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PREMISE: Globally, barriers triggered by climatic changes have caused habitat fragmentation and population allopatric divergence. Across North America, oscillations during the Quaternary have played important roles in the distribution of wildlife. Notably, diverse plant species from the Baja California Peninsula in western North America, isolated during the Pleistocene glacial-interglacial cycles, exhibit strong genetic structure and highly concordant divergent lineages across their ranges. A representative plant genus of the peninsula is Yucca, with Y. valida having the widest range. Although a dominant species, it has an extensive distribution discontinuity between 26° N and 27° N, suggesting restricted gene flow. Moreover, historical distribution models indicate the absence of an area with suitable conditions for the species during the Last Interglacial, making it an interesting model for studying genetic divergence. METHODS: We assembled 4411 SNPs from 147 plants of Y. valida throughout its range to examine its phylogeography to identify the number of genetic lineages, quantify their genetic differentiation, reconstruct their demographic history and estimate the age of the species. RESULTS: Three allopatric lineages were identified based on the SNPs. Our analyses support that genetic drift is the driver of genetic differentiation among these lineages. We estimated an age of less than 1 million years for the common ancestor of Y. valida and its sister species. CONCLUSIONS: Habitat fragmentation caused by climatic changes, low dispersal, and an extensive geographical range gap acted as cumulative mechanisms leading to allopatric divergence in Y. valida.
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OBJECTIVES: We aimed to explore the prevalence of peroneal neuropathy in children during coronavirus disease-19 (COVID-19) pandemic. BACKGROUND: Since the COVID-19 outbreak, many children worldwide have experienced a dramatic lifestyle changes, including conducting most daily activities indoors. Peroneal nerve palsy is one of the most common entrapment neuropathies and circumstances as prolonged immobilization or leg crossing predisposes an individual to peroneal neuropathy. METHODS: This is a case-control retrospective study that included patients referred to our neurophysiology clinic with foot drop. We compared the prevalence of spontaneous peroneal neuropathy 1 year before (April 2019/March 2020) and 1 year during the COVID-19 pandemic (April 2020/March 2021); and we also continued collecting data prospectively between April and September 2021 analysis the whole pandemic period. RESULTS: Totally, 399 patient clinical notes and NCS/EMG reports were reviewed, 220 were evaluated 1 year before and 179 1 year during COVID-19 pandemic. During the COVID-19 pandemic, there was a higher prevalence of peroneal neuropathy (odds ratio 4.74, 95%CI 1.30-17.25, p = 0.0183). In the COVID group (n = 11), mean age was 14 years and 63.4% were males. Mean age was 15 years and 66.7% were males in the Control group (n = 3). There was a significant difference in the time from symptoms onset to the neurophysiology assessment, with a mean time of 14 days in the Control group and 87.5 days in the COVID group. CONCLUSIONS: This study provides evidence that during the COVID-19 pandemic period, there was a higher prevalence of peroneal neuropathy among children. Strategies to prevent peroneal neuropathy should be recommened to this age group.
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COVID-19 , Neuropatias Fibulares , Masculino , Humanos , Criança , Adolescente , Feminino , Neuropatias Fibulares/epidemiologia , Neuropatias Fibulares/diagnóstico , Pandemias , Estudos Retrospectivos , Prevalência , COVID-19/epidemiologiaRESUMO
BACKGROUND: Cerebral venous thrombosis (CVT) is a rare medical condition that primarily affects young adults. The clinical spectrum is broad and its recognition remains a challenge for clinicians. Limited information is available on CVT in Argentina. Our goal was to report the results of the first National registry on CVT in Argentina and to compare clinical presentation, predisposing factors and outcomes with other international registries. MATERIAL AND METHOD: The Argentinian National Registry on CVT (ANR-CVT) is a multicenter retrospective cohort study comprising patients aged 18 and older with a diagnosis of CVT from January 2015 to January 2019. We evaluated demographics, predisposing factors, clinical presentation, and radiological characteristics (e.g. number of involved sinuses, venous infarction or hemorrhage on CT and MRI scans at admission), therapeutic interventions and functional outcomes at discharge and at 90 days. Our results were compared to a literature review of CVT registries. RESULTS: Overall, one hundred and sixty-two patients met the inclusion criteria. The mean age was 42 (±17) years; 72% were women. Seventy percent of patients were younger than 50 years. The most common presenting symptom was headache (82%). The transverse sinus was the most common site of thrombosis (70%) followed by the sigmoid sinus (46%). The main predisposing factor in women was contraceptive use (44%), 3% of the events occurred during pregnancy and 9% during the puerperium. Participants 50 years and older had a higher frequency on malignancy related (7.5% vs. 30%, p = 0.0001) and infections (2% vs. 11%, p = 0.001). The modified Rankin Scale (mRS) ≤2 at discharge was 81% and the rate of mortality at discharge was 4%. At 90 days, the mRS≤2 was 93%. When the ANR-CVT was compared with larger registries from Europe and Asia, the prevalence of cancer among patients with CVT was two to five-fold higher (15% vs. 7% and 3%, respectively; p = 0.002 and p < 0.001). Anticoagulation rates at discharge were also higher (94%) compared to registries from Asia (ASCVT - 68%) or Turkey (VENOST - 67%). CONCLUSION: Participants in the first ANR-CVT had a low mortality and disability at 90 days. Clinical and radiological characteristics were similar to CVT from other international registries with a higher prevalence of cancer. There was a high variability in treatment adherence to guidelines as reflected by anticoagulation rates (range 54.5%-100%) at discharge.
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Trombose Intracraniana/tratamento farmacológico , Trombose Venosa/tratamento farmacológico , Adolescente , Adulto , Anticoagulantes/uso terapêutico , Argentina/epidemiologia , Angiografia Cerebral , Comorbidade , Avaliação da Deficiência , Feminino , Fidelidade a Diretrizes , Disparidades em Assistência à Saúde , Humanos , Trombose Intracraniana/diagnóstico por imagem , Trombose Intracraniana/mortalidade , Masculino , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto , Padrões de Prática Médica , Prevalência , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Trombose Venosa/diagnóstico por imagem , Trombose Venosa/mortalidade , Adulto JovemRESUMO
Phosphoenolpyruvate carboxykinase (PCK) plays a critical role in cytosolic gluconeogenesis, and defects in PCK1 cause a fasting-aggravated metabolic disease with hypoglycemia and lactic acidosis. However, there are two genes encoding PCK, and the role of the mitochondrial resident PCK (encoded by PCK2) is unclear, since gluconeogenesis is cytosolic. We identified three patients in two families with biallelic variants in PCK2. One has compound heterozygous variants (p.Ser23Ter/p.Pro170Leu), and the other two (siblings) have homozygous p.Arg193Ter variation. All three patients have weakness and abnormal gait, an absence of PCK2 protein, and profound reduction in PCK2 activity in fibroblasts, but no obvious metabolic phenotype. Nerve conduction studies showed reduced conduction velocities with temporal dispersion and conduction block compatible with a demyelinating peripheral neuropathy. To validate the association between PCK2 variants and clinical disease, we generated a mouse knockout model of PCK2 deficiency. The animals present abnormal nerve conduction studies and peripheral nerve pathology, corroborating the human phenotype. In total, we conclude that biallelic variants in PCK2 cause a neurogenetic disorder featuring abnormal gait and peripheral neuropathy.
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Doenças do Sistema Nervoso Periférico , Fosfoenolpiruvato Carboxiquinase (ATP) , Camundongos , Animais , Humanos , Fosfoenolpiruvato , Fosfoenolpiruvato Carboxiquinase (ATP)/genética , Fosfoenolpiruvato Carboxiquinase (GTP)/genética , Gluconeogênese/genética , Fosfoenolpiruvato Carboxilase/metabolismo , Doenças do Sistema Nervoso Periférico/genéticaRESUMO
Se desarrolló una encuesta autoadministrada a 154 profesores universitarios con el objeto de evaluar la composición corporal, y ciertos estilos de vida. Se determinaron los niveles de actividad física, y se analizaron variables biológicas y conductuales de los docentes, asociadas a factores de riesgo de enfermedades crónicas. Estuvo conformada por 56 preguntas divididas en distintos aspectos: datos biográficos, actitudes hacia la salud y ciertos estilos de vida. En una submuestra voluntaria se recogieron datos sobre distintas variables antropométricas, composición corporal por impedancia bioeléctrica y análisis bioquímicos sobre perfil lipídico y hemoglobina. Los resultados demuestran que la mediana de edad de hombres y mujeres es de 52 y 49 años respectivamente. El 50 por ciento de los hombres y el 25 por ciento de las mujeres presentaron valores de IMC superiores a los límites normales. Una mayor proporción presentaron valores excesivos en el porcentaje de grasa corporal. La mayoría presentan valores superiores a los límites normales para el colesterol siendo esta situación mas preocupante en las mujeres. Un importante porcentaje de estas últimas no tienen conciencia de la necesidad de controles ginecológicos preventivos. Si bien alrededor del 60 por ciento realiza algún tipo de actividad física, esta se reduce a caminatas entre 1 a 2 veces por semana. La mayoría de los que fuman no realizan actividad física lo que agrava su situación sedentaria
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Humanos , Composição Corporal , Docentes , Dieta , Atitude Frente a Saúde , Pesos e Medidas Corporais , Estilo de VidaRESUMO
El objetivo de la investigación es efectuar una evaluación a través de radiografías cefalométricas y panorámicas de las Vías Aéreas Superiores (VAS) en niños de 3 a 13 años que visitaron la clínica de la Facultad Odontología de la Universidad de ElSalvador en los ciclos I 2003 al I 2005. Al presentarse síndrome de respiración bucal, hay cambios en las VAS como: disminución en la distancia de faringe superior e inferior (McNamara), obstrucción en la ventilación de la vertical pterigoidea (Ricketts), posición anormal del tabique nasal, asimetría de senos maxilares y obstrucción de fosas nasales (Simoes). El estudio se realizó en 231 Radiografías cefalométricas y panorámicas seleccionadas previamente, los criterios de selección fueron, que la radiografía no esté manchada, rallada, que las estructuras a investigar se observen claramente. Se utilizó la observación, realizando las respectivas mediciones, previamente se determinó que los investigadores trabajaran de la misma manera. La investigación es Descriptiva Observacional Retrospectiva. Los materiales utilizados fueron: acetatos, plumones indelebles, negatoscopio, regla milimetrada, entre otros. Los resultados coinciden con los autores, concluyendo que estas medidas son extrapolables a los salvadoreños. Se recomienda incluir un análisis radiográfico de VAS al sospechar síndrome de respiración bucal.
The objective of the research is to carry out an evaluation through cephalometric and panoramic radiographs of the Superior Airways (VAS) in children from 3 to 13 years old who visited the clinic of the Faculty of Dentistry of the University of El Salvador in cycles I 2003 to I 2005. When mouth breathing syndrome occurs, there are changes in the VAS such as: decrease in the distance of the upper and lower pharynx (McNamara), obstruction in the ventilation of the vertical pterygoid (Ricketts), abnormal position of the nasal septum, asymmetry of maxillary sinuses and nasal passage obstruction (Simoes). The study was carried out on 231 previously selected cephalometric and panoramic X-rays, the selection criteria were that the X-ray is not stained, scratched, that the structures to be investigated are clearly observed. Observation was used, making the respective measurements, previously it was determined that the researchers worked in the same way. The research is Descriptive Observational Retrospective. The materials used were: acetates, indelible markers, X-ray viewer, millimeter ruler, among others. The results coincide with the authors, concluding that these measures can be extrapolated to Salvadorans. It is recommended to include a radiographic analysis of VAS when suspecting mouth breathing syndrome.