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Biomedical subjects

J Dalmau

Publications and source records attributed to J Dalmau.

At least 19 recordsLinked to original sources
PubMed2006

Orchiectomy for suspected microscopic tumor in patients with anti-Ma2-associated encephalitis.

OBJECTIVE: To report the presence of microscopic neoplasms of the testis in men with anti-Ma2-associated encephalitis (Ma2-encephalitis) and to discuss the clinical implications. METHODS: Orchiectomy specimens were examined using immunohistochemistry with Ma2 and Oct4 antibodies. RESULTS: Among 25 patients with Ma2-encephalitis younger than 50 years, 19 had germ-cell tumors, and 6 had no evidence of cancer. These 6 patients underwent orchiectomy because they fulfilled five criteria: 1) demonstration of anti-Ma2 antibodies in association with MRI or clinical features compatible with Ma2-encephalitis, 2) life-threatening or progressive neurologic deficits, 3) age < 50 years, 4) absence of other tumors, and 5) new testicular enlargement or risk factors for germ-cell tumors, mainly cryptorchidism or ultrasound evidence of testicular microcalcifications. All orchiectomy specimens showed intratubular-germ cell neoplasms unclassified type (IGCNU) and other abnormalities including microcalcifications, atrophy, fibrosis, inflammatory infiltrates, or hypospermatogenesis. Ma2 was expressed by neoplastic cells in three of three patients examined. Even though most patients had severe neurologic deficits at the time of orchiectomy (median progression of symptoms, 10 months), 4 had partial improvement and prolonged stabilization (8 to 84 months, median 22.5 months) and two did not improve after the procedure. CONCLUSIONS: In young men with Ma2-encephalitis, 1) the disorder should be attributed to a germ-cell neoplasm of the testis unless another Ma2-expressing tumor is found, 2) negative tumor markers, ultrasound, body CT, or PET do not exclude an intratubular germ-cell neoplasm of the testis, and 3) if no tumor is found, the presence of the five indicated criteria should prompt consideration of orchiectomy.

Adult↗
PubMed2006

Autoimmune limbic encephalitis in 39 patients: immunophenotypes and outcomes.

BACKGROUND: About 40% of patients with limbic encephalitis do not have detectable CNS antibodies. Some of these patients have immune-mediated limbic encephalitis, but their frequency is unknown. AIMS: (1) To determine the spectrum of limbic encephalitis identified on clinical grounds in a single institution, and compare it with that in patients referred for antibody analysis. (2) To correlate clinical outcomes with the cellular location of the autoantigens. METHODS: Prospective clinical case studies. Immunohistochemistry with rat brain, live hippocampal neurones, HeLa cells expressing Kv potassium channels and immunoblot. RESULTS: In 4 years, 17 patients were identified in the Hospital of the University of Pennsylvania, Philadelphia, USA, and the serum or CSF samples of 22 patients diagnosed elsewhere were also studied. 9 of our 17 (53%) patients had antibodies to known neuronal antigens (paraneoplastic or voltage gated potassium channels (VGKCs)) and 5 (29%) to novel cell-membrane antigens (nCMAg) typically expressed in the hippocampus and sometimes in the cerebellum. Considering the entire series, 19 of 39 (49%) patients had antibodies to known antigens, and 17 (44%) to nCMAg. Follow-up (2-48 months, median 19 months) was available for 35 patients. When compared with patients with antibodies to intraneuronal antigens, a significant association with response to treatment was found in those with antibodies to cell-membrane antigens in general (VGKC or nCMAg, p = 0.003) or to nCMAg (p = 0.006). CONCLUSIONS: (1) 82% of patients with limbic encephalitis prospectively identified on clinical grounds had CNS antibodies; (2) responsiveness to treatment is not limited to patients with VGKC antibodies; (3) in many patients (29% from a single institution), the autoantigens were unknown but were found to be highly enriched in neuronal cell membranes of the hippocampus; and (4) these antibodies are associated with a favourable outcome.

Adult↗
PubMed2006

Early pathologic findings and long-term improvement in anti-Ma2-associated encephalitis.

A 67-year-old man sequentially developed anti-Ma2-associated paraneoplastic encephalitis (PNE) and contralateral herpes simplex encephalitis (HSE). Brain biopsy 1 month before HSE revealed extensive infiltrates of T cells, B cells, and plasma cells. Most T cells expressed the cytotoxic granule-associated protein TIA-1 and the membranolytic protein granzyme-B. Although recovery was thought to be unlikely, treatment of the PNE with corticosteroids and resection of the associated lung cancer resulted in dramatic improvement for 21 months.

Aged↗
PubMed2006

Protein kinase Cgamma autoimmunity in paraneoplastic cerebellar degeneration and non-small-cell lung cancer.

BACKGROUND: The clinical and immunological profiles of patients with paraneoplastic cerebellar degeneration (PCD) and non-small-cell lung cancer (NSCLC) are not well known. OBJECTIVE: To review the clinical and immunological features of patients with PCD, NSCLC and without well-characterised onconeural antibodies. METHODS: The clinical features of nine patients with the diagnosis of classical PCD and NSCLC, included in our archives, were retrospectively reviewed. The presence of antibodies to cerebellar components was determined by immunohistochemistry and immunoblot of rat cerebellum. A cDNA library of human cerebellum was screened with the positive sera to identify the antigen. RESULTS: Nine patients with PCD and NSCLC were identified. Six patients were men, and the median age at diagnosis of PCD was 63 (range 47-73) years. PCD was completely reversed in two patients, and partially in one, after treatment of the tumour. The serum of one of the patients with PCD showed a unique reactivity with Purkinje cells. The screening of a cerebellar-expression library resulted in the isolation of protein kinase Cgamma (PKCgamma). PKCgamma immunoreactivity was not observed in the serum of 170 patients with non-paraneoplastic neurological syndromes, 27 patients with PCD, no onconeural antibodies and small-cell lung cancer, and 52 patients with NSCLC without paraneoplastic neurological syndromes. The NSCLC from 11 patients without PCD did not express PKCgamma at either the RNA or protein level. However, many cells of the NSCLC of the patient with PKCgamma antibodies expressed PKCgamma. CONCLUSION: PCD occurs in patients with NSCLC without typical onconeural antibodies and is associated with immune reactions against key proteins of the Purkinje cells.

Aged↗
PubMed2006

Episodic neurologic dysfunction with migraine and reversible imaging findings after radiation.

Reported are three adults who developed frequent episodes of a complex neurologic syndrome years after radiation therapy for a brain tumor. MRI and [(18)F]fluorodeoxyglucose PET performed during the episodes demonstrated dramatic gyral thickening with enhancement and intense hypermetabolism in symptomatic regions that resolved on follow-up studies. EEG during episodes showed only slowing. The differential diagnosis and imaging findings are reviewed.

Brain Diseases↗
PubMed2006

Nodules on the tongue in an HIV-positive patient.

Syphilis is a sexually transmitted disease caused by Treponema pallidum. Epidemiological studies show that rates have increased dramatically in recent y, especially in human immunodeficiency virus (HIV)-seropositive patients. Although lesions most frequently develop on the genital area, they are presently frequently detected in the oral cavity. We present an HIV-positive patient without antiretroviral treatment and immunologically stable, with firm nodules on the tongue. Following serological tests, clinical symptoms and histopathological findings, lesions were diagnosed as secondary syphilis. A spectacular improvement was achieved with specific treatment. To our knowledge this is the first case described in the literature of secondary syphilis presenting as nodular, painless lesions on the lingual mucosa.

Adult↗
PubMed2006

[A randomized single-blind trial of the effects of vitamins C and E in familial hypercholesterolemia].

INTRODUCTION: The aim of this study was to evaluate the effect of antioxidant vitamin C and E administration on dyslipidemia, plasma fatty acid composition, and biochemical inflammatory markers in children with heterozygous familial hypercholesterolemia (FH). PATIENTS: Forty girls and boys with heterozygous FH, aged between 2 and 18 years, and with plasma low-density lipoprotein (LDL)-cholesterol levels higher than 160 mg/dl were studied. METHODS: We performed an open longitudinal randomized trial over a 1-year period. All children followed a dietary intervention according to the National Cholesterol Education Program (NCEP)-1 guidelines and were randomized into two groups. One group (n = 21) received therapy with vitamin C (500 mg twice a day) and vitamin E (400 IU per day). A second group (n = 19) did not receive vitamin therapy. RESULTS: In patients receiving antioxidant vitamins, plasma linoleic acid levels (18:2 omega-6) significantly increased and the essential fatty acid deficiency ratio significantly decreased (Mead/arachidonic acid: 20:4 omega-6/20:3 omega-9). No significant differences were observed in plasma lipid profile, adhesion molecules, or reactive C protein. CONCLUSIONS: Antioxidant vitamin therapy in children with heterozygous FH modifies the plasma fatty acid profile. These modifications are independent of the degree of dyslipidemia and may represent an indicator of reduced cardiovascular risk.

Adolescent↗
PubMed2006

A case of vulvar pyoderma gangrenosum associated with collagenous colitis.

Pyoderma gangrenosum is a reactive inflammatory dermatosis which belongs to the spectrum of neutrophilic dermatoses. Due to a lack of diagnostic criteria, pyoderma gangrenosum is mainly a diagnosis of exclusion. It is rarely observed on the perineum, and vulvar involvement is even less frequent. Collagenous colitis is an idiopathic inflammatory colonic disease that is included in the microscopic colitides. The colonic mucosa and the crypt architecture are preserved but histologic alterations are found. We describe a case of collagenous colitis associated with vulvar pyoderma gangrenosum that improved spectacularly with cyclosporine 3 mg/kg/day and the twice-daily application of topical tacrolimus 0.1%.

Adult↗
PubMed2005

T cell response to Hu-D peptides in patients with anti-Hu syndrome.

The anti-Hu syndrome is the most common paraneoplastic neurologic syndrome but the exact mechanism of immune mediated neuronal injury remains unknown. Anti-Hu antibodies do not appear to play a pivotal role in the pathogenesis of the disease. To assess cell-mediated immunity, we selected 51 peptides from the Hu-D sequence and tested their ability to bind to six common HLA class I molecules. Stable complexes with purified HLA molecules were obtained with 19/51 (37%) selected peptides. Subsequently, the ability of the 19 HLA-binding peptides to stimulate T cells from 10 patients and 10 control subjects was evaluated by detecting IFN-gamma secretion. An anti-peptide T-cell response was observed in 7/10 Hu-positive patients but also in 3/10 control subjects. Overall, a significant T-cell activation occurred in response to 74% (14 out of 19) of the selected peptides in the Hu-positive patients vs. 16% (3 out of 19) in the control group (p < 0.001). In addition, T cells of patients tested within 3 months of the onset of anti-Hu syndrome responded to 82% (14 out of 17) of assessed Hu-D peptides vs. 37% (7 out of 19) in patients tested 1 year or more after developing the syndrome (p < 0.01). Thus, the present study suggests a role of cellular immunity during the course of anti-Hu syndrome.

Carcinoma, Small Cell↗
PubMed2005

Anti-glial nuclear antibody: marker of lung cancer-related paraneoplastic neurological syndromes.

We describe a new antibody, called anti-glial nuclear antibody (AGNA), in patients with paraneoplastic neurological syndromes (PNS) and small-cell lung carcinoma (SCLC). AGNA was initially identified in 24 sera of our archives by immunohistochemistry on rat cerebellum. AGNA positive sera showed a characteristic nuclear staining of the Bergmann glia in the Purkinje cell layer. Immunoblots and probing a cerebellar expression library with AGNA sera did not identify the antigen. Twenty of the 24 patients with AGNA had PNS and all but two had lung cancer. AGNA was identified in 13/113 (11.5%) patients with SCLC compared with 0/122 with other types of cancer (p<0.0001). The frequency of AGNA was not higher than expected for the presence of SCLC in the different PNS subtypes except in LEMS (p=0.0002). AGNA was present in 13/30 (43%) of LEMS patients with SCLC, compared with 0/19 of LEMS patients without cancer (p=0.0006). We conclude that the recognition of AGNA is helpful since this antibody is found in PNS associated with SCLC, particularly LEMS, in which other onconeural antibodies are absent.

Animals↗
PubMed2005

Contact dermatitis due to clarifying cream.

A 45-year-old woman developed a severe eczematous reaction localized on the application site after using a clarifying cream. Patch testing showed positively to vitamin K1.

Dermatologic Agents↗