RESUMO
Dried blood spot succinylacetone (SA) is often used as a biomarker for newborn screening (NBS) for tyrosinemia type 1 (TT1). However, false-positive SA results are often observed. Elevated SA may also be due to maleylacetoacetate isomerase deficiency (MAAI-D), which appears to be clinically insignificant. This study investigated whether urine organic acid (uOA) and quantitative urine maleic acid (Q-uMA) analyses can distinguish between TT1 and MAAI-D. We reevaluated/measured uOA (GC-MS) and/or Q-uMA (LC-MS/MS) in available urine samples of nine referred newborns (2 TT1, 7 false-positive), eight genetically confirmed MAAI-D children, and 66 controls. Maleic acid was elevated in uOA of 5/7 false-positive newborns and in the three available samples of confirmed MAAI-D children, but not in TT1 patients. Q-uMA ranged from not detectable to 1.16 mmol/mol creatinine in controls (n = 66) and from 0.95 to 192.06 mmol/mol creatinine in false-positive newborns and MAAI-D children (n = 10). MAAI-D was genetically confirmed in 4/7 false-positive newborns, all with elevated Q-uMA, and rejected in the two newborns with normal Q-uMA. No sample was available for genetic analysis of the last false-positive infant with elevated Q-uMA. Our study shows that MAAI-D is a recognizable cause of false-positive TT1 NBS results. Elevated urine maleic acid excretion seems highly effective in discriminating MAAI-D from TT1.
Assuntos
Tirosinemias , Humanos , Recém-Nascido , Biomarcadores , Cromatografia Líquida , Creatinina , Triagem Neonatal/métodos , Espectrometria de Massas em Tandem , Tirosinemias/diagnósticoRESUMO
Autoimmune encephalitis (AE) is an important cause of encephalitis in humans and occurs at a similar rate to infectious encephalitis. It is frequently associated with antibodies against the extracellular domain of neuronal proteins. Among human AE, that with antibodies against leucine-rich glioma-inactivated 1 (LGI1) is one of the most prevalent forms, and was recently described in cats with limbic encephalitis (LE). In this study, we describe a large cohort (n = 32) of cats with AE, tested positive for voltage gated potassium channel (VGKC)-antibodies, of which 26 (81%) harboured LGI1-antibodies. We delineate their clinical and paraclinical features as well as long-term outcomes up to 5 years. Similar to human cases, most cats with LGI1-antibodies had a history of focal seizures (83%), clustering in the majority (88%), with interictal behavioural changes (73%). Among feline AE patients, there was no seizure type or other clinical characteristic that could distinguish LGI1-antibody positive from negative cats, unlike the pathognomic faciobrachial dystonic seizures seen in humans. Although six cats were euthanased in the first year for epilepsy-associated reasons, those attaining at least 1-year survival had good seizure control and quality of life with appropriate veterinary care and medication. Acute-phase immunotherapy (prednisolone) was given to the most severely unwell cases and its effect is retrospectively evaluated in 10 cats. Our data show LGI1-antibodies are an important cause of feline encephalitis, sharing many features with human AE. Further research should examine optimal therapeutic management strategies and the cause of LE in seronegative cats, building on paradigms established in the counterpart human disease.
Assuntos
Doenças do Gato , Encefalite , Encefalite Límbica , Humanos , Gatos , Animais , Encefalite Límbica/terapia , Encefalite Límbica/veterinária , Encefalite Límbica/complicações , Qualidade de Vida , Estudos Retrospectivos , Encefalite/veterinária , Encefalite/complicações , Anticorpos , Convulsões/etiologia , Convulsões/veterinária , Convulsões/tratamento farmacológico , Autoanticorpos/uso terapêuticoRESUMO
AIM: The decision to perform an abdominoperineal excision (APR) rather than restorative bowel resection relies on a number of clinical factors. There remains great variability in APR rates internationally. The aim of this study was to demonstrate trends of APR surgery in low rectal cancer (< 6 cm from the anal verge) in Australasia and identify predictors of nonrestoration. METHOD: This study reviewed a prospectively maintained colorectal registry - the Binational Colorectal Cancer Audit (BCCA) - from general/colorectal surgical units across Australia and New Zealand. Data were analysed to determine factors predictive of nonrestorative resection. Patients were analysed based on the presence (control) or absence (comparison) of a primary anastomosis. RESULTS: Of 3628 patients with rectal cancer, 2096 were diagnosed with low rectal cancer between 2007 and 2017. The incidence of APR remained constant over the study period, with 58% of all resections of low rectal cancer being APR. The majority of resections were performed by consultants in urban hospitals (86% vs 14%). Tumours ≤ 3 cm from the anal verge, T4, M1 disease and neoadjuvant therapy were the greatest predictors of APR (P < 0.001). A significantly increased rate of restorative surgery was observed in public hospital settings (59% vs 41%, P < 0.05). The rate of positive circumferential resection margin (CRM) was 7.95%, with significantly increased rates in patients undergoing APR (12.2% vs 6.2%, P < 0.001). CRM positivity was increased in open approaches, T4, N2 and M1 staged disease and in an emergency/urgent setting (P < 0.001 and P < 0.045, respectively). Significantly increased wound and pulmonary complications were observed in the APR cohort (P < 0.01). CONCLUSION: The rates of APR in Australia and New Zealand remain high but are comparable to international figures, with one-third of rectal cancers being treated by APR. The main determinants of APR are tumour height, T stage and neoadjuvant therapy requirement. CRM positivity was higher in APR patients.
Assuntos
Protectomia , Neoplasias Retais , Humanos , Recidiva Local de Neoplasia , Períneo/cirurgia , Protectomia/efeitos adversos , Neoplasias Retais/epidemiologia , Neoplasias Retais/cirurgia , Reto/cirurgia , Estudos Retrospectivos , Resultado do TratamentoRESUMO
AIM: Robotic transanal minimally invasive surgery (R-TAMIS) is gaining traction around the globe as an alternative to laparoscopic conventional TAMIS for local excision of benign and early malignant rectal lesions. The aim was to analyse patient and oncological outcomes of R-TAMIS for consecutive cases in a single centre. METHODS: A prospective analysis of consecutive R-TAMIS procedures over a 12-month period was performed. Data were collated from hospital databases and theatre registers. RESULTS: Eleven patients (six men, five women), mean age 69.81 years (51-92 years), underwent R-TAMIS over 12 months utilizing a da Vinci Xi platform. The mean lesion size was 36 mm (20-60 mm) with a mean distance from the anal verge of 7.5 cm (3-14 cm). Five lesions were posterior in anatomical location, four anterior, one right lateral and one left lateral. All procedures were performed in the lithotomy position using a GelPOINT Path Platform. Mean operative time was 64 min (40-100 min). Complete resection was achieved in 10/11 patients with two patients being upgraded to a diagnosis of adenocarcinoma. Nine patients were diagnosed with dysplastic lesions. Four patients had a false positive diagnosis of an invasive tumour on MRI. Six patients required suturing for full-thickness resections. One patient had a postoperative bleed requiring repeat endoscopy and clipping. One patient (full-thickness resection of T3 tumour) proceeded to a formal resection without difficulty with no residual disease (T0N0, 0/22). One patient with a fully resected T2 tumour is undergoing a surveillance protocol. The mean length of stay was 1 day with two patients having a length of stay of 2 days and one patient of 4 days. CONCLUSION: R-TAMIS could potentially represent a safe novel approach for local resection of rectal lesions.
Assuntos
Neoplasias Retais , Procedimentos Cirúrgicos Robóticos , Cirurgia Endoscópica Transanal , Idoso , Canal Anal/cirurgia , Feminino , Humanos , Masculino , Procedimentos Cirúrgicos Minimamente Invasivos , Neoplasias Retais/cirurgia , Reto , Resultado do TratamentoRESUMO
AIM: Currently, there is no clear consensus on the role of extended pelvic resections for locally advanced or recurrent disease involving major vascular structures. The aims of this study were to report the outcomes of consecutive patients undergoing extended resections for pelvic malignancy involving the aortoiliac axis. METHODS: Prospective data were collected on patients having extended radical resections for locally advanced or recurrent pelvic malignancies, with aortoiliac axis involvement, requiring en bloc vascular resection and reconstruction, at a single institution between 2014 and 2018. RESULTS: Eleven patients were included (median age 60 years; range 31-69 years; seven women). The majority required resection of both arterial and venous systems (n = 8), and the technique for vascular reconstruction was either interposition grafts or femoral-femoral crossover grafts. The median operative time was 510 min (range 330-960 min). Clear resection margins (R0) were achieved in nine patients. The median length of stay was 25 days (range 7-83 days). Seven patients did not suffer an early complication. There was one serious complication (Clavien-Dindo ≥ 3), an arterial graft occlusion secondary to thrombus in the immediate postoperative period, requiring a return to theatre and thrombectomy. The median length of follow-up in this study was 22 months (range 4-58 months). CONCLUSION: This series demonstrates that en bloc major vascular resection and reconstruction can be performed safely and can achieve clear resection margins in selected patients with locally advanced or recurrent pelvic malignancy at specialist surgery centres.
Assuntos
Exenteração Pélvica , Neoplasias Pélvicas , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/cirurgia , Exenteração Pélvica/efeitos adversos , Neoplasias Pélvicas/cirurgia , Estudos Prospectivos , Estudos Retrospectivos , Resultado do TratamentoAssuntos
Laparoscopia , Neoplasias , Procedimentos Cirúrgicos Robóticos , Colectomia , Humanos , Resultado do TratamentoRESUMO
AIM: Minimally invasive surgical approaches for cancer of the right colon have been well described with significant patient and equivalent oncological benefits. Robotic surgery has advanced in its ability to provide multi-quadrant abdominal access, leading the surgical community to widen its application outside of the pelvis to other abdominal compartments. Globally it is being realized that a patient's surgical episode of care is becoming the epicentre of cancer treatment. In order to establish the role of robotic surgery in a patient's episode of care, 'successful patient-oriented surgical' parameters in right hemicolectomy for malignancy were measured. The objective was to examine the rates of successful patient-oriented surgical outcomes in robotic right hemicolectomy (RRH) compared to laparoscopic right hemicolectomy (LRH) for cancer. METHODS: A systematic search of MEDLINE (Ovid: 1946-present), PubMed (NCBI), Embase (Ovid: 1966-present) and Cochrane Library was conducted using PRISMA for parameters of successful patient-oriented surgical outcomes in RRH and LRH for malignancy alone. The parameters measured included postoperative ileus, anastomotic complication, surgical wound infection, length of stay (LOS), incisional hernia rate, conversion to open, margin status, lymph node harvest and overall morbidity and mortality. RESULTS: There were 15 studies which included 831 RRH patients and 3241 LRH patients, with a median age of 62-74 years. No study analysed the concept of successful patient-oriented surgical outcomes. There was no significant difference in the incidence of postoperative ileus, with less time to first flatus in RRH (2.0-2.7 days, compared with 2.5-4.0 days, P < 0.05). Anastomotic leak rate in one study reported a significant increase in LRH compared to RRH (P < 0.05, 0% vs 8.3%). Significantly decreased LOS following RRH was outlined in six studies. One study reported a significantly higher rate of incisional hernias following LRH with extracorporeal anastomoses compared to RRH with intracorporeal anastomoses. Overall rates of conversion to open surgery were less with RRH (0%-3.9% vs 0%-18%, P < 0.001, 0.05). One study outlined significantly higher rates of incomplete resection with an open right hemicolectomy compared with minimally invasive laparoscopic and robotic resections, with positive margin rates of 2.3%, 0.9% and 0% respectively (P < 0.001). Two studies reported significantly higher lymph node harvest in RRH (P < 0.05). Overall morbidity and 30-day mortality were comparable in both approaches. CONCLUSION: Thirty-day morbidity and mortality were comparable between the two approaches, with patients undergoing RRH having lower anastomotic complications, increased lymph node harvest, and reduced LOS, conversion to open and incisional hernia rates in a number of studies. There are limited data on surgical approach and impact on quality of life and what patients deem successful surgical outcomes. There is a further need for a randomized controlled trial examining successful patient-oriented outcomes in right hemicolectomy for malignancy.
Assuntos
Laparoscopia , Procedimentos Cirúrgicos Robóticos , Neoplasias do Colo do Útero , Colectomia , Feminino , Humanos , Recém-Nascido , Tempo de Internação , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Qualidade de Vida , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Resultado do TratamentoRESUMO
BACKGROUND: Despite advances in the rates of total mesorectal excision (TME) for rectal cancer surgery, decreased local recurrence rates and increased 5-year survival, there still exists large variation in the quality of treatment received. Up to 30 per cent of rectal cancers are locally advanced at presentation and approximately 5-10 per cent still breach the mesorectal plane and invade adjacent structures despite neoadjuvant therapy. With the evolution of extended resections for rectal cancers beyond the TME plane, proponents advocate that these resections should be performed only in specialist centres. The aim was to assess the prognostic factors and patterns of failure after beyond TME surgery for T4 rectal cancers. METHODS: Data were collected from prospective databases at three high-volume institutions specializing in beyond TME surgery for T4 rectal cancers between 1990 and 2013. The primary outcome measures were overall survival, local recurrence and patterns of first failure. RESULTS: Three hundred and sixty patients were identified. The negative resection margin (R0) rate was 82·8 per cent (298 patients) and the local recurrence rate was 12·5 per cent (45 patients). The type of surgical procedure (Hartmann's: hazard ratio (HR) 4·49, 95 per cent c.i. 1·99 to 10·14; P = 0·002) and lymphovascular invasion (HR 2·02, 1·08 to 3·77; P = 0·032) were independent predictors of local recurrence. The 5-year overall survival rate for all patients was 61 (95 per cent c.i. 55 to 67) per cent. The 5-year cumulative incidence of first failure was 8 per cent for local recurrence, 6 per cent for local and distant disease, and 18 per cent for distant disease. CONCLUSION: This study has demonstrated that a coordinated approach in specialist centres for beyond TME surgery can offer good oncological and long-term survival in patients with T4 rectal cancers.
ANTECEDENTES: A pesar de las mejoras en los porcentajes de extirpación total del mesorrecto (total mesorectal excision, TME) en la cirugía de cáncer de recto, la disminución de los porcentajes de recidiva local y el aumento de la supervivencia a 5 años, todavía existe una gran variabilidad en la calidad del tratamiento recibido. Hasta el 30% de los cánceres de recto están localmente avanzados en el momento del diagnóstico y aproximadamente el 5-10% sobrepasarán el plano mesorrectal e invadirán las estructuras adyacentes a pesar del tratamiento neoadyuvante. Con la evolución de las resecciones ampliadas para los cánceres de recto que sobrepasan el plano de la TME, los defensores recomiendan que estas resecciones solo se realicen en centros especializados. El objetivo fue evaluar los factores pronósticos y los patrones de recidiva después de la cirugía ampliada más allá de la TME para los cánceres de recto T4. MÉTODOS: Los datos se recogieron a partir de bases de datos prospectivas de tres instituciones de alto volumen especializadas en resecciones ampliadas más allá de la TME para el cáncer de recto T4 entre 1990 y 2013. Los criterios de valoración principal fueron la supervivencia global, la recidiva local y los patrones de la primera recidiva. RESULTADOS: Se identificaron 360 pacientes. El margen de resección fue negativo (R0) en el 82,8% (n = 298) y el porcentaje de recidiva local fue de 12,5% (n = 45). El tipo de cirugía realizada (Hartmann: cociente de riesgos instantáneos, hazard ratio, HR 4,49; i.c. del 95%: 1,99-10,14; P = 0,002) y la invasión linfovascular (HR 2,02; i.c. del 95%: 1,08-3,77; P = 0,032) fueron factores predictivos independientes de recidiva local. La supervivencia global a 5 años para todos los pacientes fue del 61% (i.c. del 95%: 55-67). La incidencia acumulada a los 5 años de la primera recidiva fue de 8% para la recidiva local, 6% para la recidiva local y a distancia, y 18% para la recidiva a distancia. CONCLUSIÓN: Este estudio demuestra que un abordaje coordinado en centros especializados para cirugía más allá de la TME puede ofrecer una buena supervivencia oncológica y a largo plazo en pacientes con cáncer de recto T4.
Assuntos
Neoplasias Retais/cirurgia , Reto/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Quimioterapia Adjuvante , Feminino , Humanos , Masculino , Margens de Excisão , Pessoa de Meia-Idade , Terapia Neoadjuvante , Recidiva Local de Neoplasia , Estadiamento de Neoplasias , Radioterapia Adjuvante , Neoplasias Retais/patologia , Reto/patologia , Estudos Retrospectivos , Análise de Sobrevida , Falha de TratamentoRESUMO
PURPOSE: Closed reduction under conscious sedation in the emergency department (ED) has been demonstrated to provide cost-effective, timely care. There has been little research into the efficacy of conscious sedation and reduction from an orthopaedic trauma perspective. This study describes the epidemiology and outcomes associated with fracture conscious sedation and reduction in our level I paediatric ED. METHODS: All fracture patients presenting overnight to our level I trauma centre ED between 01 June 2016 and 30 June 2017 were identified. Patient records were reviewed to determine diagnoses, treatments and outcomes. The rate of repeat intervention after successful conscious sedation and reduction and rate of changes in management in which the orthopaedic resident's overnight management plan to provide procedural sedation was altered to surgical intervention after morning case review rounds was calculated. RESULTS: Conscious sedation and reduction was performed on a total of 386 patients covering ten fracture types during the course of our study, with distal radius fractures (n = 167, 43.3%) comprising the majority of cases. A total of 53 cases (13.7%, 53/386) lost alignment and required repeat intervention, consisting of 33 cases (8.5%, 33/386) that required repeat surgery and 5.2% (20/386) that required cast wedging. In all, 12 patients (3.1%, 12/386) initially reduced under conscious sedation required a change in management and surgical intervention. There were five cases of growth arrest and two cases of malunion. CONCLUSIONS: Conscious sedation and reduction provides an alternative to general anaesthesia for many paediatric trauma injuries without compromising patient outcomes. LEVEL OF EVIDENCE: IV.
Assuntos
Neoplasias Retais/cirurgia , Procedimentos Cirúrgicos Robóticos/métodos , Cirurgia Endoscópica Transanal/métodos , Neoplasias do Colo do Útero/cirurgia , Neoplasias Vaginais/cirurgia , Adulto , Colo do Útero/patologia , Colo do Útero/cirurgia , Feminino , Humanos , Neoplasias Retais/patologia , Reto/patologia , Reto/cirurgia , Neoplasias do Colo do Útero/secundário , Vagina/patologia , Vagina/cirurgia , Neoplasias Vaginais/secundárioRESUMO
BACKGROUND AND PURPOSE: Acquired neuromyotonia can occur in patients with thymoma, alone or in association with myasthenia gravis (MG), but the clinical prognostic significance of such comorbidity is largely unknown. The clinico-pathological features were investigated along with the occurrence of neuromyotonia as predictors of tumour recurrence in patients with thymoma-associated myasthenia. METHODS: A total number of 268 patients with thymomatous MG were studied retrospectively. Patients with symptoms of spontaneous muscle overactivity were selected for autoantibody testing using immunohistology for neuronal cell-surface proteins and cell-based assays for contactin-associated protein 2 (CASPR2), leucine-rich glioma inactivated 1 (LGI1), glycine receptor and Netrin-1 receptor antibodies. Neuromyotonia was diagnosed according to the presence of typical electromyography abnormalities and/or autoantibodies against LGI1/CASPR2. RESULTS: Overall, 33/268 (12%) MG patients had a thymoma recurrence. Five/268 (2%) had neuromyotonia, four with typical autoantibodies, including LGI1 (n = 1), CASPR2 (n = 1) or both (n = 2). Three patients had Netrin-1 receptor antibodies, two with neuromyotonia and concomitant CASPR2+LGI1 antibodies and one with spontaneous muscle overactivity without electromyography evidence of neuromyotonia. Thymoma recurrence was more frequent in those with (4/5, 80%) than in those without (28/263, 10%, P < 0.001) neuromyotonia. Neuromyotonia preceded the recurrence in 4/5 patients. In univariate analysis, predictors of thymoma recurrence were age at thymectomy [odds ratio (OR) 0.95, 95% confidence interval (CI) 0.93-0.97], Masaoka stage ≥IIb (OR 10.73, 95% CI 2.38-48.36) and neuromyotonia (OR 41.78, 95% CI 4.71-370.58). CONCLUSIONS: De novo occurrence of neuromyotonia in MG patients with previous thymomas is a rare event and may herald tumour recurrence. Neuronal autoantibodies can be helpful to assess the diagnosis. These observations provide pragmatic risk stratification for tumour vigilance in patients with thymomatous MG.
Assuntos
Síndrome de Isaacs/complicações , Miastenia Gravis/complicações , Timoma/complicações , Neoplasias do Timo/complicações , Adulto , Autoanticorpos/sangue , Eletromiografia , Feminino , Humanos , Masculino , Proteínas de Membrana/imunologia , Pessoa de Meia-Idade , Miastenia Gravis/sangue , Recidiva Local de Neoplasia , Netrina-1/imunologia , Estudos Retrospectivos , Timoma/sangue , Neoplasias do Timo/sangueRESUMO
BACKGROUND AND PURPOSE: Antibodies to glycine receptors (GlyR-Abs) were first defined in progressive encephalopathy with rigidity and myoclonus (PERM) but were subsequently identified in other clinical presentations. Our aim was to assess the clinical associations of all patients identified with GlyR-Abs in Queensland, Australia, between April 2014 and May 2017 and to compare these to cases reported in the literature. METHODS: A literature review identified the clinical features of all published GlyR-Ab-positive cases through online databases. A case series was undertaken via collection of clinical information from all patients diagnosed or known to immunology, pathology or neurological services in Queensland during the study period of 3 years. RESULTS: In all, 187 GlyR-Ab-positive cases were identified in the literature. The majority (47.6%) had PERM, 22.4% had epilepsy, but the remaining 30% included mixed phenotypes consisting of cerebellar ataxia, movement disorders, demyelination and encephalitis/cognitive dysfunction. By contrast, in our series of 14 cases, eight had clinical presentations consistent with seizures and epilepsy and only three cases had classical features of PERM. There was one case each of global fatiguable weakness with sustained clonus, laryngeal dystonia and movement disorder with hemiballismus and tics. The rate of response to immune therapy was similar in all groups. CONCLUSION: Antibodies to glycine receptors are linked to a spectrum of neurological disease. The results of the literature review and our case series suggest a greater relationship between GlyR-Abs and epilepsy than previously reported.
Assuntos
Autoanticorpos , Rigidez Muscular/imunologia , Mioclonia/imunologia , Receptores de Glicina/imunologia , Adolescente , Adulto , Idoso , Austrália , Criança , Pré-Escolar , Encefalite/imunologia , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/imunologia , Fenótipo , Adulto JovemRESUMO
BACKGROUND: Tumour metastatic disease reflects a complex interplay between tumour characteristics and local host factors. This complex relationship may have an influence on the development of metastatic disease and patient survival. Multiple factors of the primary tumour influence the development of metastases and survival in patients. Breast cancer subtype has been shown to influence patient prognosis and response to therapy. AIM: The aim of our study was to correlate breast cancer subtype with bony metastatic disease and patient survival. METHODS: All women undergoing breast cancer surgery in a single institution in Ireland between January 1990 and July 2012 were included in the study. A prospectively maintained database was reviewed and expanded retrospectively. Univariate and multivariate analysis was carried out. RESULTS: Database interrogation identified 238 patients for inclusion. Patient demographics, tumour characteristics and survival data were analyzed. Average follow-up of patients was 57.6 months (range 1-272 months). Multivariate analysis identified oestrogen receptor positivity and presence of metastatic disease elsewhere as significant factors influencing the development of bone metastases. Breast cancer subtype did not influence the bone metastases development (p = 0.99). Breast cancer subtype influenced patients' overall survival (p < 0.001), bone disease-free survival (p < 0.001) and survival with bone disease (p < 0.001). Subtype did not influence distant disease-free survival. CONCLUSION: Breast cancer subtype influences patients' overall survival, with luminal A and B subtypes associated with the best outcome. Bone metastases remain the most common form of breast cancer metastases but are not influenced by breast cancer subtype.
Assuntos
Neoplasias Ósseas/secundário , Neoplasias da Mama/patologia , Mastectomia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/cirurgia , Intervalo Livre de Doença , Feminino , Humanos , Irlanda , Pessoa de Meia-Idade , Prognóstico , Estudos RetrospectivosRESUMO
Severe, recurrent or bilateral optic neuritis (ON) often falls within the neuromyelitis optica spectrum disorders (NMOSD), but the diagnosis can be particularly challenging and has important treatment implications. We report the features, course and outcomes of patients presenting with atypical ON when isolated at onset. We retrospectively analyzed 69 sequential patients referred to a single UK NMO center with isolated ON at onset. Aquaporin-4 antibody (AQP4-Ab) assessment was performed in all patients and IgG1 myelin-oligodenrocyte glycoprotein (MOG-Ab) in AQP4-Ab(neg) patients. 37 AQP4-Ab positive (AQP4-Ab(pos)) and 32 AQP4-Ab negative (AQP4-Ab(neg)) patients (8 with MOG-Ab) were identified. The AQP4-Ab(neg) group included heterogeneous diagnoses: multiple sclerosis (MS), NMO, relapsing isolated ON (RION), monophasic isolated ON and relapsing acute disseminated encephalomyelitis (ADEM)-like syndromes. Compared to AQP4-Ab(neg) patients, AQP4-Ab(pos) patients had a worse residual visual outcome from first attack (median VFSS 4 vs. 0, p = 0.010) and at last assessment (median VFSS 5 versus 2, p = 0.005). However, AQP4-Ab(neg) patients with RION also had poor visual outcome. Up to 35% of AQP4-Ab(neg) patients developed a LETM and two developed low positivity for AQP4-Ab over time. Eight AQP4-Ab(neg) patients (25%) were MOG-Ab positive, covering a range of phenotypes excluding MS; the first ON attack was often bilateral and most had relapsing disease with a poor final visual outcome [VFSS 4, range (0-6)]. In conlcusion, AQP4-Ab positivity is confirmed as a predictor of poor visual outcome but AQP4-Ab(neg) RION also had a poor visual outcome. Of those without AQP4-Ab, 25% had MOG-Ab and another 25% developed MS; thus, MOG-Ab is associated with AQP4-Ab(neg) non-MS ON.
Assuntos
Autoanticorpos/sangue , Neuromielite Óptica/diagnóstico , Neuromielite Óptica/imunologia , Adolescente , Adulto , Aquaporina 4/imunologia , Autoantígenos/imunologia , Criança , Pré-Escolar , Feminino , Humanos , Imunoglobulina G/sangue , Masculino , Pessoa de Meia-Idade , Glicoproteína Mielina-Oligodendrócito/imunologia , Neuromielite Óptica/sangue , Neurite Óptica/sangue , Neurite Óptica/diagnóstico , Neurite Óptica/imunologia , Prognóstico , Estudos Retrospectivos , Adulto JovemRESUMO
Clinical networks have potential to increase elective surgical workload for benign conditions in non-cancer centres. The aims of this study were to determine outcomes for elective laparoscopic cholecystectomy in our unit and to evaluate early experience in managing benign surgical workload referred from the tertiary centre within our clinical network. An analysis of cholecystectomies performed at Mayo General Hospital was conducted (2003-2013). A review of elective procedures more recently referred from Galway University Hospital (GUH) waiting lists was also conducted. 1937 consecutive cholecystectomies were performed with an overall laparoscopic conversion rate of 1.7% (33/1875). The total major complication rate was 0.93% (18/1937). 151 selected procedures originating from GUH have been performed since December 2013 without adverse events. Laparoscopic cholecystectomy can be performed in significant volume in the general hospital environment. This and other appropriate benign surgical procedures may be performed outside of tertiary units according to network agreements.
Assuntos
Colecistectomia Laparoscópica/estatística & dados numéricos , Cirurgia Geral/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Conversão para Cirurgia Aberta/estatística & dados numéricos , Procedimentos Cirúrgicos Eletivos/estatística & dados numéricos , Feminino , Humanos , Complicações Intraoperatórias/epidemiologia , Irlanda/epidemiologia , Masculino , Pessoa de Meia-Idade , Encaminhamento e Consulta/estatística & dados numéricos , Carga de Trabalho , Adulto JovemRESUMO
The aim of this study was to examine the evidence for hospital follow up of breast cancer survivors and to identify patient preferences for hospital or community follow-up. We surveyed General Practitioner attitudes towards community follow-up and quantified the incidence of new or recurrent cancers within a patient cohort to identify their primary symptoms and thus cancer detection in the community. A 22 item questionnaire was distributed to 101 breast cancer survivors from a cohort of 921 treated patients. A 9 item questionnaire was distributed to 81 General Practitioners. Patients are reassured by hospital outpatient appointments, n=63 (74%) but have high levels of confidence in General Practitioner follow-up, n=57 (67%). General Practitioners are equally divided regarding their support for the transfer of follow-up (51%, 49%). Ten of the 14 new cancer episodes were associated with obvious clinical signs (p < 0.05). The proposed transfer of follow-up for patients to general practice by the national cancer control programme is appropriate.
Assuntos
Neoplasias da Mama , Atenção à Saúde , Medicina Geral , Oncologia , Preferência do Paciente/estatística & dados numéricos , Adulto , Atitude do Pessoal de Saúde , Neoplasias da Mama/psicologia , Neoplasias da Mama/reabilitação , Neoplasias da Mama/terapia , Atenção à Saúde/métodos , Atenção à Saúde/organização & administração , Feminino , Medicina Geral/métodos , Medicina Geral/organização & administração , Humanos , Oncologia/métodos , Oncologia/organização & administração , Médicos de Família/psicologia , Período Pós-Operatório , Inquéritos e Questionários , Sobreviventes/psicologiaRESUMO
INTRODUCTION: No consensus exists regarding definitive management of colonic perforation in Ehlers-Danlos syndrome (EDS), with various authors advocating different operative techniques. Spontaneous colonic perforation is a recognised complication of vascular-type EDS (type IV), with many reported cases in the literature. No such cases have been reported concerning classical-type EDS (type I/II). PRESENTATION OF CASE: A 55-year-old male with a family history of EDS presented with acute lower abdominal pain and signs of localised peritonitis. Following resuscitation, computerised tomography identified perforation of a sigmoid diverticulum with localised intraperitoneal air. Considering the potential complications associated with laparotomy in a patient with EDS, a trial of conservative management was undertaken including image-guided drainage of a mesenteric abscess. Intensive care monitoring, nutritional support and intravenous antibiotics also facilitated successful non-operative management. Following discharge, molecular studies confirmed COL5A1 mutation, and a diagnosis of classical Ehlers-Danlos syndrome was established. DISCUSSION: This is the first reported case of successful conservative management of colonic diverticular perforation in a patient with classical Ehlers-Danlos syndrome. CONCLUSION: EDS is highly significant in the surgical context, with the causative genetic factors serving to further complicate the course of surgical intervention. In the absence of consensus regarding best surgical management, due consideration should be given to non-operative management of benign colonic perforation.
RESUMO
A 40-year-old man presented with respiratory compromise and was intubated. After tracheostomy, he was found to have ophthalmoplegia, severe limb rigidity, stimulus-sensitive myoclonus and autonomic dysfunction. For 1 week before admission, there had been a prodromal illness with low mood, hallucinations and limb myoclonus. Serum glycine receptor antibodies were strongly positive: we diagnosed progressive encephalomyelitis with rigidity and myoclonus. Despite a relapse, he has done well following immunotherapies. The clinical syndrome of encephalomyelitis with rigidity, described in 1976, often has a severe progressive course. A minority of patients have glutamic acid decarboxylase antibodies. The association with glycine receptor antibody was first reported in 2008, and we briefly review subsequent case reports to illustrate the range of clinical features. The antibody is likely to be disease mediating, although this remains unproven. The spectrum of diagnosable and treatable antibody mediated neurological syndromes is expanding. It is vital to recognise these conditions early to reduce morbidity and mortality.
Assuntos
Encefalomielite/complicações , Encefalomielite/tratamento farmacológico , Imunoglobulinas Intravenosas/uso terapêutico , Rigidez Muscular/complicações , Rigidez Muscular/tratamento farmacológico , Mioclonia/complicações , Mioclonia/tratamento farmacológico , Receptores de Glicina/imunologia , Adulto , Proteínas de Fluorescência Verde/genética , Proteínas de Fluorescência Verde/metabolismo , Células HEK293 , Humanos , Masculino , Receptores de Glicina/genética , Receptores de Glicina/metabolismo , TransfecçãoRESUMO
INTRODUCTION: The spleen is a highly vascular organ and is in close proximity to many potential primary sites such as the stomach, breast, pancreas and colon. It is however an unusual site for metastatic disease. The reasons for this are not fully understood at the present time. A number of hypotheses have been postulated. Definitive diagnosis and subsequent treatment of metastatic disease to the spleen presents a number of challenges for the surgeon and the wider multi disciplinary team. PRESENTATION OF CASE: A 60 year old male presented with a three week history of lower abdominal pain, distension, nausea and a palpable mass in the right iliac fossa. Imaging revealed a large circumferential caecal mass consistent with malignancy with secondary small bowel obstruction. The patient underwent an emergency right hemicolectomy and was subsequently treated with systemic chemotherapy for lymph node positive caecal adenocarcinoma. Two years following initial presentation, two suspicious lesions were noted within the spleen during routine surveillance imaging with computerised tomography of the thorax, abdomen and pelvis. Of note, one month prior to this the patient had a normal surveillance colonoscopy performed with multiple interval carcinoembryonic antigen (CEA) levels recorded within the normal range. Image guided splenic biopsy and subsequent histology confirmed metastatic caecal adenocarcinoma. DISCUSSION: Splenic metastases from any source including the colon are a rare phenomenon. CONCLUSION: This case questions the value of routine post operative CEA monitoring, underlines the importance of multimodal pathways of surveillance and highlights recent advances in image guided splenic biopsy techniques.