Treatment of traumatic cranial fracture with sonic activated polymer pins and plates resorbable implants in a dog.

INTRODUCTION: The case report describes the use of ultrasound-activated resorbable implants for surgical repair of comminuted cranial fractures in a 10 years old medium sized mix-breed dog being injured from a horse kick.

INTRODUCTION: Ce rapport de cas décrit l'utilisation d'implants résorbables activés par ultrasons pour la réparation chirurgicale de fractures crâniennes comminutives chez un chien de race moyenne âgé de 10 ans, blessé par un coup de pied de cheval.

Long-term urological outcome of cloaca patients with multidisciplinary management.

PURPOSE: Urological management of Cloacal Malformation (CM) focuses on preserving renal function and continence. Study aim was to analyze urinary and intestinal outcomes in CM patients, considering the length of common channel (CC) and presence of occult spinal dysraphism (OSD). METHODS: Retrospective review of CM treated at our institution by a multidisciplinary team from 1999 to 2020. Patients with follow-up < 2.5 years were excluded. Length of CC, renal function, urinary and bowel outcomes, presence of associated anomalies (especially OSD) were evaluated. RESULTS: Twenty patients were included, median age at follow-up: 8 years (4-15). A long CC > 3 cm was described in 11 (55%). Chronic kidney disease was found in 3 patients. Urinary continence was achieved in 8/20 patients, dryness (with intermittent catheterization) in 9/20. Fecal continence was obtained in 3/20, cleanliness in 14 (under bowel regimen). OSD was present in 10 patients (higher prevalence in long-CC, 73%). Among OSD, 1 patient reached fecal continence, 7 were clean; 2 achieved urinary continence, while 6 were dry. CONCLUSIONS: Length of CC and OSD may affect urinary and fecal continence. An early counseling can improve outcome at long-term follow-up. Multidisciplinary management with patient centralization in high grade institutions is recommended to achieve better results.

Concomitant TP53 mutation in early-stage resected EGFR-mutated non-small cell lung cancer: a narrative approach in a genetically admixed Brazilian cohort.

TP53 mutations are frequent in non-small cell lung cancer (NSCLC) and have been associated with poor outcome. The prognostic and predictive relevance of EGFR/TP53 co-mutations in NSCLC is controversial. We analyzed lung tissue specimens from 70 patients with NSCLC using next-generation sequencing to determine EGFR and TP53 status and the association between these status with baseline patient and tumor characteristics, adjuvant treatments, relapse, and progression-free (PFS) and overall survival (OS) after surgical resection. We found the EGFR mutation in 32.9% of patients (20% classical mutations and 12.9% uncommon mutations). TP53 missense mutations occurred in 25.7% and TP53/EGFR co-mutations occurred in 43.5% of patients. Stage after surgical resection was significantly associated with OS (P=0.028). We identified an association between progression-free survival and poor outcome in patients with distant metastases (P=0.007). We found a marginally significant difference in OS between genders (P=0.057) and between mutant and wild type TP53 (P=0.079). In univariate analysis, distant metastases (P=0.027), pathological stage (IIIA-IIIB vs I-II; P=0.028), and TP53 status (borderline significance between wild type and mutant; P=0.079) influenced OS. In multivariable analysis, a significant model for high risk of death and poor OS (P=0.029) selected patients in stage IIIA-IIIB, with relapse and distant metastases, non-responsive to platin-based chemotherapy and erlotinib, with tumors harboring EGFR uncommon mutations, with TP53 mutant, and with EGFR/TP53 co-mutations. Our study suggested that TP53 mutation tends to confer poor survival and a potentially negative predictive effect associated with a non-response to platinum-based chemotherapy and erlotinib in early-stage resected EGFR-mutated NSCLC.

Clinical outcome of Brazilian patients with non-small cell lung cancer in early stage harboring rare mutations in epidermal growth factor receptor.

The common epidermal growth factor receptor (EGFR) mutations, such as the L858R point mutation in exon 21 and the in-frame deletional mutation in exon 19, have been definitively associated with response to EGFR-tyrosine kinase inhibitors (EGFR-TKI). However, the clinical outcome and response to treatment for many other rarer mutations are still unclear. In this study, we report the results of Brazilian patients in stage IB-IIIA non-small cell lung cancer (NSCLC) following complete resection with minimal residual disease and EGFR mutations treated with adjuvant chemotherapy and/or EGFR-TKIs. The frequency of EGFR mutations was investigated in 70 cases of early stage NSCLC. Mutations in exons 18 and 20, uncommon mutations in exons 19 and 21, as well as in exons 3, 7, 14, 16, 22, 27, and 28, and/or the presence of different mutations in a single tumor (complex mutations) are considered rare. EGFR mutations were detected in 23 tumors (32.9%). Fourteen cases carried rare mutations and were treated with platinum-based chemotherapy and two cases were treated with erlotinib. The clinical outcome is described case by case with references to the literature. Notably, we found two rare EGFR mutations and one of them with an unknown response to chemotherapy and/or EGFR-TKIs. We have provided complementary information concerning the clinical outcome and treatment of patients with early stage NSCLC for several rare EGFR mutations not previously or only rarely reported. Description of cases harboring rare mutations can support the decision-making process in this subset of patients.

Concomitant TP53 mutation in early-stage resected EGFR-mutated non-small cell lung cancer: a narrative approach in a genetically admixed Brazilian cohort

TP53 mutations are frequent in non-small cell lung cancer (NSCLC) and have been associated with poor outcome. The prognostic and predictive relevance of EGFR/TP53 co-mutations in NSCLC is controversial. We analyzed lung tissue specimens from 70 patients with NSCLC using next-generation sequencing to determine EGFR and TP53 status and the association between these status with baseline patient and tumor characteristics, adjuvant treatments, relapse, and progression-free (PFS) and overall survival (OS) after surgical resection. We found the EGFR mutation in 32.9% of patients (20% classical mutations and 12.9% uncommon mutations). TP53 missense mutations occurred in 25.7% and TP53/EGFR co-mutations occurred in 43.5% of patients. Stage after surgical resection was significantly associated with OS (P=0.028). We identified an association between progression-free survival and poor outcome in patients with distant metastases (P=0.007). We found a marginally significant difference in OS between genders (P=0.057) and between mutant and wild type TP53 (P=0.079). In univariate analysis, distant metastases (P=0.027), pathological stage (IIIA-IIIB vs I-II; P=0.028), and TP53 status (borderline significance between wild type and mutant; P=0.079) influenced OS. In multivariable analysis, a significant model for high risk of death and poor OS (P=0.029) selected patients in stage IIIA-IIIB, with relapse and distant metastases, non-responsive to platin-based chemotherapy and erlotinib, with tumors harboring EGFR uncommon mutations, with TP53 mutant, and with EGFR/TP53 co-mutations. Our study suggested that TP53 mutation tends to confer poor survival and a potentially negative predictive effect associated with a non-response to platinum-based chemotherapy and erlotinib in early-stage resected EGFR-mutated NSCLC.

Challenges in diagnosing a peripheral nerve sheath tumor of the ulnar nerve in a dog - a case report.

INTRODUCTION: In this case report we present the rare case of a distally located peripheral nerve sheath tumor (PNST) of the left ulnar nerve in a two-year-old female Rottweiler dog. We discuss the clinical and diagnostic findings and the challenges of the diagnosis. The dog was successfully treated with a limb sparing partial neurectomy. After surgery, the dog did not show any pain or lameness on long term follow-up.

INTRODUCTION: Dans ce rapport de cas, nous présentons le rare cas d'une tumeur périphérique de la gaine du nerf ulnaire/cubital gauche chez une chienne Rottweiler de deux ans. Nous discutons les résultats cliniques et diagnostiques et les défis liés au diagnostic. Le chien a été traité avec succès par une neurectomie partielle. Après la chirurgie, lors du suivi à long terme, le chien n'a plus présenté ni de douleur ni de boiterie.

Clinical outcome of Brazilian patients with non-small cell lung cancer in early stage harboring rare mutations in epidermal growth factor receptor

The common epidermal growth factor receptor (EGFR) mutations, such as the L858R point mutation in exon 21 and the in-frame deletional mutation in exon 19, have been definitively associated with response to EGFR-tyrosine kinase inhibitors (EGFR-TKI). However, the clinical outcome and response to treatment for many other rarer mutations are still unclear. In this study, we report the results of Brazilian patients in stage IB-IIIA non-small cell lung cancer (NSCLC) following complete resection with minimal residual disease and EGFR mutations treated with adjuvant chemotherapy and/or EGFR-TKIs. The frequency of EGFR mutations was investigated in 70 cases of early stage NSCLC. Mutations in exons 18 and 20, uncommon mutations in exons 19 and 21, as well as in exons 3, 7, 14, 16, 22, 27, and 28, and/or the presence of different mutations in a single tumor (complex mutations) are considered rare. EGFR mutations were detected in 23 tumors (32.9%). Fourteen cases carried rare mutations and were treated with platinum-based chemotherapy and two cases were treated with erlotinib. The clinical outcome is described case by case with references to the literature. Notably, we found two rare EGFR mutations and one of them with an unknown response to chemotherapy and/or EGFR-TKIs. We have provided complementary information concerning the clinical outcome and treatment of patients with early stage NSCLC for several rare EGFR mutations not previously or only rarely reported. Description of cases harboring rare mutations can support the decision-making process in this subset of patients.

Sensor Noise in LISA Pathfinder: In-Flight Performance of the Optical Test Mass Readout.

We report on the first subpicometer interferometer flown in space. It was part of ESA's Laser Interferometer Space Antenna (LISA) Pathfinder mission and performed the fundamental measurement of the positional and angular motion of two free-falling test masses. The interferometer worked immediately, stably, and reliably from switch on until the end of the mission with exceptionally low residual noise of 32.0_{-1.7}^{+2.4} fm/sqrt[Hz], significantly better than required. We present an upper limit for the sensor performance at millihertz frequencies and a model for the measured sensitivity above 200 mHz.

Spatio-temporal parameters of ataxia gait dataset obtained with the Kinect.

Ataxic syndromes include several rare, inherited and acquired conditions. One of the main issues is the absence of specific, and sensitive automatic evaluation tools and digital outcome measures to obtain a continuous monitoring of subjects' motor ability. Gait evaluation was performed by Kinect v2 in a cohort of young participant affected by ataxia syndrome. The dataset is composed of the spatio-temporal parameters calculated by the skeleton acquired by the Kinect sensor, by the diagnosis of each participant, and by the total score of the clinical scale SARA. These parameters have been previously validated and corrected as requested by the Bland-Altman test.

Validation of low-cost system for gait assessment in children with ataxia.

BACKGROUND: Ataxic syndromes include several rare, inherited and acquired conditions. One of the main issues is the absence of specific, and sensitive automatic evaluation tools and digital outcome measures to obtain a continuous monitoring of subjects' motor ability. OBJECTIVES: This study aims to test the usability of the Kinect system for assessing ataxia severity, exploring the potentiality of clustering algorithms and validating this system with a standard motion capture system. METHODS: Gait evaluation was performed by standardized gait analysis and by Kinect v2 during the same day in a cohort of young patient (mean age of 13.8±7.2). We analyzed the gait spatio-temporal parameters and we looked at the differences between the two systems through correlation and agreement tests. As well, we tested for possible correlations with the SARA scale as well. Finally, standard classification algorithm and principal components analysis were used to discern disease severity and groups. RESULTS: We found biases and linear relationships between all the parameters. Significant correlations emerged between the SARA and the Speed, the Stride Length and the Step Length. PCA results, highlighting that a machine learning approach combined with Kinect-based evaluation shows great potential to automatically assess disease severity and diagnosis. CONCLUSIONS: The spatio-temporal parameters measured by Kinect cannot be used interchangeably with those parameters acquired with standard motion capture system in clinical practice but can still provide fundamental information. Specifically, these results might bring to the development of a novel system to perform easy and quick evaluation of gait in young patients with ataxia, useful for patients stratification in terms of clinical severity and diagnosis.

Analysis of the accuracy of actuation electronics in the laser interferometer space antenna pathfinder.

The Laser Interferometer Space Antenna Pathfinder (LPF) main observable, labeled Δg, is the differential force per unit mass acting on the two test masses under free fall conditions after the contribution of all non-gravitational forces has been compensated. At low frequencies, the differential force is compensated by an applied electrostatic actuation force, which then must be subtracted from the measured acceleration to obtain Δg. Any inaccuracy in the actuation force contaminates the residual acceleration. This study investigates the accuracy of the electrostatic actuation system and its impact on the LPF main observable. It is shown that the inaccuracy is mainly caused by the rounding errors in the waveform processing and also by the random error caused by the analog to digital converter random noise in the control loop. Both errors are one order of magnitude smaller than the resolution of the commanded voltages. We developed a simulator based on the LPF design to compute the close-to-reality actuation voltages and, consequently, the resulting actuation forces. The simulator is applied during post-processing the LPF data.

A large familial cluster and sporadic cases of frontal fibrosing alopecia in Brazil reinforce known human leucocyte antigen (HLA) associations and indicate new HLA susceptibility haplotypes.

BACKGROUND: Frontal fibrosing alopecia (FFA) is a lymphocytic scarring alopecia whose worldwide incidence is rising. Environmental triggers combined with genetic predisposition represent one of the current hypotheses in FFA aetiology. Familial clusters are opportunities to investigate the genetic basis of diseases. OBJECTIVES: Assess human leucocyte antigen (HLA) genetic variability in a Brazilian sample of a large familial cluster (six sisters and one daughter) with FFA, unnafected familiar members and sporadic cases of FFA. METHODS: We addressed the HLA-A, HLA-B, HLA-C, HLA-G and HLA-E genetic variability in this family and in seven sporadic FFA cases, comparing allele frequencies with those reported for the São Paulo State from Brazil. RESULTS: Two susceptibility haplotypes, C*17:01:01:02/B*42:01:01:01 and C*07:02:01:03/B*07:02:01:01, were identified among familial cases and also in sporadic cases. The first haplotype is rare among Brazilians, and it was not previously reported as being associated with FFA. Both alleles were found in some different unaffected familiars, what emphasizes the role of environmental triggers in disease development. HLA-A, HLA-G and HLA-E genes were not associated to familiar nor FFA sporadic cases. CONCLUSION: The identification of susceptibility haplotypes in FFA reinforces the genetic predisposition to the disease.

Examining Reliability and Validity of the Jebsen-Taylor Hand Function Test Among Children With Cerebral Palsy.

Manual dexterity has strongly predicted functional independence for daily life activities among children with cerebral palsy (CP). The Jebsen-Taylor Hand Function Test (JTHFT) is the most widely used assessment tool for exploring manual dexterity in the CP population, though no research has yet examined its psychometric properties for this use. This cross-sectional study explored the validity and internal consistency of the JTHFT in an Italian sample of inpatient and outpatient children with CP aged between 6-18 years (35 girls and 49 boys). We calculated internal consistency with Cronbach's alpha and tested validity against the Manual Ability Classification System (MACS) using Pearson's correlation coefficient. To better understand how the JTHFT compares with different levels of the MACS, we performed dominant hand timing variability for each test item. Results showed excellent internal consistency with a Cronbach's alpha of .944 and .911, respectively, for nondominant and dominant hands. There was also a statistically significant positive linear Pearson's correlation coefficient between the JTHFT and the MACS (p < .01). We observed high variability in writing performance (Item 1 of the JTHFT) within this sample for each level of the MACS. This study confirms that the JTHFT is a valid assessment tool when used in children with CP aged 6-18 years.

The psychosocial impact of assistive device scale: Italian validation in a cohort of nonambulant people with neuromotor disorders.

The importance of adaptive seating system on body structure and function is widely accepted, but its impact on psychosocial aspects needs more consideration by health professionals. This article describes the Italian validation of the Psychosocial Impact of Assistive Device Scale (IT-PIADS) for non-ambulant people with neuromotor disorders.Once agreement has been given by the original authors, the scale was translated and adapted to the Italian culture. The IT-PIADS was administered to different wheelchairs users with heterogeneous diagnosis. The internal consistency and test-retest reliability were examined. Its concurrent validity was evaluated with the Italian version of the WheelCon-M-SF.The IT-PIADS was administered to 87 subjects. Cronbach's α was 0.92 (p < 0.05), and the test-retest reliability (ICC) for competence, adaptability and self-esteem subscales were 0.96, 0.90, 0.93, respectively. The Pearson correlation coefficient of the IT-PIADS with the WheelCon-M-I-SF scores showed significant data for competence and adaptability subscales.Psychosocial perception on assistive devices can be reliably measure. The IT-PIADS showed good psychometric properties and it is possible to confirm its validity for clinical and research purposes. Nevertheless, before using this measure with greater confidence, further psychometric properties tests of the IT-PIADS are recommended.

[Treatment of a hip and patella luxation in a toy dog]. / Behandlung einer Hüftgelenks- und Kniescheiben-Luxation bei einer Zwerghunderasse.

INTRODUCTION: The present case report describes the surgical treatment of a traumatic craniodorsal luxation of the hip and a concomitant medial congenital luxation of the patella (3rd grade) in an 11-year-old Yorkshire Terrier. First the hip luxation was corrected with a cemented hip prosthesis. The femoral stem was inserted in slight anteversion (15°) with respect to the preoperative condition (5°), this contributed contrasting the medial traction of the femoral quadriceps on the patella, improving patellar luxation from 3rd to 2nd grade. However, the persistent patellar luxation and intermittent lameness reduced limb function and made a second intervention necessary. Four weeks after prosthetic surgery, a femoral trocleoplasty and lateral transposition of the tibial crest were performed to definitively re-establish a correct replacement of the patella in the femoral trochlea. No perioperative complications were found. At the final examination the patient did not show any lameness or pain that could be evoked when manipulating the surgically corrected limb. The surgical treatment allowed a restoration of the hip function and the alignment of the extensor mechanism of the femoral quadriceps and ensured a complete return to normal motor activities.

INTRODUCTION: Nous décrivons le traitement chirurgical d'une luxation traumatique cranio-dorsale de la hanche et d'une luxation patellaire de degré 3 concomitante chez un chien Yorkshire Terrier âgé de 11 ans. La luxation de la hanche a d'abord été traitée avec une prothèse totale cimentée. L'insertion de la tige fémorale en légère antéversion (15°) par rapport à l'état préopératoire (5°) contrecarrait la traction médiale des muscles quadriceps sur la rotule et réduisait la luxation patellaire du degré 3 au degré 2. Cependant la présence d'une boiterie intermittente due à la luxation patellaire de degré 2 persistante a réduit la fonction du membre et a rendu nécessaire une seconde intervention chirurgicale. Quatre semaines après le remplacement total de la hanche, une trochléoplastie fémorale et une transposition latérale de la crête tibiale ont été réalisées afin d'établir définitivement un alignement correct de la rotule dans la trochlée fémorale. Aucune complication périopératoire n'a été rencontrée. Lors de dernier contrôle, le patient ne présentait pas de boiterie ni de douleur lors de la manipulation du membre opéré Le traitement chirurgical a permis de rétablir la fonction de la hanche et d'aligner correctement le mécanisme extenseur des muscles quadriceps, tout en garantissant un retour complet du patient à une activité physique normale.

LISA Pathfinder Performance Confirmed in an Open-Loop Configuration: Results from the Free-Fall Actuation Mode.

We report on the results of the LISA Pathfinder (LPF) free-fall mode experiment, in which the control force needed to compensate the quasistatic differential force acting on two test masses is applied intermittently as a series of "impulse" forces lasting a few seconds and separated by roughly 350 s periods of true free fall. This represents an alternative to the normal LPF mode of operation in which this balancing force is applied continuously, with the advantage that the acceleration noise during free fall is measured in the absence of the actuation force, thus eliminating associated noise and force calibration errors. The differential acceleration noise measurement presented here with the free-fall mode agrees with noise measured with the continuous actuation scheme, representing an important and independent confirmation of the LPF result. An additional measurement with larger actuation forces also shows that the technique can be used to eliminate actuation noise when this is a dominant factor.

Natural history of a cohort of ABCD1 variant female carriers.

BACKGROUND AND PURPOSE: The therapeutic scenario of X-linked adrenoleukodystrophy (X-ALD) is rapidly changing. Whereas the disease is well characterized in men, the condition remains to be fully clarified in women carrying ATP binding cassette subfamily D member 1 (ABCD1) variants. Specifically, data on clinical progression are needed, in order to recommend any appropriate management. The objective of this study was to outline the natural history of a cohort of untreated ABCD1 heterozygous female carriers. METHODS: Longitudinal data from a single-center population of 60 carriers were retrospectively reviewed. Demographics, anthropometrics, serum very long chain fatty acid (VLCFA) levels, clinical parameters and the Adult ALD Clinical Score (AACS) were collected from every recorded visit in a 7-year period and analyzed to define the phenotype modifications, to determine factors associated with clinical features, and to estimate the annual progression rate and the subsequent sample size for interventional trials. RESULTS: Thirty-two patients were eligible for the study, and 59.4% were symptomatic at baseline. Clinical severity worsens with age which increases risk of symptom onset, the cut-off of 41 years being crucial for phenoconversion. VLCFA levels were not predictive and did not change over time. Symptomatic carriers were followed up for 3.45 ± 2.1 years. The AACS increased at an annual rate of 0.24 points. The estimated sample size for 30% reduction in annual progression at 80% power was 272. CONCLUSIONS: This study provides data on the natural disease progression of untreated ABCD1 heterozygous female carriers, demonstrating the relevance of aging. The estimated annual increase of the AACS will be useful for future interventional studies.