Argininemia is a rare disorder of urea cycle defect. The clinical manifestations of this disorder are similar to those of cerebral palsy so that the diagnosis is usually much delayed. This study aimed to investigate the phenotypes and genotypes of seven Chinese patients suffering from argininemia.Three boys and four girls with spastic tetraplegia were diagnosed as argininemia by blood aminoacids analysis and ARG1 gene study. Patients were given a protein-restricted diet, citrulline, sodium benzoate, and other treatment intervention. The mother of Patient 5 and 6 accepted genetic counseling and underwent prenatal diagnosis by amniocentesis.Seven patients presented with progressive spastic tetraplegia and poor physical growth from the age of 1 month to 4 years. Argininemia was found at the age of 1 year and 10 months to 12 years. Five patients had mental retardations. Three had seizures. Their blood arginine elevated (86.66 to 349.83 µmol/L, normal controls 5 to 25 µmol/L). Liver dysfunction was found in six patients. Five patients had elevated blood ammonia levels. In four patients, cerebral atrophy was observed by cranial magnetic resonance imaging. Nine mutations in the ARG1 gene were identified from 7 patients. Only two mutations, c.703G > A in exon 7 and c.32T > C in exon 1 had been reported. c.34G > T, c.53G > A, c.67delG, c.232dupG, c.374C > T, c.539G > C and c.646-649delCTCA, were novel mutations of ARG1. A homozygous mutation c.703G > A was found in the amniocytes of Patient 5's mother, indicating that the fetus was affected by argininemia. Induced abortion was performed. c.53G > A from Patient 6 was not found in the amniocytes of her mother, indicating that the fetus was not affected by hepatocyte arginase deficiency. The result was confirmed by postnatal mutation analysis of cord blood and the normal blood arginine of the newborn.Argininemia is one of the few treatable causes of pediatric spastic paralysis. In this study, seven Chinese patients with spastic tetraplegia were detected by blood aminoacids analysis and confirmed by molecular analysis. Seven novel mutations on ARG1 gene were identified. Prenatal diagnosis of the fetus of a family was performed by amniocytes ARG1 gene analysis.
Menkes disease is a rare X-linked recessive disorder characterized by multi-systemic disorder of copper deficiency caused by ATP7A gene mutation. In this study, the clinical and laboratory features of three patients with Menkes disease were analyzed. Prenatal diagnosis had been performed for a fetus of a family. Three patients were admitted at the age of 8-9 months due to severe epilepsies and marked delayed psychomotor development. Significantly light complexion, pudgy cheeks and sparse fuzzy wooly hair were observed. On their cranial MR imaging, cortical atrophy, leukoencephalopathy, basal ganglia damage and tormesity of the intracranial vessels were found. Their plasma ceruloplasmin decreased to 70.2, 73.5 and 81 mg/L, significantly lower than normal range (210-530 mg/L). c.3914A>G (p. D1305G) was detected on ATP7A gene of case 1 and 2. A novel mutation, c.3265G>T (p.G1089X) was found in case 3. Both of them were firstly found in Chinese patients of Menkes disease. The mother of case 1 was tested at 20 weeks of pregnancy. Karyotype and ATP7A gene studies of the amniocytes were performed for the prenatal diagnosis of her fetus. Normal male karyotypes without c.3914A>G mutation on ATP7A gene was showed. Postnatal genetic analysis and normal development confirmed the prenatal diagnosis.
To accurately predict the risk of coal and gas outburst and evaluate the reliability of desorption indexes of drilling cuttings (K1 and ∆h2) in No. 16 coal seam of Pingmei No. 12 coal mine, two sets of coal samples were selected from the target coal seams for proximate analyses, methane adsorption/desorption tests, and desorption indexes of drilling cuttings tests. The results indicated that the desorption volume in the initial stage of desorption is large, and increases slowly in the later stage. The methane desorption volume of PMD1 and PMD2 coal samples accounts for 15.14%–18.09% and 15.72%–18.17% respectively in the first 1 min, and 43.92%–48.55% and 41.87%–52.25% respectively in the first 10 min in the 120 min desorption tests. Both K1 and ∆h2 present power function relationships with methane pressure. Similarly, the power function relationships also can be found between the initial desorption characteristics (Q1 and Q4–5) and the methane pressure. Finally, the average relative error between the measured value and the calculated value of Q1 based on K1 is less than that of Q4–5 based on ∆h2, which indicates that K1 is a more reliable index than ∆h2 to predict the risk of coal and gas outburst in the No. 16 coal seam of Pingmei No. 12 coal mine.
We report an electrochemical approach for pollutant CS2 upgrading via the thiocarbamylation of bioactive sulfoximines, in which CS2 and amines are incorporated as a readily source of dithiocarbamate. This protocol...
Abstract DEAD-box helicase 53 (DDX53) is a member of the DEAD-box protein family of RNA helicases. Unlike other family members that are responsible for RNA metabolism, the biological function of DDX53 and its impact on the human condition are unclear. Herein, We found 21 patients with loss-of-function variants at DDX53, of whom 19 patients exhibited neurological disorders. Notably, a local patient with a full-length DDX53 deletion mutation had hereditary spastic paraplegia-like (HSP-like) clinical manifestation with lower extremity spasticity, intellectual disability, walking disorder, visual impairment, and lateral ventricular white matter lesions. Bioinformatic analysis revealed that DDX53 was mainly expressed in the cerebellar cortex and may function as a tissue-specific RNA helicase. Transcriptome analysis showed that the expression of multiple brain-associated genes involved in synapse organization, neuron function, and neuromuscular junctions was affected by DDX53 depletion. Moreover, RNA immunoprecipitation sequencing (RIP-seq) analysis showed that DDX53 interacted with 176 genes, and 97 of these genes were associated with the execution of neurofunction, particularly in the regulation of cell projection organization and nervous system development. Collectively, although a more specified cell or animal model is required to fully understand the functional role of DDX53 in the human brain, we report for the first time that DDX53 is required for the maintenance of neuronal function and that loss-of-function mutations in DDX53 may cause HSP due to impaired RNA metabolism in the nervous system.
ABSTRACT Background An uncommon cancer, lymphoepithelioma‐like carcinoma (LELC) resembles undifferentiated nasopharyngeal carcinoma (NPC) histologically. The aim is mainly to introduce the diagnosis and treatment of LELC and compare it with NPC in our descriptive study. Methods A total of 278 patients with NPC and 157 patients with head and neck LELC had their medical records examined in this study. The propensity score matching (PSM) approach was employed to attain a 1:1 match between the LELC and NPC groups. Kaplan–Meier analysis was performed for overall survival (OS) of LELC and NPC. To determine their predictive values for OS, univariate and multivariate Cox regression analyses with significant survival differences ( p < 0.05) were carried out. Results Similar to NPC, 107 (68.2%) LELC cases had Epstein–Barr virus (EBV) infection. LELC of the parotid glands was present in nearly 46.5% of patients with head and neck LELC. Most patients were treated with surgery with neck dissection. After PSM, LELC had similar 5‐year OS rates to NPC (81.6% vs. 79.0%). LELC was less prone to distant metastasis compared to NPC. Age, T stage, N stage, and distant metastases were found to be substantially correlated with the outcome of LELC, according to the multivariate Cox regression analysis ( p < 0.05). Conclusions EBV infection in the head and neck has been associated with LELC and NPC. When compared to NPC, LELC is more likely to arise in the salivary glands and has a lower incidence of distant metastasis. Surgery with neck dissection is the primary treatment for LELC.
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