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42. Quantitative-fluorescent-PCR versus full karyotyping in prenatal diagnosis of common chromosome aneuploidies in southern Spain

Author

de Haro-Muñoz T, Jose Antonio Gómez-Capilla, Padilla-Vinuesa Mc, Carolina Gomez-Llorente, Mercedes Zafra-Ceres, García Fs, and de la Paz-Gallardo Mj

Subjects
Adult, medicine.medical_specialty, Amniotic fluid, Adolescent, Clinical Biochemistry, Aneuploidy, Prenatal diagnosis, Polymerase Chain Reaction, Young Adult, Pregnancy, Prenatal Diagnosis, Humans, Medicine, Increased nuchal translucency, Genetics, business.industry, Obstetrics, Biochemistry (medical), Ultrasound, Chromosome, Karyotype, General Medicine, Middle Aged, medicine.disease, Spain, Karyotyping, Female, business
Abstract

Quantitative-fluorescent polymerase chain reaction (QF-PCR) is a reliable, rapid, and economic technique for prenatal diagnosis of the most common abnormalities. However, conventional karyotyping is expensive and requires a much longer time to yield results. It is currently under debate whether the replacement or restriction of karyotyping reduces the quality of prenatal test results. This study was undertaken to determine the percentage of clinically significant chromosomal abnormalities that would not be detected if QF-PCR was the main analysis method and karyotyping reserved for cases with increased nuchal translucency (NT) and/or abnormal ultrasound findings and to estimate the difference in cost between QF-PCR and full karyotyping.Nine hundred twenty-eight pregnant women underwent an invasive procedure at our center between May 2009 and December 2012, yielding 580 (62.5%) chorionic villous samples and 348 (37.5%) amniotic fluid samples. Samples were studied by both QF-PCR and full karyotyping. Karyotyping and detailed ultrasound findings were retrospectively analyzed.If QF-PCR was the main analytic method and full karyotyping reserved for cases with elevated NT (≥4.5) and/or abnormal ultrasound findings, 12.7% of the patients would have required full karyotyping, 99% of the clinically significant chromosomal abnormalities would have been detected, and the cost would have been 54% lower than a policy of full karyotyping for all.Detailed prenatal ultrasound scan can reduce the need for conventional karyotyping as a complement to QF-PCR in most prenatal samples, offering rapid results and reducing parental anxiety and healthcare costs.

Published
2015

44. Jacalin, another marker for histiocytes in paraffin-embedded tissues

Author

Urdiales Viedma, M., De Haro Muñoz, T., Martos Padilla, S., Abad Ortega, J.M., Varela Durán, J., and Granda Paez, R.

Subjects
Macrophages, 6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología [CDU], Histiocytes
Abstract

Jacalin is a lectin which reacts with Dgalactose. We have tested jacalin on 75 samples of different formalin- and alcohol-fixed tissues. A consistent cytoplasmic stain of the histiocytes was observed in paraffin-embedded tissues in al1 cases studied of reactive sinus histiocytosis, macrophages in clear centres of follicular hyperplasia, in tuberculosis granulomas and in osteoclast-like giant cells in a breast carcinoma. We failed to find any clear binding of jacalin to the cells of eosinophilic granulomas, giant cell tumors of tendon sheath, pleomorphic malignant fibrous histiocytomas, Hodgkin's disease, melanomas, nevi or signet ring cell carcinomas of the breast and stomach. It seems that jacalin is a good marker for free histiocytesl macrophages, not for fixed histiocytes and tumors related to them. This lectin might play a role in differential diagnosis with histiocyte mimicking processes.

Published
1995

45. Metabolic-mineral study in patients with renal calcium lithiasis, severe lithogenic activity and loss of bone mineral density.

Author

Arrabal-Polo MA, Arrabal-Martin M, Arias-Santiago S, Garrido-Gomez J, De Haro-Muñoz T, Zuluaga-Gomez A, Arrabal-Polo, Miguel Angel, Arrabal-Martin, Miguel, Arias-Santiago, Salvador, Garrido-Gomez, Juan, De Haro-Muñoz, Tomas De, and Zuluaga-Gomez, Armando

Abstract

Introduction: This study assessed the presence of osteoporosis/osteopenia in patients with severe lithogenic activity and compared their metabolisms with those in patients without lithiasis or with mild lithogenic activity. Methods: From a sample of 182 patients, those with osteopenia/osteoporosis at the hip and lumbar spine were studied separately in a two-pronged study. 66 patients with bone mineral densities (BMDs) < -1 standard deviation (SD) on a T-score scale at the hip were divided into three groups: group A1 without lithiasis (n = 15); group A2 with lithiasis and mild lithogenic activity (n = 22); and group A3 with lithiasis and severe lithogenic activity (n = 29). Similarly, 86 patients with BMDs < -1 SD on a T-score scale at the lumbar spine were divided into three groups: group B1 without lithiasis (n = 15); group B2 with lithiasis and mild lithogenic activity (n = 29); and group B3 with lithiasis and severe lithogenic activity (n = 42). Results: Patients from group A3 exhibited significantly higher levels of bone remodelling markers as compared to groups A1 and A2. Urinalysis also revealed higher excretion of calcium in 24-hour assessments in this group. Patients from group B3 differed from groups B1 and B2 mainly in bone remodelling markers and 24-hour urinary calcium excretion, which were significantly elevated in patients from group B3. Conclusion: Patients with calcium lithiasis and severe lithogenic activity in addition to osteopenia/osteoporosis present with higher levels of hypercalciuria and negative osseous balance, which possibly perpetuate and favour lithiasic activity. [ABSTRACT FROM AUTHOR]

Published
2012

49. Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases.

Author

González-Cejudo T, Villa-Suárez JM, Ferrer-Millán M, Andújar-Vera F, Contreras-Bolívar V, Andreo-López MC, Gómez-Vida JM, Martínez-Heredia L, González-Salvatierra S, de Haro Muñoz T, García-Fontana C, Muñoz-Torres M, and García-Fontana B

Subjects
Humans, Alkaline Phosphatase, Genetic Testing, Mutation, Hypophosphatasia diagnosis, Hypophosphatasia epidemiology, Hypophosphatasia complications, Autoimmune Diseases
Abstract

Objectives: Since the prevalence of hypophosphatasia (HPP), a rare genetic disease, seems to be underestimated in clinical practice, in this study, a new diagnostic algorithm to identify missed cases of HPP was developed and implemented., Methods: Analytical determinations recorded in the Clinical Analysis Unit of the Hospital Universitario Clínico San Cecilio in the period June 2018 - December 2020 were reviewed. A new clinical algorithm to detect HPP-misdiagnosed cases was used including the following steps: confirmation of persistent hypophosphatasemia, exclusion of secondary causes of hypophosphatasemia, determination of serum pyridoxal-5'-phosphate (PLP) and genetic study of ALPL gene., Results: Twenty-four subjects were selected to participate in the study and genetic testing was carried out in 20 of them following clinical algorithm criteria. Eighty percent of patients was misdiagnosed with HPP following the current standard clinical practice. Extrapolating these results to the current Spanish population means that there could be up to 27,177 cases of undiagnosed HPP in Spain. In addition, we found a substantial proportion of HPP patients affected by other comorbidities, such as autoimmune diseases (∼40 %)., Conclusions: This new algorithm was effective in detecting previously undiagnosed cases of HPP, which appears to be twice as prevalent as previously estimated for the European population. In the near future, our algorithm could be globally applied routinely in clinical practice to minimize the underdiagnosis of HPP. Additionally, some relevant findings, such as the high prevalence of autoimmune diseases in HPP-affected patients, should be investigated to better characterize this disorder., (© 2023 the author(s), published by De Gruyter, Berlin/Boston.)

Published
2023
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50. Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.

Author

Molina-Zayas M, Garrido-Navas C, García-Puche JL, Barwell J, Pedrinaci S, Atienza MM, García-Linares S, de Haro-Muñoz T, Lorente JA, Serrano MJ, and Poyatos-Andújar A

Subjects
DNA-Binding Proteins genetics, Female, Genetic Predisposition to Disease, Humans, Mastectomy, Retrospective Studies, Spain, Breast Neoplasms diagnosis, Breast Neoplasms epidemiology, Breast Neoplasms genetics, Germ-Line Mutation genetics, Ovarian Neoplasms epidemiology, Ovarian Neoplasms genetics
Abstract

The aim of this study was to assess the prevalence of germline variants in cancer-predisposing genes by either targeted (BRCA1/2) or multigene NGS panel in a high-risk Hereditary Breast and Ovarian Cancer (HBOC) cohort. Samples from 824 Caucasian probands were retrospectively collected and the impact of genetic diagnosis and genetic variants epidemiology in this cohort was evaluated. Performance of risk-reducing prophylactic measures, such as prophylactic mastectomy and/or prophylactic oophorectomy, was assessed through clinical follow-up of patients with a positive genetic result. Pathogenic variants predisposing to HBOC were identified in 11.9% (98/824) individuals at BRCA2 (47/98), BRCA1 (24/98), PALB2 (8/51), ATM (7/51), CHEK2 (6/51) MSH6, (2/51), RAD51C (2/51) and TP53 (2/386). Of them, 11 novel pathogenic variants and 12 VUS were identified, characterized, and submitted to ClinVar. Regarding clinical impact, the risk of developing basal or Her2 breast cancer was increased 15.7 times or 37.5 times for BRCA1 and MSH6 pathogenic variants respectively. On the contrary, the risk of developing basal or luminal A breast cancer was reduced to 81% or 77% for BRCA2 and BRCA1 pathogenic variants, respectively. Finally, 53.2% of individuals testing positive for class IV/V variants underwent prophylactic surgery (mastectomy, oophorectomy or both) being significantly younger at the cancer diagnosis than those undertaking prophylactic measures (p = 0.008). Of them, 8 carried a pathogenic/likely pathogenic variant in other genes different from BRCA1 and BRCA2, and the remaining (46.7%) decided to continue with clinical follow-up. No differences in pathogenicity or risk of developing cancer were found for BRCA1/2 between targeted and multigene sequencing strategies; however, NGS was able to resolve a greater proportion of high-risk patients., (© 2022. The Author(s).)

Published
2022
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