Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.

. Retinitis pigmentosa (RP) is the most common inherited rod-cone dystrophy (RCD), resulting in nyctalopia, progressive visual field, and visual acuity decay in the late stages. The autosomal dominant form (ADRP) accounts for about 20% of RPs.

Impaired biogenesis of basic proteins impacts multiple hallmarks of the aging brain.

Aging and neurodegeneration entail diverse cellular and molecular hallmarks. Here, we studied the effects of aging on the transcriptome, translatome, and multiple layers of the proteome in the brain of a short-lived killifish. We reveal that aging causes widespread reduction of proteins enriched in basic amino acids that is independent of mRNA regulation, and it is not due to impaired proteasome activity.

Orofacial Migraine and Other Idiopathic Non-Dental Facial Pain Syndromes: A Clinical Survey of a Social Orofacial Patient Group.

: Orofacial pain syndromes (OFPs) are a heterogeneous group of syndromes mainly characterized by painful attacks localized in facial and oral structures. According to the International Classification of Orofacial Pain (ICOP), the last three groups (non-dental facial pain, NDFP) are cranial neuralgias, facial pain syndromes resembling primary headache syndromes, and idiopathic orofacial pain. These are often clinical challenges because the symptoms may be similar or common among different disorders.

Clinical features of thyroid cancer in paediatric age. Experience of a tertiary centre in the 2000-2020 period.

Purpose: To describe the clinical features of a paediatric cohort affected by differentiated thyroid cancer (DTC) followed in a tertiary Department of Paediatric Endocrinology.

Methods: Clinical data of 41 patients affected by DTC in the 2000-2020 period were reviewed.

Results: The main risk factor was autoimmune thyroiditis (39%).

Cranial Autonomic Symptoms and Migraine: What Relationship and What Meaning? A Review.

Cranial autonomic symptoms (CAS) have been usually associated with trigeminal autonomic cephalalgias (TAC's), however in the last few years several reports in adult and pediatric population have reported important presence of the CAS in migraine. Also several evidences experimentally show that the increased parasympathetic outflow can enhance the sensitization of nociceptive receptors involved in migraine. The presence of CAS suggests an activation of the trigeminal-autonomic reflex, probably related to an over-activation of the trigeminal afferent arm.

Experience in Spain with the first patients in home hemodialysis treated with low-flow dialysate monitors.

Home hemodialysis (HHD) with low-flow dialysate devices has gained popularity in recent years due to its simple design, portability, and ability to provide greater freedom of movement for our patients. However, there are doubts about the adequacy that this technology offers, since it uses monitors with low-flow bath and lactate. The aim of this study was to demonstrate the clinical benefits of low-flow HHD with the NxStage System One® recently introduced in Spain.

Peptides Regulating Proliferative Activity and Inflammatory Pathways in the Monocyte/Macrophage THP-1 Cell Line.

This study evaluates the effects of five different peptides, the Epitalon tetrapeptide, the Vilon dipeptide, the Thymogen dipeptide, the Thymalin peptide complex, and the Chonluten tripeptide, as regulators of inflammatory and proliferative processes in the human monocytic THP-1, which is a human leukemia monocytic cell line capable of differentiating into macrophages by PMA in vitro. These peptides (Khavinson Peptides), characterized by Prof. Khavinson from 1973 onwards, were initially isolated from animal tissues and found to be organ specific.

Headache onset after vaccination against SARS-CoV-2: a systematic literature review and meta-analysis.

Background: Vaccines against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are used to reduce the risk of developing Coronavirus Disease 2019 (COVID-19). Despite the significant benefits in terms of reduced risk of hospitalization and death, different adverse events may present after vaccination: among them, headache is one of the most common, but nowadays there is no summary presentation of its incidence and no description of its main features.

Methods: We searched PubMed and EMBASE covering the period between January 1 2020 and August 6, 2021, looking for record in English and with an abstract and using three main search terms (with specific variations): COVID-19/SARS-CoV-2; Vaccination; headache/adverse events.

ADEM post-Sars-CoV-2 infection in a pediatric patient with Fisher-Evans syndrome.

Introduction: Sars-CoV-2 is a single-strained RNA virus belonging to Coronaviridae's family. In pediatric age, the majority of patients is asymptomatic; however, several neurological manifestations associated with Sars-CoV-2 infection have been detected in a percentage of cases ranging from 17.3 to 36.

Resolution of enuresis with aripiprazole in children with psychiatric disorders: two case reports.

Background: Aripiprazole is a third-generation atypical antipsychotic drug that acts as a stabilizer of the dopaminergic and serotonergic system. As partial agonist of the dopamine (D2) and serotonin (5-HT1A) receptors, it appears to be effective in reducing mania in patients with bipolar disorder, tics in Tourette Syndrome, aggression in schizophrenia and autism spectrum disorder. Enuresis has been reported among its side effects.

Case Report: Molecular Diagnosis of Fungal Keratitis Associated With Contact Lenses Caused by .

is a filamentous fungus commonly found in the environment and is the major cause of fungal keratitis. We report a case of keratomycosis caused by in a patient using disposable soft contact lenses. A delay in diagnosis led to the initiation of an empirical antifungal treatment with the subsequent deterioration of the patient's clinical condition.

Laboratory predictors of death from coronavirus disease 2019 (COVID-19) in the area of Valcamonica, Italy.

Background Comprehensive information has been published on laboratory tests which may predict worse outcome in Asian populations with coronavirus disease 2019 (COVID-19). The aim of this study is to describe laboratory findings in a group of Italian COVID-19 patients in the area of Valcamonica, and correlate abnormalities with disease severity. Methods The final study population consisted of 144 patients diagnosed with COVID-19 (70 who died during hospital stay and 74 who survived and could be discharged) between March 1 and 30, 2020, in Valcamonica Hospital.

Insight into Function in Mouse Endoderm Patterning.

Endoderm-derived organs as liver and pancreas are potential targets for regenerative therapies, and thus, there is great interest in understanding the pathways that regulate the induction and specification of this germ layer. Currently, the knowledge of molecular mechanisms that guide the in vivo endoderm specification is restricted by the lack of early endoderm specific markers. () is a gene whose expression characterizes the early stages of murine endoderm specification (E7.

The therapeutic efficacy of Bifidobacterium animalis subsp. lactis BB-12 in infant colic: A randomised, double blind, placebo-controlled trial.

Background: The pathogenesis of infant colic is poorly defined. Gut microbiota seems to be involved, supporting the potential therapeutic role of probiotics.

Aims: To assess the rate of infants with a reduction of ≥50% of mean daily crying duration after 28 days of intervention with the probiotic Bifidobacterium animalis subsp.

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene.

The thromboxane A2 receptor (TBXA2R) gene is a member of the G-protein coupled superfamily with seven-transmembrane regions. It is involved in atherogenesis progression, ischemia, and myocardial infarction. Here we present a methodology of patient genotyping to investigate the post-transcriptional role of the C924T polymorphism (rs4523) situated at the 3' region of the TBXA2 receptor gene.

Carvacrol reduces adipogenic differentiation by modulating autophagy and ChREBP expression.

Objective: Obesity is the result of white adipose tissue accumulation where excess of food energy is stored to form triglycerides. De novo lipogenesis (DNL) is the continuous process of new fat production and is driven by the transcription factor ChREBP. During adipogenesis, white adipocytes change their morphology and the entire cell volume is occupied by one large lipid droplet.

Autophagy processes are dependent on EGF receptor signaling.

Autophagy is a not well-understood conserved mechanism activated during nutritional deprivation in order to maintain cellular homeostasis. In the present study, we investigated the correlations between autophagy, apoptosis and the MAPK pathways in melanoma cell lines. We demonstrated that during starvation the EGF receptor mediated signaling activates many proteins involved in the MAPK pathway.

Differential TBXA2 receptor transcript stability is dependent on the C924T polymorphism.

Background: In order to better characterize the molecular mechanisms involved in processing mutated transcripts, we investigated the post-transcriptional role of the C924T polymorphism (rs4523) located in the 3' region of the TBXA2R gene.

Methods And Results: Experiments of dose response with Actinomycin D on MEG-01 human cell line showed a significant decrease on cell viability that was more evident on cells treated for 24h. In addition, we showed that treatments with 5-10μM, 15μM and 20μM of actinomycin D reduced cell viability by 44%, 72% and 75%, respectively, compared to the control group.

Analytical Management of Patients Undergoing Oral Anticoagulant Therapy Could Have a Strong Impact on Clinical Outcomes: A Follow-up Study.

Introduction: Oral anticoagulant therapy, such as vitamin K antagonists (VKAs), is prominent for the prevention of cerebral ischemic stroke or systemic embolism and all-cause mortality in patients with atrial fibrillation, venous thromboembolism, and mechanical or biological valve. VKA treatment requires monitoring of the international normalized ratio (INR) in order to maintain it in a therapeutic range, avoiding side effects, the main and most significant of which is bleeding. The aim of the present study was to evaluate the event rates of several clinical composite outcomes, such as bleeding, thromboembolic events, and all-cause death.