An analysis of clinical characteristics in genetically linked migraine-affected pedigrees

Migraine is a common complex disorder characterized by severe recurrent headache and usually accompanied by nausea and vomiting. Previous studies in our laboratory have utilized three large multigenerational Australian pedigrees affected with migraine to indicate that the disease is genetically heterogeneous, with linkage results implicating genomic susceptibility regions on both chromosomes 19p and Xq. The present study explores the possibility of a correlation between genetic and clinical heterogeneity in these affected pedigrees. Specifically, the clinical characteristics of migraine including subtype, age of onset, frequency, duration, and disease symptoms were compared between the migraine pedigrees, and gender differences were also assessed. Our exploratory analyses revealed no significant differences in any of the clinical characteristics tested between the chromosome 19-linked family and the two X-linked families. Also, we did not detect any differences in male vs. female clinical features for these pedigrees. In conclusion, migraine is considered to be a clinically and genetically heterogeneous disorder; however, our study provided no conclusive evidence that variation in genomic susceptibility region is related to heterogeneity at the clinical level in these migraine-affected pedigrees.

Clinical characteristics of acute dysphagia in pediatric patients following traumatic brain injury

Primary Objective: To document the clinical characteristics of acute dysphagia in a group of pediatric patients after traumatic brain injury (TBI). Research Design: Prospective group study. Methods: Fourteen subjects (7 males, 7 females), aged 4 years 1 month to 15 years, with moderate or severe TBI (Glasgow Coma Scale [GCS] < 12). Subjects were assessed via clinical bedside examination documenting cognitive status, oromotor function, feeding function, dietary recommendations, and an indication of overall feeding severity Results: A pattern of impaired cognition, altered behavior related to feeding, severe tonal and postural deficits, oromotor, respiratory, and laryngeal impairments, and oral sensitivity issues was revealed. Conclusions: Swallowing impairment was affected by multilevel deficits, which both individually and in combination had a negative impact on swallowing competence and safety. In light of deficits identified, which could not be observed on videofluoroscopic investigation alone, this study highlighted the importance of the clinical bedside examination in assessing dysphagia in pediatric patients post-TBI for identifying targets for intervention.

Periocular and Orbital Amyloidosis. Clinical Characteristics, Management, and Outcome

Objective: To present the clinical features and management outcome in a large series of patients with periocular and orbital amyloidosis. Design: Retrospective, noncomparative, interventional case series. Patients: All patients diagnosed with periocular and orbital amyloidosis in 6 oculoplastic and orbital units. Methods: Clinical records of all patients were reviewed. Main Outcome Measures: Clinical presentation, radiological and histological findings, treatment modalities, and outcome. Results. The study included 24 patients (15 female, 9 male) with a mean age of 57 17 years. Nineteen cases were unilateral, and 5 were bilateral. Clinical signs and symptoms included a visible or palpable periocular mass or tissue infiltration (95.8%), ptosis (54.2%), periocular discomfort or pain (25%), proptosis or globe displacement (21%), limitations in ocular motility (16.7%), recurrent periocular subcutaneous hemorrhages (12.5%), and diplopia (8.3%). Seven cases had orbital involvement, and 17 were periocular. Immunohistochemistry in 7 patients showed B cells or plasma cells producing monoclonal immunoglobulin chains that were deposited as amyloid light chains. Only 1 patient was diagnosed with systemic amyloid light chain amyloidosis. Treatment modalities were mainly observation and surgical debulking. During a mean follow-up period of 39 months, 21% showed significant progression after treatment, whereas 79% were stable or showed no recurrence after treatment. Conclusion: Periocular and orbital amyloidosis may present with a wide spectrum of clinical findings and result in significant ocular morbidity. Complete surgical excision is not feasible in many cases, and the goal of treatment is to preserve function and to prevent sight-threatening complications.

Outcomes after stroke: Basic and instrumental activities of daily living, community reintegration and generic health status

This study describes the discharge destination, basic and instrumental activities of daily living (ADL), community reintegration and generic health status of people after stroke, and explored whether sociodemographic and clinical characteristics were associated with these outcomes. Participants were 51 people, with an initial stroke, admitted to an acute hospital and discharged to the community. Admission and discharge data were obtained by chart review. Follow-up status was determined by telephone interview using the Modified Barthel Index, the Assessment of Living Skills and Resources, the Reintegration to Normal Living Index, and the Short-Form Health Survey (SF-36). At follow up, 57% of participants were independent in basic ADL, 84% had a low risk of experiencing instrumental ADL difficulties, most had few concerns with community reintegration, and SF-36 physical functioning and vitality scores were lower than normative values. At follow up, poorer discharge basic ADL status was associated with poorer instrumental ADL and community reintegration status, and older participants had poorer instrumental ADL, community reintegration and physical functioning. Occupational therapists need to consider these outcomes when planning inpatient and post-discharge intervention for people after stroke.

Blunted prolactin response to D-fenfluramine in post-stroke major depression

Background: This study investigated whether patients suffering from post-stroke depressive disorder had a similar disturbance in central serotonergic function to that described in non-brain injured depressed patients. Methods: Twenty-three depressed patients (nine major, 14 minor) and 38 non-depressed patients were examined 4-8 weeks post-stroke with a structured interview, rating scales and MRI brain scans. Patients were administered 30 mg D-fenfluramine orally and plasma prolactin and D-fenfluramine concentrations were measured for 6 h post-dose. Results: The prolactin response was significantly blunted in major depression compared to minor depression and non-depressed patients as measured by both delta prolactin and area under the prolactin versus time curve. There was no significant relationship between prolactin response and lesion lateralization or any of the measured clinical characteristics. Limitations: The major limitation of the study is the relatively small number in each depressive group. Conclusions: Patients suffering from major depression in the post-stroke period have a blunted prolactin response to D-fenfluramine. This indicates a serotonergic abnormality consistent with that found in major depression where neurological disease is not present. (C) 2003 Elsevier B.V. All rights reserved.

Caregiver burden, time spent caring and health status in the first 12 months following stroke

Objective: To quantify time caring, burden and health status in carers of stroke patients after discharge from rehabilitation; to identify the potentially modifiable sociodemographic and clinical characteristics associated with these outcomes. Methods: Patients and carers prospectively interviewed 6 (n = 71) and 12 (n = 57) months after discharge. Relationships of carer and patient variables with burden, health status and time analysed by Gaussian and Poisson regression. Results: Carers showed considerable burden at 6 and 12 months. Carers spent 4.6 and 3.6 hours per day assisting patients with daily activities at 6 and 12 months, respectively. Improved patient motor and cognitive function were associated with reductions of up to 20 minutes per day in time spent in daily activities. Better patient mental health and cognitive function were associated with better carer mental health. Conclusions: Potentially modifiable factors such as these may be able to be targeted by caregiver training, support and education programmes and outpatient therapy for patients.

Analysis of stroke patients' and carers' reading ability and the content and design of written materials: Recommendations for improving written stroke information

Objective: This study (a) evaluated the reading ability of patients following stroke and their carers and the reading level and content and design characteristics of the written information provided to them, (b) explored the influence of sociodemographic and clinical characteristics on patients' reading ability, and (c) described an education package that provides well-designed information tailored to patients' and carers' informational needs. Methods: Fifty-seven patients and 12 carers were interviewed about their informational needs in an acute stroke unit. Their reading ability was assessed using the Rapid Estimate of Adult Literacy in Medicine (REALM). The written information provided to them in the acute stroke unit was analysed using the SMOG readability formula and the Suitability Assessment of Materials (SAM). Results: Thirteen (22.8%) patients and 5 (41.7%) carers had received written stroke information. The mean reading level of materials analysed was 11th grade while patients read at a mean of 7-8th grade. Most materials (89%) scored as only adequate in content and design. Patients with combined aphasia read significantly lower (4-6th grade) than other patients (p = 0.001). Conclusion: Only a small proportion of patients and carers received written materials about stroke and the readability level and content and design characteristics of most materials required improvement. Practice implications: When developing and distributing written materials about stroke, health professionals should consider the reading ability and informational needs of the recipients, and the reading level and content and design characteristics of the written materials. A computer system can be used to generate written materials tailored to the informational needs and literacy skills of patients and carers. (c) 2005 Elsevier Ireland Ltd. All rights reserved.

Clinically active Crohn's disease in the presence of a low C-reactive protein

Objective. Clinical interest in C-reactive protein (CRP) - a component of the innate immune system - has focused mainly on its worth as an indicator of disease activity. There has been a resurgence of interest in CRP in the Crohn's disease ( CD) literature because several trials of new treatments for active CD have been characterized by both a large proportion of patients with low CRP ( < 10 mg/l) at entry to the trials and by a negative therapeutic outcome. It is therefore of interest to study the clinical characteristics of patients who are thought to have at the same time both active CD and a low CRP. Material and methods. Patients were prospectively recruited as part of the Brisbane IBD clinical and research programme. Subjects were included in the low CRP group only if there were complete datasets for CRP on all occasions of active CD, and CRP was < 10 mg/l. Active disease was defined as CD activity index (CDAI) > 200. The low CRP group was compared with patients in the raised CRP group for a range of clinical variables as well as the major NOD2 variants. Results. There were data sets for 223 CD patients, with a mean disease duration of 12 years. Of these, 22 patients fulfilled the criteria for low CRP. The low CRP group ( group 1) showed significant differences for disease site (p < 0.01) and for BMI (p = 0.006) compared to the raised CRP group ( group 2). Specifically, group 1 had a predominance of pure ileal disease (95% versus 53%) and lack of pure colonic disease (0% versus 24%) compared to group 2, and their BMI was significantly lower (20.3 kg/m(2) versus 25.0 kg/m(2)). Groups 1 and 2 did not differ with respect to Vienna behaviour at diagnosis, smoking, appendicectomy, extra-intestinal manifestations of CD, or NOD2 SNP variants. There was a trend for low CRP patients with previous ileal resection to evolve to a stricturing phenotype. Fat wrapping was noted in 11/13 (85%) of low CRP patients undergoing ileal resections. Conclusions. Patients with CD and a persistently low CRP in the face of active disease were characterized by an almost exclusive ileal disease distribution and a low BMI, compared to those with a raised CRP. These patients had a similar frequency and distribution of NOD2/CARD15 variants. Stricturing ( v inflammatory or penetrating) behaviour may explain some low CRP. Despite the abnormally low BMI, fat wrapping was noted in the majority of low CRP patients undergoing ileal resection.

Genomewide Linkage Scan of 409 European-ancestry and African American Families with Schizophrenia: Suggestive Evidence of Linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the Combined Sample

We report the clinical characteristics of a schizophrenia sample of 409 pedigrees-263 of European ancestry ( EA) and 146 of African American ancestry ( AA)-together with the results of a genome scan ( with a simple tandem repeat polymorphism interval of 9 cM) and follow-up fine mapping. A family was required to have a proband with schizophrenia ( SZ) and one or more siblings of the proband with SZ or schizoaffective disorder. Linkage analyses included 403 independent full-sibling affected sibling pairs ( ASPs) ( 279 EA and 124 AA) and 100 all-possible half-sibling ASPs ( 15 EA and 85 AA). Nonparametric multipoint linkage analysis of all families detected two regions with suggestive evidence of linkage at 8p23.3-q12 and 11p11.2-q22.3 ( empirical Z likelihood-ratio score [ Z(lr)] threshold >= 2.65) and, in exploratory analyses, two other regions at 4p16.1-p15.32 in AA families and at 5p14.3-q11.2 in EA families. The most significant linkage peak was in chromosome 8p; its signal was mainly driven by the EA families. Z(lr) scores >= 2.0 in 8p were observed from 30.7 cM to 61.7 cM ( Center for Inherited Disease Research map locations). The maximum evidence in the full sample was a multipoint Z(lr) of 3.25 ( equivalent Kong-Cox LOD of 2.30) near D8S1771 ( at 52 cM); there appeared to be two peaks, both telomeric to neuregulin 1 ( NRG1). There is a paracentric inversion common in EA individuals within this region, the effect of which on the linkage evidence remains unknown in this and in other previously analyzed samples. Fine mapping of 8p did not significantly alter the significance or length of the peak. We also performed fine mapping of 4p16.3-p15.2, 5p15.2-q13.3, 10p15.3-p14, 10q25.3-q26.3, and 11p13-q23.3. The highest increase in Z(lr) scores was observed for 5p14.1-q12.1, where the maximum Z(lr) increased from 2.77 initially to 3.80 after fine mapping in the EA families.

Predictive regression equations and clinical uses of peripheral pulse timing characteristics in children

Studies have shown that increased arterial stiffening can be an indication of cardiovascular diseases like hypertension. In clinical practice, this can be detected by measuring the blood pressure (BP) using a sphygmomanometer but it cannot be used for prolonged monitoring. It has been established that pulse wave velocity (PWV) is a direct measure of arterial stiffening but its usefulness is hampered by the absence of non-invasive techniques to estimate it. Pulse transit time (PTT) is a simple and non-invasive method derived from PWV. However, limited knowledge of PTT in children is found in the present literature. The aims of this study are to identify independent variables that confound PTT measure and describe PTT regression equations for healthy children. Therefore, PTT reference values are formulated for future pathological studies. Fifty-five Caucasian children (39 male) aged 8.4 +/- 2.3 yr (range 5-12 yr) were recruited. Predictive equations for PTT were obtained by multiple regressions with age, vascular path length, BP indexes and heart rate. These derived equations were compared in their PWV equivalent against two previously reported equations and significant agreement was obtained (p < 0.05). Findings herein also suggested that PTT can be useful as a continuous surrogate BP monitor in children.

Characterisation of the signalment, clinical and survival characteristics of 41 cats with mast cell neoplasia

Mast cell tumours (MCTs) are relatively common tumours of cats, and are the second most common cutaneous tumours in cats in the USA. While the primary splenic form of the disease is far less common, it is usually associated with more severe clinical signs. Signalment, clinical and survival characteristics of mast cell neoplasia were characterised in 41 cats. The most common tumour location was cutaneous/ subcutaneous head and trunk. Stage la was the most common tumour stage at first diagnosis (n = 20), followed by stage 4 (both stage 4a and stage 4b; n = 10). Of 22 cats that underwent excisional biopsy, mast cell neoplasia recurred in four cats during the study period. Three of the 41 cats presented with simultaneous cutaneous and either splenic or lymph node tumours. A comparison between cats with only cutaneous tumours (n = 30) and those with tumours involving the spleen or lymph nodes (n = 11) showed longer survival times for the cutaneous-only group (P = 0.031). Twelve of the 41 cats died of mast cell neoplasia during the study period. When a subgroup of cats with only cutaneous tumours (no lymph node or visceral involvement) were divided according to whether there were multiple (five or more) tumours (n = 6) or a single tumour (n = 19), cats with single tumours survived longer than those with multiple tumours (P = 0.001). Solitary cutaneous feline MCTs without spread to the lymph nodes usually manifest as benign disease with a relatively protracted course. However, multiple cutaneous tumours, recurrent tumours and primary splenic disease should receive a guarded prognosis due to the relatively short median survival times associated with these forms of the disease. (C) 2006 ESFM and AAFR Published by Elsevier Ltd. All rights reserved.