Publications by authors named "Fabiana Ramos"

16 Publications

  • Page 1 of 1

Helping Couples Connect during the COVID-19 Pandemic: A Pilot Randomised Controlled Trial of an Awareness, Courage, and Love Intervention.

Appl Psychol Health Well Being 2020 12 11;12(4):1140-1156. Epub 2020 Oct 11.

University of Washington, USA.

Background: A second pandemic of mental health problems due to COVID-19 is predicted, suggesting a demand for interventions to mitigate its impacts. This study evaluated the effectiveness of an online psychological intervention based on the Awareness, Courage, and Love (ACL) model from Functional Analytic Psychotherapy to promote closeness between couples during the pandemic.

Method: Thirty-one couples were randomised into either the intervention or control group for a 2-hour online group session. The intervention was designed to increase closeness between couples, whereas control group members watched a movie. In both groups, participants responded to two instruments that assessed the couple's relationship. Generalised linear mixed modeling was used to compare the change scores over time between the groups, with random effects used to control for the correlation within a couple and the correlation within the individual.

Results: The intervention group's closeness increased by 23 per cent while the control group's closeness increased only 2 per cent. A week later, a significant difference between the two groups emerged on closeness.

Conclusion: Online ACL protocols requiring minimal training offer a promising intervention to quickly buffer against stress for large numbers of individuals during pandemic times.
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http://dx.doi.org/10.1111/aphw.12241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7675586PMC
December 2020

Aspects that influence the self-care of patients living with human immunodeficiency virus.

Rev Lat Am Enfermagem 2019 Mar 18;27:e3112. Epub 2019 Mar 18.

Universidade de São Paulo, Escola de Enfermagem, São Paulo, SP, Brazil.

Objective: to analyze aspects related to the increase or decrease of self-care in patients living with human immunodeficiency virus treated in a specialized outpatient service.

Method: analytical cross-sectional study with 135 patients aged 18 and over, of both sexes, who are followed up on the service. The independent variables and outcomes were collected from the nursing consultation instrument, whose theoretical reference is the Orem's Theory. The data were analyzed by parametric approach. Relationships or differences were considered significant if p <0.05. The analysis was done with SPSS v21.0 software.

Results: most participants were male (56.3%), with a mean age of 42.1 years. Patients who needed to conceal the diagnosis had less self-care (β = -0.72 (-1.38, -0.06), p <0.031). The chance of performing self-care decreased with increasing age (OR = 0.93 (0.89, 0.97), p <0.003). On the other hand, patients with a permanent partner had a higher chance of performing self-care (OR = 3.46 (1.27, 9.46), p <0.015).

Conclusion: aspects related to the increase or decrease of self-care in patients living with human immunodeficiency virus were evidenced. However, further studies are necessary to emphasize the analytical character of the self-care of these patients.
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http://dx.doi.org/10.1590/1518-8345.2746.3112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6432987PMC
March 2019

X-linked chronic granulomatous disease in a female carrier with novel pathogenic mutation and skewed X-inactivation.

Ann Allergy Asthma Immunol 2018 03;120(3):328-329

Consulta de Imunodeficiências Primárias, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.anai.2017.12.006DOI Listing
March 2018

Why could a woman have three Trisomy 21 pregnancies? - a case report.

Clin Case Rep 2017 08 15;5(8):1222-1225. Epub 2017 Jun 15.

Department of Obstetrics and Gynecology A Centro Hospitalar e Universitário de Coimbra Coimbra Portugal.

Mosaicism, an important cause for recurrent T21, should be suspected in families with more than one affected child wishing to receive prenatal counseling. Fluorescence in-situ hybridization analysis in a large number of cells and in different tissue samples is critical for detecting low-level mosaicism and is a key prognostic factor.
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http://dx.doi.org/10.1002/ccr3.997DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538204PMC
August 2017

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

J Mol Diagn 2017 07 18;19(4):502-513. Epub 2017 May 18.

Cancer Genetics Group, Portuguese Oncology Institute of Porto Research Center (CI-IPOP), Portuguese Oncology Institute of Porto, Porto, Portugal; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal; Biomedical Sciences Institute, University of Porto, Porto, Portugal. Electronic address:

Despite the growing knowledge of the genetic background behind the cancers that occur in a context of hereditary predisposition, personal or family cancer history may not be clear enough to support directional gene testing. Defined targeted next-generation sequencing gene panels allow identification of the causative disease mutations of multigene syndromes and differential diagnosis for syndromes with phenotypically overlapping characteristics. Herein, we established a next-generation sequencing analysis pipeline for the molecular diagnosis of multiple inherited cancer predisposing syndromes using the commercially available target sequencing panel TruSight Cancer. To establish the analysis pipeline, we included 22 control samples with deleterious mutations covering all genes currently analyzed at our institution by standard Sanger sequencing. We tested the pipeline using 51 samples from patients with a clinical diagnosis of neurofibromatosis type 1 (NF1), 10 of which without previous molecular characterization of the causative NF1 mutations. We propose a thoroughly validated analysis pipeline that combines Isaac Enrichment, Burrows-Wheeler Aligner Enrichment, and NextGENe for the alignment and variant calling, and GeneticistAssistant for variant annotation and prioritization. This pipeline allowed the identification of disease-causing mutations in all 73 patients, including a large duplication of 37 bp in NF1. We show that high sensitivity and specificity can be achieved by using multiple bioinformatic tools for alignment and variant calling and careful variant filtering, having in mind the clinical question.
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http://dx.doi.org/10.1016/j.jmoldx.2017.05.001DOI Listing
July 2017

Peripheral Attentional Targets under Covert Attention Lead to Paradoxically Enhanced Alpha Desynchronization in Neurofibromatosis Type 1.

PLoS One 2016 16;11(2):e0148600. Epub 2016 Feb 16.

ICNAS - Brain Imaging Network of Portugal, Coimbra, Portugal.

The limited capacity of the human brain to process the full extent of visual information reaching the visual cortex requires the recruitment of mechanisms of information selection through attention. Neurofibromatosis type-1 (NF1) is a neurodevelopmental disease often exhibiting attentional deficits and learning disabilities, and is considered to model similar impairments common in other neurodevelopmental disorders such as autism. In a previous study, we found that patients with NF1 are more prone to miss targets under overt attention conditions. This finding was interpreted as a result of increased occipito-parietal alpha oscillations. In the present study, we used electroencephalography (EEG) to study alpha power modulations and the performance of patients with NF1 in a covert attention task. Covert attention was required in order to perceive changes (target offset) of a peripherally presented stimulus. Interestingly, alpha oscillations were found to undergo greater desynchronization under this task in the NF1 group compared with control subjects. A similar pattern of desynchronization was found for beta frequencies while no changes in gamma oscillations could be identified. These results are consistent with the notion that different attentional states and task demands generate different patterns of abnormal modulation of alpha oscillatory processes in NF1. Under covert attention conditions and while target offset was reported with relatively high accuracy (over 90% correct responses), excessive desynchronization was found. These findings suggest an abnormal modulation of oscillatory activity and attentional processes in NF1. Given the known role of alpha in modulating attention, we suggest that alpha patterns can show both abnormal increases and decreases that are task and performance dependent, in a way that enhanced alpha desynchronization may reflect a compensatory mechanism to keep performance at normal levels. These results suggest that dysregulation of alpha oscillations may occur in NF1 both in terms of excessive or diminished activation patterns.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0148600PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755663PMC
August 2016

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

Mol Cytogenet 2015 30;8:103. Epub 2015 Dec 30.

Laboratório de Citogenética e Genómica - Faculdade de Medicina, Universidade de Coimbra, Pólo Ciências da Saúde, Sub-Unidade 1 - Piso 2, Azinhaga de Santa Comba, 3000-354 Coimbra, Portugal ; CIMAGO - Centro de Investigação em Meio Ambiente, Genética e Oncobiologia, Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal ; Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal ; CNC, IBILI - Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal.

Background: Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to classify the different copy number variants (CNVs) detected. We clustered our findings into five classes ranging from an imbalance detected in a microdeletion/duplication syndrome region (class I) to imbalances that had previously been reported in normal subjects in the Database of Genomic Variants (DGV) and thus considered common variants (class IV).

Results: All the analyzed 1000 patients had at least one CNV independently of its clinical significance. Most of them, as expected, were alterations already reported in the DGV for normal individuals (class IV) or without known coding genes (class III-B). In approximately 14 % of the patients an imbalance involving known coding genes, but with partially overlapping or low frequency of CNVs described in the DGV was identified (class IIIA). In 10.4 % of the patients a pathogenic CNV that explained the phenotype was identified consisting of: 40 class I imbalances, 44 class II de novo imbalances and 21 class II X-chromosome imbalances in male patients. In 20 % of the patients a familial pathogenic or potentially pathogenic CNV, consisting of inherited class II imbalances, was identified that implied a family evaluation by the clinical geneticists.

Conclusions: As this interpretation can be sometimes difficult, particularly if it is not possible to study the parents, using the proposed classification we were able to prioritize the multiple imbalances that are identified in each patient without immediately having to classify them as pathogenic or benign.
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http://dx.doi.org/10.1186/s13039-015-0202-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696247PMC
December 2015

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Eur J Med Genet 2015 Sep 20;58(9):455-65. Epub 2015 Jul 20.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK. Electronic address:

Introduction: Oculo-auriculo-vertebral spectrum (OAVS OMIM 164210) is a craniofacial developmental disorder affecting the development of the structures derived from the 1st and the 2nd branchial arches during embryogenesis, with consequential maxillary, mandibular, and ear abnormalities. The phenotype in OAVS is variable and associated clinical features can involve the cardiac, renal, skeletal, and central nervous systems. Its aetiology is still poorly understood.

Methods: We have evaluated the clinical phenotypes of 51 previously unpublished patients with OAVS and their parents, and performed comparative genomic hybridization microarray studies to identify potential causative loci.

Results: Of all 51 patients, 16 (31%) had a family history of OAVS. Most had no relevant pre-natal history and only 5 (10%) cases had a history of environmental exposures that have previously been described as risk factors for OAVS. In 28 (55%) cases, the malformations were unilateral. When the involvement was bilateral, it was asymmetric. Ear abnormalities were present in 47 (92%) patients (unilateral in 24; and bilateral in 23). Hearing loss was common (85%), mostly conductive, but also sensorineural, or a combination of both. Hemifacial microsomia was present in 46 (90%) patients (17 also presented facial nerve palsy). Ocular anomalies were present in 15 (29%) patients. Vertebral anomalies were confirmed in 10 (20%) cases; 50% of those had additional heart, brain and/or other organ abnormalities. Brain abnormalities were present in 5 (10%) patients; developmental delay was more common among these patients. Limb abnormalities were found in 6 (12%) patients, and urogenital anomalies in 5 (10%). Array-CGH analysis identified 22q11 dosage anomalies in 10 out of 22 index cases screened.

Discussion: In this study we carried out in-depth phenotyping of OAVS in a large, multicentre cohort. Clinical characteristics are in line with those reported previously, however, we observed a higher incidence of hemifacial microsomia and lower incidence of ocular anomalies. Furthermore our data suggests that OAVS patients with vertebral anomalies or congenital heart defects have a higher frequency of additional brain, limb or other malformations. We had a higher rate of familial cases in our cohort in comparison with previous reports, possibly because these cases were referred preferentially to our genetic clinic where family members underwent examination. We propose that familial OAVS cases show phenotypic variability, hence, affected relatives might have been misclassified in previous reports. Moreover, in view of its phenotypic variability, OAVS is potentially a spectrum of conditions, which overlap with other conditions, such as mandibulofacial dysostosis. Array CGH in our cohort identified recurrent dosage anomalies on 22q11, which may contribute to, or increase the risk of OAVS. We hypothesize that although the 22q11 locus may harbour gene(s) or regulatory elements that play a role in the regulation of craniofacial symmetry and 1st and 2nd branchial arch development, OAVS is a heterogeneous condition and many cases have a multifactorial aetiology or are caused by mutations in as yet unidentified gene(s).
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http://dx.doi.org/10.1016/j.ejmg.2015.07.003DOI Listing
September 2015

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.

Mol Cytogenet 2014 9;7(1):87. Epub 2014 Dec 9.

Cytogenetics and Genomics Laboratory, Faculdade de Medicina da Universidade de Coimbra, Pólo Ciências da Saúde, 3000-548 Coimbra, Portugal ; CIMAGO - Centro de Investigação em Meio Ambiente, Genética e Oncobiologia, Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.

We report a male patient with developmental delay carrying an interstitial 4p16.3 deletion of 287 kb, disclosed by oligo array-CGH and inherited from his father with a similar but milder phenotype. This deletion is distal to the Wolf-Hirschhorn syndrome critical regions, but includes the FGFRL1 gene proposed to be a plausible candidate for part of the craniofacial characteristics of Wolf-Hirschhorn syndrome patients. However, the proband lacks the typical facial appearance of the syndrome, but exhibits overgrowth, dysfunction of temporomandibular articulation and a bicuspid aortic valve. Given the pattern of expression of the fibroblast growth factor receptor-like 1 and its involvement in bone and cartilage formation as well as in heart valve morphogenesis, we discuss the impact of its haploinsufficiency in the phenotype.
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http://dx.doi.org/10.1186/s13039-014-0087-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265458PMC
December 2014

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

Am J Hum Genet 2014 Nov 6;95(5):611-21. Epub 2014 Nov 6.

Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.

Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, cerebellar ataxia, early-onset cerebellar atrophy, sensorineural hearing loss, and the distinctive association of progressively coarsening facial features, relative macrocephaly, and the absence of seizures. We used homozygosity mapping and whole-exome sequencing to identify a homozygous nonsense mutation and an in-frame multiexon deletion in two families. A homozygous splice site mutation was identified by Sanger sequencing of SNX14 in a third family, selected purely by phenotypic similarity. This discovery confirms that these characteristic features represent a distinct and recognizable syndrome. SNX14 encodes a cellular protein containing Phox (PX) and regulator of G protein signaling (RGS) domains. Weighted gene coexpression network analysis predicts that SNX14 is highly coexpressed with genes involved in cellular protein metabolism and vesicle-mediated transport. All three mutations either directly affected the PX domain or diminished SNX14 levels, implicating a loss of normal cellular function. This manifested as increased cytoplasmic vacuolation as observed in cultured fibroblasts. Our findings indicate an essential role for SNX14 in neural development and function, particularly in development and maturation of the cerebellum.
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http://dx.doi.org/10.1016/j.ajhg.2014.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225633PMC
November 2014

Abnormal late visual responses and alpha oscillations in neurofibromatosis type 1: a link to visual and attention deficits.

J Neurodev Disord 2014 Feb 21;6(1). Epub 2014 Feb 21.

Visual Neuroscience Laboratory, Institute for Biomedical Imaging and Life Sciences (IBILI), Faculty of Medicine, University of Coimbra, Azinhaga de Santa Comba, Coimbra 3000-548, Portugal.

Background: Neurofibromatosis type 1 (NF1) affects several areas of cognitive function including visual processing and attention. We investigated the neural mechanisms underlying the visual deficits of children and adolescents with NF1 by studying visual evoked potentials (VEPs) and brain oscillations during visual stimulation and rest periods.

Methods: Electroencephalogram/event-related potential (EEG/ERP) responses were measured during visual processing (NF1 n = 17; controls n = 19) and idle periods with eyes closed and eyes open (NF1 n = 12; controls n = 14). Visual stimulation was chosen to bias activation of the three detection mechanisms: achromatic, red-green and blue-yellow.

Results: We found significant differences between the groups for late chromatic VEPs and a specific enhancement in the amplitude of the parieto-occipital alpha amplitude both during visual stimulation and idle periods. Alpha modulation and the negative influence of alpha oscillations in visual performance were found in both groups.

Conclusions: Our findings suggest abnormal later stages of visual processing and enhanced amplitude of alpha oscillations supporting the existence of deficits in basic sensory processing in NF1. Given the link between alpha oscillations, visual perception and attention, these results indicate a neural mechanism that might underlie the visual sensitivity deficits and increased lapses of attention observed in individuals with NF1.
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http://dx.doi.org/10.1186/1866-1955-6-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944002PMC
February 2014

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.

Am J Med Genet A 2014 Jan;164A(1):10-4

We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity.
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http://dx.doi.org/10.1002/ajmg.a.36235DOI Listing
January 2014

Abnormal brain activation in neurofibromatosis type 1: a link between visual processing and the default mode network.

PLoS One 2012 18;7(6):e38785. Epub 2012 Jun 18.

Visual Neuroscience Laboratory, Institute of Biomedical Research in Light and Image, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

Neurofibromatosis type 1 (NF1) is one of the most common single gene disorders affecting the human nervous system with a high incidence of cognitive deficits, particularly visuospatial. Nevertheless, neurophysiological alterations in low-level visual processing that could be relevant to explain the cognitive phenotype are poorly understood. Here we used functional magnetic resonance imaging (fMRI) to study early cortical visual pathways in children and adults with NF1. We employed two distinct stimulus types differing in contrast and spatial and temporal frequencies to evoke relatively different activation of the magnocellular (M) and parvocellular (P) pathways. Hemodynamic responses were investigated in retinotopically-defined regions V1, V2 and V3 and then over the acquired cortical volume. Relative to matched control subjects, patients with NF1 showed deficient activation of the low-level visual cortex to both stimulus types. Importantly, this finding was observed for children and adults with NF1, indicating that low-level visual processing deficits do not ameliorate with age. Moreover, only during M-biased stimulation patients with NF1 failed to deactivate or even activated anterior and posterior midline regions of the default mode network. The observation that the magnocellular visual pathway is impaired in NF1 in early visual processing and is specifically associated with a deficient deactivation of the default mode network may provide a neural explanation for high-order cognitive deficits present in NF1, particularly visuospatial and attentional. A link between magnocellular and default mode network processing may generalize to neuropsychiatric disorders where such deficits have been separately identified.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0038785PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377684PMC
December 2012

Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.

Invest Ophthalmol Vis Sci 2012 Jan 25;53(1):287-93. Epub 2012 Jan 25.

Visual Neuroscience Laboratory, Institute of Biomedical Research in Light and Image, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

Purpose: Neurofibromatosis type 1 (NF1) is a monogenic disorder with the majority of patients presenting subtle to moderate cognitive impairments. Visuospatial deficits are considered to be one of the hallmark characteristics of their cognitive profile. However, low-level visual processing has not been previously investigated. Our aim was to study contrast perception in these patients to assess the function of early visual areas.

Methods: Contrast sensitivity was tested in 19 children and adolescents with NF1 and 33 control children and adolescents and 12 adults with NF1 and 24 control adults. The tasks used probed two achromatic spatiotemporal frequency channels and chromatic red-green and blue-yellow pathways.

Results: Individuals with NF1 showed significant contrast sensitivity deficits for the achromatic higher spatial frequency channel [F(₁,₈₃) = 36.1, P < 0.001] and for the achromatic low spatial high temporal (magnocellular) frequency channel [F(₁,₇₂) = 8.0, P < 0.01]. Furthermore, individuals with NF1 presented a significant deficit in chromatic red-green (parvocellular) contrast sensitivity (P < 0.01) but not in blue-yellow (koniocelular) sensitivity. The decrease in achromatic sensitivity for higher spatial frequency was observed throughout the visual field, in both central and peripheral locations. In contrast, central contrast sensitivity for the magnocellular-biased condition was relatively preserved and only peripheral sensitivity was affected. Interestingly, the same pattern of deficits was found in both age groups tested.

Conclusions: These findings showed that contrast sensitivity is impaired in patients with NF1, associating for the first time abnormal low-level vision to the cognitive profile of this disorder.
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http://dx.doi.org/10.1167/iovs.11-8225DOI Listing
January 2012

Accuracy of prenatal diagnosis in elective termination of pregnancy: 385 cases from 2000 to 2007.

ISRN Obstet Gynecol 2011 8;2011:458120. Epub 2010 Nov 8.

Serviço de Genética Médica, Centro Hospitalar de Coimbra, Avenida Bissaya Barreto, 3000-076 Coimbra, Portugal.

Objective. To evaluate the quality of prenatal results in all cases of termination of pregnancy (TOP) due to fetal abnormalities in a tertiary prenatal diagnosis center. Material and Methods. Retrospective analysis of the 385 TOP performed on our department due to fetal abnormalities between January 1, 2000, and December 31, 2007. We compared all data for agreement between the ultrasound, genetic, and postmortem findings, regarding the abnormalities identified in the etiological diagnosis and its prognosis. Results. Chromosome abnormalities were the most common indication for TOP (39%), followed by abnormalities of CNS (20%), monogenic disorders (11%), sequences (9.6%), polimalformative syndromes (5.2%), and isolated congenital heart diseases (4%). Total agreement was 21%. Further abnormalities were identified in 79%. The data collected after TOP changed the etiologic diagnosis in 21% but the prognosis was changed in only one fetus. Discussion. This study corroborates the necessity of a multidisciplinary team in prenatal diagnosis centers. Their work remarkably improves the genetic counseling and represents an important aspect in quality control of the information given to a couple previously to a TOP.
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http://dx.doi.org/10.5402/2011/458120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102519PMC
July 2011

Gastric emptying before and after cholecystectomy in patients with cholecystolithiasis.

Hepatogastroenterology 2008 May-Jun;55(84):850-4

Alfa Institute of Gastroenterology, University Hospital, Faculty of Medicine Federal University of Minas Gerais, Belo Horizonte, Brazil.

Background/aims: The objective of the present study was to measure gastric emptying time of solids and semisolids in dyspeptic individuals with cholecystolithiasis before and 6 months after cholecystectomy in order to determine whether cholecystectomy interferes with gastric emptying.

Methodology: A prospective, self-pairing study was conducted on 29 patients selected according to appropriate inclusion and exclusion criteria. Gastric emptying time of solids and semisolids was determined before and six months after laparoscopic cholecystectomy by the 13C-octanoic acid and 13C-acetate breath tests, respectively. The samples were analyzed by infrared spectrometry. The gastric retention time (lag phase) and gastric emptying half-time of solid and semisolid were determined and the results obtained before and after surgery were compared in the same patient. In addition, the effects of surgery on dyspeptic symptoms were assessed.

Results: No significant differences (p>0.05) in gastric retention time and gastric emptying half-time of solid and semisolid test meals were observed before and after cholecystectomy. Dyspeptic symptoms (pain, upper abdominal gases, early satiety, nausea and vomiting) improved after surgery.

Conclusions: Laparoscopic cholecystectomy does not interfere with the gastric emptying time of solids or semisolids in dyspeptic individuals with cholecystolithiasis.
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December 2008