A 63-Year-Old Woman Presenting with a Synovial Sarcoma of the Hand: a Case Report

INTRODUCTION: Synovial sarcoma is a high-grade, soft-tissue sarcoma that most frequently is located in the vicinity of joints, tendons or bursae, although it can also be found in extra-articular locations. Most patients with synovial sarcoma of the hand are young and have a poor prognosis, as these tumors are locally aggressive and are associated with a relatively high metastasis rate. According to the literature, local recurrence and/or metastatic disease is found in nearly 80% of patients. Current therapy comprises surgery, systemic and limb perfusion chemotherapy, and radiotherapy. However, the 5-year survival rate is estimated to be only around 27% to 55%. Moreover, most authors agree that synovial sarcoma is one of the most commonly misdiagnosed malignancies of soft tissues because of their slow growing pattern, benign radiographic appearance, ability to change size, and the fact that they may elicit pain similar to that caused by common trauma. CASE PRESENTATION: We describe an unusual case of a large synovial sarcoma of the hand in a 63-year-old Caucasian woman followed for 12 years by a multidisciplinary team. In addition, a literature review of the most pertinent aspects of the epidemiology, diagnosis, treatment and prognosis of these patients is presented. CONCLUSION: Awareness of this rare tumor by anyone dealing with hand pathology can hasten diagnosis, and this, in turn, can potentially increase survival. Therefore, a high index of suspicion for this disease should be kept in mind, particularly when evaluating young people, as they are the most commonly affected group.

Results of Endovascular Procedures Performed in Dysfunctional Arteriovenous Accesses for Haemodialysis

Aim. Percutaneous endovascular procedures have become the standard treatment of arteriovenous fistulae and graft stenosis. This study evaluates the immediate results of angiographic procedures performed by nephrologists in patients with dysfunctional arteriovenous fistulae and arteriovenous graft stenosis. Patients and Methods. A retrospective analysis was performed on patients referred to the three Interventional Nephrology units between April and June, 2010. Clinical data were recorded. Results. A total of 113 procedures were performed: 59 in arteriovenous fistulae and 54 in arteriovenous graft stenosis. The main reasons for referral were increased venous pressure (21%), limb oedema (21%) and decreased intra-access flow (20%). Stenoses were detected in 85% of the procedures, mostly in patients with arteriovenous graft stenosis (56%). The main locations of stenosis were the outflow vein (cephalic/basilic) in arteriovenous fistulae (34%) and venous anastomosis in arteriovenous graft stenosis(48%). Angioplasty was performed in 73% of procedures where stenoses were detected. The immediate success rate was 91% for arteriovenous fistulae and 83% for arteriovenous graft stenosis. Partial success was obtained in 11% of angiographies. The complication rate was 7%. Conclusions. Physical examination findings led, in at least half the cases, to angiography referral and enabled the diagnosis and treatment of stenoses. For this reason, we advocate that this tool should be included in any vascular access monitoring programme. Our results support the safety of these procedures performed by nephrologists and their efficacy in the recovery of dysfunctional arteriovenous fistulae and arteriovenous graft stenosis.

Primary Disorders of Neurotransmitter Metabolism: Experience of a Tertiary Center

Neurotransmitter diseases are a group of inherited disorders attributable to a disturbance of neurotransmitter metabolism. Biogenic amines are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular, respiratory and gastrointestinal control, sleep mechanisms, body temperature and pain. Given the multiple functions of monoamines, disorders of their metabolism comprise a wide spectrum of manifestations, with motor dysfunction being the most prominent clinical feature. Methods: Case review of 12 patients from 4 families, with primary disorders of biogenic amine metabolism. Results: Aromatic L-amino acid decarboxylase deficiency (4 patients from 2 families), and GTP-cyclohydrolase (8 patients from 2 families) were the two diseases identified. Age at first symptoms varied between 2 months and 6 years. Developmental delay was present in all cases except 2 patients with GTP cyclohydrolase deficiency. The combination of axial hypotonia and limb dystonia was also frequent. Children with aromatic L-amino acid decarboxylase deficiency exhibited temperature instability, oculogyric crisis and disturbances of sleep. The index case of one family with GTP cyclohydrolase deficiency presented with Parkinsonism (bradykinesia, rigidity and hypomimia). Analysis of neurotransmitters and their metabolites in CSF was crucial for the identification of index cases. Response to therapy was variable but in general unsatisfactory except in a family with GTP cyclohydrolase deficiency. Conclusions: These disorders should be considered in the differential diagnosis of paediatric neurodegenerative diseases, in order to allow an adequate therapeutic trial that can favor prognosis.

Sciatic Nerve High Division: Two Different Anatomical Variants

Introduction: Sciatic nerve variations are relatively common. These variations are often very significant in several fields of Medicine. The purpose of this paper is to present two such variants and discuss their clinical implications. Material and Methods: Three Caucasian cadavers with no prior history of lower limb trauma or surgery were dissected and found to present anatomical variants of the sciatic nerve. Results: In all cases the sciatic nerve divided above the popliteal fossa. In two cases (cadavers 1 and 2) it divided on both sides in the inferior portion of the gluteal region in its two terminal branches: the common fibular and the tibial nerves. In another case (cadaver 3) the sciatic nerve was found to divide inside the pelvis just before coursing the greater sciatic notch. The common fibular nerve exited the pelvis above the pyriformis muscle and then passed along its posterior aspect, while the tibial nerve coursed deep to the pyriformis muscle. Discussion: According to the literature, the anatomical variant described in cadaver 3 is considered relatively rare. This variant can predispose to nerve entrapment and thus to the pyriformis syndrome, sciatica and coccygodynia. The high division of the sciatic nerve, as presented in cadavers 1 and 2, can make popliteal nerve blocks partially ineffective. Conclusion: The anatomical variants associated with a high division of the sciatic nerve, must always be born in mind, as they are relatively prevalent, and have important clinical implications, namely in Anesthesiology, Neurology, Sports Medicine and Surgery.

Inferior Vena Cava Filter Placement During Pregnancy: an Adjuvant Option When Medical Therapy Fails

The authors present a case of a 27-year-old multiparous woman, with multiple thrombophilia, whose pregnancy was complicated with deep venous thrombosis requiring placement of a vena cava filter. At 15th week of gestation, following an acute deep venous thrombosis of the right inferior limb, anticoagulant therapy with low-molecular-weight heparin (LMWH) was instituted without improvement in her clinical status. Subsequently, at 18 weeks of pregnancy, LMWH was switched to warfarin. At 30th week of gestation, the maintenance of high thrombotic risk was the premise for placement of an inferior vena cava filter for prophylaxis of pulmonary embolism during childbirth and postpartum. There were no complications and a vaginal delivery was accomplished at 37 weeks of gestation. Venal placement of inferior vena cava filters is an attractive option as prophylaxis for pulmonary embolism during pregnancy.

Septic Arthritis Presenting as Brachial Plexus Neurophaty

Bone and joint infections are rare in the neonatal period. They often present with pseudo paralysis of the affected limb due to pain and discomfort caused by movement. The existence of a concomitant neuropathy is a rare and insuffi ciently understood phenomenon with few cases described. The authors report the case of a 7-week infant, born prematurely and with Staphylococcus aureus neonatal sepsis, who presented to the emergency room with a paretic right upper limb. Osteoarticular infection complicated with brachial plexus neuropathy was considered and MRI and electromyography the confi rmed diagnosis. There was a good outcome after antibiotic treatment and functional rehabilitation.

Incontinentia Pigmenti in the Neonatal Period

Incontinentia pigmenti (IP) is a rare multisystem disease, X linked dominant disorder. As all X linked dominant diseases, it is usually male-lethal. Female newborn admitted to the neonatal intensive care unit on the fi rst day of life was diagnosed as having probable herpetic infection with vesicular skin lesions distributed on upper right limb and inferior limbs. Family history showed that her 22-year-old mother had hypopigmented lesions on the lower limbs and her 13-month-old sister had hyperpigmented lesions on the trunk and limbs. In newborns, herpes infection emerges as the principal diagnosis of vesicular rash, due to the importance of precocious diagnosis and treatment. Other hypothesis must be considered in a newborn with vesicobullous rash, such as IP.

Sulfite Oxidase Deficiency – An Unusual Late and Mild Presentation

Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. Most patients develop dislocated ocular lenses. Later or milder presentations of SOD are being reported with increasing frequency. These presentations include neurological regression with loss of previously acquired milestones or movement disorders. Case report: We report a four years old girl presenting with intermittent ataxia and uncoordinated limb movements. A similar episode of ataxia had occurred previously, one year before, with complete neurologic recovery and normal developmental milestones. Bilateral lens dislocation had been recently diagnosed. Cranial MRI demonstrated bilateral globus pallidus enhancement. Low homocysteine was found in plasma and SulfitestR was positive. Further investigations led to confirmation of isolated sulfite oxidase deficiency with no enzyme activity detected on skin fibroblasts culture. Discussion: This case illustrates the clinical variability of SOD and it is not only atypical but also seems to be the mildest form described so far. The association of ectopia lentis with a movement disorder, even without psychomotor regression, should prompt us to look for this diagnosis.

INTERFERON BETA-1A TREATMENT IN HTLV-1-ASSOCIATED MYELOPATHY/TROPICAL SPASTIC PARAPARESIS: A CASE REPORT

Here a young patient (< 21 years of age) with a history of infective dermatitis is described. The patient was diagnosed with myelopathy associated with HTLV-1/tropical spastic paraparesis and treated with interferon beta-1a. The disease was clinically established as HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), and laboratory tests confirmed the presence of antibodies to HTLV-1 in the cerebrospinal fluid (CSF). Mumps, cytomegalovirus, Epstein-Barr virus, schistosomiasis, herpes virus 1 and 2, rubella, measles, varicella-zoster toxoplasmosis, hepatitis, HIV, and syphilis were excluded by serology. The patient was diagnosed with neurogenic bladder and presented with nocturia, urinary urgency, paresthesia of the lower left limb, a marked reduction of muscle strength in the lower limbs, and a slight reduction in upper limb strength. During the fourth week of treatment with interferon beta-1a, urinary urgency and paresthesia disappeared and clinical motor skills improved.

Breast Cancer Presents With a Paraneoplastic Neurologic Syndrome

BACKGROUND: Paraneoplastic neurologic syndromes (PNS) pose quite an uncommon neurological complication, affecting less than 1% of patients with breast cancer. Nearly one third of these patients lack detectable onconeural antibodies (ONAs), and improvement in neurologic deficits with concomitant cancer treatments is achieved in less than 30% of cases. CASE PRESENTATION: A 42-year-old, premenopausal woman presented with facial paralysis on the central left side accompanied by a left tongue deviation, an upward vertical nystagmus, moderate spastic paraparesis, dystonic posturing of the left foot, lower limb hyperreflexia and bilateral extensor plantar reflex. After ruling out all other potential neurologic causes, PNS was suspected but no ONAs were found. A PET-CT scan detected increased metabolism in the right breast, as well as an ipsilateral thoracic interpectoral adenopathy. Core biopsy confirmed the presence of an infiltrating duct carcinoma. After breast surgery, the neurologic symptoms disappeared. One week later, the patient was readmitted to the hospital with a bilateral fatigable eyelid ptosis, and two weeks later, there was a noticeable improvement in eyelid ptosis, accompanied by a rapid and progressive development of lower spastic paraparesis. She started adjuvant treatment with chemotherapy with marked clinical and neurological improvement, and by the end of radiotherapy, there were no signs of neurologic impairment. CONCLUSION: This case study highlights the importance of a high level of vigilance for the detection of PNS, even when ONAs are not detected, as the rapid identification and treatment of the underlying tumor offers the best chance for a full recovery.

Atypical Phenotype in Two Patients with LAMA2 Mutations

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients underwent clinical, histopathological, imaging and genetic studies. Both cases have two heterozygous LAMA2 variants sharing a potentially pathogenic missense mutation c.2461A>C (p.Thr821Pro) located in exon 18. Brain MRI was instrumental for the diagnosis, since muscular examination and motor achievements were normal in the first patient and there was a severe cardiac involvement in the second. The clinical phenotype of the patients is markedly different which could in part be explained by the different combination of mutations types (two missense versus a missense and a truncating mutation).

Amputações de Membros Efectuadas nos Hospitais do Serviço Nacional de Saúde nos Anos de 1990 a 1993

Foi objectivo deste trabalho obter uma panorâmica sobre amputações de membros efectuadas em Portugal nos Hospitais do Serviço Nacional de Saúde num período de quatro anos (1990 a 1993), analisando-se a sua distribuição por etiologias e sexo, idade média, demora média de internamento, nível de amputação e taxa de mortalidade. Os autores destacam ainda os níveis de amputação mais favoráveis para uma reabilitação eficaz.

Familial Abdominal Aortic Aneurysm Is Associated With More Complications After Endovascular Aneurysm Repair

OBJECTIVE: A familial predisposition to abdominal aortic aneurysms (AAAs) is present in approximately one-fifth of patients. Nevertheless, the clinical implications of a positive family history are not known. We investigated the risk of aneurysm-related complications after endovascular aneurysm repair (EVAR) for patients with and without a positive family history of AAA. METHODS: Patients treated with EVAR for intact AAAs in the Erasmus University Medical Center between 2000 and 2012 were included in the study. Family history was obtained by written questionnaire. Familial AAA (fAAA) was defined as patients having at least one first-degree relative affected with aortic aneurysm. The remaining patients were considered sporadic AAA. Cardiovascular risk factors, aneurysm morphology (aneurysm neck, aneurysm sac, and iliac measurements), and follow-up were obtained prospectively. The primary end point was complications after EVAR, a composite of endoleaks, need for secondary interventions, aneurysm sac growth, acute limb ischemia, and postimplantation rupture. Secondary end points were specific components of the primary end point (presence of endoleak, need for secondary intervention, and aneurysm sac growth), aneurysm neck growth, and overall survival. Kaplan-Meier estimates for the primary end point were calculated and compared using log-rank (Mantel-Cox) test of equality. A Cox-regression model was used to calculate the independent risk of complications associated with fAAA. RESULTS: A total of 255 patients were included in the study (88.6% men; age 72 ± 7 years, median follow-up 3.3 years; interquartile range, 2.2-6.1). A total of 51 patients (20.0%) were classified as fAAA. Patients with fAAA were younger (69 vs 72 years; P = .015) and were less likely to have ever smoked (58.8% vs 73.5%; P = .039). Preoperative aneurysm morphology was similar in both groups. Patients with fAAA had significantly more complications after EVAR (35.3% vs 19.1%; P = .013), with a twofold increased risk (adjusted hazard ratio, 2.1; 95% confidence interval, 1.2-3.7). Secondary interventions (39.2% vs 20.1%; P = .004) and aneurysm sac growth (20.8% vs 9.5%; P = .030) were the most important elements accounting for the difference. Furthermore, a trend toward more type I endoleaks during follow-up was observed (15.6% vs 7.4%; P = .063) and no difference in overall survival. CONCLUSIONS: The current study shows that patients with a familial form of AAA develop more aneurysm-related complications after EVAR, despite similar AAA morphology at baseline. These findings suggest that patients with fAAA form a specific subpopulation and create awareness for a possible increase in the risk of complications after EVAR.

Caracterização da actividade física nos idosos e a sua relação com a capacidade física, em pessoas com mais de 75 anos

RESUMO: Objectivo: O presente estudo tem como objectivo caracterizar os níveis de actividade física das pessoas com mais de 75 anos e analisar a sua relação com as diferentes componentes da aptidão física. Enquadramento: A actividade física é indispensável para todos mas, os idosos é quem mais beneficia (Fischer, 2005). Actua na prevenção e na reabilitação, fortalecendo a aptidão física, e a autonomia do idoso, permitindo manter, por mais tempo, a capacidade de execução das actividades de vida diárias (Shephard, 2003). A prática de actividade física contribui por exemplo, para a prevenção de quedas, reforçando a aptidão física e o equilíbrio postural. Por outro lado, o baixo nível de aptidão física repercute-se no aumento da actividade sedentária. Os homens têm uma adesão à actividade física de 45% e as mulheres de 28% (Melo et. al., 2007). Métodos: Este é um estudo observacional, correlacional e transversal. Foram avaliados 66 participantes (média de idade de 80,11 ± 3,83 anos), não institucionalizados. O processo de amostragem foi não probabilístico acidental por conveniência. Todos os idosos deram o seu consentimento informado. A actividade física foi avaliada através do questionário do Yale Physical Activity Survey, e foi desenvolvido um diário, para uma semana-tipo, para averiguar os hábitos de actividades diárias, nas últimas quatro semanas. A aptidão física foi avaliada pela bateria de testes de Rikli e Jones (1999),nomeadamente a força, a flexibilidade, a resistência aeróbia e a agilidade e equilíbrio. Os dados foram analisados através da estatística descritiva e para averiguar as possíveis associações entre a actividade física e a aptidão física, recorreu-se á estatística inferencial. Não tendo sido verificada a normalidade da amostra com o teste kolmogorov-smirnov, foram utilizados testes não paramétricos, nomeadamente o teste U Mann – Whitney e o coeficiente de correlação de Spearman (p≤0,05). Resultados: Constatou-se que os idosos em média praticavam 480, 23 minutos por semana de actividade moderada, cerca 11,04% do seu tempo, superior ao recomendado pela literatura (>150 minutos por semana). A actividade física moderada apresentou relações positivas com a aptidão física, na força dos membros inferiores, na resistência aeróbia e na agilidade e equilíbrio. Os homens têm maior agilidade e equilíbrio (p=0,002) e força dos membros inferiores (p=0,025) que as mulheres. Os homens passam mais tempo em actividade moderada do que as mulheres. Ainda superam no gasto energético em cada actividade que praticam durante a semana. As mulheres passam mais tempo em actividade sedentária e actividade ligeira. Conclusão: Quanto mais tempo de prática de actividade física moderada melhor a força dos membros inferiores, a resistência aeróbia, a agilidade e o equilíbrio dinâmico. Recomenda-se uma reflexão sobre a possível intervenção na estruturação das actividades diárias do idoso e uma intervenção mais direccionada às idosas, na força do membro inferior, na agilidade e na resistência aeróbia.----------------------- ABSTRACT:Purpose: The present study aims to characterize the physical activity levels of people over 75 years and analyze their relationship with the different components of physical fitness. Background: Physical activity is essential for all but the elderly who are more benefit (Fischer, 2005). It works on prevention and rehabilitation, strengthening physical fitness,and independence of older people, maintaining, for longer, the ability to implement the activities of daily living (Shephard, 2003). The physical activity contributes for example, for the prevention of falls by strengthening physical fitness and postural balance. Moreover, the low level of physical fitness level is reflected in the increase of sedentary activity. Men have an adherence to physical activity of 45% and women 28% (Melo et. al, 2007) Methods: This was an observational, cross-sectional and correlational. We evaluated 66 participants (mean age 80.11 ± 3.83 years), not institutionalized. The sampling procedure was non accidental probabilistic convenience. All seniors gave their informed consent. Physical activity was assessed by questionnaire at the Yale Physical Activity Survey was developed and a diary-type for a week, to ascertain the habits of daily activities in the last four weeks. Physical fitness was assessed by the battery of tests Rikli and Jones (1999), including strength, flexibility, endurance and agility and balance. Data were analyzed using descriptive statistics and to investigate possible associations between physical activity and physical fitness, we used will inferential statistics. Not having been verified the sample normality with Kolmogorov-Smirnov test, we used non-parametric tests, including the test U Mann - Whitney and Spearman correlation coefficient (p ≤ 0.05). Results: It was found that older people on average practiced 480, 23 minutes per week of moderate activity, about 11,04% of the time, higher than recommended in the literature (> 150 minutes per week). A moderate physical activity had positive correlations with physical fitness, lower limb strength, endurance and aerobic agility and balance. Men have greater agility and balance (p = 0.002) and lower-limb strength (p = 0.025) than women. Men spend more time in moderate activity than women. Still outweigh the energy expenditure for each activity they practice during the week. Women spend more time in sedentary activity and light activity. Conclusion: The more practice time in moderate physical activity best lower-limb strength,aerobic resistance, agility and dynamic balance. It is recommended that a reflection on the possible intervention in structuring the daily activities of the elderly and a more targeted to the woman elderly, especially lower limb strength, agility and endurance.

Clinical Outcome and Morphologic Determinants of Mural Thrombus in Abdominal Aortic Endografts

OBJECTIVE:Endograft mural thrombus has been associated with stent graft or limb thrombosis after endovascular aneurysm repair (EVAR). This study aimed to identify clinical and morphologic determinants of endograft mural thrombus accumulation and its influence on thromboembolic events after EVAR. METHODS: A prospectively maintained database of patients treated by EVAR at a tertiary institution from 2000 to 2012 was analyzed. Patients treated for degenerative infrarenal abdominal aortic aneurysms and with available imaging for thrombus analysis were considered. All measurements were performed on three-dimensional center-lumen line computed tomography angiography (CTA) reconstructions. Patients with thrombus accumulation within the endograft's main body with a thickness >2 mm and an extension >25% of the main body's circumference were included in the study group and compared with a control group that included all remaining patients. Clinical and morphologic variables were assessed for association with significant thrombus accumulation within the endograft's main body by multivariate regression analysis. Estimates for freedom from thromboembolic events were obtained by Kaplan-Meier plots. RESULTS: Sixty-eight patients (16.4%) presented with endograft mural thrombus. Median follow-up time was 3.54 years (interquartile range, 1.99-5.47 years). In-graft mural thrombus was identified on 30-day CTA in 22 patients (32.4% of the study group), on 6-month CTA in 8 patients (11.8%), and on 1-year CTA in 17 patients (25%). Intraprosthetic thrombus progressively accumulated during the study period in 40 patients of the study group (55.8%). Overall, 17 patients (4.1%) presented with endograft or limb occlusions, 3 (4.4%) in the thrombus group and 14 (4.1%) in the control group (P = .89). Thirty-one patients (7.5%) received an aortouni-iliac (AUI) endograft. Two endograft occlusions were identified among AUI devices (6.5%; overall, 0.5%). None of these patients showed thrombotic deposits in the main body, nor were any outflow abnormalities identified on the immediately preceding CTA. Estimated freedom from thromboembolic events at 5 years was 95% in both groups (P = .97). Endograft thrombus accumulation was associated with >25% proximal aneurysm neck thrombus coverage at baseline (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1-3.3), neck length ≤ 15 mm (OR, 2.4; 95% CI, 1.3-4.2), proximal neck diameter ≥ 30 mm (OR, 2.4; 95% CI, 1.3-4.6), AUI (OR, 2.2; 95% CI, 1.8-5.5), or polyester-covered stent grafts (OR, 4.0; 95% CI, 2.2-7.3) and with main component "barrel-like" configuration (OR, 6.9; 95% CI, 1.7-28.3). CONCLUSIONS: Mural thrombus formation within the main body of the endograft is related to different endograft configurations, main body geometry, and device fabric but appears to have no association with the occurrence of thromboembolic events over time.