Adie's Pupil: A Diagnostic Challenge for the Physician.

Adie's pupil, also called tonic pupil, is mainly seen in young women. Most patients have unilateral eye involvement. The pupil of the affected side is significantly larger than that on the healthy side. The direct and indirect light reflection from the pupil on the affected side disappears. The pupil on the affected side is sensitive to low concentrations of pilocarpine. The pathogeneses of Adie's pupil are complex, some of which are insidious and lack corresponding specific diseases. Through a literature review, we found that Adie's pupil is mainly associated with infectious diseases, most commonly syphilis, followed by immune diseases and paraneoplastic syndromes. The ophthalmological symptoms and pupil abnormalities can disappear after active treatment of the primary disease. Pilocarpine can be used to treat ophthalmologic symptoms, such as blurred vision, for which patients might visit an ophthalmologist or neurologist. It is essential for clinicians to improve their understanding of the disease to avoid misdiagnosis. Differential diagnosis between Adie's pupil, oculomotor nerve palsy, anticholinergic drug overdose, Argyll-Robertson pupil, and congenital mydriasis need to be identified by the physician. Here, the clinical manifestations, pathogenesis, relationship between Adie's pupil and diseases, and differential diagnosis of Adie's pupil are reviewed.

Contrast-induced encephalopathy with significantly elevated levels of cerebrospinal fluid protein.

Contrast-induced encephalopathy (CIE) is a rare complication of angiography. According to our knowledge, the majority of CIE reports is imaging observations and rarely includes results of cerebrospinal fluid (CSF) tests. Furthermore, among the cases reporting the data for CSF testing, most of the results were normal. Here, we report a case of CIE presenting with significantly elevated levels of CSF protein. We found that the course of improvement in brain imaging findings was not consistent with the severity of clinical manifestations. The diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) sequences were normal. Considering the lack of convenient direct indicators to observe blood-brain barrier (BBB) function, changes in the levels of CSF protein may be related to BBB permeability and recovery and may serve as a potential prognostic marker.

Wallerian degeneration of bilateral cerebral peduncles after acute carbon monoxide poisoning.

BACKGROUND: Cases of Wallerian degeneration of bilateral cerebral peduncles after acute carbon monoxide poisoning have not yet been reported. To date, most of the delayed encephalopathy after acute carbon monoxide poisoning (DEACMP) lesions captured in magnetic resonance imaging (MRI) has been located in the subcortical white matter and basal ganglia. Here we report two cases of DEACMP with abnormalities in the bilateral cerebral peduncles. The etiology of abnormalities, which were strictly confined to the bilateral cerebral peduncles, was Wallerian degeneration secondary to upstream nerve axonal damage, making this the first report on such bilateral cerebral peduncle abnormalities after DEACMP. CASE PRESENTATION: In this report, we present two cases of DEACMP with abnormal signals in the bilateral cerebral peduncles captured during brain MRIs. Case 1 was of a 68-year-old man who presented with paroxysmal disturbance of the consciousness, left limb weakness for 16 days, and lagging responses for 2 days. Case 2 was of a 55-year-old man who was unconscious for 6 h. In addition to the above mentioned characteristics on the brain MRIs, the electroencephalography of case 1 indicated that his forehead scans had a mixture of wide sharp, sharp, and three-phase waves. Brain diffusion tensor imaging of case 2 further proved that the bilateral cerebral anomalies represented Wallerian degeneration secondary to upstream axonal damage. After the definitive diagnosis, the patients returned to the local hospital for hyperbaric oxygen therapy. CONCLUSIONS: Wallerian degeneration of the bilateral cerebral peduncles after acute carbon monoxide poisoning has never been reported before. The abnormal signals in the bilateral cerebral peduncles captured during brain MRIs indicated Wallerian degeneration secondary to upstream axonal damage; thus, these two cases may further our understanding of DEACMP imaging.

Frequency and Pathophysiology of Post-Seizure Todd's Paralysis.

Todd's paralysis, a neurological abnormality characterized by temporary limb weakness or hemiplegia, typically occurs following a seizure, without enduring consequences. Since limb weakness or hemiplegia can also be a common symptom of an acute ischemic stroke, it is often difficult to diagnose Todd's paralysis in individuals experiencing an acute ischemic stroke if they do not have a pre-existing history of epilepsy. Given that there is a limited understanding of Todd's paralysis, this review discusses the history, prevalence, clinical manifestations, duration, etiology, and diagnosis of Todd's paralysis. A few factors that may help clinicians distinguish Todd's paralysis from other clinical indications are as follows: (1) Todd's paralysis is commonly observed after partial seizures or generalized tonic-clonic seizures. (2) The incidence of Todd's paralysis is greater if the epilepsy is associated with old age or stroke history. (3) The duration of Todd's paralysis can range from minutes to days, depending on the type of seizure or whether the patient has experienced cortical structural damage. (4) The etiology of Todd's paralysis is associated with cerebral perfusion abnormality after seizures. Further research is needed to explore factors that distinguish Todd's paralysis from other indications that may lead to limb weakness in order to improve the diagnosis of Todd's paralysis.

First Report of Fusarium xylarioides Causing Root and Stem Rot on Aloe vera in China.

Aloe vera (L.) Burm f. is a perennial herb belonging to the family liliaceae. It is widely grown for medicinal, cosmetic and vegetable use. In 2018 and 2019, a root rot disease occurred on potted A. vera plants in a nursery in the Hunan Province of China. Symptoms of the disease include water soaking lesions, brown spots on taproot or basal part of the stem. The plants were easy to pull out when the taproot is rotten or necrotic. As the disease progressed upward, leaves in the basal part of stems became red-brown and gradually fell off. In severe cases, the whole plants became rotten and wilted. For isolation purposes, diseased tissues were excised from the lesion margins, surface disinfested with 70% ethanol for 10 s, 0.1% HgCl2 for 2 min, rinsed with sterile water thrice, and then placed on potato dextrose agar (PDA) and incubated at 26°C for 3 days in the dark. When cultured on PDA, fungal strains with similar morphology were consistently isolated and purified by single spore isolation. Colonies showed thick, pink aerial mycelium with a growth rate of 1.3 cm /day. The pigmentation was more intense in the colony center and became pale orange and white at the edge of colony. When cultured on SNA (Spezieller Nährstoffarmer agar), the fungus showed less pigmentation and thinner hyphae. Microconidia were abundantly produced, clavate and oval to kidney shaped, 7.1 to 15.2 µm × 2.5 to 5.1 µm, with 0 to 1 transverse septa. Macroconidia were sickle shaped, slender, slightly incurved in apical cell and foot-shaped in the basal cell, measured 27.9 to 53.2 µm × 2.5 to 3.5 µm, with 3 to 5 septa. These morphological characteristics were similar with those of Fusarium spp. (Booth 1971). For molecular identification, genomic DNA of the fungus was extracted by cetyl trimethyl ammonium bromide method. A portion of EF-1α (translation elongation factor 1-α) and RPB1 (the largest subunit of RNA polymerase) genes were amplified and directly sequenced using the EF-1/EF-2 and Fa/G2R primers (O'Donnell et al. 2010). The EF-1α and RPB1 were deposited in the GenBank with accession numbers MT755386 and MT755387. The EF-1α and RPB1 had 97.14% (ID FD_01334) and 99.62% identity (FD_03853), respectively, to F. xylarioides strains in the Fusarium-ID database (Geiser et al. 2004). In addition, the EF1-a showed 96.825% identity to the F. lateritium CBS 119871(AM295281) (a synonym of F. xylarioides), and the RPB1 showed 99.623% identity to the F. xylarioides NRRL 25486 (JX171517.1). Accordingly, the fungus was putatively identified to be F. xylarioides. For pathogenicity assay, A.vera seedlings were pot planted using sterilized nursery soil and inoculated with conidia suspension (1 × 105 conidia/ml), which were eluted from 7-day-old PDA cultures with sterilized water, according to the method described previously (Vakalounakis et al. 2015). The collar of each potted plant was poured with 20 ml of conidia suspensions. Plants mock inoculated with sterile water were used as control. All the inoculated plants were placed in a growth chamber at 25°C under 12/12 h light/dark cycle. The inoculation assays were carried out twice, with each one had three replicated plants. After 30 days, rot symptoms seen from the roots and basal part of stems were observed on the inoculated plants, but no visible symptoms were observed on control plants. The fungus was re-isolated from the inoculated plants and identified to be F. xylarioides by morphological and molecular characteristics, thus confirming Koch's postulates. As we know, many Fusarium species have been reported to cause root and stem rot disease in A.vera such as the F. oxysporum (Ji et al. 2007) and F. solani (Vakalounakis et al. 2015). However, to the best of our knowledge, this is the first report of F. xylarioides causing root and stem rot disease of A.vera in China. The identification of the pathogen fungus might provide a foundation for taking appropriate control strategies to this disease.

Paroxysmal Sympathetic Hyperactivity After Acquired Brain Injury: An Integrative Review of Diagnostic and Management Challenges.

Paroxysmal sympathetic hyperactivity (PSH) mainly occurs after acquired brain injury (ABI) and often presents with high fever, hypertension, tachycardia, tachypnea, sweating, and dystonia (increased muscle tone or spasticity). The pathophysiological mechanisms of PSH are not fully understood. Currently, there are several views: (1) disconnection theory, (2) excitatory/inhibitory ratio, (3) neuroendocrine function, and (4) neutrophil extracellular traps. Early diagnosis of PSH remains difficult, given the low specificity of its diagnostic tools and unclear pathogenesis. According to updated case analyses in recent years, PSH is now more commonly observed in patients with stroke, with tachycardia and hypertension as the main clinical manifestations, which is not fully consistent with previous data. To date, the PSH Assessment Measure tool is optimal for the early identification of PSH and stratification of symptom severity. Clinical strategies for the management of PSH are divided into three main points: (1) reduction of stimulation, (2) reduction of sympathetic excitatory afferents, and (3) inhibition of the effects of sympathetic hyperactivity on target organs. However, use of drugs and standards have not yet been harmonized. Further investigation on the relationship between PSH severity and long-term neurological prognosis in patients with ABI is required. This review aimed to determine the diagnostic and management challenges encountered in PSH after ABI.

The Role of Astrocytes in Migraine with Cortical Spreading Depression: Protagonists or Bystanders? A Narrative Review.

Cortical spreading depression (CSD) is a slow wave of cortical depolarization closely associated with migraines with an aura. Previously, it was thought that CSD depolarization was mainly driven by neurons, with characteristic changes in neuronal swelling and increased extracellular potassium (K+) and glutamate. However, the role of astrocytes, a member of the neurovascular unit, in migraine with CSD has recently received increasing attention. In the early stages of CSD, astrocytes provide neurons with energy support and clear K+ and glutamate from synaptic gaps. However, in the late stages of CSD, astrocytes release large amounts of lactic acid to exacerbate hypoxia when the energy demand exceeds the astrocytes' compensatory capacity. Astrocyte endfoot swelling is a characteristic of CSD, and neurons are not similarly altered. It is primarily due to K+ influx and abnormally active calcium (Ca2+) signaling. Aquaporin 4 (AQP-4) only mediates K+ influx and has little role as an aquaporin. Astrocytes endfoot swelling causes perivascular space closure, slowing the glymphatic system flow and exacerbating neuroinflammation, leading to persistent CSD. Astrocytes are double-edged swords in migraine with CSD and may be potential targets for CSD interventions.

Resistance training combined with ß-hydroxy ß-methylbutyrate for patients with critical illness: A four-arm, mixed-methods, feasibility randomised controlled trial.

OBJECTIVES: This study aimed to assess the feasibility, safety, acceptability, and potential effectiveness of resistance training (RT) with or without ß-Hydroxy ß-Methylbutyrate (HMB) intervention program for ICU patients. DESIGN: Open-label, parallel group, mixed method, randomized controlled trial. SETTINGS: A tertiary general hospital in Fuzhou, China. METHODS: Participants were randomly allocated to one of four groups. The RT group received supervised multilevel resistance training (RT) using elastic bands, administered by trained ICU nurses. The HMB group received an additional daily dose of 3.0 g HMB. The combination group underwent both interventions concurrently, while the control group received standard care. These interventions were implemented throughout the entire hospitalization period. Primary outcomes included feasibility indicators such as recruitment rate, enrollment rate, retention rate, and compliance rate. Secondary outcomes covered adverse events, acceptability (evaluated through questionnaires and qualitative interviews), and physical function. Quantitative analysis utilized a generalized estimation equation model, while qualitative analysis employed directed content analysis. RESULTS: All feasibility indicators met predetermined criteria. Forty-eight patients were randomly assigned across four arms, achieving a 96% enrollment rate. Most patients adhered to the intervention until discharge, resulting in a 97.9% retention rate. Compliance rates for both RT and HMB interventions approached or exceeded 85%. No adverse events were reported. The intervention achieved 100% acceptability, with a prevailing expression of positive experiences and perception of appropriateness. The RT intervention shows potential improvement in physical function, while HMB does not. CONCLUSIONS: Implementing nurse-led resistance training with elastic bands with or without HMB proved to be feasible and safe for ICU patients. IMPLICATIONS FOR CLINICAL PRACTICE: A large-scale, multicenter clinical trials are imperative to definitively assess the impact of this intervention on functional outcomes in this population.

Cerebral endothelial cells mediated enhancement of brain pericyte number and migration in oxygen-glucose deprivation involves the HIF-1α/PDGF-ß signaling.

The present study focused on whether hypoxia-inducible factor-1alpha (HIF-1α) and platelet-derived factor-beta (PDGF-ß) are involved in the crosstalk between brain microvascular endothelial cells (BMECs) and brain vascular pericytes (BVPs) under ischaemic-hypoxic conditions. Mono-cultures or co-cultures of BVPs and BMECs were made for the construction of the blood-brain barrier (BBB) model in vitro and then exposed to control and oxygen-glucose deprivation (OGD) conditions. BBB injury was determined by assessing the ability, apoptosis, and migration of BVPs and the transendothelial electrical resistance and horseradish peroxidase permeation of BMECs. Relative mRNA and protein levels of HIF-1α and PDGF-ß, as well as tight junction proteins ZO-1 and claudin-5 were analyzed by western blotting, reverse transcription quantitative PCR, and/or immunofluorescence staining. Dual-luciferase reporter assays assessed the relationship between PDGF-ß and HIF-1α. Co-culturing with BMECs alleviated OGD-induced reduction in BVP viability, elevation in BVP apoptosis, and repression in BVP migration. Co-culturing with BVPs protected against OGD-induced impairment on BMEC permeability. OGD-induced HIF-1α upregulation enhanced PDGF-ß expression in mono-cultured BMECs and co-cultured BMECs with BVPs. Knockdown of HIF-1α impaired the effect of BMECs on BVPs under OGD conditions, and PDGFR-ß silencing in BVPs blocked the crosstalk between BMECs and BVPs under OGD conditions. The crosstalk between BMECs and BVPs was implicated in OGD-induced BBB injury through the HIF-1α/PDGF-ß signaling.

Rectangular method: a modified technique for sampling the ischemic border zone in a rat model of transient middle cerebral artery occlusion.

To date, there have been three common methods for sampling the cerebral ischemic border zone in a rat model of transient middle cerebral artery occlusion (tMCAO): the "two o'clock method", the "diagonal method", and the "parallel line method". However, these methods have their own advantages and limitations. Here, we propose a modified technique (the "rectangular method") for sampling the ischemic border zone. A rat tMCAO model was prepared under the support of a compact small animal anesthesia machine. Cerebral blood flow was monitored by high-resolution laser Doppler to control the quality of modeling, and 2,3,5-triphenyl tetrazolium chloride (TTC) staining was used for cerebral infarction location assessment. Superoxide dismutase 2 (SOD2), cysteinyl aspartate specific proteinase (caspase)-3, caspase-9, and heat shock protein 70 (HSP70) were used to verify the reliability and reproducibility of the rectangular method. The expression of biomarkers (SOD2, caspase-3, caspase-9, and HSP70) in the traditional (two o'clock method after TTC staining) and modified (rectangular method) groups were increased. There were no significant differences between the groups. The rectangular method proposed herein is based on a modification of the diagonal method and parallel line method, which could provide a directly observable infarct borderline and a sufficient sampling area for subsequent experimental operations regardless of the cerebral infarct location. The assessed biomarkers (SOD2, caspase-3, caspase-9, and HSP70) demonstrated the reliability and reproducibility of the rectangular method, which may facilitate inter-laboratory comparisons.

Effects of elevated atmospheric CO2 concentration on nonstructural carbohydrates and grain quality of maize.

We used open-top chambers (OTCs) to simulate the conditions of elevated atmospheric CO2 concentration at the Changwu State Key Agro-Ecological Experimental Station of the Loess Plateau. There were three treatments, CK (maize grown under field conditions with natural atmospheric CO2 concentration), OTC (maize grown in the open-top chamber under natural atmospheric CO2 concentration), and OTCe (maize grown in the open-top chamber under elevated atmospheric CO2 concentration of 700 µmol·mol-1).We explored the responses of non-structural carbohydrate (NSC) and grain quality (soluble sugar, starch and crude protein) of spring maize to elevated CO2 at different growth stages, aiming to provide scientific basis for revealing the adaptation mechanism of maize to elevated CO2. The results showed that the effects of elevated CO2 on NSC content and accumulation in maize varied across organs and growth periods. Elevated CO2 promoted the activation and redistribution of NSC in leaves, stems and roots during reproductive growth period, and significantly increased the amount of NSC conversion to the grains (ATMNSC), as well as the conversion rate to the grains (ARNSC) and the contribution to the grains (ACNSC) in leaves, stems and roots. Compared with CK, the warming effect of OTC inhibited the activation and redistribution of NSC in stems and roots, but promoted the activation and redistribution of NSC in leaves, significantly increased the ATMNSC, ARNSC, and ACNSC of maize leaves. Elevated CO2 did not affect the contents of soluble sugar, starch, and crude protein in maize grains.

Case report: Hypnic headache responds to agomelatine-a potential prophylactic treatment option.

Introduction: Hypnic headache (HH) is a rare primary headache that is characterized by strict sleep-related attacks. However, the pathophysiology of HH remains unclear. The nocturnal nature of this activity suggests a hypothalamic involvement. The pathogenesis of HH may involve the brain structure that regulates circadian rhythms and is related to an imbalance between hormones, such as melatonin and serotonin. Currently, evidence-based medicine for HH pharmacotherapy is lacking. Acute and prophylactic treatment of HH is based on only a few case reports. Here, we report a case study in which agomelatine showed desirable responsiveness for the prophylactic treatment of HH for the first time. Case description: We present the case of a 58-year-old woman with a 3-year history of nocturnal left temporal pain that awakened her during the wee hours. Brain magnetic resonance imaging did not reveal any midline structural abnormalities associated with circadian rhythms. Polysomnography revealed headache-related awakening at approximately 5:40 am, after the last rapid eye movement phase. No sleep apnea-hypopnea events were observed, without oxygen saturation or blood pressure abnormalities. The patient was prescribed agomelatine 25 mg at bedtime as a prophylactic treatment. In the following month, the frequency and severity of the headaches decreased by 80%. After 3 months, the patient's headache completely resolved, and the medication was discontinued. Conclusion: HH only occurs during sleep in the real world, leading to substantial sleep disturbances in older populations. Headache center neurologists need to focus on the prophylactic treatment of patients before bedtime to avoid nocturnal awakening. Agomelatine is a potential prophylactic treatment option for patients with HH.

Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease.

High temperature requirement serine peptidase A1 (HTRA1) related cerebral small vessel disease (CSVD) includes both symptomatic heterozygous HTRA1 variant carrier and cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) patients. Presently, most reported symptomatic heterozygous HTRA1 variant carrier cases are sporadic family reports with a lack of specific characteristics. Additionally, the molecular mechanism of heterozygous HTRA1 gene variants is unclear. We conducted this review to collect symptomatic carriers of heterozygous HTRA1 gene variants reported as of 2022, analyzed all pathogenicity according to American College of Medical Genetics and Genomics (ACMG) variant classification, and summarized the cases with pathogenic and likely pathogenic HTRA1 variants gender characteristics, age of onset, geographical distribution, initial symptoms, clinical manifestations, imaging signs, HTRA1 gene variant information and to speculate its underlying pathogenic mechanisms. In this review, we summarized the following characteristics of pathogenic and likely pathogenic symptomatic HTRA1 variant carriers: to date, the majority of reported symptomatic HTRA1 carriers are in European and Asian countries, particularly in China which was found to have the highest number of reported cases. The age of first onset is mostly concentrated in the fourth and fifth decades. The heterozygous HTRA1 gene variants were mostly missense variants. The two variant sites, 166-182 aa and 274-302 aa, were the most concentrated. Clinicians need to pay attention to de novo data and functional data, which may affect the pathogenicity analysis. The decrease in HtrA1 protease activity is currently the most important explanation for the genetic pathogenesis.

Basilar dolichoectasia with intermural hematoma accompanied by cerebral microbleeds and white matter hyperintensities: A case report.

RATIONALE: The clinical manifestations of basilar dolichoectasia (BD) are variable. The diagnosis is based on imaging measurements. Digital subtraction angiography displays only the dilated vascular lumen and lacks visualization of the arterial wall. High-resolution Magnetic resonance imaging (MRI) can identify intramural hematoma; therefore, it may be more suitable for the imaging evaluation of BD. However, most of the existing literature pertaining to BD lacks vascular wall assessment. PATIENT CONCERNS: A 65-year-old Chinese man perceived weakness of the left upper and lower limb, double vision, dizziness, nausea, and vomiting was admitted to the emergency department. Fifteen years prior to this admission, he began taking levamlodipine besylate inconsistently for hypertension, but the level of blood pressure control was uncertain. The patient's father had a family history of hypertension. DIAGNOSES: An emergency axial computed tomography scan of the brain showed basilar artery (BA) dilation. Computed tomography angiography further indicated a maximum BA diameter of 38.94 mm. The length was >182 mm. MRI revealed acute infarctions of the right medulla oblongata and pons. Meanwhile, the patient had evidence of cerebral small vessel disease, including cerebral microbleeds and white matter hyperintensities. Whole-exome sequencing eliminated significant genetic variations consistent with clinical phenotypes. BD and intramural hematoma were further confirmed by high-resolution MRI of the arterial wall. INTERVENTIONS: Atorvastatin was admitted according to the results of the high-resolution MRI of the arterial wall. Benidipine hydrochloride was selected as a long-term anti-hypertensive drug. OUTCOMES: The patient had no symptoms of neurological damage during 3-month follow-up. LESSONS: Current evidence shows that BD has no obvious correlation with atherosclerosis. BA dissection and uncontrolled hypertension may be important factors in the progression of BD. BD-related stroke is likely to recur, and there are no standard secondary prevention measures. BD is often accompanied by cerebral microbleeds, and bleeding risk must be assessed during secondary prevention. When the BA diameter is greater than 10 mm, anti-platelet medication should be used with caution, blood pressure should be strictly controlled, and endovascular treatment should be considered.

Migraine with Brainstem Aura Accompanied by Disorders of Consciousness.

Migraine with brainstem aura (MBA) accompanied by disorders of consciousness (DOC) is a rare subtype of migraine. The pathophysiology of MBA with DOC has not been elucidated yet. Some patients have a family history of migraine, and women are more affected than men. The aura symptoms are diverse; however, when MBA is combined with DOC, the clinical manifestations are more complicated. Coma is the most common clinical manifestation. The overall duration of the patient's DOC is short and can often return to normal within half an hour. Headache often occurs after regaining consciousness and can also occur at the same time as DOC. The most common headache is located at the occipital region. Although DOC is reversible, considering the current small number of cases, we still need to improve our understanding of the disease to avoid misdiagnosis. The MBA patient's electroencephalogram and cerebral blood flow perfusion may have transient changes and may return to normal in the interictal period or after the DOC. Although triptans have traditionally been contraindicated in MBA under drug instructions, the evidence of basilar artery constriction, as postulated in MBA, is lacking. Lasmiditan is currently the first and only 5-HT 1F receptor agonist approved by the Food and Drug Administration. The calcitonin gene-related peptide receptor antagonists and monoclonal antibody therapies may be the most promising for future consideration. Here, the pathophysiology, clinical manifestations, diagnostic tools, and treatment progress for MBA with DOC are reviewed.

Type II Alexander disease with fragile X mental retardation 1 gene mutation.

Alexander disease (AxD) is a rare, autosomal dominant genetic disorder with an incidence of approximately 1 in 27,00.000. It is caused by a missense mutation in the GFAP gene encoding the glial fibrillary acidic protein. Fragile X-associated tremor/ataxia syndrome (FXTAS) is an X-linked dominant genetic disease, usually caused by a pre-mutation: an unmethylated expansion in the range of 50-200 CGG repeats in the fragile X mental retardation 1 (FMR1) gene. The clinical manifestations of these two diseases are complex and have some similarities. Both type II AxD and FXTAS may have ataxia as the first symptom. Here, we describe a case of type II AxD with ataxia as the first symptom accompanying a hemizygous mutation in the FMR1 gene (NM_001185081, exon13, c 0.1256C>T, p.T419M, g 0.147026507C>T). A sporadic genetic mutation led us to misdiagnose the patient with FXTAS initially. Whole-genome sequencing confirmed a heterozygous mutation in the GFAP gene (NM_002055.5, exon4, c 0.1158C>A, p.N386K, g 0.6310C>A). This report indicates that when the patient's clinical manifestation is ataxia, and imaging results suggest that the midbrain, medulla oblongata, and other subcerebellar structures are atrophied, AxD should be considered. Whole-genome sequencing is thus feasible to avoid missed diagnoses and misdiagnoses.

[Effects of irrigation lower limit and straw returning amount on yield, quality and water use efficiency of greenhouse tomato]. / 灌水下限及秸秆还田对温室番茄产量、品质和水分利用效率的影响.

A split plot experiment was conducted in greenhouse to investigate the effects of irrigation lower limit and maize straw returning on the yield, quality, and water use efficiency (WUE) of tomato. Maize straw was applied for 1 (2018, A1), 2(2017, A2), and 3 (2016, A3) years at different amounts (0, 1.5×104, 3×104, 4.5×104 kg·hm-2) and different irrigation lower limits (50%θf, 60%θf, 70%θf, 80%θf, θf was the field water capacity). Variance analysis, entropy-weight and TOPSIS methods were used to examine the responses of yield, quality and water use efficiency (WUE) of tomato. The results showed that tomato yield was enhanced by the increases of irrigation lower limit. The maximum value of yield was observed in the 80%θf treatments, with the maximum average yield of 93.55 t·hm-2 in A1, 87.23 t·hm-2 in A2, and 99.34 t·hm-2 in A3, respectively. WUE and quality of tomato decreased with increasing irrigation lower limit. In the first year of straw returning, the maximum average yield of tomato was 99.60 t·hm-2 in straw returning 1.5×104 kg·hm-2 . In the second and third years, 4.5×104 kg·hm-2 straw returning had the highest average yield of tomato, which was 92.50 and 107.75 t·hm-2, respectively. The maximum WUE was observed with the straw returning of 1.5×104 kg·hm-2 in A1 and A2, while in the A3 treatment it happened in straw returning of 4.5×104 kg·hm-2. The quality index of tomato showed different trends with the increases of straw returning years and amount.

Ischemic stroke in the combined territories of the septum pellucidum and the cingulate gyrus: A case report and literature review.

INTRODUCTION: Cases of isolated septum pellucidum infarction have not yet been reported. To date, there are only 2 stroke reports involving septum pellucidum infarction. The etiology of septum pellucidum infarction was subcallosal artery (ScA) injury. The abnormalities were strictly confined to the septum pellucidum and the right cingulated gyrus, making this the first case to report such confined abnormalities. PATIENT CONCERNS: In this report, we present a case of ischemic stroke confined to the septum pellucidum and cingulated gyrus in a 48-year-old male patient who presented with transient ischemic attack-like paroxysmal lower left limb weakness. DIAGNOSIS: Even no obvious abnormalities were revealed by an emergency computed tomography, the infarction in the combined territories of the septum pellucidum and the cingulate gyrus was detected on magnetic resonance imaging. INTERVENTIONS: Aspirin with clopidogrel was administered for 3 weeks as a secondary preventive drug. Clopidogrel was selected as a long-term antiplatelet drug based on a thromboelastogram. OUTCOMES: The patient showed no positive signs related to the nervous system in the hospital, and there was no recurrence during the 3-month follow-up. CONCLUSIONS: Infarction in the septum pellucidum and cingulate gyrus is rare and has atypical clinical manifestations. Physical examination may not yield obvious positive signs. False-negative computed tomography findings of the head may result in misdiagnosis. Thus, it is necessary to perform whole-brain magnetic resonance imaging in time. Moreover, ScA protection should be paid attention to during surgery for anterior communicating artery aneurysm.

A Victorivirus and Two Novel Mitoviruses Co-Infected the Plant Pathogen Nigrospora oryzae.

Three dsRNAs, in sizes of approximately 2.5⁻5 kbp, were detected in the plant pathogenic fungus Nigrospora oryzae strain CS-7.5-4. Genomic analysis showed that the 5.0 kb dsRNA was a victorivirus named as Nigrospora oryzae victorivirus 2 (NoRV2). The genome of NoRV2 was 5166 bp in length containing two overlapping open reading frames (ORFs), ORF1 and ORF2. ORF1 was deduced to encode a coat protein (CP) showing homology to the CPs of viruses belonging to the Totiviridae family. The stop codon of ORF1 and the start codon of ORF2 were overlapped by the tetranucleotide sequence AUGA. ORF2 was predicted to encode an RNA-dependent RNA polymerase (RdRp), which was highly similar to the RdRps of victoriviruses. Virus-like particle examination demonstrated that the genome of NoRV2 was solely encapsidated by viral particles with a diameter of approximately 35 nm. The other two dsRNAs that were less than 3.0 kb were predicted to be the genomes of two mitoviruses, named as Nigrospora oryzae mitovirus 1 (NoMV1) and Nigrospora oryzae mitovirus 2 (NoMV2). Both NoMV1 and NoMV2 were A-U rich and with lengths of 2865 and 2507 bp, respectively. Mitochondrial codon usage inferred that each of the two mitoviruses contains a major large ORF encoding a mitoviral RdRp. Horizontal transfer experiments showed that the NoMV1 and NoMV2 could be cotransmitted horizontally via hyphal contact to other virus-free N. oryzae strains and causes phenotypic change to the recipient, such as an increase in growth rate. This is the first report of mitoviruses in N. oryzae.

Characterization of a Novel Ourmia-Like Mycovirus Infecting Magnaporthe oryzae and Implications for Viral Diversity and Evolution.

Here, the molecular characterization of a novel mycovirus that was isolated from a phytopathogenic fungus Magnaporthe oryzae and designed as Magnaporthe oryzae ourmia-like virus 4 (MOLV4) is reported. MOLV4 has a genome that is 2497 bp long and possesses a single open reading frame (ORF), which encodes the product RNA-dependent RNA polymerase (RdRp). Sequence similarities were found between the MOLV4 encoded RdRp and the counterparts of a few previously reported ourmia-like mycoviruses. Virus-curing and biological comparison indicate that the virus has no or mild effects on the morphology and mycelium growth rate of the host fungus. Phylogenetic analysis using the RdRp aa sequences was performed. The results show that MOLV4 is clustered with the ourmia-like mycoviruses, forming a clade closely related to ourmiaviruses but distinct from narnaviruses. In addition, database searches revealed that several MOLV4-related sequences are present in the transcriptome shotgun assembly (TSA) library, expressed sequence tag database (ESTdb), whole-genome shotgun (WGS) library, and genomic survey sequences (GSS) libraries of a few other species of eukaryote organisms. Our results show that MOLV4, together with other similar ourmia-like mycoviruses, might represent a virus clade that links the plant ourmiaviruses and fungal narnaviruses and has a wide range of hosts.