Inherited ataxias are heterogeneous disorders affecting both children and adults. The primary cause can be identified in about half of the children and the hit rate is even lower in adults. In 22 patients with unexplained recessive or sporadic ataxia sequencing of known coenzyme Q10 (CoQ10) deficiency genes detected CABC1/ADCK3 mutations in six patients (four families), who presented with cerebellar ataxa, epilepsy, spasticity and muscle symptoms. Two patients had a later onset (15 and 27 years) with mild disease. It is extremely important to screen for CABC1/ADCK3 mutations in ataxia, because is potentially treatable and it can present in adult life.
The response rate to the questionnaire was 78% (344 men). Patients with prostates of >75 g were older, with a median (range) age of 65 (51-74) years, than the other group, at 61 (40-76) years ( P = 0.01), and had higher initial prostate-specific antigen (PSA) levels, at 9.6 (3.4-37.8) and 7.6 (0.1-30.0) ng/mL, respectively ( P = 0.001). Tumours within larger prostates were of a lower stage ( P = 0.035), lower Gleason grade (median 6 and 7, P = 0.015), of smaller volume (median 1.0, 0.1-12.4; and 1.5, 0.1-21.1 mL; P = 0.04) and more often 'clinically insignificant' (23% and 6%, P = 0.001). There was no difference in the number or distribution of positive surgical margins. For a limited median follow-up of 20-25 months, patients with prostates of >75 g were less likely to have biochemical recurrence (5% vs 24%, P < 0.001). Potency and continence rates were similar between the groups. CONCLUSIONSProstate size at RRP does not affect the risk of impotence or incontinence afterward. A prostate of >75 g is associated with a lower likelihood of PSA-relapse, potentially as a result of lead-time bias. While an enlarged prostate may contraindicate other potentially curative cancer treatments, the outcomes of RRP appear to be unaffected. KEYWORDSprostatic neoplasm, volume, prostatectomy, incontinence, erectile dysfunction OBJECTIVESTo determine the effect of a large prostate at radical retropubic prostatectomy (RRP) on the pathological outcome, biochemical recurrence rates, potency and continence. PATIENTS AND METHODSFrom a database of 440 patients treated with RRP, retrospective information was obtained on prostate weights, patient and tumour characteristics, and follow-up. Potency and continence after RRP was obtained using a self-reported validated questionnaire. Patients with prostates of >75 or ≤ 75 g were compared. RESULTSThe median (range) prostate size was 87 (76-182) and 42 (4.1-75) g in the two groups.
These observations highlight the importance of screening for a potentially treatable cause, CABC1/ADCK3 mutations, not only in severe childhood-onset ataxia, but also in patients with mild cerebellar ataxia in adult life.
OBJECTIVE To review the outcomes of all patients referred with vesico‐vaginal (V VF) and urethro‐vaginal (UVF) fistulae to a tertiary centre, and to investigate the patient, fistula and surgical factors relevant to success. PATIENTS AND METHODS We reviewed retrospectively the case‐notes of 41 consecutive patients (32 with V VF; nine with UVF) treated between January 2000 and January 2006. RESULTS All patients were tertiary referrals, eight after failed local repairs. Four patients were unsalvageable and had a supravesical diversion. In all there were 47 repairs (23 transvaginal; 24 transabdominal) on 37 patients by two specialist surgeons. The fistula was closed in 92%; five V VF and one UVF required a second procedure, and one V VF a third procedure. One patient with a V VF awaits a second attempt at repair. In one V VF (one attempt) and one UVF (three attempts) the procedure failed and the patient had a diversion. A transvaginal approach cured all 11 patients with a V VF and eight of nine with a UVF, whilst an abdominal approach used for larger/complex fistulae was successful in 18 of 24 (75%) attempts (P = 0.13). The major determinants of success were fistula size (>3 cm; P = 0.02) and the availability of tissue for interposition. V VF repairs using Martius/omental interposition were mostly successful, whilst abdominal repairs in which omentum was unavailable tended to fail (37.5% cure; P = 0.002). CONCLUSIONS Despite varied aetiology, V VF/UVF were repaired successfully in 92% of patients. Complex (V VF) fistulae were challenging and a quarter of these required more than one attempt. Failure of repair was more likely in larger fistulae (>3 cm) requiring an abdominal approach, if omental interposition was not possible. Good‐quality tissue interposition for complex fistula is essential for a successful outcome.
Objective To evaluate the clinical and financial implications of a decade of prostate biopsies performed in the UK National Health Service (NHS) through the transrectal (TR) vs the transperineal (TP) route. Methods We conducted an evaluation of the TR vs the TP biopsy approach in the context of 28 days post‐procedure complications and readmissions. A secondary evaluation of burden of expenditure in NHS hospitals over the entire decade (2008–2019) was conducted through examination of national Hospital Episode Statistics (HES) data. Results In this dataset of 486 467 prostate biopsies (387 879 TR and 98 588 TP biopsies), rates of infection and sepsis were higher for the TR compared to the TP cohort (0.53% vs 0.31%; P < 0.001, confidence interval 99% ). Rates of sepsis have more than doubled for TR biopsies in the last 2 years compared to the previous decade (1.12% vs 0.53%). Infective complications were the main reasons for readmissions in the TR cohort, whereas urinary retention was the predominant reason for readmission in the TP cohort. Over the last decade, non‐elective (NEL) readmissions seem higher for the TP group; however, in the last 2 years these have reduced compared to the TR group (3.54% vs 3.74%). The cost estimates for NEL readmissions for the entire decade were £33,589,527.00 and £7,179,926.00 respectively, for TR and TP cohorts (P < 0.001). Estimated costs per patient readmission were £2,225.00 and £1,758.00 in the TR and TP groups (P < 0.001). Conclusions Evaluation of nearly half a million prostate biopsies in the NHS over the entire decade gives sufficient evidence for the distinct advantages of the TP route over the TR route in terms of reduced infections and burden of expenditure. In addition, there is a potential for savings both in upstream and downstream costs if biopsy is performed under a local anaesthetic.
What's known on the subject? and What does the study add? This is a review of urethral diverticula in females. In addition to modes of presentation, differential diagnosis, complications and surgical management, the increasingly recognised value of computerised axial imaging, especially with MRI, is highlighted. Urethral diverticula are rare but under‐diagnosed entities that may cause a variety of urinary and pelvic symptoms in women. They are best demonstrated by magnetic resonance imaging and micturating cysto‐urethrography prior to transvaginal surgical excision. Although unlikely, the possibility of malignant transformation should not be forgotten.
To assess the feasibility of local anaesthetic transperineal (LATP) technique using a single-freehand transperineal (TP) access device, and report initial prostate cancer (PCa) detection, infection rates, and tolerability. Patients and methodsObservational study of a multicentre prospective cohort, including all consecutive cases. LATP was performed in three settings: (i) first biopsy in suspected PCa, (ii) confirmatory biopsies for active surveillance, and (iii) repeat biopsy in suspected PCa. All patients received pre-procedure antibiotics according to local hospital guidelines. Local anaesthesia was achieved by perineal skin infiltration and periprostatic nerve block without sedation. Ginsburg protocol principles were followed for systematic biopsies including cognitive magnetic resonance imaging-targeted biopsies when needed using the PrecisionPoint TM TP access device. Procedure-related complications and oncological outcomes were prospectively and consecutively collected. A validated questionnaire was used in a subset of centres to collect data on patient-reported outcome measures (PROMs). ResultsSome 1218 patients underwent LATP biopsies at 10 centres: 55%, 24%, and 21% for each of the three settings, respectively. Any grade PCa was diagnosed in 816 patients (67%), of which 634 (52% of total) had clinically significant disease. Two cases of sepsis were documented (0.16%) and urinary retention was observed in 19 patients (1.6%). PROMs were distributed to 419 patients, with a 56% response rate (n = 234). In these men, pain during the biopsy was described as either 'not at all' or 'a little' painful by 64% of patients. Haematuria was the most common reported symptom (77%). When exploring attitude to re-biopsy, 48% said it would be 'not a problem' and in contrast 8.1% would consider it a 'major problem'. Most of the patients (81%) described the biopsy as a 'minor or moderate procedure tolerable under local anaesthesia', while 5.6% perceived it as a 'major procedure that requires general anaesthesia'. ConclusionOur data suggest that LATP biopsy using a TP access system mounted to the ultrasound probe achieves excellent PCa detection, with a very low sepsis rate, and is safe and well tolerated. We believe a randomised controlled trial comparing LATP with transrectal ultrasound-guided biopsy (TRUS) to investigate the relative trade-offs between each biopsy technique would be helpful.
2012 83: 572-573 originally published J Neurol Neurosurg Psychiatry http://jnnp.bmj.com/content/83/5/572 Updated information and services can be found at: These include: Material Supplementary html http://jnnp.bmj.com/content/suppl/2011/10/08/jnnp-2011-300285.DC1.
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