Plant trait and vegetation data along a 1314 m elevation gradient with fire history in Puna grasslands, Perú.

Alpine grassland vegetation supports globally important biodiversity and ecosystems that are increasingly threatened by climate warming and other environmental changes. Trait-based approaches can support understanding of vegetation responses to global change drivers and consequences for ecosystem functioning. In six sites along a 1314 m elevational gradient in Puna grasslands in the Peruvian Andes, we collected datasets on vascular plant composition, plant functional traits, biomass, ecosystem fluxes, and climate data over three years. The data were collected in the wet and dry season and from plots with different fire histories. We selected traits associated with plant resource use, growth, and life history strategies (leaf area, leaf dry/wet mass, leaf thickness, specific leaf area, leaf dry matter content, leaf C, N, P content, C and N isotopes). The trait dataset contains 3,665 plant records from 145 taxa, 54,036 trait measurements (increasing the trait data coverage of the regional flora by 420%) covering 14 traits and 121 plant taxa (ca. 40% of which have no previous publicly available trait data) across 33 families.

Labyrinthine Bifurcation of the Facial Nerve.

The labyrinthine bifurcation of the facial nerve is extremely rare. Diverse congenital temporal bone anomalies usually coexist, and a detailed preoperative evaluation is needed to detect them. We report a case of labyrinthine bifurcation of the facial nerve detected on the preoperative evaluation of a patient with congenital aural atresia.

Posterior Lingual Abscess; Report of Two Cases.

The lingual abscess is rare due to several protective mechanisms against infection in this location. Concretely, the abscess in the base of the tongue (posterior lingual abscess) is even more exceptional. Its prompt detection is crucial to avoid potentially fatal airway complications. To familiarize physicians with this condition, we report 2 cases of posterior lingual abscess. Both were referred to our emergency department due to minor oropharyngeal complaints. Finally, both were diagnosed and required surgical drainage. The clinical evolution was successful: both were discharged in less than 72 hours and follow-up one week later confirmed clinical recovery.

A Critical Appraisal of the Quality of Vertigo Practice Guidelines Using the AGREE II Tool: A EuroAIM Initiative.

OBJECTIVES: The aim of this review is to assess the methodological quality of guidelines for the management of vertigo and dizziness and to compare their recommendations, with specific focus on neuroimaging. DATABASES REVIEWED: MEDLINE, EMBASE, National Guideline Clearinghouse, and National Institute for Health and Clinical Excellence database. METHODS: In March 2022, a systematic search was performed to find practice guidelines of management of vertigo and dizziness. The evaluation of guidelines quality was performed independently by four authors using the AGREE II tool. We excluded from the results those guidelines that were not primarily focused on vertigo and dizziness, such as national/international guidelines in which vertigo and dizziness were only briefly mentioned. RESULTS: Our strategy of literature search identified 161 studies, and 18 guidelines were selected for the appraisal. Only five guidelines reached the acceptance level in the overall result (at least 60%), with three of them reaching the highest scores (at least 80%). The highest scores were found in Domain 6 "Editorial Independence," Domain 1 "Scope and purpose," and Domain 4 "Clarity of presentation" (median value = 66%, 62%, and 61%, respectively). The remaining domains showed a low level of quality: Domain 2 "Stakeholder Involvement," Domain 3 "Rigor of development," and Domain 5 "Applicability" had median values of 27%, 27%, and 22%, respectively. The quality of these guidelines was very low, because of low involvement of multidisciplinary teams in writing guidelines recommendations. CONCLUSION: Considering all guidelines, only three had a "high" overall score, whereas 13 of 18 (72%) of them were rated as of "low" quality. Future guidelines might take this into account to improve clinical applicability.

Role of the nigrosome 1 absence as a biomarker in amyotrophic lateral sclerosis.

INTRODUCTION: The absence of nigrosome 1 on brain MRI and the hyperechogenicity of substantia nigra (SNh) by transcranial sonography are two useful biomarkers in the diagnosis of parkinsonisms. We aimed to evaluate the absence of nigrosome 1 in amyotrophic lateral sclerosis (ALS) and to address its meaning. METHODS: 136 ALS patients were recruited, including 16 progressive muscular atrophy (PMA) and 22 primary lateral sclerosis (PLS) patients. The SNh area was measured planimetrically by standard protocols. The nigrosome 1 status was qualitatively assessed by two blind evaluators in susceptibility weight images of 3T MRI. Demographic and clinical data were collected and the C9ORF72 expansion was tested in all patients. RESULTS: Nigrosome 1 was absent in 30% of ALS patients (36% of PLS, 29% of classical ALS and 19% of PMA patients). There was no relationship between radiological and clinical laterality, nor between nigrosome 1 and SNh area. Male sex (OR = 3.63 [1.51, 9.38], p = 0.005) and a higher upper motor neuron (UMN) score (OR = 1.10 [1.02, 1.2], p = 0.022) were independently associated to nigrosome 1 absence, which also was an independent marker of poor survival (HR = 1.79 [1.3, 2.8], p = 0.013). CONCLUSION: In ALS patients, the absence of nigrosome 1 is associated with male sex, UMN impairment and shorter survival. This suggests that constitutional factors and the degree of pyramidal involvement are related to the substantia nigra involvement in ALS. Thus, nigrosome 1 could be a marker of a multisystem degeneration, which in turn associates to poor prognosis.

Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.

BACKGROUND AND PURPOSE: Primary lateral sclerosis (PLS) is a progressive upper motor neuron (UMN) disorder. It is debated whether PLS is part of the amyotrophic lateral sclerosis (ALS) spectrum, or a syndrome encompassing different neurodegenerative diseases. Recently, new diagnostic criteria for PLS have been proposed. We describe four patients of two pedigrees, meeting definite PLS criteria and harboring two different mutations in presenilin 1 (PSEN1). METHODS: Patients underwent neurological and neuropsychological examination, MRI, 18F-fluorodeoxyglucose positron emission tomography (FDG-PET), amyloid-related biomarkers, and next-generation sequencing (NGS) testing. RESULTS: Four patients, aged 25-45 years old, presented with a progressive UMN syndrome meeting clinical criteria of definite PLS. Cognitive symptoms and signs were mild or absent during the first year of the disease but appeared or progressed later in the disease course. Brain MRI showed microbleeds in two siblings, but iron-related hypointensities in the motor cortex were absent. Brain FDG-PET showed variable areas of hypometabolism, including the motor cortex and frontotemporal lobes. Amyloid deposition was confirmed with either cerebrospinal fluid (CSF) or imaging biomarkers. Two heterozygous likely pathogenic mutations in PSEN1 (p.Pro88Leu and p.Leu166Pro) were found in the NGS testing. CONCLUSION: Clinically defined PLS is a syndrome encompassing different neurodegenerative diseases. The NGS testing should be part of the diagnostic workup in patients with PLS, at least in those with red flags, such as early-onset, cognitive impairment, and/or family history of neurodegenerative diseases.

Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation.

BACKGROUND: Recessive mutations in the SLC4A4 gene cause a syndrome characterised by proximal renal tubular acidosis (pRTA), mental retardation, dental and ocular abnormalities, and hemiplegic migraine. Rare cases involving the development of epilepsy or its severe complication-status epilepticus-have been described. METHODS: The clinical and genetic status of four affected members in a Spanish family was studied. The SLC4A4 gene mutation was detected with a next-generation sequencing (NGS) panel in the proband, and Sanger confirmed the putative mutations in affected relatives. In silico analysis was performed to elucidate the putative effect of mutation on the splicing process. RESULTS: A novel mutation, c.2562+2T>G, was identified in the homozygous state in all diseased members of the family. This mutation affected a canonical splice site and is predicted to abolish the wild-type donor site, which predicts a premature truncated NBCe1 protein with cotransport activity. The resulting protein lacks the 190 amino acids of the carboxyl-terminus, and the effect is likely to be a loss of function. All patients suffered from severe pRTA and ocular abnormalities, and the adults also suffered from neurological complications, such as hemiplegic migraine and/or epilepsy. Two developed life-threatening status epilepticus, although they fully recovered and remained free of seizures with valproate. CONCLUSION: These results expand the clinical and mutational spectra of SLC4A4-related disease and have implications for understanding the potential role of NBCe1 in the pathophysiologic processes of hemiplegic migraine and epilepsy/status epilepticus associated with the mutation.

Disturbance and the elevation ranges of woody plant species in the mountains of Costa Rica.

AIM: To understand how disturbance-here defined as a transient reduction in competition-can shape plant distributions along elevation gradients. Theory suggests that disturbance may increase elevation ranges, especially at the lower range limits, through reduced competitive exclusion. Nevertheless, to date this relationship remains unclear. LOCATION: Mountains of Costa Rica. METHODS: We compared the elevation range of woody stems over 10 cm dbh ("trees") observed in plots along two transects spanning a range of elevations in secondary (regrowth) and old-growth forest (409 and 249 species, respectively). We also estimated these elevation ranges using nationwide data. In addition, we examined the influence of stem size and plot scale basal area (as a measure of competition) on species elevation range limits in the two gradients. RESULTS: In general, tree species ranges increased with elevation. Species in the secondary forest had broader elevation ranges (100-318 m broader than species in the old-growth forest; Wilcoxon: p-value <.001). Also, in the secondary transect, individuals with greater diameters had broader elevation ranges than those observed as smaller trees (137 m broader; Kruskal-Wallis: p-value = .03). The lower range limit of species occurred more frequently in plots with lower (vs. higher) basal area than expected by chance in both forest types. We also observed higher elevation upper limits in old growth, but not in secondary forests, with lower (vs. higher) basal area. MAIN CONCLUSION: Disturbance relaxes the constraints imposed by competition and extends effective elevation ranges of species, particularly those in secondary forest, to warmer and cooler climates (minimum increase equivalent to about 0.6-1.4°C). Thus, suitable disturbance may assist species persistence under climate change. We believe this is the first study indicating a consistent relation between disturbance and woody plant species distributions along elevation gradients.

Imaging Biomarkers for the Diagnosis and Prognosis of Neurodegenerative Diseases. The Example of Amyotrophic Lateral Sclerosis.

The term amyotrophic lateral sclerosis (ALS) comprises a heterogeneous group of fatal neurodegenerative disorders of largely unknown etiology characterized by the upper motor neurons (UMN) and/or lower motor neurons (LMN) degeneration. The development of brain imaging biomarkers is essential to advance in the diagnosis, stratification and monitoring of ALS, both in the clinical practice and clinical trials. In this review, the characteristics of an optimal imaging biomarker and common pitfalls in biomarkers evaluation will be discussed. Moreover, the development and application of the most promising brain magnetic resonance (MR) imaging biomarkers will be reviewed. Finally, the integration of both qualitative and quantitative multimodal brain MR biomarkers in a structured report will be proposed as a support tool for ALS diagnosis and stratification.

Brain signal intensity changes as biomarkers in amyotrophic lateral sclerosis.

OBJECTIVES: To evaluate the contribution of the demographical, clinical, analytical and genetic factors to brain signal intensity changes in T2-weighted MR images in amyotrophic lateral sclerosis (ALS) patients and controls. METHODS: Susceptibility-weighted and FLAIR sequences were obtained in a 3T MR scanner. Iron-related hypointensities in the motor cortex (IRhMC) and hyperintensities of the corticospinal tract (HCT) were qualitatively scored. Age, gender, family history and clinical variables were recorded. Baseline levels of ferritin were measured. C9orf72 was tested in all patients and SOD1 only in familial ALS patients not carrying a C9orf72 expansion. Patients who carried a mutation were categorized as genetic. Associations of these variables with visual scores were assessed with multivariable analysis. RESULTS: A total of 102 ALS patients (92 non-genetic and 10 genetic) and 48 controls (28 ALS mimics and 20 healthy controls) were recruited. In controls, IRhMC associated with age, but HCT did not. In ALS patients, both HTC and IRhMC strongly associated with clinical UMN impairment and bulbar onset. The intensity/extent of IRhMC in the different motor homunculus regions (lower limbs, upper limbs and bulbar) were linked to the symptoms onset site. Between genetic and sporadic patients, no difference in IRhMC and HCT was found. CONCLUSIONS: IRhMC and HCT are reliable markers of UMN degeneration in ALS patients and are more frequent in bulbar onset patients, independently of the mutation status. Age should be considered when evaluating IRhMC. The regional measurement of IRhMC following the motor homunculus could be used as a measure of disease progression.

Indications and radiological findings of acute otitis media and its complications. / Indicaciones y hallazgos radiológicos de la otitis media aguda y sus complicaciones.

Most cases of acute otitis media resolve with antibiotics and imaging is not required. When treatment fails or a complication is suspected, imaging plays a crucial role. Since the introduction of antibiotic treatment, the complication rate has decreased dramatically. Nevertheless, given the critical clinical relevance of complications, the importance of early diagnosis is vital. Our objective was to review the clinical and radiological features of acute otitis media and its complications. They were classified based on their location, as intratemporal or intracranial. Imaging makes it possible to diagnose the complications of acute otitis media and to institute appropriate treatment. Computed tomography is the initial technique of choice and, in most cases, the ultimate. Magnetic resonance is useful for evaluating the inner ear and when accurate evaluation of disease extent or better characterization of intracranial complications is required.

Imaging diagnostics: congenital malformations and acquired lesions of the inner ear.

INTRODUCTION: Congenital malformations and acquired lesions of the inner ear are characterised by small structural changes in this region. In recent decades, treatment options have improved considerably. At the same time, there has been a great advancement in diagnostic methods, obtaining high-resolution labyrinth images. Currently, we use a 64-multislice computed tomography scanner in spiral mode (Brilliance 64 Phillips, Eindhoven, the Netherlands), with an overlap of 0.66 mm and an interval of 0.33 mm, 120 KV and 300 mA. The magnetic resonance images were taken with Signa HDxt 1.5 and 3.0 T units (GE Healthcare, Waukesha, WI, USA). We reviewed the radiological features of the lesions affecting the inner ear. They are classified as congenital (labyrinth malformation and statoacoustic nerve deficiencies) or acquired (otospongiosis, labyrinthitis, Ménière's disease, inner ear haemorrhage, intralabyrinthine schwannoma and endolymphatic sac tumour). CONCLUSION: Magnetic resonance imaging and computed tomography play an essential role in diagnosing patients with inner ear pathology. The technique selected should be chosen depending on the clinical setting. In a generic way, tomography is the method of choice for the study of traumatic pathology or otospongiosis. When tumour or inflammatory pathology is suspected, magnetic resonance is superior. In cases of congenital malformation, both techniques are complementary.

Uncommon occupational lung diseases: high-resolution CT findings.

OBJECTIVE: The purpose of this article is to describe the high-resolution CT (HRCT) features of uncommon occupational lung diseases. CONCLUSION: HRCT plays an increasing role in the evaluation of occupational lung diseases. We present several cases of unusual occupational lung diseases and their HRCT findings. The diseases studied were siderosis, talcosis, berylliosis, calcicosis, hypersensitivity pneumonitis (due to wheat flour and isocyanates), and Ardystil syndrome. The characteristic HRCT findings together with clinical features and related occupational history improve the diagnostic accuracy of these diseases.