Search

Aim: To compare diagnostic accuracy of Ventilation/Perfusion (V/P) single-photon emission computed tomography (SPECT) combined with simultaneous full-dose CT with a hybrid SPECT/CT scanner versus planar ventilation/perfusion (V/P) SPECT and CT angiography (CTA) in patients suspected with acute pulmonary embolism (PE)., Methods: Between 2009 and 2011, consecutive patients suspected of acute PE were referred for V/P SPECT/CT (reviewed board approved study). A contrast agent was administered to patients who had no contraindications. Non-contrast V/P SPECT/CT was performed on the remaining patients. All patients were followed-up for at least 3 months., Results: A total of 314 patients were available during the study period, with the diagnosis of PE confirmed in 70 (22.29%) of them. The overall population sensitivity and specificity was 90.91% and 92.44%, respectively for V/P SPECT, 80% and 99.15%, respectively, for CTA, and 95.52% and 97.08% for V/P SPECT/CT. SPECT/CT performed better than V/P SPECT (AUC differences=0.0419, P=0.0043, 95% CI; 0.0131-0.0706) and CTA (AUC differences=0.0681, P=0.0208, 95% CI; 0.0103-0.1259)). Comparing imaging modalities when contrast agent could be administered, sensitivity and specificity increased and V/P SPECT/CT was significantly better than CTA (AUC differences=0.0681, P=0.0208, 95% CI; 0.0103-0.1259) and V/P SPECT (AUC differences=0.0659, P=0.0052, 95% CI; 0.0197-0.1121). In case of non-contrast enhancement, there was non-significant increase of specificity. Secondary findings on CT impacted patient management in 14.65% of cases., Conclusion: Our study shows that combined V/P SPECT/CT scanning has a higher diagnostic accuracy for detecting acute PE than V/P SPECT and CTA alone. When feasible, V/P SPECT/CT with contrast enhancement is the best option., (Copyright © 2016. Publicado por Elsevier España, S.L.U.)

Introduction: The study of mental retardation is one of the most complex fields in human genetics due to its high degree of clinical and genetic heterogeneity. About 50% of cases of mental retardation remain undiagnosed. It is known that about 6-10% of cases are due to subtelomeric rearrangements. Some of these are responsible for a clinically recognized phenotype, i.e. 1p36 or 22q13.33 microdeletion syndromes, but others affect few patients and are not well characterized., Patients and Methods: We have analyzed 300 consecutive mentally retarded patients for subtelomeric rearrangements by MLPA., Results: About 5.3% of patients presented subtelomeric rearrangements; from these, 75% contained de novo rearrangements and 18.7% included inherited aberrations from a healthy parent. In 14 cases, aberrations were likely related to disease and in two cases were putative polymorphisms., Conclusions: This study confirms the high frequency of subtelomeric rearrangements in mental retardation and reinforces the idea of a routine subtelomeric screening in these patients in order to get a correct diagnosis, establish genotype-phenotype correlations and offer an accurate genetic counseling.

Introduction: Mutations of the gene that code bone morphogenic protein type 2 receptor (BMPR2) are involved in the pathogenesis of pulmonary arterial hypertension (PAH), both in its familial (FPAH) and its idiopathic (IPAH) forms., Method: With the aim of increasing the knowledge of these genetic factors in our area, the BMPR2 gene was studied in 17 patients with PAH, 8 with FPAH and 9 with sporadic IPAH. Additionally, a study was made to see whether the presence of BMPR2 mutations was associated with changes in the CO diffusing CO (DL(CO)) with the aim of evaluating the interest in this measurement in the pre-clinical diagnosis., Results: R491Q y R211X mutations were detected in 2 patients with FPAH (prevalence, 25%), and the R332X mutation in one case of IPAH (prevalence, 11%). The familial study of the patient with the R491Q mutation, 14 of the 28 subjects studied had the mutation, and 4 had the diseases (penetration, 36%). A decrease in the DL(CO)/alveolar volume (K(CO)) ratio was observed in asymptomatic family members who expressed the mutation, compared to those who did not express it (88+/-5% and 104+/-9% of the reference value, respectively; P<0.01)., Conclusion: We conclude that the frequency of mutations in the BMPR2 gene in the patients studied with FPAH is lower than was previously described. The decrease in the K(CO) observed in asymptomatic carriers of the mutation suggests a certain level of pulmonary vascular changes, therefore its measurement could be useful in the familial study of FPAH., (Copyright 2009 SEPAR. Published by Elsevier Espana. All rights reserved.)

Background and Objectives: It has been estimated that 1:1233 males and 1:411 females are FMR1 premutated carriers. This gene is responsible for the fragile X syndrome., Patients and Method: Among 398 fragile X syndrome families, we evaluated 112 premutated carriers older than 50 year., Results: FXTAS penetrance among fragile X families was 10.7% for female premutated carriers and 29.7% for male premutated carriers. In the general population, it was estimated that 1:4,000 females and 1:5,000 males will develop the FXTAS syndrome., Conclusions: Besides the risk for fragile X syndrome, the genetic counseling in premutation carriers should mention the risk for FXTAS. This syndrome should also be taken into account among spinocerebelar ataxia patients with an unknown etiology.

Objective: To evaluate the results for sentinel node biopsy (SNB) in patients with multifocal breast cancer (MBC) in comparison to in those with unifocal breast cancer (UBC)., Patients and Methods: A total of 1535 prospective SNB (174 on patients with MBC) were performed at 9 hospitals. In most patients, Tc-99m albumin colloids were injected intraparenchymally into each tumoral focus for SNB., Results: The overall identification rate was 93.8%; no differences between groups were observed (94.8% in MBC vs 93.4% in UBC). The mean number of sentinel nodes detected was 1.46, being higher in the MBC group than in the UBC group (1.58 vs 1.45; p=0.036). Extra-axillary sentinel nodes were found in 19.6%; extra-axillary sentinel nodes were more common in the MBC group (23.4% vs 18.9%, ns) and in the internal mammary chain and in level III axillary lymph nodes. The incidence of sentinel node metastasis was 27.3% (29.1% MBC vs 26.7% UBC, ns), and the mean number of positive sentinel nodes was 0.42 in the MBC group vs 0.32 in the UBC group (p=ns). Axillary dissection identified the same rate of positive additional nodes (29.7%) in both groups., Conclusions: The diagnostic yield of SNB seems similar in MBC and UBC. In MBC, there appears to be a specific pattern of lymphatic drainage, with a higher number of sentinel nodes detected and probably a higher number of extra-axillary sentinel nodes.

Background and Objective: Parkinsonism is a group of neurological disorders characterized by extrapiramidal signs. Often, the differential diagnosis between parkinsonism, essential tremor and drug-induced parkinsonism is difficult. The aim of the study was to evaluate the utility of (123I)-FP-CIT SPECT in patients with movement disorders., Patients and Method: 52 patients were referred from the neurology department to characterize those with parkinsonism. Patients were clinically evaluated and those with Parkinson's disease were assessed using the rating scale Hoehn & Yahr and the UPDRS motor score. Subsequently, a (123I)-FP-CIT SPECT was performed with a qualitative analysis., Results: All patients with essential tremor and drug-induced parkinsonism had a normal SPECT. All patients with parkinsonism displayed SPECT defects, except for four who had a normal SPECT result. Two of them were categorized as vascular parkinsonisms, one patient had a Shy-Drager's syndrome and the another one had probably a Parkinson's disease. The sensitivity and specificity were 90.47% (38/42; CI95%, 81.59%-99.35%) and 100% (10/10; CI95%, 69.15%-100%), respectively., Conclusions: (123I)-FP-CIT SPECT is an effective tool to study the integrity of the dopaminergic nigrostriatal system. Moreover, it permits to characterize the different types of parkinsonism.

Although it is generally accepted that women who are carriers of the premutation of the fragile X syndrome (FXS) show no pathological clinical features, several studies have shown that they have a higher incidence of premature failure of their ovaries (early menopause) than the general population. However, when women who are carriers of the complete mutation are studied, no relation is seen between the two conditions. All women who are carriers of the premutation of the FMR1 gene should be informed that they have a greater possibility than the general population (10-15 times) of having an early menopause. Pre-implantation genetic diagnosis (PGD) is a technique used in diagnosis, based on genetic analysis of an embryo obtained by in vitro fertilization (IVF) and subsequently transferred to genetically healthy viable embryos. Preconception genetic diagnosis is based on the genetic study of an ovule before fertilization and subsequent IVF of healthy ovules. The methodology is similar in both cases. Genetic study of FXS is especially difficult because of the large number of CGG repetitions in affected. Often indirect diagnosis has to be made. Both diagnoses have a series of evident advantages over prenatal diagnosis. There is no pregnancy present so the stress and emotional trauma of VIP (voluntary interruption of pregnancy) is avoided. However, it should be pointed out that there are technical drawbacks regarding genetic analysis and the need to resort to IVF in fertile couples.

Introduction: PKU is an autosomal recessive disorder. There is a broad spectrum phenotype which depends mainly on residual enzymatic activity and also on other factors such as modifying genes and non-genetic factors. This fact makes us consider that a multidisciplinary study of these patients is necessary to improve knowledge of the condition., Objective: To establish phenotype-genotype correlation and classify nine new mutations according to severity., Patients and Methods: We evaluated the clinical data obtained from a multidisciplinary trial of 11 patients with PKU/HPA who presented with nine new mutations (P275S, P279fsdelC, V388delTG, N61/I62/T63fsdel5bp, P281S, P362T, H1OOR, I164V and Y168H) identified during a molecular study of the PAH gene done in Catalonia (Spain)., Results and Conclusion: In our patients the genotype is correlated with the biochemical phenotype whereas the cognitive phenotype depends on determining factors such as early diagnosis and diet. Therefore, although PKU may be considered to be a complex characteristic, the mutations in the PAH gene are the main determining factor of the metabolic phenotype of PKU. A multidisciplinary study is the best way to understand and control these patients.

Background: Williams-Beuren syndrome is a developmental disorder affecting vascular and connective tissues and central nervous system. The syndrome is caused by a submicroscopic deletion in the chromosome 7 implicating the 7q11.23 region. Fluorescence in situ hybridization (FISH) and molecular studies allow us to confirm the clinical suspicion of this syndrome., Patients and Methods: We report clinical evaluation, FISH using Elastin Williams/D7S427 probe and molecular study with markers: D7S672, D7S653, D7S489B, D7S2476, D7S1870 and D7S489A, in 80 patients referred to test for Williams-Beuren syndrome., Results: We found hemizygosity for the critical region in 36 patients. From 69 cases studied by FISH, 28 showed the deletion. Molecular studies in 78 cases showed loss of heterozygosity (LOH) in 26 patients. The patients presented the deletion from the paternal or maternal chromosome at equal frequency. Clinical evaluation of mental retardation, facial features, esotopia dental, malocclusion, hoarse voice, supravalvular aortic stenosis (SVAS), hernias, join limitation, WBS personality and mental retardation from positive and negative patients showed estatistical significant differences for all items except mental retardation and joint limitation. The most significant item was the presence of SVAS., Conclusion: This study confirms the usefulness of genetic studies as a diagnostic tool for William-Beuren Syndrome.

Background: Huntington's disease (HD) is a neurodegenerative disorder with late age of onset, caused by (CAG), expansion in the IT15 gene. We present here the results of IT15 gene study in Spanish families in order to show the usefulness of diagnosis, genetic counseling and clinical-genetic correlation in Spanish population., Patients and Methods: We have studied the number of (CAG)n repeats in the IT15 gene by PCR analysis in 137 individuals from 79 Spanish families with HD., Results: The number of (CAG)n repeats in HD chromosomes varied from 35 to 85, while the range for the normal chromosomes was from 13 to 31. In four juvenile cases the number of (CAG)n repeats was above 50. In three of these cases the transmission was paternal. The (CAG)n expansion was demonstrated in 98.3% of the cases. We established the diagnosis in 15 uncertain clinical diagnosis. We made a presymptomatic diagnosis after psychological-psychiatric evaluation in 50 HD at risk individuals. We showed an inverse correlation between the number of (CAG)n repeats and the age at onset of the disease., Conclusions: The (CAG)n repeats study in the IT15 gene in Spanish populations allows the confirmation of diagnosis of HD as well as presymptomatic testing enabling the genetic counseling. There is an inverse correlation between the age of onset of the disease and the number of (CAG)n repeats in the IT15 gene.