Browsing by Author "Carmo, S"
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- Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year StudyPublication . Pereira, A; Fradinho, N; Carmo, S; de Sousa, J; Rasteiro, D; Duarte, R; Leal, MJBACKGROUND: Orofacial clefts are among the most common congenital craniofacial malformations and may be associated with other birth defects. However, the proportion and type of additional anomalies vary greatly between studies. This study assessed the prevalence and type of associated congenital malformations in children with orofacial clefts, who attended the largest cleft lip and palate tertiary referral center in Portugal. METHODS: Consecutive children with orofacial clefts who attended at least 1 consultation in our Clefts Unit between 1981 and 2012 were studied. Demographic and clinical data regarding the number and type of associated malformations were retrospectively collected and analyzed. RESULTS: Of the 701 patients studied, 219 (31.2%) had associated congenital malformations. These malformations were more frequent in children with cleft palate (43.4%) than in children with cleft lip and palate (27.5%) or with cleft lip only (19.4%). Within the group with associated anomalies, 73 cases (33.3%) had conditions related with known chromosomal defects, monogenic syndromes or sequences, and 146 cases (66.7%) had multiple congenital anomalies of unknown origin. From those, head and neck malformations were the most common (60.3%), followed by malformations in the cardiovascular (28.3%) and musculoskeletal systems (26%). CONCLUSIONS: The overall prevalence of associated malformations of nearly 1 in 3 children with orofacial clefts stressed the need for a comprehensive evaluation of these patients by a multidisciplinary cleft team. Moreover, one-third of the children had multiple congenital anomalies of known origins. Thus, early routine screening for other malformations and genetic counseling might be valuable for orofacial clefts management.
- Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year StudyPublication . Pereira, AV; Fradinho, N; Carmo, S; de Sousa, JM; Rasteiro, D; Duarte, R; Leal, MJOrofacial clefts are among the most common congenital craniofacial malformations and may be associated with other birth defects. However, the proportion and type of additional anomalies vary greatly between studies. This study assessed the prevalence and type of associated congenital malformations in children with orofacial clefts, who attended the largest cleft lip and palate tertiary referral center in Portugal.
- Mitchell-Riley Syndrome: A Novel Mutation in RFX6 GenePublication . Zegre Amorim, M; Houghton, JAL; Carmo, S; Salva, I; Pita, A; Pereira-da-Silva, LA novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.
- Mitchell-Riley Syndrome: A Novel Mutation in RFX6 GenePublication . Amorim, M; Houghton, J; Carmo, S; Salva, I; Pita, A; Pereira-da-Silva, LA novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β-cell function, adding information to the existent mutation databases.
- Neonatal Acute Compartment Syndrome as First Manifestation of Hematologic Disease: Case ReportPublication . Sacras, ML; Ladeira, C; Carmo, S; Kjöllerström, PHemophilia A, characterized by deficiency of functional plasma clotting factor VIII, is an X-linked disorder. Signs and symptoms depend on factor VIII levels. Severe hemophilia A (factor levels less than 1%) is usually diagnosed in the first two years of life. Pediatric compartment syndrome is most associated with trauma, but infectious and vascular causes must also be considered. We report a case of a newborn who presented with a severe hand hematoma after venous puncture, complicated by compartment syndrome. An isolated prolonged partial thromboplastin time was found, and hemophilia was suspected. Factor VIII levels less than 1% were consistent with severe hemophilia A. The patient received recombinant factor VIII perioperatively. Fasciotomy was performed and the patient was kept on antibiotics until closure.
- Persistência da Veia Cava Superior Esquerda Associada a Atresia do Esófago - Revisão de 5 CasosPublication . Knoblich, M; Silva, A; Ladeira, C; Carmo, S; Murinello, R; Casella, PObjectivos: A atresia do esófago está associada a uma variedade de malformações congénitas de outros órgãos. A persistência da veia cava superior esquerda e uma das malformações venosas torácicas mais comuns, ocorrendo em 0,3% da população. O objectivo deste estudo é caracterizar a persistência da veia cava superior esquerda nos doentes com atresia do esófago tratados no Hospital Dona Estefânia. Métodos: Estudo retrospectivo dos doentes admitidos por atresia do esófago desde Janeiro 2002 a Dezembro 2013. As seguintes variáveis foram estudadas, considerando, idade gestacional, o peso à nascença, o sexo, tipo de atresia do esófago, ecocardiograma no pré-operatório, malformações associadas, abordagem cirúrgica, eventual ecocardiograma no pós-operatório e angioressonância. Resultados: De um total de 107 doentes, em cinco casos foi diagnosticada persistência da veia cava superior esquerda. Destes, apenas um tinha diagnostico pré-natal. A restante investigação revelou um doente com atresia duodenal e outro com malformação do aparelho urinário, coloboma e malformação bilateral dos pavilhões auriculares. Todos os cinco doentes foram submetidos a toracotomia, esofagoesofagostomia primária após laqueação da fístula traqueo-esofágica e angio-ressonância para caracterizar a malformação vascular. Não houve registo de complicações, quer intra-operatórias quer pós-operatórias. Conclusão: Apesar do estudo pré-operatório, apenas se diagnosticou persistência da veia cava superior esquerda num dos doentes. O diagnóstico é geralmente feito de forma incidental durante a colocação rotineira de catéteres venosos centrais à esquerda. É importante identificar estes doentes e caracterizar o seu padrão de retorno venoso cardíaco, pelo risco de complicações embó1icas paradoxais para o sistema arterial.
- Prostate Cancer: The Role of Multiparametric Magnetic Resonance ImagingPublication . Lopes Dias, J; Pina, J; João, R; Fialho, J; Carmo, S; Leal, C; Bilhim, T; Mateus Marques, R; Campos Pinheiro, LMultiparametric Magnetic Resonance Imaging has been increasingly used for detection, localization and staging of prostate cancer over the last years. It combines high-resolution T2 Weighted-Imaging and at least two functional techniques, which include Dynamic Contrast–Enhanced Magnetic Resonance Imaging, Diffusion-Weighted Imaging, and Magnetic Resonance Imaging Spectroscopy. Although the combined use of a pelvic phased-array and an Endorectal Coil is considered the state-of-the-art for Magnetic Resonance Imaging evaluation of prostate cancer, Endorectal Coil is only absolute mandatory for Magnetic Resonance Imaging Spectroscopy at 1.5 T. Sensitivity and specificity levels in cancer detection and localization have been improving with functional technique implementation, compared to T2 Weighted-Imaging alone. It has been particularly useful to evaluate patients with abnormal PSA and negative biopsy. Moreover, the information added by the functional techniques may correlate to cancer aggressiveness and therefore be useful to select patients for focal radiotherapy, prostate sparing surgery, focal ablative therapy and active surveillance. However, more studies are needed to compare the functional techniques and understand the advantages and disadvantages of each one. This article reviews the basic principles of prostatic mp-Magnetic Resonance Imaging, emphasizing its role on detection, staging and active surveillance of prostate cancer.
- Randomized Clinical Trial of Balloon Occlusion versus Conventional Microcatheter Prostatic Artery Embolization for Benign Prostatic HyperplasiaPublication . Bilhim, T; Costa, NV; Torres, D; Pisco, J; Carmo, S; Oliveira, APurpose: To compare balloon occlusion prostatic artery embolization (bPAE) with conventional microcatheter PAE (cPAE). Materials and methods: In this single-center trial, between November 2017 and November 2018, 89 patients with symptomatic benign prostatic hyperplasia were randomly assigned to cPAE (n = 43) or bPAE (n = 46). All patients received embolization with 300-500 μm Embosphere microspheres and were evaluated before and 1 and 6 months after PAE. Primary outcome measure was change from baseline in International Prostate Symptom Score (IPSS). Student t test was used for between-group comparisons of change from baseline, and paired t test was used for within-group comparisons. Results: At baseline, groups were identical (P > .05). Unilateral PAE was performed in 4 patients receiving cPAE and 3 patients receiving bPAE (9.30% and 6.52%, P = .708). Procedural and fluoroscopy times, dose area product, air kerma, embolic volume, and mean prostate-specific antigen (PSA) 24 hours after PAE did not differ between groups (P > .05). Coils were used in 6 patients receiving cPAE and 4 patients receiving bPAE (14.0% and 8.70%, P = .51). Assessments at 6 months after PAE showed mean IPSS reduction was 7.58 ± 6.88 after cPAE and 8.30 ± 8.12 after bPAE (P = .65); mean prostate volume reduction was 21.9 cm3 ± 51.6 (18.2%) after cPAE and 6.15 cm3 ± 14.6 (7.3%) after bPAE (P = .05); mean PSA reduction was 0.9 ng/mL ± 2.22 after cPAE and 0.22 ng/mL ± 1.65 after bPAE (P = .10). Penile skin lesions (n = 3) and rectal bleeding (n = 2) were documented only in patients receiving cPAE (11.9%, P = .01). No major adverse events occurred. Conclusions: bPAE is as effective as cPAE in treating benign prostatic hyperplasia with a potential to reduce nontarget embolization.
- The Utility of Apparent Diffusion Coefficient Values in the Risk Stratification of Prostate Cancer Using a 1.5 T Magnetic Resonance Imaging Without Endorectal CoilPublication . Lopes Dias, J; Magalhães Pina, J; Vasco Costa, N; Carmo, S; Leal, CPurpose: To evaluate the relationship between mean apparent diffusion coefficient (ADC) and post-surgical Gleason scores. To determine the diagnostic accuracy of multiparametric magnetic resonance imaging (mp-MRI) on a 1.5 T magnet in distinguishing low, intermediate and highgrade prostate tumors. Material and methods: This is a retrospective institutional-review-board-approved, singlecenter study including 30 patients (median age, 60 years) who underwent mp-MRI before prostatectomy for prostate cancer. Using histological reports for guidance, the tumors were localized in ADC maps, and mean ADCs were measured and examined for correlation with Gleason scores. 2 patients had 2 measurable foci, so a total of 32 tumors were studied. The diagnostic accuracy of the mean ADC was assessed by using the area under the receiver operating characteristic curve (ROC). Results: In the differentiation of tumors with a Gleason score of 6 from those with a Gleason score of at least 7, mean ADC yielded an AUC of 0.76 (95% confidence interval: 0.59, 0.93). In the differentiation of tumors with Gleason scores of 6 or 7 from those with a Gleason score of at least 8, mean ADC yielded an AUC of 0.94 (95% confidence interval: 0.86, 1.00). Conclusion: Mean ADC values may allow a correct assessment of the patient risk using a 1.5 T magnet without ERC.