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Linz, Austria

Rauchenzauner M.,Hospital Ostallgau Kaufbeuren | Fruhwirth M.,Hospital St Vinzenz | Kofler M.,Hochzirl Hospital | Witsch-Baumgartner M.,Innsbruck Medical University | Fauth C.,Innsbruck Medical University
Neuropediatrics | Year: 2016

We report a girl with autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) who presented with asymmetric gait impairment, foot drop, and action myotonia on fast handgrip. Electrophysiological studies showed symmetrical axonal motor greater than sensory neuropathy, and neuromyotonic discharges on needle electromyography. ARAN-NM was confirmed by molecular genetic testing, which revealed a novel homozygous missense variant c.100G > A [p.(Glu34Lys)] in HINT1. This case shows that the diagnosis of ARAN-NM, as a new entity, has to be considered in the differential diagnosis of polyneuropathy in combination with neuromyotonia/action myotonia in children, even with asymmetric clinical presentation.


Pichler R.,Innsbruck Medical University | Heidegger I.,Innsbruck Medical University | Schlenck B.,Innsbruck Medical University | Horninger W.,Innsbruck Medical University | Oswald J.,Hospital St Vinzenz
Scandinavian Journal of Urology | Year: 2014

Objective. The aim of this study was to evaluate the clinical outcome after endoscopic therapy by injection of bulking agent in the treatment of occult vesicoureteral reflux (VUR) [no VUR on standard voiding cystourethrography (VCUG), but positive 99mTc-2,3-dimercaptosuccinic acid (DMSA) scan] in females who have recurrent febrile urinary tract infections (UTIs). Material and methods. A case series was retrospectively identified of 24 females (mean age 15.5 years) with negative VCUG, but renal scars in one (n = 4) or both (n = 20) kidneys on DMSA scan. Endoscopic injection was performed bilaterally in 20 (83.3%) and unilaterally in four patients (16.7%). The incidence of postoperative UTIs was documented with a mean follow-up of 2.5 years (range 1-6 years). Results. The mean renal part function (DMSA scan) on the left and right sides was 53.5% (15-74%) and 47.3% (26-85%), respectively. Twenty-one out of 24 patients (87.5%) showed no evidence of any febrile UTIs postoperatively. One patient (4.2%) experienced a further febrile UTI 6 months after treatment. Two other patients (8.3%) had one questionable afebrile UTI, 4 and 3 years after therapy. Pressure-flow electromyography confirmed a dysfunctional voiding pattern in 12 patients (50%) treated with pelvic floor therapy and behavioural interventions before endoscopic therapy. Conclusions. Injection of bulking agent seems to be a suitable treatment for occult VUR in females to prevent further febrile UTIs. Patients with occult VUR should undergo a careful evaluation of possible urodynamic disorders such as dysfunctional voiding. These findings should be studied in prospective trials before drawing any conclusions. © 2014 Informa Healthcare.


Heidegger I.,Innsbruck Medical University | Pichler R.,Innsbruck Medical University | Muller B.,Innsbruck Medical University | Klocker H.,Innsbruck Medical University | And 6 more authors.
World Journal of Urology | Year: 2013

Objective: To investigate the prevalence of human papillomavirus (HPV) in prepuces of asymptomatic boys and men, the present study was designed. Methods: Two hundred and fifty male prepuce specimens who underwent circumcision due to phimosis were collected. Samples were subdivided into groups regarding their age: children (group I, 0-10 years), adolescents (group II, 11-20 years) and adults (group III, >20 years). HPV High Screen Real-TM Quant 2x kit detecting HPV 6 and 11 (low risk) as well as another kit for identification of HPV 16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58 and 59 (high risk) were used. Additionally, a Taq Man assay has been designed targeting the L1 gene of HPV 6, 11, 16 and 18. Results: Evaluating the number of low-risk HPV subtypes, we found HPV 6 and 11 in 5.3 % of samples (n = 12/226). Concerning high-risk HPV, we found a positivity in 4 % of samples (n = 9/224). In contrast to low-risk data where no age distribution was observed, we found an age-specific accumulation of high-risk HPV subtypes in the children group (n = 6/9). A second independent assay (Taq Man PCR assay) measuring HPV 6, 11, 16 and 18 of all positive samples confirmed only the high-risk HPV subtypes of the Real-TM Quant 2x assay. Conclusions: Our study provides evidence that qPCR estimation for HPV infection obviously underestimates the incidence rate of infected prepuces in boys and men with phimosis. Contrary, an overestimation of the HPV infection rate with the in situ hybridization method of phimotic prepuces cannot be excluded. © 2013 Springer-Verlag Berlin Heidelberg.

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