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The Anatomic and Functional Outcomes of Ozurdex-Aided Vitrectomy in Proliferative Diabetic Retinopathy.
Wang, M, Luan, R, Liu, B, Gong, Y, Zhao, J, Chen, X, Yang, Q, Liu, J, Liu, J, Shao, Y, et al
Diabetes, metabolic syndrome and obesity : targets and therapy. 2024;:1199-1213
Abstract
PURPOSE To investigate the 3-months outcomes of patients who underwent intraoperative intravitreal injection of Ozurdex for proliferative diabetic retinopathy (PDR). METHODS This is a prospective randomized controlled clinical trial (ChiCTR2100043399). Seventy-one patients with PDR who had indications for surgery without intravitreal injection history within 3 months preoperatively were enrolled. Patients were randomly divided into three groups based on the medicine injected intraoperatively: Ozurdex, Conbercept, and Control group. The primary outcome is the best-corrected visual acuity (BCVA) within 3 months postoperatively. The secondary outcomes include the intraocular pressure (IOP), mean sensitivity, central retinal thickness and vessels perfusion. RESULTS The BCVA and the mean sensitivity improved in the three groups (F = 130.8, P < 0.0001; F = 34.18, P < 0.0001), but there was no statistical difference among the three groups (F = 0.858, P = 0.552; F = 0.964, P = 0.452). The IOP was no significant differences among the three groups within 3 months postoperatively (F = 0.881, P = 0.533). Compared with the other two groups, central retinal thickness (CRT) and outer retinal layer (ORL) thickness decreased significantly in patients of the Ozurdex group (F = 3.037, P = 0.008; F = 2.626, P = 0.018), especially in the diabetic macular edema (DME) patients (F = 2.761, P = 0.0164; F = 2.572, P = 0.0240). In macular region, superficial vascular plexus (SVP), intermediate capillary plexus (ICP) and deep capillary plexus (DCP) perfusion were not shown statistical difference at 3 months postoperatively in the all three groups compared with 1 day postoperatively (P > 0.05). CONCLUSION Compared with the other two groups, anatomical outcomes was improved significantly in Ozurdex group for DR patients. Ozurdex may help to improve the visual acuity and visual sensitivity, and there is no significant difference in the change of IOP and microvascular improvement. CLINICAL TRIAL REGISTRATION This trial is registered with the Chinese Clinical Trial Registry (http://www.chictr.org.cn, registration number ChiCTR2100043399).
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Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literature.
Li, J, Wei, X, Sun, Y, Chen, X, Zhang, Y, Cui, X, Shu, J, Li, D, Cai, C
Molecular genetics & genomic medicine. 2024;(4):e2400
Abstract
BACKGROUND Phosphoserine aminotransferase deficiency (PSATD) is an autosomal recessive disorder associated with hypertonia, psychomotor retardation, and acquired microcephaly. Patients with PSATD have low concentrations of serine in plasma and cerebrospinal fluid. METHODS We reported a 2-year-old female child with developmental delay, dyskinesia, and microcephaly. LC-MS/MS was used to detect amino acid concentration in the blood and whole-exome sequencing (WES) was used to identify the variants. PolyPhen-2 web server and PyMol were used to predict the pathogenicity and changes in the 3D model molecular structure of protein caused by variants. RESULTS WES demonstrated compound heterozygous variants in PSAT1, which is associated with PSATD, with a paternal likely pathogenic variant (c.235G>A, Gly79Arg) and a maternal likely pathogenic variant (c.43G>C, Ala15Pro). Reduced serine concentration in LC-MS/MS further confirmed the diagnosis of PSATD in this patient. CONCLUSIONS Our findings demonstrate the importance of WES combined with LC-MS/MS reanalysis in the diagnosis of genetic diseases and expand the PSAT1 variant spectrum in PSATD. Moreover, we summarize all the cases caused by PSAT1 variants in the literature. This case provides a vital reference for the diagnosis of future cases.
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Coxsackie B virus-induced myocarditis in a patient with a history of lymphoma: A case report and review of literature.
Zhang, Q, Yuan, J, Zhao, W, Ouyang, W, Chen, B, Li, Y, Tao, J, Chen, X, Li, G, Guo, Z, et al
Medicine. 2024;(10):e37248
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INTRODUCTION In rare occasions, coxsackievirus infections can cause serious illness, such as encephalitis and myocarditis. The immunotherapies of cancer could increase the risk of myocarditis, especially when applying immune checkpoint inhibitors. Herein, we report a rare case of Coxsackie B virus-induced myocarditis in a patient with a history of lymphoma. CASE PRESENTATION A 32-year-old woman was admitted to the hospital with recurrent fever for more than 20 days, and she had a history of lymphoma. Before admission, the positron emission tomography/computed tomography result indicated that the patient had no tumor progression, and she was not considered the cancer-related fever upon arriving at our hospital. Patient's red blood cell, platelet count, and blood pressure were decreased. In addition, she had sinus bradycardia and 3 branch blocks, which was consistent with acute high lateral and anterior wall myocardial infarction. During hospitalization, the patient had recurrent arrhythmia, repeated sweating, poor mentation, dyspnea, and Coxsackie B virus were detected in patient's blood samples by pathogen-targeted next-generation sequencing. The creatine kinase, creatine kinase MB, and N-terminal pro-brain natriuretic peptide were persistently elevated. Consequently, the patient was diagnosed with viral myocarditis induced by Coxsackie B virus, and treated with acyclovir, gamma globulin combined with methylprednisolone shock therapy, trimetazidine, levosimendan, sildenan, continuous pump pressors with m-hydroxylamine, entecavir, adefovir, glutathione, pantoprazole, and low-molecular-weight heparin. Her symptoms worsened and died. CONCLUSION We reported a case with a history of lymphoma presented with fever, myocardial injury, who was ultimately diagnosed with Coxsackie B virus-induced myocarditis. Moreover, pathogen-targeted next-generation sequencing indeed exhibited higher sensitivity compared to mNGS in detecting Coxsackie B virus.
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Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
Li, D, Zhou, B, Tian, X, Chen, X, Wang, Y, Hao, S, Zhang, C, Hui, L
Molecular genetics & genomic medicine. 2024;(1):e2327
Abstract
BACKGROUND Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare autosomal dominant neurologic disorder caused by a heterozygous variant of CSNK2B, which is characterized by early onset epilepsy, hypotonia, varying degrees of intellectual disability (ID), developmental delay (DD), and facial dysmorphism. This study clarifies the molecular diagnosis and causative factors of a Chinese boy with POBINDS. METHODS The clinical phenotypes and ancillary laboratory tests were collected and analyzed by trio whole exome sequencing (WES) and copy number variant sequencing (CNV-seq) in the follow-up proband's families. The candidate variant was validated by Sanger sequencing and bioinformatics software was used to further explore the effect of the de novo frameshift variant on the protein structure. RESULTS The proband carries a de novo frameshift variant c.453_c.454insAC (p.H152fs*76) in CSNK2B. According to the ACMG genetic variant classification criteria and guidelines, the locus is a pathogenic variant (PVS1+PS2+PM2) and the associated disease was POBINDS. Protein structure prediction suggests significant differences in amino acid sequences before and after mutation. CONCLUSION A rare case of POBINDS caused by a novel frameshift variant in CSNK2B was diagnosed. The novel variant extends the variation spectrum of CSNK2B, which provides guidance for early clinical diagnosis, genetic counseling and treatment of this family. A review of the currently reported cases of POBINDS further enriches and summarizes the relationship between genotype and phenotype of POBINDS.
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Hyperhidrosis as the initial symptom in FUS mutation-associated amyotrophic lateral sclerosis: a case report and comprehensive literature review.
Chen, X, Luo, J, Zheng, W, Huang, Q, Du, C, Yuan, H, Xiao, F
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2024;(4):1523-1527
Abstract
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that is now recognized to involve autonomic dysfunction. The burden of autonomic dysfunction is an important factor in the quality of life and prognosis of ALS patients. This article presents the clinical characteristics of a young female ALS patient with a fused in sarcoma (FUS) gene mutation and notable hyperhidrosis. METHOD Detailed clinical characteristics of the patients were collected, and comprehensive examinations such as electrophysiological assessment, neuro-ultrasound, genetic testing, and relevant blood tests were conducted. RESULT A 24-year-old female experienced progressive weakness in both lower limbs for over 5 months, along with excessive sweating on both palms and feet. A positive skin iodine-starch test was observed. Electromyography revealed extensive neurogenic damage and prolonged sympathetic skin response (SSR) latency in both lower limbs. Full exon gene sequencing showed a heterozygous mutation c.1574C>T (p.Pro525Leu) in the FUS gene. CONCLUSION The pathogenesis of ALS remains unclear at present. This case underscores the presence of autonomic nervous symptoms in ALS associated with FUS mutation and highlights the importance of early diagnosis and timely treatment intervention to enhance patient prognosis.
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Sporadic hypophosphatemic osteomalacia combined with psoriasis: A rare case report and a brief review of the literature.
Li, Y, Chen, X, Wang, B, Liu, X, Hou, S
International journal of rheumatic diseases. 2023;(5):968-972
Abstract
BACKGROUND Hypophosphatemic osteomalacia (HO) is an unusual metabolic disease characterized by low concentrations of serum phosphate levels, which leads to reduced mineralization of the bone matrix. Typically, HO consists of 4 common types: X-linked dominant hypophosphatemia (XLH), autosomal dominant hypophosphatemic rickets (ADHR), tumor-induced osteomalacia (TIO), and sporadic HO. CASE PRESENTATION We herein report the case of a 48-year-old man who developed multiple joint and bone pain and muscle weakness over 5 months with a 23-year history of psoriasis. He was diagnosed with psoriatic arthritis by primary hospitals but was unresponsive to etanercept and adalimumab treatments. After referral to our hospital, the patient was diagnosed with HOs combined with psoriasis. The patient was treated with oral phosphate solution, calcium, and active vitamin D, and the symptoms of bone and joint pain and muscle weakness gradually relieved. Since TIO accounts for the majority of adult-onset HO, positron emission tomography - computed tomography or octreotide imaging examinations had been done yearly to locate any underlying tumor in our patient, with negative findings in the 4-year follow-up. CONCLUSIONS Diagnosis of HO remains a challenge to rheumatologists, and especially to dermatologists when accompanied by psoriasis. After excluding the inherited HO and with negative tumor, this report may be the first male case of sporadic HO combined with psoriasis.
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Selective venous sampling in primary hyperparathyroidism caused by ectopic parathyroid gland: a case report and literature review.
Yang, X, Chen, X, Xu, H, Chen, J, Yao, B, Lin, Q, Deng, H, Xu, W
BMC endocrine disorders. 2023;(1):141
Abstract
BACKGROUND As an invasive technique, selective venous sampling (SVS) is considered a useful method to identify a lesion's location to increase the success rate of secondary surgery in patients with primary hyperparathyroidism (pHPT) caused by ectopic parathyroid adenomas. CASE PRESENTATION We present a case of post-surgical persistent hypercalcemia and elevated parathyroid hormone (PTH) levels in a 44-year-old woman with previously undetected parathyroid adenoma. An SVS was then performed for further localization of the adenoma, as other non-invasive methods showed negative results. After SVS, an ectopic adenoma was suspected in the sheath of the left carotid artery, previously considered as a schwannoma, and was pathologically confirmed after the second operation. Postoperatively, the patient's symptoms disappeared and serum levels of PTH and calcium normalized. CONCLUSIONS SVS can provide precise diagnosis and accurate positioning before re-operation in patients with pHPT.
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Hand-Schüller-Christian syndrome combined with empty sella syndrome: A case report and literature review.
Ji, W, Chen, X
Medicine. 2023;(10):e33216
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RATIONAL Hand-Schüller-Christian syndrome (HCS) is a rare disease with little clinical awareness, but the condition is more dangerous, and it combines with empty sella syndrome (ESS) which is extremely rare. PRESENTATION A 26-year-old male patient who had proptosis, headaches, and diabetes insipidus for more than 10 years, and chronic cough and wheeze for 8 years presented to our hospital due to an abrupt onset of chest pain for 2 days. DIAGNOSIS Hand-Schüller-Christian syndrome is diagnosed based on the typical clinical manifestations of diabetes insipidus and bilateral proptosis, magnetic resonance imaging (MRI) pituitary imaging and pathology. Empty sella syndrome is diagnosed based on hormonal indicators, clinical manifestations and MRI pituitary scan results. Type 1 respiratory failure and severe pneumonia can be diagnosed based on the results of clinical examination, chest imaging (including chest x-ray and computed tomography), pathology and blood gas analysis. Left pneumothorax can be diagnosed with chest imaging. INTERVENTIONS "Meropenem and Cefdinir" were given for antimicrobrial coverage, "Desmopressin acetate" for anti-diuretic treatment, "Forcodine" for cough relief, "Ambroxol and acetylcysteine" for phlegm reduction, and continuous closed chest drainage was performed. OUTCOMES The patient discharged after cough, wheezing, headache and other symptoms improved, and vital signs were stable. The patient has been followed up once a month for 17 months ongoing after discharge. At present, symptoms such as cough, sputum, and wheezing have improved considerably, and the mMRC score of dyspnea is 2 points. The reexamination of the chest X-ray shows that the absorption of lung exudates is better than before, and there is no recurrence of pneumothorax. LESSONS Consider whether isolated diabetic insipidus is related to HSC, and if so, conduct an MRI, a biopsy, and other examinations as soon as possible.
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Bilateral central retinal artery occlusion as a presenting manifestation of systemic lupus erythematosus: a case-based review.
Chen, X, Shi, X, Li, J, Wang, W, Wang, C, Cheng, Q, Xie, Y, Xue, J, Du, Y
Rheumatology international. 2023;(10):1947-1956
Abstract
Central retinal artery occlusion (CRAO) is an ophthalmic emergency that typically results in permanent vision damage even despite vigorous treatment. In this article, we describe a case of acute vaso-occlusive retinopathy that presented as the primary manifestation of SLE in the absence of elevated levels of APLAs. After treatment with intravenous steroids, immunoglobulin, intrathecal injection of dexamethasone, plasma exchange, and intravenous cyclophosphamide, SLE was well controlled in the patient, but her vision was permanently lost in the left eye. We also go over a brief review of the currently available literature on retinal vaso-occlusive disease present in SLE. The pathology mechanism of CRAO is related to immune complex-mediated "vasculitis", which is typically associated with neuropsychiatric lupus. However, the literature review identified antiphospholipid antibody syndrome (APS) in only 6 of 19 patients, indicating that other mechanisms besides APS are associated with CRAO. Systemic immunosuppression and anticoagulants are required for the treatment of this severe vaso-occlusive retinopathy. Early recognition and aggressive intervention may prevent severe loss of vision.
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High-Energy Enteral Nutrition in Infants After Complex Congenital Heart Surgery.
Ni, P, Chen, X, Zhang, Y, Zhang, M, Xu, Z, Luo, W
Frontiers in pediatrics. 2022;:869415
Abstract
BACKGROUND Malnutrition is common in complex congenital heart disease (CCHD). The purpose of this study was to compare the safety and efficacy of early initiation of high-energy enteral nutrition (EN) with regular energy EN in infants after surgery for CCHD. METHODS This is a subgroup analysis of a randomized controlled trial (RCT) which was conducted in the cardiac intensive care unit (CICU) of the largest pediatric heart center in China. Eighty children with CCHD after surgery were from two groups, the intervention group (n = 40) was given high-energy EN and the control group (n = 40) was given regular energy EN. We analyzed the effects of the two interventions on outcomes such as caloric attainment rate, gastrointestinal intolerance, duration of mechanical ventilation, and anthropometry at discharge. RESULTS There was no difference in the daily milk intake between the two groups, but the calorie intake (50.2 vs. 33.4, P < 0.001), protein intake (1.1 vs. 0.9, P < 0.001) and caloric attainment rate were higher in the intervention group (77.5 vs. 45.0%, P = 0.003). In addition, the incidence of pneumonia (P = 0.003) and duration of mechanical ventilation (P = 0.008) were less in the intervention group, and biceps circumference and triceps skinfold thickness at hospital discharge were greater than those in the control group (P < 0.001). We have not found statistical differences in gastrointestinal intolerance, glycemic fluctuations, incidence of pressure ulcers, length of CICU stay and postoperative hospital days between the two groups. CONCLUSIONS Early initiation of high-energy EN may be safe and effective in infants after complex cardiac surgery. Low doses high-energy EN did not increase gastrointestinal intolerance or glycemic fluctuations and also improved post-operative nutrition by increasing caloric and protein intake without increasing fluid intake.