-up ( P < .001). SPECT seems a useful noninvasive tool in pediatric patients with Sydenham chorea to support the clinicians during the acute phase of disease and to monitor the course of autoimmune chorea.

  3. Epithelial ovarian cancer relapsing as isolated lymph node disease: natural history and clinical outcome

    Directory of Open Access Journals (Sweden)

    Pisconti Salvatore


    Full Text Available Abstract Background Several evidences suggested that ovarian cancer (OC patients showing isolated lymph node recurrence (ILNR have an indolent evolution. The aim of the study was to retrospectively review ILNR observed in our Institution over the past 11 years in order to investigate: the pattern of disease progression after the first diagnosis of ILNR, and their clinical outcome. Methods Between September 1995 and September 2006, 523 epithelial OC were diagnosed in our centers, and 301 of these relapsed. Cases with a diagnosis of ILNR, and at least 12 months of follow up after the diagnosis of ILNR were included. Post-relapse survival (PRS was recorded from the date of the diagnosis of ILNR to the date of death or date last seen. Survival probabilities were estimated according to the method of Kaplan and Meier and compared by the log rank test. Cox's regression model with stepwise variable selection was used to analyse the role of clinico-pathological parameters as prognostic factors for PRS. Results Thirty-two cases were identified as ILNR (10.6% of the recurrences, and 6.1% of the OC population. Most of the patients continued to exhibit the same pattern of progression during follow up, with 75% of the patients free from peritoneal disease after 2 years from the diagnosis of ILNR. Median Post-Relapse Survival (PRS was 37 months, and median Overall Survival (OS was 109 months, with all patients surviving more than 2 years after the initial diagnosis. In multivariate analysis only Platinum-Free Interval (PFI retained a prognostic role for PRS (p value = 0.033. Conclusion ILNR represents a less aggressive pattern of OC relapse which keeps progressing in the lymph nodes in a relatively high percentage of cases. On the other hand, the occurrence of peritoneal spreading after ILNR is associated with a rapidly fatal outcome.

  4. Fetal surgery for myelomeningocele: history, research, clinical trials, and future directions. (United States)

    Keller, B A; Farmer, D L


    Myelomeningocele, more commonly known as spina bifida, is the most common neural tube defect worldwide. In the United States, it is the primary cause of lifelong childhood paralysis with approximately four children born daily with this devastating disease. To minimize damage to the exposed spinal cord and prevent ascending central nervous system infections, postnatal closure of the spinal defect has been the standard of care for decades. Research into the mechanism of spinal cord injury in those with spina bifida revealed that damage continues to accrue during the gestational period. Prenatal defect closure via in utero surgery was proposed to prevent this early deterioration of the spinal cord, and early animal research demonstrated that prenatal repair was feasible and promising. This paved the way for the first human prenatal repairs in the mid-to-late 1990s. Following the promising outcomes observed during the first human cases, a randomized controlled trial, the Management of Myelomeningocele Study (MOMS), was conducted comparing postnatal repair of spina bifida to prenatal repair. The MOMS trial demonstrated that to those undergoing prenatal repair of spina bifida had a decreased need for ventriculoperitoneal shunting and improved lower extremity motor function. With the success of the MOMS trial, in utero repair is now considered the standard of care in those who meet the criteria for prenatal repair. This review will provide an overview of spina bifida and its impact, highlight the historical changes in care, describe the early research and theory that made prenatal repair an option, discuss the clinical experiences with human fetal repair and briefly touch on future research directions for those with myelomeningocele.

  5. Relations between depressive symptoms, anxiety, and T Wave abnormalities in subjects without clinically-apparent cardiovascular disease (from the Multi-Ethnic Study of Atherosclerosis [MESA]). (United States)

    Whang, William; Peacock, James; Soliman, Elsayed Z; Alcantara, Carmela; Nazarian, Saman; Shah, Amit J; Davidson, Karina W; Shea, Steven; Muntner, Paul; Shimbo, Daichi


    The aim of this study was to test the hypothesis that depression and anxiety are associated with electrocardiographic (ECG) repolarization abnormalities in the Multi-Ethnic Study of Atherosclerosis (MESA), a cohort free of symptomatic cardiovascular disease. Depressive symptoms were assessed by using the Center for Epidemiologic Studies Depression Scale and trait anxiety symptoms by using the Spielberger State-Trait Anxiety Inventory; both were categorized according to uppermost quartile. T-wave inversions in ECG leads other than V1 to V3 were obtained from electrocardiograms obtained at rest during the baseline examination. Participants with major intraventricular conduction abnormalities and those taking antiarrhythmics, antidepressants, and/or antipsychotics were excluded. Logistic regression models were estimated with multivariable adjustment for traditional cardiovascular disease risk factors. Among 5,906 participants, elevated depressive symptoms were associated with increased odds of T-wave inversion after multivariable adjustment (odds ratio 2.02, 95% confidence interval 1.33 to 3.06, p = 0.001), whereas greater trait anxiety was associated with reduced odds of T-wave inversion (odds ratio 0.47, 95% confidence interval 0.29 to 0.77, p = 0.003). The divergent associations of depressive symptoms and trait anxiety with ECG T-wave inversions were similar in men and women, and these associations were present across the racial and ethnic subgroups (non-Hispanic white, African-American, Hispanic, and Chinese). In conclusion, symptoms of depression and anxiety were independently yet oppositely associated with ECG T-wave inversions. Negative emotions may have a differential impact on cardiovascular mortality through unique relations with cardiac repolarization. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Crimean-Congo hemorrhagic fever: history, epidemiology, pathogenesis, clinical syndrome and genetic diversity. (United States)

    Bente, Dennis A; Forrester, Naomi L; Watts, Douglas M; McAuley, Alexander J; Whitehouse, Chris A; Bray, Mike


    the features of CCHF, including the clinical syndrome, diagnosis, treatment, pathogenesis, vaccine development and laboratory animal models of CCHF. The paper ends with a discussion of the possible future geographic range of the virus. For the benefit of researchers, we include a Supplementary Table listing all published reports of CCHF cases and outbreaks in the English-language literature, plus some principal articles in other languages, with total case numbers, case fatality rates and all CCHFV strains on GenBank. Copyright © 2013 Elsevier B.V. All rights reserved.

  7. Validation of the Bitestrip versus polysomnography in the diagnosis of patients with a clinical history of sleep bruxism. (United States)

    Mainieri, Vivian Chiada; Saueressig, Aline Cristina; Pattussi, Marcos Pascoal; Fagondes, Simone C; Grossi, Márcio Lima


    This validation study compared an electromyography (EMG) device, Bitestrip, versus polysomnography in the diagnosis of sleep bruxism (SB). Forty-nine consecutive patients (32 women and 17 men, 41.2 ± 12.9 years old) with a clinical history of SB were included in the study from the Orofacial Pain Clinic, Faculty of Dentistry, Pontifical Catholic University of Rio Grande do Sul in Brazil. Initially, we compared an SB positive/negative test result for both systems (agreement 87.8%, sensitivity 84.2%, positive predictive value 100%, and crude kappa 0.71). We then compared a 4-scale test (no, light, moderate, or severe bruxism) between the 2 methods (agreement 80.27%, weighted kappa 0.51, and Kendall W coefficient 0.575). The Bitestrip can be considered as a moderate screening method for the diagnosis of SB, because it is more precise in detecting the presence or absence of SB but less precise in detecting its intensity. Copyright © 2012 Elsevier Inc. All rights reserved.

  8. Music for the dying: a personal account of the new field of music-thanatology--history, theories, and clinical narratives. (United States)

    Schroeder-Sheker, T


    Music-thanatology is a palliative medical modality employing prescriptive music to tend the complex physical and spiritual needs of the dying. "Infirmary music" was an intimate expression of French monastic medicine in 11th-century Cluny and anticipated the holism of both the hospice and palliative medical movements by almost 800 years. Although no longer an expression of any institutional religious identity, music-thanatology is nevertheless concerned with the possibility of a blessed death and the gift that conscious dying can bring to the fullness of life. Music-thanatology interns seek to integrate and model these contemplative and clinical values in daily practice: 18 interns deliver prescriptive music in bedside vigils serving the dying in home, hospital, and hospice settings with great effectiveness in oncology, respiratory illnesses, the slow degenerative diseases, and AIDS. This article is submitted to nurses to serve as an introduction to the field of music-thanatology, providing readers with a brief history, meaningful clinical narratives, some of the musical theories involved, research concerns (archival and medical), and milestones to be addressed for the future implementation of music-thanatology in hospitals and hospices and communities across the nation.

  9. How useful is a history of rubella vaccination for determination of disease susceptibility? A cross-sectional study at a public funded health clinic in Malaysia (United States)


    Background Identification of pregnant women susceptible to rubella is important as vaccination can be given postpartum to prevent future risks of congenital rubella syndrome. However, in Malaysia, rubella antibody screening is not offered routinely to pregnant women in public funded health clinics due to cost constraint. Instead, a history of rubella vaccination is asked to be provided to establish the women’s risk for rubella infection. The usefulness of this history, however, is not established. Thus, this paper aimed to determine the usefulness of a history of rubella vaccination in determining rubella susceptibility in pregnant women. Methods A cross-sectional study was conducted on 500 pregnant women attending a public funded health clinic. Face-to-face interviews were conducted, and demographic data and history of rubella vaccination were obtained. Anti-rubella IgG test was performed. Results A majority of the women (66.6%) had a positive vaccination history. Of these, 92.2% women were immune. A third (33.4%) of the women had a negative or unknown vaccination history, but 81.4% of them were immune to rubella. The sensitivity and specificity of a history of rubella vaccination in identifying disease susceptibility was 54.4% (95% CI: 40.7, 67.4%) and 69.3% (95% CI: 64.7, 73.5%) respectively; the positive predictive value was 18.6% (95% CI: 13.1, 25.5%) and the negative predictive value was 92.2% (95% CI: 88.6, 94.7%). Conclusions A vaccination history of rubella had a poor diagnostic value in predicting rubella susceptibility. However, obtaining a vaccination history is inexpensive compared with performing a serological test. A cost-utility analysis would be useful in determining which test (history versus serological test) is more cost-effective in a country with resource constraint. PMID:23368977

  10. Association of parental history of type 2 diabetes with age, lifestyle, anthropometric factors, and clinical severity at type 2 diabetes diagnosis: results from the DD2 study. (United States)

    Svensson, Elisabeth; Berencsi, Klara; Sander, Simone; Mor, Anil; Rungby, Jørgen; Nielsen, Jens Steen; Friborg, Søren; Brandslund, Ivan; Christiansen, Jens Sandahl; Vaag, Allan; Beck-Nielsen, Henning; Sørensen, Henrik Toft; Thomsen, Reimar Wernich


    We investigated whether parental history of type 2 diabetes mellitus (T2D) is associated with age, lifestyle, anthropometric factors, and clinical severity at the time of T2D diagnosis. We conducted a cross-sectional study based on the Danish Centre for Strategic Research in Type 2 Diabetes cohort. We examined the prevalence ratios (PR) of demographic, lifestyle, anthropometric, and clinical factors according to parental history, using Poisson regression adjusting for age and gender. Of 2825 T2D patients, 34% (n = 964) had a parental history of T2D. Parental history was associated with younger age at diagnosis [adjusted (a)PR 1.66, 95% confidence interval: 1.19, 2.31) for age diabetes complications or comorbidities at T2D diagnosis was not associated with parental history. The lack of an association between parental history and adverse lifestyle factors indicates that T2D patients do not inherit a particular propensity for overeating or inactivity, whereas patients with a parental history may have more severe pancreatic beta cell dysfunction at diagnosis. Copyright © 2015 John Wiley & Sons, Ltd.

  11. Extramedullary Relapse of Acute Lymphoblastic Leukemia Presenting as Abnormal Uterine Bleeding: A Case Report. (United States)

    Robillard, Diana T; Kutny, Matthew A; Chewning, Joseph H; Arbuckle, Janeen L


    Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy. Relapse of ALL occurs in 15%-20% of patients, with 2%-6% occurring exclusively in extramedullary sites. Relapse of ALL in gynecologic organs is extremely rare. We present a case of a 12-year-old girl with a history of ALL who was referred to the pediatric gynecology clinic with abnormal uterine bleeding. She was determined to have an extramedullary uterine relapse of her ALL. Abnormal uterine bleeding in the setting of childhood malignancy is a frequent reason for consultation to pediatric and adolescent gynecology services. This bleeding is commonly attributed to thrombocytopenia due to bone marrow suppressive chemotherapeutic agents. However, as shown in this report, abnormal uterine bleeding might be a manifestation of an extramedullary relapse. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  12. Prevalence of cervical cytology abnormalities among HIV infected ...

    African Journals Online (AJOL)

    Objectives: To establish the prevalence of cervical cytology abnormalities, determine the correlation between CD4+ cell count and abnormal Pap smear, determine the correlation between WHO-HIV staging and abnormal pap smear among HIV infected women attending HIV clinic at Rwanda Military Hospital. Design: ...

  13. [Factors associated with abnormal cervical cytology in pregnant women]. (United States)

    Fan, Ling; Zou, Li-ying; Wu, Yu-mei; Zhang, Wei-yuan


    To investigate the risk factors associated with abnormal cervical cytology findings in pregnant women. From Sep. 2007 to Sep. 2008, 12,112 pregnant women who underwent their antenatal examinations at 12-36 gestational weeks in Beijing Obstetrics and Gynecology Hospital were enrolled in this study. They were all excluded from the following pathologic obstetrics factors including threatened abortion, premature rupture of membranes or placental previa. Thinprep cytology test (TCT) were given at their first examination, meanwhile, a personal clinic file was established to record her occupation, education, address, family income, nationality, age of first intercourse, number of sex partners, contraception, marriage and pregnancy, current gynecologic diseases, family history of gynecologic tumors, history of gynecologic diseases and smoking and result of pelvic examination. Those risk factors leading to abnormal cervical cytology were analyzed. The complete clinical data were collected from 11 906 cases (98.30%, 11,906/12,112). It was found that 10,354 women were shown with normal TCT result, however, 1134 women (9.52%, 1134/11,906) with atypical squamous cells of undetermined significance (ASCUS), 112 women (0.94%, 112/11,906) with atypical glandular cells of undetermined significance (AGUS), 229 women (1.92%, 229/11,906) with low grade squamous intraepithelial (LSIL), 74 women (0.62%, 74/11,906) with high grade squamous intraepithelial (HSIL). Multiple factorial non-conditioned logistic regression analysis showed that age of first sexual intercourse (OR(ASCUS) = 2.90, OR(AGUS) = 7.32), number of sex partners (OR(ASCUS) = 1.49, OR(AGUS) = 2.02), number of abortion (OR(ASCUS) = 1.68, OR(AGUS) = 3.50) were correlated with ASCUS and AGUS. In LSIL group and HSIL group, age of first sexual intercourse (OR(LSIL) = 6.34, OR(HSIL) = 9.26), number of sex partners (OR(LSIL) = 1.69, OR(HSIL) = 1.65), number of abortion (OR(LSIL) = 1.53, OR(HSIL) = 5.33), smoking (OR(LSIL) = 1

  14. A clinically confirmed family history for early myocardial infarction is associated with increased risk of obesity, insulin resistance and metabolic syndrome. (United States)

    Magnusson, Martin; Burri, Philippe; Melander, Olle


    The risk factor pattern underlying a parental history of myocardial infarction (MI) is incompletely understood. We examined whether a parental history of clinically verified early MI may promote development of insulin resistance, obesity and the metabolic syndrome (MetS). One hundred and seventy-four offspring to patients with clinically verified MI before 60 years of age in the population-based prospective Malmo Diet and Cancer (MDC) study were recruited (positive parental history). As controls, we included 174 offspring of MDC participants without MI during 14 years of follow-up in the MDC (negative parental history). MetS was defined according to the National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) guidelines, obesity as BMI greater than 30  kg/m and insulin resistance as the top quartile of homeostasis model assessment index in the 348 included offspring (mean age 44 years, 49% women). The odds ratio, 95% confidence interval, for MetS in positive parental history as compared with negative parental history was 2.05, 1.06-4.00 (P = 0.034) after adjustment for age, sex, low-density lipoprotein cholesterol (LDL) and smoking. positive parental history was also independently associated with obesity 2.50, 1.34-4.66 (P = 0.003), abdominal obesity 2.01, 1.21-3.33 (P = 0.007) and insulin resistance 1.97, 1.14-3.40 (P = 0.014), whereas there was no association with LDL and smoking. All of these relationships were stronger in men than in women. Parental history of clinically verified early MI is associated with MetS, obesity and insulin resistance rather than with traditional cardiovascular disease risk factors such as LDL and smoking, suggesting that primary preventive interventions targeted at weight reduction and improvement of insulin sensitivity may be particularly beneficial in this subset of the population.

  15. Altered fetal growth, placental abnormalities, and stillbirth. (United States)

    Bukowski, Radek; Hansen, Nellie I; Pinar, Halit; Willinger, Marian; Reddy, Uma M; Parker, Corette B; Silver, Robert M; Dudley, Donald J; Stoll, Barbara J; Saade, George R; Koch, Matthew A; Hogue, Carol; Varner, Michael W; Conway, Deborah L; Coustan, Donald; Goldenberg, Robert L


    stillbirths and live births. The patterns of association between placental abnormalities, fetal growth, and stillbirth provide insights into the mechanism of impaired placental function and stillbirth. They also suggest implications for clinical care, especially for placental findings amenable to prenatal diagnosis using ultrasound that may be associated with term stillbirths.

  16. Altered fetal growth, placental abnormalities, and stillbirth.

    Directory of Open Access Journals (Sweden)

    Radek Bukowski

    abnormalities in stillbirths and live births.The patterns of association between placental abnormalities, fetal growth, and stillbirth provide insights into the mechanism of impaired placental function and stillbirth. They also suggest implications for clinical care, especially for placental findings amenable to prenatal diagnosis using ultrasound that may be associated with term stillbirths.

  17. Chromosomal Abnormalities in ADHD

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap


    Full Text Available The prevalence of fragile X syndrome, velocardiofacial syndrome (VCFS, and other cytogenetic abnormalities among 100 children (64 boys with combined type ADHD and normal intelligence was assessed at the NIMH and Georgetown University Medical Center.

  18. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz


    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  19. Impact of early personal-history characteristics on the Pace of Aging: implications for clinical trials of therapies to slow aging and extend healthspan. (United States)

    Belsky, Daniel W; Caspi, Avshalom; Cohen, Harvey J; Kraus, William E; Ramrakha, Sandhya; Poulton, Richie; Moffitt, Terrie E


    Therapies to extend healthspan are poised to move from laboratory animal models to human clinical trials. Translation from mouse to human will entail challenges, among them the multifactorial heterogeneity of human aging. To inform clinical trials about this heterogeneity, we report how humans' pace of biological aging relates to personal-history characteristics. Because geroprotective therapies must be delivered by midlife to prevent age-related disease onset, we studied young-adult members of the Dunedin Study 1972-73 birth cohort (n = 954). Cohort members' Pace of Aging was measured as coordinated decline in the integrity of multiple organ systems, by quantifying rate of decline across repeated measurements of 18 biomarkers assayed when cohort members were ages 26, 32, and 38 years. The childhood personal-history characteristics studied were known predictors of age-related disease and mortality, and were measured prospectively during childhood. Personal-history characteristics of familial longevity, childhood social class, adverse childhood experiences, and childhood health, intelligence, and self-control all predicted differences in cohort members' adulthood Pace of Aging. Accumulation of more personal-history risks predicted faster Pace of Aging. Because trials of anti-aging therapies will need to ascertain personal histories retrospectively, we replicated results using cohort members' retrospective personal-history reports made in adulthood. Because many trials recruit participants from clinical settings, we replicated results in the cohort subset who had recent health system contact according to electronic medical records. Quick, inexpensive measures of trial participants' early personal histories can enable clinical trials to study who volunteers for trials, who adheres to treatment, and who responds to anti-aging therapies. © 2017 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.


    Pylyp, L Y; Spinenko, L O; Verhoglyad, N V; Kashevarova, O O; Zukin, V D


    To assess the frequency and structure of chromosomal abnormalities in patients with infertility, a retrospective analysis of cytogenetic studies of 3414 patients (1741 females and 1673 males), referred to the Clinic of reproductive medicine "Nadiya" from 2007 to 2012, was performed. Chromosomal abnormalities were detected in 2.37% patients: 2.79% in males and 1.95% in females. Balanced structural chromosomal abnormalities prevailed over numerical abnormalities and corresponded to 80.2% of all chromosomal abnormalities detected in the studied group. Sex chromosome abnormalities made up 23.5% of chromosomal pathology (19/81) and included gonosomal aneuploidies in 84% of cases (16/19) and structural abnormalities of chromosome Y in 16% of cases (3/19). The low level sex chromosome mosaicism was detected with the frequency of 0.55%. Our results highlight the importance of cytogenetic studies in patients seeking infertility treatment by assisted reproductive technologies, since an abnormal finding not only provide a firm diagnosis to couples with infertility, but also influences significantly the approach to infertility treatment in such patients.

  1. Clinical Impact and Cost of Monitoring for Asymptomatic Laboratory Abnormalities among Patients Receiving Antiretroviral Therapy in a Resource-Poor Setting (United States)

    Koenig, Serena P.; Schackman, Bruce R.; Riviere, Cynthia; Leger, Paul; Charles, Macarthur; Severe, Patrice; Lastimoso, Charlene; Colucci, Nicole; Pape, Jean W.; Fitzgerald, Daniel W.


    Background Laboratory monitoring for toxicity among patients receiving antiretroviral therapy (ART) in less-developed settings is technically challenging and consumes significant resources. Methods We conducted a cohort study of the 1800 adult patients who initiated ART at the Haitian Study Group for Kaposi’s Sarcoma and Opportunistic Infections (GHESKIO) in Haiti from 2003 to 2006, using baseline data to establish the prevalence and using follow-up data to establish the incidence of hepatitis, renal insufficiency, hyperglycemia, anemia, neutropenia, and thrombocytopenia. We determined how frequently routine (not symptom-driven) testing detected significant laboratory abnormalities and calculated the cost per disability-adjusted life year (DALY) averted by detection of these events in the asymptomatic stage, compared with a strategy of symptom-prompted testing only. Results Forty-eight patients (3.5%) had severe anemia at baseline testing and consequently did not receive zidovudine. Fifty-three patients receiving zidovudine therapy developed severe anemia during follow-up (incidence, 2.5 cases/100 person-years). Monitoring for asymptomatic anemia with hematocrit testing was cost-saving at baseline and had a cost-effectiveness ratio of US$317/DALY averted during follow-up; with a complete blood count, costs increased to US$1182 and $10,781/DALY averted, respectively. With glucose monitoring, 11 patients were diagnosed with new-onset hyperglycemia during follow-up (incidence, 0.7 cases/100 person-years), resulting in a cost-effectiveness ratio of US$9845 per DALY averted. Monitoring for asymptomatic hepatitis and renal insufficiency was expensive and rarely affected care. Conclusions Resource-poor countries should select which laboratory tests to perform on the basis of the cost-effectiveness of each test. This will depend on the national ART drug regimen and the prevalence of other comorbidities. Routine monitoring with multitest hematological and chemistry panels

  2. Cerebral signal intensity abnormalities on T2-weighted MR images in HIV patients with highly active antiretroviral therapy: relationship with clinical parameters and interval changes. (United States)

    Hanning, Uta; Husstedt, Ingo W; Niederstadt, Thomas-Ulrich; Evers, Stefan; Heindel, Walter; Kloska, Stephan P


    The aim of this study was to assess the relationship between immune state and cerebral signal intensity abnormalities (SIAs) on T2-weighted magnetic resonance images in subjects with human immunodeficiency virus type 1 infection and highly active antiretroviral therapy. Thirty-two subjects underwent a total of 109 magnetic resonance studies. The presence of human immunodeficiency virus-associated neurocognitive disorder, categorized CD4(+) T lymphocyte count, and plasma viral load were assessed for relationship with the severity and interval change of SIAs for different anatomic locations of the brain. Subjects with multifocal patterns of SIAs had CD4(+) cell counts < 200 cells/μL in 66.0%, whereas subjects with diffuse patterns of SIAs had CD4(+) cell counts < 200 cells/μL in only 31.4% (P < .001). Subjects without SIAs in the basal ganglia had CD4(+) cell counts < 200 cells/μL in 37.0%, whereas subjects with minor and moderate SIAs in the basal ganglia had CD4(+) cell counts < 200 cells/μL in 78.3% and 80.0%, respectively (P < .005). The percentage of subjects with CD4(+) cell counts < 200 cells/μL was 85.7% when there were progressive periventricular SIA changes and 45.5% when periventricular SIA changes were stable in follow-up (P < .05). The presence and progression of cerebral SIAs on T2-weighted magnetic resonance images reflecting cerebral infection with human immunodeficiency virus are significantly related to impaired immune state as measured by CD4(+) cell count. Copyright © 2011 AUR. Published by Elsevier Inc. All rights reserved.

  3. Predictor(s) of Abnormal Array Comparative Genomic Hybridization Results in Patients With Cleft Lip and/or Palate. (United States)

    Rojnueangnit, Kitiwan; Mikhail, Fady M; Cui, Xiangqin; Yu, Shaohua; Robin, Nathaniel H


    Cleft lip and/or cleft palate (CL/P) occurs either as an isolated anomaly or as one manifestation of genetic syndromes. Chromosomal abnormalities from karyotype analysis are commonly seen in cases of nonisolated CL/P. This study was designed to evaluate the usefulness of clinical array comparative genomic hybridization (aCGH) testing in patients with CL/P. Our objectives were to identify the clinical phenotypes that are predicative of an abnormal aCGH result, correlate aCGH results with language outcome, and analyze the data in the abnormal aCGH results group. Nonisolated CL/P patients who had clinical aCGH testing performed between 2009 and 2012 in the University of Alabama at Birmingham cytogenetics lab were enrolled. The demographic data, clinical phenotypes, and speech outcome were collected. Two hundred forty-five nonisolated CL/P patients were studied, with 62 having an abnormal aCGH result compared to 183 patients with a normal aCGH result. The presence of developmental delay/intellectual disability (DD/ID), dysmorphic features, congenital anomalies, and/or family history of DD/ID were significantly higher in the abnormal aCGH group (P < .05). Neither the aCGH results nor the type of CL/P correlated with speech outcome. Finally, analysis of the abnormal aCGH result group revealed that DD/ID had a strong positive association with the copy number variation pathogenicity and the number of genes involved. This study demonstrated the diagnostic value of clinical aCGH testing in CL/P patients who present with DD/ID, dysmorphic features, other congenital anomalies, and/or family history of DD/ID.

  4. Freud Was Right. . . about the Origins of Abnormal Behavior (United States)

    Muris, Peter


    Freud's psychodynamic theory is predominantly based on case histories of patients who displayed abnormal behavior. From a scientific point of view, Freud's analyses of these cases are unacceptable because the key concepts of his theory cannot be tested empirically. However, in one respect, Freud was totally right: most forms of abnormal behavior…

  5. Acute inversion injury of the ankle without radiological abnormalities: assessment with high-field MR imaging and correlation of findings with clinical outcome

    Energy Technology Data Exchange (ETDEWEB)

    Langner, Inga; Frank, Matthias; Hinz, Peter; Ekkernkamp, Axel [Ernst-Moritz-Arndt-University Greifswald, Department of Trauma and Orthopedic Surgery, Emergency Department, Greifswald (Germany); Kuehn, Jens Peter; Hosten, Norbert; Langner, Soenke [Ernst-Moritz-Arndt-University Greifswald, Institute for Diagnostic Radiology and Neuroradiology, Greifswald (Germany)


    Acute inversion injuries of the ankle are the most common sports accidents, accounting for approximately 10% of emergency room admissions. In up to 85%, an injury of the lateral collateral ligaments is observed. Classically, the assessment of these injuries has relied on clinical examination and radiographs, including stress views. The aim of our study was to correlate prospectively the findings of high-field 3 T MRI in acute ankle distortion with clinical outcome. During a 6-month period, 38 patients were prospectively included. MRI was performed within 48 h of trauma and clinical examination using a protocol consisting of axial T2-weighted and coronal and sagittal T1-weighted images and a sagittal proton density (PDw) sequence. Each ligament injury was graded on a three-point scale. Functional outcome was evaluated using the AOFAS ankle-hindfoot scale. In 24/38 patients (63.12%), ligament injury was observed. In 22/24 cases, this was an injury of the lateral ligaments and in 2/24 cases of the medial ligaments. Injury of the syndesmosis occurred in three patients, a bone bruise in four, and an osteochondral lesion in three cases. Patients with an injury of two or more ligaments or a bone bruise had a lower AOFAS score and returned to sports activities and full weight-bearing later (P < 0.01). MR imaging at 3 Tesla is an independent predictor for clinical outcome. Therefore MRI may be beneficial in those cases where the findings influence further treatment. (orig.)

  6. The burden of narcolepsy with cataplexy: how disease history and clinical features influence socio-economic outcomes. (United States)

    Ingravallo, Francesca; Gnucci, Valentina; Pizza, Fabio; Vignatelli, Luca; Govi, Annamaria; Dormi, Ada; Pelotti, Susi; Cicognani, Alberto; Dauvilliers, Yves; Plazzi, Giuseppe


    To investigate in narcolepsy with cataplexy (NC) patients of working age (18-65 years) the influence of age at onset, age at diagnosis and clinical features on socio-occupational conditions, disease-related economic burden, and quality of life. One hundred consecutive patients underwent a semistructured interview on socio-occupational aspects, NC-related direct and indirect costs, and NC history. Questionnaires were used to evaluate excessive daytime sleepiness, cataplexy, depressive symptoms, and quality of life. NC patients (51 males, mean age 37±11.5 years) had educational and occupational levels similar to those of the Italian population of the same age range, but married less often, especially if NC onset occurred at a young age. Total annual NC-related costs were €9814 ± 10,372 per patient. Multivariate analyses showed that patients with NC onset before the age of 30 years had a higher educational level, married less frequently, and were less frequently unemployed or inactive (retired, housewife). Patients diagnosed before the age of 30 years were less frequently unemployed or inactive, had fewer work changes, and had a better general health perception. Irresistible sleepiness was associated with work absences and higher indirect costs. Depressive symptoms were strongly associated with lower quality-of-life scores. NC age at onset and at diagnosis modulates the disease-related burden. A diagnosis at a young age could improve patients' occupational prognosis, and their general health perception. Copyright © 2012 Elsevier B.V. All rights reserved.

  7. History, mechanisms and clinical value of fibrillation analyses in muscle denervation and reinnervation by Single Fiber Electromyography and Dynamic Echomyography

    Directory of Open Access Journals (Sweden)

    Amber Pond


    Full Text Available This work reviews history, current clinical relevance and future of fibrillation, a functional marker of skeletal muscle denervated fibers. Fibrillations, i.e., spontaneous contraction, in denervated muscle were first described during the nineteenth century. It is known that alterations in membrane potential are responsible for the phenomenon and that they are related to changes in electrophysiological factors, cellular metabolism, cell turnover and gene expression. They are known to inhibit muscle atrophy to some degree and are used to diagnose neural injury and reinnervation that are occurring in patients. Electromyography (EMG is useful in determining progress, prognosis and efficacy of therapeutic interventions and their eventual change. For patients with peripheral nerve injury, and thus without the option of volitional contractions, electrical muscle stimulation may be helpful in preserving the contractility and extensibility of denervated muscle tissue and in retarding/counteracting muscle atrophy. It is obvious from the paucity of recent literature that research in this area has declined over the years. This is likely a consequence of the decrease in funding available for research and the fact that the fibrillations do not appear to cause serious health issues. Nonetheless, further exploration of them as diagnostic tools in long-term denervation is merited, in particular if Single Fiber EMG (SFEMG is combined with Dynamic Echomyography (DyEM, an Ultra Sound muscle approach we recently designed and developed to explore denervated and reinnervating muscles.

  8. Natural history definition and a suggested clinical approach to Buerger's disease: a case-control study with survival analysis. (United States)

    Fazeli, Bahare; Ravari, Hassan; Assadi, Reza


    The aim of this study was first to describe the natural history of Buerger's disease (BD) and then to discuss a clinical approach to this disease based on multivariate analysis. One hundred eight patients who corresponded with Shionoya's criteria were selected from 2000 to 2007 for this study. Major amputation was considered the ultimate adverse event. Survival analyses were performed by Kaplan-Meier curves. Independent variables including gender, duration of smoking, number of cigarettes smoked per day, minor amputation events and type of treatments, were determined by multivariate Cox regression analysis. The recorded data demonstrated that BD may present in four forms, including relapsing-remitting (75%), secondary progressive (4.6%), primary progressive (14.2%) and benign BD (6.2%). Most of the amputations occurred due to relapses within the six years after diagnosis of BD. In multivariate analysis, duration of smoking of more than 20 years had a significant relationship with further major amputation among patients with BD. Smoking cessation programs with experienced psychotherapists are strongly recommended for those areas in which Buerger's disease is common. Patients who have smoked for more than 20 years should be encouraged to quit smoking, but should also be recommended for more advanced treatment for limb salvage.

  9. Hindlimb lameness and gait abnormalities in bitches with pyometra. (United States)

    Klainbart, S; Ranen, E; Glikman, G; Kelmer, E; Bdolah-Abram, T; Aroch, I


    The objective of this study was to assess the frequency of gait abnormalities and lameness (GAL) in bitches with pyometra, and their association with clinical and laboratory findings. The study included 79 bitches diagnosed with pyometra and 35 negative control intact bitches presented with other soft tissue surgical disorders. Dogs with a history of chronic lameness due to orthopaedic or neurological origin were excluded. A history of GAL was more frequent in the pyometra group (47 per cent) compared with the control group (20 per cent) (P=0.007). In the pyometra group, bitches presenting GAL had (Ppyometra, anorexia and vomiting, as well as higher serum creatinine concentration and muscle enzymes activity, compared with those in without GAL. GAL signs resolved postovariohysterectomy in all but one bitch. The results suggest that GAL signs occur frequently in bitches with pyometra, especially in closed-cervix disease. Therefore, pyometra should be considered among the differential diagnoses when GAL occurs, especially when the clinical signs are non-specific and the reproductive history is unclear. British Veterinary Association.

  10. Polymyalgia rheumatica and type 2 diabetes mellitus complicated with electromyographic abnormalities that responded well to corticosteroid therapy. (United States)

    Miura, J; Kwaguchi, Y; Tanaka, Y; Ishii, A; Iwasaki, N; Takahashi, Y; Iwamoto, Y


    A 62-year-old man who had a 14-year history of diabetes complained of low-grade fever, general malaise, pain of bilateral femurs and hip girdle, and was adniitted to our hospital. The diagnosis of polymyalgia rheumatica (PMR) was made from the clinical symptoms, elevated C-reactive protein and erythrocyte sedimentation rate. Electromyography revealed abnormalities that suggested diabetic peripheral neuropathy. However, the abnormalities were improved after starting treatment with corticosteroids (PSL). After stopping PSL, electric nerve conduction disturbance developed; therefore, it was suggested that peripheral nerve involvement due to PMR was improved by administration of PSL regardless of the existence of diabetic peripheral neuropathy.

  11. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. (United States)

    Kearney, Hutton M; South, Sarah T; Wolff, Daynna J; Lamb, Allen; Hamosh, Ada; Rao, Kathleen W


    Genomic copy number microarrays have significantly increased the diagnostic yield over a karyotype for clinically significant imbalances in individuals with developmental delay, intellectual disability, multiple congenital anomalies, and autism, and they are now accepted as a first tier diagnostic test for these indications. As it is not feasible to validate microarray technology that targets the entire genome in the same manner as an assay that targets a specific gene or syndromic region, a new paradigm of validation and regulation is needed to regulate this important diagnostic technology. We suggest that these microarray platforms be evaluated and manufacturers regulated for the ability to accurately measure copy number gains or losses in DNA (analytical validation) and that the subsequent interpretation of the findings and assignment of clinical significance be determined by medical professionals with appropriate training and certification. To this end, the American College of Medical Genetics, as the professional organization of board-certified clinical laboratory geneticists, herein outlines recommendations for the design and performance expectations for clinical genomic copy number microarrays and associated software intended for use in the postnatal setting for detection of constitutional abnormalities.

  12. Inter-observer agreement in clinical decision-making for abnormal cardiotocogram (CTG) during labour: a comparison between CTG and CTG plus STAN. (United States)

    Vayssière, C; Tsatsaris, V; Pirrello, O; Cristini, C; Arnaud, C; Goffinet, F


    To compare inter-observer agreement for clinical decision-making with cardiotocography (CTG) and combined CTG with ST-segment analysis (STAN). Experimental study. Three hospital obstetrics departments in France. Thirty randomly selected nonreassuring CTG recordings during labour of women with singleton term pregnancies in cephalic position. Seven obstetricians independently assessed the tracings, displayed in a random order on their computers, on two separate sessions, the first without and the second with STAN information. The observers received clinical information about the labour as the tracings continued and were asked whether they would intervene. For analysis, we considered that intervention was justified for the neonates with pH 7.10 after spontaneous delivery. Kappa values and rates of inter-observer agreement for intervention and for nonintervention. Kappa for inter-observer agreement was 0.50 (0.29-0.69) with CTG, and 0.67 (0.48-0.81) with CTG + STAN. The rate of inter-observer agreement for the decision to intervene was 73% (68-77%) with CTG and 70% (66-75%) with CTG + STAN (P = 0.4), and for the nonintervention decision it was 48% (42-54%) and 69% (64-74%), respectively (P CTG and 85% (80-90%) with CTG + STAN (P CTG and 84% (79-89%) with CTG + STAN (P CTG, ST analysis may improve consistency in clinical decision-making and decrease unnecessary interventions, but may also lead on rare occasions to unjustified decisions not to intervene.

  13. Pattern recognition in paediatric ecgs: the hidden secrets to clinical ...

    African Journals Online (AJOL)

    In general, medical practitioners (and paediatricians in particular) are trained to recognise common patterns of abnormalities in order to derive clues to disease diagnosis. This is typical of most clinical settings, especially in history taking and clinical examination, but also for investigations such as X-rays and common routine ...

  14. Association of parental history of type 2 diabetes with age, lifestyle, anthropometric factors, and clinical severity at type 2 diabetes diagnosis

    DEFF Research Database (Denmark)

    Svensson, Elisabeth; Berencsi, Klara; Sander, Simone


    BACKGROUND: We investigated whether parental history of type 2 diabetes mellitus (T2D) is associated with age, lifestyle, anthropometric factors, and clinical severity at the time of T2D diagnosis. METHODS: We conducted a cross-sectional study based on the Danish Centre for Strategic Research in ...

  15. Comparison of Patient Health History Questionnaires Used in General Internal and Family Medicine, Integrative Medicine, and Complementary and Alternative Medicine Clinics. (United States)

    Laube, Justin G R; Shapiro, Martin F


    Health history questionnaires (HHQs) are a set of self-administered questions completed by patients prior to a clinical encounter. Despite widespread use, minimal research has evaluated the content of HHQs used in general internal medicine and family medicine (GIM/FM), integrative medicine, and complementary and alternative medicine (CAM; chiropractic, naturopathic, and Traditional Chinese Medicine [TCM]) clinics. Integrative medicine and CAM claim greater emphasis on well-being than does GIM/FM. This study investigated whether integrative medicine and CAM clinics' HHQs include more well-being content and otherwise differ from GIM/FM HHQs. HHQs were obtained from GIM/FM (n = 9), integrative medicine (n = 11), naturopathic medicine (n = 5), chiropractic (n = 4), and TCM (n = 7) clinics in California. HHQs were coded for presence of medical history (chief complaint, past medical history, social history, family history, surgeries, hospitalizations, medications, allergies, review of systems), health maintenance procedures (immunization, screenings), and well-being components (nutrition, exercise, stress, sleep, spirituality). In HHQs of GIM/FM clinics, the average number of well-being components was 1.4 (standard deviation [SD], 1.4) compared with 4.0 (SD, 1.1) for integrative medicine (p medicine (p = 0.04), 2.0 (SD, 1.4) for chiropractic (p = 0.54), and 2.0 (SD, 1.5) for TCM (p = 0.47). In HHQs of GIM/FM clinics, the average number of medical history components was 6.4 (SD, 1.9) compared with 8.3 (SD, 1.2) for integrative medicine (p = 0.01), 9.0 (SD, 0) for naturopathic medicine (p = 0.01), 7.1 (SD, 2.8) for chiropractic (p = 0.58), and 7.1 (SD, 1.7) for TCM (p = 0.41). Integrative and naturopathic medicine HHQs included significantly more well-being and medical history components than did GIM/FM HHQs. Further investigation is warranted to determine the optimal HHQ content to support the clinical and preventive

  16. Normal and abnormal skin color. (United States)

    Ortonne, J P


    The varieties of normal skin color in humans range from people of "no color" (pale white) to "people of color" (light brown, dark brown, and black). Skin color is a blend resulting from the skin chromophores red (oxyhaemoglobin), blue (deoxygenated haemoglobin), yellow-orange (carotene, an exogenous pigment), and brown (melanin). Melanin, however, is the major component of skin color ; it is the presence or absence of melanin in the melanosomes in melanocytes and melanin in keratinocytes that is responsible for epidermal pigmentation, and the presence of melanin in macrophages or melanocytes in the dermis that is responsible for dermal pigmentation. Two groups of pigmentary disorders are commonly distinguished: the disorders of the quantitative and qualitative distribution of normal pigment and the abnormal presence of exogenous or endogenous pigments in the skin. The first group includes hyperpigmentations, which clinically manifest by darkening of the skin color, and leukodermia, which is characterized by lightening of the skin. Hypermelanosis corresponds to an overload of melanin or an abnormal distribution of melanin in the skin. Depending on the color, melanodermia (brown/black) and ceruloderma (blue/grey) are distinguished. Melanodermia correspond to epidermal hypermelanocytosis (an increased number of melanocytes) or epidermal hypermelanosis (an increase in the quantity of melanin in the epidermis with no modification of the number of melanocytes). Ceruloderma corresponds to dermal hypermelanocytosis (abnormal presence in the dermis of cells synthesizing melanins) ; leakage in the dermis of epidermal melanin also exists, a form of dermal hypermelanosis called pigmentary incontinence. Finally, dyschromia can be related to the abnormal presence in the skin of a pigment of exogenous or endogenous origin. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  17. [Normal and abnormal skin color]. (United States)

    Ortonne, J-P


    The varieties of normal skin color in humans range from people of "no color" (pale white) to "people of color" (light brown, dark brown, and black). Skin color is a blend resulting from the skin chromophores red (oxyhaemoglobin), blue (deoxygenated haemoglobin), yellow-orange (carotene, an exogenous pigment), and brown (melanin). Melanin, however, is the major component of skin color ; it is the presence or absence of melanin in the melanosomes in melanocytes and melanin in keratinocytes that is responsible for epidermal pigmentation, and the presence of melanin in macrophages or melanocytes in the dermis that is responsible for dermal pigmentation. Two groups of pigmentary disorders are commonly distinguished: the disorders of the quantitative and qualitative distribution of normal pigment and the abnormal presence of exogenous or endogenous pigments in the skin. The first group includes hyperpigmentations, which clinically manifest by darkening of the skin color, and leukodermia, which is characterized by lightening of the skin. Hypermelanosis corresponds to an overload of melanin or an abnormal distribution of melanin in the skin. Depending on the color, melanodermia (brown/black) and ceruloderma (blue/grey) are distinguished. Melanodermia correspond to epidermal hypermelanocytosis (an increased number of melanocytes) or epidermal hypermelanosis (an increase in the quantity of melanin in the epidermis with no modification of the number of melanocytes). Ceruloderma correspond to dermal hypermelanocytosis (abnormal presence in the dermis of cells synthesizing melanins) ; leakage in the dermis of epidermal melanin also exists, a form of dermal hypermelanosis called pigmentary incontinence. Finally, dyschromia can be related to the abnormal presence in the skin of a pigment of exogenous or endogenous origin. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  18. Lower Extremity Abnormalities in Children. (United States)

    Rerucha, Caitlyn M; Dickison, Caleb; Baird, Drew C


    Leg and foot problems in childhood are common causes of parental concern. Rotational problems include intoeing and out-toeing. Intoeing is most common in infants and young children. Intoeing is caused by metatarsus adductus, internal tibial torsion, and femoral anteversion. Out-toeing is less common than intoeing and occurs more often in older children. Out-toeing is caused by external tibial torsion and femoral retroversion. Angular problems include genu varum (bowleg) and genu valgum (knock knee). With pes planus (flatfoot), the arch of the foot is usually flexible rather than rigid. A history and physical examination that include torsional profile tests and angular measurements are usually sufficient to evaluate patients with lower extremity abnormalities. Most children who present with lower extremity problems have normal rotational and angular findings (i.e., within two standard deviations of the mean). Lower extremity abnormalities that are within normal measurements resolve spontaneously as the child grows. Radiologic studies are not routinely required, except to exclude pathologic conditions. Orthotics are not beneficial. Orthopedic referral is often not necessary. Rarely, surgery is required in patients older than eight years who have severe deformities that cause dysfunction.

  19. Prevalence of Vector-Borne Pathogens in Southern California Dogs With Clinical and Laboratory Abnormalities Consistent With Immune-Mediated Disease. (United States)

    Kidd, L; Qurollo, B; Lappin, M; Richter, K; Hart, J R; Hill, S; Osmond, C; Breitschwerdt, E B


    Studies investigating the prevalence of vector-borne pathogens in southern California dogs are limited. Occult infections might be misdiagnosed as idiopathic immune-mediated disease. (1) To determine the prevalence of vector-borne pathogens in southern California dogs with compatible clinical findings using PCR and serologic panels and (2) to determine whether testing convalescent samples and repeating PCR on acute samples using the same and different gene targets enhance detection. Forty-two client-owned dogs with clinical signs of vector-borne disease presenting to specialty practices in San Diego County. Combined prospective and retrospective observational study. Forty-two acute and 27 convalescent samples were collected. Acute samples were prospectively tested for antibodies to Rickettsia, Ehrlichia, Bartonella, Babesia, Borrelia, and Anaplasma species. PCR targeting Ehrlichia, Babesia, Anaplasma, hemotropic Mycoplasma, and Bartonella species was also performed. Retrospectively, convalescent samples were tested for the same organisms using serology, and for Ehrlichia, Babesia, Anaplasma, and Bartonella species using PCR. Acute samples were retested using PCR targeting Ehrlichia and Babesia species. Evidence of exposure to or infection with a vector-borne pathogen was detected in 33% (14/42) of dogs. Ehrlichia and Babesia species were most common; each was identified in 5 dogs. Convalescent serologic testing, repeating PCR, and using novel PCR gene targets increased detection by 30%. Repeated testing using serology and PCR enhances detection of infection by vector-borne pathogens in dogs with clinical signs of immune-mediated disease. Larger prevalence studies of emerging vector-borne pathogens in southern California dogs are warranted. Copyright © 2017 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

  20. High-resolution computed tomography and rheumatoid arthritis: semi-quantitative evaluation of lung damage and its correlation with clinical and functional abnormalities. (United States)

    Yilmazer, Baris; Gümüştaş, Sevtap; Coşan, Fulya; İnan, Nagihan; Ensaroğlu, Fatih; Erbağ, Gökhan; Yıldız, Füsun; Çefle, Ayşe


    We aimed to establish risk factors for radiological lung damage associated with rheumatoid arthritis (RA) and determine whether clinical findings and pulmonary function test were correlated with Warrick score calculated on the basis of high-resolution computed tomography or not. One hundred thirty RA patients who were followed at rheumatology outpatient clinic were included through retrospective screening. To evaluate radiological involvement, the semi-quantitative evaluation proposed by Warrick was used to assign a score for each lesion based on the severity and extent of the pulmonary damage. In addition to the total score, indices for alveolitis and fibrosis were created. The correlations between each score and clinical and functional parameters were tested for all patients. We showed that age was an independent explanatory variable of radiological lung damage. Percentage of predicted lung diffusion capacity for carbon monoxide (DLco) below 75 % and presence of respiratory symptoms were found to contribute more to radiological lung damage. Warrick score was positively correlated with age at study onset (r = 0.43, p < 0.001). In addition, a negative correlation was found between Warrick score and DLco % predicted (r = -0.357, p = 0.001). Alveolitis index was negatively correlated with DLco % predicted (r = -0.321, p = 0.003). It is considered that this semi-quantitative method may have added value in early diagnosis, appropriate treatment decisions and follow-up when taken into account together with risk factors associated with pulmonary damage in RA.

  1. Clinical Trial with Sodium 99mTc-Pertechnetate Produced by a Medium-Energy Cyclotron: Biodistribution and Safety Assessment in Patients with Abnormal Thyroid Function. (United States)

    Selivanova, Svetlana V; Lavallée, Éric; Senta, Helena; Caouette, Lyne; McEwan, Alexander J B; Guérin, Brigitte; Lecomte, Roger; Turcotte, Éric


    A single-site prospective open-label clinical study with cyclotron-produced sodium 99mTc-pertechnetate (99mTc-NaTcO4) was performed in patients with indications for a thyroid scan to demonstrate the clinical safety and diagnostic efficacy of the drug and to confirm its equivalence with conventional 99mTc-NaTcO4 eluted from a generator. Methods:99mTc-NaTcO4 was produced from enriched 100Mo (99.815%) with a cyclotron (24 MeV; 2 h of irradiation) or supplied by a commercial manufacturer (bulk vial eluted from a generator). Eleven patients received 325 ± 29 (mean ± SD) MBq of the cyclotron-produced 99mTc-NaTcO4, whereas the age- and sex-matched controls received a comparable amount of the generator-derived tracer. Whole-body and thyroid planar images were obtained for each participant. In addition to the standard-energy window (140.5 keV ± 7.5%), data were acquired in lower-energy (117 keV ± 10%) and higher-energy (170 keV ± 10%) windows. Vital signs and hematologic and biochemical parameters were monitored before and after tracer administration. Results: Cyclotron-produced 99mTc-NaTcO4 showed organ and whole-body distributions identical to those of conventional 99mTc-NaTcO4 and was well tolerated. All images led to a clear final diagnosis. The fact that the number of counts in the higher-energy window was significantly higher for cyclotron-produced 99mTc-NaTcO4 did not influence image quality in the standard-energy window. Image definition in the standard-energy window with cyclotron-produced 99mTc was equivalent to that with generator-eluted 99mTc and had no particular features allowing discrimination between the 99mTc production methods. Conclusion: The systemic distribution, clinical safety, and imaging efficacy of cyclotron-produced 99mTc-NaTcO4 in humans provide supporting evidence for the use of this tracer as an equivalent for generator-eluted 99mTc-NaTcO4 in routine clinical practice. © 2017 by the Society of Nuclear Medicine and Molecular Imaging.

  2. Free and cued memory in relation to biomarker-defined abnormalities in clinically normal older adults and those at risk for Alzheimer's disease. (United States)

    Papp, Kathryn V; Amariglio, Rebecca E; Mormino, Elizabeth C; Hedden, Trey; Dekhytar, Maria; Johnson, Keith A; Sperling, Reisa A; Rentz, Dorene M


    Furthering our understanding of the relationship between amyloidosis (Aβ), neurodegeneration (ND), and cognition is imperative for early identification and early intervention of Alzheimer's disease (AD). However, the subtle cognitive decline differentially associated with each biomarker-defined stage of preclinical AD has yet to be fully characterized. Recent work indicates that different components of memory performance (free and cued recall) may be differentially specific to memory decline in prodromal AD. We sought to examine the relationship between free and cued recall paradigms, in addition to global composites of memory, executive functioning, and processing speed in relation to stages of preclinical AD. A total of 260 clinically normal (CN) older adults (CDR=0) from the Harvard Aging Brain study were grouped according to preclinical AD stages including Stage 0 (Aβ-/ND-), Stage 1 (Aβ+/ND-), Stage 2 (Aβ+/ND+), and suspected non-Alzheimer's associated pathology (SNAP; Aβ-/ND+). General linear models controlling for age, sex, and education were used to assess for stage-based performance differences on cognitive composites of executive functioning, processing speed, and memory in addition to free and cued delayed recall on the Selective Reminding Test (SRT) and Memory Capacity Test (MCT). Global memory performance differed between preclinical stages with Stage 2 performing worse compared with Stage 0. When examining free and cued paradigms by memory test, only the MCT (and not the SRT) revealed group differences. More specifically, Stage 1 was associated with decrements in free recall compared with Stage 0 while Stage 2 was associated with decrements in both free and cued recall. There was a trend for the SNAP group to perform worse on free recall compared with Stage 0. Finally, there was no association between preclinical stage and global composites of executive functioning or processing speed. Clinically normal older adults with underlying evidence of

  3. Abnormal Brain Activation During Inhibition and Error Detection in Medication-Naive Adolescents With ADHD

    National Research Council Canada - National Science Library

    Rubia, Katya; Smith, Anna B; Brammer, Michael J; Toone, Brian; Taylor, Eric


    OBJECTIVE: Patients with attention deficit hyperactivity disorder (ADHD) and a medication history have shown abnormal brain activation in prefrontal and striatal brain regions during cognitive challenge...

  4. Natural history and clinical outcome of "uncorrected" scimitar syndrome patients: a multicenter study of the italian society of pediatric cardiology. (United States)

    Vida, Vladimiro L; Padrini, Maddalena; Boccuzzo, Giovanna; Agnoletti, Gabriella; Bondanza, Sara; Butera, Gianfranco; Chiappa, Enrico; Marasini, Maurizio; Pilati, Mara; Pongiglione, Giacomo; Prandstraller, Daniela; Russo, Maria Giovanna; Castaldi, Biagio; Santoro, Giuseppe; Spadoni, Isabella; Stellin, Giovanni; Milanesi, Ornella


    To analyze the clinical status of patients with "uncorrected" scimitar syndrome in a multicenter Italian study. The natural history of scimitar syndrome was analyzed in 44 affected individuals (from 9 Italian centers). The median age at diagnosis was 1.05 years (range, 1 day-41 years). Thirty-three patients (75%) had an isolated form; 11 patients (25%) had associated congenital heart diseases. Twenty-two patients (50%) were symptomatic at diagnosis, including respiratory symptoms (n=20) and congestive heart failure (n=6). Patients with associated congenital heart defects had a higher prevalence of congestive heart failure (4 of 11 [36.4%] vs 2 of 33 [6.1%]; P=.027), pulmonary arterial hypertension (7 of 11 [63.6%] vs 2 of 33 [6.1%]; P=.027) than patients with isolated forms. Ten patients (22.7%) underwent correction of associated cardiac defects, leaving the anomalous pulmonary venous drainage intact. The median length of follow-up after diagnosis was 6.4 years (range, 0.2-27.5 years). Two patients died, both with associated cardiac defects and severe pulmonary arterial hypertension. Of 42 survivors, 39 (92.8%) were asymptomatic at the last follow-up visit; 3 patients still complained respiratory symptoms. There was no difference between isolated and associated forms of the disease. In most patients, scimitar syndrome presented as an isolated lesion with a benign outcome. Nonetheless, when associated with other cardiac defects and pulmonary arterial hypertension, there was an increased risk of congestive heart failure and mortality. Correction of associated cardiac defects (transforming "associated" into "isolated" forms), together with the therapeutic occlusion of anomalous arterial supply to the lung, led to a benign outcome comparable to that in primarily isolated forms. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

  5. Approach to Investigating Congenital Skeletal Abnormalities in Livestock. (United States)

    Dittmer, K E; Thompson, K G


    Congenital skeletal abnormalities may be genetic, teratogenic, or nutritional in origin; distinguishing among these different causes is essential in the management of the disease but may be challenging. In some cases, teratogenic or nutritional causes of skeletal abnormalities may appear very similar to genetic causes. For example, chondrodysplasia associated with intrauterine zinc or manganese deficiency and mild forms of hereditary chondrodysplasia have very similar clinical features and histologic lesions. Therefore, historical data are essential in any attempt to distinguish genetic and acquired causes of skeletal lesions; as many animals as possible should be examined; and samples should be collected for future analysis, such as genetic testing. Acquired causes of defects often show substantial variation in presentation and may improve with time, while genetic causes frequently have a consistent presentation. If a disease is determined to be of genetic origin, a number of approaches may be used to detect mutations, each with advantages and disadvantages. These approaches include sequencing candidate genes, single-nucleotide polymorphism array with genomewide association studies, and exome or whole genome sequencing. Despite advances in technology and increased cost-effectiveness of these techniques, a good clinical history and description of the pathology and a reliable diagnosis are still key components of any investigation. © The Author(s) 2015.

  6. The natural history of left ventricular geometry in the community: clinical correlates and prognostic significance of change in LV geometric pattern. (United States)

    Lieb, Wolfgang; Gona, Philimon; Larson, Martin G; Aragam, Jayashri; Zile, Michael R; Cheng, Susan; Benjamin, Emelia J; Vasan, Ramachandran S


    This study sought to evaluate pattern and clinical correlates of change in left ventricular (LV) geometry over a 4-year period in the community; it also assessed whether the pattern of change in LV geometry over 4 years predicts incident cardiovascular disease (CVD), including myocardial infarction, heart failure, and cardiovascular death, during an additional subsequent follow-up period. It is unclear how LV geometric patterns change over time and whether changes in LV geometry have prognostic significance. This study evaluated 4,492 observations (2,604 unique Framingham Heart Study participants attending consecutive examinations) to categorize LV geometry at baseline and after 4 years. Four groups were defined on the basis of the sex-specific distributions of left ventricular mass (LVM) and relative wall thickness (RWT) (normal: LVM and RWT geometry or concentric remodeling progressed infrequently (4% to 8%) to eccentric or concentric hypertrophy. Change from eccentric to concentric hypertrophy was uncommon (8%). Among participants with concentric hypertrophy, 19% developed eccentric hypertrophy within the 4-year period. Among participants with abnormal LV geometry at baseline, a significant proportion (29% to 53%) reverted to normal geometry within 4 years. Higher blood pressure, greater body mass index (BMI), advancing age, and male sex were key correlates of developing an abnormal geometry. Development of an abnormal LV geometric pattern over 4 years was associated with increased CVD risk (140 events) during a subsequent median follow-up of 12 years (adjusted-hazards ratio: 1.59; 95% confidence interval: 1.04 to 2.43). The longitudinal observations in the community suggest that dynamic changes in LV geometric pattern over time are common. Higher blood pressure and greater BMI are modifiable factors associated with the development of abnormal LV geometry, and such progression portends an adverse prognosis. Copyright © 2014 American College of Cardiology

  7. Diabetes mellitus and abnormal glucose tolerance development after gestational diabetes: A three-year, prospective, randomized, clinical-based, Mediterranean lifestyle interventional study with parallel groups. (United States)

    Pérez-Ferre, Natalia; Del Valle, Laura; Torrejón, Maria José; Barca, Idoya; Calvo, María Isabel; Matía, Pilar; Rubio, Miguel A; Calle-Pascual, Alfonso L


    Women with prior gestational diabetes mellitus (GDM) have a high risk of developing type 2 diabetes mellitus (DM2) in later life. The study aim was to evaluate the efficacy of a lifestyle intervention for the prevention of glucose disorders (impaired fasting glucose, impaired glucose tolerance or DM2) in women with prior GDM. A total of 260 women with prior GDM who presented with normal fasting plasma glucose at six to twelve weeks postpartum were randomized into two groups: a Mediterranean lifestyle intervention group (n = 130) who underwent an educational program on nutrition and a monitored physical activity program and a control group (n = 130) with a conventional follow-up. A total of 237 women completed the three-year follow-up (126 in the intervention group and 111 in the control group). Their glucose disorders rates, clinical and metabolic changes and rates of adherence to the Mediterranean lifestyle were analyzed. Less women in the intervention group (42.8%) developed glucose disorders at the end of the three-year follow-up period compared with the control group (56.75%), p < 0.05. The multivariate analysis indicated a reduction in the rate of glucose disorders with a BMI of less than 27 kg/m(2) (OR 0.28; 0.12-0.65; p < 0.003), low fat intake pattern (OR 0.30; 0.13-0.70; p < 0.005), low saturated fat pattern (OR 0.30; 0.13-0.69; p < 0.005) and healthy fat pattern (OR 0.34; 0.12-0.94; p < 0.04). Lifestyle intervention was effective for the prevention of glucose disorders in women with prior GDM. Body weight gain and an unhealthy fat intake pattern were found to be the most predictive factors for the development of glucose disorders. Current Controlled trials: ISRCTN24165302. Copyright © 2014 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

  8. Abnormal Head Position (United States)

    ... non-ocular causes of an abnormal head position? Congenital shortening of the neck muscles (sternocleidomastoid) can cause a head tilt. This is ... amblyopia) are other treatment alternatives. Physical therapy helps congenital torticollis from tight neck muscles. Updated ... Terms & Conditions Most Common ...

  9. Abnormal Blood Glucose as a Prognostic Factor for Adverse Clinical Outcome in Children Admitted to the Paediatric Emergency Unit at Komfo Anokye Teaching Hospital, Kumasi, Ghana

    Directory of Open Access Journals (Sweden)

    Emmanuel Ameyaw


    Full Text Available Dysglycaemia (hyper- or hypoglycaemia in critically ill children has been associated with poor outcome. We compared the clinical outcomes in children admitted to Pediatric Emergency Unit (PEU at Komfo Anokye Teaching Hospital (KATH for acute medical conditions and presenting with euglycaemia or dysglycaemia. This is a prospective case matching cohort study. Eight hundred subjects aged between 3 and 144 months were screened out of whom 430 (215 with euglycaemia and 215 with dysglycaemia were enrolled. The median age was 24 months (range: 3–144 months. In the dysglycaemia group, 28 (13% subjects had hypoglycemia and 187 (87% had hyperglycemia. Overall, there were 128 complications in 116 subjects. The number of subjects with complications was significantly higher in dysglycaemia group (n=99, 46% compared to euglycaemia group (n=17, 8% (P<0.001. Forty subjects died out of whom 30 had dysglycaemia (P=0.001. Subjects with dysglycaemia were 3 times (95% CI: 1.5–6.0 more likely to die and 4.8 times (95% CI: 3.1–7.5 more likely to develop complications (P=0.001. Dysglycaemia is associated with increased morbidity and mortality in children with acute medical conditions and should lead to intensive management of the underlying condition.

  10. Analysis of homeobox gene action may reveal novel angiogenic pathways in normal placental vasculature and in clinical pregnancy disorders associated with abnormal placental angiogenesis.

    Directory of Open Access Journals (Sweden)

    Padma eMurthi


    Full Text Available Homeobox genes are essential for both the development of the blood and lymphatic vascular systems, as well as for their maintenance in the adult. Homeobox genes comprise an important family of transcription factors, which are characterised by a well conserved DNA binding motif; the homeodomain. The specificity of the homeodomain allows the transcription factor to bind to the promoter regions of batteries of target genes and thereby regulates their expression. Target genes identified for homeodomain proteins have been shown to control fundamental cell processes such as proliferation, differentiation and apoptosis. We and others have reported that homeobox genes are expressed in the placental vasculature, but our knowledge of their downstream target genes is limited. This review highlights the importance of studying the cellular and molecular mechanisms by which homeobox genes and their downstream targets may regulate important vascular cellular processes such as proliferation, migration, and endothelial tube formation, which are essential for placental vasculogenesis and angiogenesis. A better understanding of the molecular targets of homeobox genes may lead to new therapies for aberrant angiogenesis associated with clinically important pregnancy pathologies, including fetal growth restriction and preeclampsia.

  11. Prevalence of asymptomatic urinary abnormalities among adolescents

    Directory of Open Access Journals (Sweden)

    Mohamed Fouad


    Full Text Available To determine the prevalence of asymptomatic urinary abnormalities in adolescents, first morning clean mid-stream urine specimens were obtained from 2500 individuals and examined by dipstick and light microscopy. Adolescents with abnormal screening results were reexamined after two weeks and those who had abnormal results twice were subjected to systemic clinical examination and further clinical and laboratory investigations. Eight hundred and three (32.1% individuals had urinary abnormalities at the first screening, which significantly decreased to 345 (13.8% at the second screening, (P <0.001. Hematuria was the most common urinary abnormalities detected in 245 (9.8% adolescents who had persistent urine abnormalities; 228 (9.1% individuals had non glomerular hematuria. The hematuria was isolated in 150 (6% individuals, combined with leukocyturia in 83 (3.3% individuals, and combined with proteinuria in 12 (0.5% individuals. Leukocyturia was detected in 150 (6% of all studied adolescents; it was isolated in 39 (1.6% individuals and combined with proteinuria in 28 (1.1% of them. Asymp- tomatic bacteriuria was detected in 23 (0.9% of all studied adolescents; all the cases were females. Proteinuria was detected in 65 (2.6% of all the studied adolescents; 45 (1.8% indivi- duals had <0.5 g/day and twenty (0.8% individuals had 0.5-3 g/day. Asymptomatic urinary abnormalities were more common in males than females and adolescents from rural than urban areas (P <0.01 and (P <0.001, respectively. The present study found a high prevalence of asymptomatic urinary abnormalities among adolescents in our population.

  12. Syringomyelia and Craniocervical Junction Abnormalities in Chihuahuas. (United States)

    Kiviranta, A-M; Rusbridge, C; Laitinen-Vapaavuori, O; Hielm-Björkman, A; Lappalainen, A K; Knowler, S P; Jokinen, T S


    Chiari-like malformation (CM) and syringomyelia (SM) are widely reported in Cavalier King Charles Spaniels and Griffon Bruxellois dogs. Increasing evidence indicates that CM and SM also occur in other small and toy breed dogs, such as Chihuahuas. To describe the presence of SM and craniocervical junction (CCJ) abnormalities in Chihuahuas and to evaluate the possible association of CCJ abnormalities with SM. To describe CM/SM-related clinical signs and neurologic deficits and to investigate the association of CM/SM-related clinical signs with signalment, SM, or CCJ abnormalities. Fifty-three client-owned Chihuahuas. Prospective study. Questionnaire analyses and physical and neurologic examinations were obtained before magnetic resonance and computed tomography imaging. Images were evaluated for the presence of SM, CM, and atlantooccipital overlapping. Additionally, medullary kinking, dorsal spinal cord compression, and their sum indices were calculated. Scratching was the most common CM/SM-related clinical sign and decreased postural reaction the most common neurologic deficit in 73 and 87% of dogs, respectively. Chiari-like malformation and SM were present in 100 and 38% of dogs, respectively. Syringomyelia was associated with the presence of CM/SM-related clinical signs (P = 0.034), and medullary kinking and sum indices were higher in dogs with clinical signs (P = 0.016 and P = 0.007, respectively). Syringomyelia and CCJ abnormalities are prevalent in Chihuahuas. Syringomyelia was an important factor for the presence of CM/SM-related clinical signs, but many dogs suffered from similar clinical signs without being affected by SM, highlighting the clinical importance of CCJ abnormalities in Chihuahuas. Copyright © 2017 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

  13. Chromosomal abnormalities in patients with sperm disorders

    Directory of Open Access Journals (Sweden)

    L. Y. Pylyp


    Full Text Available Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6% patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19, followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9. The frequency of inversions was 0.6% (n = 4. Gonosomal abnormalities included 14 cases

  14. Abnormal peri-operative haemorrhage in asymptomatic patients is ...

    African Journals Online (AJOL)

    Accordingly, we undertook two studies to detertnine whether it could be justified in patients without a history of abnormal bleeding. In the first of these, 45 of 159 patients were excluded because of aspirin ingestion and a further 3 because of positive bleeding history so that prothrombin time, activated partial thromboplastin ...

  15. Stowaways in the history of science: the case of simian virus 40 and clinical research on federal prisoners at the US National Institutes of Health, 1960. (United States)

    Stark, Laura; Campbell, Nancy D


    In 1960, J. Anthony Morris, a molecular biologist at the US National Institutes of Health conducted one of the only non-therapeutic clinical studies of the cancer virus SV40. Morris and his research team aimed to determine whether SV40 was a serious harm to human health, since many scientists at the time suspected that SV40 caused cancer in humans based on evidence from in vivo animal studies and experiments with human tissue. Morris found that SV40 had no significant effect but his claim has remained controversial among scientists and policymakers through the present day--both on scientific and ethical grounds. Why did Morris only conduct one clinical study on the cancer-causing potential of SV40 in healthy humans? We use the case to explain how empirical evidence and ethical imperatives are, paradoxically, often dependent on each other and mutually exclusive in clinical research, which leaves answers to scientific and ethical questions unsettled. This paper serves two goals: first, it documents a unique--and uniquely important--study of clinical research on SV40. Second, it introduces the concept of "the stowaway," which is a special type of contaminant that changes the past in the present moment. In the history of science, stowaways are misfortunes that nonetheless afford research that otherwise would have been impossible specifically by creating new pasts. This case (Morris' study) and concept (the stowaway) bring together history of science and philosophy of history for productive dialog. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. [Contribution of the Vishnevsky Central Military Clinical Hospital N 3 to the history of combat casualty care and delivery of care to the injured soldiers]. (United States)

    Beliakin, S A; Dolgikh, R N; Fokin, Iu N


    The article is dedicated to the 45-year history of combat casualty care in the Vishnevsky Central Military Clinical Hospital N 3. In the echelon system of medical care the Vishnevsky Central Military Clinical Hospital N 3 ranks the echelon (level) N 3. Specialists of the hospital, along with a medical and preventive activity, practice methodological, educational and innovative activity, participate in different scientific forums. Temporary duty assignment to the combat, human-made disaster and natural disaster areas is a real functional test. 64 physicians have an extreme situation experience. The Vishnevsky Central Military Clinical Hospital N 3 is a clinical base of department of surgery, advanced physician training department, combat casualty care department of the Institute for advanced physician training of Mandryka scientific and educational clinical center. For the purpose of reducing the terms and improving the quality of medical care it was suggested to make the integration connections with leading hospitals of the Ministry of Defense of the Russian Federation.

  17. Clinical predictors of abnormal esophageal pH monitoring in preterm infants Preditores clínicos para pHmetria esofágica anormal em prematuros

    Directory of Open Access Journals (Sweden)

    Maria Aparecida Mezzacappa


    Full Text Available BACKGROUND: Risk factors for gastroesophageal reflux disease in preterm neonates have not been yet clearly defined. AIM: To identify factors associated with increased esophageal acid exposition in preterm infants during the stay in the neonatal unit. METHODS: A case-control study in preterm infants who had undergone prolonged monitoring of distal esophageal pH, following clinical indication. Eighty-seven preterms with reflux index (percentage of total time of esophageal pHmetry >10% (cases and 87 unpaired preterms were selected with reflux index 10% in preterms were: vomiting, regurgitation, Apnea, female gender. The variables that were associated with a lower frequency of increased reflux index were: volume of enteral intake at the onset of symptoms >147 mL/kg/day, and postnatal corticoid use. CONCLUSIONS: Vomiting, regurgitation, apnea, female gender and acute respiratory distress during the first week of life were variables predictive of increased esophageal acid exposition in preterm infants with birthweight 10%.RACIONAL: Os fatores de risco para a doença pelo refluxo gastroesofágico em recém-nascidos prematuros não foram, até momento, claramente estabelecidos. OBJETIVO: Identificar fatores associados ao aumento da exposição ácida intra-esofágica em prematuros durante o período de internação em unidade neonatal. MÉTODOS: Realizou-se estudo de caso controle com prematuros que realizaram monitorização prolongada do pH esofágico por suspeita clínica de doença do refluxo. Foram selecionados 87 recém-nascidos com valor do índice de refluxo (percentual do tempo total do exame com pH abaixo de 4 >10% (casos e 87 recém-nascidos com índice de refluxo 10% foram: vômitos, regurgitações, apnéia, sexo feminino e insuficiência respiratória na 1ª semana de vida. As variáveis que se associaram a menor freqüência de índice de refluxo 147mL/kg/d e uso de corticóide pós-natal. CONCLUSÕES: Vômitos, regurgitações, apn

  18. Children with Congenital Hypothyroidism Have Similar Neuroradiological Abnormal Findings as Healthy Ones

    Directory of Open Access Journals (Sweden)

    Marianna Rachmiel


    Full Text Available Objective. To assess the neuroradiological findings of children with congenital hypothyroidism (CHT compared to healthy controls (HC. Patients and Methods. Thirty children with CHT, mean age 12.5 ± 1.6 years, 14 (44.8% males, were compared with 38 HC mean age 11.7 ± 1.7 years, 16 (45.7% males. Clinical data were collected from medical charts and questionnaires seeking information on family history, birth and perinatal period events, medications, and overall health history. Neurocognitive function was assessed for global intelligence, visual and verbal memory, and executive functioning using standardized tests. Neuroimaging was performed using 1.5 T magnetic resonance imaging and assessed by two pediatric radiologists. Results. Children with CHT had a similar proportion of incidental findings as did the children in the HC group, at 43.3% and 39.5%, respectively, . Abnormalities of the sellar region were reported in 13.3% of CHT group and 7.9% of HC group, . Other incidental findings included cerebellar ectopia, choroidal fissure and pineal cysts, and multiple increased signal intensity foci. Neuroradiological findings were not associated with clinical and neurocognitive abnormalities. Conclusion. Neuroimaging of children with CHT demonstrated a similar incidence of structural abnormalities as in the healthy population. There is no association between those findings and neurocognitive function.

  19. [Liver enzyme abnormalities among oil refinery workers]. (United States)

    Carvalho, Fernando Martins; Silvany Neto, Annibal Muniz; Mendes, João Luiz Barberino; Cotrim, Helma Pinchemel; Nascimento, Ana Lísia Cunha; Lima Júnior, Alberto Soares; Cunha, Tatiana Oliveira Bernardo da


    Occupational exposure typical of an oil refinery may alter liver function among the workers. Thus, the objective of the study was to identify risk factors for liver enzyme abnormalities among oil refinery workers. The workers at an oil refinery in Northeastern Brazil underwent routine annual medical examination from 1982 to 1998. This case-control study investigated all the 150 cases of individuals with simultaneous gamma-glutamyltransferase and alanine aminotransferase abnormalities of at least 10% above reference levels. As controls, 150 workers without any liver enzyme or bilirubin abnormalities since starting to work there were selected. Odds ratios and the respective 95% confidence intervals were calculated from logistic regression models. In all the production sectors, the risk of liver enzyme abnormalities was significantly higher than in the administrative sector (OR=5.7; 95% CI: 1.7-18.4), even when the effects of alcohol, obesity and medical history of hepatitis were controlled for. During the period from 1992 to 1994, 88 out of the 89 cases occurred among workers from the various production sectors. Occupational exposure plays an important role in causing liver enzyme abnormalities among oil refinery workers. This is in addition to the specifically biological and/or behavioral risk factors such as obesity and alcohol consumption.

  20. Anal human papillomavirus infection and abnormal anal cytology in women with genital neoplasia. (United States)

    Park, Ina U; Ogilvie, James W; Anderson, Kristin E; Li, Zhong-ze; Darrah, Lindsay; Madoff, Robert; Downs, Levi


    Describe the type-specific prevalence of anal HPV infection in women with lower genital tract intraepithelial neoplasia and cancer. Describe the prevalence of abnormal anal cytology and identify risk factors for anal HPV infection and abnormal anal cytology in this population. We performed a cross-sectional study of women attending 2 university-based colposcopy clinics with high-grade lower genital tract intraepithelial neoplasia or cancer. Participants received anal HPV testing/typing, anal cytology and completed a questionnaire detailing medical history and sexual behavior. Of the 102 women enrolled, 92 (90%) had adequate beta-globin for analysis of HPV DNA status, and 47/92 women (51%) had detectable anal HPV. Of the 15 HPV types identified, 9 (60%) were oncogenic types and 6 (40%) were non-oncogenic or undetermined risk types. Overall, 9 women (9%) had abnormal anal cytology, and 7 of those had corresponding anal intraepithelial neoplasia grade I (AIN I). Women with vulvar disease had the highest proportion of abnormal anal cytology (21%) compared to women with cervical disease alone (7%), but this difference was not statistically significant (p=0.10). Neither anal HPV infection nor abnormal cytology was significantly associated with anal sex practices, smoking or number of sexual partners. Anal infection with high-risk HPV types is common in women with high-grade genital neoplasia, but was not associated with known risk factors for genital HPV infection. Other unidentified risk factors may play a role in the anal HPV infection in this population. Abnormal anal cytology was rare and larger studies are needed to identify risk factors associated with abnormal cytology and anal intraepithelial neoplasia in this population.

  1. Epidemiologic natural history and clinical management of Human Papillomavirus (HPV Disease: a critical and systematic review of the literature in the development of an HPV dynamic transmission model

    Directory of Open Access Journals (Sweden)

    Dasbach Erik J


    Full Text Available Abstract Background Natural history models of human papillomavirus (HPV infection and disease have been used in a number of policy evaluations of technologies to prevent and screen for HPV disease (e.g., cervical cancer, anogenital warts, sometimes with wide variation in values for epidemiologic and clinical inputs. The objectives of this study are to: (1 Provide an updated critical and systematic review of the evidence base to support epidemiologic and clinical modeling of key HPV disease-related parameters in the context of an HPV multi-type disease transmission model which we have applied within a U.S. population context; (2 Identify areas where additional studies are particularly needed. Methods Consistent with our and other prior HPV natural history models, the literature review was confined to cervical disease and genital warts. Between October 2005 and January 2006, data were gathered from the published English language medical literature through a search of the PubMed database and references were examined from prior HPV natural history models and review papers. Study design and data quality from individual studies were compared and analyses meeting pre-defined criteria were selected. Results Published data meeting review eligibility criteria were most plentiful for natural history parameters relating to the progression and regression of cervical intraepithelial neoplasia (CIN without HPV typing, and data concerning the natural history of HPV disease due to specific HPV types were often lacking. Epidemiologic evidence to support age-dependency in the risk of progression and regression of HPV disease was found to be weak, and an alternative hypothesis concerning the time-dependence of transition rates is explored. No data were found on the duration of immunity following HPV infection. In the area of clinical management, data were observed to be lacking on the proportion of clinically manifest anogenital warts that are treated and the

  2. Monitoring piroplasms infection in three cattle farms in Minorca (Balearic Islands, Spain) with previous history of clinical piroplamosis. (United States)

    Ros-García, A; García-Pérez, A L; Verdera, J; Juste, R A; Hurtado, A


    Bovine piroplasmosis are tick-borne protozoan diseases caused by parasites of the genera Theileria and Babesia. Three Friesian cattle farms (F1-F3) with previous history of clinical piroplamosis were selected in Minorca (Balearic Islands, Spain). Blood samples were collected from 8 to 11 animals every two months throughout a year and, a newly developed multiplex DNA bead-based suspension array based on the Luminex(®) xMAP technology was used to monitor for the presence of piroplasms. The assay incorporated probes for Babesia divergens, Babesia bovis, Babesia bigemina, Babesia major, Babesia occultans, Theileria annulata and Theileria buffeli, and a Catch-all Theileria and Babesia (TB) control probe. An internal amplification control that was detected with a Luminex probe was also included to monitor for inhibition. Infection was detected in 87.5% of the samples, 38.7% as single infections and 48.8% as mixed infections. T. annulata was widespread in Farm F1, with all animals positive over the whole study; albeit less frequently, T. annulata was also detected in Farms F2 and F3. T. buffeli was the overall most prevalent piroplasm, with a wide distribution in Farms F2 and F3 but only occasionally detected in F1. B. bigemina was the most frequent Babesia species, but was absent from Farm F1. B. bovis, previously reported in Minorca, was only sporadically detected in F2 and F3. A further 3 Babesia species not previously found in Minorca were also identified: B. major present in the 3 farms; B. divergens detected once in 2 animals in F2; and B. occultans found in 4 animals in F2 and in 1 Hyalomma marginatum female tick collected from a positive animal. Sequencing confirmed the identity of B. occultans thus extending the distribution of this species to Mediterranean Europe. This study confirmed the endemic situation for piroplasm infection in the region and detected the presence of a large number of chronic asymptomatic carriers. More importantly, 3 Babesia species not

  3. Agreement between clinical history method, Orbscan IIz, and Pentacam in estimating corneal power after myopic excimer laser surgery.

    Directory of Open Access Journals (Sweden)

    Kaevalin Lekhanont

    Full Text Available The purpose of this study was to investigate the agreement between the clinical history method (CHM, Orbscan IIz, and Pentacam in estimating corneal power after myopic excimer laser surgery. Fifty five patients who had myopic LASIK/PRK were recruited into this study. One eye of each patient was randomly selected by a computer-generated process. At 6 months after surgery, postoperative corneal power was calculated from the CHM, Orbscan IIz total optical power at the 3.0 and 4.0 mm zones, and Pentacam equivalent keratometric readings (EKRs at 3.0, 4.0, and 4.5 mm. Statistical analyses included multilevel models, Pearson's correlation test, and Bland-Altman plots. The Orbscan IIz 3.0-mm and 4.0 mm total optical power, and Pentacam 3.0-mm, 4.0-mm, and 4.5-mm EKR values had strong linear positive correlations with the CHM values (r = 0.90-0.94, P = <0.001, for all comparisons, Pearson's correlation. However, only Pentacam 3.0-mm EKR was not statistically different from CHM (P = 0.17, multilevel models. The mean 3.0- and 4.0-mm total optical powers of the Orbscan IIz were significantly flatter than the values derived from CHM, while the average EKRs of the Pentacam at 4.0 and 4.5 mm were significantly steeper. The mean Orbscan IIz 3.0-mm total optical power was the lowest keratometric reading compared to the other 5 values. Large 95% LoA was observed between each of these values, particularly EKRs, and those obtained with the CHM. The width of the 95% LoA was narrowest for Orbscan IIz 3.0-mm total optical power. In conclusion, the keratometric values extracted from these 3 methods were disparate, either because of a statistically significant difference in the mean values or moderate agreement between them. Therefore, they are not considered equivalent and cannot be used interchangeably.

  4. Epitope analysis of Ara h 2 and Ara h 6: characteristic patterns of IgE-binding fingerprints among individuals with similar clinical histories (United States)

    Otsu, K.; Guo, R.; Dreskin, S. C.


    Summary Background Ara h 2 and Ara h 6 are moderately homologous and highly potent peanut allergens. Objective To identify IgE-binding linear epitopes of Ara h 6, compare them to those of Ara h 2, and to stratify binding based on clinical histories. Methods Thirty highly peanut-allergic subjects were stratified by clinical history. Sera were diluted to contain the same amount of anti-peanut IgE. IgE binding to overlapping 20-mer peptides of Ara h 2 and Ara h 6 was assessed using microarrays. Results Each subject had a unique IgE-binding fingerprint to peptides; these data were coalesced into epitope binding. IgE from subjects with a history of more severe reactions (n = 19) had a smaller frequency of binding events (BEs) for both Ara h 2 (52 BEs of 152 (19×8epitopes) possible BEs and Ara h 6 (13 BEs of 133 (19×7 epitopes) possible BEs) compared to IgE from those with milder histories (n = 11) (Ara h 2: 47 BEs of 88 (11×8 epitopes) possible BEs, P epitopes) possible BEs, P epitopes of Ara h 2 and Ara h 6 than do subjects with milder reactions and bind these epitopes in characteristic patterns. Close examination of IgE binding to epitopes of Ara h 2 and Ara h 6 may have prognostic value. PMID:25213872

  5. Recruitment strategies and comparison of prostate cancer-specific clinical data on African-American and Caucasian males with and without family history. (United States)

    Mandal, D M; Sartor, O; Halton, S L; Mercante, D E; Bailey-Wilson, J E; Rayford, W


    Prostate cancer is the most common cancer in men in the United States. This is a complex disease with high heterogeneity and the exact causes are unknown in population-specific samples. Family history is a primary risk factor irrespective of race. Identifying prostate cancer families with multiple affected cancer cases is challenging. Herein we document recruitment techniques and present prostate cancer clinical factors described in a cohort of African Americans and Caucasians with or without a strong family history. A total of 521 prostate cancer patients (241 African Americans and 280 Caucasians) were identified using a novel cooperative methodology involving a combination of treating physicians and tumor registries. Higher prostate-specific antigen (PSA, P=0.0269) was found in familial cases as compared to sporadic cases in African-American men. In addition, PSA values for familial cases were higher (P=0.0093) in African-American as compared to Caucasian men. No differences were detected in Gleason score values in either race, regardless of family history. These findings remained the same after adjustment was made for age at diagnosis. In conclusion, methodologies for cohort acquisition, and clinical characteristics, are described for men with and without a family history of prostate cancer using both Caucasian and African-American populations.

  6. Neurological abnormalities predict disability

    DEFF Research Database (Denmark)

    Poggesi, Anna; Gouw, Alida; van der Flier, Wiesje


    To investigate the role of neurological abnormalities and magnetic resonance imaging (MRI) lesions in predicting global functional decline in a cohort of initially independent-living elderly subjects. The Leukoaraiosis And DISability (LADIS) Study, involving 11 European centres, was primarily aimed...... at evaluating age-related white matter changes (ARWMC) as an independent predictor of the transition to disability (according to Instrumental Activities of Daily Living scale) or death in independent elderly subjects that were followed up for 3 years. At baseline, a standardized neurological examination.......0 years, 45 % males), 327 (51.7 %) presented at the initial visit with ≥1 neurological abnormality and 242 (38 %) reached the main study outcome. Cox regression analyses, adjusting for MRI features and other determinants of functional decline, showed that the baseline presence of any neurological...

  7. Diagnostic values of chest pain history, ECG, troponin and clinical gestalt in patients with chest pain and potential acute coronary syndrome assessed in the emergency department. (United States)

    Mokhtari, Arash; Dryver, Eric; Söderholm, Martin; Ekelund, Ulf


    In the assessment of chest pain patients with suspected acute coronary syndrome (ACS) in the emergency department (ED), physicians rely on global diagnostic impressions ('gestalt'). The aim of this study was to determine the diagnostic value of the ED physician's overall assessment of ACS likelihood, and the values of the main diagnostic modalities underlying this assessment, namely the chest pain history, the ECG and the initial troponin result. 1,151 consecutive ED chest pain patients were prospectively included. The ED physician's interpretation of the chest pain history, the ECG, and the global likelihood of ACS were recorded on special forms. The discharge diagnoses were retrieved from the medical records. A chart review was carried out to determine whether patients with a non-ACS diagnosis at the index visit had ACS or suffered cardiac death within 30 days. The gestalt was better than its components both at ruling in ("Obvious ACS", LR 29) and at ruling out ("No Suspicion of ACS", LR 0.01) ACS. In the "Strong suspicion of ACS" group, 60% of the patients did not have ACS. A positive TnT (LR 24.9) and an ischemic ECG (LR 8.3) were strong predictors of ACS and seemed superior to pain history for ruling in ACS. In patients with a normal TnT and non-ischemic ECG, chest pain history typical of AMI was not a significant predictor of AMI (LR 1.9) while pain history typical of unstable angina (UA) was a moderate predictor of UA (LR 4.7). Clinical gestalt was better than its components both at ruling in and at ruling out ACS, but overestimated the likelihood of ACS when cases were assessed as strong suspicion of ACS. Among the components of the gestalt, TnT and ECG were superior to the chest pain history for ruling in ACS, while pain history was superior for ruling out ACS.

  8. Abnormal Uterine Bleeding


    Benetti-Pinto, Cristina Laguna; Rosa-e-Silva, Ana Carolina Japur de Sá; Yela, Daniela Angerame; Soares Júnior,José Maria


    Abstract Abnormal uterine bleeding is a frequent condition in Gynecology. It may impact physical, emotional sexual and professional aspects of the lives of women, impairing their quality of life. In cases of acute and severe bleeding, women may need urgent treatment with volumetric replacement and prescription of hemostatic substances. In some specific cases with more intense and prolonged bleeding, surgical treatment may be necessary. The objective of this chapter is to describe the main evi...

  9. Early diagnosis based on clinical history and BALF for successful management of smoking-induced acute eosinophilic pneumonia without unnecessary antibiotic usage: a case report. (United States)

    Song, Jee In; Kim, Yang-Ki; Hwang, Jung Hwa; Yang, Hyeon-Jong


    Acute eosinophilic pneumonia (AEP) is a rapid onset and severe respiratory illness characterized by acute febrile respiratory insufficiency, eosinophilic infiltration in the lungs and unique findings on chest imaging. Difficulty in differentiating from other respiratory distress caused by community-acquired pneumonia may result in a delayed diagnosis or treatment with empirical antibiotics. Sixteen-year-old boy who developed AEP with marked eosinophilia in bronchoalveolar lavage fluid (BALF, 36.6%), decreased diffusion capacity of the lung for carbon monoxide (62%) and unique radiological findings. Although he initially denied tobacco use, on repeated thorough clinical history questioning, he eventually admitted beginning smoking 19 days before the onset of symptoms with gradually increasing frequency. His symptoms resolved quickly without use of antibiotics after cessation of tobacco and treatment with corticosteroids. Careful clinical history taking regarding tobacco use combined with early examination of BALF and recognition of unique radiological findings are critical for proper management of AEP.

  10. Heterotaxy syndromes and abnormal bowel rotation

    Energy Technology Data Exchange (ETDEWEB)

    Newman, Beverley [Stanford University, Lucile Packard Children' s Hospital, Department of Radiology, Stanford, CA (United States); Koppolu, Raji; Sylvester, Karl [Lucile Packard Children' s Hospital at Stanford, Department of Surgery, Stanford, CA (United States); Murphy, Daniel [Lucile Packard Children' s Hospital at Stanford, Department of Cardiology, Stanford, CA (United States)


    Bowel rotation abnormalities in heterotaxy are common. As more children survive cardiac surgery, the management of gastrointestinal abnormalities has become controversial. To evaluate imaging of malrotation in heterotaxy with surgical correlation and provide an algorithm for management. Imaging reports of heterotaxic children with upper gastrointestinal (UGI) and/or small bowel follow-through (SBFT) were reviewed. Subsequently, fluoroscopic images were re-reviewed in conjunction with CT/MR studies. The original reports and re-reviewed images were compared and correlated with surgical findings. Nineteen of 34 children with heterotaxy underwent UGI, 13/19 also had SBFT. In 15/19 reports, bowel rotation was called abnormal: 11 malrotation, 4 non-rotation, no cases of volvulus. Re-review, including CT (10/19) and MR (2/19), designated 17/19 (90%) as abnormal, 10 malrotation (abnormal bowel arrangement, narrow or uncertain length of mesentery) and 7 non-rotation (small bowel and colon on opposite sides plus low cecum with probable broad mesentery). The most useful CT/MR findings were absence of retroperitoneal duodenum in most abnormal cases and location of bowel, especially cecum. Abnormal orientation of mesenteric vessels suggested malrotation but was not universal. Nine children had elective bowel surgery; non-rotation was found in 4/9 and malrotation was found in 5/9, with discrepancies (non-rotation at surgery, malrotation on imaging) with 4 original interpretations and 1 re-review. We recommend routine, early UGI and SBFT studies once other, urgent clinical concerns have been stabilized, with elective laparoscopic surgery in abnormal or equivocal cases. Cross-sectional imaging, usually obtained for other reasons, can contribute diagnostically. Attempting to assess mesenteric width is important in differentiating non-rotation from malrotation and more accurately identifies appropriate surgical candidates. (orig.)

  11. Developmental abnormalities of mid and hindbrain

    African Journals Online (AJOL)

    Complete clinical evaluation, cytogenetic analysis and neuroradiological study were done for each patient. Patients' .... measurements (weight, height and head circumference) were assessed. Magnetic resonance imaging ..... developed abnormal kidneys or liver functions; however, regular monitor- ing of these functions is ...

  12. [A young man with extensive skin abnormalities]. (United States)

    van der Weijden, C P; Joore, I K


    A 26-year-old man who has sex with men visited the STI clinic because of increasing skin abnormalities since four months. The patient had macular skin lesions on his penis and scrotum, condylomata lata in the anal region, cutaneous lesions on the feet, and a widespread papular rash. A secondary stage of syphilis was diagnosed.

  13. Craniocervical junction abnormalities with atlantoaxial subluxation ...

    African Journals Online (AJOL)

    Craniocervical junction abnormalities with atlantoaxial subluxation caused by ventral subluxation of C2 were diagnosed in a 6-month-old female Pomeranian with tetraplegia as a clinical sign. Lateral survey radiography of the neck with flexion revealed atlantoaxial subluxation with ventral subluxation of C2. Computed ...

  14. Biological and clinical abnormalities leading to cardiovascular ...

    African Journals Online (AJOL)

    Ivoire, HIV1 treatment protocols are non-nucleoside reverse transcriptase inhibitors based. No study has been undertaken in the country about cardiovascular risk. Thus, the objective of our study was to assess the prevalence of biological ...

  15. Clinical experience with venlafaxine in the treatment of hot flushes in women with a history of breast cancer

    NARCIS (Netherlands)

    A.R. van Gool (Arthur); M. Bannink (Marjolein); M. Bontenbal (Marijke); C.M. Seynaeve (Caroline)


    textabstractOBJECTIVE: To obtain practical experience with venlafaxine for hot flushes in breast cancer patients and incorporate this in a treatment protocol. METHOD: Twenty-two women with a history of breast cancer (mean age 49.2 years, range 35-65) were referred for consideration

  16. Splanchnic Artery Stenosis and Abdominal Complaints : Clinical History Is of Limited Value in Detection of Gastrointestinal Ischemia

    NARCIS (Netherlands)

    ter Steege, R. W. F.; Sloterdijk, H. S.; Geelkerken, R. H.; Huisman, A. B.; van der Palen, J.; Kolkman, J. J.

    Splanchnic artery stenosis is common and mostly asymptomatic and may lead to gastrointestinal ischemia (chronic splanchnic syndrome, CSS). This study was designed to assess risk factors for CSS in the medical history of patients with splanchnic artery stenosis and whether these risk factors can be

  17. Splanchnic artery stenosis and abdominal complaints: clinical history is of limited value in detection of gastrointestinal ischemia

    NARCIS (Netherlands)

    ter Steege, R.W.; Sloterdijk, H.S.; Geelkerken, R.H.; Huisman, A.B.; van der Palen, Jacobus Adrianus Maria; Kolkman, J.J.


    BACKGROUND: Splanchnic artery stenosis is common and mostly asymptomatic and may lead to gastrointestinal ischemia (chronic splanchnic syndrome, CSS). This study was designed to assess risk factors for CSS in the medical history of patients with splanchnic artery stenosis and whether these risk

  18. Semi-quantitative assessment of cerebral blood flow with {sup 99m}Tc-HMPAO SPET in type I diabetic patients with no clinical history of cerebrovascular disease

    Energy Technology Data Exchange (ETDEWEB)

    Quirce, R.; Carril, J.M.; Jimenez-Bonilla, J.F.; Amado, J.A.; Gutierrez-Mendiguchia, C.; Banzo, I.; Blanco, I.; Uriarte, I.; Montero, A. [Servicio de Medicina Nuclear, Hospital Universitario Marques de Valdecilla, Santander (Spain)


    In 65 type I diabetic patients we prospectively evaluated brain perfusion by means of single-photon emission tomography after the injection of 740- 1110 MBq of technetium-99m hexamethylpropylene amine oxime. Thirty-five of the patients presented complications secondary to their diabetes. None showed CNS symptoms. A semiquantitative analysis was performed drawing 50 symmetrical regions of interest (ROIs) per patient. The relative contribution of each ROI to the total blood flow in each slice was compared with the relative contribution of the same ROI in a control group of ten healthy volunteers. Relative values of any ROI in the study group higher or lower than the mean {+-}2 SD in respect of the same ROI in the control group were considered abnormal. The results revealed hypoperfusion in 207 ROIs in the 65 patients with diabetes mellitus: of these ROIs, 113 were frontal, 10 frontotemporal, 20 temporal, 18 parietal, 11 occipital and 35 cerebellar. A total of 137 ROIs showed hyperperfusion: 17 frontal, 3 frontotemporal, 19 temporal, 18 parietal, 19 parieto-occipital, 29 occipital and 32 cerebellar. Out of 65 type I diabetic patients, 61 showed at least one hypoperfused ROI (P = 0.0064 vs. controls) and 25 showed more than three hypoperfused ROIs. None of the control subjects showed more than three hypoperfused regions (P<0.001). The results obtained demonstrate the existence of subclinical abnormalities of brain blood perfusion in patients with type I diabetes mellitus and no history of cerebrovascular disease, thereby allowing the initiation of intensive preventive measures. (orig.) With 3 figs., 5 tabs., 33 refs.

  19. Craniofacial abnormalities among patients with Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa


    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  20. Craniofacial abnormalities among patients with Edwards Syndrome (United States)

    Rosa, Rafael Fabiano M.; Rosa, Rosana Cardoso M.; Lorenzen, Marina Boff; Zen, Paulo Ricardo G.; Graziadio, Carla; Paskulin, Giorgio Adriano


    OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. PMID:24142310

  1. Unruptured intracranial aneurysms: their illusive natural history and why subgroup statistics cannot provide normative criteria for clinical decisions or selection criteria for a randomized trial. (United States)

    Raymond, J; Roy, D; Weill, A; Guilbert, F; Nguyen, T; Molyneux, A J; Fox, A J; Johnston, S C; Cognard, C; Pierot, L; Meder, J-F; Rouleau, Isabelle


    There is currently no evidence that treatment of unruptured aneurysms is beneficial. Confronted with the uncertainty, many clinicians are attracted by an individual calculus of risks using numbers extracted from subgroup statistics of observational studies or natural history data. The so-called natural history of unruptured aneurysms refers to a purely man-made ratio of events divided by the number of untreated patients identified by imaging, a ratio heavily influenced by referral patterns and arbitrary clinical decisions. Available studies lacked prespecified hypotheses, exposing all analyses to sampling error and bias, and sample sizes were too small to provide reliable subgroup statistics. Far from being "natural kinds" of aneurysms, subgroups were post-hoc creations. Resulting data-driven statistics can only be exploratory, the error too uncontrollable to serve for clinical decisions. A randomized trial is in order, but selection according to fixed size criteria is ill-advised, given the imprecision of imaging, the influence of other factors such as location, previous history, multiplicity of lesions, risks of treatment, age and the danger of arbitrarily excluding from a long trial a large segment of the population with aneurysms for whom the research question is most pertinent.

  2. A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the 'Royal Malady'. (United States)

    Hift, Richard J; Peters, Timothy J; Meissner, Peter N


    It has been suggested that King George III of Great Britain suffered from the haem biosynthetic disorder, variegate porphyria. This diagnosis is pervasive throughout the scientific and popular literature, and is often referred to as the 'Royal Malady.' The authors believe it inappropriate to view the case for porphyria purely in terms of symptoms, as has generally been the case in his presumptive acute porphyria diagnosis. Accordingly, this review provides a current description of the natural history and clinical presentation of the porphyrias, against which we measure the case for porphyria in George III and his relatives. The authors have critically assessed the prevalence of porphyria in a population, the expected patterns and frequency of inheritance, its penetrance and its expected natural history in affected individuals, and conclude that neither George nor his relatives had porphyria, based on four principal reasons. First, the rarity of the disease mandates a very low prior probability, and therefore implies a vanishingly low positive predictive value for any diagnostic indicator of low specificity, such as a historical reading of the symptoms. Second, penetrance of this autosomal dominant disorder is approximately 40%, and one may expect to have identified characteristic clinical features of porphyria in a large number of descendants without difficulty. Third, the symptoms of both George III and his relatives are highly atypical for porphyria and are more appropriately explained by other much commoner conditions. Finally, the natural history of the illnesses reported in this family is as atypical for variegate porphyria as are their symptoms.

  3. Comparison of clinical and research assessments of diagnosis, suicide attempt history and suicidal ideation in major depression

    National Research Council Canada - National Science Library

    Bongiovi-Garcia, Mary E; Merville, Jessica; Almeida, M. Goretti; Burke, Ainsley; Ellis, Steven; Stanley, Barbara H; Posner, Kelly; Mann, J. John; Oquendo, Maria A


    .... We present the data from 201 inpatient admissions for major depression that had both clinical diagnostic and suicide evaluations by PGYII resident physicians under supervision from an attending...

  4. Value of past clinical history in differentiating bronchial asthma from COPD in male smokers presenting with SOB and fixed airway obstruction

    Directory of Open Access Journals (Sweden)

    Prahlad Rai Gupta


    Full Text Available Objective: Differentiating asthma from chronic obstructive pulmonary disease (COPD is difficult. Steroid trial may be of help but has several pitfalls. The present study aims to assess the value of past clinical profile of asthma and its differential diagnosis from COPD in male smokers and thereby to formulate clinical parameters to diagnose bronchial asthma in such patients. Patients and Methods: Male smokers who reported at the Respiratory Medicine Department of the National Institute of Medical Sciences (NIMS Hospital, Jaipur, (India, with shortness of breath (SOB and showing less than 12% postbronchodilator bronchial reversibility (BR on spirometry were recruited. These patients were given oral prednisolone 1 mg/kg for two weeks. Post steroid (PS spirometry was performed to ascertain BR. The past clinical history was recorded and analyzed to determine if it is of any use in differentiating asthma from COPD. Result: Out of 104 patients, four were lost to follow up, 52 were diagnosed as bronchial asthma, and the remaining 48 as COPD. It was revealed that past history of (H/O seasonal variation, wheezing, eye allergy, nasal allergy, dust allergy, skin allergy, and family H/O asthma/allergy were positive in 50, 40, 34, 30, 18, 14, and 12 asthma patients as compared to 10, 8, 2, 4, 6, 0, and 0 in 48 COPD patients (P < 0.001. The odds ratio (OR for diagnosing asthma was highest for the presence of any other two symptoms/variables, besides SOB, in the past (OR = 275, P < 0.0001. Conclusion: Past clinical history is of immense value in differentiating asthma from COPD in male smokers presenting with SOB and fixed airway obstruction.

  5. Advances in understanding paternally transmitted Chromosomal Abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, F; Sloter, E; Wyrobek, A J


    Multicolor FISH has been adapted for detecting the major types of chromosomal abnormalities in human sperm including aneuploidies for clinically-relevant chromosomes, chromosomal aberrations including breaks and rearrangements, and other numerical abnormalities. The various sperm FISH assays have been used to evaluate healthy men, men of advanced age, and men who have received mutagenic cancer therapy. The mouse has also been used as a model to investigate the mechanism of paternally transmitted genetic damage. Sperm FISH for the mouse has been used to detect chromosomally abnormal mouse sperm, while the PAINT/DAPI analysis of mouse zygotes has been used to evaluate the types of chromosomal defects that can be paternally transmitted to the embryo and their effects on embryonic development.

  6. Chromosomal Abnormalities Associated with Neural Tube Defects (I: Full Aneuploidy

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen


    Full Text Available Fetuses with neural tube defects (NTDs carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations. This article provides an overview of chromosomal abnormalities associated with NTDs in embryos, fetuses, and newborn patients, and a comprehensive review of numerical chromosomal abnormalities associated with NTDs, such as trisomy 18, trisomy 13, triploidy, trisomy 9, trisomy 2, trisomy 21, trisomy 7, trisomy 8, trisomy 14, trisomy 15, trisomy 16, trisomy 5 mosaicism, trisomy 11 mosaicism, trisomy 20 mosaicism, monosomy X, and tetraploidy. NTDs may be associated with aneuploidy. Perinatal identification of NTDs should alert one to the possibility of chromosomal abnormalities and prompt a thorough cytogenetic investigation and genetic counseling.

  7. Structural Echocardiographic Abnormalities Seen in HIV/AIDS ...

    African Journals Online (AJOL)


    Jun 28, 2017 ... All the individuals had clinical examination, electrocardiography. (ECG) and echocardiography (echo) done. Results: ECG abnormalities were seen in 55.3% of the HIV‑positive patients compared with 2.7% of controls (P <. 0.001). The overall prevalence of echo abnormalities among the patients was 54%,.

  8. Structural echocardiographic abnormalities seen in HIV/AIDS ...

    African Journals Online (AJOL)

    All the individuals had clinical examination, electrocardiography (ECG) and echocardiography (echo) done. Results: ECG abnormalities were seen in 55.3% of the HIV-positive patients compared with 2.7% of controls (P < 0.001). The overall prevalence of echo abnormalities among the patients was 54%, against 15.3% (P ...

  9. The Relative Importance of Family History, Gender, Mode of Onset, and Age at Onsetin Predicting Clinical Features of First-Episode Psychotic Disorders. (United States)

    Compton, Michael T; Berez, Chantal; Walker, Elaine F

    Family history of psychosis, gender, mode of onset, and age at onset are considered prognostic factors important to clinicians evaluating first-episode psychosis; yet, clinicians have little guidance as to how these four factors differentially predict early-course substance abuse, symptomatology, and functioning. We conducted a "head-to-head comparison" of these four factors regarding their associations with key clinical features at initial hospitalization. We also assessed potential interactions between gender and family history with regard to age at onset of psychosis and symptom severity. Consecutively admitted first-episode patients (n=334) were evaluated in two studies that rigorously assessed a number of early-course variables. Associations among variables of interest were examined using Pearson correlations, χ 2 tests, Student's t-tests, and 2×2 factorial analyses of variance. Substance (nicotine, alcohol, and cannabis) abuse and positive symptom severity were predicted only by male gender. Negative symptom severity and global functioning impairments were predicted by earlier age at onset of psychosis. General psychopathology symptom severity was predicted by both mode of onset and age at onset. Interaction effects were not observed with regard to gender and family history in predicting age at onset or symptom severity. The four prognostic features have differential associations with substance abuse, domains of symptom severity, and global functioning. Gender and age at onset of psychosis appear to be more predictive of clinical features at the time of initial evaluation (and thus presumably longer term outcomes) than the presence of a family history of psychosis and a more gradual mode of onset.

  10. The Natural History of Femoroacetabular Impingement

    Directory of Open Access Journals (Sweden)

    Benjamin D. Kuhns


    Full Text Available Femoroacetabular impingement (FAI is a clinical syndrome resulting from abnormal hip joint morphology and is a common cause of hip pain in young adults. FAI has been posited as a precursor to hip osteoarthritis, however, conflicting evidence exists and the true natural history of the disease is unclear. The purpose of this article is to review the current understanding of how FAI damages the hip joint by highlighting its pathomechanics and etiology. We then review the current evidence relating FAI to osteoarthritis. Lastly, we will discuss the potential of hip preservation surgery to alter the natural history of FAI, reduce the risk of developing osteoarthritis and the need for future arthroplasty.

  11. The Natural History of Femoroacetabular Impingement (United States)

    Kuhns, Benjamin D.; Weber, Alexander E.; Levy, David M.; Wuerz, Thomas H.


    Femoroacetabular impingement (FAI) is a clinical syndrome resulting from abnormal hip joint morphology and is a common cause of hip pain in young adults. FAI has been posited as a precursor to hip osteoarthritis (OA); however, conflicting evidence exists and the true natural history of the disease is unclear. The purpose of this article is to review the current understanding of how FAI damages the hip joint by highlighting its pathomechanics and etiology. We then review the current evidence relating FAI to OA. Lastly, we will discuss the potential of hip preservation surgery to alter the natural history of FAI, reduce the risk of developing OA and the need for future arthroplasty. PMID:26636088

  12. Features of Clinical Course and Diagnosis of Patients with Family History of Non-Functioning Pituitary Adenomas

    Directory of Open Access Journals (Sweden)

    Z.Yu. Khalimova


    Conclusions. The familial form of NFPA and the development of clinical symptoms at an early age should be the subject of a diagnostic screening and considered as one of the modifying factors of the disease.

  13. Diagnostic evaluation and risk factors for drug allergies in children: from clinical history to skin and challenge tests. (United States)

    Arikoglu, Tugba; Aslan, Gulen; Batmaz, Sehra Birgul; Eskandari, Gulcin; Helvaci, Ilter; Kuyucu, Semanur


    Parent or self-reported drug allergy claims frequently overestimate the real incidence of hypersensitivity reactions. A detailed and algorithmic diagnostic evaluation of drug reactions may allow a proper diagnosis. The aim of this study was to determine the confirmation rates and risk factors for confirmed allergic drug reactions in children. Mersin University Hospital in Turkey. The study consisted of children between ages of 8 months and 18 years with the history of suspected drug allergy as reported by the clinician or the patients. Parents were interviewed by a clinician to complete questionnaires that included questions about demographic data and characteristics of index drug reaction. Immediate reactions (IRs) were assessed with immediate-reading skin prick (SPT) and intradermal tests (IDT). Nonimmediate reactions (NIRs) were assessed with SPT, both early and delayed reading of IDT and patch tests. In case of negative skin tests, drug provocation tests were performed. The possible risk factors for confirmed drug allergy in univariate analysis (p Parent or self-reported drug allergy should be evaluated with a standardized diagnostic work-up before strict prohibitions are made. In addition, family and personal histories of drug allergy were significant risk factors related to allergic drug reactions in children.

  14. Students’ perception and experience of intimate area examination and sexual history taking during undergraduate clinical skills training: (United States)

    Abdulghani, Hamza Mohammad; Haque, Shafiul; Irshad, Mohammad; Al-Zahrani, Noor; Al-Bedaie, Eman; Al-Fahad, Latifah; Al-Eid, Manar; Al-Mohaimeed, Abdulrahman


    Abstract This study explores the experiences of Saudi undergraduate medical students about intimate-area examination (IAE) and sexual history taking (SHT) skills and assesses the barriers and their impacts on students’ learning. This survey-based study was performed at 2 Saudi university medical colleges and revealed that most of the students never performed IAE, that is, female breast, male genital, female genital, female pelvic, male rectal, and female rectal. We found that 42.3% students had never taken any sexual history during their course. Both, male and female students reported barriers of patient refusal, mismatched sex, cultural background, ethical factors, lack of supervision, lack of training, and lack of skills. Among the currently used pedagogical techniques, majority of the students were satisfied with real patient-based learning, followed by video and manikin-based learning. The study indicates that Saudi students do not have sufficient experience of IAE and SHT because of above-mentioned barriers along with religious issues. This study suggests that teachers provide positive support to students and that they develop novel, competent teaching-and-learning techniques to meet the skills training of students without compromising on religious, sociocultural, and ethical values of the kingdom. PMID:27472734

  15. Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C.

    Directory of Open Access Journals (Sweden)

    Jenny Shin

    Full Text Available Niemann-Pick Disease, type C (NPC is a fatal, neurodegenerative, lysosomal storage disorder. It is a rare disease with broad phenotypic spectrum and variable age of onset. These issues make it difficult to develop a universally accepted clinical outcome measure to assess urgently needed therapies. To this end, clinical investigators have defined emerging, disease severity scales. The average time from initial symptom to diagnosis is approximately 4 years. Further, some patients may not travel to specialized clinical centers even after diagnosis. We were therefore interested in investigating whether appropriately trained, community-based assessment of patient records could assist in defining disease progression using clinical severity scores. In this study we evolved a secure, step wise process to show that pre-existing medical records may be correctly assessed by non-clinical practitioners trained to quantify disease progression. Sixty-four undergraduate students at the University of Notre Dame were expertly trained in clinical disease assessment and recognition of major and minor symptoms of NPC. Seven clinical records, randomly selected from a total of thirty seven used to establish a leading clinical severity scale, were correctly assessed to show expected characteristics of linear disease progression. Student assessment of two new records donated by NPC families to our study also revealed linear progression of disease, but both showed accelerated disease progression, relative to the current severity scale, especially at the later stages. Together, these data suggest that college students may be trained in assessment of patient records, and thus provide insight into the natural history of a disease.

  16. ACOG committee opinion no. 557: Management of acute abnormal uterine bleeding in nonpregnant reproductive-aged women. (United States)


    Initial evaluation of the patient with acute abnormal uterine bleeding should include a prompt assessment for signs of hypovolemia and potential hemodynamic instability. After initial assessment and stabilization, the etiologies of acute abnormal uterine bleeding should be classified using the PALM-COEIN system. Medical management should be the initial treatment for most patients, if clinically appropriate. Options include intravenous conjugated equine estrogen, multi-dose regimens of combined oral contraceptives or oral progestins, and tranexamic acid. Decisions should be based on the patient's medical history and contraindications to therapies. Surgical management should be considered for patients who are not clinically stable, are not suitable for medical management, or have failed to respond appropriately to medical management. The choice of surgical management should be based on the patient's underlying medical conditions, underlying pathology, and desire for future fertility. Once the acute bleeding episode has been controlled, transitioning the patient to long-term maintenance therapy is recommended.

  17. Improving Clinical Practice: What Dentists Need to Know about the Association between Dental Fear and a History of Sexual Violence Victimisation

    Directory of Open Access Journals (Sweden)

    Houman Hadad Larijani


    Full Text Available Anecdotal evidence suggests lack of dentist knowledge and uncertainty about how clinical practice can be improved when dealing with victims of sexual violence. This systematic review presents a synthesis of the available literature, which examined the association between dental fear and a history of sexual violence victimisation. All studies indicated, to various degrees, that dental fear is associated with a history of sexual violence victimisation. The analysis identified several common themes including a perception of lack of control, avoidance behaviours, experiences of flashbacks, feelings of embarrassment, difficulties with the physical proximity to the dentist, the sex of the dentist reminding patients of the perpetrator, being placed into a horizontal body position, the specific impact of fellatio, the smell of latex, experienced lack of knowledge of dental professionals leading to insensitive treatment as well as revictimisation experiences, and the occurrence of disproportionate dental problems among patients who had experienced event(s of sexual violence. All these themes are discussed in detail. Specific strategies are offered to assist dental practitioners in providing sensitive treatment for patients with a history of sexual violence. Additionally, several suggestions are made that may assist both researchers and dental practitioners alike.

  18. Improving Clinical Practice: What Dentists Need to Know about the Association between Dental Fear and a History of Sexual Violence Victimisation. (United States)

    Larijani, Houman Hadad; Guggisberg, Marika


    Anecdotal evidence suggests lack of dentist knowledge and uncertainty about how clinical practice can be improved when dealing with victims of sexual violence. This systematic review presents a synthesis of the available literature, which examined the association between dental fear and a history of sexual violence victimisation. All studies indicated, to various degrees, that dental fear is associated with a history of sexual violence victimisation. The analysis identified several common themes including a perception of lack of control, avoidance behaviours, experiences of flashbacks, feelings of embarrassment, difficulties with the physical proximity to the dentist, the sex of the dentist reminding patients of the perpetrator, being placed into a horizontal body position, the specific impact of fellatio, the smell of latex, experienced lack of knowledge of dental professionals leading to insensitive treatment as well as revictimisation experiences, and the occurrence of disproportionate dental problems among patients who had experienced event(s) of sexual violence. All these themes are discussed in detail. Specific strategies are offered to assist dental practitioners in providing sensitive treatment for patients with a history of sexual violence. Additionally, several suggestions are made that may assist both researchers and dental practitioners alike.

  19. Disease history and medication use as risk factors for the clinical manifestation of type 1 diabetes in children and young adults: an explorative case control study.

    Directory of Open Access Journals (Sweden)

    Soulmaz Fazeli Farsani

    Full Text Available BACKGROUND: There is a highly variable asymptomatic period of beta cell destruction prior to the clinical presentation of type1 diabetes. It is not well known what triggers type 1 diabetes to become a clinically overt disease. This explorative study aimed to identify the association between disease history/medication use and the clinical manifestation of type 1 diabetes. METHODOLOGY/PRINCIPAL FINDINGS: An explorative case control study was conducted in the Dutch PHARMO Record Linkage System. Cases (n = 1,107 were younger than 25 years and had at least 2 insulin prescriptions between 1999 and 2009. For each case, up to 4 controls (without any prescription for the glucose lowering medications (n = 4,424 were matched by age and sex. Conditional logistic regression analysis was used to evaluate the association between disease history/medication use in the year prior to the diagnosis of type 1 diabetes and clinical manifestation of this disease. Type1 diabetes was significantly associated with a history of mental disorder (odds ratio (OR 8.0, 95% confidence interval (CI 1.5-43.7, anemia (OR 5.1, 95% CI 1.1-22.9, and disease of digestive system (OR 2.6, 95% CI 1.2-5.5. The following drug exposures were significantly associated with the clinical manifestation of type 1 diabetes: "systemic hormonal preparations" (OR 1.7, 95% CI 1.1-2.6, medications for "blood and blood forming organs" (OR 1.6, 95% CI 1.1-2.6, "alimentary tract and metabolism" (OR 1.3, 95% CI 1.1-1.6, and "anti-infectives for systemic use" (OR 1.2, 95% CI 1.01-1.4. CONCLUSIONS: Our explorative study demonstrated that in the year prior to the presentation of type 1 diabetes in children and young adults, hospitalization for a diverse group of diseases and drug exposures were significantly more prevalent compared with age- and sex-matched diabetes-free controls.

  20. Abnormal uterine bleeding. (United States)

    Whitaker, Lucy; Critchley, Hilary O D


    Abnormal uterine bleeding (AUB) is a common and debilitating condition with high direct and indirect costs. AUB frequently co-exists with fibroids, but the relationship between the two remains incompletely understood and in many women the identification of fibroids may be incidental to a menstrual bleeding complaint. A structured approach for establishing the cause using the Fédération International de Gynécologie et d'Obstétrique (FIGO) PALM-COEIN (Polyp, Adenomyosis, Leiomyoma, Malignancy (and hyperplasia), Coagulopathy, Ovulatory disorders, Endometrial, Iatrogenic and Not otherwise classified) classification system will facilitate accurate diagnosis and inform treatment options. Office hysteroscopy and increasing sophisticated imaging will assist provision of robust evidence for the underlying cause. Increased availability of medical options has expanded the choice for women and many will no longer need to recourse to potentially complicated surgery. Treatment must remain individualised and encompass the impact of pressure symptoms, desire for retention of fertility and contraceptive needs, as well as address the management of AUB in order to achieve improved quality of life. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  1. Evaluation of nail abnormalities. (United States)

    Tully, Amber S; Trayes, Kathryn P; Studdiford, James S


    Knowledge of the anatomy and function of the nail apparatus is essential when performing the physical examination. Inspection may reveal localized nail abnormalities that should be treated, or may provide clues to an underlying systemic disease that requires further workup. Excessive keratinaceous material under the nail bed in a distal and lateral distribution should prompt an evaluation for onychomycosis. Onychomycosis may be diagnosed through potassium hydroxide examination of scrapings. If potassium hydroxide testing is negative for the condition, a nail culture or nail plate biopsy should be performed. A proliferating, erythematous, disruptive mass in the nail bed should be carefully evaluated for underlying squamous cell carcinoma. Longitudinal melanonychia (vertical nail bands) must be differentiated from subungual melanomas, which account for 50 percent of melanomas in persons with dark skin. Dystrophic longitudinal ridges and subungual hematomas are local conditions caused by trauma. Edema and erythema of the proximal and lateral nail folds are hallmark features of acute and chronic paronychia. Clubbing may suggest an underlying disease such as cirrhosis, chronic obstructive pulmonary disease, or celiac sprue. Koilonychia (spoon nail) is commonly associated with iron deficiency anemia. Splinter hemorrhages may herald endocarditis, although other causes should be considered. Beau lines can mark the onset of a severe underlying illness, whereas Muehrcke lines are associated with hypoalbuminemia. A pincer nail deformity is inherited or acquired and can be associated with beta-blocker use, psoriasis, onychomycosis, tumors of the nail apparatus, systemic lupus erythematosus, Kawasaki disease, and malignancy.

  2. Communication and abnormal behaviour. (United States)

    Crown, S


    In this paper the similarities between normal and abnormal behaviour are emphasized and selected aspects of communication, normal and aberrant, between persons are explored. Communication in a social system may be verbal or non-verbal: one person's actions cause a response in another person. This response may be cognitive, behavioural or physiological. Communication may be approached through the individual, the social situation or social interaction. Psychoanalysis approaches the individual in terms of the coded communications of psychoneurotic symptoms or psychotic behaviour; the humanist-existential approach is concerned more with emotional expression. Both approaches emphasize the development of individual identity. The interaction between persons and their social background is stressed. Relevant are sociological concepts such as illness behaviour, stigma, labelling, institutionalization and compliance. Two approaches to social interactions are considered: the gamesplaying metaphor, e.g. back pain as a psychosocial manipulation--the 'pain game'; and the 'spiral of reciprocal perspectives' which emphasizes the interactional complexities of social perceptions. Communicatory aspects of psychological treatments are noted: learning a particular metaphor such as 'resolution' of the problem (psychotherapy), learning more 'rewarding' behaviour (learning theory) or learning authenticity or self-actualization (humanist-existential).

  3. Reproductive abnormalities in aged female Macaca fascicularis. (United States)

    Wilkinson, Michele; Walters, Sherry; Smith, Taryn; Wilkinson, Andrew


    Spontaneous reproductive tract abnormalities occurred in six female wild-caught, Philippine-origin, Macaca fascicularis. These animals were between 19 and 22 years of age and maintained in captivity for approximately 15 years. Clinical presentations ranged from asymptomatic to painful menses manifested as cyclical recumbency and lethargy. All animals had masses in the caudal ventral abdomen. Diagnostics included physical examination, complete blood counts, clinical chemistries, radiography, and ultrasonography. All animals had an ovariosalpingohysterectomy. Histologic diagnoses included ovarian granulosa cell tumor, ovarian pseudocystic cavitation with encapsulating fibrosis, uterine smooth muscle hyperplasia, uterine leiomysarcoma, and uterine leiomyoma with possible adenomyosis. The abnormalities discovered in these animals present novel insight into the reproductive diseases prevalent in geriatric female M. fascicularis, which vary from that previously reported in other non-human primate species.

  4. Migraine and structural abnormalities in the brain

    DEFF Research Database (Denmark)

    Hougaard, Anders; Amin, Faisal Mohammad; Ashina, Messoud


    PURPOSE OF REVIEW: The aim is to provide an overview of recent studies of structural brain abnormalities in migraine and to discuss the potential clinical significance of their findings. RECENT FINDINGS: Brain structure continues to be a topic of extensive research in migraine. Despite advances...... in neuroimaging techniques, it is not yet clear if migraine is associated with grey matter changes. Recent large population-based studies sustain the notion of increased prevalence of white matter abnormalities in migraine, and possibly of silent infarct-like lesions. The clinical relevance of this association...... is not clear. Structural changes are not related to cognitive decline, but a link to an increased risk of stroke, especially in patients with aura, cannot be ruled out. SUMMARY: Migraine may be a risk factor for structural changes in the brain. It is not yet clear how factors such as migraine sub-type, attack...

  5. Varicella seroprevalence in individuals with a negative or unknown varicella history - results from a large travel clinic in Switzerland between 2008 and 2015. (United States)

    Freuler, Michael; De Crom, Susan; Hatz, Christoph; Bühler, Silja


    In Switzerland, vaccination against varicella is not recommended in the basic immunisation schedule. However, for individuals aged 11-40 years who do not have a reliable varicella history the Swiss Federal Office of Public Health recommends either (i) a vaccination or (ii) a serology test and vaccination of those with a negative result. In the Travel Clinic of the University of Zurich, the second strategy is followed. In this study we retrospectively assessed the overall percentage of individuals with varicella-specific antibodies despite a negative history and we examined the influence of age, number of siblings, order of siblings, age difference to siblings and nationality on varicella seropositivity. Between December 2008 and August 2015, the sera of 1757 individuals with a negative varicella history were tested for varicella antibodies. A total of 1593 individuals (91%) had a positive result. We found an increasing trend for varicella seropositivity with increasing age. Those aged less than 40 years were significantly more often seronegative (9.5%) than those aged 40 years and above (6.0%, p = 0.049). Seropositivity was associated with nationality. The percentage of seropositives increased with the number of siblings. Our results indicate that, despite the significant varicella seropositivity differences between those aged below and above, the age of 40 may not be an ideal threshold for performing a varicella serology in individuals with a negative or unknown varicella history. In the age groups above 40, testing for varicella antibodies may be especially reasonable in individuals with no or a small number of siblings and in those of specific nationalities.

  6. Estimating the risk of gestational diabetes mellitus : a clinical prediction model based on patient characteristics and medical history

    NARCIS (Netherlands)

    van Leeuwen, M.; Opmeer, B. C.; Zweers, E. J. K.; van Ballegooie, E.; ter Brugge, H. G.; de Valk, H. W.; Visser, G. H. A.; Mol, B. W. J.

    Objective To develop a clinical prediction rule that can help the clinician to identify women at high and low risk for gestational diabetes mellitus (GDM) early in pregnancy in order to improve the efficiency of GDM screening. Design We used data from a prospective cohort study to develop the

  7. NK cell phenotypic and functional shifts coincide with specific clinical phases in the natural history of chronic HBV infection

    NARCIS (Netherlands)

    R.A. de Groen (Rik); J. Hou (Jun); G.W. van Oord (Gertine); Z.M.A. Groothuismink (Zwier); van der Heide, M. (Marieke); R.J. de Knegt (Robert); P.A. Boonstra (André)


    textabstractBackground Chronic HBV infection can be divided into 4 distinct clinical phases: immune tolerant, immune active, inactive carrier, and HBeAg-negative hepatitis. Using a systems biology approach, we recently identified innate immune response components, specifically NK cells as a

  8. A clinical procedures curriculum for undergraduate medical students: the eight-year history of a third-year immersive experience. (United States)

    Thompson, Laura; Exline, Matthew; Leung, Cynthia G; Way, David P; Clinchot, Daniel; Bahner, David P; Khandelwal, Sorabh


    Background Procedural skills training is a critical component of medical education, but is often lacking in standard clinical curricula. We describe a unique immersive procedural skills curriculum for medical students, designed and taught primarily by emergency medicine faculty at The Ohio State University College of Medicine. Objectives The primary educational objective of this program was to formally introduce medical students to clinical procedures thought to be important for success in residency. The immersion strategy (teaching numerous procedures over a 7-day period) was intended to complement the student's education on third-year core clinical clerkships. Program design The course introduced 27 skills over 7 days. Teaching and learning methods included lecture, prereading, videos, task trainers, peer teaching, and procedures practice on cadavers. In year 4 of the program, a peer-team teaching model was adopted. We analyzed program evaluation data over time. Impact Students valued the selection of procedures covered by the course and felt that it helped prepare them for residency (97%). The highest rated activities were the cadaver lab and the advanced cardiac life support (97 and 93% positive endorsement, respectively). Lectures were less well received (73% positive endorsement), but improved over time. The transition to peer-team teaching resulted in improved student ratings of course activities (pteaching model improved course evaluations by students, which implies that this was an effective teaching method for adult learners. This course was recently expanded and restructured to place the learning closer to the clinical settings in which skills are applied.

  9. A clinical procedures curriculum for undergraduate medical students: the eight-year history of a third-year immersive experience

    Directory of Open Access Journals (Sweden)

    Laura Thompson


    Full Text Available Background: Procedural skills training is a critical component of medical education, but is often lacking in standard clinical curricula. We describe a unique immersive procedural skills curriculum for medical students, designed and taught primarily by emergency medicine faculty at The Ohio State University College of Medicine. Objectives: The primary educational objective of this program was to formally introduce medical students to clinical procedures thought to be important for success in residency. The immersion strategy (teaching numerous procedures over a 7-day period was intended to complement the student's education on third-year core clinical clerkships. Program design: The course introduced 27 skills over 7 days. Teaching and learning methods included lecture, prereading, videos, task trainers, peer teaching, and procedures practice on cadavers. In year 4 of the program, a peer-team teaching model was adopted. We analyzed program evaluation data over time. Impact: Students valued the selection of procedures covered by the course and felt that it helped prepare them for residency (97%. The highest rated activities were the cadaver lab and the advanced cardiac life support (97 and 93% positive endorsement, respectively. Lectures were less well received (73% positive endorsement, but improved over time. The transition to peer-team teaching resulted in improved student ratings of course activities (p<0.001. Conclusion: A dedicated procedural skills curriculum successfully supplemented the training medical students received in the clinical setting. Students appreciated hands-on activities and practice. The peer-teaching model improved course evaluations by students, which implies that this was an effective teaching method for adult learners. This course was recently expanded and restructured to place the learning closer to the clinical settings in which skills are applied.

  10. Factors associated with abnormal spirometry among HIV-infected individuals. (United States)

    Drummond, M Bradley; Huang, Laurence; Diaz, Philip T; Kirk, Gregory D; Kleerup, Eric C; Morris, Alison; Rom, William; Weiden, Michael D; Zhao, Enxu; Thompson, Bruce; Crothers, Kristina


    HIV-infected individuals are susceptible to development of chronic lung diseases, but little is known regarding the prevalence and risk factors associated with different spirometric abnormalities in this population. We sought to determine the prevalence, risk factors and performance characteristics of risk factors for spirometric abnormalities among HIV-infected individuals. Cross-sectional cohort study. We analyzed cross-sectional US data from the NHLBI-funded Lung-HIV consortium - a multicenter observational study of heterogeneous groups of HIV-infected participants in diverse geographic sites. Logistic regression analysis was performed to determine factors statistically significantly associated with spirometry patterns. A total of 908 HIV-infected individuals were included. The median age of the cohort was 50 years, 78% were men and 68% current smokers. An abnormal spirometry pattern was present in 37% of the cohort: 27% had obstructed and 10% had restricted spirometry patterns. Overall, age, smoking status and intensity, history of Pneumocystis infection, asthma diagnosis and presence of respiratory symptoms were independently associated with an abnormal spirometry pattern. Regardless of the presence of respiratory symptoms, five HIV-infected participants would need to be screened with spirometry to diagnose two individuals with any abnormal spirometry pattern. Nearly 40% of a diverse US cohort of HIV-infected individuals had an abnormal spirometry pattern. Specific characteristics including age, smoking status, respiratory infection history and respiratory symptoms can identify those at risk for abnormal spirometry. The high prevalence of abnormal spirometry and the poor predictive capability of respiratory symptoms to identify abnormal spirometry should prompt clinicians to consider screening spirometry in HIV-infected populations.

  11. Routine history as compared to audio computer-assisted self-interview for prenatal care history taking. (United States)

    Mears, Molly; Coonrod, Dean V; Bay, R Curtis; Mills, Terry E; Watkins, Michelle C


    To compare endorsement rates obtained with audio computer-assisted self-interview versus routine prenatal history. A crosssectional study compared items captured with the routine history to those captured with a computer interview (computer screen displaying and computer audio reading questions, with responses entered by touch screen). The subjects were women (n=174) presenting to a public hospital clinic for prenatal care. The prevalence of positive responses using the computer interview was significantly greater (p history for induced abortion (16.8% versus 4.0%), lifetime smoking (12.8% versus 5.2%), intimate partner violence (10.0% versus 2.4%), ectopic pregnancy (5.2% versus 1.1%) and family history of mental retardation (6.7% versus 0.6%). Significant differences were not found for history of spontaneous abortion, hypertension, epilepsy, thyroid disease, smoking during pregnancy, gynecologic surgery, abnormal Pap test, neural tube defect or cystic fibrosis family history. However, in all cases, prevalence was equal or greater with the computer interview. Women were more likely to report sensitive and high-risk behavior, such as smoking history, intimate partner violence and elective abortion, with the computer interview. The computer interview displayed equal or increased patient reporting of positive responses and may therefore be an accurate method of obtaining an initial history.

  12. Cervical Cancer Prevention Knowledge and Abnormal Pap Test Experiences Among Women Living with HIV/AIDS. (United States)

    Wigfall, Lisa T; Bynum, Shalanda A; Brandt, Heather M; Friedman, Daniela B; Bond, Sharon M; Lazenby, Gweneth B; Richter, Donna L; Glover, Saundra H; Hébert, James R


    Cervical cancer prevention knowledge deficits persist among women living with HIV/AIDS (WLHA) despite increased risk of developing cervical dysplasia/cancer. We examined associations between WLHA's cervical cancer prevention knowledge and abnormal Pap test history. We recruited 145 urban and rural WLHA from Ryan White-funded clinics and AIDS service organizations located in the southeastern USA between March 2011 and April 2012. For this analysis, women who reported a history of cervical cancer (n = 3) or had a complete hysterectomy (n = 14) and observations with missing data (n = 22) were excluded. Stata/IC 13 was used to perform cross-tabulations and chi-squared tests. Our sample included 106 predominantly non-Hispanic Black (92%) WLHA. Mean age was 46.3 ± 10.9 years. Half (50%) had ≤ high school education. One third (37%) had low health literacy. The majority (83 %) had a Pap test test every year, once two tests are normal. Many (68%) have had an abnormal Pap test. Abnormal Pap test follow-up care knowledge varied. While 86% knew follow-up care could include a repeat Pap test, only 56% knew this could also include an HPV test. Significantly, more women who had an abnormal Pap test knew follow-up care could include a biopsy (p = 0.001). For WLHA to make informed/shared decisions about their cervical health, they need to be knowledgeable about cervical cancer care options across the cancer control continuum. Providing WLHA with prevention knowledge beyond screening recommendations seems warranted given their increased risk of developing cervical dysplasia/neoplasia.

  13. Using an imaginary scrapbook for neurolinguistic programming in the aftermath of a clinical depression: a case history. (United States)

    Hossack, A; Standidge, K


    We employed neurolinguistic programming (NLP) principles to develop a positive self-identity in an elderly male patient in England recovering from clinical depression. This novel technique encouraged recall of intrinsically rewarding past experiences. Each experience was conceptualized in an image and compiled chronologically in an imaginary book, providing continuity to what were chaotic and fragmented recollections during the immediate postdepressive stage. The patient's anxiety and depression were alleviated and his own functional goals largely realized.

  14. Chromosomal abnormalities and autism

    African Journals Online (AJOL)

    Farida El-Baz


    Jun 19, 2015 ... Abstract Background: Autism is a neurodevelopmental disorder characterized by clinical, etio- logic and genetic heterogeneity. Many surveys revealed cytogenetically visible chromosomal abnor- malities in 7.4% of autistic patients documented as well as several submicroscopic variants. This study had ...

  15. CT cold areas in both putamens in cases with history of perinatal asphyxia

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    Ishizaki, Asayo; Maruyama, Hiroshi (Tokyo Women' s Medical Coll. (Japan))


    CT bilaterally showed a cold area in the putamen of 5 infants with cerebral palsy who had had asphyxia at birth. The etiology was discussed, and 4 of the cases were clinically studied. All four patients had convulsive tetraplegia, or convulsive bilateral paralysis with the element of athetosis. Three of them had a history of infantile epilepsy, accompanied by abnormal ocular movement. Two patients with tetraplegia showed marked hypotonia of the trunk in ventral support (Landau). Impairment of the bilateral putamens in the abnormal muscle tone was inferred.

  16. Key discoveries in bile acid chemistry and biology and their clinical applications: history of the last eight decades. (United States)

    Hofmann, Alan F; Hagey, Lee R


    During the last 80 years there have been extraordinary advances in our knowledge of the chemistry and biology of bile acids. We present here a brief history of the major achievements as we perceive them. Bernal, a physicist, determined the X-ray structure of cholesterol crystals, and his data together with the vast chemical studies of Wieland and Windaus enabled the correct structure of the steroid nucleus to be deduced. Today, C24 and C27 bile acids together with C27 bile alcohols constitute most of the bile acid "family". Patterns of bile acid hydroxylation and conjugation are summarized. Bile acid measurement encompasses the techniques of GC, HPLC, and MS, as well as enzymatic, bioluminescent, and competitive binding methods. The enterohepatic circulation of bile acids results from vectorial transport of bile acids by the ileal enterocyte and hepatocyte; the key transporters have been cloned. Bile acids are amphipathic, self-associate in solution, and form mixed micelles with polar lipids, phosphatidylcholine in bile, and fatty acids in intestinal content during triglyceride digestion. The rise and decline of dissolution of cholesterol gallstones by the ingestion of 3,7-dihydroxy bile acids is chronicled. Scientists from throughout the world have contributed to these achievements. Copyright © 2014 by the American Society for Biochemistry and Molecular Biology, Inc.

  17. Semen abnormalities with SSRI antidepressants. (United States)


    Despite decades of widespread use, the adverse effect profile of "selective" serotonin reuptake inhibitor (SSRI) antidepressants has still not been fully elucidated. Studies in male animals have shown delayed sexual development and reduced fertility. Three prospective cohort studies conducted in over one hundred patients exposed to an SSRI for periods ranging from 5 weeks to 24 months found altered semen param-eters after as little as 3 months of exposure: reduced sperm concentration, reduced sperm motility, a higher percentage of abnormal spermatozoa, and increased levels of sperm DNA fragmentation. One clinical trial showed growth retardation in children considered depressed who were exposed to SSRls. SSRls may have endocrine disrupting properties. Dapoxetine is a short-acting serotonin reuptake inhibitor that is chemically related to fluoxetine and marketed in the European Union for men complaining of premature ejaculation. But the corresponding European summary of product characteristics does not mention any effects on fertility. In practice, based on the data available as of mid-2014, the effects of SSRI exposure on male fertility are unclear. However, it is a risk that should be taken into account and pointed out to male patients who would like to father a child or who are experiencing fertility problems.

  18. [Cardiac sarcoidosis - clinical manifestation and diagnosis]. (United States)

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


    Sarcoidosis is a multisystem inflammatory disease defined histologically by the formation of noncaseating granulomas. The etiology of sarcoidosis remains unknown. Heart involvement in the course of sarcoidosis concerns about 5% of patients. The most common manifestation of cardiac sarcoidosis are conduction abnormalities, arrhythmias and heart failure. The diagnostic algorithm includes performing a clinical history, a 12-lead electrocardiogram (ECG) and an echocardiogram. If any of the initial screening investigations yields an abnormality, diagnostics should be continue using advanced imaging techniques: cardiovascular magnetic resonance (CMR) or fluorodeoxyglucose positron emission tomography (FDG-PET). Nowadays endomyocardial biopsy is not performed routinely.The clinical picture of cardiac sarcoidosis is highly variable. Screening for cardiac sarcoidosis should be performed in all patients diagnosed with extracardiac sarcoidosis. Cardiac sarcoidosis should also be suspected in young patients without a diagnosis of sarcoidosis who present with conduction abnormalities of unknown etiology, because cardiac sarcoidosis may be the first or the only manifestation of the disease. © 2016 MEDPRESS.

  19. Retrospective evaluation of 155 adult equids and 21 foals with tetanus in Western, Northern, and Central Europe (2000-2014). Part 1: Description of history and clinical evolution. (United States)

    van Galen, Gaby; Saegerman, Claude; Rijckaert, Joke; Amory, Helene; Armengou, Lara; Bezdekova, Barbora; Durie, Inge; Findshøj Delany, Rikke; Fouché, Nathalie; Haley, Laura; Hewetson, Michael; van den Hoven, Rene; Kendall, Anna; Malalana, Fernando; Muller Cavalleri, Jessika; Picavet, Tresemiek; Roscher, Katja; Verwilghen, Denis; Wehrli Eser, Meret; Westermann, Cornélie; Mair, Tim


    To describe clinical data of hospitalized adult equids and foals with tetanus. Multicenter retrospective study (2000-2014). Twenty Western, Northern, and Central European university teaching hospitals and private referral centers. One hundred fifty-five adult equids (>6 months) and 21 foals (tetanus. None. Information on geographic, annual and seasonal data, demographic- and management-related data, clinical history, clinical examination and blood analysis on admission, complications, treatments, and outcomes were described and statistically compared between adults and foals. The described cases were often young horses. In 4 adult horses, tetanus developed despite appropriate vaccination and in 2 foals despite preventive tetanus antitoxin administration at birth. Castration, hoof abscesses, and wounds were the most common entry sites for adults; umbilical cord infections and wounds for foals. Stiffness was the commonest observed initial clinical sign. Blood analyses frequently revealed an inflammatory response, hemoconcentration, muscle damage, azotemia, negative energy balance, liver damage, and electrolyte and acid base disturbances. Common complications or clinical signs developing during hospitalization included dysphagia, dyspnea, recumbency, hyperthermia, seizures, hyperlipemia, gastrointestinal impactions, dysuria, and laryngeal spasms. Cases were supported with wound debridement, antimicrobial treatment, tetanus antitoxin, muscle spasm and seizure control, analgesia, anti-inflammatory drugs, fluid therapy, and nutritional support. Mortality rates were 68.4% in adult horses and 66.7% in foals. Foals differed from adult horses with respect to months of occurrence, signalment, management-related data, potential causative events, clinical signs on admission, blood analysis, complications, and severity grades. This is the first study that rigorously describes a large population of equids affected by tetanus. The information provided is potentially useful to

  20. Phenotypic abnormalities strongly reflect genotype in patients with unexplained cytopenias. (United States)

    Cutler, Jevon A; Wells, Denise A; van de Loosdrecht, Arjan A; de Baca, Monica E; Kalnoski, Michael H; Zehentner, Barbara K; Eidenschink, Lisa; Ghirardelli, Keely M; Biggerstaff, Julie Sanford; Loken, Michael R


    In patients with unexplained cytopenias, abnormal karyotyping studies can be found with inconclusive light microscopic findings. Multidimensional flow cytometry (FCM) can identify myelomonocytic cells with aberrant phenotypes often not seen by standard morphology. In 431 patients presenting with unexplained cytopenia(s) FCM results were compared to abnormal karyotyping and FISH results recognized as associated with myelodysplastic syndrome (MDS) in the 2008 WHO classification, to assess the degree of and types of phenotypic abnormalities observed using a previously reported flow cytometric scoring system (FCSS). Fluorescence activated cell sorting was also used to identify subpopulations of abnormal maturing myelomonocytic cells that carry the genotypic abnormality. For marrows with complex (three or more karyotypic abnormalities), two abnormalities, isolated chromosome seven anomalies, del(5q) or del(13q), 100% of cases were positive when using a FCSS cutoff of ≥ 2. Trisomy 8, del(20 q), and minus Y had flow scores ≥ 2 in 72, 60, and 18%, respectively, but in some cases the flow score was high, indicating myeloid dysplasia. Most patients (16/22) with high myeloid progenitor cells (MyPC) (> 20%) also exhibited maturing myeloid cell abnormalities by FCM. Morphology was negative in the maturing myeloid cells in many cases with phenotypically abnormal myeloid cells. The high correlation between genotypic and phenotypic abnormalities suggests a possible increased utility of flow cytometry in the diagnosis of patients with unexplained cytopenias and may be useful in future clinical studies and in the classification by the WHO, using the FCSS rather than simple counting of flow cytometric abnormalities. Copyright © 2010 International Clinical Cytometry Society.

  1. Prevalence and Natural History of Microscopic Colitis: A Population-Based Study With Long-term Clinical Follow-up in Terrassa, Spain. (United States)

    Fernández-Bañares, Fernando; Zabana, Yamile; Aceituno, Montserrat; Ruiz, Laura; Salas, Antonio; Esteve, Maria


    Few studies have assessed the prevalence of microscopic colitis (MC) and the natural history of this disease is not well known. The aim of this study was to evaluate the prevalence rate of MC, the burden of disease in terms of loss of health and the long-term natural history of MC in a population-based cohort study. Cases were obtained from the pathology department registry Hospital Universitari Mutua Terrassa. Belonging to the catchment area, maintaining residence in that area, and being alive on August 31, 2014 were confirmed for each case. Adjusted prevalence rates were calculated. Current active drugs for MC and diarrhoea persistence in every patient were recorded. The prevalence rate of MC was 107 per 10(5) inhabitants. The rate of patients with active disease, i.e. those representing the true burden of the disease in terms of loss of health, was 31 per 10(5) inhabitants. After a follow-up of 7.8±0.38 years from diagnosis, 75% of the patients experienced prolonged disease remission, defined as clinical remission without requiring drugs for 1 year or more. The only variable associated with prolonged MC remission was how clinical remission was achieved (spontaneous 93.3%, drug-induced, 60.5%; odds ratio 8.4, 95% confidence interval 2.7-26). The rate of patients with MC and active disease, which represents the true disease burden in terms of loss of health, is low. Most patients with MC experience prolonged disease remission, with key differences between spontaneous and drug-induced clinical remission. Copyright © 2016 European Crohn’s and Colitis Organisation (ECCO). Published by Oxford University Press. All rights reserved. For permissions, please email:

  2. Socio-Demographic, Clinical and Behavioral Characteristics Associated with a History of Suicide Attempts among Psychiatric Outpatients: A Case Control Study in a Northern Mexican City. (United States)

    Alvarado-Esquivel, Cosme; Sánchez-Anguiano, Luis Francisco; Arnaud-Gil, Carlos Alberto; Hernández-Tinoco, Jesús; Molina-Espinoza, Luis Fernando; Rábago-Sánchez, Elizabeth


    Little is known about the epidemiology of suicide attempts among psychiatric outpatients in Mexico. This study was aimed to determine the socio-demographic, clinical and behavioral characteristics associated with suicide attempts in psychiatric outpatients in two public hospitals in Durango, Mexico. Two hundred seventy six psychiatric outpatients (154 suicide attempters and 122 patients without suicide attempt history) attended the two public hospitals in Durango City, Mexico were included in this study. Socio-demographic, clinical and behavioral characteristics were obtained retrospectively from all outpatients and compared in relation to the presence or absence of suicide attempt history. Increased prevalence of suicide attempts was associated with mental and behavioral disorders due to psychoactive substance use (F10-19) (P=0.01), schizophrenia, schizotypal and delusional disorders (F20-29) (P=0.02), mood (affective) disorders (F30-39) (Pattempts were associated with young age (OR=1.21, 95% CI: 1.06-1.39; P=0.003), female gender (OR=2.98, 95% CI: 1.55-5.73; P=0.001), urban residence (OR=2.31, 95% CI: 1.17-4.57; P=0.01), memory impairment (OR=1.91, 95% CI: 1.07-3.40; P=0.02), alcohol consumption (OR=2.39, 95% CI: 1.21-4.70; P=0.01), and sexual promiscuity (OR=3.90, 95% CI: 1.74-8.77; Pattempts with socio-demographic, clinical and behavioral characteristics in psychiatric outpatients in Mexico. Results may be useful for an optimal planning of preventive measures against suicide attempts in psychiatric outpatients.

  3. Skin examination behavior: the role of melanoma history, skin type, psychosocial factors, and region of residence in determining clinical and self-conducted skin examination. (United States)

    Kasparian, Nadine A; Bränström, Richard; Chang, Yu-mei; Affleck, Paul; Aspinwall, Lisa G; Tibben, Aad; Azizi, Esther; Baron-Epel, Orna; Battistuzzi, Linda; Bruno, William; Chan, May; Cuellar, Francisco; Debniak, Tadeusz; Pjanova, Dace; Ertmanski, Slawomir; Figl, Adina; Gonzalez, Melinda; Hayward, Nicholas K; Hocevar, Marko; Kanetsky, Peter A; Leachman, Sancy; Bergman, Wilma; Heisele, Olita; Palmer, Jane; Peric, Barbara; Puig, Susana; Schadendorf, Dirk; Gruis, Nelleke A; Newton-Bishop, Julia; Brandberg, Yvonne


    To examine the frequency and correlates of skin examination behaviors in an international sample of individuals at varying risk of developing melanoma. A cross-sectional, web-based survey. Data were collected from the general population over a 20-month period on behalf of the Melanoma Genetics Consortium (GenoMEL). A total of 8178 adults from Northern (32%), Central (33%), and Southern (14%) Europe, Australia (13%), and the United States (8%). Self-reported frequency of skin self-examination (SSE) and clinical skin examination (CSE). After adjustment for age and sex, frequency of skin examination was higher in both Australia (odds ratio [OR]SSE=1.80 [99% CI, 1.49-2.18]; ORCSE=2.68 [99% CI, 2.23-3.23]) and the United States (ORSSE=2.28 [99% CI, 1.76-2.94]; ORCSE=3.39 [99% CI, 2.60-4.18]) than in the 3 European regions combined. Within Europe, participants from Southern Europe reported higher rates of SSE than those in Northern Europe (ORSSE=1.61 [99% CI, 1.31-1.97]), and frequency of CSE was higher in both Central (ORCSE=1.47 [99% CI, 1.22-1.78]) and Southern Europe (ORCSE=3.46 [99% CI, 2.78, 4.31]) than in Northern Europe. Skin examination behavior also varied according to melanoma history: participants with no history of melanoma reported the lowest levels of skin examination, while participants with a previous melanoma diagnosis reported the highest levels. After adjustment for region, and taking into account the role of age, sex, skin type, and mole count, engagement in SSE and CSE was associated with a range of psychosocial factors, including perceived risk of developing melanoma; perceived benefits of, and barriers to, skin examination; perceived confidence in one's ability to engage in screening; and social norms. In addition, among those with no history of melanoma, higher cancer-related worry was associated with greater frequency of SSE. Given the strong association between psychosocial factors and skin examination behaviors, particularly among people with

  4. [Renal abnormalities in ankylosing spondylitis]. (United States)

    Samia, Barbouch; Hazgui, Faiçal; Abdelghani, Khaoula Ben; Hamida, Fethi Ben; Goucha, Rym; Hedri, Hafedh; Taarit, Chokri Ben; Maiz, Hedi Ben; Kheder, Adel


    We will study the epidemiologic, clinical, biological, therapeutic, prognostic characteristics and predictive factors of development of nephropathy in ankylosing spondylitis patients. We retrospectively reviewed the medical record of 32 cases with renal involvement among 212 cases of ankylosing spondylitis followed in our service during the period spread out between 1978 and 2006. The renal involvement occurred in all patients a mean of 12 years after the clinical onset of the rheumatic disease. Thirty-two patients presented one or more signs of renal involvement: microscopic hematuria in 22 patients, proteinuria in 23 patients, nephrotic syndrome in 11 patients and decreased renal function in 24 patients (75%). Secondary renal amyloidosis (13 patients), which corresponds to a prevalence of 6,1% and tubulointerstitial nephropathy (7 patients) were the most common cause of renal involvement in ankylosing spondylitis followed by IgA nephropathy (4 patients). Seventeen patients evolved to the end stage renal disease after an average time of 29.8 ± 46 months. The average follow-up of the patients was 4,4 years. By comparing the 32 patients presenting a SPA and renal disease to 88 with SPA and without nephropathy, we detected the predictive factors of occurred of nephropathy: tobacco, intense inflammatory syndrome, sacroileite stage 3 or 4 and presence of column bamboo. The finding of 75% of the patients presented a renal failure at the time of the diagnosis of renal involvement suggests that evidence of renal abnormality involvement should be actively sought in this disease. Copyright © 2011 Association Société de néphrologie. Published by Elsevier SAS. All rights reserved.

  5. A 200-year history of Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Xiao-dan WANG


    Full Text Available In 1817, Dr. James Parkinson firstly described the concept, duration, and clinical characteristics of Parkinson's disease (PD. However, it was widely known until 1877 when it was named "Parkinson's disease" by Dr. Jean-Martin Charcot. In 1912, Frederic Henry Lewy, a neuropathologist, found a special abnormal protein in nerve cells of PD patients. Medical profession began to learn about the pathology of PD only when Konstantin Tretiakoff named the special abnormal protein "Lewy body (LB" in 1919 and believed the main lesion of PD was in substantia nigra. In 1867, the German psychiatrist Leopold Ordenstein found that PD patients had symptoms of excitement of parasympathetic nerve, such as salivation, and treated them with belladonna alkaloids, thus creating a precedent for medical treatment of PD. After 1950's, the researchers gradually found that Lewy body was common in substantia nigra and locus coeruleus of PD patients and then gradually determined the pathological features of PD. The Swedish scientist Arvid Carlsson and Japanese neurologist Isamu Sano found dopamine abnormalities in the brain of PD patients, and thus researched and developed levodopa. PD has a history of 200 years, and we expect new research of PD studies. DOI: 10.3969/j.issn.1672-6731.2017.01.002

  6. The role of genealogy and clinical family histories in documenting possible inheritance patterns for diabetes mellitus in the pre-insulin era: part 1. The clinical case of Josephine Imperato. (United States)

    Imperato, Pascal James; Imperato, Gavin H


    Establishing the role of heredity in type 2 diabetes mellitus (type 2 DM) is challenging. While type 2 DM frequently displays a pattern of familial aggregation, many other risk factors are responsible for the clinical expression of the disease. This paper reviews a number of the early twentieth-century studies of inheritance patterns for type 2 DM and presents in detail the history of Josephine Foniciello Imperato (Maria Giuseppa Foniciello) who died from the disease in New York City at the age of 52 years on 14 November 1921, ten months before commercial insulin became available.

  7. Myocardial perfusion abnormalities in asymptomatic patients with systemic lupus erythematosus

    Energy Technology Data Exchange (ETDEWEB)

    Hosenpud, J.D.; Montanaro, A.; Hart, M.V.; Haines, J.E.; Specht, H.D.; Bennett, R.M.; Kloster, F.E.


    Accelerated coronary artery disease and myocardial infarction in young patients with systemic lupus erythematosus is well documented; however, the prevalence of coronary involvement is unknown. Accordingly, 26 patients with systemic lupus were selected irrespective of previous cardiac history to undergo exercise thallium-201 cardiac scintigraphy. Segmental perfusion abnormalities were present in 10 of the 26 studies (38.5 percent). Five patients had reversible defects suggesting ischemia, four patients had persistent defects consistent with scar, and one patient had both reversible and persistent defects in two areas. There was no correlation between positive thallium results and duration of disease, amount of corticosteroid treatment, major organ system involvement or age. Only a history of pericarditis appeared to be associated with positive thallium-201 results (p less than 0.05). It is concluded that segmental myocardial perfusion abnormalities are common in patients with systemic lupus erythematosus. Whether this reflects large-vessel coronary disease or small-vessel abnormalities remains to be determined.

  8. Chromosomal abnormalities are associated with aging and cancer (United States)

    Two new studies have found that large structural abnormalities in chromosomes, some of which have been associated with increased risk of cancer, can be detected in a small fraction of people without a prior history of cancer. The studies found that these

  9. Prevalence of Low Sperm Count and Abnormal Semen Parameters ...

    African Journals Online (AJOL)


    and hot tubs e.t.c. More semen abnormalities identified in civil servants than other professionals in this study are curious, as no association has been found between semen qualities and occupation13. Although there was no history of occupational exposure of our patients to environmental factors that can adversely affect.

  10. Intracranial abnormalities in infantile esotropia detected by magnetic resonance imaging

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    Kori, Yoshifumi [Kochi Prefectural Central Hospital (Japan); Hasebe, Satoru; Otsuki, Hiroshi; Matsuo, Nobuhiko; Sei, Tetsuro


    Twenty-one cases of infantile esotropia were examined for possible intracranial abnormalities by magnetic resonance imaging, MRI. Subnormal findings, which did not seem to be related to the development of infantile esotropia, were detected in 3 cases, 14%. All the three cases had a history of ischemic episodes during the perinatal period. (author)

  11. Maternal antecedents of infants with abnormal head sizes in southwest Nigeria: A community-based study

    Directory of Open Access Journals (Sweden)

    Bolajoko O Olusanya


    Full Text Available Objective: To identify the socio-demographic antecedents and pregnancy-related history of infants with abnormal head sizes in a developing country. Materials and Methods: An observational study of mother-infant pairs attending routine immunization clinics in an inner-city community in Lagos, Nigeria. Age and gender-specific head circumference was determined with the current Child Growth Standards of the World Health Organization (WHO. Factors independently associated with any abnormal head size (z-score 2SD, based on the adjusted odds ratio (OR and 95% confidence interval (CI, were explored with multiple logistic regression analyses. Results: Of the 5731 mothers studied, 730 (12.7% had an offspring with an abnormal head size. In the final regression model, teenage mothers (OR:1.86; CI:1.26 - 2.75, mothers with primary or no education (OR:1.65; P = 0.007, multiple pregnancies (OR:3.88; CI:2.53 - 5.95, and delivery in either private hospitals (OR:1.54; CI:1.22 - 1.95 or residential homes (OR:1.50; CI:1.05 - 2.14, compared to government hospitals, were significantly more likely to have offsprings with abnormal head sizes. Conclusions: Community-oriented public health education, targeting prospective mothers with multiple pregnancies, teenage girls, and women with little or no formal education on the potential risk of delivery outside public hospitals, may curtail the burden of abnormal head size of their offspring and reduce the pressure on the already overstretched rehabilitation services in resource-poor countries.

  12. Additional chromosome abnormalities in chronic myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Hui-Hua Hsiao


    Full Text Available The Philadelphia (Ph chromosome and/or Breakpoint cluster region-Abelson leukemia virus oncogene transcript are unique markers for chronic myeloid leukemia (CML. However, CML demonstrates heterogeneous presentations and outcomes. We analyzed the cytogenetic and molecular results of CML patients to evaluate their correlation with clinical presentations and outcome. A total of 84 newly diagnosed CML patients were enrolled in the study. Patients were treated according to disease status. Bone marrow samples were obtained to perform cytogenetic and molecular studies. Clinical presentations, treatment courses, and survival were reviewed retrospectively. Among 84 patients, 72 had chronic phase and 12 had accelerated phase CML. Cytogenetic study showed 69 (82.1% with the classic Ph chromosome, 6 (7.2% with a variant Ph chromosome, and 9 (10.7% with additional chromosome abnormalities. Fifty-four (64.3% cases harbored b3a2 transcripts, 29 (34.5% had b2a2 transcript, and 1 had e19a2 transcript. There was no difference in clinical presentations between different cytogenetic and molecular groups; however, additional chromosome abnormalities were significantly associated with the accelerated phase. Imatinib therapy was an effective treatment, as measured by cytogenetic response, when administered as first- and second-line therapy in chronic phase patients. Survival analysis showed that old age, additional chromosome abnormalities, high Sokal score, and no cytogenetic response in second-line therapy had a significant poor impact (p<0.05. In conclusion, we presented the cytogenetic and molecular pattern of CML patients and demonstrated that the additional chromosome abnormality was associated with poor outcome.

  13. The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. (United States)

    Wilson, Brian T; Stark, Zornitza; Sutton, Ruth E; Danda, Sumita; Ekbote, Alka V; Elsayed, Solaf M; Gibson, Louise; Goodship, Judith A; Jackson, Andrew P; Keng, Wee Teik; King, Mary D; McCann, Emma; Motojima, Toshino; Murray, Jennifer E; Omata, Taku; Pilz, Daniela; Pope, Kate; Sugita, Katsuo; White, Susan M; Wilson, Ian J


    Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by microcephaly, impaired postnatal growth, and premature pathological aging. It has historically been considered a DNA repair disorder; fibroblasts from classic patients often exhibit impaired transcription-coupled nucleotide excision repair. Previous studies have largely been restricted to case reports and small series, and no guidelines for care have been established. One hundred two study participants were identified through a network of collaborating clinicians and the Amy and Friends CS support groups. Families with a diagnosis of CS could also self-recruit. Comprehensive clinical information for analysis was obtained directly from families and their clinicians. We present the most complete evaluation of Cockayne syndrome to date, including detailed information on the prevalence and onset of clinical features, achievement of neurodevelopmental milestones, and patient management. We confirm that the most valuable prognostic factor in CS is the presence of early cataracts. Using this evidence, we have created simple guidelines for the care of individuals with CS. We aim to assist clinicians in the recognition, diagnosis, and management of this condition and to enable families to understand what problems they may encounter as CS progresses.Genet Med 18 5, 483-493.

  14. Cato Guldberg and Peter Waage, the history of the Law of Mass Action, and its relevance to clinical pharmacology. (United States)

    Ferner, Robin E; Aronson, Jeffrey K


    We have traced the historical link between the Law of Mass Action and clinical pharmacology. The Law evolved from the work of the French chemist Claude Louis Berthollet, was first formulated by Cato Guldberg and Peter Waage in 1864 and later clarified by the Dutch chemist Jacobus van 't Hoff in 1877. It has profoundly influenced our qualitative and quantitative understanding of a number of physiological and pharmacological phenomena. According to the Law of Mass Action, the velocity of a chemical reaction depends on the concentrations of the reactants. At equilibrium the concentrations of the chemicals involved bear a constant relation to each other, described by the equilibrium constant, K. The Law of Mass Action is relevant to various physiological and pharmacological concepts, including concentration-effect curves, dose-response curves, and ligand-receptor binding curves, all of which are important in describing the pharmacological actions of medications, the Langmuir adsorption isotherm, which describes the binding of medications to proteins, activation curves for transmembrane ion transport, enzyme inhibition and the Henderson-Hasselbalch equation, which describes the relation between pH, as a measure of acidity and the concentrations of the contributory acids and bases. Guldberg and Waage recognized the importance of dynamic equilibrium, while others failed to do so. Their ideas, over 150 years old, are embedded in and still relevant to clinical pharmacology. Here we explain the ideas and in a subsequent paper show how they are relevant to understanding adverse drug reactions. © 2015 The British Pharmacological Society.

  15. An outbreak of furniture related dermatitis ('sofa dermatitis') in Finland and the UK: history and clinical cases. (United States)

    Susitaival, P; Winhoven, S M; Williams, J; Lammintausta, K; Hasan, T; Beck, M H; Gruvberger, B; Zimerson, E; Bruze, M


    In February 2007, an epidemic of severe dermatitis from Chinese recliner chairs and sofas started to unfold first in Finland and a few months later in the UK. Some patients reacted in patch tests (PTs) strongly to the material of their furniture, either leather or fabric. There have been hundreds of reports of chair or sofa dermatitis from Finland and the UK, with all cases linked to the same furniture factory in China. Clinical findings in both countries were very similar and unlike any known dermatosis. Many cases have been quite severe, resembling mycosis fungoides or septic infections, requiring hospitalization. Commercial PTs did not reveal the cause but a fungicide was strongly suspected, although such use was denied by the factory. The laboratory of Malmö University Dermatology Clinic has helped in the process by making thin layer chromatograms from sofa or chair materials and test substances of suspected chemicals. Finally, sachets marked with 'mouldproof agent' were found in varying numbers and distribution in the sofas. These contained dimethyl fumarate (DMF) which proved in skin tests to cause strong positive reactions with down to 0.01 dilution. Reports from other countries (Belgium, France, Ireland, Sweden and Spain) have since appeared, and the EU has banned the use of DMF in consumer products.

  16. Extranodal NK/T-cell lymphoma, nasal type (ENKTL-NT): An update on epidemiology, clinical presentation, and natural history in North American and European cases (United States)

    Haverkos, Bradley M.; Pan, Zenggang; Gru, Alejandro A.; Freud, Aharon G.; Rabinovitch, Rachel; Xu-Welliver, Meng; Otto, Brad; Barrionuevo, Carlos; Baiocchi, Robert A.; Rochford, Rosemary; Porcu, Pierluigi


    Extranodal NK/T-cell lymphoma, nasal type (ENKTL-NT) is an aggressive extranodal non-Hodgkin lymphoma most commonly occurring in East Asia and Latin America but with increasing incidence in the U.S. Data on epidemiology, disease presentation, and outcome for European and North American (“Western”) cases are very limited. We review published landmark clinical studies on ENKTL-NT in the West and report in detail recent data, including our institutional experience. We highlight key observations in its epidemiology, natural history, and trends in clinical management. In the U.S., ENKTL-NT is more common among Asian Pacific Islanders (API) and Hispanics compared to non-Hispanic whites. Published studies indicate less heterogeneity in clinical presentation in Western ENKTL-NT compared to Asian patients. While there is variation in age at diagnosis, presence of antecedent lymphoproliferative disorders, and outcomes among racial/ethnic groups, the universal association of ENKTL-NT with EBV and the poor response of this neoplasm to anthracycline-based therapy are consistent across all geographic areas. PMID:27778143

  17. MRI does not add value over and above patient history and clinical examination in predicting time to return to sport after acute hamstring injuries: a prospective cohort of 180 male athletes

    NARCIS (Netherlands)

    Wangensteen, Arnlaug; Almusa, Emad; Boukarroum, Sirine; Farooq, Abdulaziz; Hamilton, Bruce; Whiteley, Rodney; Bahr, Roald; Tol, Johannes L.


    MRI is frequently used in addition to clinical evaluation for predicting time to return to sport (RTS) after acute hamstring injury. However, the additional value of MRI to patient history taking and clinical examination remains unknown and is debated. To prospectively investigate the predictive

  18. Early Pregnancy Diabetes Screening and Diagnosis: Prevalence, Rates of Abnormal Test Results, and Associated Factors. (United States)

    Mission, John F; Catov, Janet; Deihl, Tiffany E; Feghali, Maisa; Scifres, Christina


    To evaluate the prevalence of early diabetes screening in pregnancy, rates of abnormal diabetes test results before 24 weeks of gestation, and factors associated with early diabetes screening. This was a retrospective cohort study of all singleton deliveries from 2012 to 2014 among diverse clinical practices at a large academic medical center. We assessed rates of early (less than 24 weeks of gestation) and routine (at or beyond 24 weeks of gestation) diabetes screening, with abnormal test results defined using the Carpenter-Coustan criteria, a 50-g glucose challenge test result greater than 200 mg/dL, or a hemoglobin A1C level greater than 6.5%. Univariate and multivariate analyses were used to evaluate clinical and demographic determinants of screening and diagnosis. Overall, 1,420 of 11,331 (12.5%) women underwent early screening. Increasing body mass index (BMI) category, race, public insurance, history of gestational diabetes mellitus, a family history of diabetes, and chronic hypertension were associated with early screening. Early screening rates rose with increasing BMI category, but only 268 of 551 (48.6%) of women with class III obesity underwent early screening. Among those screened early, 2.0% of normal-weight women, 4.0% of overweight women, 4.2% of class I obese women, 3.8% of class II obese women, and 9.0% of class III obese women had abnormal early test results (PEarly diabetes screening is used inconsistently, and many women with risk factors do not undergo early screening. A significant proportion of women with class III obesity will test positive for gestational diabetes mellitus before 24 weeks of gestation, and studies are urgently needed to assess the effect of early diabetes screening and diagnosis on perinatal outcomes in high-risk women.

  19. Clinical and diagnosis characteristics of breast cancers in women with a history of radiotherapy in the first 30years of life: A French multicentre cohort study. (United States)

    Demoor-Goldschmidt, C; Supiot, S; Oberlin, O; Helfre, S; Vigneron, C; Brillaud-Meflah, V; Bernier, V; Laprie, A; Ducassou, A; Claude, L; Mahé, M A; de Vathaire, F


    Irradiation (>3Gy) to the breast or axillae before 30years of age increases the risk of secondary breast cancer (SBC). The purpose of this article is to describe the clinical characteristics of SBC and the way of diagnosis in young women (before the age of national screening) in France who had received previous radiotherapy for a childhood or a young adulthood cancer. This retrospective, multicentre study reviewed the medical records of women with SBC before the age of the national screening who had received irradiation (≥3Gy) on part or all of the breast before 30years of age, for any type of tumour except BC. A total of 121 SBC were detected in 104 women with previous radiotherapy. Twenty percent of SBC were detected during regular breast screening and 16% of the women had a regular radiological follow-up. Our results points out that the main proportion of childhood cancer survivors did not benefit from the recommended breast cancer screening. This result is comparable to other previously published studies in other countries. A national screening programme is necessary and should take into account the patient's age, family history, personal medical history and previous radiotherapy to reduce the number of SBC diagnosed at an advanced stage. Copyright © 2017. Published by Elsevier B.V.

  20. Roentgenologic abnormalities in Down's syndrome

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    Higuchi, Takehiko; Russell, W.J.; Komatsuda, Michio; Neriishi, Shotaro


    Roentgenograms of 28 patients with Down's syndrome were reviewed with emphasis on all previously reported abnormalities and any possible additional ones. Most of the abnormalities occurred with the same frequency as previously reported, but some less frequently reported findings were also seen. One abnormal vertebral measurement found in this series may be an additional stigma of Down's syndrome. All of the 27 cases studied cytogenetically had chromosomal abnormalities consistent with this disease. This study emphasizes the need for roentgenologic norms for the Japanese, and the desirability of combining chromosome studies with roentgenological abnormalities and clinical observations in diagnosing Down's syndrome. 19 references, 2 figures, 5 tables.

  1. Chest radiographic abnormalities in HIV-infected African children: a longitudinal study. (United States)

    Pitcher, Richard D; Lombard, Carl J; Cotton, Mark F; Beningfield, Stephen J; Workman, Lesley; Zar, Heather J


    There is limited knowledge of chest radiographic abnormalities over time in HIV-infected children in resource-limited settings. To investigate the natural history of chest radiographic abnormalities in HIV-infected African children, and the impact of antiretroviral therapy (ART). Prospective longitudinal study of the association of chest radiographic findings with clinical and immunological parameters. Chest radiographs were performed at enrolment, 6-monthly, when initiating ART and if indicated clinically. Radiographic abnormalities were classified as normal, mild or moderate severity and considered persistent if present for 6 consecutive months or longer. An ordinal multiple logistic regression model assessed the association of enrolment and time-dependent variables with temporal radiographic findings. 258 children (median (IQR) age: 28 (13-51) months; median CD4+%: 21 (15-24)) were followed for a median of 24 (18-42) months. 70 (27%) were on ART at enrolment; 130 (50%) (median age: 33 (18-56) months) commenced ART during the study. 154 (60%) had persistent severe radiographic abnormalities, with median duration 18 (6-24) months. Among children on ART, 69% of radiographic changes across all 6-month transition periods were improvements, compared with 45% in those not on ART. Radiographic severity was associated with previous radiographic severity (OR=120.80; 95% CI 68.71 to 212.38), lack of ART (OR=1.72; 95% CI 1.29 to 2.27), enrolment age ART was beneficial, reducing the risk of radiographic deterioration or increasing the likelihood of radiological improvement. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to

  2. Human embryos commonly form abnormal nuclei during development: a mechanism of DNA damage, embryonic aneuploidy, and developmental arrest. (United States)

    Kort, Daniel H; Chia, Gloryn; Treff, Nathan R; Tanaka, Akemi J; Xing, Tongji; Vensand, Lauren Bauer; Micucci, Stephanie; Prosser, Robert; Lobo, Roger A; Sauer, Mark V; Egli, Dieter


    What is the prevalence and developmental significance of morphologic nuclear abnormalities in human preimplantation embryos? Nuclear abnormalities are commonly found in human IVF embryos and are associated with DNA damage, aneuploidy, and decreased developmental potential. Early human embryonic development is complicated by genomic errors that occur after fertilization. The appearance of extra-nuclear DNA, which has been observed in IVF, may be a result of such errors. However, the mechanism by which abnormal nuclei form and the impact on DNA integrity and embryonic development is not understood. Cryopreserved human cleavage-stage embryos (n = 150) and cryopreserved blastocysts (n = 105) from clinical IVF cycles performed between 1997 and 2008 were donated for research. Fresh embryos (n = 60) of poor quality that were slated for discard were also used. Immunohistochemical, microscopic and cytogenetic analyses at different developmental stages and morphologic grades were performed. Embryos were fixed and stained for DNA, centromeres, mitotic activity and DNA damage and imaged using confocal microscopy. Rates of abnormal nuclear formation were compared between morphologically normal cleavage-stage embryos, morphologically normal blastocysts, and poor quality embryos. To control for clinical and IVF history of oocytes donors, and quality of frozen embryos within our sample, cleavage-stage embryos (n = 52) were thawed and fixed at different stages of development and then analyzed microscopically. Cleavage-stage embryos (n = 9) were thawed and all blastomeres (n = 62) were disaggregated, imaged and analyzed for karyotype. Correlations were made between microscopic and cytogenetic findings of individual blastomeres and whole embryos. The frequency of microscopic nuclear abnormalities was lower in blastocysts (5%; 177/3737 cells) than in cleavage-stage embryos (16%, 103/640 blastomeres, P < 0.05) and highest in arrested embryos (65%; 44/68 blastomeres, P < 0.05). DNA

  3. Next generation quality: Assessing the physician in clinical history completeness and diagnostic interpretations using funnel plots and normalized deviations plots in 3,854 prostate biopsies

    Directory of Open Access Journals (Sweden)

    Michael Bonert


    Full Text Available Background: Observational data and funnel plots are routinely used outside of pathology to understand trends and improve performance. Objective: Extract diagnostic rate (DR information from free text surgical pathology reports with synoptic elements and assess whether inter-rater variation and clinical history completeness information useful for continuous quality improvement (CQI can be obtained. Methods: All in-house prostate biopsies in a 6-year period at two large teaching hospitals were extracted and then diagnostically categorized using string matching, fuzzy string matching, and hierarchical pruning. DRs were then stratified by the submitting physicians and pathologists. Funnel plots were created to assess for diagnostic bias. Results: 3,854 prostate biopsies were found and all could be diagnostically classified. Two audits involving the review of 700 reports and a comparison of the synoptic elements with the free text interpretations suggest a categorization error rate of 40 cases and together assessed 3,690 biopsies. There was considerable inter-rater variability and a trend toward more World Health Organization/International Society of Urologic Pathology Grade 1 cancers in older pathologists. Normalized deviations plots, constructed using the median DR, and standard error can elucidate associated over- and under-calls for an individual pathologist in relation to their practice group. Clinical history completeness by submitting medical doctor varied significantly (100% to 22%. Conclusion: Free text data analyses have some limitations; however, they could be used for data-driven CQI in anatomical pathology, and could lead to the next generation in quality of care.

  4. Behavioral correlates of epileptiform abnormalities in autism. (United States)

    Trauner, Doris A


    There is a high incidence of epileptiform abnormalities in children with autism even in the absence of clinical seizures. These findings are most prominent during sleep recordings. The significance of these abnormalities is unclear. Although studies do not all agree, there may be some association between cognitive function, behavior, and the presence or absence of epileptiform discharges. Small studies of anticonvulsant treatment mostly suggest an improvement in certain aspects of cognitive or behavioral functioning in these children, but larger and more comprehensive studies are needed to determine the potential relationship between epileptiform discharges on EEG, cognitive and behavioral functioning, and treatment effects in the population with autism. This article is part of a Special Issue entitled "Autism and Epilepsy". Copyright © 2014 Elsevier Inc. All rights reserved.


    Directory of Open Access Journals (Sweden)

    Luigi Montesano


    Full Text Available The introduction of free flaps with microsurgical vascular anastomosis has made reconstructions, that would have been considered impossible forty years ago, possible. The limitations of this technique are mainly due to necrosis of the transplanted tissue caused by blockage of the vessels of the flap’s vascular pedicle due to the formation of thrombi at the level of the surgical anastomosis. Thrombosis is handled by removing the thrombus in the shortest possible time, thus allowing restoration of the blood flow. Currently clinical observation is the best way to evaluate the survival of a flap but, being subjective, it is dependent on the observer’s experience. The purpose of this study is to identify the first sure sign of venous thrombosis in a murine model of complete venous occlusion of the pedicle of an inguinal flap, postoperatively and after the restoration of blood flow following a period of stasis; so as to simulate the monitoring of re-thrombosis after recanalization of a thrombosed anastomosis.

  6. Localized low-dose radiotherapy for follicular lymphoma: history, clinical results, mechanisms of action, and future outlooks. (United States)

    Ganem, Gérard; Cartron, Guillaume; Girinsky, Théodore; Haas, Rick L M; Cosset, Jean Marc; Solal-Celigny, Philippe


    The extreme radiosensitivity of indolent lymphomas was reported in the early years of radiotherapy (RT). The efficacy of low-dose total body irradiation (1.5-2 Gy) was particularly demonstrative. Higher doses were considered appropriate for localized disease. The optimal (or conventional) dose of curative RT derived from the early studies was determined to be 30-35 Gy. Nevertheless, in older series addressing the tumoricidal radiation dose in non-Hodgkin's lymphomas, investigators noted that a significant number of "nodular" lymphomas were controlled with a dose of 3 years. The idea of reintroducing localized low-dose radiotherapy (LDRT) for indolent non-Hodgkin's lymphomas came from a clinical observation. The first study showing the high efficacy of LDRT (4 Gy in two fractions of 2 Gy within 3 days) in selected patients with chemoresistant, indolent, non-Hodgkin's lymphomas was published in 1994. Since this first report, at least eight series of patients treated with localized LDRT have been published, showing a 55% complete response rate in irradiated sites, with a median duration of 15-42 months. How LDRT induces lymphoma cell death remains partly unknown. However, some important advances have recently been reported. Localized LDRT induces an apoptosis of follicular lymphoma cells. This apoptotic cell death elicits an immune response mediated by macrophages and dendritic cells. Follicular lymphoma is probably an ideal model to explore these mechanisms. This review also discusses the future of LDRT for follicular lymphoma. Copyright © 2010 Elsevier Inc. All rights reserved.

  7. Coagulation abnormalities in sepsis. (United States)

    Tsao, Cheng-Ming; Ho, Shung-Tai; Wu, Chin-Chen


    Although the pathophysiology of sepsis has been elucidated with the passage of time, sepsis may be regarded as an uncontrolled inflammatory and procoagulant response to infection. The hemostatic changes in sepsis range from subclinical activation of blood coagulation to acute disseminated intravascular coagulation (DIC). DIC is characterized by widespread microvascular thrombosis, which contributes to multiple organ dysfunction/failure, and subsequent consumption of platelets and coagulation factors, eventually causing bleeding manifestations. The diagnosis of DIC can be made using routinely available laboratory tests, scoring algorithms, and thromboelastography. In this cascade of events, the inhibition of coagulation activation and platelet function is conjectured as a useful tool for attenuating inflammatory response and improving outcomes in sepsis. A number of clinical trials of anticoagulants were performed, but none of them have been recognized as a standard therapy because recombinant activated protein C was withdrawn from the market owing to its insufficient efficacy in a randomized controlled trial. However, these subgroup analyses of activated protein C, antithrombin, and thrombomodulin trials show that overt coagulation activation is strongly associated with the best therapeutic effect of the inhibitor. In addition, antiplatelet drugs, including acetylsalicylic acid, P2Y12 inhibitors, and glycoprotein IIb/IIIa antagonists, may reduce organ failure and mortality in the experimental model of sepsis without a concomitant increased bleeding risk, which should be supported by solid clinical data. For a state-of-the-art treatment of sepsis, the efficacy of anticoagulant and antiplatelet agents needs to be proved in further large-scale prospective, interventional, randomized validation trials. Copyright © 2014. Published by Elsevier B.V.

  8. Transient Ischemic Attack in Pediatric Patients With Moyamoya Disease: Clinical Features, Natural History, and Predictors of Stroke. (United States)

    Zhao, Meng; Zhang, Dong; Wang, Shuo; Zhang, Yan; Wang, Rong; Zhao, Jizong


    Despite being the most common presentation in children with moyamoya, transient ischemic attack (TIA) in children has rarely been described. The aim of this study is to describe the clinical characteristics of TIAs in children with moyamoya and explore the risk factors for stroke after TIA. We reviewed 696 consecutive patients with moyamoya vasculopathy (155 pediatric patients and 541 adults) admitted to our hospital from 2009 to 2015 to identify pediatric patients with moyamoya with an initial presentation of TIA. We defined recurrent TIAs that involve more types of symptoms or symptom extensions as symptom progression. The risk factors for subsequent stroke were analyzed using time-to-event analyses. We identified 60 pediatric patients with moyamoya who had presented with TIA (initial presentation age, 10.0 ± 3.5 years). Motor weakness (n = 51 [85%]) was the most common initial presentation. During follow-up, 55 patients (91.7%) had recurrent TIAs and 14 (23.3%) had subsequent strokes. We identified female gender (hazard ratio, 5.08; 95% confidence interval, 1.40-18.47; P = 0.01), Suzuki grade greater than 3 (hazard ratio, 4.01; 95% confidence interval, 1.16-13.82; P = 0.03), and symptom progression (hazard ratio, 5.31; 95% confidence interval, 1.65-17.14; P = 0.01) as independent predictors of future stroke events. Transient ischemic attacks have a relatively high recurrence rate in children with moyamoya and are associated with subsequent stroke. We identified the female sex, Suzuki grade greater than  3, and symptom progression as independent predictors of future strokes. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Opioid pharmacovigilance: A clinical-social history of the changes in opioid prescribing for patients with co-occurring chronic non-cancer pain and substance use. (United States)

    Knight, Kelly R; Kushel, Margot; Chang, Jamie S; Zamora, Kara; Ceasar, Rachel; Hurstak, Emily; Miaskowski, Christine


    There is growing concern among US-based clinicians, patients, policy makers, and in the media about the personal and community health risks associated with opioids. Perceptions about the efficacy and appropriateness of opioids for the management of chronic non-cancer pain (CNCP) have dramatically transformed in recent decades. Yet, there is very little social scientific research identifying the factors that have informed this transformation from the perspectives of prescribing clinicians. As part of an on-going ethnographic study of CNCP management among clinicians and their patients with co-occurring substance use, we interviewed 23 primary care clinicians who practice in safety-net clinical settings. In this paper, we describe the clinical and social influences informing three historic periods: (1) the escalation of opioid prescriptions for CNCP; (2) an interim period in which the efficacy of and risks associated with opioids were re-assessed; and (3) the current period of "opioid pharmacovigilance," characterized by the increased surveillance of opioid prescriptions. Clinicians reported that interpretations of the evidence-base in favor of and opposing opioid prescribing for CNCP evolved within a larger clinical-social context. Historically, pharmaceutical marketing efforts and clinicians' concerns about racialized healthcare disparities in pain treatment influenced opioid prescription decision-making. Clinicians emphasized how patients' medical complexity (e.g. multiple chronic health conditions) and structural vulnerability (e.g. poverty, community violence) impacted access to opioids within resource-limited healthcare settings. This clinical-social history of opioid prescribing practices helps to elucidate the ongoing challenges of CNCP treatment in the US healthcare safety net and lends needed specificity to the broader, nationwide conversation about opioids. Copyright © 2017 Elsevier Ltd. All rights reserved.

  10. Surgical outcomes and natural history of intramedullary spinal cord cavernous malformations: a single-center series and meta-analysis of individual patient data: Clinic article. (United States)

    Badhiwala, Jetan H; Farrokhyar, Forough; Alhazzani, Waleed; Yarascavitch, Blake; Aref, Mohammed; Algird, Almunder; Murty, Naresh; Kachur, Edward; Cenic, Aleksa; Reddy, Kesava; Almenawer, Saleh A


    Information pertaining to the natural history of intramedullary spinal cord cavernous malformations (ISCCMs) and patient outcomes after surgery is scarce. To evaluate factors associated with favorable outcomes for patients with surgically and conservatively managed ISCCMs, the authors performed a systematic review and metaanalysis of the literature. In addition, they included their single-center series of ISCCMs. The authors searched MEDLINE, EMBASE, CINAHL, Google Scholar, and The Cochrane Library for studies published through June 2013 that reported cases of ISCCMs. Data from all eligible studies were used to examine the epidemiology, clinical features, and neurological outcomes of patients with surgically managed and conservatively treated ISCCMs. To evaluate several variables as predictors of favorable neurological outcomes, the authors conducted a meta-analysis of individual patient data and performed univariate and multivariate logistic regression analyses. Variables included patient age, patient sex, lesion spinal level, lesion size, cerebral cavernomas, family history of cavernous malformations, clinical course, presenting symptoms, treatment strategy (operative or conservative), symptom duration, surgical approach, spinal location, and extent of resection. In addition, they performed a meta-analysis to determine a pooled estimate of the annual hemorrhage rate of ISCCMs. Eligibility criteria were met by 40 studies, totaling 632 patients, including the authors' institutional series of 24 patients. Mean patient age was 39.1 years (range 2-80 years), and the male-to-female ratio was 1.1:1. Spinal levels of cavernomas were cervical (38%), cervicothoracic (2.4%), thoracic (55.2%), thoracolumbar (0.6%), lumbar (2.1%), and conus medullaris (1.7%). Average cavernoma size was 9.2 mm. Associated cerebral cavernomas occurred in 16.5% of patients, and a family history of cavernous malformation was found for 11.9% of evaluated patients. Clinical course was acute with

  11. Abnormal lung gallium-67 uptake preceding pulmonary physiologic impairment in an asymptomatic patient with Pneumocystis carinii pneumonia

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    Reiss, T.F.; Golden, J. (Univ. of California, San Francisco (USA))


    Pneumocystis carinii pneumonia was suggested by a diffuse, bilateral pulmonary uptake of gallium-67 in an asymptomatic, homosexual male with the antibody to the immunodeficiency virus (HIV) who was undergoing staging evaluation for lymphoma clinically localized to a left inguinal lymph node. Chest radiograph and pulmonary function evaluation, including lung volumes, diffusing capacity and arterial blood gases, were within normal limits. Bronchoalveolar lavage revealed Pneumocystis carinii organisms. In this asymptomatic, HIV-positive patient, active alveolar infection, evidenced by abnormal gallium-67 scanning, predated pulmonary physiologic abnormalities. This observation raises questions concerning the natural history of this disease process and the specificity of physiologic tests for excluding disease. It also has implications for the treatment of neoplasia in the HIV-positive patient population.

  12. “Dazed and diffused”: making sense of diffusion abnormalities in neurologic pathologies


    O'Connor, K M; Barest, G; Moritani, T; Sakai, O.; Mian, A


    To review diffusion abnormalities seen in diffusion-weighted MRI in neurological pathologies. We examine the clinical significance of the abnormalities in a broad spectrum of neurological diseases and highlight our current understanding of their causes. Diffusion abnormalities seen on diffusion-weighted MRI can play an important role in the diagnosis and follow-up of a broad spectrum of neurological diseases. A thorough understanding of the appearance and significance of these abnormalities i...

  13. Cardiac Arrhythmias and Abnormal Electrocardiograms After Acute Stroke. (United States)

    Ruthirago, Doungporn; Julayanont, Parunyou; Tantrachoti, Pakpoom; Kim, Jongyeol; Nugent, Kenneth


    Cardiac arrhythmias and electrocardiogram (ECG) abnormalities occur frequently but are often underrecognized after strokes. Acute ischemic and hemorrhagic strokes in some particular area of brain can disrupt central autonomic control of the heart, precipitating cardiac arrhythmias, ECG abnormalities, myocardial injury and sometimes sudden death. Identification of high-risk patients after acute stroke is important to arrange appropriate cardiac monitoring and effective management of arrhythmias, and to prevent cardiac morbidity and mortality. More studies are needed to better clarify pathogenesis, localization of areas associated with arrhythmias and practical management of arrhythmias and abnormal ECGs after acute stroke. Copyright © 2016 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

  14. Two approaches to the clinical dilemma of treating TTP with therapeutic plasma exchange in patients with a history of anaphylactic reactions to plasma. (United States)

    Sidhu, Davinder; Snyder, Edward L; Tormey, Christopher A


    Thrombotic thrombocytopenic purpura (TTP) is a rare but serious disease caused by autoantibody-mediated deficiency in von Willebrand factor (VWF) cleaving protease, ADAMTS-13. The primary acute treatment is therapeutic plasma exchange (TPE). However, some patients can develop allergic/anaphylactic reactions to the replacement (i.e., donor) plasma over time. Two potential treatment strategies for patients with TTP who demonstrate severe allergic reactions to plasma used for exchange were examined. Two patients with TTP exacerbations who developed severe allergic reactions to donor plasma were identified. One patient's TPE was re-initiated with Octaplas, a lot-batched solvent and detergent treated, type-specific, pooled donor plasma product. The other patient was exchanged with primarily albumin, followed by slow incremental exposures to donor plasma to mitigate exposures and allergic risks. Both patients were assessed for anaphylaxis. Both treatment strategies were successful in preventing any further clinically significant allergic/anaphylactic reactions and facilitated both patients' TTP remissions. Based on our experience with two similar patients with TTP exacerbations and history of anaphylactic reactions to plasma during TPE, we have identified two possible treatment protocols to achieve remission in this clinical dilemma. Substituting Octaplas for standard plasma or, alternatively, using albumin with slowly increasing amounts of standard plasma may help to mitigate the risk of further anaphylactic adverse events. J. Clin. Apheresis 32:158-162, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  15. Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy : preparation for gene therapy clinical trial. (United States)

    Lam, Byron L; Feuer, William J; Schiffman, Joyce C; Porciatti, Vittorio; Vandenbroucke, Ruth; Rosa, Potyra R; Gregori, Giovanni; Guy, John


    IMPORTANCE Establishing the natural history of G11778A Leber hereditary optic neuropathy (LHON) is important to determine the optimal end points to assess the safety and efficacy of a planned gene therapy trial. OBJECTIVE To use the results of the present natural history study of patients with G11778A LHON to plan a gene therapy clinical trial that will use allotopic expression by delivering a normal nuclear-encoded ND4 gene into the nuclei of retinal ganglion cells via an adeno-associated virus vector injected into the vitreous. DESIGN, SETTING, AND PARTICIPANTS A prospective observational study initiated in 2008 was conducted in primary and referral institutional practice settings. Participants included 44 individuals with G11778A LHON, recruited between September 2008 and March 2012, who were evaluated every 6 months and returned for 1 or more follow-up visits (6-36 months) as of August 2012. EXPOSURES Complete neuro-ophthalmic examination and main measures. MAIN OUTCOMES AND MEASURES Visual acuity, automated visual field testing, pattern electroretinogram, and spectral-domain optical coherence tomography. RESULTS Clinical measures were stable during the follow-up period, and visual acuity was as good as or better than the other visual factors used for monitoring patients. Based on a criterion of 15 or more letters from the Early Treatment Diabetic Retinopathy Study chart, 13 eyes of 8 patients (18%) improved, but 24 months after the onset of symptoms, any further improvements were to no better than 20/100. Acuity recovery occurred in some patients despite continued marked retinal nerve fiber layer thinning indistinguishable from that in patients who did not recover visual acuity. CONCLUSIONS AND RELEVANCE Spontaneous improvement of visual acuity in patients with G11778A LHON is not common and is partial and limited when it occurs, so improvements in vision with adeno-associated virus-mediated gene therapy of a synthetic wild-type ND4 subunit gene should be

  16. Prevalence of abnormal liver function tests in rheumatoid arthritis ...

    African Journals Online (AJOL)

    Objective: To determine the prevalence of Abnormal Liver Function Tests (LFTs) in patients with rheumatoid arthritis at the rheumatology out-patient clinic, Kenyatta National Hospital (KNH). Design: Cross-sectional descriptive study. Setting: Rheumatology out-patient clinic at KNH. Participants: One hundred and seven RA ...

  17. Serial cerebral CT abnormalities in relapsing acute disseminated encephalomyelitis. (United States)

    Walker, R W; Gawler, J


    A 7 year old girl developed acute disseminated encephalomyelitis following a Mycoplasma pneumoniae respiratory infection. The illness followed a relapsing course during the first two months. Computed tomography (CT) showed cerebral lesions of a severity and extent out of proportion to the clinical manifestations. The CT abnormalities altered with changes in her clinical state. Images PMID:2795082

  18. Recurrent Cytogenetic Abnormalities in Acute Myeloid Leukemia. (United States)

    Yang, John J; Park, Tae Sung; Wan, Thomas S K


    The spectrum of chromosomal abnormality associated with leukemogenesis of acute myeloid leukemia (AML) is broad and heterogeneous when compared to chronic myeloid leukemia and other myeloid neoplasms. Recurrent chromosomal translocations such as t(8;21), t(15;17), and inv(16) are frequently detected, but hundreds of other uncommon chromosomal aberrations from AML also exist. This chapter discusses 22 chromosomal abnormalities that are common structural, numerical aberrations, and other important but infrequent (less than 1 %) translocations emphasized in the WHO classification. Brief morphologic, cytogenetic, and clinical characteristics are summarized, so as to provide a concise reference to cancer cytogenetic laboratories. Morphology based on FAB classification is used together with the current WHO classification due to frequent mentioning in a vast number of reference literatures. Characteristic chromosomal aberrations of other myeloid neoplasms such as myelodysplastic syndrome and myeloproliferative neoplasm will be discussed in separate chapters-except for certain abnormalities such as t(9;22) in de novo AML. Gene mutations detected in normal karyotype AML by cutting edge next generation sequencing technology are also briefly mentioned.

  19. Effect of Fentanyl with Lidocaine on Hemodynamical Stability of Patients with History of Hypertension in TURP Surgery: A Double Blind Controlled Clinical Trial

    Directory of Open Access Journals (Sweden)

    M. Saheban Maleki


    Full Text Available Aims: Some severe hemodynamic changes are known as problems due to 5% lidocaine spinal anesthesia at the elderly. Such changes, also, may lead to the cardio-vascular or renal problems. The aim of this study was to compare between the hemodynamic changes in two spinal-cord anesthesia methods with 5% lidocaine (the current method and with low 5% lidocaine dose with 50μg fentanyl in the elderly patients with a systemic blood-pressure increase history in the transurethral resection of the prostate (TURP. Materials & Methods: In the two-blinded clinical trial, 148 patients aged more than 50 years with benign prostate hypertrophy, who had referred to 15th of Khordad Hospital of Gonabad for TURP between 2011 and 2012, were studied. The subjects, selected via simple random sampling method, were randomly divided into two groups (n=74 per group. The first and the second groups underwent spinal-cord anesthesia with the administrations of 5% lidocaine (2cc; 100mg and 5% lidocaine (1cc; 50mg + fentanyl (1cc; 50μg, respectively. Blood-pressure and heart-rate were recorded immediately after the anesthesia and at every 5 minutes. Data was analyzed by SPSS 21 software using independent T and Fisher’s exact tests. Findings: Mean reductions in the systolic and the diastolic blood-pressures (p<0.001 and mean reduction in the heart-rate (p=0.009 in lidocaine+fentanyl group were significantly lower than lidocaine group. In lidocaine group, ephedrine and atropine administrations were required in 26 and 19 patients, respectively. Nevertheless, no administration either of ephedrine or of atropine was required in lidocaine + fentanyl group (p<0.001. Conclusion: Without any hemodynamic instability, low lidocaine dose (50mg with fentanyl (50μg may result in sufficient anesthesia and no-pain in the elderly patients with a history of controlled high-pressure, who undergo TURP.

  20. Predictive value of abnormal physical examination findings in ill-appearing and well-appearing febrile children. (United States)

    McCarthy, P L; Lembo, R M; Baron, M A; Fink, H D; Cicchetti, D V


    In order to study the occurrence and positive predictive value of history and physical examination findings suggestive of serious illness in ill-appearing and well-appearing febrile children, 103 consecutive children aged less than or equal to 24 months with fever greater than or equal to 38.3 degrees C were evaluated from July 1, 1982 to Nov 24, 1982. Patients were initially classified by an attending physician (A) as to whether they appeared ill (Yale Observation Scale score greater than 10) or well (scale score less than or equal to 10). The history was then taken by two attending physicians (A and B) and a resident; the physical examination was performed by attending physician B and the same resident. As history and physical examination findings were elicited, they were scored as to whether they did or did not suggest a serious illness. Serious illness was defined as the presence of a positive laboratory test. Ill-appearing patients had a significantly greater (P less than .001, Fisher's exact test) occurrence of physical examination findings suggesting serious illness (14 of 22, 64%) than well-appearing children (12 of 81, 15%). The positive predictive values of abnormal physical examination findings for serious illness in ill-appearing (11 of 14, 79%) and well-appearing children (3 of 12, 25%) were significantly different (P = .02 by Fisher's exact test). The trends for abnormal history findings in ill-appearing and well-appearing children were similar to those for abnormal physical examination findings but did not achieve statistical significance. The results, indicating an important interaction between a febrile child's appearance and physical examination findings, are discussed in terms of probability reasoning in clinical decision making.

  1. Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis. (United States)

    Mademont-Soler, I; Morales, C; Soler, A; Martínez-Crespo, J M; Shen, Y; Margarit, E; Clusellas, N; Obón, M; Wu, B L; Sánchez, A


    To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray-based analysis (CMA) in the study of such pregnancies. First, we carried out retrospective analysis of karyotype abnormalities and 22q11.2 deletion syndrome cases diagnosed between January 2009 and December 2011 in our center among fetuses with abnormal cardiac ultrasound findings (n = 276). Second, CMA was performed in 51 of the fetuses with such findings, normal karyotype and negative or no 22q11.2 deletion syndrome study, and in the only fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement. Out of the 276 pregnancies with abnormal cardiac ultrasound findings, karyotyping revealed a chromosomal abnormality in 44 (15.9%). Of fetuses with normal karyotype in which 22q11.2 deletion syndrome studies were performed, 6.4% (5/78) had this microdeletion syndrome. Among fetuses with abnormal cardiac findings, normal karyotype and negative or no 22q11.2 deletion syndrome study that underwent CMA, the detection rate of pathogenic copy number variants not detected by conventional cytogenetics was 2.0% (1/51), and no variants of uncertain clinical significance were found. In the fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement, CMA revealed that the rearrangement was not truly balanced. In the assessment of genetic abnormalities in pregnancies with abnormal cardiac ultrasound findings, the diagnostic yield may be increased by 2% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA could be a good alternative to karyotyping in these pregnancies. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.

  2. Neurofibromatosis: chronological history and current issues* (United States)

    Antônio, João Roberto; Goloni-Bertollo, Eny Maria; Trídico, Lívia Arroyo


    Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs. The disease may manifest in several ways and it can vary from individual to individual. Given the wealth of information about neurofibromatosis, we attempted to present this information in different ways. In the first part of this work, we present a chronological history, which describes the evolution of the disease since the early publications about the disorder until the conclusion of this work, focusing on relevant aspects which can be used by those wishing to investigate this disease. In the second part, we present an update on the various aspects that constitute this disease. PMID:23793209

  3. Neurofibromatosis: chronological history and current issues. (United States)

    Antônio, João Roberto; Goloni-Bertollo, Eny Maria; Trídico, Lívia Arroyo


    Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs. The disease may manifest in several ways and it can vary from individual to individual. Given the wealth of information about neurofibromatosis, we attempted to present this information in different ways. In the first part of this work, we present a chronological history, which describes the evolution of the disease since the early publications about the disorder until the conclusion of this work, focusing on relevant aspects which can be used by those wishing to investigate this disease. In the second part, we present an update on the various aspects that constitute this disease.

  4. Abnormal glucose tolerance and lipid abnormalities in Indian ...

    African Journals Online (AJOL)

    quency of abnormal glucose tolerance (impaired glucose tole- rance and diabetes mellitus) in Indian patients with CAD is similar to that in White patients.9 However, with respect to the lipid profile there have been conflicting reports; hypercholeste- rolaemia was present in 37% ofthe series described by McKech- nie' and ...

  5. The effect of experimental low back pain on lumbar muscle activity in people with a history of clinical low back pain: a muscle functional MRI study. (United States)

    Danneels, Lieven; Cagnie, Barbara; D'hooge, Roseline; De Deene, Yves; Crombez, Geert; Vanderstraeten, Guy; Parlevliet, Thierry; Van Oosterwijck, Jessica


    In people with a history of low back pain (LBP), structural and functional alterations have been observed at several peripheral and central levels of the sensorimotor pathway. These existing alterations might interact with the way the sensorimotor system responds to pain. We examined this assumption by evaluating the lumbar motor responses to experimental nociceptive input of 15 participants during remission of unilateral recurrent LBP. Quantitative T2 images (muscle functional MRI) were taken bilaterally of multifidus, erector spinae, and psoas at several segmental levels (L3 upper and L4 upper and lower endplate) and during several conditions: 1) at rest, 2) upon trunk-extension exercise without pain, and 3) upon trunk-extension exercise with experimental induced pain at the clinical pain-side (1.5-ml intramuscular hypertonic saline injections in erector spinae). Following experimental pain induction, muscle activity levels similarly reduced for all three muscles, on both painful and nonpainful sides, and at multiple segmental levels (P = 0.038). Pain intensity and localization from experimental LBP were similar as during recalled clinical LBP episodes. In conclusion, unilateral and unisegmental experimental LBP exerts a generalized and widespread decrease in lumbar muscle activity during remission of recurrent LBP. This muscle response is consistent with previous observed patterns in healthy people subjected to the same experimental pain paradigm. It is striking that similar inhibitory patterns in response to pain could be observed, despite the presence of preexisting alterations in the lumbar musculature during remission of recurrent LBP. These results suggest that motor output can modify along the course of recurrent LBP. Copyright © 2016 the American Physiological Society.

  6. Utility of prechemotherapy echocardiographical assessment of cardiac abnormalities. (United States)

    Karanth, Narayan V; Roy, Amitesh; Joseph, Majo; de Pasquale, Carmine; Karapetis, Christos; Koczwara, Bogda


    Echocardiography provides both morphological and functional information offering a potential advantage over nuclear medicine gated blood pool scans which only estimate ejection fraction. This additional information may be relevant to management of patients receiving potentially cardiotoxic cancer treatment. We retrospectively audited all prechemotherapy echocardiograms (ECHO) ordered by medical oncologists at our institution over a 36 months period. The primary objective was to determine the frequency of cardiac abnormality detection on the initial ECHO. We also looked at the frequency of clinically relevant cardiac abnormalities other than ejection fraction abnormalities including diastolic dysfunction, intracardiac shunts, moderate-severe valvular abnormalities, pulmonary hypertension, ventricular hypertrophy, pericardial effusion, wall motional abnormalities, ventricular dysfunction/dilatation, cardiac tumours and congenital anomalies. Baseline ECHOs were analysed in 217 consecutive patients. Female patients comprised 89% of population, and the majority had breast cancer (75.5%). The median age of the patients at the time of ECHO was 55 years (range, 16 to 87); 13.4% of patients had at least one clinically relevant abnormality on ECHO. Systolic and moderate diastolic dysfunctions were seen in 5% and 2.7%, respectively. Aortic stenosis was seen in five (2.3%) patients. Atrial septal defects were seen in two patients, moderate mitral regurgitations in two patients and left atrial tumour in one patient. A total of 7.4% of patients had abnormalities, which would not have been detected by gated blood pool scan (GBPS). The ECHO resulted in change in chemotherapy plan in 2.8% and referral to cardiology in 3.7%. Our retrospective analysis suggests that prechemotherapy ECHO can provide more useful clinical information than the GBPS, which may impact on clinical management of cancer patients.

  7. Health Behaviors and their Relationship with Disease Control in People Attending Genetic Clinics with a Family History of Breast or Colorectal Cancer. (United States)

    Anderson, Annie S; Caswell, Stephen; Macleod, Maureen; Steele, Robert Jc; Berg, Jonathan; Dunlop, Jacqueline; Stead, Martine; Eadie, Douglas; O'Carroll, Ronan E


    The current work aimed to assess health behaviors, perceived risk and control over breast/colorectal cancer risk and views on lifestyle advice amongst attendees at cancer family history clinics. Participants attending the East of Scotland Genetics Service were invited to complete a questionnaire (demographic data, weight and height, health behaviors and psycho-social measures of risk and perceived control) and to participate in an in-depth interview. The questionnaire was completed by 237 (49 %) of attendees, ranging from 18 to 77 years (mean age 46 (±10) years). Reported smoking rates (11 %) were modest, most (54 %) had a BMI > 25 kg/m2, 55 % had low levels of physical activity, 58 % reported inappropriate alcohol intakes and 90 % had fiber intakes indicative of a low plant diet. Regression analysis indicated that belief in health professional control was associated with higher, and belief in fatalism with poorer health behavior. Qualitative findings highlighted doubts about the link between lifestyle and cancer, and few were familiar with the current evidence. Whilst lifestyle advice was considered interesting in general there was little appetite for non-tailored guidance. In conclusion, current health behaviors are incongruent with cancer risk reduction guidance amongst patients who have actively sought advice on disease risk. There are some indications that lifestyle advice would be welcomed but endorsement requires a sensitive and flexible approach, and the acceptability of lifestyle interventions remains to be explored.

  8. Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971. (United States)

    Gamis, Alan S; Alonzo, Todd A; Gerbing, Robert B; Hilden, Joanne M; Sorrell, April D; Sharma, Mukta; Loew, Thomas W; Arceci, Robert J; Barnard, Dorothy; Doyle, John; Massey, Gita; Perentesis, John; Ravindranath, Yaddanapudi; Taub, Jeffrey; Smith, Franklin O


    Transient myeloproliferative disorder (TMD), restricted to newborns with trisomy 21, is a megakaryocytic leukemia that although lethal in some is distinguished by its spontaneous resolution. Later development of acute myeloid leukemia (AML) occurs in some. Prospective enrollment (n = 135) elucidated the natural history in Down syndrome (DS) patients diagnosed with TMD via the use of uniform monitoring and intervention guidelines. Prevalent at diagnosis were leukocytosis, peripheral blast exceeding marrow blast percentage, and hepatomegaly. Among those with life-threatening symptoms, most (n = 29/38; 76%) received intervention therapy until symptoms abated and then were monitored similarly. Organomegaly with cardiopulmonary compromise most frequently led to intervention (43%). Death occurred in 21% but only 10% were attributable to TMD (intervention vs observation patients: 13/14 vs 1/15 because of TMD). Among those solely observed, peripheral blasts and all other TMD symptoms cleared at a median of 36 and 49 days from diagnosis, respectively. On the basis of the diagnostic clinical findings of hepatomegaly with or without life-threatening symptoms, 3 groups were identified with differing survival: low risk with neither finding (38%), intermediate risk with hepatomegaly alone (40%), and high risk with both (21%; overall survival: 92% ± 8%, 77% ± 12%, and 51% ± 19%, respectively; P ≤ .001). Among all, AML subsequently occurred in 16% at a median of 441 days (range, 118-1085 days). The trial is registered at as NCT00003593.

  9. Concomitants of family histories of mood disorders and alcoholism in a clinical cohort of patients with bipolar I and II disorder. (United States)

    Mantere, Outi; Suominen, Kirsi; Valtonen, Hanna M; Arvilommi, Petri; Leppämäki, Sami; Paunio, Tiina; Isometsä, Erkki T


    We diagnosed 191 secondary-care outpatients and inpatients with DSM-IV BD I or II. Sociodemographic and clinical characteristics, including axis I and II comorbidity, neuroticism, and prospective life-chart were evaluated at intake and at 6 and 18 months. The family history (FH) of mood disorders, alcoholism, or any major psychiatric disorders among first-degree relatives was investigated in a semistructured interview. Most (74%) patients had some positive FH; 55% of mood disorder, 36% of alcoholism. Positive FH was associated with psychiatric comorbidity and depressive course in the proband. Based on a multinomial logistic regression model, patients with an FH of mood disorder and alcoholism had an odds ratio of 4.8 (p = 0.001) for having an anxiety disorder. Overall, the first-degree relatives of patients with BD have multiple types of mental disorders, which correlate with bipolar patients' course of illness and psychiatric comorbidity. The strongest associations are between FH of mood disorders and presence of comorbid anxiety disorders.

  10. Impact of family history on the presentation and clinical outcomes of coronary heart disease: data from the Korea Acute Myocardial Infarction Registry. (United States)

    Kim, Choongki; Chang, Hyuk-Jae; Cho, Iksung; Sung, Ji Min; Choi, Donghoon; Jeong, Myung Ho; Jang, Yang Soo


    Family history (FHx) of coronary heart disease (CHD) is a well-known risk factor for CHD. However, the prognostic implication of FHx has not been established clearly in patients with acute myocardial infarction (AMI). In total, 11,612 patients (8,132 males [70%], age 63 ± 13 years) with first-onset AMI between November 2005 and June 2008 in a nationwide, prospective, multicenter, online registry (the Korea AMI Registry) were analyzed. Clinical characteristics and outcomes (cardiac death and major adverse cardiac events [MACEs]) were assessed according to the presence of FHx. The patients with FHx were younger and included more males. Male patients with FHx included more current smokers and individuals with poor lipid profiles. In all patients, after adjustment using the Cox proportional hazard model, FHx was related to the risk of MACEs (hazard ratio [HR], 1.41; p = 0.009) and cardiac death (HR, 1.56; p = 0.080). The poor prognostic implication of FHx was further augmented in females and a low risk subset of patients. A significant interaction was only found between male and female patients for composite MACEs (p for interaction = 0.057), and between patients with more risk factors (≥ 2 risk factors) and fewer risk factors for cardiac deaths (p for interaction = 0.008). FHx may be an independent prognostic predictor, especially in female patients and patients with low-risk profile.

  11. Effects of abnormal excitation on the dynamics of spiral waves (United States)

    Min-Yi, Deng; Xue-Liang, Zhang; Jing-Yu, Dai


    The effect of physiological and pathological abnormal excitation of a myocyte on the spiral waves is investigated based on the cellular automaton model. When the excitability of the medium is high enough, the physiological abnormal excitation causes the spiral wave to meander irregularly and slowly. When the excitability of the medium is low enough, the physiological abnormal excitation leads to a new stable spiral wave. On the other hand, the pathological abnormal excitation destroys the spiral wave and results in the spatiotemporal chaos, which agrees with the clinical conclusion that the early after depolarization is the pro-arrhythmic mechanism of some anti-arrhythmic drugs. The mechanisms underlying these phenomena are analyzed. Project supported by the National Natural Science Foundation of China (Grant Nos. 11365003 and 11165004).

  12. Electrocardiographic abnormalities and cardiac arrhythmias in chronic obstructive pulmonary disease. (United States)

    Goudis, Christos A; Konstantinidis, Athanasios K; Ntalas, Ioannis V; Korantzopoulos, Panagiotis


    Chronic obstructive pulmonary disease (COPD) is independently associated with an increased burden of cardiovascular disease. Besides coronary artery disease (CAD) and congestive heart failure (CHF), specific electrocardiographic (ECG) abnormalities and cardiac arrhythmias seem to have a significant impact on cardiovascular prognosis of COPD patients. Disturbances of heart rhythm include premature atrial contractions (PACs), premature ventricular contractions (PVCs), atrial fibrillation (AF), atrial flutter (AFL), multifocal atrial tachycardia (MAT), and ventricular tachycardia (VT). Of note, the identification of ECG abnormalities and the evaluation of the arrhythmic risk may have significant implications in the management and outcome of patients with COPD. This article provides a concise overview of the available data regarding ECG abnormalities and arrhythmias in these patients, including an elaborated description of the underlying arrhythmogenic mechanisms. The clinical impact and prognostic significance of ECG abnormalities and arrhythmias in COPD as well as the appropriate antiarrhythmic therapy and interventions in this setting are also discussed. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  13. Alopecia in four kittens caused by abnormal maternal licking behaviour. (United States)

    Fanton, N; Michelazzi, M; Cornegliani, L


    Abnormal maternal behaviour has been reported in cats, but is generally not included among the causes of alopecia in kittens. A litter of four kittens, 2 months old, was referred for evaluation of facial alopecia of differing severity. The 2-year-old queen was unaffected. Dermatological examination of the kittens did not find any infectious cause. Trichograms showed broken hair shafts with longitudinal splitting. Congenital alopecia was unlikely based on the clinical presentation. A behavioural consultation revealed abnormal grooming behaviour by the mother, who chewed and removed the hair from the kittens. The kittens were separated from the queen and alopecia resolved within a few weeks. To the authors' knowledge, this is the first report of alopecia caused by abnormal maternal licking behaviour. Abnormal maternal behaviour should be considered in cases of alopecia affecting a litter of kittens, when infectious and congenital causes have been ruled out. © 2015 Australian Veterinary Association.

  14. Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics

    Energy Technology Data Exchange (ETDEWEB)

    Toth-Fejel, S.; Magenis, R.E.; Leff, S. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others


    With improvements in culturing and banding techniques, amniotic fluid studies now achieve a level of resolution at which the Prader-Willi syndrome (PWS) and Angelman syndrome (AS) region may be questioned. Chromosome 15 heteromorphisms, detected with Q- and R-banding and used in conjunction with PWS/AS region-specific probes, can confirm a chromosome deletion and establish origin to predict the clinical outcome. We report four de novo cases of an abnormal-appearing chromosome 15 in amniotic fluid samples referred for advanced maternal age or a history of a previous chromosomally abnormal child. The chromosomes were characterized using G-, Q-, and R-banding, as well as isotopic and fluorescent in situ hybridization of DNA probes specific for the proximal chromosome 15 long arm. In two cases, one chromosome 15 homolog showed a consistent deletion of the ONCOR PWS/AS region A and B. In the other two cases, one of which involved an inversion with one breakpoint in the PWS/AS region, all of the proximal chromosome 15 long arm DNA probes used in the in situ hybridization were present on both homologs. Clinical follow-up was not available on these samples, as in all cases the parents chose to terminate the pregnancies. These cases demonstrate the ability to prenatally diagnose chromosome 15 abnormalities associated with PWS/AS. In addition, they highlight the need for a better understanding of this region for accurate prenatal diagnosis. 41 refs., 5 figs.

  15. Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories. (United States)

    Rosenthal, Eric T; Bernhisel, Ryan; Brown, Krystal; Kidd, John; Manley, Susan


    Genetic testing for inherited cancer risk is now widely used to target individuals for screening and prevention. However, there is limited evidence available to evaluate the clinical utility of various testing strategies, such as single-syndrome, single-cancer, or pan-cancer gene panels. Here we report on the outcomes of testing with a 25-gene pan-cancer panel in a consecutive series of 252,223 individuals between September 2013 and July 2016. The majority of individuals (92.8%) met testing criteria for Hereditary Breast and Ovarian Cancer (HBOC) and/or Lynch syndrome (LS). Overall, 17,340 PVs were identified in 17,000 (6.7%) of the tested individuals. The PV positive rate was 9.8% among individuals with a personal cancer history, compared to 4.7% in unaffected individuals. PVs were most common in BRCA1/2 (42.2%), other breast cancer (BR) genes (32.9%), and the LS genes (13.2%). Half the PVs identified among individuals who met only HBOC testing criteria were in genes other than BRCA1/2. Similarly, half of PVs identified in individuals who met only LS testing criteria were in non-LS genes. These findings suggest that genetic testing with a pan-cancer panel in this cohort provides improved clinical utility over traditional single-gene or single-syndrome testing. Copyright © 2017 Myriad Genetics, Inc. Published by Elsevier Inc. All rights reserved.

  16. Lentiginosis, Deafness and Cardiac Abnormalities*

    African Journals Online (AJOL)


    Jan 6, 1973 ... The familia:l form is milder. The cardiac lesion commonly consists of hypertrophic obstructive cardiomyopathy of either ventricle or abnor- malities of the ECG.' The obstructive lesion may be pro- gressive and cause cardiac failure. The ECG features include conduction abnormalities, such as left hemiblock,.

  17. Chromosomal Abnormalities Associated With Omphalocele

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen


    Full Text Available Fetuses with omphalocele have an increased risk for chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with umbilical cord cysts, complexity of associated anomalies, and the contents of omphalocele. There is considerable evidence that genetics contributes to the etiology of omphalocele. This article provides an overview of chromosomal abnormalities associated with omphalocele and a comprehensive review of associated full aneuploidy such as trisomy 18, trisomy 13, triploidy, trisomy 21, 45,X, 47,XXY, and 47,XXX, partial aneuploidy such as dup(3q, dup(11p, inv(11, dup(1q, del(1q, dup(4q, dup(5p, dup(6q, del(9p, dup(15q, dup(17q, Pallister-Killian syndrome with mosaic tetrasomy 12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3, and uniparental disomy (UPD such as UPD 11 and UPD 14. Omphalocele is a prominent marker for chromosomal abnormalities. Perinatal identification of omphalocele should alert chromosomal abnormalities and familial unbalanced translocations, and prompt thorough cytogenetic investigations and genetic counseling.

  18. Interpreting chromosomal abnormalities using Prolog. (United States)

    Cooper, G; Friedman, J M


    This paper describes an expert system for interpreting the standard notation used to represent human chromosomal abnormalities, namely, the International System for Human Cytogenetic Nomenclature. Written in Prolog, this program is very powerful, easy to maintain, and portable. The system can be used as a front end to any database that employs cytogenetic notation, such as a patient registry.

  19. Admission haematological abnormalities and postoperative ...

    African Journals Online (AJOL)

    Admission haematological abnormalities and postoperative outcomes in neonates with acute surgical conditions in Alexandria, Egypt. HL Wella, SMM Farahat. Abstract. No Abstract. Full Text: EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT · AJOL African Journals ...

  20. Epileptiform electroencephalogram abnormality in children with congenital sensorineural hearing loss. (United States)

    El-Badry, Mohamed Mohamed; Hamdy, Nermin Aly; Sobhy, Sayed; Gamal, Reham


    This work was designed to study electroencephalogram findings in children with congenital sensorineural hearing loss and correlate these findings with the SNHL parameters as duration, etiology, severity, and type. Ninety children with bilateral congenital sensorineural hearing loss served as the study group. They were free from any neurological disorders or symptoms that are commonly associated with abnormal electroencephalogram as convulsions or loss of consciousness. Twenty children having normal hearing with no history of otological or neurological disorders served as the control group. All children participating in the study were subjected to full medical and audiological history, otological examination, neurological examination, audiological evaluation and electroencephalogram recording. Mean age of the children in the control group was 3.56 ± 2.1 years and mean age of the children in the study group was 3.8 ± 2.2 years. While none of the control children had abnormal electroencephalogram, 38 (42.2%) of children with co