Rendimiento diagnóstico de la secuenciación de genes de hipercolesterolemia familiar en sujetos con hipercolesterolemia primaria

Introduction and objectivesOur objective was to approximate the prevalence of mutations in candidate genes for familial hypercholesterolemia (FH) in a middle-aged Spanish population and to establish the predictive value of criteria for clinical suspicion in the detection of causative mutations.MethodsUnrelated individuals aged ≥ 18 years from the Aragon Workers’ Health Study (AWHS) with high low-density lipoprotein cholesterol (LDL-C) and clinical suspicion of FH (participants with LDL-C concentrations above the 95th percentile, participants with premature cardiovascular disease and/or participants with high LDL-C [130 mg/dL] under statin therapy), assuming that any participant with FH exhibits at leats 1 trait, were selected and the LDLR, APOB, PCSK9, APOE, STAP1 and LDLRAP1 genes were sequenced by next generation sequencing technology.ResultsOf 5400 individuals from the AWHS, 4514 had complete data on lipid levels and lipid-lowering drugs, 255 participants (5.65%) met the criteria for suspicion of FH, 24 of them (9.41%) were diagnosed with hyperlipoproteinemia(a), and 16 (6.27% of those sequenced) were found to carry causative mutations in candidate genes: 12 participants carried 11 different pathogenic LDLR alleles and 4 participants carried 1 pathogenic mutation in PCSK9. LDL-C concentrations > 220 mg/dL and LDL-C > 130 mg/dL despite statin therapy showed the strongest association with the presence of mutations (P = .011).ConclusionsOur results show that the prevalence of FH in Spain is 1:282 and suggest that the combination of high untreated LDL-C and high levels of LDL-C despite statin therapy are the best predictors of a positive FH genetic test.     

Determination of the HER2 amplification status by in situ fluorescent hybridization and concordance with immunohistochemistry for breast cancer samples in Colombia

Objectives:

To determine the status of the HER2 amplification in Breast cancer performed in peripheral laboratories in Colombia by immunohistochemistry and its comparison with central laboratories and the FISH status.

Methods:

Four thousand one hundred and five cases referred for the determination of the HER2 status by FISH and/or IHQ to the Department of Pathology of the Fundacion Santa Fe were studied. The analysis included correlation between the IHQ HER2 score submitted by the peripheral laboratory (PL), the HER2 score emitted in the CL and the FISH studies performed in the central laboratory (CL).

Results:

Two thousand five hundred and eight HER2 IHQ studies were performed in the (CL), using the Dako Herceptest. With the following results: 68.2 % negative (0-1+); 16,4% indeterminate (2+); 15.3% 3+ and 2.3 % not adequate. 1360/ 1719 cases studied by FISH came from the (PL), and 329 (19.1%) from the (CL). Comparing the IHQ score emitted by the PL and the positive FISH status showed: 6/28 0+ were positive (21. 4%); 7/31 1+ (22. 5%); 397/1240 2+ (32.8%) and 74/91 3+ (81. 3%). In the CL the results were 1/9 0+ (11.1%); 3/18 1+ (16.7%); 154/292 2+ (53%); and 9/9 3+ (100%). Only 1/4 negative cases (0/1+) was in house.

Conclusion:

The false negative rate (22%), and false positive results (18.7%), of the HER2 status performed by IHQ in peripheral laboratories in Colombia is unacceptable high as well as the inadequacy of tissue indicating that pre-analytical factors have to be improved in Colombia in order to get optimal results.     

RECall for Automated Genotypic Tropism Testing

Standardization of sequence chromatogram analysis is required for consistent genotypic tropism determination across laboratories. A freely available, fast, and automated chromatogram analysis tool (RECall) provided tropism interpretations equivalent to those of manual sequence editing of 521 V3 loop HIV-1 population sequences, suggesting that RECall can be useful in standardizing genotypic tropism testing across laboratories.     

Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders

Journal of Autism and Developmental Disorders - The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and...     

Descriptive study of the patients treated at the clinic “Integrated Dentistry for Patients with Special Needs” at Complutense University of Madrid (2003-2012)

Objectives: To study clinical and epidemiological characteristics of the patients treated at the clinic “Integrated Dentistry for Patients with Special Needs (Special Care Dentistry)” at Complutense University of Madrid (UCM), as well as to know the dental treatments performed in these patients and the modifications from the usual treatment protocol. The information obtained from the results could also be applied in order to assess the needs of dental students education about this type of patients. Study Design: Medical records review of all the patients referred to the clinic of “Integrated Dentistry for Patients with Special Needs”, performing a retrospective cross-sectional study analyzing their main pathology, ASA risk score (Classification system used by the American Society of Anesthesiologists to estimate the risk posed by the anesthesia for various patient conditions), pharmacological treatment, what kind of dental treatment was necessary, whether the patient was treated or not, and if it was required to change any procedure due to the patient health status (sedation or antibiotic prophylaxis). Results: The number of patients referred to the clinic was 447, of whom 426 were included in this study. Out of them, 52,35 % were men and 47,89 were women, with a mean age of 49,20 years. More frequent pathologies were cardiovascular or cerebrovascular diseases (24,29 %), infectious diseases (12,41%), endocrine diseases (11,66%) and intellectual disability (8,85%). 70’18% of the patients were treated, with sedation being necessary in 9,03% of the cases and antibiotic prophylaxis in 11,70%. Conclusions: Given the high number of patients with some kind of pathology and the amount of medicines that they use, it seems necessary for dentistry students to have a specific training regarding how to handle and treat these patients, so they will be able to provide them the best possible care. Key words:Patients with special needs, medically compromised patients, dental treatment, special care dentistry.