Emergence of power law distributions in protein-protein interaction networks through study bias.

Degree distributions in protein-protein interaction (PPI) networks are believed to follow a power law (PL). However, technical and study biases affect the experimental procedures for detecting PPIs. For instance, cancer-associated proteins have received disproportional attention.

Claudin-1 in Head and Neck Squamous Cell Carcinoma.

Introduction: The objective response rate to immunotherapy is limited in recurrent/metastatic head and neck squamous cell carcinoma (HNSCC) patients, whose prognosis is still dismal. Few prognostic factors are clinically available, mostly related to patient or disease characteristics. Gene expression signatures offer better prognostic abilities but are mainly used in research.

Considerations about the multidimensional evaluation of a stab wound tibial neuropathy: a case report.

We present a rare case of a traumatic lesion of the tibial fibers of the sciatic nerve with spared peroneal fibers. A 33-year-old victim of a three month earlier stabbing attack came to our attention with gait impairment and weakened left foot plantar flexion and left foot internal rotation and supination. Based upon clinical signs and neurophysiological investigations we suspected that a traumatic injury of the left tibial nerve had occurred.

Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy.

Background: To assess the ability of the 2021 European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) clinical criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) to include within their classification the whole spectrum of clinical heterogeneity of the disease and to define the clinical characteristics of the unclassifiable clinical forms.

Methods: The 2021 EAN/PNS clinical criteria for CIDP were applied to 329 patients fulfilling the electrodiagnostic (and in some cases also the supportive) criteria for the diagnosis of CIDP. Clinical characteristics were reviewed for each patient not strictly fulfilling the clinical criteria ('unclassifiable').

Drug repositioning by merging active subnetworks validated in cancer and COVID-19.

Computational drug repositioning aims at ranking and selecting existing drugs for novel diseases or novel use in old diseases. In silico drug screening has the potential for speeding up considerably the shortlisting of promising candidates in response to outbreaks of diseases such as COVID-19 for which no satisfactory cure has yet been found. We describe DrugMerge as a methodology for preclinical computational drug repositioning based on merging multiple drug rankings obtained with an ensemble of disease active subnetworks.

Finding disease modules for cancer and COVID-19 in gene co-expression networks with the Core&Peel method.

Genes are organized in functional modules (or pathways), thus their action and their dysregulation in diseases may be better understood by the identification of the modules most affected by the disease (aka disease modules, or active subnetworks). We describe how an algorithm based on the Core&Peel method is used to detect disease modules in co-expression networks of genes. We first validate Core&Peel for the general task of functional module detection by comparison with 42 methods participating in the Disease Module Identification DREAM challenge.

Visual cortex changes in children with sickle cell disease and normal visual acuity: a multimodal magnetic resonance imaging study.

The visual system is primarily affected in sickle cell disease (SCD), and eye examination is recommended starting in late childhood. So far, to our knowledge, all studies have focused on the retina, neglecting the changes that might be present in the cortical portion of the visual system. We performed a multimodal magnetic resonance imaging (MRI) evaluation of the visual cortex in 25 children with SCD (mean age: 12·3 ± 1·9 years) and 31 controls (mean age: 12·7 ± 1·6 years).

Distinct signatures of lung cancer types: aberrant mucin O-glycosylation and compromised immune response.

Background: Genomic initiatives such as The Cancer Genome Atlas (TCGA) contain data from -omics profiling of thousands of tumor samples, which may be used to decipher cancer signaling, and related alterations. Managing and analyzing data from large-scale projects, such as TCGA, is a demanding task. It is difficult to dissect the high complexity hidden in genomic data and to account for inter-tumor heterogeneity adequately.

New functionalities in the TCGAbiolinks package for the study and integration of cancer data from GDC and GTEx.

The advent of Next-Generation Sequencing (NGS) technologies has opened new perspectives in deciphering the genetic mechanisms underlying complex diseases. Nowadays, the amount of genomic data is massive and substantial efforts and new tools are required to unveil the information hidden in the data. The Genomic Data Commons (GDC) Data Portal is a platform that contains different genomic studies including the ones from The Cancer Genome Atlas (TCGA) and the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) initiatives, accounting for more than 40 tumor types originating from nearly 30000 patients.

Hypertensive Crisis with Neurological Impairment Mimicking a Guillain-Barrè Syndrome: Searching for a Link.

Guillain-Barré syndrome (GBS) may be complicated by severe hypertension (HT) and in turns severe HT can occur with neurological damage mimicking a GBS, so that underlying causes should be investigated. We describe a case of a 62-year-old woman presented to the emergency department for hypertensive crisis with symmetric flaccid paralysis, hypotonia and hyporeflexia of both upper and lower limbs. Brain computed tomography, magnetic resonance imaging and lumbar puncture were normal.

Computational Structural Biology of -nitrosylation of Cancer Targets.

Nitric oxide (NO) plays an essential role in redox signaling in normal and pathological cellular conditions. In particular, it is well known to react with cysteines by the so-called -nitrosylation reaction. -nitrosylation is a selective and reversible post-translational modification that exerts a myriad of different effects, such as the modulation of protein conformation, activity, stability, and biological interaction networks.

Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies.

Introduction: Nerve ultrasound in Charcot-Marie-Tooth (CMT) disease has focused mostly on the upper limbs. We performed an evaluation of a large cohort of CMT patients in which we sonographically characterized nerve abnormalities in different disease types, ages, and nerves.

Methods: Seventy patients affected by different CMT types and hereditary neuropathy with liability to pressure palsies (HNPP) were evaluated, assessing median, ulnar, fibular, tibial, and sural nerves bilaterally.

Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1.

Optic pathway glioma (OPG) represents the most common central nervous system tumor in children with Neurofibromatosis type-1 (NF1). Although overall survival is usually good, no clear prognostic factors have been identified so far. We assessed the natural history of OPG in a cohort of unselected patients affected by NF1.

Lenalidomide long-term neurotoxicity: Clinical and neurophysiologic prospective study.

Objective: To evaluate long-term lenalidomide neurotoxicity and correlation with cumulative dose and hematologic response.

Methods: Nineteen myeloma patients (7 men, mean age 63.2 years) underwent clinical and neurophysiologic assessment at baseline and at 2 (8 patients, group A) or 5 years (11 patients, group B) after starting lenalidomide therapy for relapsed/refractory multiple myeloma.

Cognition and the Default Mode Network in Children with Sickle Cell Disease: A Resting State Functional MRI Study.

Cerebrovascular complications are frequent events in children with sickle cell disease, yet routinely used techniques such as Transcranial Doppler (TCD), Magnetic Resonance (MRI) and Angiography (MRA), insufficiently explain the cause of poor cognitive performances. Forty children with SS-Sβ° (mean age 8 years) underwent neurocognitive evaluation and comprehensive brain imaging assessment with TCD, MRI, MRA, Resting State (RS) Functional MRI with evaluation of the Default Mode Network (DMN). Sixteen healthy age-matched controls underwent MRI, MRA and RS functional MRI.

Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1.

Neurofibromatosis type I is a genetic condition with an autosomal dominant transmission characterized by neurocutaneous involvement and a predisposition to tumor development. Central nervous system manifestations include benign areas of dysmyelination and possibly hazardous glial tumors whose clinical management may result challenging. Here, we report on three patients diagnosed with Neurofibromatosis type I whose brain MRI follow-up showed the presence of gadolinium-enhancing lesions which spontaneously regressed.

Neuroimaging in diagnosis of atypical polyradiculoneuropathies: report of three cases and review of the literature.

Neuroimaging is increasingly used in the study of peripheral nerve diseases, and sometimes may have a pivotal role in the diagnostic process. We report on three patients with atypical chronic inflammatory polyradiculoneuropathy (CIDP) in whom magnetic resonance imaging (MRI) and nerve Ultrasound (US) were crucial for a correct diagnostic work-out. A literature review on MRI and US in acquired demyelinating polyneuropathies is also provided.

Polyneuropathy with anti-sulfatide and anti-MAG antibodies: clinical, neurophysiological, pathological features and response to treatment.

IgM paraproteins often present reactivity to myelin-associated glycoprotein (MAG) and sulfatide. We describe the clinical and neurophysiological findings, and therapy response in 21 patients with IgM paraproteinemic neuropathy (15 with anti-MAG antibodies, 1 with anti-sulfatide antibodies, and 5 with both reactivity), and in 2 with anti-sulfatide positivity and no hematological disease. All patients complained of sensory symptoms, the majority had demyelinating neuropathy.

Long-term plasma exchange in pediatric CIDP.

Therapeutic plasma exchange (TPE) is not frequently used in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) because it usually gives only a short-term benefit. We report on a 16-year-old boy with renal insufficiency undergoing hemodialysis who developed CIDP and underwent TPE with dramatic long-term response to therapy. Nerve ultrasound and MRI findings are also reported.

Pentraxin-3 and VEGF in POEMS syndrome: a 2-year longitudinal study.

Circulating Pentraxin 3 (PTX3) and vascular endothelial growth factor (VEGF) levels were measured longitudinally (mean follow-up 2 years) by ELISA in 6 patients with polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes (POEMS) syndrome and 16 controls. Expression of PTX3 was also assessed (immunohistochemistry) on sural nerve biopsies from POEMS and vasculitic neuropathy patients. No correlation was found between PTX3 and VEGF levels in POEMS or controls.