Visual function loss in fungal sphenoid sinusitis: clinical characteristics and outcomes.

Potentially fatal fungal sphenoid sinusitis (FSS) causes visual damage. However, few studies have reported on its visual impairment and prognosis. Five hundred and eleven FSS patients with ocular complications treated at Beijing Tongren Hospital were recruited and clinical features and visual outcomes were determined. Thirty-two of the 511 patients (6%) had visual impairment, with 13 and 19 patients having invasive and noninvasive FSS, respectively. Eighteen patients (56.25%) had diabetes and 2 patient (6.25%) had long-term systemic use of antibiotics (n = 1) and corticosteroids (n = 1). All patients had visual impairment, which was more severe in invasive FSS than in noninvasive FSS. Bony wall defects and sclerosis were observed in 19 patients (59.38%), and 11 patients (34.38%) had microcalcification in their sphenoid sinusitis on computed tomography (CT). After a 5-year follow-up, three patients (9.38%) died. Patients with noninvasive FSS had a higher improvement rate in visual acuity than their counterparts. In the multivariate analysis, sphenoid sinus wall sclerosis on CT was associated with better visual prognosis. FSS can cause vision loss with persistent headaches, particularly in those with diabetes. CT showed the sphenoid sinus wall sclerosis, indicating a better visual prognosis in FSS with visual impairment.

Rhizoma Dioscoreae Nipponicae Relieves Asthma by Inducing the Ferroptosis of Eosinophils and Inhibiting the p38 MAPK Signaling Pathway.

Rhizoma Dioscoreae Nipponicae (RDN) is a traditional Chinese medicine that widely applied in the treatment of human diseases. This study aims to explore the therapeutic potential of RDN in asthma and the underlying mechanisms. A mouse model of asthma was established by the stimulation of ovalbumin (OVA). HE staining was performed to detect the pathological injuries of tracheal tissues. The protein expression of collagen I, FN1, α-SMA (airway remodeling markers), and p-p38 (a marker of the p38 MAPK pathway) were detected by Western blot. Eosinophils were then isolated from the model mice. Cell viability and ROS level were measured by CCK-8 and Flow cytometry, respectively. The mRNA expression of GPX4 and ACSL4 (ferroptosis markers) in eosinophils were measured by qRT-PCR. RDN significantly reduced the numbers of total cells and eosnophils in bronchoalveolar lavage fluid (BALF), inhibited inflammatory cell infiltration, and down-regulated remodeling markers (Collagen I, FN1, and α-SMA) in OVA-induced mice. The p38 MAPK pathway was blocked by the intervention of RDN in the model mice, and its blocking weakens the poor manifestations of OVA-induced asthma. In addition, RDN induced the ferroptosis of eosnophils both in vitro and in vivo. Blocking of the p38 MAPK pathway also enhanced the ferroptosis of eosnophils in vitro, evidenced by the decreased cell viability and GPX4 expression, and increased ROS level and ACSL4 expression. RDN induced the ferroptosis of eosinophils through inhibiting the p38 MAPK pathway, contributing to the remission of asthma.

Bilateral optic atrophy in Wilson disease: A case report and literature review.

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The clinical manifestations of WD are complex and variable, with Kayser-Fleischer ring (K-F ring) and the sunflower cataract being the most common ocular findings. Visual impairment is rare in patients with WD. We report the case of a 17-year-old female with bilateral optic atrophy associated with WD and summarize the clinical features of previously reported cases of optic neuropathy in WD, Clinicians should be aware that WD is a rare cause of optic neuropathy and that optic neuropathy in patients with WD may need to be recognized and screened.

In Vivo Corneal Confocal Microscopy for Detecting Corneal Nerve Fiber Changes in Patients with Different Types of Optic Neuritis: A Cross-Sectional Study.

PURPOSE: Optic neuritis (ON), a demyelinating disease of the central nervous system, is often a precursor manifestation of neuromyelitis optica spectrum disorders (NMOSD) or multiple sclerosis (MS). Reduced corneal nerve fiber counts have been found in patients with NMOSD or MS. This study aimed to observe and compare the corneal subbasal nerve plexus in patients with three types of ON and controls without ON using in vivo corneal confocal microscopy (IVCM). METHODS: Data were analyzed for 77 eyes of 48 patients with ON, grouped according to seropositivity for anti-aquaporin-4 IgG, myelin oligodendrocyte glycoprotein antibody, or no seropositivity, and 35 healthy eyes in the control group. Corneal parameters were quantified based on IVCM images. Visual function indicators were recorded, following which their correlations with IVCM parameters were analyzed. RESULTS: Significant differences in IVCM parameters were detected among the different groups. Reductions in corneal nerve fiber counts were negatively correlated with visual acuity. Corneal nerve fibers were significantly more damaged in the affected eye than in the unaffected eye in patients with ON. CONCLUSION: IVCM revealed corneal nerve fiber loss of varying degrees, depending on the type of ON. This indicates that, although ON primarily affects the central nervous system, peripheral nerves, such as the trigeminal nerve, which innervates the corneal subbasal nerve plexus may also be damaged in affected patients.

Bilateral retrobulbar optic neuritis combined with optic perineuritis associated with atezolizumab treatment for small cell lung carcinoma.

INTRODUCTION: Ocular immune-related adverse events (OirAEs) associated with novel cancer therapies of immune checkpoint inhibitors (ICIs) are emerging. Retrobulbar optic neuritis (ON) combined with optic perineuritis (OPN), associated with atezolizumab, has been rarely reported and has a unique clinical manifestation. CASE DESCRIPTION: A 67-year-old woman was diagnosed with small-cell lung cancer. As maintenance therapy, atezolizumab was administered continuously for 10 cycles for approximately 14 months. One week after the administration of the tenth dose of atezolizumab, the patient experienced a bilateral, successive painless visual decline. The fundus and the retinal nerve fiber layer revealed no abnormalities, but the ganglion cell of the macula disappeared loss. The concentric shrinking of the peripheral visual field of the left eye was noticed. Orbital MRI revealed bilateral optic nerve thickening and peripheral optic nerve sheath enhancement ("tram-track" and "doughnut" signs). Serology, cerebrospinal fluid results, and image examination ruled out common causes of vision decline, and the condition was identified as bilateral retrobulbar ON combined with OPN as a probable atezolizumab-related immune adverse event. Thereafter, atezolizumab was discontinued, and intravenous methylprednisolone pulse (IVMP) (160 mg/day for 5 days) plus intravenous immunoglobulin (20 g/day for 3 days) was administered. The patient's visual function considerably improved after three weeks. CONCLUSIONS: Retrobulbar ON and OPN associated with atezolizumab are rare side effects that are easily overlooked. Immune-related ON has unique features and requires early identification. The primary treatment for optic nerve irAEs is corticosteroids, but this is not standardized and should be used with caution.

Foveal hypoplasia in a Chinese adolescent with 48, XXYY syndrome.

BACKGROUND: 48, XXYY syndrome is a rare sex chromosome aneuploidy with severe systemic features. Ophthalmic manifestation of 48, XXYY syndrome include hypertelorism, epicanthic folds, hooded eye lids, strabismus, retinitis pigmentosa and Duane's syndrome. CASE: We present mild foveal hypoplasia in a 12-year-old boy with 48, XXYY syndrome using swept-source optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). The boy was referred for assessment of strabismus and poor visual acuity. OCT revealed persistence of inner retinal layers, and thinning of the outer nuclear layer in the perifoveal region with thickening of the outer plexiform layer. OCTA revealed increased vessel density with reduced foveal avascular zone. CONCLUSION: We described novel OCT and OCTA features of bilateral foveal hypoplasia and reduction of FAZ in a case of 48, XXYY syndrome based on detailed clinical observation and thorough genetic testing. This case expanded the current literature of this rare sex chromosome abnormality and suggest the importance of retinal examinations in 48, XXYY syndrome.

N6-methyladenosine modification of REG1α facilitates colorectal cancer progression via ß-catenin/MYC/LDHA axis mediated glycolytic reprogramming.

Aerobic glycolysis has been considered as a hallmark of colorectal cancer (CRC). However, the potential functional regulators of glycolysis in CRC remains to be elucidated. In the current study, we found that Regenerating islet-derived protein 1-alpha (REG1α) was significantly increased in both CRC tissues and serum, and positively associated with CRC patients' lymph node metastasis, advanced tumor stage, and unfavorable prognosis. Ectopic expression of REG1α contributed to various tumorigenic properties, including cell proliferation, cell cycle, migration, invasion, and glycolysis. In contrast, REG1α deficiency in CRC cells attenuated malignant properties and glucose metabolism. Mechanically, REG1α promoted CRC proliferation and metastasis via ß-catenin/MYC axis-mediated glycolysis upregulation. Moreover, the malignant behaviors governed by REG1α could be effectively abolished by silencing of Wnt/ß-catenin/MYC axis or glycolysis process using specific inhibitors. Besides, REG1α expression was mediated by METTL3 in an m6A-dependent manner. Overall, our work defines a novel regulatory model of the METTL3/REG1α/ß-catenin/MYC axis in CRC, which indicates that REG1α could function as a novel biomarker and a potential therapeutic target for patients with CRC.

Exploring the therapeutic mechanisms of Sijunzi decoction in the treatment of sarcopenia: Key targets and signaling pathways.

Sarcopenia, an age-associated condition, negatively impacts the quality of life. This study investigates the mechanism of Sijunzi decoction (SJZD), a traditional Chinese formula, against sarcopenia. Active compounds and potential targets of SJZD for sarcopenia were gathered from databases. Hub targets were identified using protein-protein interaction networks, with GO and KEGG analyses suggesting potential pathways. Molecular docking was used to assess compound-target affinity. A lipopolysaccharide-induced sarcopenia rat model was used to verify the targets. Sijunzi decoction contains 92 compounds and 47 targets for sarcopenia. The top 10 hub targets comprise AKT1, ALB, INS, IL6, TNF, TP53, VEGFA, SIRT1, CAT and FOS. GO and KEGG analyses indicate involvement in steroid hormone response, vesicle lumen, receptor agonist activity, and FoxO and HIF-1 signaling pathways. Validation experiments showed that SJZD alleviates sarcopenia by downregulating SIRT1, IL-6, TNF and AKT1. Sijunzi decoction treats sarcopenia by targeting SIRT1, IL-6, TNF and AKT1, potentially involving FoxO and HIF-1 signaling pathways. This highlights SJZD's potential for sarcopenia treatment.

Clinical and Pathological Features of Primary Orbital Liposarcoma in Chinese Patients.

PURPOSE: Liposarcomas are rare in the orbit. We analyzed a series of primary liposarcomas to determine the features unique to the orbit. METHODS: Records from 10 Chinese patients treated for primary orbital liposarcoma at Beijing Tongren Hospital, Capital Medical University, between September 2009 and September 2020 were reviewed. RESULTS: This cohort included four men and six women with age of onset ranging from 18 to 80 years. The pathology was myxoid liposarcoma in five patients, dedifferentiated liposarcoma in two patients, well-differentiated liposarcoma and pleomorphic liposarcoma in one patient each, and dedifferentiated liposarcoma and well-differentiated liposarcoma co-existing in one case. Magnetic resonance imaging (MRI) revealed a well-defined, irregular, or lobulated mass in the orbit, which contained components that were suppressible in the fat-suppression sequence, as well as components that were enhanced by gadolinium enhancement. Nine patients relapsed after surgery, with a mean recurrence of 2.44, and one patient was lost to follow-up. The interval between treatment and first recurrence ranged from 4 months to 16 years; 55.6% of patients with orbital liposarcoma relapsed within one year. Three patients underwent local excision alone, four patients underwent excision combined with radiotherapy, and three patients underwent exenteration. Half of the patients were misdiagnosed in the pathologic diagnosis after their first or multiple surgeries. No distant metastasis, death from tumors, or invasion of adjacent organs was observed after 21-150 months of follow-up. CONCLUSION: Orbital liposarcoma is easily misdiagnosed and prone to recurrence; however, MRI findings may help identify orbital liposarcoma prior to surgery. The optimal treatment choice remains to be discussed.

Use of the Acellular Dermal Matrix (ADM) to Reconstruct Full-thickness Eyelid Defects.

This study aimed to introduce the use of an acellular dermal matrix (ADM) as a posterior lamellar substitution for full-thickness eyelid reconstruction after malignant tumor excision. After resection of the malignant eyelid tumors, anterior lamellar defects were repaired using direct sutures and pedicled flaps in 20 patients (15 men and 5 women). ADM was used to replace the tarsal plate and the conjunctiva. All patients were followed up for 6 months or more to assess the functional and esthetic outcomes of the procedure. The flaps survived in all but 2 cases, wherein they necrosed due to insufficient blood supply. The functionality and esthetic outcomes were excellent in 10 and 9 patients, respectively. There were no changes in visual acuity or corneal epithelial damage after the surgery. The eyeball movement was good. Corneal irritation no longer appeared, and patient comfort was maintained. Furthermore, no tumor recurrence occurred in any patient. ADM is a valuable posterior lamellar material for the full-thickness reconstruction of eyelid defects after the resection of malignant tumors on the eyelids.

Clinical analysis of 2790 children with retinoblastoma: a single-center experience in China.

BACKGROUND: In this study, we aimed to analyze the clinical characteristics and prognosis of children with retinoblastoma (RB) in a single center in China with a large sample collection spanning 17 years. METHODS: The clinical data of 2790 children with RB treated in Beijing Tongren Hospital from 2005 to 2021 were collected, and a retrospective analysis was conducted. RESULTS: The median age of the participants was 28.3 months. There were 3624 affected eyes, 12.4% of which were in groups A-C, 67.1% in groups D-E and 16.2% were not specified. The primary symptom observed in most cases was a white pupil, accounting for 66.5%, followed by strabismus (12.8%). The median follow-up time was 59.7 months. The enucleation rate was 71.3% (703/986) in a single left eye and 72.5% (702/968) in a single right eye. The overall survival (OS) rate was 95.8% (2444/2552) because 237 patients dropped out, and 109 died. Kaplan‒Meier survival analysis showed that the median survival time (MST) was 125.92 months [95% confidence interval (CI) = 124.83-127.01]. Cox multivariate survival analysis showed that trilateral RB (P = 0.017), metastasis site (P = 0.001), and combined distant tissue metastasis (P = 0.001) were independent prognostic factors for RB. The OS of 44 cases of familial RB was 93.2% (41/44), with an MST of 80.62 months (95% CI = 67.70-93.54). CONCLUSIONS: The timing of eye protection treatment and enucleation should be comprehensively judged to avoid worsening prognosis due to operation time delay. More importantly, the promotion and popularization of diagnosis and treatment technologies are necessary to further improve RB prognosis.

Automatic retinoblastoma screening and surveillance using deep learning.

BACKGROUND: Retinoblastoma is the most common intraocular malignancy in childhood. With the advanced management strategy, the globe salvage and overall survival have significantly improved, which proposes subsequent challenges regarding long-term surveillance and offspring screening. This study aimed to apply a deep learning algorithm to reduce the burden of follow-up and offspring screening. METHODS: This cohort study includes retinoblastoma patients who visited Beijing Tongren Hospital from March 2018 to January 2022 for deep learning algorism development. Clinical-suspected and treated retinoblastoma patients from February 2022 to June 2022 were prospectively collected for prospective validation. Images from the posterior pole and peripheral retina were collected, and reference standards were made according to the consensus of the multidisciplinary management team. A deep learning algorithm was trained to identify "normal fundus", "stable retinoblastoma" in which specific treatment is not required, and "active retinoblastoma" in which specific treatment is required. The performance of each classifier included sensitivity, specificity, accuracy, and cost-utility. RESULTS: A total of 36,623 images were included for developing the Deep Learning Assistant for Retinoblastoma Monitoring (DLA-RB) algorithm. In internal fivefold cross-validation, DLA-RB achieved an area under curve (AUC) of 0.998 (95% confidence interval [CI] 0.986-1.000) in distinguishing normal fundus and active retinoblastoma, and 0.940 (95% CI 0.851-0.996) in distinguishing stable and active retinoblastoma. From February 2022 to June 2022, 139 eyes of 103 patients were prospectively collected. In identifying active retinoblastoma tumours from all clinical-suspected patients and active retinoblastoma from all treated retinoblastoma patients, the AUC of DLA-RB reached 0.991 (95% CI 0.970-1.000), and 0.962 (95% CI 0.915-1.000), respectively. The combination between ophthalmologists and DLA-RB significantly improved the accuracy of competent ophthalmologists and residents regarding both binary tasks. Cost-utility analysis revealed DLA-RB-based diagnosis mode is cost-effective in both retinoblastoma diagnosis and active retinoblastoma identification. CONCLUSIONS: DLA-RB achieved high accuracy and sensitivity in identifying active retinoblastoma from the normal and stable retinoblastoma fundus. It can be used to surveil the activity of retinoblastoma during follow-up and screen high-risk offspring. Compared with referral procedures to ophthalmologic centres, DLA-RB-based screening and surveillance is cost-effective and can be incorporated within telemedicine programs. CLINICAL TRIAL REGISTRATION: This study was registered on ClinicalTrials.gov (NCT05308043).

Gut microbiota dysbiosis associated with different types of demyelinating optic neuritis in patients.

BACKGROUND: Demyelinating optic neuritis (DON) causes rapid vision loss in young and middle-aged people. The limited efficacy of treatment and the toxic side effects of drugs significantly affect the quality of life of patients with DON. Therefore, DON pathogenesis has always been a research hotspot in terms of prevention and treatment. Studies have suggested that gut microbiota imbalances may be involved in autoimmune disease development via the modulation of multiple inflammatory cytokines and anti-inflammatory metabolites. Therefore, this study aims to explore gut microbiota differences between healthy controls (HCs) and patients with DON. METHODS: A total of 54 patients with DON and 41 HCs were recruited. Fecal and blood samples were collected before and after intravenous methylprednisolone pulse (IVMP) treatment. The Shannon index, gut microbiota structure, and differential bacteria were evaluated and compared. RESULTS: The Shannon diversity index was decreased in patients with DON (p < 0.001) but was higher after IVMP treatment (p < 0.05). In patients with DON, Blautia, Escherichia-Shigella, and Ruminococcus showed higher abundances, whereas Bacteroides, Faecalibacterium, Roseburia, Parabacteroides, Romboutsia, and Alistipes showed lower abundances compared to that in the HCs. After IVMP treatment, the Shannon index of the myelin oligodendrocyte glycoprotein-immunoglobulin G (+) (MOG-IgG (+)) and both aquaporin-4 (AQP4)-IgG (-) and MOG-IgG (-) groups increased (p < 0.05). Bacteroides was negatively correlated with interleukin (IL)-21, IL-17E, and tumor necrosis factor-α levels (p < 0.05, r = -0.54; p < 0.05, r= -0.50; p < 0.05, r =-0.55, respectively). Escherichia was positively correlated with macrophage inflammatory protein-3α (p < 0.05, r = 0.51). Alistipes was negatively correlated with soluble CD40 ligand (p < 0.05, r = -0.52). CONCLUSION: The gut microbiota differed significantly between patients with DON and HCs; however, IVMP treatment may restore gut microbiota diversity and structure in patients with DON. Moreover, gut microbiota changes may play a role in DON pathogenesis.

Performance of 2D-shear wave elastography in autoimmune hepatitis-primary biliary cholangitis overlap syndrome.

PURPOSE: To evaluate the diagnostic values of liver stiffness (LS) measured by 2D-SWE, fibrosis index based on the four factors (FIB-4), aspartate aminotransferase to platelet ratio index (APRI), and GGT to PLT ratio (GPR) for assessing liver fibrosis and high-risk esophageal varices (EVs) in patients with autoimmune hepatitis-primary biliary cholangitis (AIH-PBC) overlap syndrome. METHODS: Data of 141 patients were retrospectively collected. Liver fibrosis was staged according to the Scheuer scoring system. The Spearman correlation coefficient was used for correlation analysis. Receiver operating characteristic (ROC) curves were plotted to evaluate the diagnostic performance. RESULTS: LS and FIB-4 were positively correlated with the fibrosis stage (r = 0.555 and 0.198, respectively). LS had significantly higher areas under the ROC curves (AUROCs) values than FIB-4 for predicting advanced fibrosis (0.818 vs. 0.567, P < 0.001), cirrhosis (0.879 vs. 0.637, P < 0.001), whereas LS and FIB-4 similarly predicted significant fibrosis (0.748 vs. 0.638, P = 0.071) and high-risk EVs (0.731 vs. 0.659, P = 0.303). The optimal cut-off values of 2D-SWE for detecting significant fibrosis, advanced fibrosis, cirrhosis, and high-risk EVs were 8.7 kPa, 12.8 kPa, 14.0 kPa, and 11.0 kPa, respectively. LS values were influenced by fibrosis stage, serum GGT, albumin, and total bilirubin levels. The overall concordance rate of the liver stiffness vs. Scheuer stages was 49.65%. CONCLUSIONS: 2D-SWE shows significantly greater diagnostic accuracy than serum fibrosis indexes for diagnosing advanced fibrosis and cirrhosis in patients with AIH-PBC overlap syndrome.

Differences in gastric microbiota and mucosal function between patients with chronic superficial gastritis and intestinal metaplasia.

Chronic superficial gastritis (CSG) and intestinal metaplasia (IM) can further develop into gastric cancer, which seriously endangers the health of people all over the world. In this study, the differences in gastric microbiota between CSG patients and IM patients were detected by 16S rRNA gene sequencing. As the expression levels of mucin and CDX2 are closely related to IM, the expression differences of mucin (MUC2 and MUC5AC) and CDX2 in the gastric mucosa of CSG patients and IM patients were detected by Western blot and qRT-PCR. The results showed that both Faith_pd and Observed_species indexes of microbiota in the gastric juice of CSG patients were significantly higher than those of IM patients. At the genus level, Thermus and Anoxybacillus were dominant in the gastric juice of IM patients, and Helicobacter was dominant in the gastric juice of CSG patients. Non-metric multidimensional scaling (NMDS) demonstrated that the dispersion of samples in the CSG group is greater than that in the IM group, and some samples in the CSG group are clustered with samples in the IM group. The KEGG metabolic pathway difference analysis of gastric juice microbiota in CSG and IM patients revealed that the gastric juice microbiota in the CSG and IM patients were significantly enriched in the amino acid metabolism, carbohydrate metabolism, and metabolism of cofactors and vitamins, and the functional differences between the two groups were mainly concentrated in the bacterial secretion system (VirB1, VirB2, VirB3, VirD2, and VirD4). In conclusion, there are significant differences in gastric microbiota and mucosal function between the CSG and IM patients. Moreover, the results of this study may provide a new means for the detection of CSG and IM and a new direction for the prevention and treatment of CSG and IM.

A new class of quaternary ammonium compounds as potent and environmental friendly disinfectants.

Quaternary ammonium compounds (QACs) are inexpensive and readily available disinfectants, and have been widely used, especially since the COVID-19 outbreak. The toxicity of QACs to humans has raised increasing concerns in recent years. Here, a new type of QACs was synthesized by replacing the alkyl chain with zinc phthalocyanine (ZnPc), which consists of a large aromatic ring and is hydrophobic in nature, similar to the alkyl chain of QACs. Three ZnPc-containing disinfectants were synthesized and fully characterized. These compounds showed 15-16 fold higher antimicrobial effect against Gram-negative bacteria than the well-known QACs with half-maximal inhibitory (IC50) values of 1.43 µM, 2.70 µM, and 1.31 µM, respectively. With the assistance of 680 nm light, compounds 4 and 6 had much higher bactericidal toxicities at nanomolar concentrations. Compound 6 had a bactericidal efficacy of close to 6 logs (99.9999% kill rate) at 1 µM to Gram-positive bacteria, including MRSA, under light illumination. Besides, these compounds were safe for mammalian cells. In a mouse model, compound 6 was effective in healing wound infection. Importantly, compound 6 was easily degraded at working concentrations under sunlight illumination, and is environmentally friendly. Thus, compound 6 is a novel and promising disinfectant.

A boy with amblyopia and familial exudative vitreoretinopathy harboring a new mutation of LRP5 and OPA1: A case report.

Background: The study aimed to report a boy with familial exudative vitreoretinopathy and amblyopia harboring a new mutation of the LRP5 and OPA1 gene abnormality. Case presentation: A 9-year-old boy presented with a 2-year history of deteriorating visual acuity in the right eye. His best-corrected visual acuity was -7.00/-1.75 × 100 = 0.3 in the right eye and -2.50/-1.50 × 170 = 0.8 in the left eye. Two autosomal dominant gene mutation sites were identified in the patient: LRP5 (c.2551C > T, p.His851Tyr) from his father and OPA1 (c.565G > A, p.Glu189Lys) from his mother. Interestingly, his fraternal twin brother harbored no abnormal gene mutations, and his eye tests were normal. Conclusion: This case expands the spectrum of LRP5 gene mutations among Chinese patients with familial exudative vitreoretinopathy, and it is the first time to report a patient harboring both LRP5 and OPA1 gene mutations having anisometropic amblyopia and strabismus as the primary manifestations. These four family members exhibited individual heterogeneity of phenotypes and genotypes associated with hereditary ophthalmopathy. A comprehensive analysis of clinical phenotypes and genotypes provides clinical clues for improving the level of clinical and genetic diagnoses and a deeper understanding of the disease.

Spontaneous rupture of the uterus in the third trimester after high-intensity ultrasound ablation in adenomyosis: A case report.

Adenomyosis is a benign uterine disease. Due to the higher incidence of adenomyosis and patients' demands for fertility, high-intensity ultrasound ablation has been widely used in gynecological patients with uterine fibroids and adenomyosis. Ultrasound ablation of lesions can help alleviate symptoms in patients without increasing the incidence of obstetric complications in subsequent pregnancies. High-intensity ultrasound ablation is not considered a risk factor for uterine rupture. However, we describe a case of adenomyosis treated with high-intensity ultrasound ablation presenting with uterine rupture in the third trimester. The patient underwent an emergency cesarean section to deliver the baby successfully and underwent uterine repair surgery. When treating patients with adenomyosis, care should be taken to protect the myometrium, endometrium, and serous layer to reduce the risk of uterine rupture.

Oncocytic Carcinoma of the Cranio-Orbital Area: A Case Report.

Oncocytic carcinoma is a malignant tumor characterized by a proliferation of epithelial cells with abundant eosinophilic granular cytoplasm. In this article, we report on the first case of a 61-year-old male patient presenting with oncocytic carcinoma involving the cranio-orbital area. An oncocytic carcinoma in the patient, who reported a sudden decrease in vision in his right eye, was removed through a frontal orbital approach craniotomy. The patient's postoperative development was rapid, and he was admitted to the neurosurgery department for a combined operation after ophthalmological screening. Pathological analysis revealed the tumour cells were large, round or polygonal, and the cytoplasm was finely granular and appeared to be more pleomorphic than the eosinophilic adenoma. Oncocytic carcinoma in the cranio-orbital area is extremely rare. The most effective treatment is early resection to be performed jointly by ophthalmology and neurosurgery, and long-term follow-up and adjuvant chemoradiotherapy are beneficial.

Intralobular pulmonary sequestration in the middle lobe supplied by a right internal mammary artery: a case report.

BACKGROUND: Pulmonary sequestration (PS) is a rare congenital malformation that is more common in the left lower lobe, and the thoracic aorta is the most common arterial supply. CASE PRESENTATION: We describe a case of a 67-year-old man with a chief complaint of intermittent cough and hemoptysis who had been diagnosed by multidetector computed tomography angiography with right middle lobe intralobular pulmonary sequestration supplied by a right internal mammary artery. Finally, he underwent middle pulmonary lobectomy with normal postoperative recovery. DISCUSSION: This is a rare intralobular pulmonary sequestration case for a feeding artery from the right internal mammary. Multidetector computed tomography angiography should be performed for diagnosis and preoperative evaluation once pulmonary sequestration is suspected.