Degenerative lumbar scoliosis: features and surgical treatment

Degenerative lumbar scoliosis is a de novo deformity of the spine occurring after the fourth or fifth decade of life in patients with no history of scoliosis in the growing age. We evaluated complications and functional and radiographic outcomes of twelve patients with degenerative lumbar scoliosis, treated by spinal decompression associated with posterolateral and/or interbody fusion. Mean lumbar scoliosis angle was 18\ub0 (SD=4\ub0) and mean age at surgery was 57 years (SD=6 years). Average follow\u2013up was 3.5 years. Surgical treatment consisted in decompression of one or more roots, associated with stabilization with pedicle screws and posterolateral fusion. To correct the deformity, the collapse of the disc was corrected by implanting a cage in the anterior interbody cage. Clinical symptoms and functional tolerance for daily activities improved after surgery. Radiographic evaluation showed a reduction in the deformity on the frontal and sagittal planes. There were no infections, evidence of pseudoarthrosis, instrumentrelated failures or re\u2013operations in this series. In patients with persisting pain caused by degenerative scoliosis associated with spinal stenosis, in whom conservative treatment has failed, spinal decompression and segmented fusion with instrumentation represents a valid treatment option

Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection

BRCA-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk of developing other malignancies including cholangiocarcinoma (CCA). Somatic BRCA mutations have been reported in CCA, but they have yet to be utilized in a proband case to identify HBOC in families. Two healthy daughters of a deceased female patient who had had metachronous breast cancer and CCA received genetic counseling to assess their cancer risk. Somatic BRCA1/2 mutation analysis was performed by next-generation sequencing on the DNA extracted from a formalin-fixed, paraffin-embedded CCA biopsy specimen of their mother. A pathogenic variant was identified (c.6468_6469delTC in a BRCA2 gene mutation). Germline BRCA mutation analysis of the two daughters detected the same pathogenic variant in one of them. For the first time, a CCA somatic BRCA mutation has been used to identify a family with HBOC

Macropinocytotic uptake and infection of human epithelial cells with species B2 adenovirus type 35

The human adenovirus serotype 35 (HAdV-35, short Ad35) causes kidney and urinary tract infections, and infects respiratory organs of immunocompromised individuals. Unlike other adenoviruses, Ad35 has a low seroprevalence which makes Ad35-based vectors promising candidates for gene therapy. Ad35 utilizes CD46 and integrins as receptors for infection of epithelial and hematopoietic cells. Here, we show that infectious entry of Ad35 into HeLa, human kidney HK-2 cells and normal human lung fibroblasts strongly depended on CD46 and integrins but not heparan sulfate, and variably required the large GTPase dynamin. Ad35 infections were independent of expression of the carboxy-terminal domain of AP180 which effectively blocks clathrin-mediated uptake. Ad35 infections were inhibited by small chemicals against the serine/threonine kinase Pak1 (p21-activated kinase), protein kinase C (PKC), sodium-proton exchangers, actin and acidic organelles. Remarkably, the F-actin inhibitor jasplakinolide, the Pak1 inhibitor IPA-3 or the sodium-proton exchange inhibitor EIPA blocked the endocytic uptake of Ad35. Dominant-negative proteins or small interfering RNAs against factors driving macropinocytosis, including the small GTPase Rac1, Pak1 or the Pak1 effector C-terminal binding protein 1 (CtBP1) potently inhibited Ad35 infection. Confocal laser scanning microscopy, electron microscopy and live cell imaging showed that Ad35 colocalized with fluid phase markers in large endocytic structures that were positive for CD46, alpha v integrins and also CtBP1. Our results extend earlier observations with HAdV-3 (Ad3), and establish macropinocytosis as an infectious pathway for species B human adenoviruses in epithelial and hematopoietic cells

Use of remote sensing‑derived fPAR data in a grapevine simulation model for estimating vine biomass accumulation and yield variability at sub‑field level

Grapevine simulation models are mostly used to estimate plant development, growth and yield at plot scale. However, the spatial variability of pedologic and micro-climatic conditions can influence vine growth, leading to a sub-field heterogeneity in plant vigor and final yield that may be better estimated through the assimilation of high spatial resolution data in crop models. In this study, the spatial variability of grapevine intercepted radiation at fruit-set was used as input for a grapevine simulation model to estimate the variability in biomass accumulation and yield in two Tuscan vineyards (Sites A and B). In Site A, the model, forced with intercepted radiation data as derived from the leaf area index (LAI), measured at canopy level in three main vigor areas of the vineyard, provided a satisfactory simulation of the final pruning weight (r2 = 0.61; RMSE = 19.86 dry matter g m−2). In Site B, Normalized Difference Vegetation Index (NDVI) from Sentinel-2A images was firstly re-scaled to account for canopy fraction cover over the study areas and then used as a proxy for grapevine intercepted radiation for each single pixel. These data were used to drive the grapevine simulation model accounting for spatial variability of plant vigor to reproduce yield variability at pixel scale (r2 = 0.47; RMSE = 75.52 dry matter g m−2). This study represents the first step towards the realization of a decision tool supporting winegrowers in the selection of the most appropriate agronomic practices for reducing the vine vigor and yield variability at sub-field level

Biomarker phenotyping drives clinical management in axillary sentinel node: A retrospective study on women with primary breast cancer in 2002

The current study examined if cancer biomarker phenotyping could predict the clinical/pathological status of axillary nodes in women with primary breast cancer. Primary breast cancers from 2002 were analyzed for tumor size, estrogen receptor (ER), progesterone receptor (PgR), Ki.67MIB expression and Her2/neu amplification. Relationships between the clinical and pathological status of the axilla and the biological subtypes classification were analyzed using univariate, multivariate and regression tree analysis. A total of 65% of women with axillary nodes clinically involved had complete axillary node dissection (ALND) while 705 women with clinically negative axillary underwent sentinel lymph node biopsy (SLNB), 18.5% of the latter had at least one pathologically SLNB involved node. Multivariate analysis revealed that the Luminal A subtype was significantly associated (OR 0.62; P<10-9) with clinical negative axilla while HER2pos/not Luminal was associated with clinical positivity (OR 1.71; P<0.01). No significant association between biological subtypes and SLNB status was demonstrated. Regression tree analysis revealed that subgroups with significantly different probability of SLNB status were separated according to tumor size and PgR values. In conclusion, the current study demonstrated that biomarker breast cancer phenotyping is significantly associated with clinical status of axillary nodes but not with pathological involvement of nodes at SLNB. Regression tree analysis could represent a valid attempt to individualize some patients subgroups candidate to different surgical axilla approaches

Spectrum of germline pathogenic variants in brca1/2 genes in the apulian southern italy population: Geographic distribution and evidence for targeted genetic testing

BRCA1/2-associated hereditary breast and ovarian cancer is the most common form of hereditary breast and ovarian cancer and occurs in all ethnicities and racial populations. Different BRCA1/BRCA2 pathogenic variants (PVs) have been reported with a wide variety among populations. In this study, we retrospectively analyzed prevalence and geographic distribution of pathogenic germline BRCA1/2 variants in families from Apulia in southern Italy and evaluated the genotype–phenotype correlations. Data were collected from Oncogenetic Services present in Apulian hospitals and a shared database was built containing Apulian native probands (n = 2026) that had undergone genetic testing from 2004 to 2019. PVs were detected in 499 of 2026 (24.6%) probands and 68.5% of them (342 of 499) were in the BRCA1 gene. We found 65 different PVs in BRCA1 and 46 in BRCA2. There were 10 most recurrent PVs and their geographical distribution appears to be significantly specific for each province. We have assumed that these PVs are related to the historical and geopolitical changes that occurred in Apulia over time and/or to a “founder effect”. Broader knowledge of BRCA1/2 prevalence and recurring PVs in specific geographic areas could help establish more flexible genetic testing strategies that may enhance our ability to detect high-risk subjects

Improving procedural fidelity of behavioural interventions for people with intellectual and developmental disabilities: A systematic review

Background: Despite its importance within behavioural intervention, it remains unclear how best to achieve high procedural fidelity. This paper reviewed studies on improving procedural fidelity of behavioural interventions for individuals with intellectual and developmental disabilities (IDD). Method: A systematic literature search was conducted, which identified 20 studies meeting inclusion criteria. Data were extracted on study design, participant characteristics, intervention, target behaviours, effect sizes, maintenance, generalisation, and social validity. A quality rating was also applied. Results: A total of 100 participants took part in the included studies. Most participants were teachers working with children in school settings. There was a significant positive correlation between level of procedural fidelity and client outcomes. Feedback was the most commonly employed intervention to improve procedural fidelity. Conclusions: More research should be conducted in environments with high levels of variability such as community homes to determine how to reach and maintain high levels of procedural fidelity

Weak Lensing from Space I: Instrumentation and Survey Strategy

A wide field space-based imaging telescope is necessary to fully exploit the technique of observing dark matter via weak gravitational lensing. This first paper in a three part series outlines the survey strategies and relevant instrumental parameters for such a mission. As a concrete example of hardware design, we consider the proposed Supernova/Acceleration Probe (SNAP). Using SNAP engineering models, we quantify the major contributions to this telescope's Point Spread Function (PSF). These PSF contributions are relevant to any similar wide field space telescope. We further show that the PSF of SNAP or a similar telescope will be smaller than current ground-based PSFs, and more isotropic and stable over time than the PSF of the Hubble Space Telescope. We outline survey strategies for two different regimes - a ``wide'' 300 square degree survey and a ``deep'' 15 square degree survey that will accomplish various weak lensing goals including statistical studies and dark matter mapping.Comment: 25 pages, 8 figures, 1 table, replaced with Published Versio

Measurement of the angular correlation between the two gamma rays emitted in the radioactive decays of a 60^{60}Co source with two NaI(Tl) scintillator

We implemented a didactic experiment to study the angular correlation between the two gamma rays emitted in typical $^{60}$Co radioactive decays. We used two NaI(Tl) scintillators, already available in our laboratory, and a low-activity $^{60}$Co source. The detectors were mounted on two rails, with the source at their center. The first rail was fixed, while the second could be rotated around the source. We performed several measurements by changing the angle between the two scintillators in the range from $90^\circ$ to $180^\circ$. Dedicated background runs were also performed, removing the source from the experimental setup. We found that the signal rate increases with the angular separation between the two scintillators, with small discrepancies from the theoretical expectations.Comment: 15 pages, 12 figure