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1.
Plant Cell ; 34(10): 3702-3717, 2022 09 27.
Artículo en Inglés | MEDLINE | ID: mdl-35758611

RESUMEN

High temperatures interfere with meiotic recombination and the subsequent progression of meiosis in plants, but few genes involved in meiotic thermotolerance have been characterized. Here, we characterize a maize (Zea mays) classic dominant male-sterile mutant Ms42, which has defects in pairing and synapsis of homologous chromosomes and DNA double-strand break (DSB) repair. Ms42 encodes a member of the heat shock protein family, HSP101, which accumulates in pollen mother cells. Analysis of the dominant Ms42 mutant and hsp101 null mutants reveals that HSP101 functions in RADIATION SENSITIVE 51 loading, DSB repair, and subsequent meiosis. Consistent with these functions, overexpression of Hsp101 in anthers results in robust microspores with enhanced heat tolerance. These results demonstrate that HSP101 mediates thermotolerance during microsporogenesis, shedding light on the genetic basis underlying the adaptation of male meiocytes to high temperatures.


Asunto(s)
Termotolerancia , Zea mays , Emparejamiento Cromosómico , ADN/metabolismo , Proteínas de Choque Térmico/genética , Proteínas de Choque Térmico/metabolismo , Meiosis/genética , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Termotolerancia/genética , Zea mays/genética , Zea mays/metabolismo
2.
Lett Appl Microbiol ; 77(3)2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-37563083

RESUMEN

This study reports the antioxidant potential and L-asparaginase production of culturable fungal endophytes from Dendrobium orchids in Malaysia. Twenty-nine isolates were screened using the 2,2-diphenyl-1-picrylhydrazyl (DPPH) assay to determine their free radical scavenging activities and antioxidant capacity (IC50 and AEAC). L-asparaginase production of fungal endophytes was detected by the qualitative plate assay, and the enzyme activities estimated via the Nesslerization method. All 29 endophytic isolates exhibited various degrees of radical scavenging activities (35.37%-77.23%), with Fusarium fujikuroi (D1) identified as having the highest antioxidant capacity (IC50 6.097 mg/mL) and the highest AEAC value (11.55  mg/g). For L-asparaginase production, the majority of the isolates (89.66%) showed positive results, especially among the culturable species of Fusarium, Trichoderma, and Daldinia. Most Fusarium spp. were able to produce L-asparaginase (80.77%), but the highest L-asparaginase activity was detected in Daldinia eschscholtzii (D14) with 2.128 units/mL. Results from this study highlighted the potential of endophytic fungi from medicinal orchids (Dendrobium sp.) as natural sources of bioactive compounds to be developed into novel antioxidants and anticancer drugs.


Asunto(s)
Antineoplásicos , Dendrobium , Hongos , Asparaginasa , Antioxidantes/farmacología , Endófitos
3.
Int Microbiol ; 2023 Nov 17.
Artículo en Inglés | MEDLINE | ID: mdl-37975992

RESUMEN

This study characterized and identified the antimicrobial compounds from an endophytic fungus (Fusarium incarnatum (C4)) isolated from the orchid, Cymbidium sp. Chromatographic techniques were employed to separate the bioactive compounds from the crude extracts of F. incarnatum (C4). Following bio-guided fractionation, two fractionated extracts (fractions 1 and 2) of F. incarnatum (C4) exhibited antibacterial and antifungal activities against Bacillus cereus (MIC: 0.156 mg/mL) and Ganoderma boninense (MIC: 0.3125 mg/mL), respectively. The active fractions were discovered to comprise of a variety of bioactive compounds with pharmacological importance (alkaloids, flavonoids, phenolic compounds, terpenoids, peptides and fatty acids). Liquid chromatography mass-spectrometry (LCMS) analysis detected the presence of antibacterial (kanzonol N, rifaximin, linoleic acid (d4), cannabisativine, docosanedioic acid, and stearamide) and antifungal components (3-methyl-quinolin-2-ol, prothiocarb, kanzonol N, peganine, 5Z-tridecene, and tetronasin) in fractions 1 and 2, respectively, which may have contributed to the antimicrobial effects. Findings from this study highlighted the important potential of fungal endophytes from medicinal hosts as producers of antimicrobials and antibiotics.

4.
Antonie Van Leeuwenhoek ; 116(10): 1057-1072, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37597137

RESUMEN

A rare fungal endophyte, identified as Buergenerula spartinae (C28), was isolated from the roots of Cymbidium orchids and was characterised and evaluated for its antimicrobial activities. Bio-guided fractionation revealed 4 fractions from B. spartinae (C28) having antibacterial activities against at least one bacterial pathogen tested (Bacillus cereus and Staphylococcus aureus). However, inhibitory activities were absent against pathogenic fungi (Ganoderma boninense, Pythium ultimum and Fusarium solani). Fraction 2 and fraction 4 of B. spartinae (C28) exhibited potent antibacterial activities against S. aureus (MIC: 0.078 mg/mL) and B. cereus (MIC: 0.313 mg/mL), respectively. LCMS analysis revealed the presence of antibacterial agents and antibiotics in fraction 2 (benoxinate, pyropheophorbide A, (-)-ormosanine and N-undecylbenzenesulfonic acid) and fraction 4 (kaempferol 3-p-coumarate, 6-methoxy naphthalene acetic acid, levofuraltadone, hinokitiol glucoside, 3-α(S)-strictosidine, pyropheophorbide A, 5'-hydroxystreptomycin, kanzonol N and 3-butylidene-7-hydroxyphthalide), which may be responsible for the antibacterial activities observed. Most of the bioactive compounds profiled from the antibacterial fractions were discovered for the first time from endophytic isolates (i.e. from B. spartinae (C28)). Buergenerula spartinae (C28) from Cymbidium sp. is therefore, an untapped resource of bioactive compounds for potential applications in healthcare and commercial industries.


Asunto(s)
Antiinfecciosos , Ascomicetos , Staphylococcus aureus , Antiinfecciosos/farmacología , Antibacterianos/farmacología
5.
J Med Genet ; 59(9): 840-849, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34544842

RESUMEN

BACKGROUND: A large number of new causative and risk genes for amyotrophic lateral sclerosis (ALS) have been identified mostly in patients of European ancestry. In contrast, we know relatively little regarding the genetics of ALS in other ethnic populations. This study aims to provide a comprehensive analysis of the genetics of ALS in an unprecedented large cohort of Chinese mainland population and correlate with the clinical features of rare variants carriers. METHODS: A total of 1587 patients, including 64 familial ALS (FALS) and 1523 sporadic ALS (SALS), and 1866 in-house controls were analysed by whole-exome sequencing and/or testing for G4C2 repeats in C9orf72. Forty-one ALS-associated genes were analysed. FINDINGS: 155 patients, including 26 (40.6%) FALS and 129 (8.5%) SALS, carrying rare pathogenic/likely pathogenic (P/LP) variants of ALS causative genes were identified. SOD1 was the most common mutated gene, followed by C9orf72, FUS, NEK1, TARDBP and TBK1. By burden analysis, rare variants in SOD1, FUS and TARDBP contributed to the collective risk for ALS (p<2.5e-6) at the gene level, but at the allelic level TARDBP p.Gly294Val and FUS p.Arg521Cys and p.Arg521His were the most important single variants causing ALS. Clinically, P/LP variants in TARDBP and C9orf72 were associated with poor prognosis, in FUS linked with younger age of onset, and C9orf72 repeats tended to affect cognition. CONCLUSIONS: Our data provide essential information for understanding the genetic and clinical features of ALS in China and for optimal design of genetic testing and evaluation of disease prognosis.


Asunto(s)
Esclerosis Amiotrófica Lateral , Esclerosis Amiotrófica Lateral/epidemiología , Esclerosis Amiotrófica Lateral/genética , Proteína C9orf72/genética , Estudios de Cohortes , Predisposición Genética a la Enfermedad , Humanos , Mutación/genética , Superóxido Dismutasa-1/genética
6.
Int J Urol ; 30(8): 666-671, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37150512

RESUMEN

OBJECTIVES: To report a novel corporoplasty technique with a urethral plate flap in hypospadias repair and evaluate its safety and efficacy for ventral lengthening. METHODS: Data were retrospectively collected from consecutive patients with hypospadias who underwent urethral plate flap corporoplasty between July 2021 and March 2022. All patients underwent hypospadias repair using the Duckett technique. The corporoplasty procedure involved the following key steps: the half-spongiosum of the urethral plate was harvested as a flap (with a pedicle attached to the corpus cavernosum); a transverse incision of the tunica albuginea was made adjacent to the pedicle; and the flap was patched onto the corporal defect. RESULTS: The study included 10 patients, with a median age of 20 months. The initial meatal location was penile in two patients, penoscrotal in four patients, and scrotal in four patients. The median ventral curvature was 45° after degloving and urethral plate transection. The median ventral lengthening distance proportional to penis length was 0.21. During the median follow-up of 13.8 months, complications occurred in three cases, including two cases of fistula and one case of urethral stricture with secondary diverticulum. No cases of recurrent ventral curvature, meatal stenosis, or urethral dehiscence were noted. Postoperative ultrasonography showed a good continuation of the tunica albuginea and integrity of the stratum spongiosum at the corporoplasty site. CONCLUSIONS: Urethral plate flap corporoplasty is a simple and effective ventral lengthening procedure. The novel corporoplasty technique allows for anatomical and architectural repair of corporal disproportion.


Asunto(s)
Hipospadias , Procedimientos de Cirugía Plástica , Estrechez Uretral , Masculino , Humanos , Lactante , Hipospadias/cirugía , Estudios Retrospectivos , Procedimientos Quirúrgicos Urológicos Masculinos/efectos adversos , Procedimientos Quirúrgicos Urológicos Masculinos/métodos , Uretra/cirugía , Procedimientos de Cirugía Plástica/efectos adversos , Pene/cirugía , Estrechez Uretral/cirugía , Resultado del Tratamiento
7.
J Food Sci Technol ; 60(12): 2978-2989, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37786603

RESUMEN

Fresh food products are highly prone to oxidation and microbial attack, rendering them unsuitable for consumption. Thus, active food packaging was developed to protect and prolong food shelf-life. Zein/gellan gum (GG) based active film is developed by incorporating rosemary oleoresin extract (ROE) (0-20%). The films were characterized by their barrier and antioxidant properties. The release behavior of ROE in fatty and hydrophilic food stimulants was investigated via mathematical modeling. The active films incorporated with 20% ROE have significantly higher oxygen barrier and oxygen transfer is reduced by 20% compared to the control. A tortuous path is created with ROE, which impedes oxygen movement across the film. ROE addition improved water resistance performance by reducing the active film swelling ratio by 31%. This improvement is attributed to the hydrophobic nature of ROE. FTIR shows that the interaction between ROE and the active film is primarily hydrogen bonding and electrostatic interactions. Active film exhibits excellent antioxidant activity, with high TPC, DPPH scavenging activity, and FRAP. Mathematical modeling revealed a higher diffusivity (D) of ROE in fatty food stimulants at 24 °C, attributed to high polarity and solubility in fatty food stimulants. Overall, this active film has an excellent antioxidant effect and could potentially be used as food packaging for high-fat food products to prevent oxidation.

8.
Small ; 18(1): e2103852, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34766728

RESUMEN

Aiming at regulating and controlling the localized electronic states while maintaining the metal atoms in the isolation form, an in situ adsorbate induced strategy is proposed at a programmed temperature to activate Zr-based metal-organic framework (MOF) supported single Pd atom catalyst. It is discovered that in situ treatment environments trigger the change of lattice parameters in MOF materials by reaction heat effect, observed by in situ X-ray diffraction, spherical aberration-corrected electron microscope, and X-ray adsorption fine structure (XAFS). The as-obtained electron-deficient Pd single atoms are critical to the high intrinsic activity (turnover frequency of 0.132 s-1 ) and selectivity of 93% with the long-term stability in the semihydrogenation of acetylene, which can be comparable to the state-of-the-art Pd catalysts. This superior catalytic behavior correlates with the reduced C2 H4 desorption energy and the activation barriers for the hydrogenation, confirmed by density functional theory calculation.

9.
Eur J Neurol ; 29(11): 3218-3228, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35861376

RESUMEN

BACKGROUND AND PURPOSE: Recent genetic progress has shown many causative/risk genes linked to Parkinson's disease (PD), mainly in patients of European ancestry. The study aimed to investigate the PD-related genes and determine the mutational spectrum of early-onset PD in ethnic Chinese. METHODS: In this study, whole-exome sequencing and/or gene dosage analysis were performed in 704 early-onset PD (EOPD) patients (onset age ≤45 years) and 1866 controls. Twenty-six PD-related genes and 20 other genes linked to neurodegenerative and lysosome diseases were analysed. RESULTS: Eighty-two (11.6%, 82/704) EOPD patients carrying rare pathogenic/likely pathogenic variants in PD-related genes were identified. The mutation frequency in autosomal recessive inheritance EOPD (42.9%, 27/63) was much higher than that in autosomal dominant inheritance EOPD (0.9%, 12/110) or sporadic EOPD (8.1%, 43/531). Bi-allelic mutations in PRKN were the most frequent, accounting for 5.1% of EOPD cases. Three common pathogenic variants, p.A53V in SNCA, p.G284R in PRKN and p.P53Afs*38 in CHCHD2, occur exclusively in Asians. The putative damaging variants from GBA, PRKN, DJ1, PLA2G6 and GCH1 contributed to the collective risk for EOPD. Notably, the protein-truncating variants in CHCHD2 were enriched in EOPD, especially for p.P53Afs*38, which was also found in three patients from an independent cohort of patients with late-onset PD (n = 1300). Functional experiments confirmed that truncated CHCHD2 variants cause loss of function and are linked to mitochondrial dysfunction. CONCLUSIONS: Our study reveals that the genetic spectrum of EOPD in Chinese, which may help develop genetic scanning strategies, provided more evidence supporting CHCHD2 in PD.


Asunto(s)
Enfermedad de Parkinson , Edad de Inicio , Pueblo Asiatico/genética , China , Proteínas de Unión al ADN/genética , Humanos , Persona de Mediana Edad , Mutación , Enfermedad de Parkinson/genética , Factores de Transcripción/genética
10.
BMC Med ; 19(1): 27, 2021 02 05.
Artículo en Inglés | MEDLINE | ID: mdl-33541344

RESUMEN

BACKGROUND: Epidemiological and clinical studies have suggested comorbidity between amyotrophic lateral sclerosis (ALS) and autoimmune disorders. However, little is known about their shared genetic architecture. METHODS: To examine the relation between ALS and 10 autoimmune diseases, including asthma, celiac disease (CeD), Crohn's disease (CD), inflammatory bowel disease (IBD), multiple sclerosis (MS), psoriasis, rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), type 1 diabetes (T1D), and ulcerative colitis (UC), and identify shared risk loci, we first estimated the genetic correlation using summary statistics from genome-wide association studies, and then analyzed the genetic enrichment leveraging the conditional false discovery rate statistical method. RESULTS: We identified a significant positive genetic correlation between ALS and CeD, MS, RA, and SLE, as well as a significant negative genetic correlation between ALS and IBD, UC, and CD. Robust genetic enrichment was observed between ALS and CeD and MS, and moderate enrichment was found between ALS and UC and T1D. Thirteen shared genetic loci were identified, among which five were suggestively significant in another ALS GWAS, namely rs3828599 (GPX3), rs3849943 (C9orf72), rs7154847 (G2E3), rs6571361 (SCFD1), and rs9903355 (GGNBP2). By integrating cis-expression quantitative trait loci analyses in Braineac and GTEx, we further identified GGNBP2, ATXN3, and SLC9A8 as novel ALS risk genes. Functional enrichment analysis indicated that the shared risk genes were involved in four pathways including membrane trafficking, vesicle-mediated transport, ER to Golgi anterograde transport, and transport to the Golgi and subsequent modification. CONCLUSIONS: Our findings demonstrate a specific genetic correlation between ALS and autoimmune diseases and identify shared risk loci, including three novel ALS risk genes. These results provide a better understanding for the pleiotropy of ALS and have implications for future therapeutic trials.


Asunto(s)
Esclerosis Amiotrófica Lateral/genética , Enfermedades Autoinmunes/genética , Estudio de Asociación del Genoma Completo , Artritis Reumatoide/genética , Enfermedad Celíaca/genética , Colitis Ulcerosa/genética , Enfermedad de Crohn/genética , Diabetes Mellitus Tipo 1/genética , Predisposición Genética a la Enfermedad , Humanos , Lupus Eritematoso Sistémico/genética , Esclerosis Múltiple/genética , Polimorfismo de Nucleótido Simple , Psoriasis/genética , Sitios de Carácter Cuantitativo
11.
Plant Physiol ; 184(4): 1979-1997, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33020253

RESUMEN

Temperature is a major factor regulating plant growth. To reproduce at extreme temperatures, plants must develop normal reproductive organs when exposed to temperature changes. However, little is known about the underlying molecular mechanisms. Here, we identified the maize (Zea mays) mutant thermosensitive vanishing tassel1-R (tvt1-R), which lacks tassels at high (restrictive) temperatures due to shoot apical meristem (SAM) arrest, but forms normal tassels at moderate (permissive) temperatures. The critical stage for phenotypic conversion in tvt1-R mutants is V2 to V6 (Vn, where "n" is the number of leaves with collars visible). Positional cloning and allelism and complementation tests revealed that a G-to-A mutation causing a Arg277-to-His277 substitution in ZmRNRL1, a ribonucleotide reductase (RNR) large subunit (RNRL), confers the tvt1-R mutant phenotype. RNR regulates the rate of deoxyribonucleoside triphosphate (dNTP) production for DNA replication and damage repair. By expression, yeast two-hybrid, RNA sequencing, and flow cytometric analyses, we found that ZmRNRL1-tvt1-R failed to interact with all three RNR small subunits at 34°C due to the Arg277-to-His277 substitution, which could impede RNR holoenzyme (α2ß2) formation, thereby decreasing the dNTP supply for DNA replication. Decreased dNTP supply may be especially severe for the SAM that requires a continuous, sufficient dNTP supply for rapid division, as demonstrated by the SAM arrest and tassel absence in tvt1-R mutants at restrictive temperatures. Our study reveals a novel mechanism of temperature-gated tassel formation in maize and provides insight into the role of RNRL in SAM maintenance.


Asunto(s)
Aclimatación/genética , Inflorescencia/crecimiento & desarrollo , Inflorescencia/metabolismo , Ribonucleósido Difosfato Reductasa/genética , Ribonucleósido Difosfato Reductasa/metabolismo , Temperatura , Zea mays/crecimiento & desarrollo , Zea mays/genética , Productos Agrícolas/genética , Productos Agrícolas/crecimiento & desarrollo , Regulación de la Expresión Génica de las Plantas , Variación Genética , Genotipo , Magnoliopsida/genética , Magnoliopsida/crecimiento & desarrollo , Meristema/genética , Meristema/crecimiento & desarrollo , Mutación , Mutación Missense/fisiología
12.
J Recept Signal Transduct Res ; 41(5): 466-475, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32985331

RESUMEN

Protection against renal fibrosis is important for the management of obstructive nephropathy. We researched the roles and possible mechanism of miR-155-5p in renal interstitial fibrosis, which may provide a potential endogenous target for renal interstitial fibrosis in obstructive nephropathy. Herein, NRK-49F cells were transfected with miR-155-5p mimic, miR-155-5p inhibitor, SIRT1 plasmid and/or SIRT1 siRNA. The unilateral ureteral obstruction (UUO) model was built with male C57 black mice and administrated with SRT1720 by tail vein injection. Levels of miR-155-5p, SIRT1 and relative proteins (TGF-ß1, α-SMA, Collage I and fibronectin) in NRK-49F cells or mice kidney tissues were measured with quantitative reverse transcription polymerase chain reaction or Western blot. The target gene of miR-155-5p was analyzed through TargetScan and dual-luciferase reporter assay. Mice kidney tissue was stained with Masson trichrome. It was found that miR-155-5p overexpression promoted the expressions of fibroblast related proteins expression and inhibited the SIRT1 expression in NRK-49F cells, while miR-155-5p silencing had an opposite effect. SIRT1 can bind with miR-155-5p. MiR-155-5p inhibited the level of SIRT1. Fibroblast related proteins were up-regulated by miR-155-5p and down-regulated by SIRT1 in NRK-49F cells, while the up-regulatory effect of miR-155-5p was reversed by SIRT1. MiR-155-5p expression was up-regulated and SIRT1 expression was down-regulated in the kidney tissue of UUO mice. SRT1720 attenuated the fiber deposition, up-regulated SIRT1 level and down-regulated the levels of fibroblast related proteins in UUO model mice. To conclude, miR-155-5p promotes renal interstitial fibrosis in obstructive nephropathy via inhibiting SIRT1 signaling pathway.


Asunto(s)
Fibrosis/patología , Regulación de la Expresión Génica , Enfermedades Renales/patología , MicroARNs/genética , Sirtuina 1/antagonistas & inhibidores , Obstrucción Ureteral/fisiopatología , Animales , Apoptosis , Proliferación Celular , Células Cultivadas , Fibrosis/etiología , Fibrosis/metabolismo , Enfermedades Renales/etiología , Enfermedades Renales/metabolismo , Masculino , Ratones , Ratones Endogámicos C57BL , Sirtuina 1/genética , Sirtuina 1/metabolismo
13.
BMC Neurol ; 21(1): 181, 2021 Apr 28.
Artículo en Inglés | MEDLINE | ID: mdl-33910524

RESUMEN

BACKGROUND: Camptocormia is common in patients with multiple system atrophy (MSA). The current study was aimed at assessing the frequency of camptocormia and its related factors in MSA patients with different disease durations. Also, the impact of camptocormia on disability was evaluated. METHODS: A total of 716 patients were enrolled in the study. They were classified into three groups based on disease duration (≤ 3, 3-5, ≥ 5 years). Specific scales were used to evaluate the motor and non-motor symptoms. Disease severity was assessed using the Unified Multiple System Atrophy Rating Scale (UMSARS). The binary logistic regression model was used to explore the factors related to camptocormia. To analyze the impact of camptocormia on disability in patients with disease duration less than 5 years, propensity score matching (PSM) and stratified Cox regression analysis were used. RESULTS: In the current study, we found that the frequency of camptocormia was 8.9, 19.7 and 19.2% when the disease duration was ≤3, 3-5, ≥ 5 years, respectively. In the disease duration ≤3 years group, we found that MSA-parkinsonian subtype (MSA-P) (OR = 2.043, P = 0.043), higher total UMSARS score (OR = 1.063, P < 0.001), older age of onset (OR = 1.047, P = 0.042), and lower score on the frontal assessment battery (FAB) (OR = 0.899, P = 0.046) were associated with camptocormia. Only greater disease severity was associated with camptocormia in the group of patients with disease duration 3-5 years (OR = 1.494, P = 0.025) and in the group of patients with disease duration ≥5 years (OR = 1.076, P = 0.005). There was no significant impact of camptocormia on disability in patients with a disease duration of < 5 years (HR = 0.687, P = 0.463). CONCLUSION: The frequency of camptocormia increased with prolonged disease duration. Disease severity was related to camptocormia at different stages of the disease. The MSA-P subtype, older age of onset, and lower FAB score were associated with camptocormia in the early stage of the disease.


Asunto(s)
Atrofia de Múltiples Sistemas/complicaciones , Atrofia Muscular Espinal/etiología , Curvaturas de la Columna Vertebral/etiología , Edad de Inicio , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Atrofia Muscular Espinal/epidemiología , Factores de Riesgo , Índice de Severidad de la Enfermedad , Curvaturas de la Columna Vertebral/epidemiología
14.
BMC Neurol ; 20(1): 2, 2020 Jan 03.
Artículo en Inglés | MEDLINE | ID: mdl-31900114

RESUMEN

BACKGROUND: Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families referred to our center with ARHSP in a Chinese population. METHODS: Targeted next-generation sequencing was performed on the patients to identify disease-causing mutations. Variants were analyzed according to their predicted pathogenicity and their relevance to the clinical phenotypes. The segregation in the family members was validated by Sanger sequencing. RESULTS: A total of 12 mutations in SPG11 gene from 9 index cases were identified, including 6 frameshift mutations, 3 missense mutations, 1 nonsense mutation, 1 splicing mutation, and 1 intron deletion mutation. In 6 of these patients, the mutations were homozygous, and the other 3 patients carried two compound heterozygous mutations. Six mutations were novel; 2 were classified as pathogenic, 1 were considered as likely pathogenic, and the other 3 were variants of unknown significance. Additionally, 1 missense heterozygous variant we found was also carried by amyotrophic lateral sclerosis (ALS) patient. Clinically and electrophysiologically, some of our ARHSP patients partially shared various features of autosomal-recessive juvenile amyotrophic lateral sclerosis (ARJALS), including combination of both UMN and LMN degeneration. CONCLUSIONS: The results contribute to extending of the SPG11 gene mutation spectrum and emphasizing a putative link between ARHSP and ARJALS.


Asunto(s)
Pueblo Asiatico/genética , Genes Recesivos/genética , Proteínas/genética , Paraplejía Espástica Hereditaria , Adolescente , Adulto , Niño , China , Femenino , Humanos , Masculino , Mutación/genética , Paraplejía Espástica Hereditaria/genética , Paraplejía Espástica Hereditaria/fisiopatología , Adulto Joven
15.
Urol Int ; 104(11-12): 878-883, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32966996

RESUMEN

PURPOSE: Testicular torsion (TT) is a serious surgical emergency. Prompt diagnosis and treatment of TT are essential to improve the incidence of salvaged testes. The aim of this study was to evaluate the historical features, physical examination findings, laboratory tests, and ultrasound examinations in children with TT, as well as to identify the predictors of testicular salvage in children. MATERIALS AND METHODS: We retrospectively reviewed the records of 136 males who presented with TT to our institution. Clinical findings, physical examinations, laboratory data, color Doppler ultrasound findings, operating results, and the results of follow-up were collected and analyzed. Patients with neonatal torsion, negative scrotal exploration, or testicular appendix torsion were excluded. A multivariable logistic regression model was used to identify predictors of testicular salvage. Receiver operator characteristics analyses were performed to determine the probability of a non-salvageable torsed testis based on time and degree of twisting. RESULTS: A total of 136 children with TT were identified. Patients were aged from 1 to 16 years, with a mean age of 9.7 years (median, 12; range, 1-16 years). The peak incidences of TT were found between ages of 12 and 14 years. Acute TT is significantly more common in the winter. Testicular salvage occurred in 49 (36%) cases. Of the 49 cases of testicular salvage, 5 patients developed subsequent testicular atrophy. Cutoff values of 13.5 h and 530 degrees of torsion would provide sensitivities of 96 and 61%, with specificity of 80 and 70%, respectively. Multivariate analysis showed that time to surgery and degree of testicular twist were correlated with the risk of a non-salvageable testis. CONCLUSIONS: Testicular salvage can be predicted by the duration of symptoms along with degree of twisting. Early scrotal exploration based on careful physical examination decreases the risk of misdiagnosis of spermatic cord torsion. A certain percentage of children with TT presenting with lower abdominal pain should have their testicles checked to make sure that they do not have torsion, especially those visitors in cold season.


Asunto(s)
Torsión del Cordón Espermático/diagnóstico , Torsión del Cordón Espermático/cirugía , Adolescente , Niño , Preescolar , Humanos , Lactante , Masculino , Pronóstico , Estudios Retrospectivos
16.
Zhongguo Zhong Yao Za Zhi ; 45(13): 3063-3072, 2020 Jul.
Artículo en Zh | MEDLINE | ID: mdl-32726012

RESUMEN

Ginkgo biloba and Panax notoginseng are both herb medicines for cerebrovascular disease, and play an active role in treating ischemic cerebrovascular disease(ICVD). Their mechanisms of action include antioxidant stress, nerve protection, vascular protection. According to the comparative study of literatures, G. biloba has a certain protective effect from the early stage of free radical formation throughout the whole process of causing cell inflammation and apoptosis in antioxidant stress; while P. notoginseng has mainly anti-inflammatory, anti-apoptosis effects. In the nerve protection and repair of nerve damage caused by glutamate, both could promote neurogenesis, repair damaged axons and protect nerve cells. In addition, G. biloba could also relieve neurotoxicity caused by glutamate damage, while P. notoginseng have a unique effect in repairing blood-brain barrier(BBB) and blood vessel regeneration. In clinic, they are used as auxiliary drugs in combination with thrombolytic therapy, and play curative effects in alleviating inflammation, eliminating edema, improving the cure rate and the prognosis. For cerebral diseases caused by chronic cerebral hypoperfusion, G. biloba could reduce inflammation and improve cognition. In addition, G. biloba could protect neurocyte by adjusting the secretion of dopamine in vivo, and has a certain effect on antidepressant diseases, which however needs further studies.


Asunto(s)
Isquemia Encefálica/tratamiento farmacológico , Panax notoginseng , Plantas Medicinales , Ginkgo biloba , Humanos , Fitoterapia , Extractos Vegetales/uso terapéutico
17.
Int J Syst Evol Microbiol ; 68(8): 2424-2430, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-29916796

RESUMEN

A Gram-stain-positive strain, BS-W1T, was isolated from a traditional fermented ma bamboo shoots (Dendrocalamus latiflorus Munro) product of Taiwan. It was rod-shaped, non-motile, non-haemolytic, asporogenous, facultatively anaerobic, heterofermentative and did not exhibit catalase or oxidase activities. Comparative analysis of 16S rRNA, pheS, rpoA and gyrB gene sequences demonstrated that the novel strain BS-W1T was a member of the genus Lactobacillus. On the basis of 16S RNA gene sequence similarity, the type strains of Lactobacillus oryzae (94.4 % similarity), Lactobacillus acidifarinae (93.8 %), Lactobacillus namurensis (93.7 %) and Lactobacillus zymae (93.7 %) were the closest neighbours to strain BS-W1T. The pheS, rpoA and gyrB gene sequence similarities of strain BS-W1T to closely related these species were less than 80.2 %. DNA-DNA reassociation values with these type strains were 21.0-33.8 %. The DNA G+C content was 46.6 mol%. The average nucleotide identity values between BS-W1T and the closest relatives were lower than 70 %. Phenotypic and genotypic features demonstrated that the strain represents a novel species of the genus Lactobacillus, for which the name Lactobacillus bambusae sp. nov. is proposed. The type strain is BS-W1T (=BCRC 80970T=NBRC 112377T).


Asunto(s)
Alimentos Fermentados/microbiología , Microbiología de Alimentos , Lactobacillus/clasificación , Verduras/microbiología , Técnicas de Tipificación Bacteriana , Composición de Base , ADN Bacteriano/genética , Fermentación , Genes Bacterianos , Lactobacillus/genética , Lactobacillus/aislamiento & purificación , Hibridación de Ácido Nucleico , Filogenia , ARN Ribosómico 16S/genética , Análisis de Secuencia de ADN , Taiwán
18.
Acta Pharmacol Sin ; 39(3): 405-414, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28880012

RESUMEN

GOLPH2 (also called GP73) is a Golgi glycoprotein, which has been identified as a novel tumor marker upregulated in various cancers, including prostate cancer (PCa). GD55 is a novel GOLPH2-regulated oncolytic adenovirus that exhibits a strong killing effect on hepatoma cells. Here, we investigate the antitumor effect of GD55 on prostate cancer stem cell (CSC)-like cells in vitro and in vivo. Prostate CSC-like sphere cells were acquired and enriched by culturing DU145, LNCap or P3 prostate cancer cells in suspension. The prostate CSC-like sphere cells were capable of self-renewal, differentiation and quiescence, displaying tumorigenic feature and chemo-resistance to 5-FU, doxorubicin and DDP. Treatment with GD55 (1, 5, 10 MOI) dose-dependently suppressed the viability of DU145 sphere cells, which was a more pronounced compared to its cytotoxic action on the parental DU145 cells. In a mouse xenograft prostate CSC-like model, intratumoral injection of GD55 markedly suppressed the growth rate of xenograft tumors and induced higher levels of cell death and necrosis within the tumor tissues. Our results demonstrate that GD55 infection exerts strong anticancer effects on prostate CSC-like cells in vitro and in vivo, and has a potential to be used in the clinical therapy of PCa.


Asunto(s)
Adenoviridae , Proteínas de la Membrana/biosíntesis , Células Madre Neoplásicas/virología , Virus Oncolíticos , Animales , Apoptosis , Línea Celular Tumoral , Femenino , Humanos , Masculino , Ratones , Viroterapia Oncolítica/métodos , Próstata/patología , Ensayos Antitumor por Modelo de Xenoinjerto
19.
Int J Urol ; 25(7): 649-653, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29717506

RESUMEN

OBJECTIVES: To find a new appropriate evaluation for urethral plate quality in hypospadias repair, with particular interest in the width proportion of the urethral plate to the glans, serving as an appraisal index. METHODS: Data were prospectively collected from prepubertal boys who underwent primary tubularized incised plate hypospadias repair between January 2014 and April 2016 in one center. Intrinsic parameters of the penis (meatal location, glans width, urethral plate width and curvature degree) were measured during the operation. Urethroplasty complications were recorded during follow up. The correlation between width proportion of the urethral plate to the glans and urethroplasty complications was analyzed. RESULTS: Primary tubularized incised plate repair was carried out in 442 patients (mean age 2.8 years, range 0.5-12 years). At mean follow up of 26 months (range 12-38 months), urethroplasty complications occurred in 59 (13.3%) patients. The width proportion of the urethral plate to the glans was weakly correlated to both the glans width and meatal location. The width proportion of the urethral plate to the glans ranged from 0.18 to 0.73, with a mean of 0.39. The cut-off value of width proportion of the urethral plate to the glans was determined to be 0.36 by the receiver operating characteristic curve. Urethroplasty complications occurred in 17 out of 254 patients (6.7%) with width proportion of the urethral plate to the glans >0.36, and 42 out of 188 patients (22.3%) with width proportion of the urethral plate to the glans ≤0.36. The width proportion of the urethral plate to the glans ≤0.36 showed an increased odds of 4.819-fold (95% confidence interval 2.548-9.112, P < 0.001) risk of urethroplasty complications compared with width proportion of the urethral plate to the glans >0.36. Midshaft and proximal meatal location also increased the risk of urethroplasty complications. CONCLUSIONS: The present study highlights the value of the width proportion of the urethral plate to the glans for objectivity and accuracy in urethral plate evaluation, which in turn serves as an independent factor influencing outcomes in tubularized incised plate repair.


Asunto(s)
Hipospadias/cirugía , Pene/cirugía , Procedimientos de Cirugía Plástica/métodos , Uretra/trasplante , Procedimientos Quirúrgicos Urológicos Masculinos/métodos , Niño , Preescolar , Estudios de Seguimiento , Humanos , Lactante , Masculino , Pene/anomalías , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Estudios Prospectivos , Procedimientos de Cirugía Plástica/efectos adversos , Colgajos Quirúrgicos/trasplante , Resultado del Tratamiento , Uretra/anomalías , Procedimientos Quirúrgicos Urológicos Masculinos/efectos adversos
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