Genomes and Genes
Experts and Doctors on child in Porto, Portugal
Locale: Porto, Portugal
Publications121 found, 100 shown here
- Almeida G, Gibbs P, Hogg T, Teixeira P. Listeriosis in Portugal: an existing but under reported infection. BMC Infect Dis. 2006;6:153 pubmed..monocytogenes to public health is of a similar dimension to that in other countries. ..
- Carvalho A, Grou C, Pinto M, Alencastre I, Costa Rodrigues J, Fransen M, et al. Functional characterization of two missense mutations in Pex5p - C11S and N526K. Biochim Biophys Acta. 2007;1773:1141-8 pubmed..The implications of these findings on the mechanism of protein translocation across the peroxisomal membrane are discussed. ..
- Bettencourt C, Raposo M, Kazachkova N, Santos C, Kay T, Vasconcelos J, et al. Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum. 2012;11:1045-50 pubmed publisher..Accordingly, in silico analysis predicted that this SNP lays in a nonconserved position for CMYB binding. Therefore, no functional effect could be predicted for this variant. ..
- Slezakova K, Oliveira M, Madureira J, Fernandes E, Delerue Matos C, Morais S, et al. Polycyclic aromatic hydrocarbons (PAH) in Portuguese educational settings: a comparison between preschools and elementary schools. J Toxicol Environ Health A. 2017;80:630-640 pubmed publisher..Finally, ILCR due to indoor exposure represented 60-75% and 70-85% of the total ILCR at PS and ES, respectively, thus indicating the need for development and implementation of indoor air quality guidelines in educations settings. ..
- Vieira T, Alves N, Dias C, Da Fonseca A. [Regional asymmetries. What are the differences in lifestyles and life satisfaction among adolescents? A study of students of the 3rd cycle of basic education in Portugal]. Cien Saude Colet. 2015;20:17-28 pubmed publisher..Levels of sport were identical in all geographical areas. It was also found that there were significant differences in all variables of the analysis. ..
- Gama de Sousa S, Barros H. Pertussis in Portugal - time for a new strategy. Rev Port Pneumol. 2010;16:573-88 pubmed..Regarding Portugal, the need for a "booster" in adolescence is emphasized, and other recommendations for pertussis control are suggested. ..
- Martins Costa P, Martins H, Bravo F, Cruz M, Reis J, Oliveira J. Comparison of automated methods for measurement of 25-hydroxyvitamin D. Clin Lab. 2013;59:885-91 pubmed..Between method differences observed in this study still indicates the need for standardization of 25(OH)D assays. ..
- Ramirez Velez R, García Hermoso A, Agostinis Sobrinho C, Mota J, Santos R, Correa Bautista J, et al. Cycling to School and Body Composition, Physical Fitness, and Metabolic Syndrome in Children and Adolescents. J Pediatr. 2017;188:57-63 pubmed publisher..61; 95% CI, 0.35-0.99; P = .048) compared with passive commuters. Regular cycling to school may to be associated with better physical fitness and a lower incidence of metabolic syndrome than passive transport, especially in girls. ..
- Barbosa M, Perdu B, Senra V, Macedo F, Van Hul W, Reis Lima M, et al. [Osteopathia striata with cranial sclerosis]. Acta Med Port. 2010;23:1147-50 pubmed..A mutation in WTX gene confirmed the clinical and radiological diagnosis of Osteopathia Striata with Cranial Sclerosis in this patient and allowed proper genetic counseling and providing prenatal diagnosis...
- Speck Planche A, Luan F, Cordeiro M. Abelson tyrosine-protein kinase 1 as principal target for drug discovery against leukemias. Role of the current computer-aided drug design methodologies. Curr Top Med Chem. 2012;12:2745-62 pubmed
- Soares Miranda L, Alves A, Vale S, Aires L, Santos R, Oliveira J, et al. Central fat influences cardiac autonomic function in obese and overweight girls. Pediatr Cardiol. 2011;32:924-8 pubmed publisher..In addition, our findings suggest that CF might be an important measure to assess the effect of obesity on cANS function in female children. ..
- Garrido C, Levy Gomes A, Teixeira J, Temudo T. [Schilder's disease: two new cases and a review of the literature]. Rev Neurol. 2004;39:734-8 pubmed..It thus becomes possible to avoid invasive forms of treatment, such as surgical resection, which entail a number of sequelae. ..
- Pizarro A, Ribeiro J, Marques E, Mota J, Santos M. Is walking to school associated with improved metabolic health?. Int J Behav Nutr Phys Act. 2013;10:12 pubmed publisher..Exertions to increase and maintain walking to school may be particularly relevant as it is likely to have a positive impact on children's health and eventually decrease metabolic and cardiovascular diseases. ..
- Sigre LeirÃ³s V, Carvalho J, Nobre P. Preliminary Findings on Men's Sexual Self-Schema and Sexual Offending: Differences Between Subtypes of Offenders. J Sex Res. 2016;53:204-13 pubmed publisher..If further research corroborates these preliminary findings, sexual self-concept may be integrated into a comprehensive multifactorial approach of offending behavior. ..
- Amorim S, Cruz C, Macedo F, Bastos P, Gonçalves F. Tetralogy of Fallot: prognostic factors after surgical repair. Rev Port Cardiol. 2005;24:845-55 pubmed..Despite this, long-term prognosis is favorable and patients have good functional capacity. ..
- Estevão Costa J, Soares Oliveira M, Lopes J, Carvalho J. Idiopathic perforation of the gallbladder: a novel differential diagnosis of acute abdomen. J Pediatr Gastroenterol Nutr. 2002;35:88-9 pubmed
- Duarte A, Nogueira A, Lisboa C, Azevedo F. [Pyoderma gangrenosum--clinical, laboratory and therapeutic approaches. Review of 28 cases]. Dermatol Online J. 2009;15:3 pubmed..Pediatric presentation was very rare. In 50 percent of these cases a systemic disease was present and the most frequent was Crohn disease (14% of patients). ..
- Santos M, Page A, Cooper A, Ribeiro J, Mota J. Perceptions of the built environment in relation to physical activity in Portuguese adolescents. Health Place. 2009;15:548-552 pubmed publisher..59; 95% CI 1.05-2.40). Perceptions of some aspects of neighbourhood environment may relate differently to participation in physical activity for boys compared to girls. ..
- Amaro J, Severo M, Vilela S, Fonseca S, Fontes F, La Vecchia C, et al. Patterns of breast cancer mortality trends in Europe. Breast. 2013;22:244-53 pubmed publisher..This study provides a general model for the description and interpretation of the variation in breast cancer mortality in Europe, based in three main patterns. ..
- Lucas R, Ramos E, Severo M, Barros H. Potential for a direct weight-independent association between adiposity and forearm bone mineral density during adolescence. Am J Epidemiol. 2011;174:691-700 pubmed publisher..The association between adiposity and BMD was strongly mediated by weight, and estimates were consistent between methods. No specific benefit in bone quality should be expected from relative increases in adiposity...
- Aires L, Pratt M, Lobelo F, Santos R, Santos M, Mota J. Associations of cardiorespiratory fitness in children and adolescents with physical activity, active commuting to school, and screen time. J Phys Act Health. 2011;8 Suppl 2:S198-205 pubmed
- Carneiro A, Silva R, Veludo M, Barbosa A, Ruiz Moreno J, Falcão M, et al. Ranibizumab treatment for choroidal neovascularization from causes other than age-related macular degeneration and pathological myopia. Ophthalmologica. 2011;225:81-8 pubmed publisher..Short-term results of intravitreal ranibizumab for CNV unrelated to AMD or PM are encouraging. This treatment may constitute the only option for some of these patients. ..
- Silva Ramos M, Oliveira J, Cabeda J, Reis A, Soares J, Pimenta A. The CAG repeat within the androgen receptor gene and its relationship to cryptorchidism. Int Braz J Urol. 2006;32:330-4; discussion 335 pubmed..In the same way, patients with unilateral cryptorchidism a contralateral patent processus vaginalis have longer CAG repeats that might be responsible for a slower testicular descent and incomplete closure of the processus vaginalis. ..
- Costa de Oliveira S, Pina Vaz C, Mendonca D, Gonçalves Rodrigues A. A first Portuguese epidemiological survey of fungaemia in a university hospital. Eur J Clin Microbiol Infect Dis. 2008;27:365-74 pubmed publisher..Important predisposing factors were identified, deserving further investigation. Local surveillance is warranted to monitor the incidence of in vitro antifungal resistance. ..
- Encarnação M, Lacerda L, Costa R, Prata M, Coutinho M, Ribeiro H, et al. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. Clin Genet. 2009;76:76-84 pubmed publisher..610-1G>T and c.639delT (F213LfsX7)]. With regard to the mRNA expression studies, the values obtained by qRT-PCR indicate the possible existence of feedback regulation mechanisms between alpha/beta and the gamma subunits. ..
- Rocha S, Costa E, Rocha Pereira P, Ferreira F, Cleto E, Barbot J, et al. Erythrocyte membrane protein destabilization versus clinical outcome in 160 Portuguese Hereditary Spherocytosis patients. Br J Haematol. 2010;149:785-94 pubmed publisher..Our data suggest that the quantification and the analysis of RBC membrane proteins may be helpful in predicting the clinical outcome of HS. ..
- Valente H, Teixeira V, Padrão P, Bessa M, Cordeiro T, Moreira A, et al. Sugar-sweetened beverage intake and overweight in children from a Mediterranean country. Public Health Nutr. 2011;14:127-32 pubmed publisher..63, 95 % CI 0.76, 3.47, in boys; and >2 servings/d: OR = 0.63, 95 % CI 0.33, 1.22, in girls; OR = 0.64, 95 % CI 0.33, 1.52, in boys). The intake of SSB was not associated with increased risk of overweight in Portuguese schoolchildren. ..
- Caldas I, Magalhães T, Afonso A, Matos E. The consequences of orofacial trauma resulting from violence: a study in Porto. Dent Traumatol. 2010;26:484-9 pubmed publisher..These results showed that orofacial trauma from violence-related events can damage a person's quality of life, especially those concerning the teeth area, as a result of their implications in normal function and in life situations. ..
- Fragoso A, Eloy C, Estevão Costa J, Campos M, Farinha N, Lopes J. Abdominal inflammatory myofibroblastic tumor a clinicopathologic study with reappraisal of biologic behavior. J Pediatr Surg. 2011;46:2076-82 pubmed publisher..A benign behavior of abdominal IMTs was observed even in patients not undergoing surgical excision. Although IMT remains a surgical disease, a conservative approach may be reasonable in select cases. ..
- Vieira Baptista P, Lima Silva J, Beires J, Martinez de Oliveira J. LipschÃ¼tz ulcers: should we rethink this? An analysis of 33 cases. Eur J Obstet Gynecol Reprod Biol. 2016;198:149-52 pubmed publisher..In one case there was a possible role for PVB19. A standard protocol can effectively exclude sexually transmitted diseases and lead to a diagnosis in up to a third of cases. ..
- Silva S, Baxter Jones A, Maia J. Fat Mass Centile Charts for Brazilian Children and Adolescents and the Identification of the Roles of Socioeconomic Status and Physical Fitness on Fat Mass Development. Int J Environ Res Public Health. 2016;13:151 pubmed publisher..Physical fitness levels were found to act as a protective factor in FM increases. As such, we emphasize PF importance as a putative health marker and highlight the need for its systematic development across the school years. ..
- Gomes E, Kvedariene V, Demoly P, Bousquet P. Patients' satisfaction with diagnostic drug provocation tests and perception of its usefulness. Int Arch Allergy Immunol. 2011;156:333-8 pubmed publisher..Most patients were satisfied with DPT for diagnostic purposes. Satisfaction with the procedure was independent of the results of the provocation tests and did not depend on the country. ..
- Ferreira P, Barbosa J, Amarante J, Carvalho J, Rodrigues A, Silva Ã. Associated injuries in pediatric patients with facial fractures in Portugal: Analysis of 1416 patients. J Craniomaxillofac Surg. 2015;43:437-43 pubmed publisher..It is necessary to continue with the implementation of control measures and educational programs for the population, so that the number and severity of accidents causing fractures and their associated injuries continue to decrease. ..
- Ferreira P, Amarante J, Silva A, Pereira J, Cardoso M, Rodrigues J. Etiology and patterns of pediatric mandibular fractures in Portugal: a retrospective study of 10 years. J Craniofac Surg. 2004;15:384-91 pubmed..To determine the pattern of occurrence of mandibular fractures in the pediatric population in Portugal...
- Fragoso A, Pereira J, Estevão Costa J. Nonoperative management of omental infarction: a case report in a child. J Pediatr Surg. 2006;41:1777-9 pubmed..Nonoperative treatment of omental infarction is safe and effective; accurate diagnosis is therefore crucial to enable a conservative approach. Suggestive clinical features and diagnostic workup are addressed...
- Mota C, Martins L, Costa T, Dias L, Almeida M, Santos J, et al. Nineteen years of experience utilizing anti-T-Lymphocyte globulin induction in pediatric kidney transplantation. Ann Transplant. 2010;15:84-91 pubmed..These results indicate that ATG-F induction in pediatric kidney transplantation using deceased donor kidneys is associated with good graft and patient survival rates, and with low levels of complications. ..
- Correia Costa L, Sousa T, Morato M, Cosme D, Afonso J, Moura C, et al. Association of myeloperoxidase levels with cardiometabolic factors and renal function in prepubertal children. Eur J Clin Invest. 2016;46:50-9 pubmed publisher..MPO levels associate with the dipping pattern and PWV and, among overweight/obese children, an association exists between MPO and renal function. ..
- Ribeiro C, Coelho L, MagalhÃ£es T. Comparing corporal punishment and children's exposure to violence between caregivers: Towards better diagnosis and prevention of intrafamilial physical abuse of children. J Forensic Leg Med. 2016;38:11-7 pubmed publisher..Evidence-based knowledge of these differences may help in accurate diagnosis by doctors (particularly forensic physicians) and prevention of this type of violence through support strategies (including tertiary prevention strategies). ..
- Botelho M, Machado A, Carvalho A, VilaÃ§a M, ConceiÃ§Ã£o O, Rosa F, et al. Schistosoma haematobium in Guinea-Bissau: unacknowledged morbidity due to a particularly neglected parasite in a particularly neglected country. Parasitol Res. 2016;115:1567-72 pubmed publisher..These observations underscore the notion that this vulnerable but neglected population urgently needs to be targeted for implementation of measures for treatment and control. ..
- Santos J, Cerveira N, Correia C, Lisboa S, Pinheiro M, Torres L, et al. Coexistence of alternative MLL-SEPT9 fusion transcripts in an acute myeloid leukemia with t(11;17)(q23;q25). Cancer Genet Cytogenet. 2010;197:60-4 pubmed publisher..This is the first description of a MLL-SEPT9 fusion resulting in coexistence of two alternative splicing variants, each of which previously found isolated in myeloid leukemias. ..
- Martins M, Carvalho M, Vaz I, Capelas J, Martins M, Gutknecht N. Efficacy of Er,Cr:YSGG laser with endodontical radial firing tips on the outcome of endodontic treatment: blind randomized controlled clinical trial with six-month evaluation. Lasers Med Sci. 2013;28:1049-55 pubmed publisher..There was one treatment failure in group 1. Both groups gave similar outcomes exhibiting statistically significant decreases in PAI scores. ..
- Guerra A, Demmelmair H, Toschke A, Koletzko B. Three-year tracking of fatty acid composition of plasma phospholipids in healthy children. Ann Nutr Metab. 2007;51:433-8 pubmed
- Lima M, Almeida J, Santos A, dos Anjos Teixeira M, Alguero M, Queirós M, et al. Immunophenotypic analysis of the TCR-Vbeta repertoire in 98 persistent expansions of CD3(+)/TCR-alphabeta(+) large granular lymphocytes: utility in assessing clonality and insights into the pathogenesis of the disease. Am J Pathol. 2001;159:1861-8 pubmed..In summary, our results suggest that flow cytometry immunophenotypic analysis of the TCR-Vbeta repertoire is a powerful screening tool for the assessment of T-cell clonality in persistent expansions of TCR-alphabeta(+) LGLs. ..
- Lima M, Teixeira M, Queirós M, Santos A, Gonçalves C, Correia J, et al. Immunophenotype and TCR-Vbeta repertoire of peripheral blood T-cells in acute infectious mononucleosis. Blood Cells Mol Dis. 2003;30:1-12 pubmed..The results presented here provide evidence for an extensive T-cell activation during acute viral infection and establish the immunophenotype patterns associated with this condition. ..
- Capão Filipe J, Rocha Sousa A, Falcao Reis F, Castro Correia J. Modern sports eye injuries. Br J Ophthalmol. 2003;87:1336-9 pubmed..Adequate instruction of the participants in the games, proper use of eye protectors, and a routine complete ophthalmological examination after an eye trauma should be mandatory. ..
- Vale M, Dinis M, Bini Antunes M, Porto B, Barbot J, Coutinho M. Audiologic abnormalities of Fanconi anaemia. Acta Otolaryngol. 2008;128:992-6 pubmed publisher..It is an asymmetrical, bilateral, conductive hearing loss that is more severe at lower frequencies. Two patients (25%) have unilateral type I microtia and stenotic external ear canal. ..
- da Silva L, David L, Ribeiro D, Felino A. Odontomas: a clinicopathologic study in a Portuguese population. Quintessence Int. 2009;40:61-72 pubmed..0%) and maxillary third molar (n= 4; 12.9%). This study provides clinical and pathological information on odotogenic tumors in a nothern Portuguese population ..
- Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, et al. Identification of novel L2HGDH gene mutations and update of the pathological spectrum. J Hum Genet. 2010;55:55-8 pubmed publisher..In addition, we used the haplotypic information based on polymorphic markers to demonstrate the common origin of Gly57Arg harboring chromosomes. ..
- Brandão J, Pinheiro J, Pinho D, Correia Da Silva D, Fernandes E, Fragoso G, et al. [Mushroom poisoning in Portugal]. Acta Med Port. 2011;24 Suppl 2:269-78 pubmed..Finally, we propose a diagram of diagnostic performance, considerating the generalized lack of mycological diagnosis in Portugal, which emphasizes the need for a careful history, focused on quantifying the latency period...
- Vinagre J, Almeida A, Pópulo H, Batista R, Lyra J, Pinto V, et al. Frequency of TERT promoter mutations in human cancers. Nat Commun. 2013;4:2185 pubmed publisher..Our results show that TERT promoter mutations are relatively frequent in specific types of human cancers, where they lead to enhanced expression of telomerase. ..
- Bettencourt A, Silva A, Carvalho C, Leal B, Santos E, Costa P, et al. The role of KIR2DS1 in multiple sclerosis--KIR in Portuguese MS patients. J Neuroimmunol. 2014;269:52-5 pubmed publisher..450, p=0.030) independently from the presence of HLA-DRB1*15 allele. The activating KIR2DS1 receptor seems to confer protection against MS most probably through modulation of autoreactive T cells by Natural Killer cells. ..
- Yeung J, Balakrishnan K, Cheng A, Daniel S, Garabedian E, Hart C, et al. International Pediatric Otolaryngology Group: Consensus guidelines on the diagnosis and management of type I laryngeal clefts. Int J Pediatr Otorhinolaryngol. 2017;101:51-56 pubmed publisher..Using existing peer-reviewed literature to develop an expert-based consensus will help guide physicians in the treatment of these patients as well as develop research hypotheses to further study this condition...
- Lecour H, Miranda M, Magro C, Rocha A, Goncalves V. Human leptospirosis--a review of 50 cases. Infection. 1989;17:8-12 pubmed..A good knowledge of the protean clinical manifestations of leptospirosis and an accurate laboratory study are required for a correct diagnosis...
- Capao Filipe J, Fernandes V, Barros H, Falcao Reis F, Castro Correia J. Soccer-related ocular injuries. Arch Ophthalmol. 2003;121:687-94 pubmed..The development of laboratory models will be essential to explain the tendency for lesions to be in the superotemporal quadrant. The data support the need for protective eyewear designed specifically for soccer. ..
- Ferreira A, Almeida S, Tavares M, Canedo P, Pereira F, Regalo G, et al. NOD2/CARD15 and TNFA, but not IL1B and IL1RN, are associated with Crohn's disease. Inflamm Bowel Dis. 2005;11:331-9 pubmed..These findings suggest that CARD15 and TNFA-308 genetic polymorphisms are associated with increased risk of CD displaying distinct clinicopathological profiles. ..
- Penas S, Faria O, Serrão R, Capao Filipe J, Mota Miranda A, Falcao Reis F. Ophthalmic manifestations in 18 patients with botulism diagnosed in Porto, Portugal between 1998 and 2003. J Neuroophthalmol. 2005;25:262-7 pubmed..The aim of this study was to investigate the epidemiological and clinical features of botulism-infected patients admitted to a general hospital in Porto, Portugal...
- Bessa C, Teixeira C, Mangas M, Dias A, Sa Miranda M, Guimaraes A, et al. Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. Mol Genet Metab. 2006;89:245-53 pubmed
- Gomes Martins E, Santos Silva E, Vilarinho S, Saudubray J, Vilarinho L. Neonatal cholestasis: an uncommon presentation of hyperargininemia. J Inherit Metab Dis. 2010;33 Suppl 3:S503-6 pubmed publisher..In fact, these two cases suggest that arginase deficiency may be the cause of cholestatic liver disease. ..
- Conceição Pereira M, Loureiro J, Pinto Basto J, Brandão E, Margarida Lopes A, Neves G, et al. Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations. Genet Med. 2012;14:143-51 pubmed publisher..These findings enlarge the amount of data relating repeated elements with neurodegenerative disorders and highlight their importance in human disease and genome evolution. ..
- Catera M, Borelli V, Malagolini N, Chiricolo M, Venturi G, Reis C, et al. Identification of novel plasma glycosylation-associated markers of aging. Oncotarget. 2016;7:7455-68 pubmed publisher..5) Although the glycosylation of IgGs was not correlated with the level of the two plasmatic glycosyltransferases, it showed progressive age-associated changes consistent with a shift toward a pro-inflammatory glycotype. ..
- Branco P, Nunes R, Alvim Ferraz M, Martins F, Sousa S. Children's Exposure to Radon in Nursery and Primary Schools. Int J Environ Res Public Health. 2016;13:386 pubmed publisher..It is important to extend the study to other microenvironments like homes, and in time to estimate the annual effective dose and to assess lifetime health risks. ..
- Manyanga T, Tremblay M, Chaput J, Katzmarzyk P, Fogelholm M, Hu G, et al. Socioeconomic status and dietary patterns in children from around the world: different associations by levels of country human development?. BMC Public Health. 2017;17:457 pubmed publisher..However, future studies should seek to replicate these findings in more representative samples extended to more rural representation. ..
- Werkstetter K, Korponay SzabÃ³ I, Popp A, Villanacci V, Salemme M, Heilig G, et al. Accuracy in Diagnosis of Celiac Disease Without Biopsies inÂ Clinical Practice. Gastroenterology. 2017;153:924-935 pubmed publisher..HLA analysis is not required for accurate diagnosis. Clinical Trial Registration no: DRKS00003555. ..
- Pópulo H, Batista R, Sampaio C, Pardal J, Lopes J, Soares P. SDHD promoter mutations are rare events in cutaneous melanomas but SDHD protein expression is downregulated in advanced cutaneous melanoma. PLoS ONE. 2017;12:e0180392 pubmed publisher..SDHD promoter mutation seems to be a rare event in CM but SDHD lower expression might associate with worst prognostic features in CM. ..
- Tavares M, Correia da Costa J, Carpenter S, Santos L, Afonso C, Aguiar A, et al. Diagnosis of first case of Balamuthia amoebic encephalitis in Portugal by immunofluorescence and PCR. J Clin Microbiol. 2006;44:2660-3 pubmed..Despite initiation of empirical antimicrobial therapy for balamuthiasis, the patient died 3 weeks after being admitted to the hospital. No source of infection was readily apparent...
- Portugal R, Barroca H. Clear cell sarcoma, cellular mesoblastic nephroma and metanephric adenoma: cytological features and differential diagnosis with Wilms tumour. Cytopathology. 2008;19:80-5 pubmed..Summing up, these three cases demonstrate that cytopathologists should be aware of the occurrence of uncommon renal neoplasms in childhood and should be acquainted with their characteristics, in order to avoid false diagnoses...
- Oliveira J, Santos R, Soares Silva I, Jorge P, Vieira E, Oliveira M, et al. LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. Clin Genet. 2008;74:502-12 pubmed publisher..Our results corroborate the previous few genotype/phenotype correlations in MDC1A and illustrate the importance of screening for gross rearrangements in the LAMA2 gene, which may be underestimated in the literature. ..
- Castro M, Stam A, Lemos C, de Vries B, Vanmolkot K, Barros J, et al. First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy. Cephalalgia. 2009;29:308-13 pubmed publisher..The results extend the clinical spectrum associated with SCN1A mutations and further strengthen the molecular evidence that FHM and epilepsy share, at least in part, similar molecular pathways. ..
- Barros R, Mendes N, Howe J, Reis C, de Bolos C, Carneiro F, et al. Juvenile polyps have gastric differentiation with MUC5AC expression and downregulation of CDX2 and SMAD4. Histochem Cell Biol. 2009;131:765-72 pubmed publisher..In conclusion, juvenile polyps have gastric transdifferentiation associated with downregulation of CDX2 and SMAD4, lending support to the role of the BMP/SMAD pathway in CDX2 regulation. ..
- Palmares J, Delgado L, Cidade M, Quadrado M, Filipe H. Allergic conjunctivitis: a national cross-sectional study of clinical characteristics and quality of life. Eur J Ophthalmol. 2010;20:257-64 pubmed..As a secondary outcome, patient's initial therapeutic and health care options, self-perception of health, and work/school absenteeism were also evaluated...
- Cerveira N, Meyer C, Santos J, Torres L, Lisboa S, Pinheiro M, et al. A novel spliced fusion of MLL with CT45A2 in a pediatric biphenotypic acute leukemia. BMC Cancer. 2010;10:518 pubmed publisher..3. Since CT45A2 is the first Cancer/Testis antigen family gene found fused with MLL in acute leukemia, future studies addressing its biologic relevance for leukemogenesis are warranted. ..
- Moreira P, Oliveira J, Cloninger K, Azevedo C, Sousa A, Castro J, et al. The psychometrics and validity of the Junior Temperament and Character Inventory in Portuguese adolescents. Compr Psychiatry. 2012;53:1227-36 pubmed publisher..The psychobiological model, as measured by the JTCI and TCI-Revised, performed as well or better than other measures of personality or intelligence in predicting academic achievement. ..
- Côrte F, Firmino Machado J, Moura C, Spratley J, Santos M. Acute pediatric neck infections: Outcomes in a seven-year series. Int J Pediatr Otorhinolaryngol. 2017;99:128-134 pubmed publisher..Presence of toothache and neck pain on admission was identified as possible predictors of complications. ..
- Ribeiro I, Marcao A, Amaral O, Sa Miranda M, Vanier M, Millat G. Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Hum Genet. 2001;109:24-32 pubmed
- Máximo V, Soares P, Lima J, Cameselle Teijeiro J, Sobrinho Simoes M. Mitochondrial DNA somatic mutations (point mutations and large deletions) and mitochondrial DNA variants in human thyroid pathology: a study with emphasis on Hürthle cell tumors. Am J Pathol. 2002;160:1857-65 pubmed..Germline polymorphisms of the ATPase 6 gene are associated with the occurrence of mtDNA CD, the hallmark of Hürthle cell tumors...
- Rocha A, Soares P, Machado J, Máximo V, Fonseca E, Franssila K, et al. Mucoepidermoid carcinoma of the thyroid: a tumour histotype characterised by P-cadherin neoexpression and marked abnormalities of E-cadherin/catenins complex. Virchows Arch. 2002;440:498-504 pubmed..Our results point to the close relationship between the de novo expression of P-cadherin and the disruption of the cadherin/catenins complex with the squamoid phenotype of MECT. ..
- Ferreira P, Marques M, Pinho C, Rodrigues J, Reis J, Amarante J. Midfacial fractures in children and adolescents: a review of 492 cases. Br J Oral Maxillofac Surg. 2004;42:501-5 pubmed..Most fractures were treated by closed reduction, and only 139 (25%) were treated by observation. Complications, including unsatisfactory fracture repair and infection, were recorded in 18 (4%) and the overall mortality was 1% (n = 8)...
- Vilarinho L, Cardoso M, Gaspar P, Barbot C, Azevedo L, Diogo L, et al. Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat. 2005;26:395-6 pubmed
- Seixas D, Lobo A, Farinha N, Cavadas L, Campos M, Ayres Basto M, et al. Burkitt leukemia with numb chin syndrome and cavernous sinus involvement. Eur J Paediatr Neurol. 2006;10:145-7 pubmed
- Botelho M, Crespo M, Almeida A, Vieira P, Delgado M, Araujo L, et al. Schistosoma haematobium and Schistosomiasis mansoni: production of an estradiol-related compound detected by ELISA. Exp Parasitol. 2009;122:250-3 pubmed publisher..Our results demonstrate for the first time the production of an estradiol-related compound by a human parasite of the genus Schistosoma...
- Veloso B, Nogueira J, Cardoso M. Lung cancer and indoor radon exposure in the north of Portugal--an ecological study. Cancer Epidemiol. 2012;36:e26-32 pubmed publisher..Indoor radon exposure is a well documented environmental factor as a leading cause of lung cancer...
- Durães C, Machado J, Portela F, Rodrigues S, Lago P, Cravo M, et al. Phenotype-genotype profiles in Crohn's disease predicted by genetic markers in autophagy-related genes (GOIA study II). Inflamm Bowel Dis. 2013;19:230-9 pubmed publisher..07); the OR for positive response to biologic therapy is 3.66. A multilocus approach using autophagy-related genes provides insight into CD phenotype-genotype associations and genetic markers for predicting therapeutic responses. ..
- Pletikos M, Sousa A, Sedmak G, Meyer K, Zhu Y, Cheng F, et al. Temporal specification and bilaterality of human neocortical topographic gene expression. Neuron. 2014;81:321-32 pubmed publisher..Analyses of left-right gene expression revealed population-level global symmetry throughout the fetal and postnatal time span. Thus, human neocortical topographic gene expression is temporally specified and globally symmetric. ..
- Andaki A, Quadros T, Gordia A, Mota J, Tinôco A, Mendes E. Skinfold reference curves and their use in predicting metabolic syndrome risk in children. J Pediatr (Rio J). 2017;93:490-496 pubmed publisher..SF measurements were accurate in predicting metabolic syndrome in children aged 6-10 years old. Age- and gender-specific smoothed percentiles curves of SF provide a reference for the detection of risk for MetS in children. ..
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