The impact of developmental and epileptic encephalopathies on families: a qualitative study.

Developmental and epileptic encephalopathies (DEEs) cause disability and dependence affecting both children and the family. The aim of the study was to describe the perspective of parents of children with DEEs regarding the impact of the disease on the family. We carried out a qualitative study based on the interpretivist paradigm. Twenty-one participants were selected using purposive sampling. Parents of children with DEEs of SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included. In-depth interviews and researcher notes were used for data collection. A thematic analysis was performed on the data. Three themes were identified in the results: (a) Assuming conflicts and changes within the couple, causing them to distance themselves, reducing their time and intimacy and leading them to reconsider having more children; (b) impact of the disorder on siblings and grandparents, where siblings perceived DEE as a burden in their lives, felt neglected, and needed to grow and mature alone; conversely, the grandparents suffered for their grandchildren and the parents, in addition to perceiving that their health worsened, and (c) reconciling the care of the child with family life and work; this led the parents to share tasks, abandon or reduce working hours and ask for help.Conclusions: Caring for a child with DEE can result in neglect of social, psychological, emotional, recreational, educational, or occupational needs and obligations that ultimately impact all family members. What is Known: • Children with DEE may develop seizures and experience developmental and cognitive problems. • Caring for a child with DEE has a social and psychological impact on the entire family.

Living and Coping with Olfactory and Taste Disorders: A Qualitative Study of People with Long-COVID-19.

Taste and smell disorders are common symptoms of SARS-CoV-2 acute infection. In post-COVID-19 condition, symptoms can persist leading to disruption in patients' lives, to changes in their coping skills, and to the need to develop strategies for everyday life. This study aimed to describe the perspective of a group of patients with Long-COVID-19, a condition where loss of taste and/or smell was the most predominant symptom. A qualitative descriptive study was conducted. Participants who had suffered SARS-CoV-2 infection and had Long-COVID-19 loss of taste and/or smell were recruited. Purposive sampling was applied, and participants were recruited until data redundancy was reached. In-depth interviews were used for data collection and thematic analysis was applied. Twelve COVID-19 survivors (75% women) were recruited. The mean age of the participants was 55 years, and the mean duration of post-COVID-19 symptoms was 25 months. Three themes were identified: (a) Living with taste and smell disorders, describing the disorders they experience on a daily basis, how their life has changed and the accompanying emotions, (b) Changes and challenges resulting from the loss of taste and smell, changes in habits, self-care and risk in certain jobs or daily activities, (c) Coping with taste and smell disorders, describing the daily strategies used and the health care received. In conclusion, Long-COVID-19 taste and/or smell disorders limit daily life and involve changes in habits, meal preparation, and the ability to detect potentially dangerous situations.

Carpal tunnel syndrome in the workplace. Triggers, coping strategies, and economic impact: A qualitative study from the perspective of women manual workers.

BACKGROUND: Carpal tunnel syndrome (CTS) may lead to significant work limitations, especially in female manual workers. There is scarce evidence on the perspective of female manual workers with CTS. PURPOSE: To explore the perspective of female workers who suffer from CTS regarding triggers, coping strategies, and economic impact. STUDY DESIGN: A qualitative phenomenological study was conducted involving 18 manual workers with CTS diagnosed by the neurology service of a public hospital. METHODS: Purposive sampling was applied, and data were collected using in-depth interviews and researchers' notes. An inductive thematic analysis was applied to identify themes reflecting the participants' experience. Guba and Lincoln criteria were applied to establish the trustworthiness of the data. RESULTS: The mean age of participants was 40.06 years (SD 9.86). Four themes were identified: (a) coping with work limitations; (b) work activities that aggravate symptoms; (c) relationships at work; and (d) the economic burden of CTS. The effect of work on CTS, daily constraints, work situations that trigger the symptoms, and the strategies used by participants to adapt to their work are described. In addition, they recounted how relationships with managers and coworkers are modified and how CTS affects family finances. CONCLUSIONS: The findings describe aggravating factors among working women, coping strategies used, and the social and occupational impact of CTS.

Amyloid and anatomical correlates of executive functioning in middle-aged offspring of patients with late-onset Alzheimer's disease.

A traditional hallmark of cognitive impairment associated with late-onset Alzheimer´s disease (LOAD) is episodic memory impairment. However, early alterations have been identified in brain regions associated with executive function in asymptomatic, middle-age offspring of patients with LOAD (O-LOAD) compared to those with no family history. We hypothesized that executive function among O-LOAD would correlate with structural and amyloid brain imaging differently from those without a family history of LOAD (control subjects, CS). Executive function, cortical thickness, and in-vivo Aß deposits were quantified in 30 O-LOAD and 25 CS. Associations were observed among O-LOAD only. Cortical thickness in the left lateral orbitofrontal cortex was positively associated with Design Fluency. The Stroop Color and Word Test, correlated positively with right rostral mid-frontal cortex thickness. Trails Making Test-B was inversely related to left medial orbitofrontal thickness. Tower of London total time was positively associated with ß-amyloid deposition in the right precuneus. These results support previous evidence that early executive dysfunction might reflect subtle, early changes in persons at risk of LOAD and suggests that executive function alterations deserve further exploration in the LOAD literature.

Maternal Vaccination in Argentina: Tetanus, Diphtheria, and Acellular Pertussis Vaccine Effectiveness During Pregnancy in Preventing Pertussis in Infants <2 Months of Age.

BACKGROUND: In 2011, Argentina experienced its highest pertussis incidence and mortality rates of the last decade; 60% of deaths were among infants aged <2 months. In response, a dose of tetanus toxoid, reduced diphtheria toxoid, and acellular pertussis (Tdap) vaccine was recommended for all pregnant women at ≥20 weeks of gestation. Although recent studies suggest that maternal Tdap vaccination is effective at preventing infant disease, no data have come from low- or middle-income countries, nor from ones using whole-cell pertussis vaccines for primary immunization. METHODS: We conducted a matched case-control evaluation to assess the effectiveness of maternal Tdap vaccination in preventing pertussis among infants aged <2 months in Argentina. Pertussis case patients identified from September 2012 to March 2016 at 6 hospital sites and confirmed by polymerase chain reaction testing were included. Five randomly selected controls were matched to each case patient by hospital site and mother's health district. We used multivariable conditional logistic regression to calculate odds ratios (ORs). Vaccine effectiveness (VE) was estimated as (1 - OR) × 100%. RESULTS: Seventy-one case patients and 300 controls were included in the analysis. Forty-nine percent of case patients and 78% of controls had mothers who were vaccinated during pregnancy. Overall Tdap VE was estimated at 80.7% (95% confidence interval, 52.1%-92.2%). We found similar VE whether Tdap was administered during the second or third trimester. CONCLUSIONS: Tdap vaccination during pregnancy is effective in preventing pertussis in infants aged <2 months in Argentina, with similar effectiveness whether administered during the second or third trimester of pregnancy.

Influence of the Topographic Vascular Distribution of the Face on Dermal Filler Accidents.

OBJECTIVE: Dermal fillers are an important tool in the field of aesthetic dermatology. Fillers are relatively noninvasive and easy to use but are not free of secondary complications. The main complications are vascular and are due to either the compression of an artery or the direct introduction of the product into the arterial lumen. The aim of this study is to provide an overview of the vascular territories of the face to avoid many possible complications when using facial fillings. Anatomical localization of the main arterial supply to the face has been described to assess the risk of vascular injury. METHODS: The authors dissected 17 hemifaces of embalmed adult cadavers that had previously been injected, through the common carotid artery, with latex containing a red dye. RESULTS: A topographic distribution was generated by facial regions following a clinical approach from where the facial fillings were placed and related to the pathways of the arteries. Following these criteria, we established 8 topographic regions (I-VIII) that indicate the main vascular problems of each of these regions. Detailed anatomical localizations of the main arteries in these topographic regions of the face and their relationships are described. CONCLUSIONS: The highest index of vascular lesions and especially visual alterations occurred for fillings of the upper third of the face. To prevent and avoid this type of lesion, it is advisable to avoid, as much as possible, treatments with filling materials in the upper third of the face, mainly including the glabellar and nasal region (III) and supraorbital region (VIII).

Cortical thickness, brain metabolic activity, and in vivo amyloid deposition in asymptomatic, middle-aged offspring of patients with late-onset Alzheimer's disease.

The natural history of preclinical late-onset Alzheimer's disease (LOAD) remains obscure and has received less attention than that of early-onset AD (EOAD), in spite of accounting for more than 99% of cases of AD. With the purpose of detecting early structural and functional traits associated with the disorder, we sought to characterize cortical thickness and subcortical grey matter volume, cerebral metabolism, and amyloid deposition in persons at risk for LOAD in comparison with a similar group without family history of AD. We obtained 3T T1 images for gray matter volume, FDG-PET to evaluate regional cerebral metabolism, and PET-PiB to detect fibrillar amyloid deposition in 30 middle-aged, asymptomatic, cognitively normal individuals with one parent diagnosed with LOAD (O-LOAD), and 25 comparable controls (CS) without family history of neurodegenerative disorders (CS). We observed isocortical thinning in AD-relevant areas including posterior cingulate, precuneus, and areas of the prefrontal and temporoparietal cortex in O-LOAD. Unexpectedly, this group displayed increased cerebral metabolism, in some cases overlapping with the areas of cortical thinning, and no differences in bilateral hippocampal volume and hippocampal metabolism. Given the importance of age in this sample of individuals potentially developing early AD-related changes, we controlled results for age and observed that most differences in cortical thickness and metabolism became nonsignificant; however, greater deposition of ß-amyloid was observed in the right hemisphere including temporoparietal cortex, postcentral gyrus, fusiform inferior and middle temporal and lingual gyri. If replicated, the present observations of morphological, metabolic, and amyloid changes in cognitively normal persons with family history of LOAD may bear important implications for the definition of very early phenotypes of this disorder.

[Detection of human bocavirus in children from Tucuman and Santa Fe, Argentina]. / Detección de bocavirus humano en la población infantil de Tucumán y Santa Fe, Argentina.

BACKGROUND: A large proportion of acute respiratory tract infections (ARTI) remain without etiologic diagnosis, reason why new pathogens are investigated continuously. Human bocavirus (HBoV) was discovered in 2005, as a new member of Parvoviridae family and proposed to cause ARTI. AIM: To know the prevalence of HBoV among pediatric populations hospitalized for ARTI in two provinces of Argentina: Santa Fe and Tucuman; and to describe epidemiological and clinical aspects associated to its detection. MATERIALS AND METHODS: We studied nasopharyn-geal aspirates of patients younger than 5 years old that were hospitalized during 2013 due ARTI. HBoV DNA was assayed using PCR described by Allander et al. Traditional virnses were studied by immunofluorescence. Personal, clinical and epidemiological data were collected in a standardized form. RESULTS: The HBoV was detected in 7% of the samples and was prevalent in spring and summer and in children younger of 2 years old. Other respiratory viruses were detected in 22% of HBoV positive samples. DISCUSSION: We detected HBoV in these two provinces of Argentina. Further studies should be performed to determine if it's a recent infection or prolonged viral shedding.

Detección de bocavirus humano en la población infantil de Tucumán y Santa Fe, Argentina / Detection of human bocavirus in children from Tucuman and Santa Fe, Argentina

Background: A large proportion of acute respiratory tract infections (ARTI) remain without etiologic diagnosis, reason why new pathogens are investigated continuously. Human bocavirus (HBoV) was discovered in 2005, as a new member of Parvoviridae family and proposed to cause ARTI. Aim: To know the prevalence of HBoV among pediatric populations hospitalized for ARTI in two provinces of Argentina: Santa Fe and Tucuman; and to describe epidemiological and clinical aspects associated to its detection. Materials and Methods: We studied nasopharyn-geal aspirates of patients younger than 5 years old that were hospitalized during 2013 due ARTI. HBoV DNA was assayed using PCR described by Allander et al. Traditional virnses were studied by immunofluorescence. Personal, clinical and epidemiological data were collected in a standardized form. Results: The HBoV was detected in 7% of the samples and was prevalent in spring and summer and in children younger of 2 years old. Other respiratory viruses were detected in 22% of HBoV positive samples. Discussion: We detected HBoV in these two provinces of Argentina. Further studies should be performed to determine if it’s a recent infection or prolonged viral shedding.

Introducción: Un alto porcentaje de las infecciones respiratorias agudas (IRA) permanece sin diagnostico etiológico, por lo cual se investigan nuevos patógenos continuamente. Bocavirus humano (HBoV) fue descubierto en 2005, como un nuevo miembro de la familia Parvoviridae y propuesto como causante de IRA. Objetivos: Investigar la prevalencia de HBoV en niños bajo 5 años de edad, hospitalizados por IRA en dos provincias de Argentina: Santa Fe y Tucumán y describir aspectos epidemiológicos y clínicos asociados a su detección. Materiales y Métodos: Se estudiaron retrospectivamente los aspirados nasofaríngeos (ANF) de pacientes bajo 5 años de edad, con diagnóstico de IRA, hospitalizados durante el año 2013. La presencia de HBoV se detectó mediante la RPC de punto final descripta por Allander y cols. Los virus tradicionales se estudiaron mediante inmunofluorescencia. Datos personales, clínicos y epidemiológicos se recolectaron en una planilla estandarizada. Resultados: HBoV fue detectado en 7% de las muestras con prevalencia en primavera y verano; y principalmente en pacientes bajo 2 años de edad. Se registró co-detecciones en 22% de los casos. Discusión: Hemos detectado HBoV en estas dos provincias de Argentina; estudios posteriores deberán efectuarse para determinar si se trata de una infección reciente o una excreción prolongada del virus.