Orlando Garcea

Epidemiological characteristics of pregnancy, delivery, and birth outcome in women with multiple sclerosis in Argentina (EMEMAR study)

Background The influence of pregnancy on Multiple Sclerosis (MS) has been extensively studied but such influence on Latin American women with MS has not been characterized. Our objective was to describe the course of pregnancy and birth outcome in Argentinean MS patients and the evolution of MS during pregnancy and after delivery. Method We used a retrospective design in eight MS centers in Argentina and administered a survey to women with definite MS (Mc Donald) with pregnancies during or after MS onset. We contacted 355 women of which 81 met inclusion criteria. We recorded 141 pregnancies. Results Involuntary abortion was observed in 16% of pregnancies (95% CI = 10–23). Thirty five women received immunomodulatory therapy (IMT) before 42 pregnancies. Twenty three (55%) out of 42 pregnancies were exposed to IMT. The mean time of IMT discontinuation before conception in 19 (45.2%) pregnancies without exposure, was 104 days (95% CI = 61.0–147.0). There were 103 deliveries: 79% full term. Birth defects were detected in 19% of pregnancies exposed to IMT (95% CI = 4–46) and in 2% of non-exposed (95% CI = 0.3–8.0). The mean relapse rate was: pre-pregnancy year: 0.22 (95% CI = 0.12–0.32); pregnancy: 0.31 in 1st (95% CI = 0.10–0.52), 0.19 (95% CI = 0.03–0.36) in 2nd, and 0.04 in 3rd trimester (95% CI = –0.04–0.12); 1st trimester post delivery: 0.82 (95% CI = 0.42–1.22). Conclusion We observed a higher rate of birth defects among infants exposed to immunomodulators in utero than those not exposed. The reduction in MS relapses during 2nd and 3rd trimester of pregnancy and its increase during postpartum is consistent with previous reports.

Argentine Patagonia: prevalence and clinical features of multiple sclerosis

There are few studies reporting multiple sclerosis prevalence rates in the Buenos Aires region, Argentina (latitude 34°S) (between 12–18.5/100 000 inhabitants), and no studies have been performed in the larger region between parallels 36° and 55°S. The aim of this study is to determine the prevalence rates and clinical features of multiple sclerosis in residents of the Argentine Patagonia. Four cities from the region were selected for this study, giving a sample population of 417 666 inhabitants (~24% of the total Patagonia population). 1st March 2002 was determined as prevalence day. Patients were ascertained using multiple case-finding methods. The point prevalence rate was 17.2/100 000 (17.2 age-adjusted to the world population). Prevalence rates were higher for women than for men, 22.1 versus 12.2/100 000 inhabitants (21.4 versus 12.7 sex-adjusted to the world population). The study population was mainly of European descent and mestizoes. Clinical features were similar to those reported in other countries. This study shows that Argentine Patagonia is a medium-risk area with no south–north gradient between parallels 55° and 36°S. The Patagonia population shows recent internal migration that makes it difficult to determine whether the exposure to potential risk factors has been long enough to modify the disease incidence.

TNFSFR1A R92Q mutation, autoinflammatory symptoms and multiple sclerosis in a cohort from Argentina

Systemic autoinflammatory diseases are genetic disorders characterized by seemingly unprovoked inflammation, without major involvement of the adaptive immune system. Among them it is recognized the TNF receptor associated periodic syndrome (TRAPS) caused by mutations in the TNFRSF1A gene and characterized by symptoms such as recurrent high fevers, rash, abdominal pain, arthralgia and myalgia. Recent studies have recognized the potential role of TNFRSF1A mutations in Multiple Sclerosis (MS). Our aim was to investigate the role of TNFRSF1A R92Q gene mutation in a cohort of 90 Argentinean MS patients, where we determined the frequency of the TNFRSF1A R92Q mutation. We also compared autoinflammatory symptoms, MS clinical characteristics and treatment response and tolerability in R92Q carriers and non-carriers. Also, we used a case–control study design to obtain the genotypes of 78 healthy controls and assess the role of this mutation as a risk factor for MS. We found that five patients (5.5%) carried the R92Q mutation, four reported autoinflammatory symptoms previous to MS onset. We found no differences in MS clinical features, treatment response and tolerability between carriers and non-carriers. R92Q mutation was more frequent in MS patients as compared to controls. This increases the risk to develop MS in about 4.5 times. The TNFRSF1A R92Q mutation is a common finding in Argentinean MS patients. This genetic variant might be a risk factor for MS.

The Effect of Culture on Two Information-Processing Speed Tests.

The Symbol Digit Modalities Test (SDMT) has been proposed to replace the Paced Auditory Serial Addition Test-3 (PASAT-3) in the Multiple Sclerosis Functional Composite because it has the same validity but easy and shorter administration. However, among the two tests, the one that is most affected by culture is still unknown. The purpose of this study was to compare the performance of Argentinian and North American populations on the SDMT and PASAT-3. The SDMT and PASAT-3 were administered to 137 healthy volunteers from Buffalo, NY, and 137 healthy participants from Buenos Aires, Argentina. Participants were matched by gender, age (±2), and education (±1). Significant differences were found on the SDMT but not on the PASAT-3. Significant and low correlations were found between the tests and years of education. The SDMT is more affected by culture than is the PASAT-3. Possible interpretations of this result are presented.

Increasing prevalence of multiple sclerosis in Buenos Aires, Argentina.

UNLABELLED In 1996, the prevalence of multiple sclerosis (MS) for the metropolitan area of Buenos Aires using the capture-recapture method was estimated to be between 14 and 19.8 cases per 100,000 inhabitants. The aim of this study was to update the prevalence to 2014 following the same methodology. METHODS Gran Buenos Aires is the denomination that refers to the megalopolis comprised by the autonomous city of Buenos Aires and the surrounding conurbation of the province of Buenos Aires. The study was carried out taking December 2014 as the prevalence month. We used the capture-recapture method to estimate the prevalence of MS cross-matching registries from 6 MS Centers from the metropolitan area of Buenos Aires. Log-linear model Poisson regression was used to estimate the number of affected MS patients not detected by any of the 6 sources considered. RESULTS 1035 registries were obtained from the 6 lists from 910 different patients detected. The population of the area based on 2010 census was 12,806,866, the number of MS cases estimated amongst source interactions were 4901. The estimated prevalence was 38.2 per 100,000 inhabitants (95% CI 36.1-41.2). CONCLUSION The study is an update almost 20 years after the first one in the area showing a significant increase in the previous reported prevalence. Our findings are in line with previous studies performed in other regions of the world.

Validation of the PASAT in Argentina

ABSTRACT The Paced Auditory Serial Addition Test (PASAT) is one of the most used neuropsychological tests to assess information processing speed and working memory in brain injured patients. This study was carried out with the purpose of obtaining normative data for the PASAT-3″ in a healthy Argentinean population, which would result in a reference control population. The PASAT-3″ was administered in a sample of 296 healthy voluntary subjects, born and living in Argentina. The age range went from 20 to 70 years-old. The level of education was 0 to 13 or more years of schooling. The sample obtained a mean of 44.60 (SD = 10.72) in the PASAT-3″. It was found that the score obtained in the PASAT-3″ was related to the age and the level of instruction of the participants. Their performance diminished as age increased and, conversely, it increased as the level of instruction was higher. Normative data was obtained for a Latin American population from Argentina. Percentile distributions obtained by decades of age and different levels of education should be considered as useful reference values for clinicians and investigators when applying the PASAT-3″ to assess cognitive function in different pathologies.

Interferon beta-1a in chronic inflammatory demyelinating polyneuropathy: case report

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired immune-mediated neuropathy. It presents with a course of progression which may be slow and steady or step-wise or relapsing. Sensory ataxic polyneuropathy may be the only clinical manifestation of this disease. Treatment with interferon beta1a (INF beta1a) has been tried with different results in patients who were refractory to other, more conventional, immunomodulatory therapies. Here we report on a patient who had a relapsing form of pure sensory ataxic CIDP and who failed to respond to intravenous human immunoglobulin. He was put on INF beta1a for 3 years. During this period he suffered no relapses while his condition stabilized.

Optical coherence tomography as a biomarker of neurodegeneration in multiple sclerosis: A review

Neurodegeneration is one the most important pathological factors which contributes to permanent disability in multiple sclerosis (MS). Optical coherence tomography (OCT) measurements of macular ganglion cell layer (mGCL) and retinal nerve fiber layer (RNFL) have been proposed as biomarkers of axonal damage in MS. The aim of this review is to describe the most relevant findings regarding OCT and axonal damage in MS. We have selected studies that describe retina impairment in MS patients, and those which quantitatively assess the relationship between OCT and physical disability, cognitive impairment and relationship between OCT and magnetic resonance imaging (MRI). Results show that there is a relationship between the degree of retinal layers reduction and physical or cognitive disability and degenerative changes in MRI.

Changes in the Multiple Sclerosis Treatment Paradigm. What Do We Do Now and What Were We Doing Before

Background and Purpose The number of disease-modifying drugs (DMDs) available for treating relapsing-remitting multiple sclerosis is increasing. Numerous drugs have been approved since 2010 in South America, which has increased the complexity of the treatment algorithm. The aim of this study was to determine the changes in multiple sclerosis treatments relative to the underlying causes and the availability of new DMDs in Argentina. Methods A descriptive retrospective study was carried out on a group of 59 patients diagnosed with RRMS who use more than one DMD. Results The first treatment switch occurred before 2010 in 27% of the patients and after 2010 in the other 73%. Efficacy was the main reason for switching during both periods. A second treatment switch was required in 25% of the patients, with this occurring after 2010 in 86.6% of them. Interferon was the most-used drug before 2010 and fingolimod was the most-used drug thereafter. Conclusions We have identified that the tendency for treatment changes has increased following the arrival of new drugs. Efficacy has been the main cause of these changes.

The Role of Information Processing Speed in Clinical and Social Support Variables of Patients with Multiple Sclerosis

Background and Purpose Information processing speed is one of the most impaired cognitive functions in multiple sclerosis (MS). There are two tests widely used for evaluating information processing speed: the Symbol Digit Modalities Test (SDMT) and the Paced Auditory Serial Addition Test (PASAT). To analyze the relationship between processing speed and the clinical and social support variables of patients with MS. Methods A group of 47 patients with relapsing-remitting MS was studied, 31 were women and 16, men. Age: 39.04±13.17, years of schooling: 13.00±3.87, Expanded Disability Status Scale (EDSS): 2.78±1.81, and disease evolution: 8.07±6.26. Instruments of measure; processing speed: SDMT, PASAT, clinical variables: EDSS, Fatigue Severity Scale (FSS), Becks Depression Inventory II (BDI-II), and social support: Medical Outcomes Study Social Support Survey (MOS). Results Significant correlations were found between information processing speed and psychiatric, motor disability and social support variables. The SDMT correlated significantly and negatively with BDI-II, FSS, EDSS, and MOS (p<0.05), whereas the PASAT correlated negatively with FSS and positively with MOS (p<0.05). Information processing speed appeared as the performance predictor of these variables. The SDMT produced significant changes in EDSS (R2=0.343, p=0.000); FSS (R2=0.109, p=0.031); BDI-II (R2=0.124, p=0.018), and MOS (R2=between 0.212 and 0.379, p<0.05). Conclusions Information processing speed has influence on the clinical variables and the social support of patients with MS. These aspects are important to bear in mind for therapeutic approach.