Urinary Symptoms and Urodynamics Findings in Patients with Friedreich's Ataxia

Purpose To assess the prevalence of LUTS, urinary tract and urodynamics changes in patients with Friedreich's Ataxia (FA), the most common form of hereditary ataxia. Materials and Methods This study evaluated 258 patients with genetically confirmed diagnoses of FA. Of the patients, 158 responded to a questionnaire which assessed their urinary symptoms. Patients with clinical changes underwent renal function examinations, ultrasound, and urodynamic studies (UDS). Results The sample analyzed showed that 82% of the patients complained of LUTS, although only 22% related the symptoms with quality of life impairment. Twenty eight (18%) of them agreed to undergo urodynamic evaluation. Urgency was the most common symptom. The exam was normal in 4 (14%) and detrusor underactivity was the most common finding. 14% (4 patients) presented with dilatation of the upper urinary tract at ultrasound scans. None of them had creatinine alterations. Conclusions LUTS was found in a large percentage of patients with FA, but only a few related it to their quality of life impairment. Although creatinine levels was normal in this sample, some patients may show upper urinary tract abnormalities, with deserves close observation and proper care. .

Urinary symptoms and urodynamics findings in patients with Friedreich's ataxia.

PURPOSE: To assess the prevalence of LUTS, urinary tract and urodynamics changes in patients with Friedreich's Ataxia (FA), the most common form of hereditary ataxia. MATERIALS AND METHODS: This study evaluated 258 patients with genetically confirmed diagnoses of FA. Of the patients, 158 responded to a questionnaire which assessed their urinary symptoms. Patients with clinical changes underwent renal function examinations, ultrasound, and urodynamic studies (UDS). RESULTS: The sample analyzed showed that 82% of the patients complained of LUTS, although only 22% related the symptoms with quality of life impairment. Twenty eight (18%) of them agreed to undergo urodynamic evaluation. Urgency was the most common symptom. The exam was normal in 4 (14%) and detrusor underactivity was the most common finding. 14% (4 patients) presented with dilatation of the upper urinary tract at ultrasound scans. None of them had creatinine alterations. CONCLUSIONS: LUTS was found in a large percentage of patients with FA, but only a few related it to their quality of life impairment. Although creatinine levels was normal in this sample, some patients may show upper urinary tract abnormalities, with deserves close observation and proper care.

Risk factors related to low ankle-brachial index measured by traditional and modified definition in hypertensive elderly patients.

Peripheral arterial disease (PAD) increases with age and ankle-brachial index (ABI) ≤ 0.9 is a noninvasive marker of PAD. The purpose of this study was to identify risk factors related to a low ABI in the elderly using two different methods of ABI calculation (traditional and modified definition using lower instead of higher ankle pressure). A cross-sectional study was carried out with 65 hypertensive patients aged 65 years or older. PAD was present in 18% of individuals by current ABI definition and in 32% by modified method. Diabetes, cardiovascular diseases, metabolic syndrome, higher levels of systolic blood pressure and pulse pressure, elevated risk by Framingham Risk Score (FRS), and a higher number of total and antihypertensive drugs in use were associated with low ABI by both definitions. Smoking and LDL-cholesterol were associated with low ABI only by the modified definition. Low ABI by the modified definition detected 9 new cases of PAD but cardiovascular risk had not been considered high in 3 patients when calculated by FRS. In conclusion, given that a simple modification of ABI calculation would be able to identify more patients at high risk, it should be considered for cardiovascular risk prediction in all elderly hypertensive outpatients.

Botulinum toxin A in the treatment of spinal cord injury patients with refractory neurogenic detrusor overactivity.

PURPOSE: To evaluate the efficacy of botulinum toxin type A injections in the detrusor muscle in patients with spinal cord injury and urinary incontinence due to detrusor overactivity and refractory to anticholinergic agents. MATERIALS AND METHODS: We prospectively evaluated 22 patients with spinal cord injuries, whose bladders were emptied by intermittent catheterization. All patients had detrusor overactivity and urinary incontinence that proved difficult to treat, despite using high doses of two different anticholinergics. The pre-treatment assessment included a complete urodynamic study and ultrasonography of the kidneys and urinary tract. A one-month follow-up was completed with urodynamic evaluation and the clinical response was evaluated through outpatient consultations and telephone contact. RESULTS: After the procedure, the maximum cystometric capacity and the bladder reflex volume increased, whereas the maximum detrusor pressure and compliance decreased. The mean duration of continence was 7±7 months. In 18 patients (81.8%), it was necessary to administer anticholinergics to achieve continence. Five patients (22.7%) had indication of reinjection, and augmentation cystoplasty was indicated in 9 patients (40.9%). CONCLUSION: The use of botulinum toxin in the treatment of neurogenic detrusor overactivity refractory to anticholinergics is an option before more invasive treatments, such as augmentation cystoplasty, are attempted. In our study as well as in the literature, there was improvement in most urodynamic parameters. Overall, 40.9% of patients underwent augmentation cystoplasty and 81.8% of patients needed anticholinergic agents to reach urinary continence. Further studies are necessary to improve the procedure and to achieve better clinical results.

Botulinum toxin A in the treatment of spinal cord injury patients with refractory neurogenic detrusor overactivity

PURPOSE: To evaluate the efficacy of botulinum toxin type A injections in the detrusor muscle in patients with spinal cord injury and urinary incontinence due to detrusor overactivity and refractory to anticholinergic agents. MATERIALS AND METHODS: We prospectively evaluated 22 patients with spinal cord injuries, whose bladders were emptied by intermittent catheterization. All patients had detrusor overactivity and urinary incontinence that proved difficult to treat, despite using high doses of two different anticholinergics. The pre-treatment assessment included a complete urodynamic study and ultrasonography of the kidneys and urinary tract. A one-month follow-up was completed with urodynamic evaluation and the clinical response was evaluated through outpatient consultations and telephone contact. RESULTS: After the procedure, the maximum cystometric capacity and the bladder reflex volume increased, whereas the maximum detrusor pressure and compliance decreased. The mean duration of continence was 7 ± 7 months. In 18 patients (81.8 percent), it was necessary to administer anticholinergics to achieve continence. Five patients (22.7 percent) had indication of reinjection, and augmentation cystoplasty was indicated in 9 patients (40.9 percent). CONCLUSION: The use of botulinum toxin in the treatment of neurogenic detrusor overactivity refractory to anticholinergics is an option before more invasive treatments, such as augmentation cystoplasty, are attempted. In our study as well as in the literature, there was improvement in most urodynamic parameters. Overall, 40.9 percent of patients underwent augmentation cystoplasty and 81.8 percent of patients needed anticholinergic agents to reach urinary continence. Further studies are necessary to improve the procedure and to achieve better clinical results.

Ressecção cirúrgica de cisto ósseo aneurismático vertebral gigante em criança / Surgical resection of a giant spine aneurysmal bone cyst in a child

Introdução: O Cisto ósseo aneurismático é uma lesão óssea benigna e destrutiva de origem desconhecida. Os tratamentos atuais para esta doença incluem a ressecção em bloco, curetagem,embolização arterial seletiva e radioterapia. Um caso de cisto ósseo aneurismático gigante da coluna lombar é relatado.Método: Paciente de 15 anos de idade foi admitido com dor lombar e paraparesia com três meses de duração. Os exames radiológicos demonstraram uma lesão lítica expansiva nos processos espinhosos e lâminas da quarta e quinta vértebras lombares. A cirurgia consistiu da ressecção e instrumentação posterior com fusão de L2 até S1. A histopatologia demonstrou um cisto ósseo aneurismático. Após um ano de pós-operatório,o paciente melhorou a sua função neurológica, permanecendo apenas com uma paresia de L5 bilateral. Discussão: O tratamento do cisto ósseo aneurismático é desafiante, principalmente se próximo a estruturas neurais e vasculares. A fusão óssea e estabilização com instrumentação são frequentemente necessárias após a ressecção radical de tumores vertebrais extensos. Uma vértebra geralmente é acometida pelos cistos ósseos e lesões extensas são incomuns. A ressecção completado tumor e a fusão da coluna lombar com instrumentação permitiram a cura com preservação da estabilidade espinhal. As complicações neurológicas podem ser melhoradas com a retirada cirúrgica do tumor.

Lower urinary tract dysfunction in children with cerebral palsy.

AIMS: The focus of this study was to evaluate urodynamic findings and possible renal damage in children with cerebral palsy and urinary symptoms. METHODS: Children with cerebral palsy and lower urinary tract symptoms were studied. Patients were submitted to urodynamic evaluation, urine examination, measurement of serum creatinine, and renal and urinary tract ultrasonography. Voiding cystourethrography was performed on patients with urinary tract infections. RESULTS: Thirty-seven children were investigated, including 21 females and 16 males. The mean age was 7 years and 8 months [SD of 4 years 6 months], with a range from 1 to 17-year-old. The symptoms that led to evaluation were urinary infections in 21 56.7% cases, incontinence in 15 (40.5%) cases, increased voiding frequency in six (16%) cases, enuresis in five (13.5%) cases, and hesitancy and urgency in two (5.4%) cases each. The urodynamic findings involved reduced bladder capacity in 20 (54%) cases, with mean cystometric capacity of 168.0 +/- 122.2 ml. Detrusor overactivity was observed in 13 (35.1%) cases, with mean of 67.9 +/- 34.6 cmH(2)O. The range of the residual volume was 17.5 +/- 33.5 ml, which was increased in five (13.5%) cases. Low bladder compliance was seen in four (10.8%) patients, mean bladder compliance of 22.2 +/- 12.2 ml/cmH(2)O. No hydronephrosis or reflux was observed. CONCLUSION: Almost one-third of the patients with cerebral palsy and urinary symptoms presented with normal urodynamic findings. The most frequent findings were reduced bladder capacity, detrusor overactivity, and increased post-void residual. No urinary tract complications were observed.