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Clinical Manifestations (clinical + manifestation)
Kinds of Clinical Manifestations Selected AbstractsAn Earlier Menopause as Clinical Manifestation of Granulosa-Cell Tumor: A Case ReportJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 1 2000Dr. Hisahiko Hiroi Abstract We present a case of a granulosa-cell tumor, which can cause menopause at an earlier than normal age. The hormonal profiles were characterized by undetectable FSH levels associated with an estradiol level compatible with the level seen in perimenopausal women and by a significant increase in the inhibin level. [source] Epilepsy in Border Collies: Clinical Manifestation, Outcome, and Mode of InheritanceJOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 1 2010V. Hülsmeyer Background: There is a lack of data on idiopathic epilepsy (IE) in Border Collies (BCs) in the veterinary literature. Hypothesis: Genetic epilepsy occurs in BCs and is frequently characterized by a severe clinical course and poor response to medical treatment. Animals: Forty-nine BCs diagnosed with IE. Methods: Medical records, seizure data, treatment data, and pedigree information of affected dogs were collected. Cases were classified phenotypically as affected or not affected; mild, moderate, or severe clinical course; active epilepsy (AE) or remission; and drug resistant or not drug resistant. Results: Clinical manifestations were classified as having a moderate (33%) or severe clinical course (49%), characterized by a high prevalence of cluster seizures and status epilepticus. Survival time was significantly decreased in dogs <2 years of age at seizure onset, and in dogs with a severe clinical course. Drug resistance was apparent in 71% of 24 dogs treated with ,2 antiepileptic drugs. The epilepsy remission rate was 18%. Median age at onset was significantly higher and initial seizure frequency was significantly lower in dogs with remission compared with dogs with AE. Pedigree analyses indicated a strong genetic founder effect in the appearance of epilepsy, resembling autosomal recessive inheritance. Conclusion and Clinical Importance: The present study confirms the occurrence of genetically mediated epilepsy with a frequent severe clinical course and drug resistance in BCs. The results provide information about the long-term prognosis of IE in BCs for veterinarians and concerned owners, and may benefit breeders as well. [source] Stroke Part II: Clinical Manifestations and Pathogenesis , Handbook of Clinical Neurology, vol.EUROPEAN JOURNAL OF NEUROLOGY, Issue 3 200993 (3rd Series) No abstract is available for this article. [source] Clinical Manifestations of Superior Semicircular Canal Dehiscence,THE LARYNGOSCOPE, Issue 10 2005Lloyd B. Minor MD Abstract Objectives/Hypotheses: To determine the symptoms, signs, and findings on diagnostic tests in patients with clinical manifestations of superior canal dehiscence. To investigate hypotheses about the effects of superior canal dehiscence. To analyze the outcomes in patients who underwent surgical repair of the dehiscence. Study Design: Review and analysis of clinical data obtained as a part of the diagnosis and treatment of patients with superior canal dehiscence at a tertiary care referral center. Methods: Clinical manifestations of superior semicircular canal dehiscence were studied in patients identified with this abnormality over the time period of May 1995 to July 2004. Criteria for inclusion in this series were identification of the dehiscence of bone overlying the superior canal confirmed with a high-resolution temporal bone computed tomography and the presence of at least one sign on physiologic testing indicative of superior canal dehiscence. There were 65 patients who qualified for inclusion in this study on the basis of these criteria. Vestibular manifestations were present in 60 and exclusively auditory manifestations without vestibular symptoms or signs were noted in 5 patients. Results: For the 60 patients with vestibular manifestations, symptoms induced by loud sounds were noted in 54 patients and pressure-induced symptoms (coughing, sneezing, straining) were present in 44. An air-bone on audiometry in these patients with vestibular manifestations measured (mean ± SD) 19 ± 14 dB at 250 Hz; 15 ± 11 dB at 500 Hz; 11 ± 9 dB at 1,000 Hz; and 4 ± 6 dB at 2,000 Hz. An air-bone gap 10 dB or greater was present in 70% of ears with superior canal dehiscence tested at 250 Hz, 68% at 500 Hz, 64% at 1,000 Hz, and 21% at 2,000 Hz. Similar audiometric findings were noted in the five patients with exclusively auditory manifestations of dehiscence. The threshold for eliciting vestibular-evoked myogenic potentials from affected ears was (mean ± SD) 81 ± 9 dB normal hearing level. The threshold for unaffected ears was 99 ± 7 dB, and the threshold for control ears was 98 ± 4 dB. The thresholds in the affected ear were significantly different from both the unaffected ear and normal control thresholds (P < .001 for both comparisons). There was no difference between thresholds in the unaffected ear and normal control (P = .2). There were 20 patients who were debilitated by their symptoms and underwent surgical repair of superior canal dehiscence through a middle cranial fossa approach. Canal plugging was performed in 9 and resurfacing of the canal without plugging of the lumen in 11 patients. Complete resolution of vestibular symptoms and signs was achieved in 8 of the 9 patients after canal plugging and in 7 of the 11 patients after resurfacing. Conclusions: Superior canal dehiscence causes vestibular and auditory symptoms and signs as a consequence of the third mobile window in the inner ear created by the dehiscence. Surgical repair of the dehiscence can achieve control of the symptoms and signs. Canal plugging achieves long-term control more often than does resurfacing. [source] Prolactin and macroprolactin in patients with systemic lupus erythematosusINTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, Issue 3 2008Mohammadhassan JOKAR Abstract Aim: The aim of this study was to evaluate plasma levels of prolactin and macroprolactin in a group of systemic lupus erythematosus (SLE) patients and to determine if prolactin and macroprolactin concentrations were related to disease activity, clinical features or serological abnormalities. Methods: Ninety consecutive Iranian patients with SLE were tested for serum prolactin and macroprolactin levels. Total prolactin was measured directly in serum samples by radioimmunoassay. Free prolactin was extracted from the serum using polyethylene glycol. Clinical manifestation and SLE disease activity index (SLEDAI) were recorded. Auto antibodies were determined by standard techniques. Results: There were 90 patients (7 male, 83 female) with a mean age of 27.6 ± 9.1 (range 14,52). The mean disease duration was 27.6 ± 9.1 months. The frequency of high prolactin and macroprolactin, respectively, was 10% (9/90) and 5.6% (5/90) in patients with SLE. Macroprolactinemia was found in 55.55% (5/9) of hyperprolactinemic patients. Lupus activity was present in 63.3% (57/90) of patients without a significant difference in the frequency of high serum prolactin and macroprolactin levels when compared to inactive lupus. There were no statistically significant differences regarding demographic, clinical and laboratory characteristics between the group of patients with macroprolactinemia and the group without macroprolactinemia. Conclusion: Our results suggest that a subgroup of SLE patients have hyperprolactinemia and macroprolactinemia but they do not seem to have positive or negative correlation to clinical and laboratory features and disease activity. [source] Clinical manifestation of focal cerebellar disease as related to the organization of neural pathwaysACTA NEUROLOGICA SCANDINAVICA, Issue 2008E. Dietrichs Neural pathways connect different parts of the cerebellum to different parts of the central nervous system. The cerebellum may be divided anatomically and functionally into three major regions. The cerebellar hemispheres and a small part of the posterior lobe vermis form the pontocerebellum, which receives inputs from the cerebral cortex via the pontine nuclei. The anterior lobe and most of the posterior lobe vermis make up the spinocerebellum, which receives afferents from the spinal cord. The nodulus and flocculus are connected with the vestibular nuclei and constitute the vestibulocerebellum. Most cases of cerebellar disease affect more than one region and different pathways. Hence, they cause generalized cerebellar symptoms dominated by impaired motor control and balance. Focal syndromes after restricted cerebellar lesions are rare. Isolated spinocerebellar affection may give gait ataxia. Vestibulocerebellar disease causes equilibrium disturbances with truncal ataxia and nystagmus. Pontocerebellar lesions typically give ipsilateral limb ataxia, but also dysartria and oculomotor dysfunction if vermal parts are involved. The clinical picture is in most cases of cerebellar disease dominated by motor disturbances, but the cerebellum also participates in the modulation of autonomic and affective responses and in cognitive functions. The cerebrocerebellar and hypothalamocerebellar circuits may be important for these tasks. [source] Systemic autoimmune disease induced by dendritic cells that have captured necrotic but not apoptotic cells in susceptible mouse strainsEUROPEAN JOURNAL OF IMMUNOLOGY, Issue 11 2005Liang Ma Abstract Systemic lupus erythematosus (SLE) is an autoimmune disorder of a largely unknown etiology. Anti-double-stranded (ds) DNA antibodies are a classic hallmark of the disease, although the mechanism underlying their induction remains unclear. We demonstrate here that, in both lupus-prone and normal mouse strains, strong anti-dsDNA antibody responses can be induced by dendritic cells (DC) that have ingested syngeneic necrotic (DC/nec), but not apoptotic (DC/apo), cells. Clinical manifestations of lupus were evident, however, only in susceptible mouse strains, which correlate with the ability of DC/nec to release IFN-, and to induce the pathogenic IgG2a anti-dsDNA antibodies. Injection of DC/nec not only accelerated disease progression in the MRL/MpJ- lpr/lpr lupus-prone mice but also induced a lupus-like disease in the MRL/MpJ-+/+ wild-type control strain. Immune complex deposition was readily detectable in the kidneys, and the mice developed proteinuria. Strikingly, female MRL/MpJ-+/+ mice that had received DC/nec, but not DC/apo, developed a ,butterfly' facial lesion resembling a cardinal feature of human SLE. Our study therefore demonstrates that DC/nec inducing a Th1 type of responses, which are otherwise tightly regulated in a normal immune system, may play a pivotal role in SLE pathogenesis. [source] Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatmentHAEMOPHILIA, Issue 6 2008S. L. MEEKS Summary., Prothrombin (factor II) deficiency is a rare autosomal recessive coagulation disorder that occurs in approximately 1 in 1,2 million people. Prothrombin is activated to thrombin, which in turn proteolytically cleaves fibrinogen to fibrin and contributes to forming a stable fibrin clot. The haemostatic level of prothrombin is thought to be between 20 and 40%, and the half-life is approximately 3 days. There are more than 40 known mutations in prothrombin. Both hypoprothrombinemia and dysprothrombinemia have been described. Low prothrombin activity typically prolongs both the activated partial thromboplastin time and prothrombin time. Clinical manifestations are predominantly mucosal or surgical- or trauma-associated bleeding, but joint bleeding and intracranial haemorrhages have been reported. No purified prothrombin products are available for replacement therapy. Both fresh frozen plasma and prothrombin complex concentrates contain prothrombin and may be used for treatment. [source] Encapsulating peritoneal sclerosis: Importance to the hemodialysis practitionerHEMODIALYSIS INTERNATIONAL, Issue 4 2009Jeffrey PERL Abstract Encapsulating peritoneal sclerosis (EPS) is a rare but devastating complication of long-term peritoneal dialysis (PD) therapy. Encapsulating peritoneal sclerosis is characterized by peritoneal membrane inflammation, followed by progressive peritoneal membrane fibrosis and intestinal encapsulation. Clinical manifestations include ascites as well as intermittent and recurrent small bowel obstruction. The prognosis of EPS is poor. The exact cause of EPS remains unknown. While the risk factors for EPS are not well elucidated, EPS is seen with increased frequency after an increased duration of PD therapy. In more than half the patients who develop EPS, the diagnosis is made after transfer to hemodialysis (HD). It is important for the HD practitioner to initiate surveillance in any patient at risk for EPS while maintaining a heightened index of suspicion for EPS in an HD patient with gastrointestinal symptoms and a history of previous PD therapy. Early diagnosis and prompt initiation of treatment is essential. Early in the course of EPS, immunosuppressive therapy remains the mainstay of treatment. Ultimately, parenteral nutritional support may be required along with surgical therapy to relieve intestinal obstruction. We report a case of EPS in an HD patient at our center highlighting the incidence, risk factors, and treatment strategies in the context of available evidence. [source] Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) geneINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 2 2009Luz Gonzalez-Huerta MD A 70-year-old male presented with very large, thick, tightly adherent, dark-brown scales on the front of his lower extremities. His face, neck, back, abdomen, upper extremities, flexural areas, palms and soles as well as hair and nails were not involved. Family history was negative for similar lesions. Otherwise, the patient had a normal development. Onset of symptoms occurred during childhood with scales on lower extremities with no more additional features. Treatment included emollients exclusively with partial and temporary remission of cutaneous lesions. Recently, the patient had not received topical or systemic medical treatment. Laboratory investigations were within normal limits. The patient had undetectable levels of STS activity when compared with normal control (0.00 pmol mg -1 protein h -1) which confirmed the diagnosis of X-linked ichthyosis (XLI) . PCR analysis showed deletion of the STS gene, markers DXS1139 and DXF22S1and the 5, end of the VCX3A gene. The patient had scales present on lower extremities only with no medical treatment that corresponded to an unusual clinical manifestation of XLI. Clinical manifestations of XLI are due to a great variety of environmental, genetic and individual factors that should be considered in XLI diagnosis. [source] A Japanese case of Kindler syndromeINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 4 2000Yasushi Suga MD A 25-year-old Japanese woman presented with contracture of the fingers and toes, and difficulty in opening her mouth. Her grandparents are first cousins, but none of the other members of the family are affected. Bulla formation started at birth on areas of the skin that received pressure, and in infancy and early childhood the lesions were limited only to the acral areas. She also had bilateral, incomplete syndactylies involving all web spaces ( Fig. 1a). The formation of blisters ceased after the age of 15 years, but a generalized progressive poikiloderma then appeared with accompanying cutaneous atrophy of the skin of the neck, trunk, and extremities ( Fig. 1b). The patient experienced mild photosensitivity of the face and neck. At age 18 years, surgical removal of the webbing of all her fingers was performed. Oral examination showed atrophy of the buccal mucosa, and an inability to fully open the mouth. The patient also suffered from poor dentition and easily bleeding gums, but had no symptoms of esophageal dysfunction. Figure 1. Clinical manifestations of the patient with Kindler syndrome. (a) Dorsal surface of the patient's hands. Note the marked cutaneous atrophy with a severely wrinkled appearance on the dorsal surface of the hands, as well as the proximal fusion of the fingers. (b) Lower left leg of the patient. Atrophic thinning of the skin and poikiloderma with reticular pigmentation are evident Histology of separate biopsy specimens, taken from the poikilodermatous pretibial and trunk skin, showed classical features of poikiloderma, namely epidermal atrophy with flattening of the rete ridges, vacuolization of basal keratinocytes, pigmentary incontinence, and mild dermal perivascularization ( Fig. 2a). Interestingly, dyskeratotic cells ( Fig. 2b) and eosinophilic rounded bodies (colloid bodies) ( Fig. 2c) were frequently found at the basal keratinocyte layer and in the upper dermis, respectively. Pigment was also present in the upper epidermis. Figure 2. Hematoxylin and eosin staining of a biopsy specimen taken from pretibial skin. (a) Epidermal atrophy with flattening of the rete ridges. Note the dyskeratotic cells (arrowheads) and vacuolar degeneration of the basal layer in the epidermis. Bar = 50 ,m. (b) Higher magnification of dyskeratotic cells (arrowheads). Bar = 10 ,m. (c) Higher magnification of colloid bodies (arrowheads) in the superficial dermis. Bar = 10 ,m To rule out the possibility of a congenital epidermolysis bullosa, ultrastructural and immunofluorescence studies were performed. Ultrastructural studies demonstrated the reduplication of the basal lamina with branching structures within the upper dermis and cleavage between the lamina densa and the cell membrane of the keratinocytes ( Fig. 3a). The numbers of associated anchoring fibrils did not seem to be reduced, and colloid bodies and dyskeratotic cells were detected. Immunofluorescence studies with the antibody against type VII collagen (LH 7 : 2) were subsequently carried out. The results showed extensive broad bands with intermittently discontinuous and reticular staining at the dermo-epidermal junction (DEJ) ( Fig. 3b), whereas a linear distribution is typically seen in healthy tissue (data not shown). Interestingly, direct immunofluorescence studies revealed intracellular accumulation of immunoglobulin G (IgG), IgM, IgA, and C3 in colloid bodies under the basement membrane ( Fig. 3c). Figure 3. Ultrastructural and immunohistochemical findings of the patient with Kindler syndrome. (a) Ultrastructural study of the dermo-epidermal junction. The branching structures of the lamina densa (arrowheads) were frequently seen. The asterisks show the cleavage in the lamina lucida. Bar = 1 ,m. (b) Immunohistochemical studies with the antibody to type VII collagen (LH 7 : 2). An extensive broad band with reticular patterns is evident. Bar = 50 ,m. E, epidermis; D, dermis. (c) Direct immunofluorescence study. Intracytoplasmic deposition of IgM in the basal keratinocytes is evident (arrowheads). Bar = 50 ,m. E, epidermis; D, dermis [source] How to deal with Behcet's disease in daily practiceINTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, Issue 2 2010Fereydoun DAVATCHI Abstract Introduction:, Behcet's Disease (BD) is classified as a vasculitis, and progresses via attacks and remissions. BD is mainly seen around the Silk Road. The picture varies in different reports. For clinical descriptions, the data from the international cohort of patients (27 countries), will be used. Clinical manifestations:, Mucous membrane manifestations were oral aphthosis seen in 98.1%, and genital aphthosis in 76.9% of patients. Skin manifestations were seen in 71.9% (pseudofolliculitis in 53.6% and erythema nodosum in 33.6%). Ocular manifestations were seen in 53.7% (anterior uveitis 38.8%, posterior uveitis 36.9%, retinal vasculitis 23.5%). Joint manifestations were seen in 50.5% (arthralgia, monoarthritis, oligo/polyarthritis, ankylosing spondylitis). Neurological manifestations were seen in 15.5% of patients (central 11.5%, peripheral 4.4%). Gastrointestinal manifestations were seen in 6.3% of patients. Vascular involvement was seen in 18.2% of patients and arterial involvement in 3% (thrombosis, aneurysm, pulse weakness). Deep vein thrombosis was seen in 8%, large vein thrombosis in 6.5%, and superficial phlebitis in 5.8%. Orchitis and epididymitis were seen in 7.2%. Pathergy test was positive in 49.3% and HLA-B51 in 49.1% of patients. Diagnosis:, Diagnosis is based on clinical manifestations. The International Criteria for Behcet's Disease (ICBD) may be helpful. Treatment:, The first line treatment is colchicine (1 mg daily) for mucocutaneous manifestations, non-steroidal anti-inflammatory drugs for joint manifestations, anticoagulation for vascular thrombosis, and cytotoxic drugs for ocular and brain manifestations. If incomplete response or resistance occurs, therapeutic escalation is worthwhile. Conclusion:, Behcet's disease is a systemic disease characterized by mucocutaneous, ocular, vascular and neurologic manifestations, progressing by attacks and remissions. [source] Clinical manifestations of chondromalacia patella in 260 Iranian patientsINTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, Issue 2 2005I. SALEHI Abstract Background and aim:, Chondromalacia patella, which is characterized by softening of the patellar cartilage, is the most common cause of anterior knee pain in young women. The aim of this study was to identify the clinical features of patients with chondromalacia patella in Iran. Methods:, All patients under 40 years, complaining of mechanical knee pain who were referred to Amir A'lam Rheumatology Unit, with positive shrug sign and normal knee X-rays during the period September 2000 to September 2002, were included in this study. After physical examination and knee radiography, patients with knee arthritis, knee osteoarthritis and knee periarthritis were excluded. Patients with the clinical diagnosis of chondromalacia patella were studied. The demographic data, clinical disease characteristics and disease course were recorded. Results:, There were 260 patients. They were predominantly female (F : M, 2.6 : 1), in the third decade of life and a mean age of 22.8 years at the onset of disease. Bilateral involvement was found in 92% of patients. The first manifestation was knee pain. The history of trauma or swelling of the knee occurred in about 20% of cases. The history of dislocation was 3%. Sitting with flexed knees, stairs, and the use of Turkish WCs aggravated the knee pain. About one-third had knee malalignment, mostly mild genu varus. Patella alta was seen in 1.6%. Q-angle more than 15° was seen in 90.8%. Mean Q-angle was 21.9°, mean patellar angle was 122.6°, and mean intercondylar angle was 141.5°. All patients had the shrug sign. About 90% had Rabot test and crepitation, 3.5% had knee effusion, and 1% had knee laxity. Lower limb discrepancy was seen in 6.2% and spinal deformity in 10%. Ninety-three percent of the patients were treated by conservative (medical) therapy. Conclusion:, So the classic case of chondromalacia patella is a woman in her third decade of life with mechanical knee pain and positive shrug test. [source] Fabry Disease: Treatment and diagnosisIUBMB LIFE, Issue 11 2009Paula A. Rozenfeld Abstract Fabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme ,-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever. The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear. Most of the heterozygous females are symptomatic. Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease. The beneficial effect of ERT on different organs/systems has been extensively evaluated. Quality of life of patients receiving ERT is improved. Enzyme replacement stabilizes or slows the decline in renal function and reduces left ventricular hypertrophy. Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms. Different screening strategies have been carried out in different at-risk populations in order to detect undiagnosed Fabry patients. An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy. © 2009 IUBMB IUBMB Life, 61(11): 1043,1050, 2009 [source] Preonset Studies of Spondyloepiphyseal Dysplasia Tarda Caused by a Novel 2-Base Pair Deletion in SEDL Encoding Sedlin,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 12 2001Steven Mumm Abstract Spondyloepiphyseal dysplasia tarda (SEDT), an X-linked recessive skeletal disorder, presents with disproportionate short stature and "barrel-chest" deformity in affected (hemizygous) adolescent boys. In four reported families to date, mutations in a gene designated SEDL (spondyloepiphyseal dysplasia late) cosegregate with SEDT. We diagnosed SEDT in a short-stature, kyphotic 15-year-old boy because of his characteristic vertebral malformations. Clinical manifestations of SEDT were evident in at least four previous generations. A novel 2-base pair (bp) deletion in exon 5 of SEDL was found in the propositus by polymerase chain reaction (PCR) amplification and sequencing of all four coding exons. The mutation ATdel241-242 cosegregated with the kindred's skeletal disease. The deletion is adjacent to a noncanonical splice site for exon 5 but does not alter splicing. Instead, it deletes 2 bp from the coding sequence, causing a frameshift. A maternal aunt and her three young sons were investigated subsequently. Radiographs showed subtle shaping abnormalities of her pelvis and knees, suggesting heterozygosity. X-rays of the spine and pelvis of her 8-year-old son revealed characteristic changes of SEDT, but her younger sons (aged 6 years and 3 years) showed no abnormalities. SEDL analysis confirmed that she and only her eldest boy had the 2-bp deletion. Molecular testing of SEDL enables carrier detection and definitive diagnosis before clinical or radiographic expression of SEDT. Although there is no specific treatment for SEDT, preexpression molecular testing of SEDL could be helpful if avoiding physical activities potentially injurious to the spine and the joints proves beneficial. [source] Clinical manifestations and survival of hepatocellular carcinoma patients with peritoneal metastasisJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 5 2009Chien-Chu Lin Abstract Background and Aim:, Peritoneal metastasis is an uncommon manifestation of hepatocellular carcinoma (HCC). The aim of the present paper was to investigate the characteristics and survival of HCC patients with peritoneal metastases. Methods:, From January 1985 to December 2004, we retrospectively reviewed the records of 53 Taiwanese HCC patients with peritoneal metastases. Results:, Peritoneal metastases were detected at the time of HCC diagnosis (synchronously) in 10 patients and after the initial therapy for the primary tumors (metachronously) in 43 patients. The mean time for development of the metachronous peritoneal metastases was similar whether the primary cancer was treated with surgery (24 months) or transarterial chemoembolization (22.2 months). The single patient whose primary cancer was treated with supportive care alone developed peritoneal metastasis only 7.5 months after detection of the primary cancer. Surgical resection of the peritoneal metastases was possible in two-thirds of the 43 metachronous patients. The median survival for those who received surgery for these metastases was 12.5 months vs. 2.1 months for those without surgery (P = 0.0013). However, there was no difference in survival if patients were stratified to Child-Pugh grade. Conclusions:, Peritoneal metastases of HCC are rare and can occur synchronously or metachronously. Though increased long-term survival was found in patients who had surgical removal of peritoneal metastases, the main determinant of better survival is Child-Pugh grade. [source] Dissimilar aggregation processes govern precipitation and gelation of human IgM cryoglobulinsJOURNAL OF MOLECULAR RECOGNITION, Issue 2 2007Vicky Vallas Abstract Cryoglobulinemia is associated with a range of diseases including rheumatoid arthritis, B-cell malignancies, and chronic viral infections. This "cold-sensitivity" condition is caused by cryoglobulins that precipitate, gel, or occasionally crystallize in the cold. Clinical manifestations vary widely in severity, depending on many factors, including the type of cryoglobulin (monoclonal or mixed immunoglobulins) and the physical nature of the aggregates (precipitate, gel, or crystal). Dynamic light scattering (DLS) was used to examine the cold-induced precipitation or gelation of two human cryoglobulins, namely, Pot IgM and Yvo IgM. The DLS assay was highly reproducible, sensitive, and had low intra-assay variations for both IgM cryoglobulins. Distinct processes were revealed to contribute to precipitation and gelation of cryoglobulins. The precipitation of Pot IgM displayed a rapid transition from solution to solid phases, with a wide distribution of aggregate sizes. In contrast, the gelation of Yvo IgM progressed gradually across a broad temperature range to produce a relatively uniform gel matrix. Initial cryoglobulin concentrations determined the kinetics and critical temperatures for both precipitation and gelation. Moreover, the Yvo IgM was observed to have a distinct relationship between concentrations and mean hydrodynamic diameters or particle sizes. Concentration-dependent effects on particle sizes were present, but not as pronounced for the Pot IgM. Precipitation and gelation of cryoglobulins were also found to be differentially responsive to changes in the aqueous environment. Our results indicate that DLS is a rapid, reliable, and sensitive method for characterizing the nature of disease-associated cryoglobulins. Copyright © 2007 John Wiley & Sons, Ltd. [source] Ethanol Alters the Osteogenic Differentiation of Amniotic Fluid-Derived Stem CellsALCOHOLISM, Issue 10 2010Jennifer A. Hipp Background:, Fetal alcohol spectrum disorder (FASD) is a set of developmental defects caused by prenatal alcohol exposure. Clinical manifestations of FASD are highly variable and include mental retardation and developmental defects of the heart, kidney, muscle, skeleton, and craniofacial structures. Specific effects of ethanol on fetal cells include induction of apoptosis as well as inhibition of proliferation, differentiation, and migration. This complex set of responses suggests that a bioinformatics approach could clarify some of the pathways involved in these responses. Methods:, In this study, the responses of fetal stem cells derived from the amniotic fluid (AFSCs) to treatment with ethanol have been examined. Large-scale transcriptome analysis of ethanol-treated AFSCs indicates that genes involved in skeletal development and ossification are up-regulated in these cells. Therefore, the effect of ethanol on osteogenic differentiation of AFSCs was studied. Results:, Exposure to ethanol during the first 48 hours of an osteogenic differentiation protocol increased in vitro calcium deposition by AFSCs and increased alkaline phosphatase activity. In contrast, ethanol treatment later in the differentiation protocol (day 8) had no significant effect on the activity of alkaline phosphatase. Conclusions:, These results suggest that transient exposure of AFSCs to ethanol during early differentiation enhances osteogenic differentiation of the cells. [source] The inflammatory response in drug-induced acute urticaria: ultrastructural study of the dermal microvascular unitJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 9 2006PR Criado Abstract Background, Drug exposure is one of the main aetiologies of urticaria and represents the second most common cause in acute urticarias. Studies involving the ultrastructural aspects of urticaria are relatively rare in the literature. Most of the articles published report on skin biopsies of experimentally induced urticaria, and acute urticaria has been studied even less from a morphological point of view. Objectives, The aims of this study were to observe ultrastructural cell characteristics in five patients with drug-induced acute urticaria and possible aspects of the inflammatory skin response. Methods, Clinical manifestations, light microscopy and transmission electron microscopy were evaluated. Results, With light microscopy, a mild perivascular lymphocyte-monocyte infiltrate was observed with few neutrophils and dermal oedema in skin biopsies of five patients. With electron microscopy, a mild vascular dilatation was observed, with platelets in the lumen and several lymphocytes and dendritic cells close to the superficial dermal vessels. Some mast cells appeared normal, whereas others were granule-depleted. In some areas, mast cells, lymphocytes and satellite dendritic cells were closely associated, as well as some macrophages. A significant number of plasma cells, eosinophils and polymorphonuclear neutrophils were not observed; however, the presence of lymphocytes and macrophages was significant. The epidermis and the dermal-epidermal junction were preserved, except for a discrete oedema in keratinocytes. Conclusions, The ultrastructural aspect of drug-induced acute urticaria is similar to that observed in urticaria caused by Urtica dioica, intradermal histamine and cold urticaria. The presence of the cellular triad with mast cells, dendritic (or satellite) cells and lymphocytes suggests a functional interaction of these cells. These findings support the possible existence of mechanisms in the dermis that may participate in protective and/or injurious vasocentric immune reactions. [source] Epilepsy in Border Collies: Clinical Manifestation, Outcome, and Mode of InheritanceJOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 1 2010V. Hülsmeyer Background: There is a lack of data on idiopathic epilepsy (IE) in Border Collies (BCs) in the veterinary literature. Hypothesis: Genetic epilepsy occurs in BCs and is frequently characterized by a severe clinical course and poor response to medical treatment. Animals: Forty-nine BCs diagnosed with IE. Methods: Medical records, seizure data, treatment data, and pedigree information of affected dogs were collected. Cases were classified phenotypically as affected or not affected; mild, moderate, or severe clinical course; active epilepsy (AE) or remission; and drug resistant or not drug resistant. Results: Clinical manifestations were classified as having a moderate (33%) or severe clinical course (49%), characterized by a high prevalence of cluster seizures and status epilepticus. Survival time was significantly decreased in dogs <2 years of age at seizure onset, and in dogs with a severe clinical course. Drug resistance was apparent in 71% of 24 dogs treated with ,2 antiepileptic drugs. The epilepsy remission rate was 18%. Median age at onset was significantly higher and initial seizure frequency was significantly lower in dogs with remission compared with dogs with AE. Pedigree analyses indicated a strong genetic founder effect in the appearance of epilepsy, resembling autosomal recessive inheritance. Conclusion and Clinical Importance: The present study confirms the occurrence of genetically mediated epilepsy with a frequent severe clinical course and drug resistance in BCs. The results provide information about the long-term prognosis of IE in BCs for veterinarians and concerned owners, and may benefit breeders as well. [source] Liver cirrhosis in HIV-infected patients: prevalence, aetiology and clinical outcomeJOURNAL OF VIRAL HEPATITIS, Issue 3 2008C. Castellares Summary., Liver disease is frequently seen in HIV+ patients as a result of coinfection with hepatitis B (HBV) or C (HCV) viruses, alcohol abuse and/or exposure to hepatotoxic drugs. The aim of this study was to assess the prevalence of liver cirrhosis, its main causes and clinical presentation in HIV+ patients. Observational, cross-sectional, retrospective study of all HIV+ individuals followed at one reference HIV outpatient clinic in Madrid. Liver fibrosis was measured in all cases using transient elastometry (FibroScan®). All 2168 HIV+ patients on regular follow-up (76% males, 46% injecting drug users) were successfully examined by FibroScan® between October 2004 and August 2006. Liver cirrhosis was recognized in 181 (overall prevalence, 8.3%), and the main aetiologies were HCV, 82.3%; HBV, 1.6%; dual HBV/HCV, 2.8%; and triple HBV/HCV/ hepatitis delta virus (HDV) infection, 6.6%. The prevalence of cirrhosis differed among patients with distinct chronic viral hepatitis: HCV, 19.2%; HBV, 6.1%; HBV/HCV, 41.7%; and HBV/HCV/HDV, 66.7%. In 12 patients with cirrhosis (6.7%), no definite aetiology was recognized. Overall, cirrhotics had lower mean CD4 counts than noncirrhotics (408 vs 528 cells/,L respectively; P = 0.02), despite similar proportion of subjects with undetectable viraemia on highly active antiretroviral therapy. Clinical manifestations of liver cirrhosis were: splenomegaly, 61.5%; oesophageal varices, 59.8%; ascites, 22.6%; encephalopathy, 12.1%; and variceal bleeding, 6.1%. Liver cirrhosis and hepatic decompensation events are relatively frequent in HIV+ individuals. Chronic HCV and alcohol abuse, but not chronic HBV, play a major role. Transient elastometry may allow the identification of a significant number of HIV+ individuals with asymptomatic liver cirrhosis. [source] Autochthonous hepatitis E in southwest EnglandJOURNAL OF VIRAL HEPATITIS, Issue 5 2007H. R. Dalton Summary., Although autochthonous hepatitis E has been reported in developed countries, its extent and nature in the United Kingdom are unclear. The aim of the present study was to report the natural history, lifestyle risk factors and molecular epidemiology of autochthonous hepatitis E infection in southwest England. Three hundred and thirty-three patients with unexplained hepatitis were tested for markers of hepatitis E virus (HEV) infection over a 7-year period. HEV RNA isolated from the cases was amplified and characterized. Of the 333 patients, 21 had autochthonous hepatitis E. Patients were middle-aged or elderly and males were more commonly affected. Clinical manifestations ranged from asymptomatic infection to severe hepatitis. Of the 21 patients, 20 recovered within 6 weeks. None of the cases had travelled to an area endemic for HEV. None of the patients were vegetarian and all ate pork. Of the 21 cases, 20 occurred in the spring, summer and autumn months. All polymerase-chain-reaction-confirmed cases carried HEV genotype 3, which bore close sequence homology to HEV circulating in UK pigs. In the United Kingdom, autochthonous hepatitis E may be more common than previously recognized. Although the mode of transmission remains to be determined, it may be a zoonosis with pigs as a reservoir. Hepatitis E should be considered a public health issue in the United Kingdom. [source] Study of portal vein thrombosis in patients with idiopathic portal hypertension in JapanLIVER INTERNATIONAL, Issue 5 2005Shoichi Matsutani Abstract: Background/Aims: The aim of this study was to elucidate the incidence and clinical manifestations of portal vein thrombosis (PVT) in patients with idiopathic portal hypertension (IPH) in Japan during long-term follow-up. Patients and Methods: Twenty-two patients with IPH were examined for PVT by sonography during a follow-up of 12±6 years. Clinical manifestations and patient outcome related to PVT were studied. Seventy patients with liver cirrhosis were examined by sonography as an incidence control of thrombosis. Results: Nine IPH patients had portal thrombosis (9/22, 41%), a higher incidence than in liver cirrhosis patients (7/70, 10%). Those with thrombosis showed ascites, marked hypersplenism, and low serum albumin. Four patients with thrombosis died. Patients without thrombosis showed less clinical problems after long-term follow-up. Plasma antithrombin III and protein C activity decreased in almost half of the patients. However, there were no differences in these parameters between patients with and without thrombosis. Conclusions: In Japan, IPH patients had a high incidence of portal thrombosis, a significant factor for poor prognosis. Whether the management of PVT contributes to an improvement of a clinical course of IPH or not should be clarified in further study. [source] Motor fluctuations and dyskinesias in Parkinson's disease: Clinical manifestationsMOVEMENT DISORDERS, Issue S11 2005Joseph Jankovic MD Abstract Fluctuations in the symptoms of Parkinson's disease (PD), such as wearing-off and on,off effects, and dyskinesias are related to a variety of factors, including duration and dosage of levodopa, age at onset, stress, sleep, food intake, and other pharmacokinetic and pharmacodynamic mechanisms. The majority of patients, particularly those with young onset of PD, experience these levodopa-related adverse effects after a few years of treatment. Assessment of these motor complications is difficult because of the marked clinical variability between and within patients. Daily diaries have been used in clinical trials designed to assess the effects of various pharmacological and surgical interventions on motor fluctuations and dyskinesias. The most common type of dyskinesia, called "peak-dose dyskinesia", usually consists of stereotypical choreic or ballistic movements involving the head, trunk, and limbs, and occasionally, the respiratory muscles, whereas tremor and punding are less-common complications. Dystonia is also typically seen in patients with diphasic dyskinesia and wearing-off effect. Recognition of the full spectrum of clinical phenomenology of levodopa-related motor complications is essential for their treatment and prevention. © 2005 Movement Disorder Society [source] Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl,MOVEMENT DISORDERS, Issue 9 2003Emilio Fernández-Álvarez MD Abstract A 16-year-old girl with a history of postural hand tremor was investigated. Magnetic resonance imaging, biochemical, enzymatic, and molecular studies demonstrated glutaric aciduria type I (GA1). Now, at 19 years of age, focal dystonia and oral dyskinesia are also present. This is the first reported case of GA1 with such clinical phenotype. © 2003 Movement Disorder Society [source] The clinical features and surgical treatment of degenerative lumbar scoliosis: A review of 112 patientsORTHOPAEDIC SURGERY, Issue 3 2009Wei Liu MD Objective:, To investigate the clinical features, radiological characteristics and surgical results of degenerative lumbar scoliosis (DLS). Methods:, One hundred and twelve cases of DLS treated surgically from June 2001 to February 2006 were retrospectively reviewed for clinical features, characteristics of nerve root compression and imaging presentations. According to the preoperative clinical manifestations and imaging findings, different surgical modalities were performed, including simple nerve decompression and decompression with short or long posterior fusion (less or more than three segments, respectively). Results:, The mean age of 47 male and 65 female patients was 54.7 years. Clinical manifestations included lower back pain (76.8%), radiculopathy (79.5%) and claudication (48.2%). Plain lumbar radiograph showed right scoliosis in 87 and left scoliosis in the other 25 cases; the Cobb angle was 10°,46°; the apex of scoliosis mostly located at L3 (48.2%); L3 and L4 nerve roots were usually compressed on the concave side and L5 and S1 nerve roots on the convex side. The Cobb angle and physiologic lordosis angle of patients who underwent multi-segment (>3 segments) fusion improved to a greater extent than did that of patients who had simple decompression without fusion. A mean 5.7-year follow-up showed that the average improvement in Oswestry disability index (ODI) scores was 32.6, 26.3 and 13.5 for long segment fusion, short segment fusion and simple decompression without fusion, respectively. Conclusion:, Decompression surgery with or without fusion, the main purpose of which is to relieve nerve root compression and stabilize the spinal column, is an effective treatment for chronic DLS. The treatment should be individualized according to the patient's age, general and economic factors, severity of deformity and other coexisting lumbar degenerative disorders. [source] Clinical manifestations of combined factor V and VIII deficiency: A series of 37 cases from a single center in India,AMERICAN JOURNAL OF HEMATOLOGY, Issue 7 2010Auro Viswabandya No abstract is available for this article. [source] Holocarboxylase Synthetase Deficiency Presenting as IchthyosisPEDIATRIC DERMATOLOGY, Issue 2 2006H. Alan Arbuckle M.D. Clinical manifestations usually present within the first few days of life and include severe acidosis, feeding difficulties, breathing abnormalities, vomiting, seizures, progressive loss of consciousness, coma, and death. Skin findings, when present, usually develop within the first weeks of life and are described as an erythroderma-like dermatitis involving the eyebrows, eyelashes, and scalp. We were asked to consult on a newborn with a collodion membrane and severe metabolic acidosis who was eventually diagnosed with holocarboxylase synthetase deficiency and ichthyosis. The diagnosis of holocarboxylase synthetase deficiency might be considered in a newborn with collodion membrane, ichthyosis, and acidosis. [source] Post-transplant lymphoproliferative disorder after pediatric liver transplantation: Characteristics and outcomePEDIATRIC TRANSPLANTATION, Issue 3 2009María C. Fernández Abstract:,Purpose:, Post-Transplant Lymphoproliferative Disorder (PTLD) is a life threatening complication in organ transplant recipients. Risk factors include primary Epstein-Barr virus infection, intensity of immunosupression and cytomegalovirus infection. Objectives:, To evaluate the incidence, clinical presentation, risk factors, histopathologic appearance and outcome of pediatric liver recipients with PTLD at our institution. Method:, Retrospective, descriptive and observational analysis. Between November 1992 and December 2005, 383 liver transplants were performed. The diagnosis of PTLD was based on clinical history and physical examination and confirmed by histologic appearance and immunohistologic staining. Knowles' classification was used for histopathologic diagnosis. Results:, The incidence of PTLD was 5.7% (n: 22p). The average onset after tansplantation (OLT) was 24.9 months. Clinical manifestations were malaise, anorexia, fever of more than 3 days, peripheral adenopathy, tonsillar hypertrophy, abdominal mass, hepatosplenomegaly, snoring, interstitial pulmonary infiltrate, G.T.-tract bleeding, rash, submaxilar mass. Histopathologic diagnosis were Plasmocytic Hyperplasia (n: 10), Polymorphic Lymphoproliferative Disorder (n: 8), Non-Hodgkin Lymphoma (n: 4). Mortality was 18%. Conclusion:, The clinical presentations were protean and not specific. A high index of suspicion is important for early diagnosis as it correlates with more benign lesions and more favorable outcume. The lower mortality rate in our series is concordant with that reported in more recent articles. [source] Clinical Manifestations of Superior Semicircular Canal Dehiscence,THE LARYNGOSCOPE, Issue 10 2005Lloyd B. Minor MD Abstract Objectives/Hypotheses: To determine the symptoms, signs, and findings on diagnostic tests in patients with clinical manifestations of superior canal dehiscence. To investigate hypotheses about the effects of superior canal dehiscence. To analyze the outcomes in patients who underwent surgical repair of the dehiscence. Study Design: Review and analysis of clinical data obtained as a part of the diagnosis and treatment of patients with superior canal dehiscence at a tertiary care referral center. Methods: Clinical manifestations of superior semicircular canal dehiscence were studied in patients identified with this abnormality over the time period of May 1995 to July 2004. Criteria for inclusion in this series were identification of the dehiscence of bone overlying the superior canal confirmed with a high-resolution temporal bone computed tomography and the presence of at least one sign on physiologic testing indicative of superior canal dehiscence. There were 65 patients who qualified for inclusion in this study on the basis of these criteria. Vestibular manifestations were present in 60 and exclusively auditory manifestations without vestibular symptoms or signs were noted in 5 patients. Results: For the 60 patients with vestibular manifestations, symptoms induced by loud sounds were noted in 54 patients and pressure-induced symptoms (coughing, sneezing, straining) were present in 44. An air-bone on audiometry in these patients with vestibular manifestations measured (mean ± SD) 19 ± 14 dB at 250 Hz; 15 ± 11 dB at 500 Hz; 11 ± 9 dB at 1,000 Hz; and 4 ± 6 dB at 2,000 Hz. An air-bone gap 10 dB or greater was present in 70% of ears with superior canal dehiscence tested at 250 Hz, 68% at 500 Hz, 64% at 1,000 Hz, and 21% at 2,000 Hz. Similar audiometric findings were noted in the five patients with exclusively auditory manifestations of dehiscence. The threshold for eliciting vestibular-evoked myogenic potentials from affected ears was (mean ± SD) 81 ± 9 dB normal hearing level. The threshold for unaffected ears was 99 ± 7 dB, and the threshold for control ears was 98 ± 4 dB. The thresholds in the affected ear were significantly different from both the unaffected ear and normal control thresholds (P < .001 for both comparisons). There was no difference between thresholds in the unaffected ear and normal control (P = .2). There were 20 patients who were debilitated by their symptoms and underwent surgical repair of superior canal dehiscence through a middle cranial fossa approach. Canal plugging was performed in 9 and resurfacing of the canal without plugging of the lumen in 11 patients. Complete resolution of vestibular symptoms and signs was achieved in 8 of the 9 patients after canal plugging and in 7 of the 11 patients after resurfacing. Conclusions: Superior canal dehiscence causes vestibular and auditory symptoms and signs as a consequence of the third mobile window in the inner ear created by the dehiscence. Surgical repair of the dehiscence can achieve control of the symptoms and signs. Canal plugging achieves long-term control more often than does resurfacing. [source] | |||||||||||||||||||||||||||||||||||||||||||