Browsing by Author "Santos, S"
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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.
- Ambulatory Seton Placement Followed by Fistulotomy: Efficacy and Safety for Perianal Fistula TreatmentPublication . Gamelas, V; Santos, S; Loureiro, R; Seves, I; Costa Simões, J; Bettencourt, MJPurpose: To evaluate the efficacy and safety of ambulatory seton placement followed by superficial fistulotomy as treatment of perianal fistula. Methods: Retrospective observational analysis of patients with cryptogenic perianal fistula aged 18-90 years, followed in a central hospital proctology consultation between 2006 and 2017. Data were obtained through clinical record's analysis. Fistula was characterized, using Parks Classification. A probe was passed through the fistula tract, followed by a seton, which remained in situ until superficial fistulotomy was possible. Results: Ninety-six patients were included (66.67% males, mean age 56 ± 15 years old). Nineteen patients (19.89%) had previous history of perianal fistula and 14 (14.58%) previous anorectal surgery. Seventy-four patients (78.72%) were submitted to fistulotomy, three (3.19%) had seton fistulotomy and one had no seton progression. Intention-to-treat and per-protocol efficacy analyses were 80.2 and 98.7%, respectively. Among the 74 patients who completed the procedure, type of fistula and time with seton were distributed as followed: 47 (63.51%) intersphincteric fistula (15 ± 31 weeks), 26 (35.14%) transsphincteric fistula (32 ± 47 weeks), one (1.35%) suprasphincteric fistula (11 weeks). Previous fistula was associated with a longer time with seton (P = 0.018). Incontinence was reported in two (2.7%) patients, who had previous perianal fistula or anorectal surgery. Two patients (2.7%) had recurrence after fistulotomy. Conclusion: Placement of seton followed by superficial fistulotomy in an ambulatory setting is a safe and effective method for simple low perianal fistula treatment. Incontinence rate may be higher in patients with previous perianal fistula or anorectal surgery.
- Antibiotics Utilization Ratio in a NicuPublication . Rodrigues, V; Santos, S; Maia, R; Neto, MT; Serelha, MIntroduction: Antibiotics are one of the most common prescribed drugs in the NICU; despite this, studies on its use are scarce. Aim: To assess antibiotics utilization ratio in a medical surgical NICU. Methods: Prospective, observational study. Daily registry of antibiotics given to newborn infants; two periods of two months, 2010; data collected every day after the second medical round. Variables: treated patients, days on antibiotics, treatment/patient days, number of courses, number of antibiotics. Antibiotics utilization ratio – ratio days on antibiotics/days at the NICU. Results: Patients enrolled - 113; admission days – 1722; length of stay - 15.2 days; 85 newborn infants were given antibiotics; days on antibiotics - 771; antibiotics utilization ratio – 44.8; 292 antibiotics were prescribed; 61.8% of patients were given more than two antibiotics and 15.3% had more than one course. The most frequents were gentamicin, cefotaxime, ampicillin, vancomycin and metronidazole. Conclusion: Antibiotics utilization ratio should be subject of audits and a quality criteria on NICUs evaluation.
- Benefícios da Terapêutica de Ressincronização Cardíaca na «Miocardiopatia Muito Dilatada»Publication . Lousinha, A; Oliveira, MM; Feliciano, J; Galrinho, A; Branco, LM; Silva Cunha, P; Hamad, H; Ramos, R; Abreu, J; Leal, A; Santos, S; Soares, RM; Nogueira da Silva, M; Cruz Ferreira, RINTRODUCTION: Recent clinical trials have studied parameters that could predict response to cardiac resynchronization therapy (CRT) in patients with advanced heart failure. Left ventricular end-diastolic dimension (LVEDD) is regarded as a possible predictor of response to CRT. OBJECTIVE: To study the response to CRT in patients with very dilated cardiomyopathy, i.e. those at a more advanced stage of the pathology, analyzing both the responder rate and reverse remodeling in two groups of patients classified according to LVEDD. METHODS: We performed a retrospective analysis of 71 patients who underwent CRT (aged 62 +/- 11 years; 65% male; 93% in NYHA functional class > or = III; 31% with ischemic cardiomyopathy; left ventricular ejection fraction [LVEF] 25.6 +/- 6.8%; 32% in atrial fibrillation; QRS 176 +/- 31 ms). Twenty-two (31%) patients with LVEDD > or = 45 mm/m2 (49.2 +/- 3.5 mm/m2) were considered to have very dilated cardiomyopathy (Group A) and 49 patients had LVEDD > 37 mm/m2 and < 45 mm/m2 (39.4 +/- 3.8 mm/m2) (Group B). All patients were assessed by two-dimensional echocardiography at baseline and six months after CRT. The following parameters were analyzed: NYHA functional class, LVEF and LVEDD. Responders were defined clinically (improvement of > or = 1 NYHA class) and by echocardiography, with a minimum 15% increase over baseline LVEF combined with a reduction in LVEDD (reverse remodeling). RESULTS: There were no significant differences in baseline demographic characteristics between the two groups. At six-month followup, we observed an improvement in LVEF (delta 8.5 +/- 11.8%) and a reduction in LVEDD (delta 3.7 +/- 6.8 mm/m2), with fifty-seven (79%) patients being classified as clinical responders. The percentage of patients with reverse remodeling was similar in both groups (64% vs. 73%, p = NS), as were percentages of improved LVEF (delta 6.3 +/- 11% vs. delta 9.6 +/- 12%; p = NS) and decreased LVEDD (delta 3.7 +/- 5.5 mm/m2 vs. delta 3.7 +/- 7.4 mm/m2; p = NS). We found a higher percentage of clinical responders in patients with very dilated cardiomyopathy (96% vs. 72%, p < 0.05). CONCLUSION: In this study, a significant number of responders showed reverse remodeling after CRT. Although a higher percentage of patients with very dilated cardiomyopathy showed improvement in functional class, the extent of reverse remodeling was similar in both groups.
- Bevacizumab for Refractory Gastrointestinal Bleeding in Rendu-Osler-Weber DiseasePublication . Bernardes, C; Santos, S; Loureiro, R; Borges, V; Ramos, GRendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder which is often characterized by recurrent epistaxis, mucocutaneous and gastrointestinal telangiectasias, and visceral arteriovenous malformations. Patients with gastrointestinal involvement can present with a wide spectrum of severity, which may vary from uncomplicated iron deficiency anemia to continuous and refractory bleeding. We present the case of a 62-year-old female, who was admitted with anemia following several episodes of melena, and whose endoscopic examination revealed multiple angiodysplasias in the stomach and small bowel. Despite endoscopic and medical treatment attempts with hormonal agents and octreotide, she developed persistent hemorrhage and severe anemia, requiring frequent red blood cell transfusions. Immediately after initiating bevacizumab (7.5 mg/kg, every 3 weeks), complete cessation of bleeding episodes was observed. Currently, after 1 year of follow-up, she maintained sustained remission without the occurrence of adverse events.
- Cytomegalovirus Colitis Mimicking Rectal Tumour in an Undiagnosed HIV PatientPublication . Rocha, M; Borges, V; Simões, G; Santos, S; Gamelas, V; Bernardes, CIntroduction: Cytomegalovirus (CMV) is the most common opportunistic agent in HIV-infected patients. It can affect the entire gastrointestinal tract, but frequently involves the oesophagus and the colon. Case Report: We report the case of a 70-year-old female, ultimately diagnosed with HIV infection, whose inaugural clinical manifestation was CMV colitis with endoscopic findings resembling a rectal tumour in which initial histological evaluation was not able to provide a proper diagnosis. Discussion/Conclusion: Since clinical presentation is variable and histopathological yield without immunohistochemical analysis is poor, recognizing CMV infection in the absence of known risk factors may be difficult. It is crucial to consider this entity with suspicious lesions or when initial evaluation, either clinical or histopathological, is inconclusive, thus avoiding potentially debilitating and superfluous treatment or life-threatening complications.
- Desporto Adaptado no Bem-Estar Psicológico do Lesionado MedularPublication . Cruz, A; Santos, S; Margalho, P; Laíns, JObjetivos: O presente estudo tem como objetivo avaliar o efeito do desporto adaptado no bem-estar psicológico de pacientes com lesões medulares (LM). Material e Métodos: O estudo desenvolvido é de natureza quantitativa e transversal. A amostra é constituída por um total de 28 participantes, sendo um dos grupos formado por 11 LM em fase crónica que praticam atualmente desporto adaptado de competição. O outro grupo é composto por uma população similar de LM em fase crónica, que não realizava desporto adaptado, mas com capacidade de manobrar cadeira de rodas de forma independente. Como instrumento de medida, utilizou-se o questionário de manifestação de bem-estar psicológico (no original, Échelle de Mesure des Manifestations du Bien-Être Psychologique - EMMBEP). Este é formado por um conjunto de 25 itens, que numa escala de Likert (de 1 - nunca a 5 - quase sempre) avalia o bem-estar psicológico. A cotação deste instrumento de medida varia entre 25-125 pontos, sendo o bem-estar individual maior quanto maior a pontuação obtida. Estudos psicométricos para a versão portuguesa demonstraram a sua fiabilidade. Resultados: Através da aplicação do teste t de Student para amostras independentes foi possível verificar que os grupos em comparação apresentam entre si diferenças estatisticamente significativas (considerando p < 0,05) nos níveis do bem-estar psicológico. Constatou-se que, quer ao nível das dimensões específicas, quer ao nível global, os participantes que compõem o grupo de doentes crónicos com prática de desporto adaptado apresentam pontuações médias significativamente superiores quando comparados com os sujeitos que compõem o grupo sem prática de desporto adaptado. Conclusões: A incorporação em equipas de desporto adaptado apresenta a capacidade de produzir um incremento no bem-estar psicológico de pacientes com LM. Neste âmbito, é importante a atenção e o alerta do clínico na orientação que pode fazer a estes doentes para a realização de desporto.
- Dispersão da Refractariedade Auricular como Substrato Electrofisiológico da Vulnerabilidade Auricular em Doentes com Fibrilhação Auricular ParoxísticaPublication . Oliveira, MM; Nogueira da Silva, M; Timóteo, AT; Feliciano, J; Sousa, L; Santos, S; Marques, F; Cruz Ferreira, RAtrial electrical remodeling plays a part in recurrence of atrial fibrillation (AF). It has been related to an increase in heterogeneity of atrial refractoriness that facilitates the occurrence of multiple reentry wavelets and vulnerability to AF. AIM: To examine the relationship between dispersion of atrial refractoriness (Disp_A) and vulnerability to AF induction (A_Vuln) in patients with clinical paroxysmal AF (PAF). METHODS: Thirty-six patients (22 male; age 55+/-13 years) with > or =1 year of history of PAF (no underlying structural heart disease--n=20, systemic hypertension--n=14, mitral valve prolapse--n=1, surgically corrected pulmonary stenosis--n=1), underwent electrophysiological study (EPS) while off medication. The atrial effective refractory period (AERP) was assessed at five different sites--high (HRA) and low (LRA) lateral right atrium, high interatrial septum (IAS), proximal (pCS) and distal (dCS) coronary sinus--during a cycle length of 600 ms. AERP was taken as the longest S1-S2 interval that failed to initiate a propagation response. Disp_A was calculated as the difference between the longest and shortest AERP. A_Vuln was defined as the ability to induce AF with 1-2 extrastimuli or with incremental atrial pacing (600-300 ms) from the HRA or dCS. The EPS included analysis of focal electrical activity based on the presence of supraventricular ectopic beats (spontaneous or with provocative maneuvers). The patients were divided into group A--AF inducible (n=25) and group B--AF not inducible (n=11). Disp_A was analyzed to determine any association with A_Vuln. Disp_A and A_Vuln were also examined in those patients with documented repetitive focal activity. Logistic regression was used to determine any association of the following variables with A_Vuln: age, systemic hypertension, left ventricular hypertrophy, left atrial size, left ventricular function, duration of PAF, documented atrial flutter/tachycardia and Disp_A. RESULTS: There were no significant differences between the groups with regard to clinical characteristics and echocardiographic data. AF was inducible in 71% of the patients and noninducible in 29%. Group A had greater Disp_A compared to group B (105+/-78 ms vs. 49+/-20 ms; p=0.01). Disp_A was >40 ms in 50% of the patients without A_Vuln and in 91% of those with A_Vuln (p=0.05). Focal activity was demonstrated in 14 cases (39%), 57% of them with A_Vuln. Disp_A was 56+/-23 ms in this group and 92+/-78 ms in the others (p=0.07). Using logistic regression, the only predictor of A_Vuln was Disp_A (p=0.05). CONCLUSION: In patients with paroxysmal AF, Disp_A is a major determinant of A_Vuln. Nevertheless, the degree of nonuniformity of AERP appears to be less important as an electrophysiological substrate for AF due to focal activation.
- A Double Philadelphia Chromosome-Positive Chronic Myeloid Leukemia Patient, Co-Expressing P210 BCR-ABL1 and P195 BCR-ABL1 IsoformsPublication . Vinhas, R; Lourenço, A; Santos, S; Ribeiro, P; Silva, M; Botelho de Sousa, A; Baptista, P; Fernandes, A
- Effects of Acute Autonomic Modulation on Atrial Conduction Delay and Local Electrograms Duration in Paroxysmal Atrial FibrillationPublication . Oliveira, MM; Nogueira da Silva, M; Cunha, P; Ramos, R; Marques, F; Santos, S; Rocha, I; Silva-Carvalho, L; Cruz Ferreira, RSlowed atrial conduction may contribute to reentry circuits and vulnerability for atrial fibrillation (AF). The autonomic nervous system (ANS) has modulating effects on electrophysiological properties. However, complex interactions of the ANS with the arrhythmogenic substrate make it difficult to understand the mechanisms underlying induction and maintenance of AF. AIM: To determine the effect of acute ANS modulation in atrial activation times in patients (P) with paroxysmal AF (PAF). METHODS AND RESULTS: 16P (9 men; 59±14years) with PAF, who underwent electrophysiological study before AF ablation, and 15P (7 men; 58±11years) with atrioventricular nodal reentry tachycardia, without documentation or induction of AF (control group). Each group included 7P with arterial hypertension but without underlying structural heart disease. The study was performed while off drugs. Multipolar catheters were placed at the high right atrium (HRA), right atrial appendage (RAA), coronary sinus (CS) and His bundle area (His). At baseline and with HRA pacing (600ms, shortest propagated S2) we measured: i) intra-atrial conduction time (IACT, between RAA and atrial deflection in the distal His), ii) inter-atrial conduction time (interACT, between RAA and distal CS), iii) left atrial activation time (LAAT, between atrial deflection in the distal His and distal CS), iv) bipolar electrogram duration at four atrial sites (RAA, His, proximal and distal CS). In the PAF group, measurements were also determined during handgrip and carotid sinus massage (CSM), and after pharmacological blockade of the ANS (ANSB). AF was induced by HRA programmed stimulation in 56% (self-limited - 6; sustained - 3), 68.8% (self-limited - 6; sustained - 5), and 50% (self-limited - 5; sustained - 3) of the P, in basal, during ANS maneuvers, and after ANSB, respectively (p=NS). IACT, interACT and LAAT significantly lengthened during HRA pacing in both groups (600ms, S2). P with PAF have longer IACT (p<0.05), a higher increase in both IACT, interACT (p<0.01) and electrograms duration (p<0.05) with S2, and more fragmented activity, compared with the control group. Atrial conduction times and electrograms duration were not significantly changed during ANS stimulation. Nevertheless, ANS maneuvers increased heterogeneity of the local electrograms duration. Also, P with sustained AF showed longer interACT and LAAT during CSM. CONCLUSION: Atrial conduction times, electrograms duration and fractionated activity are increased in PAF, suggesting a role for conduction delays in the arrhythmogenic substrate. Acute vagal stimulation is associated with prolonged interACT and LAAT in P with inducible sustained AF and ANS modulation may influence the heterogeneity of atrial electrograms duration.