Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America.

Introduction. Monogenic mutations as the cause of recurrent ischemic cerebral small-vessel disease with leukodystrophy are rare. COL4A1 gene mutations are a relatively new etiology of cerebrovascular lesions in young adults; however, any patient has been reported from Latin America. Case Presentation. We presented a Mexican young female with leukodystrophy and recurrent stroke secondary to COL4A1 monogenic mutation. Discussion/Conclusion. COL4A1 monogenic mutations are associated with cerebral small-vessel disease and other systemic manifestations. To date, there is little evidence to justify the treatment and prevention of recurrent strokes in patients with this mutation.

Clinical, Therapeutic, and Prognostic Experience in Patients With Glioblastoma.

BACKGROUND: Glioblastoma (GB) represents the most aggressive type of glioma with a poor prognosis despite the therapies used. As of today, data availability for therapeutic and prognosis experiences is limited. The cornerstone for this study is to create a framework overview of Mexico´s experience throughout 17 years of research. METHODS: Retrospective analysis from 2000 to 2017 including patients with a histological diagnosis of GB was performed. Data were collected from the ABC Medical Center and the Neurology and Neurosurgery National Institute. RESULTS: One hundred and thirty-seven patients were included with a mean age of 54 years. Histological diagnosis was made in all patients, of which 58.1% had a total resection, 31.6% had a partial resection, and 10.3% of them underwent biopsy. In all cases, patients received treatment under the following conditions: 10 patients were treated exclusively with stereotactic radiotherapy (RT). In 55 patients, a combination of RT and TMZ was used, the other 40 patients received RT plus CBP. Eighteen patients RT added to nitrosourea medication and lastly, 14 patients received a combination of RT/TMZ and Bevacizumab, a monoclonal antibody that inhibits the formation of blood vessels (BVZ). The progression-free survival (PFS) and overall survival (OS) were higher in the RT/TMZ/BVZ group (16.5 to 22.9 months) and the RT/TMZ group (11 to 17 months), the prognostic parameters included: Isocitrate dehydrogenase 1 mutation (IDH1), usage of BVZ and TMZ in the PLS and OS, considering as well, age range (<70 years) as a favorable prognostic factor. CONCLUSIONS: GB represents the most frequent intracranial neoplasia. Combined fractionated stereotactic RT added to Temozolomide and Bevacizumab received in our population reports favorable and superior results compared to the ones described in the literature. Further studies are necessary to know the biological behavior of our population.

The Comparative Treatment of Intraventricular Chemotherapy by Ommaya Reservoir vs. Lumbar Puncture in Patients With Leptomeningeal Carcinomatosis.

Object: Leptomeningeal Carcinomatosis (LCM) represents a state of systemic malignant disease with poor prognosis. The purpose of this study is to compare overall survival (OS) between intraventricular chemotherapy through Ommaya reservoir (OR) and chemotherapy through lumbar puncture (LP) in LCM. Patients and Methods: Forty adult patients with LCM were included. All patients underwent lumbar puncture and Magnetic resonance imaging (MRI). Thirty patients received chemotherapy through LP and 10 undergone colocation of Ommaya reservoir for intraventricular chemotherapy. Results: The most common symptom was headache (Present in 50%). The cranial nerves most affected were VI and VII. Leptomeningeal enhancement was the most frequent finding in MRI. The OS in the LP group was 4 months and Ommaya group was 9.2 months (p = 0.0006; CI:1.8-3), with statistical differences in favor to Intraventricular treatment. Proportional hazard regression showed that receiving chemotherapy through Ommaya reservoir was a protective factor (Hazard ratio = 0.258, Standard Error = 0.112, p = 0.002 and 95% CI 0.110-0.606). Using KPS as a factor did not affect the hazard ratio of Ommaya reservoir itself. Conclusions: OS was significantly higher in patients with Ommaya reservoir in spite of Karnofsky Performance Status (KPS) previous to chemotherapy. Therefore, intraventricular chemotherapy should be preferred over lumbar puncture chemotherapy administration if there are resources available.

[Primary Tumors of the Central Nervous System. Clinical Experience at a Third Level Center].

Background: Central nervous system (CNS) tumors are a group of neoplasms that originate from various cells in the CNS. The increasing incidence and prevalence of this type of tumor in developing countries are striking; however, there are few current studies in Latin America including Mexico estimating the impact of these pathological entities on the general population. Objective: The objective of the study was to study the characteristics of primary CNS tumors over a period of 52 years. Methods: A review of records from patients with a histopathological diagnosis of CNS neoplasm over a period of 52 years was conducted at a tertiary-care academic medical center. Patients were grouped by sex, age, and the tumor's anatomical location. Results: A sample of 9615 patients with tumor lesions was obtained; 51% were female, 49% were male, and their mean age was 42 years. The tumors with the highest prevalence were neuroepithelial tumors (38.6%), followed by meningeal tumors (22.8%). Neuroepithelial tumors accounted for 64% in the group of patients under 40 years of age and 56% among those above 40 years of age. The most frequently involved location was supratentorial, in 78.9% of cases. Conclusions: Although retrospective in nature and based on a small sample, this study reports the epidemiology and characteristics of primary brain tumors in the Mexican population.

Neuroprotective effect of dapsone in patients with acute ischemic stroke: a pilot study.

OBJECTIVES: In a previous study of brain ischemia in rats, dapsone (4,4'-diamino-diphenylsulfone) was associated with a neuroprotective effect. As dapsone is safe and relatively free of adverse reactions, we conducted a pilot clinical trial to assess the possibility of using this drug in patients with a cerebral infarction. METHODS: A double-blind, placebo-controlled, pilot clinical trial of dapsone was conducted from January 1999 to January 2000. Thirty patients with a CT or MRI documented ischemic stroke in the territory of the middle cerebral artery were included. Patients with >4 points of the National Institute of Health Stroke Scale (NIHSS) were randomly allocated to receive either a single dose of 200 mg dapsone or placebo. For follow-up, NIHSS on days 0, 2, 7 and 60, modified Rankin scale and Barthel index at day 60 were applied. Adverse reactions were also recorded. The main cut point was considered when a patient obtained a variation of 2 points for modified Rankin scale and 17 points for Barthel index. RESULTS: Fifteen patients received dapsone and 15 received placebo. Twenty-nine were followed up for 60 days and one patient in the treatment group died during follow-up. Favorable scores were achieved for treated patients by all different measures; NIHSS (p=0.032), Barthel (p=0.049) and Rankin scale (RR=0.182, 95% CI: 0.04 and 0.86). Best results were obtained when treatment started within the first 8-10 hours after stroke. No adverse reactions related to medication were reported. DISCUSSION: Dapsone appears as a useful and safe drug for the treatment of stroke patients. Results of this pilot trial are promising and support further research to define the role of dapsone as a neuroprotective drug.