Browsing by Author "Pinto, M"
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- Achondroplasia and Down’s Syndrome – Case Report of a Rare AssociationPublication . Santos, S; Silva, T; Pinto, MThe association of achondroplasia and Down’s syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that complicate management and follow up. We report the case of a girl that is unique since she was born from a mother with achondroplasia and a healthy father. Achondroplasia was dominantly inherited from the mother but at birth she had features of Down’s syndrome as well, confirmed later by kariotype. We review her evolution regarding physical health, cognitive problems and adaptive behavior during her eight years of life. To our knowledge this is the first report of the combination of both disorders in which the achondroplasia was inherited and not a “de novo” mutation. We address the problems resulting from the additional burden of having two disorders, and how they can be improved, aiming to help others in the future to deal with these cases.
- Acute Haematogenous Osteomyelitis in Lisbon: An Unexpectedly High Association with Myositis and ArthritisPublication . Gouveia, C; Branco, J; Norte, S; Arcangelo, J; Alves, P; Pinto, M; Tavares, DIntroduction: Despite the current trend toward less aggressive therapeutic approaches, acute haematogenous osteomyelitis (AHO) continues to be a challenge and is associated with significant morbidity worldwide. Our aim was to assess whether compliance with the current protocol was achieved in 80% of cases, to identify complications and the associated risk factors, and to analyse trends in the aetiology and management of AHO in the paediatric population. Methods: We conducted a longitudinal, observational, single-centre study in patients with AHO aged less than 18 years admitted to a paediatric hospital between 2008 and 2018 divided in 2 cohorts (before and after 2014). We analysed data concerning demographic and clinical characteristics and outcomes. Results: The study included 71 children with AHO, 56% male, with a median age of 3 years (interquartile range, 1-11). We found a 1.8-fold increase of cases in the last 5 years. The causative agent was identified in 37% of cases: MSSA (54%), MRSA (4%), S. pyogenes (19%), K. kingae (12%), S. pneumoniae (8%), and N. meningitidis (4%). Complications were identified in 45% of patients and sequelae in 3.6%. In recent years, there was an increase in myositis (30% vs 7%; P=.02), septic arthritis (68 vs 37.2%; p=0.012) and in the proportion of patients treated for less than 4 weeks (37 vs 3.5%; p=0.012), with a similar sequelae rates. The risk factors associated with complications were age 3 or more years, C-reactive protein levels of 20mg/L or higher, time elapsed between onset and admission of 5 or more days and positive culture, although the only factor that continued to be significantly associated in the multivariate analysis was positive culture. The presence of complications was a risk factor for sequelae at 6 months. Conclusions: Our study confirms that AHO can be aggressive. The identification of risk factors for complications is essential for management.
- An Eleven-Year-Old Boy With Arthritis of the Hip Joint, and an 8-Year-Old Boy With SacroiliitisPublication . Mendo, T; Norte, S; Alves, P; Tavares, D; Pinto, M; Gouveia, C
- Attachment, Physiological and Familial Vulnerability in Childhood Obesity: an Interactive Multisystem ApproachPublication . Pinto, I; Oliveira, L; Pinto, M; Calhau, C; Coelho, RThe aims of the present study were to test the association between insecure attachment and basal cortisol and catecholamines levels in a sample of obese children. The role of familial vulnerability and gender was also investigated. Methods: Cortisol and catecholamines levels of 8- to 13-year olds obese children were measured. Self-report questionnaires were used to assess attachment pattern and current anxiety and depression, and parent-report questionnaires were used to assess attachment, current anxiety and depression and familial vulnerability. Linear regression analyses were performed for individuals that scored low versus high on parental internalizing problems, and for boys and girls, separately. Results: In the group with high parental internalizing problems, insecure attachment was significantly associated with reduced basal levels of cortisol, in boys (p=0.007, b= -0.861, R2= 73.0%). In the group with low parental internalizing problems, the association between insecure attachment and cortisol was not significant in either boys or girls, and it was negative in boys (p=0.075, b= -0.606, R2= 36.7%) and positive in girls (p=0.677, b= 0.176, R2= 3.1%) . Conclusions: Apparently, physiological risk factors for psicopathology in obesity are more evident in individuals with a high familial vulnerability. In addition, patterns of physiological risk for psicopathology in obesity are different in boys and girls. Therefore, it is important to take into account familial vulnerability and gender when investigating physiological risk factors for psycopathology in obesity. Insecure attachment in childhood may be a risk factor for obesity. Interventions to increase children's attachment security should examine the effects on children's weight.
- Autism Spectrum Disorder Secondary to Enterovirus EncephalitisPublication . Marques, F; Brito, MJ; Conde, M; Pinto, M; Moreira, AMillions of children are infected by enteroviruses each year, usually exhibiting only mild symptoms. Nevertheless, these viruses are also associated with severe and life-threatening infections, such as meningitis and encephalitis. We describe a 32-month-old patient with enteroviral encephalitis confirmed by polymerase chain reaction in cerebrospinal fluid, with unfavorable clinical course with marked developmental regression, autistic features, persistent stereotypes and aphasia. She experienced slow clinical improvement, with mild residual neurologic and developmental deficits at follow-up. Viral central nervous system infections in early childhood have been associated with autism spectrum disorders but the underlying mechanisms are still poorly understood. This case report is significant in presenting a case of developmental regression with autistic features and loss of language improving on follow-up. To our knowledge, this is the first published report of enterovirus encephalitis leading to an autism spectrum disorder.
- Caracterização do Perfil Microbiológico e de Sensibilidade Antimicrobiana dos Microrganismos Isolados em Úlceras Diabéticas de Doentes de um Hospital PortuguêsPublication . Cabete, J; Moniz, L; Pinto, M; Neves, J; Alves, CP
- Confronting Ceftolozane-Tazobactam Susceptibility in Multidrug-Resistant Enterobacterales Isolates and Whole-Genome Sequencing Results (STEP Study)Publication . Hernández-García, M; García-Fernández, S; García-Castillo, M; Melo-Cristino, J; Pinto, M; Gonçalves, E; Alves, V; Costa, E; Ramalheira, E; Sancho, L; Diogo, J; Ferreira, R; Silva, T; Chaves, C; Pássaro, L; Paixão, L; Romano, J; Cantón, J; STEP Study GroupCeftolozane-tazobactam (C/T) is frequently used for infections caused by multidrug-resistant (MDR)-Enterobacterales isolates. Whole-genome sequencing (WGS, Illumina-Hiseq 4000/NovaSeq 6000, OGC, UK) was used to study the population structure, the resistome and the virulome of C/T-susceptible and -resistant MDR Escherichia spp. (n=30) and Klebsiella spp. (n=78) isolates, recovered from lower respiratory, intra-abdominal and urinary tract infections of ICU patients from 11 Portuguese Hospitals (STEP study, 2017-2018). Minimum inhibitory concentrations (MICs) were determined (ISO-broth microdilution, breakpoints EUCAST-2020). In Escherichia spp., a weak concordance between the phenotypic and the WGS method (P=0.051) was observed in the carbapenemase detection (3/30) [blaVIM-2 (2/3), blaKPC-3 (1/3)]; VIM-2-Escherichia coli isolates were C/T-susceptible and only the KPC-3-Escherichia marmotae producer showed C/T-resistance. Overall, CTX-M-15-E. coli-ST131-O25:H4-H30-Rx (11/30) was the most frequent subclone, followed by CTX-M-27-E. coli-ST131-O25:H4-H30 (4/4). Moreover, a wide resistome and virulome were detected in all E. coli isolates. Among Klebsiella spp. isolates [K. pneumoniae (67/78), K. aerogenes (7/78), K. oxytoca (2/78), K. variicola (2/78)], concordance (P<0.001) was observed between the phenotypic and the genomic carbapenemase detection (21/78) [blaKPC-3 (14/21), blaOXA-48 (3/21), blaOXA-181 (3/21)]. A high correlation between C/T-resistance and carbapenemase detection was established (P<0.05). Overall, a high clonal diversity was observed, mainly in KPC-3-producing K. pneumoniae isolates. An extensive resistome was detected in Klebsiella spp. isolates, whereas virulence determinants were mostly identified in carbapenemase producers (P<0.001). WGS is a powerful tool for typing characterization and microbiological study of MDR-Enterobacterales pathogens. Furthermore, carbapenemase genes are associated with C/T-resistance in Klebsiella spp., but other mechanisms might also be involved.
- Cyto-Histological Profile of MicroRNAs as Diagnostic Biomarkers in Differentiated Thyroid CarcinomasPublication . Matos, ML; Pinto, M; Alves, M; Canberk, S; Gonçalves, A; Bugalho, MJ; Papoila, AL; Soares, PIntroduction: The repertoire of microRNAs (miRNAs) in thyroid carcinomas starts to be elucidated. Among differentiated thyroid carcinomas (DTCs), papillary thyroid carcinoma (PTC) is the most frequent. The assessment of miRNAs expression may contribute to refine the pre-surgical diagnosis in order to obtain a personalized and more effective treatment for patients. Aims: This study aims to evaluate (1) the miRNAs in a series of DTCs, and their association with the presence of selected genetic mutations in order to improve diagnosis and predict the biologic behavior of DTC/PTC. (2) The reliability of molecular tests in Ultrasound-guided Fine Needle Aspiration Cytology (US-FNAC) for a more precise preoperative diagnosis. Material and methods: This series includes 176 samples (98 cytology and 78 histology samples) obtained from 106 patients submitted to surgery, including 13 benign lesions (controls) and 93 DTCs (cases). The microRNA expression was assessed for miR-146b, miR-221, miR-222, and miR-15a through quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR). The results were analyzed by the 2-ΔΔCT method, using miR16 as an endogenous control. Regarding PTC diagnosis, the discriminative ability of miRNAs expression was assessed by the area under the Receiver Operating Characteristic Curve (AUC). In PTCs, the association of miRNAs expression, clinicopathological features, and genetic mutations (BRAF, RAS, and TERTp) was evaluated. Results/discussion: All the analyzed miRNAs presented a tendency to be overexpressed in DTCs/PTCs when compared with benign lesions, both in cytology and histology samples. In cytology, miRNAs expression levels were higher in malignant tumors than in benign tumors. In histology, the discriminative abilities regarding PTC diagnosis were as follows: miR-146b (AUC 0.94, 95% CI 0.87-1), miR-221 (AUC 0.79, 95% CI 0.68-0.9), miR-222 (AUC 0.76, 95% CI 0.63-0.89), and miR-15a (AUC 0.85, 95% CI 0.74-0.97). miR-146b showed 89% sensitivity (se) and 87% specificity (sp); miR-221 se = 68.4, sp = 90; miR-222 se = 73, sp = 70; and mi-R15a se = 72, sp = 80. MicroRNAs were associated with worst-prognosis clinicopathological characteristics in PTCs (p < 0.05), particularly for miR-222. Our data reveal a significant association between higher expression levels of miR-146b, miR-221, and miR-222 in the presence of the BRAF mutation (p < 0.001) and miR-146b (p = 0.016) and miR-221 (p = 0.010) with the RAS mutation, suggesting an interplay of these mutations with miRNAs expression. Despite this study having a relatively small sample size, overexpression of miRNAs in cytology may contribute to a more precise preoperative diagnosis. The miRNAs presented a good discriminative ability in PTC diagnosis. The association between the miRNAs expression profile and genetic alterations can be advantageous for an accurate diagnosis of DTCs/PTCs in FNAC.
- Deficiência Mental: Casuística da Unidade de Desenvolvimento do Hospital de Dona EstefâniaPublication . Amaral, R; Pinto, M; Pimentel, MJ; Martins, M; Vale, MCSegundo a DSM IV a Deficiência Mental (DM) define-se como o funcionamento intelectual global inferior à média (QI < 70) associado a perturbações do comportamento adaptativo com início antes dos 18 anos. Procurou-se caracterizar retrospectivamente a população de crianças com DM observadas no Centro de Desenvolvimento do Hospital de Dona Estefânia (CDHDE), entre Janeiro 2005 e Junho 2007. Foram avaliados os dados epidemiológicos, gravidade, etiologia, co-morbilidade e intervenção proposta. Do total de 232 processos clínicos observados, 185 apresentavam DM. Classificaram-se em DM ligeira 112 (61%), DM moderada 54 (29%), DM grave 17 (9%) e profunda 2 (1%). Foram definidas etiologias em 86 crianças (46%) sendo a taxa de diagnóstico mais elevada na DM de maior gravidade. Observou-se uma elevada variabilidade de etiologias: as mais frequentemente encontradas foram as doenças genéticas, prematuridade e patologia associada. Foi detectada co-morbilidade em 123 crianças (66%), sendo a mais frequente as do foro oftalmológico (57 crianças, 46%). Foram propostas e sinalizadas para apoio a totalidade das crianças com DM, 47% em intervenção precoce e 58% em educação especial, das quais 5% usufruiram, por curto período, do apoio simultaneo de educadora de Intervenção Precoce e de docente do Ensino Especial, durante o período inicial de integração em jardim de infância. Observou-se um predomínio do sexo masculino. Foi efectuada caracterização clínica e funcional das crianças seguidas no CDHDE com o diagnóstico de DM e encontraram-se semelhanças entre os dados presentes e os descritos na literatura. Contudo alguns dados diferem de outras casuísticas decorrente, muito provavelmente decorrente da heterogeneidade da população estudada, quer do ponto de vista etiológico, quer no referente aos grupos etários, provavelmente condicionada, pela política assistencial.
- Diabetic Foot Infection: Causative Pathogens and Empiric Antibiotherapy Considerations-The Experience of a Tertiary CenterPublication . Neves, JM; Duarte, B; Pinto, M; Formiga, A; Neves, JMost moderate-to-severe diabetic foot infections (DFIs) require hospitalization with urgent surgical approach and administration of empiric antibiotherapy. To ensure optimal antibiotic coverage, regular microbiological background updates are imperative. The purpose is to characterize the microbiological profile and the antibiotic sensitivity pattern of the DFI causative pathogens isolated within a specialized DFI unit of a tertiary hospital, in order to establish evidence-based policies regarding empirical antibiotic use. A cross-sectional study was conducted. Microbiological cultures and corresponding antibiotic sensitivity tests collected from moderate-to-severe DFIs as a first approach to the hospitalized patient were retrieved and analyzed during a 12-month period. Two groups were analyzed: inpatients that had been previously followed at the diabetic foot clinic of the hospital and inpatients without a previous contact with the hospital services. A total of 125 isolates obtained from 87 patients were deemed for analysis. Globally, a predominance of Gram-positive bacteria was observed (60%). Staphylococcus aureus was the most common pathogen. The global ratio of methicillin-sensitive S aureus to methicillin-resistant S aureus (MRSA) was 1.3:1, with similar findings in both groups. According to the antibiotic sensitivity test results, and within the recommended empiric antibiotic regimens for DFI, piperacillin/tazobactam seems to be the most suitable option. Gram-positive bacteria prevail as the main isolates in DFIs. Screening for MRSA-specific risk factors is mandatory. When going for a first empiric therapy, piperacillin/tazobactam is recommended in this institution, and an anti-MRSA agent should be added early, if necessary. We encourage continuous monitoring for the bacterial prevalence in Portuguese diabetic foot centers as it is paramount for the decision making regarding DFI protocols.
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