A Case Report of Hemiplegic Migraine with Mutation in the ATP1A2 Gene.

Background: Hemiplegic migraine, a less common variant of migraine, is the focus of this paper. Within the scope of this study, we present a case of hemiplegic migraine that bears the potential for misdiagnosis, particularly as encephalitis. Brief introduction to the Disease: The patient developed a right-sided headache a day prior to admission, accompanied by fever, nausea, vomiting, and left-sided limb weakness. On the fourth day, the patient experienced a grand mal epilepsy, marked by unconsciousness, leftward deviation of both eyes, limb convulsions, and foaming at the mouth. Cerebrospinal fluid analysis revealed no apparent abnormalities, Electroencephalography showed abnormal slow waves, imaging studies indicated swelling and meningeal thickening in the right cortex, and genetic testing identified a heterozygous mutation in the ATPIA2 gene. The diagnosis was hemiplegic migraine, and the patient received symptomatic supportive treatment, leading to improvement and subsequent discharge. Flunarizine and sodium valproate were prescribed post-discharge, and the patient achieved complete recovery after a one-month follow-up. Conclusion: Apart from experiencing headaches, patients with hemiplegic migraine may exhibit additional symptoms like fever, epilepsy, and hemiplegia. These manifestations warrant clinical attention, and if deemed necessary, genetic testing should be conducted, and this is an autosomal dominant pattern.

Unexpected Death of a Sickle Cell Disease Patient: A Case Report and Literature Review.

Sickle cell disease (SCD) is an autosomal recessive genetic disorder characterized by the abnormal formation of sickle hemoglobin (HbS). Under conditions of deoxygenation, HbS undergoes polymerization, resulting in microvascular occlusion, tissue hypoxia, and infarction. The elevated mortality rate associated with SCD is primarily attributed to complications such as sepsis, acute chest syndrome, stroke, acute multiorgan failure, and pulmonary hypertension. Despite advancements in awareness and treatments, preventing mortality in young individuals with SCD remains a formidable challenge. In an effort to shed light on these challenges, we present a case of unexpected death associated with SCD to emphasize the pressing need for continued research and intervention strategies to improve patient outcomes.

Embryonic Exposure to Organophosphate Flame Retardants (OPFRs) Differentially Induces Cardiotoxicity in Rare Minnow (Gobiocypris rarus).

Organophosphorus flame retardants (OPFRs) such as triphenyl phosphate (TPHP) and tris(1,3-dichloro-2-propyl) phosphate (TDCIPP) were reported to impair cardiac function in fish. However, limited information is available regarding their cardiotoxic mechanisms. Using rare minnow (Gobiocypris rarus) as a model, we found that both TPHP and TDCIPP exposures decreased heart rate at 96 h postfertilization (hpf) in embryos. Atropine (an mAChR antagonist) can significantly attenuate the bradycardia caused by TPHP, but only marginally attenuated in TDCIPP treatment, suggesting that TDCIPP-induced bradycardia is independent of mAChR. Unlike TDCIPP, although TPHP-induced bradycardia could be reversed by transferring larvae to a clean medium, the inhibitory effect of AChE activity persisted compared to 96 hpf, indicating the existence of other bradycardia regulatory mechanisms. Transcriptome profiling revealed cardiotoxicity-related pathways in treatments at 24 and 72 hpf in embryos/larvae. Similar transcriptional alterations were also confirmed in the hearts of adult fish. Further studies verified that TPHP and TDCIPP can interfere with Na+/Ca2+ transport and lead to disorders of cardiac excitation-contraction coupling in larvae. Our findings provide useful clues for unveiling the differential cardiotoxic mechanisms of OPFRs and identifying abnormal Na+/Ca2+ transport as one of a select few known factors sufficient to impair fish cardiac function.

Two heat shock cognate 70 genes involved in spermatogenesis regulate the male fertility of Zeugodacus cucurbitae, as potential targets for pest control.

The melon fly Zeugodacus cucurbitae Coquillett (Diptera: Tephritidae) is an agricultural quarantine pest threatening fruit and vegetable production. Heat shock cognate 70 (Hsc70), which is a homolog of the heat shock protein 70 (Hsp70), was first discovered in mice testes and plays an important role in spermatogenesis. In this study, we identified and cloned five Hsc70 genes from melon fly, namely ZcHsc70_1/2/3/4/5. Phylogenetic analysis showed that these proteins are closely related to Hsc70s from other Diptera insects. Spatiotemporal expression analysis showed that ZcHsc70_1 and ZcHsc70_2 are highly expressed in Z. cucurbitae testes. Fluorescence in situ hybridization further demonstrated that ZcHsc70_1 and ZcHsc70_2 are expressed in the transformation and maturation regions of testes, respectively. Moreover, RNA interference-based suppression of ZcHsc70_1 or ZcHsc70_2 resulted in a significant decrease of 74.61% and 63.28% in egg hatchability, respectively. Suppression of ZcHsc70_1 expression delayed the transformation of sperm cells to mature sperms. Meanwhile, suppression of ZcHsc70_2 expression decreased both sperm cells and mature sperms by inhibiting the meiosis of spermatocytes. Our findings show that ZcHsc70_1/2 regulates spermatogenesis and further affects the male fertility in the melon fly, showing potential as targets for pest control in sterile insect technique by genetic manipulation of males.

Isolated Intramedullary Thoracic Spinal Sarcoidosis: A Case Report and Review of the Literature.

Sarcoidosis is a multisystemic inflammatory granulomatosis disease that rarely involves the central nervous system (CNS) and is even more so rarely isolated to the intramedullary thoracic spine. In isolated CNS sarcoidosis cases, surgical treatment is debated. We present here a case report and literature review on intramedullary thoracic spine sarcoidosis to evaluate potential portents of spine involvement and indications for surgical intervention. A 47-year-old female with a prior history of renal cell carcinoma presented with a week-long history of urinary retention and bilateral lower extremity numbness, and a 24-hour history of left lower extremity (LLE) weakness with saddle anesthesia. Magnetic resonance imaging demonstrated a syrinx spanning the spinal cord to the conus medullaris and a contrast-enhancing, expansile intramedullary thoracic lesion at T6-T7 with a non-enhancing, cystic right paraspinal lesion at T5. Given the patient's history of a kidney neoplasm, a metastatic work-up was completed. Biopsy of the T5 lesion was consistent with endometriosis. The patient underwent a T6-8 laminectomy with excisional biopsy and gross total resection of the intramedullary mass. Initial pathology was notable for lymphohistiocytic infiltrate with coagulative necrosis and rare multinucleated giant cells. At the one-month follow-up, the patient had improving LLE weakness and continued impairment of gait, balance, and coordination, but her symptoms of urinary retention, paresthesia, and numbness were resolved. Final pathology supported a diagnosis of sarcoidosis. At the three-month follow-up, the patient reported intermittent surgical site pain, but no other symptoms. She is followed up by her primary care consultant for symptom management and recurrence monitoring. Apart from the presented case, only one case of isolated intramedullary thoracic spine sarcoidosis was identified in the literature. The only case, of both review and presented, without significant symptom improvement did not undergo surgery. The available literature is limited; however, early surgical intervention may be indicated in isolated thoracic spine sarcoidosis.

Spontaneous pseudoaneurysm of the superficial temporal artery in neurofibromatosis type 1: illustrative case.

BACKGROUND: A pseudoaneurysm of the superficial temporal artery is an uncommon clinical entity that has largely been linked with direct traumatic causes. Neurofibromatosis type 1 (NF1)-related vasculopathy is a rare cause of idiopathic arterial bleeding in the craniofacial region. OBSERVATIONS: A 46-year-old male with clinical features of NF1 presented to the hospital with an enlarging and tender right temporal mass without a history of trauma. Computed tomography angiography suggested the development of a pseudoaneurysm, and surgery was performed to resect the mass. Histopathological examinations showed focal interruption of the epithelium layer and elastic lamina, well-demarcated thickening of the smooth muscle layers of the arterial wall, supporting the diagnosis of pseudoaneurysm. LESSONS: NF1-associated vasculopathy is likely the predisposing factor for the development of a superficial temporal artery pseudoaneurysm.

Ring-Enhancing Progressive Multifocal Leukoencephalopathy Mimicking Glioma in a Presumed Immunocompetent Patient With a History of Multiple Sclerosis: A Case Report and Review of the Literature.

The differential diagnoses of ring-enhancing lesions of the brain parenchyma is broad, but complete ring-enhancing lesions often indicate a neoplastic or infectious process. We present a case of a 70-year-old female with a history of multiple sclerosis (MS) who was not on current disease-modifying therapy (DMT) and was found to have a ring-enhancing lesion that mimicked a high-grade glioma. The patient underwent gross total resection, and histopathologic and molecular analysis revealed a diagnosis of progressive multifocal leukoencephalopathy (PML). A subsequent medical workup on the patient was unrevealing aside from mild lymphopenia. This is a unique case that highlights both an unusual clinical presentation and radiographic appearance of PML. There is a known associated increased risk of PML with the use of some DMTs for MS. However, this case raises the question of the possibility of developing PML years after interferon beta-1a therapy in a patient without overt immunosuppression.

Metagenomic analysis reveals hidden links between gut microbes and habitat adaptation among cave and surface dwelling Sinocyclocheilus species.

Intestinal microbes are closely related to vital host functions such as digestion and nutrient absorption, which play important roles in enhancing host adaptability. As a natural "laboratory", caves provide an outstanding model for understanding the significance of gut microbes and feeding habits in the habitat adaptability of hosts. However, research on the relationship between gut microbes, feeding habits, and the adaptability of troglobites remains insufficient. In this study, we compared the characteristics of the intestinal microbes of Sinocyclocheilus cavefish and surface fish and further established the relationship between intestinal and habitat microbes. Furthermore, we conducted environmental DNA (eDNA) (metabarcoding) analysis of environmental samples to clarify the composition of potential food resources in the habitats of the Sinocyclocheilus cavefish and surface fish. Results showed that the structure of the Sinocyclocheilus gut microbes was more related to ecological type (habitat type) than phylogenetic relationships. While horizontal transfer of habitat microbes was a source of gut microbes, hosts also showed strong selection for inherent microbes as dominant microorganisms. Differences in the composition and structure of gut microbes, especially dominant microbes, may enhance the adaptability of the two Sinocyclocheilus fish types from the perspectives of food intake, nutrient utilization, and harmful substance metabolism, suggesting that food resources, predation patterns, intestinal flora, digestive and absorptive capacity, and feeding habits and preferences are linked to habitat adaptability. These results should facilitate our understanding of the significance of fish gut microbes to habitat adaptation and provide a new perspective for studying the adaptive mechanisms of cavefish.

Exercise preconditioning attenuates cerebral ischemia-induced neuronal apoptosis, Th17/Treg imbalance, and inflammation in rats by inhibiting the JAK2/STAT3 pathway.

BACKGROUND: Exercise preconditioning (EP) is essential for preventing ischemic stroke. Recent studies have shown that EP exerts neuroprotective effects in the cerebral ischemia-reperfusion injury model. Nonetheless, there have been few reports on the relationship between EP and the Th17/Treg balance. Moreover, it is unclear whether the JAK2/STAT3 pathway is responsible for the neuroprotective effect of EP. Therefore, we aimed to explore the impact of EP, other than the anti-inflammatory and antiapoptotic functions, on the Th17/Treg balance via the JAK2/STAT3 pathway in a middle cerebral artery occlusion (MCAO)-induced model. RESULTS: Fifty rats were randomly allocated into five groups, including the sham group (n = 10), EP+sham group (n = 10), MCAO group (n = 10), EP+MCAO group (n = 10), and EP+MCAO+JAK2/STAT3 pathway agonist (coumermycin A1, CA1) group (n = 10). The results indicated that EP alleviated neurological deficits, reduced infarct volume, and ameliorated neuronal apoptosis induced by MCAO. Additionally, the MCAO-induced Th17/Treg imbalance could be rectified by EP. The decreased levels of IL-10 and Foxp3 and increased IL-17 and RORα in the MCAO group were reversed by EP treatment. Regarding inflammation, EP reduced the concentrations of IL-6 and IL-17 and elevated those of IL-10 and TGF-ß. The neuroprotective effects of EP were accompanied by decreased phosphorylation of JAK2 and STAT3. Furthermore, CA1 pretreatment diminished all the beneficial effects of EP partially. CONCLUSION: Our findings suggest that EP contributes to attenuating neuronal apoptosis, Th17/Treg imbalance, and inflammation induced by MCAO via inhibiting the JAK2/STAT3 pathway, indicating its therapeutic potential in ischemic stroke.

Recombinant Klotho attenuates IFNγ receptor signaling and SAMHD1 expression through blocking NF-κB translocation in glomerular mesangial cells.

Interferon gamma (IFNγ) is a cytokine implicated in the pathogenesis of autoimmune diseases. SAM and HD domain-containing protein 1 (SAMHD1) is an IFNγ-inducible protein that modulates cellular dNTP levels. Mutations in the human SAMHD1 gene cause Aicardi-Goutières (AG) syndrome, an autoimmune disease sharing similar clinical features with systemic lupus erythematosus (SLE). Klotho is an anti-inflammatory protein which suppresses aging through multiple mechanisms. Implication of Klotho in autoimmune response is identified in rheumatologic diseases such as SLE. Little information exists regarding the effect of Klotho in lupus nephritis, one of the prevalent symptoms of SLE. The present study verified the effect of IFNγ on SAMHD1 and Klotho expression in MES-13 glomerular mesangial cells, a special cell type in glomerulus that is critically involved in lupus nephritis. IFNγ upregulated SAMHD1 expression in MES-13 cells through the Janus kinase-signal transducer and activator of transcription 1 (JAK-STAT1) and the nuclear factor kappa B (NFκB) signaling pathways. IFNγ decreased Klotho protein expression in MES-13 cells. Treatment of MES-13 cells with recombinant Klotho protein inhibited SAMHD1 expression by blocking IFNγ-induced NFκB nuclear translocation, but showed no effect on JAK-STAT1 signaling. Collectively, our findings support the protective role of Klotho in attenuating lupus nephritis through the inhibition of IFNγ-induced SAMHD1 expression and IFNγ downstream signaling in MES-13 cells.

Associations of Parity With Change in Global Cognition and Incident Cognitive Impairment in Older Women.

Background: The evidence of the association between parity and risk of mild cognitive impairment (MCI) or dementia is mixed, and the relationship between parity and longitudinal cognitive changes is less clear. We investigated these issues in a large population of older women who were carefully monitored for development of MCI and probable dementia. Methods: Using the Women's Health Initiative Memory Study, 7,100 postmenopausal women (mean age 70.1 ± 3.8 years) with information on baseline parity (defined as the number of term pregnancies), measures of global cognition (Modified Mini-Mental State Examination score) from 1996-2007, and cognitive impairment (centrally adjudicated diagnoses of MCI and dementia) from 1996-2016 were included. Multivariable linear mixed-effects models were used to analyze the rate of changes in global cognition. Cox regression models were used to evaluate the risk of MCI/dementia across parity groups. Results: Over an average of 10.5 years, 465 new cases of MCI/dementia were identified. Compared with nulliparous women, those with a parity of 1-3 and ≥4 had a lower MCI/dementia risk. The HRs were 0.75 (0.56-0.99) and 0.71 (0.53-0.96), respectively (P < 0.01). Similarly, a parity of 1-3 and ≥4 was related to slower cognitive decline (ß = 0.164, 0.292, respectively, P < 0.05). Conclusion: Higher parity attenuated the future risk for MCI/dementia and slowed the rates of cognitive decline in elderly women. Future studies are needed to determine how parity affects late-life cognitive function in women.

Lateral Ventricle Solitary Fibrous Tumor: A Case Report and Review of the Literature.

Solitary fibrous tumors (SFTs) are rare tumors thought to be of mesenchymal origin. Even though intracranial, especially intraventricular, SFTs are rare, this diagnosis should be considered in the differential for intraventricular lesions. Here, report the case of a female in her 60s who underwent a non-contrast-enhanced magnetic resonance imaging scan of the brain for new-onset memory issues and headache which revealed a well-circumscribed intraventricular lesion in the right lateral ventricle with vasogenic edema, trapping of the temporal horn, and subfalcine herniation. She was admitted and started on dexamethasone prior to surgical treatment of the tumor. A right-sided superior parietal lobule approach was utilized to reach and resect the lesion. Histopathology was consistent with World Health Organization grade I SFT. Only 10 other cases of lateral ventricular SFTs have been reported in the literature. Intraventricular SFT is a rare diagnosis, and, as such, the literature on this topic mostly consists of case reports. Although the lesion is benign, metastases have been reported, and thus, gross total resection remains the standard of care. This case adds to the paucity of SFTs reported in the literature.

Functional characterization of four Hsp70 genes involved in high-temperature tolerance in Aphis aurantii (Hemiptera: Aphididae).

The tea aphid, Aphis aurantii (Boyer de Fonscolombe), is a serious pest that can infest many economically important plants. Tea aphids damage plants by directly sucking phloem sap, transmitting viruses, and secreting honeydew to cause sooty mold. At present, tea aphids has become one of the most important pests in tropical and subtropical tea plants. The heat shock protein 70 (Hsp70) is a key protein involved in heat stress tolerance. In this study, we cloned four Hsp70 genes that are highly expressed in tea aphids after heat shock. Bioinformatic analysis of the deduced amino acid sequences showed that these four AaHsp70s had a close genetic relationship to Hsp70 in Hemiptera insects and shared a conserved ATPase domain. After incubation at low (14 °C) or high (36 °C) temperature, the expression of four AaHsp70s was significantly up-regulated compared to the control (25 °C); however, the up-regulation of the AaHsp70s in the low-temperature treatment was far less than that of the high-temperature treatment. The ATPase activity of the four purified recombinant AaHsp70 proteins after high-temperature treatment was significantly increased compared to the control. In addition, these proteins effectively improved the heat tolerance of Escherichia coli in vivo. Our data indicate that AaHsp701, AaHsp702, AaHsp703, AaHsp704 play important roles in response to the high-temperature tolerance in tea aphids.

Facile Synthesis of Carbon- and Nitrogen-Doped Iron Borate as a Highly Efficient Single-Component Heterogeneous Photo-Fenton Catalyst under Simulated Solar Irradiation.

The development of a heterogeneous catalyst for use in environmental remediation remains a challenging and attractive research endeavor. Specifically, for Fenton reactions, most research approaches have focused on the preparation of iron-containing heterostructures as photo-Fenton catalysts that utilize visible light for enhancing the degradation efficiency. Herein, the synthesis and novel application of C,N-doped iron borates are demonstrated as single-component heterogeneous photo-Fenton catalysts with high Fenton activity under visible light. Under the optimal conditions, 10 mg of the catalyst is shown to achieve effective degradation of 10 ppm methylene blue (MB) dye, Rhodamine B (RhB) dye, and tetracycline (TC) under simulated solar irradiation with a first-order rate constant of k = 0.218 min-1, 0.177 min-1, and 0.116 min-1, respectively. Using MB as a model system, the C,N-doped iron borate exhibits 10- and 26-fold increases in catalytic activity relative to that of the 50 nm hematite nanoparticles and that of the non-doped iron borate, respectively, in the presence of H2O2 under the simulated solar irradiation. Furthermore, the optimum reaction conditions used only 320 equivalents of H2O2 with respect to the concentration of dye, rather than the several thousand equivalents of H2O2 used in conventional heterogeneous Fenton catalysts. In addition, the as-prepared C,N-doped iron borate achieves 75% MB degradation after 20 min in the dark, thus enabling the continuous degradation of pollutants at night and in areas with poor light exposure. The stability and recyclability of C,N-doped iron borate for the oxidation of MB was demonstrated over three cycles with insignificant loss in photo-Fenton activity. The high Fenton activity of the C,N-doped iron borate is considered to be due to the synergistic action between the negatively-charged borate ligands and the metal center in promoting the Fenton reaction. Moreover, carbon and nitrogen doping are shown to be critical in modifying the electronic structure and increasing the conductivity of the catalyst. In view of its synthetic simplicity, high efficiency, low cost of reagents, and minimal cost of operation (driven by natural sunlight), the as-prepared heterogeneous single-component metal borate catalyst has potential application in the industrial treatment of wastewater.

A stretchable and strain-unperturbed pressure sensor for motion interference-free tactile monitoring on skins.

A stretchable pressure sensor is a necessary tool for perceiving physical interactions that take place on soft/deformable skins present in human bodies, prosthetic limbs, or soft robots. However, all existing types of stretchable pressure sensors have an inherent limitation, which is the interference of stretching with pressure sensing accuracy. Here, we present a design for a highly stretchable and highly sensitive pressure sensor that can provide unaltered sensing performance under stretching, which is realized through the synergistic creations of an ionic capacitive sensing mechanism and a mechanically hierarchical microstructure. Via this optimized structure, our sensor exhibits 98% strain insensitivity up to 50% strain and a low pressure detection limit of 0.2 Pa. With the capability to provide all the desired characteristics for quantitative pressure sensing on a deformable surface, this sensor has been used to realize the accurate sensation of physical interactions on human or soft robotic skin.

Lumbar Ganglioneuroma Presenting With Scoliosis.

Ganglioneuromas are rare, benign tumors arising from the sympathetic nervous system. The presentation of the tumor is variable and may be associated with scoliosis. Few reports of ganglioneuroma associated with scoliosis- exist and most involve the thoracic spine. Here, we present a 13-year-old female with scoliosis who was found to have a lumbar ganglioneuroma. The patient was treated with a subtotal resection and lumbar spinal fusion to correct her scoliosis in a single-stage operation. The patient's symptoms and scoliosis markedly improved following treatment without any complications. Additionally, we conducted an up-to-date literature review of ganglioneuromas associated with scoliosis that have been published in the last 20 years. We discuss variations in clinical presentation and surgical approach.

miR-221 Exerts Neuroprotective Effects in Ischemic Stroke by Inhibiting the Proinflammatory Response.

BACKGROUND: Ischemic stroke is clearly affected by microRNAs (miRNAs) due to dysfunction of their regulatory networks. Our clinical data confirmed decreased miR-221 levels in plasma collected from patients with acute ischemia compared with plasma from healthy controls. Therefore, we further aimed to demonstrate the regulatory mechanisms by which miR-221 exerts its neuroprotective effects in acute ischemic brain injury. METHODS: Middle cerebral artery occlusion (MCAO) was used to establish focal cerebral ischemia in adult male C57BL/6 mice. A miR-221 mimic or a negative mimic control was injected by intracerebroventricular administration 24 h prior to MCAO. After 48 h, cerebral infarction volume and neurological scores were calculated, and to determine the extent of neuroprotection by miR-221, neurobehavioral tests were performed. Quantitative real-time PCR, ELISA, and flow cytometry were also performed to identify the expression of inflammation-related cytokines and chemokines as well as infiltration/activation of various immune cells in the brain. RESULTS: The results showed that MCAO mice treated with a miR-221 mimic exhibited significantly decreased cerebral infarction volume and increased amelioration of behavioral deficits. Moreover, the expression of proinflammatory cytokines (TNF-α, MCP-1, VCAM-1, and IL-6) and chemokines (CCL2 and CCL3) was significantly decreased in the miR-221 mimic-treated group. In addition, the flow cytometry data showed that macrophage infiltration and microglial activation were blocked by miR-221 treatment. CONCLUSION: our results indicate that miR-221 could decrease brain damage in the setting of acute ischemic stroke by inhibiting the proinflammatory response, which furthered our understanding of the molecular basis of miR-221 and provided a new potential therapeutic target for the treatment of ischemic stroke .

SMARCB1 Gene Mutation Predisposes to Earlier Development of Glioblastoma: A Case Report of Familial GBM.

Glioblastoma (GBM) is the most aggressive adult brain tumor. While GBM typically occurs sporadically, familial GBM can be associated with certain hereditary disorders and isolated familial GBMs in the absence of syndrome are rare. Relevant hereditary factors have remained elusive in these cases. Understanding specific genetic abnormality may potentially lead to better treatment strategies in these patients. Here, we analyzed GBM tissue from our patient and 2 afflicted family members, with next generation sequencing to better understand the genetic alterations associated with this disease development. DNA was extracted and sequenced and the data were then analyzed. Results revealed 2 common mutations in afflicted family members; PDGFRA and HRAS. In addition, both siblings showed a mutation of the SMARCB1 gene. The sister of our patient exhibited a homozygous mutation, while our patient had heterozygous mutation of this gene in the tumor tissue. This result suggests that mutation of SMARCB1, either alone or in the presence of PDGFRA and HRAS mutations, is associated with earlier onset GBM.