Asymptomatic Severe Vagal and Sympathetic Cardiac Denervation in Holmes-Adie's Syndrome.

A 40-year-old woman was found to have bilateral Adie's pupils and generalized muscle stretch areflexia. She did not have orthostatic hypotension but, in an ECG strip in the office, she appeared to have an almost fixed heart rate. We thus studied the heart rate variability (HRV) and the systolic blood pressure variability (SBPV) in supine and standing position and also during rhythmic breathing. We found a decreased HRV in the time domain with very low standard deviation in supine and standing position and during rhythmic breathing. HRV in the frequency domain was low with a decrease in the absolute power of HF and LF and a decrease in the sympathovagal balance in supine and standing positions. SBPV in the time and frequency domains was found to be normal. This patient with Holmes-Adie syndrome had an asymptomatic severe loss of HRV and a preserved SBPV. The global decrease in the HRV in the time and frequency domains indicated that she had both vagal and sympathetic cardiac denervation, whereas the preserved SBPV suggested normal innervation of the blood vessels.

Subarachnoid hemorrhage as a complication of systemic lupus erythematosus.

BACKGROUND: Subarachnoid hemorrhage (SAH) is a rare complication of systemic lupus erythematosus (SLE). METHODS: We made a retrospective search for patients with SLE and nontraumatic SAH from 1990 to 2006. RESULTS: We found 10 patients with SLE and primary SAH of a total of 1,077 patients with SLE (0.93%); mean age of onset was 37.4 +/- 15.25 years and the mean duration of SLE at the onset of SAH was 98.3 +/- 50.32 months. SLEDAI and chronic damage scores were 3.67 +/- 5.20 (n = 9) and 2.90 +/- 1.45 (n = 10), respectively; 60% of patients had high Hunt-Hess scores and in only 50% of cases a saccular aneurysm was identified. CONCLUSIONS: SAH presents in about 1% of SLE patients. Long duration of SLE and chronic damage scores might be associated risk factors.

Associated conditions in myasthenia gravis: response to thymectomy.

To compare the response of thymectomy in patients with associated conditions (PWAC) and without associated conditions (PWOAC). Comparative, retrospective. 198 patients with the established diagnosis of myasthenia gravis who had a thymectomy between 1987 and 2000, and who were folowed up for at least 3 years. We formed two groups, one with associated conditions and the second without associated conditions. The patients were divided into four groups: (i) patients in remission, (ii) patients with improvement, (iii) patients without changes, and (iv) patients whose condition worsened. Associated conditions (AC) were found in 49 patients (26%). The main associated conditions were hyperthyroidism in 16 patients (33%) hypothyroidism in seven (14%), rheumatoid arthritis in five (10%) and hypothyroidism and Sjogren syndrome in three (6%). Concerning the response of thymectomy, 13 patients WAC showed remission (27%), vs. 54 patients WOAC (39%). Twenty patients WAC showed improvement (41%) vs. 46 WOAC (33%). Thirteen patients WAC had no changes (27%) vs. 37 WOAC (26%). Finally, in three patients WAC their condition worsened (6%) vs. three WOAC (2%). The response to thymectomy was high (69%) in both groups. We did not identify significant differences.

Response of thymectomy: clinical and pathological characteristics among seronegative and seropositive myasthenia gravis patients.

OBJECTIVE: To identify the response to thymectomy in patients with seronegative and seropositive myasthenia gravis (SPMG). We analyzed the associated diseases, thymus histology, and the severity of symptoms between the two groups. MATERIAL AND METHODS - DESIGN: Descriptive, comparative. STUDY UNITS: Fourteen patients with seronegative myasthenia gravis (SNMG) and 57 patients with SPMG who had a thymectomy between 1987 and 1997, with at least 3 years of follow-up. The patients were divided into four groups; (1) Remission, (2) Improvement, (3) No change and (4) Deterioration. RESULTS: Fourteen patients (20%) were seronegative and 57 were seropositive (80%). In the group of patients with SNMG, three patients were in remission (21%), five with improvement (36%), five with no change (36%) and one with worsening (7%). In the group of patients with SPMG, 12 were in remission (21%), 17 with improvement (30%), 25 with no change (44%) and three (5%) with worsening. The patients with SNMG were older, with less associated diseases and with a lower frequency of thymomas. CONCLUSIONS: The response to thymectomy was similar between the two groups. It has been suggested that seronegative patients have a better prognosis, but our results show no differences.

HLA class II genotypes in Mexican Mestizo patients with myasthenia gravis.

Myasthenia gravis is an autoimmune, heterogeneous disorder, characterized by the presence of antibodies against acetylcholine receptors at the neuromuscular junction. There is a strong evidence that an individual's genetic composition is an important predisposing factor for the development of the disease. To correlate HLA class II genotypes with thymic pathology in Mexican Mestizo patients who had been subjected to thymectomy. HLA class II genes were analyzed in 60 patients and in 99 healthy ethnically matched controls. Thymic hyperplasia, atrophy, thymoma, and normal histology were encountered in 56, 33, 8 and 2% of patients, respectively. HLA-DR11 was significantly increased in patients with thymoma compared with healthy controls (pC = 0.001, OR = 13.35, 95% CI 3.5-51.3), compared with the subgroup of hyperplasia patients (pC = 0.005, OR = 15.5, 95% CI 2.78-95.58) and with the atrophy subgroup (pC = 0.04, OR = 10.5, 95% CI 1.75-70.95). This study provides the evidence of an association between HLA class II alleles with clinical and genetic heterogeneity in myasthenia gravis, particularly in those with thymoma (HLA-DR11).

The association of myasthenia gravis and connective tissue diseases. Effects of thymectomy in six cases with rheumatoid arthritis and one case with systemic lupus erythematosus.

OBJECTIVES: To describe the effects of thymectomy in a group of patients with myasthenia gravis (MG) with associated connective tissue diseases (CTD). PATIENTS AND METHODS: We analyzed six patients with CTD and myasthenia. They were followed-up for at least 3 years. RESULTS: Records of a cohort of 132 patients with established diagnosis of MG undergoing thymectomy in our institution between 1987-1999 were reviewed. The percentage of patients with CTD was 5 % (6/132). Five patients had rheumatoid arthritis (RA) and one patient systemic lupus erythematosus (SLE). All patients were women, and the mean age was 38.5 years old (SD 13.7). Mean time of MG diagnosis to operation was 16 months (range from 1 to 144 months). Preoperative Osserman classification was the following: stage IIb, four patients; stage III, one patient; and stage IV, one patient. Before surgery all patients were on anticholinesterase agent (pyridostigmine), and four patients were on corticosteroids. An extended transsternal thymectomy was practiced on five patients and a transcervical thymectomy was performed in the remaining patient. Pathologic findings were as follows: thymic hyperplasia in four patients and thymic atrophy in the other two. Good response (remission or improvement) was present in three patients (50 %) and poor response (no change or worse) in the other three (50 %). CONCLUSIONS: A low response to the thymectomy is observed in patients with MG and associated CTD (RA and an SLE).

Prognostic factors of thymectomy in patients with myasthenia gravis: a cohort of 132 patients.

OBJECTIVE: To identify the response to thymectomy and the factors associated with a poor response, a nested case-control study was performed on 132 patients with an established diagnosis of myasthenia gravis who had had a thymectomy between 1987 and 1997 and had been followed up for at least 3 years. METHODS: In order to assess the response to thymectomy, the following two points were taken into account: (a) the dose of pyridostigmine and other drugs (steroids, azathioprine) that the patient took before and after thymectomy, and (b) the Osserman classification before and after thymectomy. The patients were divided into 4 groups: (1) patients in remission; (2) patients with improvement; (3) patients with no change, and (4) patients who were worse. RESULTS: 91 patients had a good response (69%) and 41 patients had a poor response (31%). The response by groups was as follows: 50 patients were found to be in remission; 41 patients had improved; 34 patients had no changes, and 7 got worse. Being more than 60 years old was associated with a poor prognosis (odds ratio 4.6, CI 1.11-20.32, p 0.01). The patients who had the disease for more than 3 years (odds ratio 2.97, CI 0.79-5.39, p 0.09) had a tendency towards a bad prognosis even though there was no statistical significance, and for those who had it for more than 4 years (odds ratio 2.58, CI 0.89-0.96, p 0.02) the bad prognosis was statistically significant. The patients who had the disease for more than 3 years between diagnosis and thymectomy (odds ratio 2.02, CI 0.69-5.90, p 0.15) and those with it for more than 4 years (odds ratio 2.53, CI 0.83-7.7, p 0.06) had a tendency towards a poor prognosis even though there was no statistical significance. In addition, having Osserman I was associated with a bad prognosis. Referring to the pathological findings, patients with thymoma (odds ratio 3.51, CI 0.43-31.5, p 0.15) and those with thymic atrophy (odds ratio 2.19, CI 0.93-5.16, p 0.04) had a poor prognosis. Finally, the use of steroids before thymectomy (odds ratio 2.26, CI 0.99-5.18, p 0.03) was associated with a worse prognosis. CONCLUSIONS: The response to thymectomy was high (69%). The variables that had the most prognostic importance were age and the Osserman stage. Other variables of poor prognosis were: high doses of pyridostigmine and use of steroids before surgery; the total duration of the disease and the duration of the disease between diagnosis and the surgical procedure; history of previous thymectomy; use of plasmapheresis after surgery, and the discovery of thymic atrophy and thymoma in the histopathological result.

Horizontal appendicular dysmetria in four patients with a typical Wallenberg's syndrome.

During the acute stage of a Wallenberg's syndrome ipsilateral appendicular dysmetria is frequently seen. The dysmetria is more apparent in the ipsilateral upper extremity. These patients also have a peculiar type of dysmetric eye movements that are characterized by hypermetric saccades toward the side of the lesion and hypometric saccades to the opposite side. We examined four patients with acute Wallenberg's syndrome and found horizontal dysmetria of the affected extremity. Hypermetric arm and hand movements were present to the side of the lesion and hypometric movements toward the opposite side. This type of dysmetria is probably related to the same patophysiological mechanism that underlies dysmetric eye movements in the Wallenberg's syndrome. The dysmetria tends to disappear with time although it continues to be present in some patients six months after the ischemic damage.

HLA class II genotypes in Mexican Mestizos with familial and nonfamilial multiple sclerosis.

Predisposition to MS is associated with the HLA-DR2 antigen in white patients. The authors investigated the genetic factors behind the increasing frequency of MS in the Mexican population. HLA-DR and DQ were analyzed in 17 patients with MS, 15 of their first-degree relatives, and 99 healthy ethnically matched controls. DR2 or DR3 was found in 15 of 17 patients. In controls, both alleles had frequencies less than 0.05. MS in Mexican patients was associated with HLA-DR2 and DR3.

[The other genome: the clinical concept of mitochondrial cytopathies or disorders of pxidative phosphorylation]. / El otro genoma: el concepto clínico de las citopatías mitocondriales o enfermedades de la fosforilación oxidativa.

The investigations of mitochondrial DNA abnormalities and its relationship with derangements of oxidative phosphorylation and electron transport system, has yielded description a myriad of syndromes called mitochondrial diseases or cytopathies. The objective of this paper is to review the clinical relevant features of this heterogeneous group of diseases, to understand the board spectrum of signs and symptoms and suggest an algorithm for the diagnosis.

Kearns-Sayre syndromes an absolute indication for prophylactic implantation of definitive pacemaker?

Kearns-Sayre syndrome is a mitochondrial cytopathy characterized by chronic progressive external ophthalmoplegia, retinitis pigmentosa and heart block, the last of which determines the survival of these patients. The case of a 23 year old man with Kearns-Sayre syndrome, conduction disturbances and mitral valve prolapse is presented. The characteristics of this syndrome are described and the criteria for prophylactic installation of a pacemaker discussed.

[Elevation of total urinary catecholamines in patients with subarachnoid hemorrhage]. / Elevación de catecolaminas urinarias totales en pacientes con hemorragia subaracnoidea.

We designed a prospective study in order to evaluate total urinary catecholamines in patients with subarachnoid hemorrhage (SAH) and correlate them with some prognostic factors and its complications. We studied 24 patients: 19 were normotensive, five had had a previous arterial hypertension that persisted during the SAH, and five developed the hypertension during the SAH. The latter showed cardiac complications with a more severely affected Hunt and Hess scale and a higher level of excretion of urinary catecholamines than the normotensive patients (p < 0.003). The cases with previous arterial hypertension that persisted during the SAH had more complications than the normotensive patients but in a lesser degree compared to chose who developed the hypertension during the SAH.

Humoral immune response in patients with cerebral parenchymal cysticercosis treated with praziquantel.

The humoral immune response to treatment with praziquantel (PZQ) was studied in eight patients with parenchymal cerebral cysticercosis (CC). In the serum and in the cerebrospinal fluid (CSF) before, during and after the administration of the drug, the following were quantitated (a) levels of specific anticysticercous antibodies measured in optical densities by the ELISA method; (b) levels of IgG, IgM, IgA and IgE; (c) levels of complement fraction C3, C4; (d) presence of immune complexes; (e) total number of white blood cells in the CSF. It was found that after treatment with PZQ, the level of specific anticysticercous antibodies and the level of IgG rose significantly in the CSF but not in the blood. The levels of the fractions of the complement and the immunoglobulins IgM, IgA and IgE did not change significantly either in the serum or in the CSF. The blood-brain barrier was found ruptured in three patients before therapy and in five patients after the therapy as measured by the albumin index. Nevertheless, the IgG index showed that there was local production of IgG in five patients before treatment and in seven after the end of it. The relative specific antibody index was greater than 1.0 in five patients before therapy and in seven after therapy. This data strongly supports the idea that the specific antibodies are produced intrathecally and are not derived from the serum pool through a ruptured blood-brain barrier. It was concluded that patients with parenchymal CC have an elevation of specific anticysticercous probably due to a combination of a ruptured blood-brain barrier and intrathecal synthesis. The relatively small rupture of the blood-brain barrier and the high IgG and relative specific antibody index suggest that intrathecal synthesis is the most important mechanism. The humoral immune response may be of importance not only in the elimination of the parasite but also in the genesis of the illness.

[Leopard syndrome with hypertrophic obstructive cardiomyopathy and cerebral arteriovenous malformation. Report of a case]. / Síndrome de Leopard con cardiomiopatía hipertrófica obstructiva y malformación arteriovenosa cerebral. Informe de un caso.

We report a case of a 27-year-old woman with Leopard syndrome in which we observed the association of hypertrophic obstructive cardiomyopathy with arteriovenous cerebral shunt. This association has not been reported previously in the literature.