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1.
J Biol Chem ; 299(10): 105220, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37660921

RESUMO

Pharmacological inhibition of mitochondrial fatty acid oxidation (FAO) has been clinically used to alleviate certain metabolic diseases by remodeling cellular metabolism. However, mitochondrial FAO inhibition also leads to mechanistic target of rapamycin complex 1 (mTORC1) activation-related protein synthesis and tissue hypertrophy, but the mechanism remains unclear. Here, by using a mitochondrial FAO inhibitor (mildronate or etomoxir) or knocking out carnitine palmitoyltransferase-1, we revealed that mitochondrial FAO inhibition activated the mTORC1 pathway through general control nondepressible 5-dependent Raptor acetylation. Mitochondrial FAO inhibition significantly promoted glucose catabolism and increased intracellular acetyl-CoA levels. In response to the increased intracellular acetyl-CoA, acetyltransferase general control nondepressible 5 activated mTORC1 by catalyzing Raptor acetylation through direct interaction. Further investigation also screened Raptor deacetylase histone deacetylase class II and identified histone deacetylase 7 as a potential regulator of Raptor. These results provide a possible mechanistic explanation for the mTORC1 activation after mitochondrial FAO inhibition and also bring light to reveal the roles of nutrient metabolic remodeling in regulating protein acetylation by affecting acetyl-CoA production.

2.
Zhongguo Dang Dai Er Ke Za Zhi ; 26(3): 321-324, 2024 Mar 15.
Artigo em Zh | MEDLINE | ID: mdl-38557387

RESUMO

The male patient, one day old, was admitted to the hospital due to hypoglycemia accompanied by apnea appearing six hours after birth. The patient had transient hypoglycemia early after birth, and acute heart failure suddenly occurred on the eighth day after birth. Laboratory tests showed significantly reduced levels of adrenocorticotropic hormone and cortisol, and pituitary magnetic resonance imaging was normal. Genetic testing results showed that the patient had probably pathogenic compound heterozygous mutations of the TBX19 gene (c.917-2A>G+c.608C>T), inherited respectively from the parents. The patient was conclusively diagnosed with congenital isolated adrenocorticotropic hormone deficiency caused by mutation of the TBX19 gene. Upon initiating hydrocortisone replacement therapy, cardiac function rapidly returned to normal. After being discharged, the patient continued with the hydrocortisone replacement therapy. By the 18-month follow-up, the patient was growing and developing well. In neonates, unexplained acute heart failure requires caution for possible endocrine hereditary metabolic diseases, and timely cortisol testing and genetic testing should be conducted.


Assuntos
Insuficiência Adrenal , Insuficiência Cardíaca , Hipoglicemia , Recém-Nascido , Humanos , Masculino , Hidrocortisona/uso terapêutico , Hipoglicemia/etiologia , Insuficiência Adrenal/congênito , Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/genética , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/genética , Hormônio Adrenocorticotrópico
3.
Zhongguo Dang Dai Er Ke Za Zhi ; 26(4): 403-409, 2024 Apr 15.
Artigo em Zh | MEDLINE | ID: mdl-38660905

RESUMO

Further evidence is needed to explore the impact of high-altitude environments on the neurologic function of neonates. Non-invasive techniques such as cerebral near-infrared spectroscopy and amplitude-integrated electroencephalography can provide data on cerebral oxygenation and brain electrical activity. This study will conduct multiple cerebral near-infrared spectroscopy and amplitude-integrated electroencephalography monitoring sessions at various time points within the first 3 days postpartum for healthy full-term neonates at different altitudes. The obtained data on cerebral oxygenation and brain electrical activity will be compared between different altitudes, and corresponding reference ranges will be established. The study involves 6 participating centers in the Chinese High Altitude Neonatal Medicine Alliance, with altitude gradients divided into 4 categories: 800 m, 1 900 m, 2 400 m, and 3 500 m, with an anticipated sample size of 170 neonates per altitude gradient. This multicenter prospective cohort study aims to provide evidence supporting the impact of high-altitude environments on early brain function and metabolism in neonates.


Assuntos
Altitude , Encéfalo , Eletroencefalografia , Oxigênio , Humanos , Recém-Nascido , Encéfalo/metabolismo , Oxigênio/metabolismo , Espectroscopia de Luz Próxima ao Infravermelho , Estudos Prospectivos
4.
Am J Physiol Regul Integr Comp Physiol ; 324(3): R281-R292, 2023 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-36572553

RESUMO

The regulation of cholesterol metabolism in fish is still unclear. Statins play important roles in promoting cholesterol metabolism development in mammals. However, studies on the role of statins in cholesterol metabolism in fish are currently limited. The present study evaluated the effects of statins on cholesterol metabolism in fish. Nile tilapia (Oreochromis niloticus) were fed on control diets supplemented with three atorvastatin levels (0, 12, and 24 mg/kg diet, ATV0, ATV12, and ATV24, respectively) for 4 wk. Intriguingly, the results showed that both atorvastatin treatments increased hepatic cholesterol and triglyceride contents mainly through inhibiting bile acid synthesis and efflux, and compensatorily enhancing cholesterol synthesis in fish liver (P < 0.05). Moreover, atorvastatin treatment significantly inhibited hepatic very-low-density lipoprotein (VLDL) assembly and thus decreased serum VLDL content (P < 0.05). However, fish treated with atorvastatin significantly reduced cholesterol and triglycerides contents in adipose tissue (P < 0.05). Further molecular analysis showed that atorvastatin treatment promoted cholesterol synthesis and lipogenesis pathways, but inhibited lipid catabolism and low-density lipoprotein (LDL) uptake in the adipose tissue of fish (P < 0.05). In general, atorvastatin induced the remodeling of lipid distribution between liver and adipose tissues through blocking VLDL efflux from the liver to adipose tissue of fish. Our results provide a novel regulatory pattern of cholesterol metabolism response caused by atorvastatin in fish, which is distinct from mammals: cholesterol inhibition by atorvastatin activates hepatic cholesterol synthesis and inhibits its efflux to maintain cholesterol homeostasis, consequently reduces cholesterol storage in fish adipose tissue.


Assuntos
Inibidores de Hidroximetilglutaril-CoA Redutases , Animais , Atorvastatina/farmacologia , Atorvastatina/metabolismo , Inibidores de Hidroximetilglutaril-CoA Redutases/farmacologia , Inibidores de Hidroximetilglutaril-CoA Redutases/metabolismo , Lipoproteínas/metabolismo , Lipoproteínas/farmacologia , Colesterol , Fígado/metabolismo , Triglicerídeos , Lipoproteínas VLDL , Tecido Adiposo/metabolismo , Metabolismo dos Lipídeos , Mamíferos/metabolismo
5.
Opt Express ; 31(11): 17782-17791, 2023 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-37381503

RESUMO

Multipartite entanglements are essential resources for proceeding tasks in quantum information science and technology. However, generating and verifying them present significant challenges, such as the stringent requirements for manipulations and the need for a huge number of building-blocks as the systems scale up. Here, we propose and experimentally demonstrate the heralded multipartite entanglements on a three-dimensional photonic chip. Integrated photonics provide a physically scalable way to achieve an extensive and adjustable architecture. Through sophisticated Hamiltonian engineering, we are able to control the coherent evolution of shared single photon in the multiple spatial modes, dynamically tuning the induced high-order W-states of different orders in a single photonic chip. Using an effective witness, we successfully observe and verify 61-partite quantum entanglements in a 121-site photonic lattice. Our results, together with the single-site-addressable platform, offer new insights into the accessible size of quantum entanglements and may facilitate the developments of large-scale quantum information processing applications.

6.
Phys Rev Lett ; 130(6): 060802, 2023 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-36827576

RESUMO

Boson sampling is a computational problem, which is commonly believed to be a representative paradigm for attaining the milestone of quantum advantage. So far, massive efforts have been made to the experimental large-scale boson sampling for demonstrating this milestone, while further applications of the machines remain a largely unexplored area. Here, we investigate experimentally the efficiency and security of a cryptographic one-way function that relies on coarse-grained boson sampling, in the framework of a photonic boson-sampling machine fabricated by a femtosecond laser direct writing technique. Our findings demonstrate that the implementation of the function requires moderate sample sizes, which can be over 4 orders of magnitude smaller than the ones predicted by the Chernoff bound; whereas for numbers of photons n≥3 and bins d∼poly(m,n), the same output of the function cannot be generated by nonboson samplers. Our Letter is the first experimental study that deals with the potential applications of boson sampling in the field of cryptography and paves the way toward additional studies in this direction.

7.
J Asian Nat Prod Res ; 25(12): 1217-1222, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37163366

RESUMO

A new abietane diterpenoid, 1ß, 11-epoxyabieta-12-hydroxy-8, 11, 13-triene-7-one (1), along with three known compounds (2-4), was isolated from Lycopodium complanatum. Their structures were confirmed by the analysis of 1D, 2D NMR and HRESIMS data, and comparison with previous spectral data. All compounds were tested for inhibitory activities against A549, HepG2 and MCF-7 tumor cell lines. [Figure: see text].


Assuntos
Antineoplásicos Fitogênicos , Lycopodium , Humanos , Abietanos/farmacologia , Abietanos/química , Estrutura Molecular , Lycopodium/química , Linhagem Celular Tumoral , Células MCF-7 , Antineoplásicos Fitogênicos/farmacologia , Antineoplásicos Fitogênicos/química
8.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(6): 658-662, 2023 Jun 15.
Artigo em Zh | MEDLINE | ID: mdl-37382138

RESUMO

The female infant in this case study was admitted to the hospital 4 hours after birth due to preterm birth and respiratory distress. On the third day after birth, peripherally inserted central venous catheter (PICC) catheterization was performed. On day 42, thrombus was found at the entrance of the right atrium from the inferior vena cava during a cardiac ultrasound, and it was considered to be related to PICC placement. Low-molecular-weight heparin and urokinase were given. After two weeks of treatment, ultrasonic monitoring showed thrombus shrinkage. No bleeding or pulmonary embolism occurred during the treatment. The patient discharged after improvement. This article mainly introduces a multidisciplinary team approach to diagnosis and treatment of PICC-related thrombosis in neonates.


Assuntos
Cateterismo Periférico , Cateteres Venosos Centrais , Nascimento Prematuro , Recém-Nascido , Lactente , Humanos , Feminino , Cateteres Venosos Centrais/efeitos adversos , Dispneia , Ecocardiografia
9.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(4): 431-435, 2023 Apr 15.
Artigo em Zh | MEDLINE | ID: mdl-37073851

RESUMO

The male neonate in this case study was admitted to the hospital at 15 hours of age due to respiratory distress for 15 hours and poor response for 3 hours after resuscitation from asphyxia. The neonate was highly unresponsive, with central respiratory failure and seizures. Serum ammonia was elevated (>1 000 µmol/L). Blood tandem mass spectrometry revealed a significant decrease in citrulline. Rapid familial whole genome sequencing revealed OTC gene mutations inherited from the mother. Continuous hemodialysis filtration and other treatments were given. Neurological assessment was performed by cranial magnetic resonance imaging and electroencephalogram. The neonate was diagnosed with ornithine transcarbamylase deficiency combined with brain injury. He died at 6 days of age after withdrawing care. This article focuses on the differential diagnosis of neonatal hyperammonemia and introduces the multidisciplinary management of inborn error of metabolism.


Assuntos
Hiperamonemia , Doença da Deficiência de Ornitina Carbomoiltransferase , Humanos , Recém-Nascido , Masculino , Citrulina , Eletroencefalografia , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico , Doença da Deficiência de Ornitina Carbomoiltransferase/terapia , Convulsões
10.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(12): 1293-1298, 2023 Dec 15.
Artigo em Zh | MEDLINE | ID: mdl-38112150

RESUMO

This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the LPL gene, with one variation inherited from the father and the other from the mother. The patient was diagnosed with lipoprotein lipase deficiency-related hyperlipoproteinemia. Acute symptoms including bloody stools, fever, and bloody ascites led to the consideration of acute pancreatitis, and the treatment involved fasting, plasma exchange, and whole blood exchange. Following the definitive diagnosis based on the genetic results, the patient was given a low-fat diet and received treatment with fat-soluble vitamins and trace elements, as well as adjustments to the feeding plan. After a 4-week hospitalization, the patient's condition improved and he was discharged. Follow-up showed a decrease in triglycerides and total cholesterol levels. At the age of 1 year, the patient's growth and psychomotor development were normal. This article emphasizes the multidisciplinary diagnosis and treatment of familial hyperlipoproteinemia presenting with symptoms suggestive of acute pancreatitis, including bloody ascites, in the neonatal period.


Assuntos
Hiperlipoproteinemia Tipo I , Hiperlipoproteinemias , Pancreatite , Humanos , Lactente , Masculino , Doença Aguda , Ascite , Colesterol , Hiperlipoproteinemia Tipo I/diagnóstico , Hiperlipoproteinemia Tipo I/genética , Lipase Lipoproteica/genética , Triglicerídeos
11.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(2): 135-139, 2023 Feb 15.
Artigo em Zh | MEDLINE | ID: mdl-36854688

RESUMO

OBJECTIVES: To explore the application of whole-genome sequencing (WGS) in the rapid clinical diagnosis of critically ill neonates. METHODS: The critically ill neonates who admitted to the neonatal intensive care unit of Children's Hospital of Fudan University and underwent WGS from August to September, 2019 were enrolled in this prospective study. The genetic testing results and clinical outcome were analyzed with reference to the sequencing data and clinical features of the neonates. RESULTS: A total of 15 neonates were tested, among whom there were 9 boys and 6 girls. The main reason for hospitalization included abnormal breathing in 7 neonates, poor response in 2 neonates, feeding difficulty in 2 neonates, fever in 1 neonate, hypothermia in 1 neonate, preterm birth in 1 neonate, and convulsion in 1 neonate. The mean turn-around time was 4.5 days for WGS. Finally a genetic diagnosis was obtained for 3 neonates, with a positive diagnostic rate of 20% (3/15). Among the 3 neonates, 2 neonates were withdrawn from the treatment due to severe conditions and 1 neonate died on the day when the sample was sent for genetic testing, whose etiology could be explained by the results of genetic testing. CONCLUSIONS: WGS technique can provide a timely and effective diagnosis for critically ill neonates suspected of genetic diseases and provide genetic evidence for clinical treatment of critically ill cases.


Assuntos
Estado Terminal , Nascimento Prematuro , Recém-Nascido , Masculino , Criança , Feminino , Humanos , Estudos Prospectivos , Dispneia , Febre
12.
Opt Express ; 30(18): 32887-32894, 2022 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-36242341

RESUMO

Integrated photonic architectures based on optical waveguides are one of the leading candidates for the future realisation of large-scale quantum computation. One of the central challenges in realising this goal is simultaneously minimising loss whilst maximising interferometric visibility within waveguide circuits. One approach is to reduce circuit complexity and depth. A major constraint in most planar waveguide systems is that beamsplitter transformations between distant optical modes require numerous intermediate SWAP operations to couple them into nearest neighbour proximity, each of which introduces loss and scattering. Here, we propose a 3D architecture which can significantly mitigate this problem by geometrically bypassing trivial intermediate operations. We demonstrate the viability of this concept by considering a worst-case 2D scenario, where we interfere the two most distant optical modes in a planar structure. Using femtosecond laser direct-writing technology we experimentally construct a 2D architecture to implement Hong-Ou-Mandel interference between its most distant modes, and a 3D one with corresponding physical dimensions, demonstrating significant improvement in both fidelity and efficiency in the latter case. In addition to improving fidelity and efficiency of individual non-adjacent beamsplitter operations, this approach provides an avenue for reducing the optical depth of circuits comprising complex arrays of beamsplitter operations.

13.
Phys Rev Lett ; 128(5): 050503, 2022 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-35179918

RESUMO

As random operations for quantum systems are intensively used in various quantum information tasks, a trustworthy measure of the randomness in quantum operations is highly demanded. The Haar measure of randomness is a useful tool with wide applications, such as boson sampling. Recently, a theoretical protocol was proposed to combine quantum control theory and driven stochastic quantum walks to generate Haar-uniform random operations. This opens up a promising route to converting classical randomness to quantum randomness. Here, we implement a two-dimensional stochastic quantum walk on the integrated photonic chip and demonstrate that the average of all distribution profiles converges to the even distribution when the evolution length increases, suggesting the 1-pad Haar-uniform randomness. We further show that our two-dimensional array outperforms the one-dimensional array of the same number of waveguide for the speed of convergence. Our Letter demonstrates a scalable and robust way to generate Haar-uniform randomness that can provide useful building blocks to boost future quantum information techniques.

14.
Phys Rev Lett ; 129(17): 173602, 2022 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-36332261

RESUMO

Quantum-correlated biphoton states play an important role in quantum communication and processing, especially considering the recent advances in integrated photonics. However, it remains a challenge to flexibly transport quantum states on a chip, when dealing with large-scale sophisticated photonic designs. The equivalence between certain aspects of quantum optics and solid-state physics makes it possible to utilize a range of powerful approaches in photonics, including topologically protected boundary states, graphene edge states, and dynamic localization. Optical dynamic localization allows efficient protection of classical signals in photonic systems by implementing an analogue of an external alternating electric field. Here, we report on the observation of dynamic localization for quantum-correlated biphotons, including both the generation and the propagation aspects. As a platform, we use sinusoidal waveguide arrays with cubic nonlinearity. We record biphoton coincidence count rates as evidence of robust generation of biphotons and demonstrate the dynamic localization features in both spatial and temporal space by analyzing the quantum correlation of biphotons at the output of the waveguide array. Experimental results demonstrate that various dynamic modulation parameters are effective in protecting quantum states without introducing complex topologies. Our Letter opens new avenues for studying complex physical processes using photonic chips and provides an alternative mechanism of protecting communication channels and nonclassical quantum sources in large-scale integrated quantum optics.

15.
Nature ; 530(7588): 98-102, 2016 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-26808898

RESUMO

Methyl-CpG binding protein 2 (MeCP2) has crucial roles in transcriptional regulation and microRNA processing. Mutations in the MECP2 gene are found in 90% of patients with Rett syndrome, a severe developmental disorder with autistic phenotypes. Duplications of MECP2-containing genomic segments cause the MECP2 duplication syndrome, which shares core symptoms with autism spectrum disorders. Although Mecp2-null mice recapitulate most developmental and behavioural defects seen in patients with Rett syndrome, it has been difficult to identify autism-like behaviours in the mouse model of MeCP2 overexpression. Here we report that lentivirus-based transgenic cynomolgus monkeys (Macaca fascicularis) expressing human MeCP2 in the brain exhibit autism-like behaviours and show germline transmission of the transgene. Expression of the MECP2 transgene was confirmed by western blotting and immunostaining of brain tissues of transgenic monkeys. Genomic integration sites of the transgenes were characterized by a deep-sequencing-based method. As compared to wild-type monkeys, MECP2 transgenic monkeys exhibited a higher frequency of repetitive circular locomotion and increased stress responses, as measured by the threat-related anxiety and defensive test. The transgenic monkeys showed less interaction with wild-type monkeys within the same group, and also a reduced interaction time when paired with other transgenic monkeys in social interaction tests. The cognitive functions of the transgenic monkeys were largely normal in the Wisconsin general test apparatus, although some showed signs of stereotypic cognitive behaviours. Notably, we succeeded in generating five F1 offspring of MECP2 transgenic monkeys by intracytoplasmic sperm injection with sperm from one F0 transgenic monkey, showing germline transmission and Mendelian segregation of several MECP2 transgenes in the F1 progeny. Moreover, F1 transgenic monkeys also showed reduced social interactions when tested in pairs, as compared to wild-type monkeys of similar age. Together, these results indicate the feasibility and reliability of using genetically engineered non-human primates to study brain disorders.


Assuntos
Transtorno Autístico/genética , Transtorno Autístico/psicologia , Modelos Animais de Doenças , Mutação em Linhagem Germinativa/genética , Hereditariedade/genética , Proteína 2 de Ligação a Metil-CpG/genética , Proteína 2 de Ligação a Metil-CpG/metabolismo , Animais , Animais Geneticamente Modificados , Ansiedade/genética , Ansiedade/psicologia , Transtorno Autístico/metabolismo , Transtorno Autístico/fisiopatologia , Encéfalo/metabolismo , Cognição/fisiologia , Feminino , Humanos , Locomoção/genética , Locomoção/fisiologia , Macaca fascicularis , Masculino , Fenótipo , Comportamento Social , Injeções de Esperma Intracitoplásmicas , Transgenes/genética
16.
Aquac Nutr ; 2022: 8016616, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36860444

RESUMO

Since high-fat diet (HFD) intake elevates liver cholesterol and enhanced cholesterol-bile acid flux alleviates its lipid deposition, we assumed that the promoted cholesterol-bile acid flux is an adaptive metabolism in fish when fed an HFD. The present study investigated the characteristic of cholesterol and fatty acid metabolism in Nile tilapia (Oreochromis niloticus) after feeding an HFD (13% lipid level) for four and eight weeks. Visually healthy Nile tilapia fingerlings (average weight 3.50 ± 0.05 g) were randomly distributed into four treatments (4-week control diet or HFD and 8-week control diet or HFD). The liver lipid deposition and health statue, cholesterol/bile acid, and fatty acid metabolism were analyzed in fish after short-term and long-term HFD intake. The results showed that 4-week HFD feeding did not change serum alanine transaminase (ALT) and aspartate transferase (AST) enzyme activities, along with comparable liver malondialdehyde (MDA) content. But higher serum ALT and AST enzyme activities and liver MDA content were observed in fish fed 8-week HFD. Intriguingly, remarkably accumulated total cholesterol (mainly cholesterol ester, CE) was observed in the liver of fish fed 4-week HFD, along with slightly elevated free fatty acids (FFAs) and comparable TG contents. Further molecular analysis in the liver showed that obvious accumulation of CE and total bile acids (TBAs) in fish fed 4-week HFD was mainly attributed to the enhancement of cholesterol synthesis, esterification, and bile acid synthesis. Furthermore, the increased protein expressions of acyl-CoA oxidase 1/2 (Acox1 and Acox2), which serve as peroxisomal fatty acid ß-oxidation (FAO) rate-limiting enzymes and play key roles in the transformation of cholesterol into bile acids, were found in fish after 4-week HFD intake. Notably, 8-week HFD intake remarkably elevated FFA content (about 1.7-fold increase), and unaltered TBAs were found in fish liver, accompanied by suppressed Acox2 protein level and cholesterol/bile acid synthesis. Therefore, the robust cholesterol-bile acid flux serves as an adaptive metabolism in Nile tilapia when fed a short-term HFD and is possibly via stimulating peroxisomal FAO. This finding enlightens our understanding on the adaptive characteristics of cholesterol metabolism in fish fed an HFD and provides a new possible treatment strategy against metabolic disease induced by HFD in aquatic animals.

17.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(6): 614-619, 2022 Jun 15.
Artigo em Zh | MEDLINE | ID: mdl-35762425

RESUMO

Microtia is the second most common maxillofacial birth defect in neonates and has an prevalence rate of 3.06/10 000 in China, and 20%-60% of microtia cases is associated with a certain type of syndrome. This article elaborates on the clinical phenotypes and genetic characteristics of three microtia-associated syndromes (MASs) with high prevalence, high incidence rate of ear deformity, and definite genetic etiology, i.e., oculo-auriculo-vertebral spectrum, branchio-oto-renal spectrum disorder, and Treacher-Collins syndrome, and summarizes another three common MASs, so as to provide a reference for the genetic diagnosis of neonatal MAS.


Assuntos
Microtia Congênita , China , Microtia Congênita/genética , Humanos , Recém-Nascido , Fenótipo , Prevalência , Síndrome
18.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(6): 711-716, 2022 Jun 15.
Artigo em Zh | MEDLINE | ID: mdl-35762440

RESUMO

Leukodystrophy (LD) is a group of genetic heterogeneous diseases characterized by primary abnormalities in glial cells and myelin sheath, and it is a common nervous system disease in children and has significant genotype-phenotype correlation. In recent years, the improvement in high-throughput sequencing has changed the diagnostic and therapeutic mode of LD, and elaborative phenotype analysis, such as the collection of natural history and multimodal neuroimaging evaluation during development, also provides important information for subsequent genetic diagnosis. This article reviews LD from the perspective of clinical genetics, in order to improve the awareness of this disease among pediatricians in China.


Assuntos
Doenças Desmielinizantes , Doenças Neurodegenerativas , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Bainha de Mielina , Fenótipo
19.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(12): 1301-1306, 2022 Dec 15.
Artigo em Zh | MEDLINE | ID: mdl-36544407

RESUMO

Coronavirus disease 2019 (COVID-19) has become a worldwide pandemic since the end of 2019. There is an increasing number of reports on nervous system symptoms, among which encephalitis is considered a serious neurological complication of COVID-19, but there are few reports of this complication in China. Acute encephalitis has severe symptoms. If it is not identified early and treated in time, the mortality is high and the prognosis is poor. During the current global epidemic, it is necessary to pay attention to the severe nervous system symptoms of COVID-19. Therefore, this article summarizes the clinical features of COVID-19 complicated by acute encephalitis through literature review and a detailed analysis of medical records, so as to provide a reference for clinicians to deal with the cases of COVID-19 complicated by acute encephalitis.


Assuntos
COVID-19 , Encefalite , Doenças do Sistema Nervoso , Criança , Humanos , COVID-19/complicações , COVID-19/epidemiologia , Encefalite/diagnóstico , Encefalite/etiologia , Encefalite/epidemiologia , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/epidemiologia , Pandemias , SARS-CoV-2
20.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(12): 1289-1294, 2022 Dec 15.
Artigo em Zh | MEDLINE | ID: mdl-36544405

RESUMO

OBJECTIVES: To investigate the persistent symptoms in preschool children after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Omicron variant infection, and to provide a basis for developing follow-up plans after infection and reducing and preventing related symptoms after infection. METHODS: The children, aged 0-5 years, who had Omicron BA.2 infection and were discharged from the pediatric ward of Shanghai Renji Hospital South Branch from April 13 to May 8, 2022, were enrolled as subjects, and related demographic and clinical data were collected. The children were followed up from the time to SARS-CoV-2 clearance for two consecutive tests with an interval of >24 hours till 4-5 weeks after clearance, and telephone follow-up was performed on the primary caregivers to investigate related persistent symptoms. RESULTS: Among the 103 children who met the inclusion criteria, there were 61 boys and 42 girls, with a median age of 18 months. The primary caregivers who had received two or more doses of COVID-19 vaccine accounted for 64.1% (66/103). Fever (98.1%, 101/103) was the most common symptom in these children, followed by cough/expectoration (63.1%, 65/103), gastrointestinal problems (37.9%, 39/103), loss of appetite (30.1%, 31/103), weakness (27.2%, 28/103), and nasal obstruction/runny nose (16.5%, 17/103). The follow-up at 1 month after discharge reported that 44 children (42.7%) had at least one persistent symptom, including respiratory symptoms in 14 children (13.6%) and gastrointestinal problems in 19 children (18.4%). The children whose primary caregivers received two or more doses of COVID-19 vaccine had a significantly shorter time to SARS-CoV-2 clearance than those whose primary caregivers did not receive or only received one dose of COVID-19 vaccine (P<0.05), while there was no significant difference between the two groups in the proportion of children with at least one persistent symptom (P>0.05). CONCLUSIONS: Nearly half of the preschool children may have related persistent symptoms after SARS-CoV-2 Omicron variant infection, mainly gastrointestinal and respiratory symptoms. Most of the symptoms may be mild, and continuous follow-up is needed to observe their outcomes. Vaccination of COVID-19 vaccine for primary caregivers has a certain protective effect on children.


Assuntos
COVID-19 , Masculino , Feminino , Humanos , Pré-Escolar , Criança , Lactente , Vacinas contra COVID-19 , Seguimentos , SARS-CoV-2 , Alta do Paciente , China
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