A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.

In the rapidly evolving field of genomics, understanding the genetic basis of complex diseases like breast cancer, particularly its familial/hereditary forms, is crucial. Current methods often examine genomic variants-such as Single Nucleotide Variants (SNVs), insertions/deletions (Indels), and Copy Number Variations (CNVs)-separately, lacking an integrated approach. Here, we introduced a robust, flexible methodology for a comprehensive variants' analysis using Whole Exome Sequencing (WES) data. Our approach uniquely combines meticulous validation with an effective variant filtering strategy. By reanalyzing two germline WES datasets from BRCA1/2 negative breast cancer patients, we demonstrated our tool's efficiency and adaptability, uncovering both known and novel variants. This contributed new insights for potential diagnostic, preventive, and therapeutic strategies. Our method stands out for its comprehensive inclusion of key genomic variants in a unified analysis, and its practical resolution of technical challenges, offering a pioneering solution in genomic research. This tool presents a breakthrough in providing detailed insights into the genetic alterations in genomes, with significant implications for understanding and managing hereditary breast cancer.

Portable Head-Mounted System for Mobile Forearm Tracking.

Computer vision (CV)-based systems using cameras and recognition algorithms offer touchless, cost-effective, precise, and versatile hand tracking. These systems allow unrestricted, fluid, and natural movements without the constraints of wearable devices, gaining popularity in human-system interaction, virtual reality, and medical procedures. However, traditional CV-based systems, relying on stationary cameras, are not compatible with mobile applications and demand substantial computing power. To address these limitations, we propose a portable hand-tracking system utilizing the Leap Motion Controller 2 (LMC) mounted on the head and controlled by a single-board computer (SBC) powered by a compact power bank. The proposed system enhances portability, enabling users to interact freely with their surroundings. We present the system's design and conduct experimental tests to evaluate its robustness under variable lighting conditions, power consumption, CPU usage, temperature, and frame rate. This portable hand-tracking solution, which has minimal weight and runs independently of external power, proves suitable for mobile applications in daily life.

Patient-Therapist Cooperative Hand Telerehabilitation through a Novel Framework Involving the Virtual Glove System.

Telerehabilitation is important for post-stroke or post-surgery rehabilitation because the tasks it uses are reproducible. When combined with assistive technologies, such as robots, virtual reality, tracking systems, or a combination of them, it can also allow the recording of a patient's progression and rehabilitation monitoring, along with an objective evaluation. In this paper, we present the structure, from actors and functionalities to software and hardware views, of a novel framework that allows cooperation between patients and therapists. The system uses a computer-vision-based system named virtual glove for real-time hand tracking (40 fps), which is translated into a light and precise system. The novelty of this work lies in the fact that it gives the therapist quantitative, not only qualitative, information about the hand's mobility, for every hand joint separately, while at the same time providing control of the result of the rehabilitation by also quantitatively monitoring the progress of the hand mobility. Finally, it also offers a strategy for patient-therapist interaction and therapist-therapist data sharing.

Temporal discrimination in patients with dystonia and tremor and patients with essential tremor.

OBJECTIVE: To investigate whether psychophysical techniques assessing temporal discrimination could help in differentiating patients who have tremor associated with dystonia or essential tremor. METHODS: We tested somatosensory temporal discrimination thresholds (TDT) and temporal discrimination movement thresholds (TDMT) in 39 patients who had tremor associated with dystonia or essential tremor presenting with upper-limb tremor of comparable severity and compared their findings with those from a group of 25 sex- and age-matched healthy control subjects. RESULTS: TDT was higher in patients who had tremor associated with dystonia than in those with essential tremor and healthy controls (110.6 ± 31.3 vs 63.1 ± 15.2 vs 62.4 ± 9.2; p < 0.001). Conversely, TDMT was higher in patients with essential tremor than in those with tremor associated with dystonia and healthy controls (113.7 ± 14.7 vs 103.4 ± 11.3 vs 100.4 ± 4.2; p < 0.001). Combining the 2 tests in a pattern for essential tremor (abnormal TDMT/normal TDT) and tremor associated with dystonia (normal TDMT/abnormal TDT) yielded a positive predictive value (PPV) of 86.7% and a negative predictive value (NPV) of 70.8% for diagnosing essential tremor and a PPV of 100.0% and NPV of 74.1% for diagnosing tremor associated with dystonia. CONCLUSIONS: TDT and TDMT testing should prove a useful tool for differentiating tremor associated with dystonia and essential tremor. Our findings imply that the pathophysiologic mechanisms underlying tremor associated with dystonia differ from those for essential tremor.

Lateral trunk flexion in Parkinson's disease: EMG features disclose two different underlying pathophysiological mechanisms.

Pisa Syndrome is clinically defined as the sustained lateral bending of the trunk worsened by a prolonged sitting position or by walking. Pisa syndrome, also termed lateral trunk flexion (LTF), has been rarely reported in patients affected by Parkinson's disease (PD) and, therefore, the pathophysiology has been poorly investigated. In some cases, the hyperactivity of paravertebral muscles contralateral to the leaning side has been interpreted as a sign of dystonia; however, it is well known that paravertebral muscles flex the trunk ipsilaterally. We systematically explored the pattern of muscular activation underlying the lateral flexion of trunk in 10 PD patients (mean disease duration: 9.2 ± 3.0 years) presenting LTF for 3.6 ± 2.1 years. EMG performed during stance and during left and right lateral trunk flexion showed a continuous ipsilateral muscular hyperactivity in three patients, while in the remaining ones there was no ipsilateral activity during standing and a tonic contraction of paravertebral muscles contralateral to the leaning side. In conclusion, this EMG study investigating the synergies of paravertebral muscles during dynamic conditions detected two different patterns with a typical dystonic activation in only a minority of cases. Possible pathophysiologic mechanisms and treatment approaches are discussed.

Ataxia in posterior circulation stroke: clinical-MRI correlations.

OBJECTIVE: Ataxia is characterized clinically by four signs (gait and limb ataxia, dysarthria and nystagmus). Although ataxia has been described in posterior circulation (PC) stroke series, there are no prospective studies that have investigated a possible differential role of the cerebellum or its input/outputs in causing ataxia. METHODS: Ataxia was semi-quantified according to the International Cooperative Ataxia Rating Scale (ICARS) in 92 consecutive patients with acute PC stroke. Four topographical patterns based on magnetic resonance imaging (MRI) findings were identified: picaCH pattern (posterior inferior cerebellar artery infarct); scaCH pattern (superior cerebellar artery infarct); CH/CP pattern (infarct involving both the cerebellum and the brainstem cerebellar pathways); and CP pattern (infarct involving the brainstem cerebellar pathways). RESULTS: Gait ataxia was present in 95.7%, limb ataxia in 76.1%, dysarthria in 56.5% and nystagmus in 65.2% of patients. Gait ataxia frequency did not differ between the patterns, but was significantly more severe in the CH/CP pattern than in either picaCH (P=0.0059) or CP (P=0.0065) pattern. Limb ataxia was significantly less frequent (P<0.001) and less severe (P<0.001) in picaCH pattern than other patterns. Dysarthria was less frequent in picaCH pattern than in other patterns (P=0.018) and less severe than in scaCH (P=0.0043) or CP (P=0.0047) pattern. No differences in nystagmus frequency or severity were observed across all four patterns. CONCLUSION: In PC stroke gait ataxia was almost always present, regardless of the lesion site. Limb ataxia and dysarthria were less frequent in the picaCH pattern, whereas nystagmus, when present, did not differ among the topographical patterns.

Blue rubber bleb nevus syndrome with late onset of central nervous system symptomatic involvement.

Blue rubber bleb nevus syndrome is a rare vascular disorder characterized by cavernous angiomas of skin and other organs including the gastrointestinal tract. The central nervous system involvement is seldom reported, and neurological symptoms at onset in adulthood are extremely rare. Here, we describe a case of 82-year-old patient presenting multiple skin haemangiomas for some years, who was admitted for a brain hemorrhage. The MRI demonstrated the presence of multiple cavernous angiomas within the cerebral tissue.

Dide-Botcazo syndrome due to bilateral occlusion of posterior cerebral artery.

Dide-Botcazo syndrome is a rare clinical syndrome characterized by a combination of cortical blindness with anosognosia for blindness, amnesia and topographical disorientation, secondary to bilateral occipital cortex lesions also involving the infero-medial temporal lobe structure. We report a case of a man who acutely presented confusion and cortical blindness. The cerebral angiography demonstrated bilateral occlusion of posterior cerebral artery (PCA). Sequential intravenous (i.v.) and intra-arterial (i.a.) thrombolysis were ineffective and the patient developed a complete Dide-Botcazo syndrome.