Multidisciplinary Assessment and Individualized Nutritional Management of Dysphagia in Older Outpatients.

Introduction: The evidence on the efficacy of nutrition therapy to prevent complications of dysphagia is based on observational studies that used different tools for nutritional and dysphagia assessment, and different scales for the definition of diet textures, rendering their results incomparable and the knowledge on dysphagia management inconclusive.

Methods: This retrospective observational study was performed in 267 older outpatients who were assessed for dysphagia and nutritional status by a multidisciplinary team at the Clinical Nutrition Unit of IRCCS INRCA geriatric research hospital (Ancona, Italy) from 2018 to 2021. GUSS test and ASHA-NOMS measurement systems were used for dysphagia assessment, GLIM criteria for the assessment of nutritional status, and the IDDSI framework to describe the texture-modified diets.

Transcriptome profiling of kisspeptin neurons from the mouse arcuate nucleus reveals new mechanisms in estrogenic control of fertility.

Kisspeptin neurons in the mediobasal hypothalamus (MBH) are critical targets of ovarian estrogen feedback regulating mammalian fertility. To reveal molecular mechanisms underlying this signaling, we thoroughly characterized the estrogen-regulated transcriptome of kisspeptin cells from ovariectomized transgenic mice substituted with 17β-estradiol or vehicle. MBH kisspeptin neurons were harvested using laser-capture microdissection, pooled, and subjected to RNA sequencing.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Purpose: This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants.

Methods: Individuals with protein altering variants in SOX11 were identified through exome and genome sequencing and international data sharing. Deep clinical phenotyping was undertaken by referring clinicians.

SDNN24 Estimation from Semi-Continuous HR Measures.

The standard deviation of the interval between QRS complexes recorded over 24 h (SDNN24) is an important metric of cardiovascular health. Wrist-worn fitness wearable devices record heart beats 24/7 having a complete overview of users' heart status. Due to motion artefacts affecting QRS complexes recording, and the different nature of the heart rate sensor used on wearable devices compared to ECG, traditionally used to compute SDNN24, the estimation of this important Heart Rate Variability (HRV) metric has never been performed from wearable data.

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.

Purpose: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder resulting in absent puberty and infertility. The genetic architecture is complex with multiple loci involved, variable expressivity, and incomplete penetrance. The majority of cases are sporadic, consistent with a disease affecting fertility.

A computationally efficient algorithm to obtain an accurate and interpretable model of the effect of circadian rhythm on resting heart rate.

Objective: Wrist-worn wearable devices equipped with heart rate (HR) sensors have become increasingly popular. The ability to correctly interpret the collected data is fundamental to analyse user's well-being and perform early detection of abnormal physiological data. Circadian rhythm is a strong factor of variability in HR, yet few models attempt to accurately model its effect on HR.

Profiling the propagation of error from PPG to HRV features in a wearable physiological-monitoring device.

Wearable physiological monitors are becoming increasingly commonplace in the consumer domain, but in literature there exists no substantive studies of their performance when measuring the physiology of ambulatory patients. In this Letter, the authors investigate the reliability of the heart-rate (HR) sensor in an exemplar 'wearable' wrist-worn monitoring system (the Microsoft ); their experiments quantify the propagation of error from (i) the photoplethysmogram (PPG) acquired by pulse oximetry, to (ii) estimation of HR, and (iii) subsequent calculation of HR variability (HRV) features. Their experiments confirm that motion artefacts account for the majority of this error, and show that the unreliable portions of HR data can be removed, using the accelerometer sensor from the wearable device.

[History of the Department of Neurology at the University of Buenos Aires (1887-2007)].

In 1887, only five years after Jean-Martin Charcot was awarded the Head of Neurology at "La Salpetrière" in Paris, José María Ramos Mejía became the first professor of Neurology in South America, at the School of Medicine of the University of Buenos Aires. Ramos Mejía convoked three assistants, the neuropathologist Christofredo Jakob, the clinician José A. Esteves and José Ingenieros.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunit axonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm through a DNAAF2-DNAAF4-HSP90 complex akin to the HSP90 co-chaperone R2TP complex.

Inverse association between yerba mate consumption and idiopathic Parkinson's disease. A case-control study.

Yerba mate tea is a very common beverage in some countries of South America. We conducted a case-control study on an individual basis using hospital records to investigate the association between Parkinson's disease (PD) and yerba mate intake. A case was defined as an age of ≥ 40 years with ≥ 1 year of PD.

Cystic fibrosis carrier screening effects on birth prevalence and newborn screening.

Purpose: We evaluated the effects of cystic fibrosis (CF) carrier screening on birth prevalence trends and newborn screening (NBS) efficiency by comparing two Italian regions; carrier screening was performed in one region (eastern region (ER)) and not in the other (western region (WR)).

Methods: Annual births of infants with CF, NBS false-positive results, NBS uncertain diagnoses (borderline sweat chloride (BSC)), carrier tests performed, and carriers detected were monitored during the 1993-2013 period.

Measurements And Main Results: A total of 259 newborns with CF were detected.

A population-based study of cognitive impairment in socially vulnerable adults in Argentina. The Matanza Riachuelo study preliminary results.

Unlabelled: Population aging has taken place intensively worldwide, even in developing countries. These countries have population groups with low resources and basic unmet needs that are frequently omitted from epidemiological studies.

Objective: The purpose of this study was to determine the prevalence of cognitive impairment (CI) and dementia in an economic and socially vulnerable population from Argentina.

Diagnostic accuracy of the Phototest for cognitive impairment and dementia in Argentina.

Phototest is a simple, easy and very brief test with theoretical advantages over available dementia screening tests in Spain. The objective of this study was to estimate the diagnostic accuracy of the Phototest for cognitive impairment and dementia and to compare it with that of the MMSE and the Clock Drawing Test (CDT) in an Argentine population. A phase II cross-sectional study of diagnostic tests evaluation was performed in a sample of 30 controls, 61 with amnestic mild cognitive impairment (a-MCI), and 56 with mild Alzheimer type dementia (DAT).

MM1+2C sporadic Creutzfeldt-Jakob disease presenting as rapidly progressive nonfluent aphasia.

We report a 77-year-old man, presenting with progressive aphasia as an initial symptom, who developed severe dementia over the course of 20 months. Frontal cortex PrPSc western blot was type 2 and codon 129 was MM; brain neuropathology showed cortical vacuoles with perivacuolar PrP immunostaining characteristic of MM2C. Cerebellum showed focal coarse, patchy staining in different sections of the molecular layer, diffuse fine punctuate and coarse PrP immunopositive deposits in the granule cell layer, and focal synaptic immunostaining in the molecular layer, suggestive of MM1+2C by histotyping.

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a ciliopathy characterized by airway disease, infertility, and laterality defects, often caused by dual loss of the inner dynein arms (IDAs) and outer dynein arms (ODAs), which power cilia and flagella beating. Using whole-exome and candidate-gene Sanger resequencing in PCD-affected families afflicted with combined IDA and ODA defects, we found that 6/38 (16%) carried biallelic mutations in the conserved zinc-finger gene BLU (ZMYND10). ZMYND10 mutations conferred dynein-arm loss seen at the ultrastructural and immunofluorescence level and complete cilia immotility, except in hypomorphic p.

Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation.

Most of the mutations in the presenilin-1 gene (PS-1) are associated with familial Alzheimer's disease (AD). However, certain examples can be associated with frontotemporal dementia (FTD). We performed a clinical evaluation of individuals belonging to a family with the FTD phenotype, and additional molecular studies and neuropathological assessment of the proband.

Towards establishing MS prevalence in Latin America and the Caribbean.

A very high prevalence of multiple sclerosis (MS) has been reported in some Western European and North American countries. The few surveys of MS epidemiology in South America reveal lower prevalence rates, implying that susceptibility varies between distinct ethnic groups, thus forming an important determinant of the geographic distribution of the disease. The objective of this study is to review MS prevalence estimates in different Latin American and Caribbean countries.

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.

Congenital nystagmus (NYS) is characterized by bilateral, spontaneous, and involuntary movements of the eyeballs that most commonly presents between 2 and 6 months of life. To date, 44 different FRMD7 gene mutations have been found to be etiological factors for the NYS1 locus at Xq26-q27. The aim of this study was to find the FRMD7 gene mutations in a large eleven-generation Indian pedigree with 71 members who are affected by NYS.

Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome.

Current research in schizophrenia suggests that negative symptoms cannot be considered a unitary construct and should be divided in two dimensions: lack of motivation and impoverishment of expression. In addition, negative symptoms are particularly related to decreased daily-life functioning. In the present study, we aimed to replicate these results in a sample of participants with 22q11.

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD.

Primary ciliary dyskinesia (PCD) is an inherited disorder causing significant upper and lower respiratory tract morbidity and impaired fertility. Half of PCD patients show abnormal situs. Human disease loci have been identified but a mouse model without additional deleterious defects is elusive.

Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.

Purpose: Myopia is a common vision problem affecting almost one third of the world's population. It can occur as an isolated genetic condition or be associated with other anomalies and/or syndromes. Seventeen myopia loci have been identified on various chromosomes; however, no specific gene mutations have yet been identified.

Clinical and economic characteristics associated with direct costs of Alzheimer's, frontotemporal and vascular dementia in Argentina.

Background: The economic cost of dementia is high and can be predicted by cognitive and neuropsychiatric profiles. The differential costs of the various subtypes of dementia are unknown in Argentina, and this study therefore aimed to compare these costs.

Methods: Patients with a diagnosis of dementia of Alzheimer-type (DAT), frontotemporal dementia (FTD) and vascular dementia (VaD), and their primary caregivers, were evaluated between 2002 and 2008.