Communicating the relevance of neurodegeneration and brain atrophy to multiple sclerosis patients: patient, provider and researcher perspectives.

Central nervous system (CNS) atrophy provides valuable additional evidence of an ongoing neurodegeneration independent of lesion accrual in persons with multiple sclerosis (PwMS). However, there are limitations for interpretation of CNS volume changes at individual patient-level. Patients are receiving information on the topic of atrophy through various sources, including media, patient support groups and conferences, and discussions with their providers.

Staff senior versus staff junior en cirugía tiroidea. Supervisada: resultados y desafíos pedagógicos.

Objetivo: En el presente trabajo nos planteamos analizar cuál es la visión del cirujano supervisado que realiza una cirugía tiroidea acerca de qué y cómo se aprende en el ámbito del quirófano y cuáles son las características de este espacio de aprendizaje. Se analizaron las posibles diferencias respecto a la morbilidad posoperatoria del paciente cuando es tratado por un supervisor o un supervisado.

MÉtodo: Estudio observacional cualitativo-cuantitativo mediante un cuestionario sin opciones prefijadas, tanto a los supervisores como a los supervisados.

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3), has a mitochondrial splice variant and is crucial for mitochondrial health. We investigated the effect of reduced LIG3 activity and resulting mitochondrial dysfunction in seven patients from three independent families, who showed the common occurrence of gut dysmotility and neurological manifestations reminiscent of mitochondrial neurogastrointestinal encephalomyopathy.

Head and neck sarcomas: treatment outcomes in a tertiary referral center in Argentina.

Purpose: To analyze the clinical findings, management, and results of oncological treatments and to identify prognostic factors in patients diagnosed with head and neck sarcoma.

Methods: We performed a retrospective analysis including 48 adult patients with primary head and neck sarcomas, treated between 2006 and 2018 in a referral center of Argentina.

Results: The median follow-up time was 44 months (range: 4-146 months).

Oral Administration of S-Adenosylmethionine (SAMe) and Lactobacillus Plantarum HEAL9 Improves the Mild-To-Moderate Symptoms of Depression: A Randomized, Double-Blind, Placebo-Controlled Study.

Objective: To assess the effects of the combination of SAMe (S-adenosylmethionine) 200 mg and Lactobacillus plantarum (L. plantarum) HEAL9 1 × 10⁹ CFU for the overall symptomatology of mild-to-moderate depression.

Methods: This 6-week randomized, double-blind, placebo-controlled study included subjects aged 18-60 years with mild-to-moderate depression (according to ICD-10 diagnostic criteria) recruited from September 17, 2018, to October 5, 2018.

The expanding pathways of autoinflammation: a lesson from the first 100 genes related to autoinflammatory manifestations.

AutoInflammatory Diseases (AIDs) are a group of innate immune system disorders characterized by sterile inflammation without evidence of pathogenic autoantibodies or auto-reactive T lymphocytes. An expanding spectrum of genes and molecular pathways are associated with AIDs. Inflammasomopathies are secondary to dysregulation of multi-protein complexes, called inflammasomes, leading to an excessive maturation and secretion of IL1β and IL18.

Anti-GAD epileptic encephalopathy in a toddler with Parry-Romberg syndrome.

Parry-Romberg syndrome (PRS) is a progressive facial hemiatrophy often associated with severe epilepsy. Although an immune-mediated vasculitic pathogenesis is widely assumed, no CNS-specific autoantibody has been described so far. A 2-year-old boy was admitted for a status epilepticus preceded by fever, restlessness, insomnia, and left facial rash.

A child with a novel ACAN missense variant mimicking a septic arthritis.

Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T > C, p.

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.

Objectives: The number of innate immune system disorders classified as systemic autoinflammatory diseases (SAID) has increased in recent years. More than 70% of patients with clinical manifestations of SAID did not receive a molecular diagnosis, thus being classed as so-called undifferentiated or undefined SAID (uSAID). The aim of the present study was to evaluate a next-generation sequencing (NGS)-based clinically oriented protocol in patients with uSAID.

Treatment for postchemoradiotherapy hypopharyngeal stenosis: Pharyngoesophageal bypass using an anterolateral thigh flap-A case report.

Radiation-induced pharyngoesophageal stenosis is a frequent and unwanted consequence of nonsurgical treatment of hypopharyngeal carcinomas. Current treatment mainly includes endoscopic dilatations, but a poor response to this modality and/or a severe stenosis may lead to a radical resection (pharyngolaryngectomy) and reconstruction with tubed flaps, which allow oral feeding but fail to preserve speech. In this report, we present a case of radiation-induced hypopharyngeal stenosis treated with a pharyngoesophageal bypass using an anterolateral thigh (ALT) flap with the intention of preserving the larynx.

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome.

Objectives: Mutations affecting the TMEM173 gene cause STING-associated vasculopathy with onset in infancy (SAVI). No standard immunosuppressive treatment approach is able to control disease progression in patients with SAVI. We studied the efficacy and safety of targeting type I IFN signaling with the Janus kinase inhibitor, ruxolitinib.

Arsenic species uptake and translocation in Elodea canadensis.

The capacity of Elodea canadensis to phytofiltrate arsenic species from water was evaluated. Plants were adapted to tap water and supplemented with 15 and 250 µg L of As. Inorganic arsenic species (As III, As V), and organic arsenic compounds: monomethylarsonate (MMA) and dimethylarsinate (DMA) were analyzed.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

A set of glutamylases and deglutamylases controls levels of tubulin polyglutamylation, a prominent post-translational modification of neuronal microtubules. Defective tubulin polyglutamylation was first linked to neurodegeneration in the () mouse, which lacks deglutamylase CCP1, displays massive cerebellar atrophy, and accumulates abnormally glutamylated tubulin in degenerating neurons. We found biallelic rare and damaging variants in the gene encoding CCP1 in 13 individuals with infantile-onset neurodegeneration and confirmed the absence of functional CCP1 along with dysregulated tubulin polyglutamylation.

T-cell defects in patients with germline mutations account for combined immunodeficiency.

ARPC1B is a key factor for the assembly and maintenance of the ARP2/3 complex that is involved in actin branching from an existing filament. Germline biallelic mutations in have been recently described in 6 patients with clinical features of combined immunodeficiency (CID), whose neutrophils and platelets but not T lymphocytes were studied. We hypothesized that ARPC1B deficiency may also lead to cytoskeleton and functional defects in T cells.

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood.

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

Primary immunodeficiencies with selective susceptibility to EBV infection are rare conditions associated with severe lymphoproliferation. We followed a patient, son of consanguineous parents, referred to our center for recurrent periodic episodes of fever associated with tonsillitis and adenitis started after an infectious mononucleosis and responsive to oral steroid. An initial diagnosis of periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome was done.

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Microbial nucleic acid recognition serves as the major stimulus to an antiviral response, implying a requirement to limit the misrepresentation of self nucleic acids as non-self and the induction of autoinflammation. By systematic screening using a panel of interferon-stimulated genes we identify two siblings and a singleton variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis, deforming arthropathy and increased anti-DNA antibodies. In both families we identify biallelic mutations in DNASE2, associated with a loss of DNase II endonuclease activity.

Type I interferon pathway activation in COPA syndrome.

Mutations of the COPA gene cause an immune dysregulatory disease characterised by polyarticular arthritis and progressive interstitial lung disease with pulmonary haemorrhages. We report the case of a young girl that presented at age 3 with polyarticular arthritis, chronic cough and high titer rheumatoid factor. Radiologic imaging showed interstitial lung disease with tree-in-a-bud nodules and air-filled cysts.

Reconstruction of Hind and Mid-Foot Defects after Melanoma Resection Using the Reverse Sural Flap: A Case Series.

 Melanoma resection creates important soft tissues defects, which are difficult to manage when located on the weight-bearing heel and mid foot. There is little evidence on the use of the reverse-flow sural flap for this type of reconstruction.  This study reports our case series on the reconstructive management of the hind and mid-foot defects after melanoma resection using the reverse sural artery flap.

ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

Objectives: To analyse the prevalence of mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation or polyarteritis nodosa (PAN). Forty-eight patients from 43 families were included in the study.

Methods: Direct sequencing of was performed by Sanger analysis.