High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation.

Objective: Studies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking. Recent data has shown that Hispanic and Latino children display lower genetic diagnostic rates despite similar prevalence rates of SNHL to their Asian and White counterparts, thus negatively affecting their clinical care. Our objective was to determine the genetic contribution to SNHL in a population of Mexican children undergoing evaluation for cochlear implantation. Methods: Pediatric patients from Mexico with severe to profound SNHL undergoing evaluation for cochlear implantation were recruited. Exome sequencing (ES) or hearing loss gene panel testing was performed. Variant pathogenicity was established in accordance to criteria established by the American College of Medical Genetics, and variants of interest were clinically confirmed via CLIA certified laboratory. Results: Genetic evaluation was completed for 30 Mexican children with severe to profound SNHL. A genetic cause was identified for 47% (14) of probands, and 7% (2) probands had an inconclusive result. Of the diagnoses, 10 (71%) were syndromic or likely syndromic, and 4 (29%) were nonsyndromic. Eight probands (80% of all syndromic diagnoses) were diagnosed with a syndromic form of hearing loss that mimics a nonsyndromic clinical presentation at a young age and so could not be suspected based on clinical evaluation alone without genetic testing. Conclusion: This is the largest study to date to use comprehensive genomic testing for the evaluation of Mexican children with severe to profound SNHL. A significant proportion of children in this cohort were diagnosed with syndromic hearing loss. Future study in a larger cohort of Mexican children with varying degrees of hearing loss is required to improve the efficacy of genetic testing and timely medical intervention within these ethnically diverse populations. Level of evidence: Level 4 (cohort study).

High-Grade Glioma is not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient.

BACKGROUND: The Manchester criteria for neurofibromatosis type 2 (NF2) include a range of tumors, and gliomas were incorporated in the original description. The gliomas are now widely accepted to be predominantly spinal cord ependymomas. OBJECTIVE: To determine whether these gliomas include any cases of malignant glioma (WHO grade III and IV) through a database review. METHODS: The prospective database consists of 1253 patients with NF2. 1009 are known to be alive at last follow-up. RESULTS: There was a single case of glioblastoma multiforme (GBM; World Health Organization grade IV) in the series and no WHO grade III gliomas. The GBM was in a patient who had previously undergone stereotactic radiosurgery for a vestibular schwannoma. CONCLUSION: High-grade gliomas are not a feature of NF2 in the unirradiated patient and should be excluded from the diagnostic criteria.

Difference between early clinical features of swine origin A H1N1 influenza confirmed and not confirmed infection in Mexico.

INTRODUCTION: The Swine Origin A H1N1 Influenza Virus (SOIV) pandemic emerged in April 2009 affecting people and health-care systems worldwide. This study examined the differences among the early clinical features presented in confirmed SOIV cases, those who tested negative for SOIV infection, fatalities, and hospitalized cases. METHODOLOGY: We reviewed 1,024 initial medical records of patients presenting with acute respiratory symptoms who attended the respiratory emergency room of a general hospital in Mexico and had a confirmatory test for influenza AH1N1 by RT-PCR from April to December 2009. RESULTS: Out of 1,024 cases, 457 (44%) were men with a mean age of 31±17 years; however, of these, SOIV confirmed cases were younger (26±8, p=0.000). SOIV infection was confirmed in 36% of the patients. Most (%?) cases presented mild infection, 20% of the patients required hospitalization, and 0.09% patients died. Asthma was more frequent in confirmed cases (p=0.028). Presence of COPD, systemic arterial hypertension, and diabetes mellitus was significant in confirmed hospitalized cases. Pulmonary rales, wheezing, and sudden symptom onset were more frequent and statistically significant in confirmed patients. Influenza-like illness was more frequent in confirmed cases (p=0.049).  CONCLUSIONS: This study presents one of the largest series of the new SOIV infection confirmed by RT-PCR reported. This infection is frequently mild and affects mainly young adults. Sudden symptoms onset, pulmonary rales, and wheezing are early features of this infection. Asthma, COPD, systemic arterial hypertension, and diabetes mellitus should be identified to identify potentially severe and fatal cases. ILI helps distinguish SOIV infection.

Endothelial dysfunction in recently diagnosed type 2 diabetic patients evaluated by PET.

PURPOSE: To demonstrate the presence of endothelial dysfunction (ED) in asymptomatic patients with type 2 diabetes mellitus (DM) by using (13)N-ammonia-positron emission tomography (PET). PET can identify ED by quantifying myocardial blood flow (MBF) during rest, cold pressor test (CPT), and pharmacologic stress. The endothelial-dependent vasodilation index (EDVI), myocardial flow reserve (MFR), and the percentage of the change between rest and CPT (%DeltaMBF) are markers of endothelial function. PROCEDURES: Thirty-nine subjects were studied (19 women and 20 men); 22 recently diagnosed type 2 diabetic patients and 17 healthy controls (HC). A three-phase (13)N-ammonia-PET was performed. RESULTS: Mean EDVI was 1.208 +/- 0.34 vs. 1.55 +/- 0.37 (diabetic vs. HC group, respectively) (p = 0.002), MFR was 2.803 +/- 1.39 vs. 3.27 +/- 0.72 (p = NS), and the %DeltaMBF was 20 +/- 34% vs. 55 +/- 37% (p = 0.002). Rest MBF and CPT MBF were normalized to the rate pressure product (RPP). EDVI' and %DeltaMBF' were calculated using the corrected values for the RPP. Mean EDVI' was (0.864 +/- 0.250 vs. 1.110 +/- 0.238, p = 0.004) and mean %DeltaMBF' was (-8.2 +/- 14.7% vs. 4.5 +/- 12.1%, p = 0.005). CONCLUSIONS: Asymptomatic, recently diagnosed type 2 diabetes patients present ED that can be quantified by (13)N-ammonia-PET.

Detección de inflamación en placa aterosclerosa: rol de la tomografía por emisión de positrones y de la proteína C reactiva / Detection of inflammation in an atherosclerose plaque: the role of the positron emission tomography and C reactive protein

OBJECTIVES: To demonstrate that inflammatory atheromatose carotid plaques can be visualized with positron emission tomography with 18F-fluorodeoxyglucose (18FDG PET) in symptomatic patients, in order to correlate them with systemic inflammatory markers, such as CRP. METHOD: Fifteen patients with cerebral ischemia due to atherosclerotic carotid disease were studied. 18FDG uptake with PET was considered and blood samples were taken for determining high sensibility C reactive protein (HsCRP). RESULTS: The mean age of the patients was 66 years; 11 of them were males (73%) and 4 were females (27%). 18FDG PET was positive in 12 patients (80%), while 100% of the studied population had low risk HsCRP with normal white cell count. CONCLUSIONS: 18FDG PET proves active inflammation in carotid atheromatose plaques. There was no significant correlation between the presence of ahteromatose carotid plaques, HsCRP serum levels, and 18FDG PET study.

[Computer multidetector tomography of coronary arteries. State-of-the-art. Part 1. Technical aspects]. / Tomografía computada multidetector de arterias coronarias: estado del arte. Parte I: aspectos técnicos.

The study of atherosclerotic disease in coronary arteries is fundamental since it is the first cause of death in the Western hemisphere. The gold standard for its diagnosis is invasive angiography, but it contributes to an increase in costs for this group of patients. Nowadays fourth generation computed tomography (CT) equipments can construct acquisition data of up to 256 images in only 400 milliseconds (ms), which is 900 to 1000 times faster than first generation apparatus. CT multidetector (CTMD) is the noninvasive choice diagnosis method for a vascular evaluation of the thorax. Its role in the study of the heart was limited, but today it is possible to obtain three-dimensional heart and whole body images in only seconds. CTMD is a fast, low-cost, noninvasive method that generates cardiac and extra cardiac images without adjacent structure interference. The higher temporal resolution due to an increase of the gantry's rotation and new reconstruction algorithms, as well as its higher spatial resolution and elevated time acquisition due to the presence of more detectors, have permitted CTMD to give significantly better and precise diagnosis of coronary arteries.

Tomografía computada multidetector de arterias coronarias: estado del arte. Parte I: aspectos técnicos / Computer multidetector tomography of coronary arteries: state-of-the-art. Part 1: technical aspects

The study of atherosclerotic disease in coronary arteries is fundamental since it is the first cause of death in the Western hemisphere. The gold standard for its diagnosis is invasive angiography, but it contributes to an increase in costs for this group of patients. Nowadays fourth generation computed tomography (CT) equipments can construct acquisition data of up to 256 images in only 400 milliseconds (ms), which is 900 to 1000 times faster than first generation apparatus. CT multidetector (CTMD) is the noninvasive choice diagnosis method for a vascular evaluation of the thorax. Its role in the study of the heart was limited, but today it is possible to obtain three-dimensional heart and whole body images in only seconds. CTMD is a fast, low-cost, noninvasive method that generates cardiac and extra cardiac images without adjacent structure interference. The higher temporal resolution due to an increase of the gantry's rotation and new reconstruction algorithms, as well as its higher spatial resolution and elevated time acquisition due to the presence of more detectors, have permitted CTMD to give significantly better and precise diagnosis of coronary arteries.

[Detection of inflammation in an atherosclerose plaque: the role of the positron emission tomography and C reactive protein]. / Detección de inflamación en placa aterosclerosa: rol de la tomografía por emisión de positrones y de la proteína C reactiva.

OBJECTIVES: To demonstrate that inflammatory atheromatose carotid plaques can be visualized with positron emission tomography with 18F-fluorodeoxyglucose (18FDG PET) in symptomatic patients, in order to correlate them with systemic inflammatory markers, such as CRP. METHOD: Fifteen patients with cerebral ischemia due to atherosclerotic carotid disease were studied. 18FDG uptake with PET was considered and blood samples were taken for determining high sensibility C reactive protein (HsCRP). RESULTS: The mean age of the patients was 66 years; 11 of them were males (73%) and 4 were females (27%). 18FDG PET was positive in 12 patients (80%), while 100% of the studied population had low risk HsCRP with normal white cell count. CONCLUSIONS: 18FDG PET proves active inflammation in carotid atheromatose plaques. There was no significant correlation between the presence of ahteromatose carotid plaques, HsCRP serum levels, and 18FDG PET study.