Uma apresentação clínica atípica para o primeiro isolamento do herpesvirus canino 1 na Argentina

Canid herpesvirus 1 (CaHV-1) is a Varicellovirus of the subfamily Alphaherpesvirinae, family Herpesviridae, and order Herpesvirales, with a host range restricted to domestic and wild canids (Remond et al., 1996). CaHV-1 was first recognized as the agent responsible for causing a highly fatal hemorrhagic viral disease in newborn puppies in 1965. Apart from being an important disease in newborn puppies, CaHV-1 also affects reproduction of dogs in other ways: the virus may cause vesicular lesions in the vestibulum and vagina of the bitch, as well as on the penis and the preputial mucosa of dogs and may cause embryonic resorption, abortion, and fetal death (Carmichael, 1970).Facultad de Ciencias Veterinaria

Uma apresentação clínica atípica para o primeiro isolamento do herpesvirus canino 1 na Argentina

Canid herpesvirus 1 (CaHV-1) is a Varicellovirus of the subfamily Alphaherpesvirinae, family Herpesviridae, and order Herpesvirales, with a host range restricted to domestic and wild canids (Remond et al., 1996). CaHV-1 was first recognized as the agent responsible for causing a highly fatal hemorrhagic viral disease in newborn puppies in 1965. Apart from being an important disease in newborn puppies, CaHV-1 also affects reproduction of dogs in other ways: the virus may cause vesicular lesions in the vestibulum and vagina of the bitch, as well as on the penis and the preputial mucosa of dogs and may cause embryonic resorption, abortion, and fetal death (Carmichael, 1970).Facultad de Ciencias Veterinaria

The diagnostic accuracy of the small fiber neuropathy symptoms inventory questionnaire (SFN-SIQ) for identifying pure small fiber neuropathy

A definite diagnosis of pure small fiber neuropathy (SFN) relies on specific diagnostic testing, such as skin biopsy, quantitative sensory testing (QST), and nociceptive evoked potentials, which require considerable resources that may not be widely available. Accordingly, diagnostic tools with easy implementation in non-specialist centers are warranted to identify patients who require second-level diagnostic tests. In this study, we aimed to test the accuracy of the Small Fiber Neuropathy Symptoms Inventory Questionnaire (SFN-SIQ) in diagnosing pure SFN. We enrolled 86 patients with suspected pure SFN. In these patients, we calculated the diagnostic accuracy of the SFN-SIQ using a combination of clinical examination, QST, and skin biopsy as a reference standard. We found that the SFN-SIQ showed an excellent ability to discriminate between patients with and without pure SFN, with 86% sensitivity and 70% specificity in the diagnosis of pure SFN. Our study providing the diagnostic yield of the SFN-SIQ for pure SFN diagnosis suggests that this questionnaire might be used to screen patients with suspected SFN and identify those requiring second-level diagnostic tests such as QST, skin biopsy, or nociceptive evoked potentials

GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome

OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques. RESULTS: Patients first presented in early childhood (median age of presentation 10 months, range 0-48 months), with a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior, and epileptic encephalopathy to a milder phenotype, featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy. Hyperkinetic movements were often exacerbated by specific triggers, such as voluntary movement, intercurrent illnesses, emotion, and high ambient temperature, leading to hospital admissions. Most patients were resistant to drug intervention, although tetrabenazine was effective in partially controlling dyskinesia for 2/7 patients. Emergency deep brain stimulation (DBS) was life saving in 1 patient, resulting in immediate clinical benefit with complete cessation of violent hyperkinetic movements. Five patients had well-controlled epilepsy and 1 had drug-resistant seizures. Structural brain abnormalities, including mild cerebral atrophy and corpus callosum dysgenesis, were evident in 5 patients. One patient had a diffuse astrocytoma (WHO grade II), surgically removed at age 16. CONCLUSIONS: Our findings support the causative role of GNAO1 mutations in an expanded spectrum of early-onset epilepsy and movement disorders, frequently exacerbated by specific triggers and at times associated with self-injurious behavior. Tetrabenazine and DBS were the most useful treatments for dyskinesia

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia

Dominant GNAO1 mutations cause an emerging group of childhood-onset neurological disorders characterized by developmental delay, intellectual disability, movement disorders, drug-resistant seizures and neurological deterioration. GNAO1 encodes the α-subunit of an inhibitory GTP/GDP-binding protein regulating ion channel activity and neurotransmitter release. The pathogenic mechanisms underlying GNAO1-related disorders remain largely elusive and there are no effective therapies. Here, we assessed the functional impact of two disease-causing variants associated with distinct clinical features, c.139A > G (p.S47G) and c.662C > A (p.A221D), using Caenorhabditis elegans as a model organism. The c.139A > G change was introduced into the orthologous position of the C. elegans gene via CRISPR/Cas9, whereas a knock-in strain carrying the p.A221D variant was already available. Like null mutants, homozygous knock-in animals showed increased egg laying and were hypersensitive to aldicarb, an inhibitor of acetylcholinesterase, suggesting excessive neurotransmitter release by different classes of motor neurons. Automated analysis of C. elegans locomotion indicated that goa-1 mutants move faster than control animals, with more frequent body bends and a higher reversal rate and display uncoordinated locomotion. Phenotypic profiling of heterozygous animals revealed a strong hypomorphic effect of both variants, with a partial dominant-negative activity for the p.A221D allele. Finally, caffeine was shown to rescue aberrant motor function in C. elegans harboring the goa-1 variants; this effect is mainly exerted through adenosine receptor antagonism. Overall, our findings establish a suitable platform for drug discovery, which may assist in accelerating the development of new therapies for this devastating condition, and highlight the potential role of caffeine in controlling GNAO1-related dyskinesia

Pain associated with COVID-19 vaccination is unrelated to skin biopsy abnormalities

Previous clinical observations raised the possibility that COVID-19 vaccination might trigger a small-fibre neuropathy.Objectives:In this uncontrolled observational study, we aimed to identify small fibre damage in patients complaining of generalized sensory symptoms and pain after COVID-19 vaccination.Methods:We collected clinical data, including a questionnaire for assessing autonomic symptoms (Composite Autonomic Symptom Score-31), and investigated quantitative sensory testing (QST) and skin biopsy in 15 prospectively enrolled patients with generalized sensory symptoms and pain after COVID-19 vaccination. Nine patients complaining of orthostatic intolerance also underwent cardiovascular autonomic tests.Results:We found that all patients experienced widespread pain, and most of them (11 of 15) had a fibromyalgia syndrome. All patients had normal skin biopsy findings, and in the 9 patients with orthostatic intolerance, cardiovascular autonomic tests showed normal findings. Nevertheless, 5 patients had cold and warm detection abnormalities at the QST investigation.Conclusions:In our study, most patients complaining of generalized sensory symptoms and pain after COVID-19 vaccination had clinical and diagnostic test findings compatible with a fibromyalgia syndrome. Although the abnormal QST findings we found in 5 patients might be compatible with a small-fibre neuropathy, they should be cautiously interpreted given the psychophysical characteristics of this diagnostic test. Further larger controlled studies are needed to define precisely the association between small fibre damage and COVID-19 vaccination

Greenlight laser™ photovaporization versus transurethral resection of the prostate: A systematic review and meta-analysis

none9GreenLight laser™ photovaporization of the prostate (GLL-PVP) has become a valid alternative to traditional transurethral resection of the prostate (TURP) in men requiring surgery for benign prostatic hyperplasia. We aimed to review systematically the safety and efficacy of studies comparing GLL PVP and TURP in the medium-term. A comprehensive literature search was performed. Twelve studies were identified for meta-analysis. Meta-analyses showed a longer postoperative catheterization time (risk ratio (RR): 1.12, 95% CI:1.09–1.14, p<0.00001) and length of stay (RR: 1.16, 95% CI:1.12–1.19, p<0.00001) in the TURP group; higher risk of transfusion in the TURP group (RR: 6.51, 95% CI: 2,90–14,64 p<0.00001); no difference in the risk of urinary tract infections (RR: 0.83, 95% CI: 0.58–1.18, p=0.30) and transient re-catheterization (RR: 1.11, 95% CI: 0.76–1.60, p=0.60). Regarding reoperation rate, no difference was found in term of postoperative urethral stricture (RR: 1.13, 95% CI: 0.73–1.75, p=0.59) and bladder neck contracture (RR: 0.66, 95% CI: 0.31–1.40, p=0.28). A significantly higher incidence in reoperation for persistent/regrowth adenoma was present in the GLLL-PVP (RR: 0.64, 95% CI: 0.41–0.99, p=0.05). Data at 2-year follow-up showed significant better post-voiding residual (PVR) (MD:-1.42, 95% CI:-2.01,-0.82, p<0.00001) and International Prostate Symptom Score (IPSS) (MD:-0.35, 95% CI:-0.50,-0.20, p<0.00001) after TURP. No difference was found in the mean PVR at 2 years after TURP, in the mean maximum flow rate (Qmax) (MD: 0.30, 95% CI:-0.02–0.61, p=0.06) and quality of life QoL score (MD: 0.05, 95% CI:-0.02–0.42, p=0.13). At 5-year follow-up, data showed better IPSS (MD:-1.70, 95% CI:-2.45,-0.95, p<0.00001), QoL scores (MD:-0.35, 95% CI:-0.69,-0.02, p=0.04) and Qmax (MD: 3.29, 95% CI: 0.19–6.38, p=0.04) after TURP. Data of PVR showed no significant difference (MD:-11.54, 95% CI:-29.55–6.46, p=0.21). In conclusion, our analysis shows that GLL-PVP is a safer and more efficacious procedure than standard TURP in the early and medium-term. However, in the long term period GLL-PVP showed a higher incidence of reoperation rate due to incomplete vaporization/regrowth of prostatic adenoma.openCastellani D.; Pirola G.M.; Rubilotta E.; Gubbiotti M.; Scarcella S.; Maggi M.; Gauhar V.; Teoh J.Y.-C.; Galosi A.B.Castellani, D.; Pirola, G. M.; Rubilotta, E.; Gubbiotti, M.; Scarcella, S.; Maggi, M.; Gauhar, V.; Teoh, J. Y. -C.; Galosi, A. B

Analysis of the antibiotic resistance profiles in methicillin-sensitive s. Aureus pathotypes isolated on a commercial rabbit farm in Italy

The breeding of meat rabbits is an important sector in the livestock industry in Italy. The focus of this study was to describe the antibiotic resistance profile distribution among the Methicillin-sensitive Staphylococcus aureus isolated in a rabbit farm. From 400 animals of different ages and three farm workers, 96 randomly selected strains isolated from various anatomical sites and lesions were analysed. According to spa typing and the resistance profiles towards veterinary and human antibiotics, 26 pathotypes were identified. The highest resistance was observed against Tetracyclines (92.3%) and Macrolides (80.8%), while almost all were susceptible to Penicillins, according to the limited use of β-lactams on the farm. In total, 92.3% of pathotypes were multidrug resistant (MDRs). Two MDR pathotypes belonging to the t2802 spa type were isolated from both farmers and rabbits. Age categories harboured significantly different pathotypes (p = 0.019), while no association was found between pathotypes and lesions (p = 0.128) or sampling sites (p = 0.491). The antibiotic resistance was observed to increase with the time spent in the farm environment (age category). The selective pressure exerted by antibiotic use acted by giving advantage to more resistant strains rather than by lowering susceptibility to various drug categories within strains