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1.
Nanotechnology ; 2024 Jul 02.
Artículo en Inglés | MEDLINE | ID: mdl-38958023

RESUMEN

This study employs cold-wall chemical vapor deposition to achieve the growth of MoTe2thin films on 4-inch sapphire substrates. A two-step growth process is utilized, incorporating MoO3and Te powder sources under low-pressure conditions to synthesize MoTe2. The resultant MoTe2thin films exhibit a dominant 1T' phase, as evidenced by a prominent Raman peak at 161 cm-1. This preferential 1T' phase formation is attributed to controlled manipulation of the second-step growth temperature, essentially the reaction stage between Te vapor and the pre-deposited MoOx layer. Under these optimized growth conditions, the thickness of the continuous 1T'-MoTe2films can be precisely tailored within the range of 3.5 - 5.7 nm (equivalent to 5 - 8 layers), as determined by atomic force microscopy depth profiling. Hall-effect measurements unveil a typical hole concentration and mobility of 0.2 cm2/V-s and 7.9 × 1021cm-3, respectively, for the synthesized few-layered 1T'-MoTe2 films. Furthermore, Ti/Al bilayer metal contacts deposited on the few-layered 1T'-MoTe2films exhibit low specific contact resistances of approximately 1.0 × 10-4Ω-cm2estimated by the transfer length model. This finding suggests a viable approach for achieving low ohmic contact resistance using the 1T'-MoTe2intermediate layer between metallic electrodes and two-dimensional semiconductors.

2.
Dig Dis Sci ; 69(5): 1755-1761, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38483780

RESUMEN

OBJECTIVE: To investigate the safety and prognosis of enbloc or piecemeal removal after enbloc resection of a gastric GIST by comparing the clinical data of endoscopic en block resection and piecemeal removal (EP) and en block resection and complete removal (EC) of gastric GISTs. METHODS: A total of 111 (43 endoscopic piecemeal, and 68 complete removal) patients with gastric GIST's ≥ 2 cm in diameter who underwent endoscopic therapy from January 2016 to June 2020 at the First Affiliated Hospital of Zhengzhou University were retrospectively analyzed. In all cases, it was ensured that the tumor was intact during the resection, however, it was divided into EP group and EC group based on whether the tumor was completely removed or was cut into pieces which were then removed. The patients' recurrence-free survival rate and recurrence-free survival (RFS) were recorded. RESULTS: There was no statistically significant difference in RFS rates between the two groups (P = 0.197). The EP group had relatively high patient age, tumor diameter, risk classification, and operation time. However, there was no statistically significant difference in the number of nuclear fission images, postoperative hospitalization time, postoperative fasting time, complication rate and complication grading between the two groups (P > 0.05). CONCLUSION: Endoscopic piecemeal removal after en block resection of gastric GIST is safe and effective and achieves similar clinical outcomes as complete removal after en block resection.


Asunto(s)
Tumores del Estroma Gastrointestinal , Humanos , Tumores del Estroma Gastrointestinal/cirugía , Tumores del Estroma Gastrointestinal/patología , Femenino , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Anciano , Neoplasias Gástricas/cirugía , Neoplasias Gástricas/patología , Adulto , Resultado del Tratamiento , Gastroscopía/métodos
3.
J Sep Sci ; 47(1): e2300545, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38234026

RESUMEN

Pseudoallergy is a typical and common adverse drug reaction to injections, especially in traditional Chinese medicine injections (TCMIs). At present, the evaluation methods for pseudoallergy include cell methods in vitro and animal methods in vivo. The mast cell evaluation method based on the ß-hexosaminidase (ß-Hex)-catalyzed substrate, 4-nitrophenyl-ß-N-acetyl-D-glucosaminide (4-NPG), is an important method for the evaluation of drug-induced pseudoallergy, but it is prone to false positive results and has insufficient sensitivity. In this study, a novel ß-Hex evaluation system with rat basophilic leukemia-2H3 cells based on high-performance liquid chromatography-fluorescence detection (HPLC-FLD) was established, which effectively increased the sensitivity and avoided false positive results. Cell viabilities were measured by 3-(4,5-dimethyl-2-thiazolyl)-2,5-diphenyl tetrazolium bromide assay. In addition, a method for the determination of histamine, which is another indicator in the development of pseudoallergy, was established to validate the above method. The results of this novel method indicated that two TCMIs (Shuxuening injection and Shenqi Fuzheng injection), which were considered to be pseudoallergenic using 4-NPG, were not pseudoallergenic. Overall, the novel ß-Hex/HPLC-FLD evaluation system using Rat basophilic leukemia-2H3 cells established was effective and precise. It could be used for the evaluation of pseudoallergic reactions caused by TCMIs and other injections.


Asunto(s)
Medicamentos Herbarios Chinos , Leucemia , Ratas , Animales , Medicina Tradicional China , beta-N-Acetilhexosaminidasas , Inyecciones , Histamina
4.
Ren Fail ; 46(2): 2359033, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38836372

RESUMEN

OBJECTIVE: To determine the efficacy and safety of Astragalus combined with renin-angiotensin-aldosterone system (RAAS) blockers in treating stage III diabetic nephropathy (DN) by meta-analysis. METHODS: PubMed, Embase, Cochrane Library, Wiley, and Web of Science databases were searched for articles published between August 2007 and August 2022. Clinical studies on Astragalus combined with RAAS blockers for the treatment of stage III DN were included. Meta-analysis was performed by RevMan 5.1 and Stata 14.3 software. RESULTS: A total of 32 papers were included in this meta-analysis, containing 2462 patients from randomized controlled trials, with 1244 receiving the combination treatment and 1218 solely receiving RAAS blockers. Astragalus combined with RAAS blockers yielded a significantly higher total effective rate (TER) (mean difference [MD] 3.63, 95% confidence interval [CI] 2.59-5.09) and significantly reduced urinary protein excretion rate (UPER), serum creatinine (Scr), blood urine nitrogen (BUN) and glycosylated hemoglobin (HbAlc) levels. In subgroup analysis, combining astragalus and angiotensin receptor blocker significantly lowered fasting plasma glucose (FPG) and 24 h urinary protein (24hUTP) levels, compared with the combined astragalus and angiotensin-converting enzyme inhibitor treatment. Meanwhile, the latter significantly decreased the urinary microprotein (ß2-MG). Importantly, the sensitivity analysis confirmed the study's stability, and publication bias was not detected for UPER, BUN, HbAlc, FPG, or ß2-MG. However, the TER, SCr, and 24hUTP results suggested possible publication bias. CONCLUSIONS: The astragalus-RAAS blocker combination treatment is safe and improves outcomes; however, rigorous randomized, large-scale, multi-center, double-blind trials are needed to evaluate its efficacy and safety in stage III DN.


Renin-angiotensin-aldosterone system (RAAS) inhibitors are commonly used to treat diabetic neuropathy (DN) and Astragalus membranaceus components are known to improve DN symptoms.We aimed to establish the efficacy and safety of using Astragalus combined with RAAS inhibitors.Astragalus combined with RAAS inhibitors enhances the total effective rate of diabetic neuropathy response to treatment and reduces urinary protein excretion rate, serum creatinine, blood urea nitrogen and HbAlc.Sensitivity analysis affirms study stability, while publication bias was detected for total effective rate, serum creatinine, and 24 h urinary protein levels.


Asunto(s)
Antagonistas de Receptores de Angiotensina , Inhibidores de la Enzima Convertidora de Angiotensina , Nefropatías Diabéticas , Quimioterapia Combinada , Sistema Renina-Angiotensina , Humanos , Nefropatías Diabéticas/tratamiento farmacológico , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Sistema Renina-Angiotensina/efectos de los fármacos , Antagonistas de Receptores de Angiotensina/uso terapéutico , Planta del Astrágalo , Ensayos Clínicos Controlados Aleatorios como Asunto , Medicamentos Herbarios Chinos/uso terapéutico , Medicamentos Herbarios Chinos/administración & dosificación , Resultado del Tratamiento , Creatinina/sangre , Hemoglobina Glucada , Proteinuria/tratamiento farmacológico
5.
Inorg Chem ; 62(1): 401-407, 2023 Jan 09.
Artículo en Inglés | MEDLINE | ID: mdl-36537348

RESUMEN

The first mixed-valence nanocluster CuI/CuII with the highest percentage of CuII ions was synthesized by using 4-tert-butylcalix[4]arene (Calix4), with the formula DMF2⊂[(CO3)2-@CuII6CuI3(Calix4)3Cl2(DMF)5(H3O)]•DMF (1), as a photothermal nanocluster. Its structure was characterized using single-crystal X-ray diffraction, Fourier-transform infrared spectroscopy, and powder X-ray diffraction. In addition, the charge state and chemical composition of the nanocluster were determined using electrospray ionization spectrometry and X-ray photoelectron spectroscopy (XPS) spectrum. The results of the XPS and X-ray crystallography revealed that there are two independent CuII and CuI centers in nanocluster 1 with the relative abundances of 66.6 and 33.3% for CuII and CuI, respectively. The nanocluster contains three four-coordinated CuI ions with a square-planar geometry and six five-coordinated CuII ions with a square pyramid geometry. The nanocluster shows strong near-infrared optical absorption in the solid state and excellent photothermal conversion ability (the equilibrium temperature ∼78.2 °C) with the light absorption centers in 286-917 nm over previous reported pentanucleus CuI4CuII clusters and CuII compounds.

6.
Inorg Chem ; 61(42): 16693-16698, 2022 Oct 24.
Artículo en Inglés | MEDLINE | ID: mdl-36239444

RESUMEN

The synthesis of nanoclusters from simple structural units is usually a challenging process because of the complexity and unpredictability of the self-assembly process of these types of compounds. Herein, two new neutral 19-nuclearity silver nanoclusters based on alkynyl ligands with the formulas [(CrO4)@Ag19(C≡CtBu)8(Ph2PO2)6(tfa)3(CH3OH)2] (1) and [(SO4)@Ag19(C≡CtBu)8(Ph2PO2)6(tfa)3(CH3OH)2] (2), in which tfa = trifluoroacetate, were synthesized, and their structures were investigated by single-crystal and powder X-ray diffraction, electrospray ionization mass spectrometry, elemental analyses, and Fourier transform infrared spectroscopy. The surface ligands of Ph2PO2H and trifluoroacetate were assembled through hydrogen bonding, metal-aromatic interactions, and coordination bonding around 19 silver atoms as the metal skeletons of the nanoclusters. Sulfate and chromate anions, as a template within the metal skeleton of clusters through bonding with silver atoms, stabilized the structure. In addition, the UV-vis absorption spectroscopy, luminescence properties, and thermal stability of the nanoclusters were investigated.

7.
Clin Lab ; 68(3)2022 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-35254038

RESUMEN

BACKGROUND: Over past decades, the instability of parathyroid hormone (PTH) causes great interference for the clinical laboratory. Contradictory results were reported in many reports about storage conditions and suitable blood collection tubes to ensure PTH stability in the pretreatment phase. METHODS: This study recruited 30 participants including 10 healthy persons, 10 hemodialysis, and 10 hyperparathyroidism patients. Five types of blood collection tubes (EDTA-K3 tube, coagulant tube, heparin anticoagulant tube, gel separating tube, and plain tube) were included to determine whether they were suitable as blood-collecting vessels. The time points and conditions for testing samples included less than 2 hours, 4 hours, and 8 hours at room temperature, and, in parallel, 24 hours, 48 hours, and 72 hours in refrigeration. Two different judgement criteria were used to compare the stability of PTH in different blood vessels. RESULTS: Purely statistical analysis showed that 4 types of blood collection tubes could not perform the same storage ability as EDTA-K3 tube at "T0" time point. Plain tube had the largest drop among all types of blood collection tubes. Compared by pairwise t-test, EDTA-K3 tube could maintain intact PTH for 8 hours (p = 0.998) at room temperature and 24 hours (p = 0.053) in refrigeration. When comparing the total change limit (TCL = 18.8%), at room temperature, EDTA-K3 tube (7.0%), heparin tube (12.7%), coagulant tube (16.2%), and plain tube (17.6%) could maintain intact PTH for 8 hours, and GST can preserve PTH for 4 hours (18.2%). In refrigeration, EDTA-K3 tube could maintain PTH for 72 hours (7.5%) and heparin tube could maintain 24 hours (18.4%). The other three blood collection tubes could not preserve PTH in refrigeration (GST = 22.1%, coagulant tube = 20.3%, plain tube = 20.8%). CONCLUSIONS: PTH seems more stable in the EDTA-K3 tube than any other blood collection tubes and is followed next by the heparin anticoagulant tube. Plain tube and GST have faster degradation than other tubes and are not suggested to preserve intact PTH.


Asunto(s)
Recolección de Muestras de Sangre , Hormona Paratiroidea , Anticoagulantes , Recolección de Muestras de Sangre/métodos , Ácido Edético , Pruebas Hematológicas/métodos , Humanos , Diálisis Renal
8.
Sensors (Basel) ; 22(21)2022 Oct 26.
Artículo en Inglés | MEDLINE | ID: mdl-36365901

RESUMEN

The growth models of total bacterial count in freshly squeezed strawberry juice were established by gas and taste sensors in this paper. By selecting the optimal sensors and fusing the response values, the Modified Gompertz, Logistic, Huang and Baranyi models were used to predict and simulate the growth of bacteria. The results showed that the R2 values for fitting the growth model of total bacterial count of the sensor S7 (an electronic nose sensor), of sweetness and of the principal components scores were 0.890-0.944, 0.861-0.885 and 0.954-0.964, respectively. The correlation coefficients, or R-values, between models fitted by the response values and total bacterial count ranged from 0.815 to 0.999. A single system of electronic nose (E-nose) or electronic tongue (E-tongue) sensors could be used to predict the total bacterial count in freshly squeezed strawberry juice during cold storage, while the higher rate was gained by the combination of these two systems. The fusion of E-nose and E-tongue had the best fitting-precision in predicting the total bacterial count in freshly squeezed strawberry juice during cold storage. This study proved that it was feasible to predict the growth of bacteria in freshly squeezed strawberry juice using E-nose and E-tongue sensors.


Asunto(s)
Nariz Electrónica , Fragaria , Carga Bacteriana , Gusto , Lengua
9.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(3): 285-289, 2022 Mar 15.
Artículo en Inglés, Zh | MEDLINE | ID: mdl-35351259

RESUMEN

OBJECTIVES: To study the efficacy and safety of domestic generic levetiracetam in replacement of brand-name levetiracetam in the treatment of children with epilepsy. METHODS: A retrospective analysis was performed on the medical data of 154 children with epilepsy who received domestic generic levetiracetam in the inpatient or outpatient service of Guangdong Provincial People's Hospital from May 2019 to December 2020. Domestic generic levetiracetam and brand-name levetiracetam were compared in terms of efficacy and safety. RESULTS: For these 154 children, the epilepsy control rate was 77.3% (119/154) at baseline. At 6 months after switching to domestic generic levetiracetam, the epilepsy control rate reached 83.8% (129/154), which showed a significant increase (P<0.05). There was no significant change in the frequency of seizures from baseline to 6 months after switching (P>0.05). The incidence of refractory epilepsy in children with no response after switching treatment was significantly higher than that in children with response (P<0.05). Before switching, only 1 child (0.6%) experienced somnolence, while after switching, 3 children (1.9%) experienced mild adverse drug reactions, including dizziness, somnolence, irritability, and bad temper. CONCLUSIONS: Switching from brand-name to generic levetiracetam is safe and effective and holds promise for clinical application, but more prospective randomized controlled trials are required in future.


Asunto(s)
Epilepsia , Niño , Epilepsia/tratamiento farmacológico , Humanos , Levetiracetam , Estudios Prospectivos , Estudios Retrospectivos , Convulsiones
10.
Chemistry ; 27(70): 17628-17636, 2021 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-34648677

RESUMEN

Improving the insufficient carrier separation dynamics is still of significance in carbon nitride (C3 N4 ) research. Extensive research has been devoted to improving the carrier separation efficiency through a single strategy, while ignoring the synergistic enhancement effect produced by coupling two or more conventional strategies. Herein, we reported the fabrication of cyano group-containing Fe-doped C3 N4 porous materials via direct co-calcination of iron acetylacetonate and melamine for synergistically improving the photocatalytic performance. Iron acetylacetonate can promote the generation of cyano groups and form Fe-doping in C3 N4 , thereby increasing the visible-light absorption and reactive sites. Further, the internal donor-acceptor system formed by cyano groups and Fe-doped sites promoted charge carrier separation and inhibited the radiation recombination of e- -h+ pairs. The optimized photocatalytic activity of Fe-CN-2 sample was 4.5 times of bulk C3 N4 (BCN).

11.
J Org Chem ; 86(21): 14476-14484, 2021 11 05.
Artículo en Inglés | MEDLINE | ID: mdl-34658239

RESUMEN

A simple and effective tandem reaction of diynones and allylic alcohols was developed to afford functionalized 3-allyl-4-pyrones in moderate to excellent yields. This protocol underwent a Michael addition─Claisen rearrangement─O-cyclization process, which exhibited broad substrate tolerance, high regioselectivity, and atom economy under a metal-free condition. Moreover, functional transformation of the products was also further studied.


Asunto(s)
Pironas , Catálisis , Ciclización , Estructura Molecular , Fosfinas
12.
J Org Chem ; 84(12): 8090-8099, 2019 06 21.
Artículo en Inglés | MEDLINE | ID: mdl-31140272

RESUMEN

Effective transition-metal-free formal [4+2] benzannulation for the preparation of 1-cyano-3-acylnaphthalenes from 2-(2-alkynylphenyl)acetonitriles and alkynones through sequential C-C bond coupling has been developed. This protocol is characterized by mild conditions, excellent functional group tolerance, complete regioselectivity, and atom economy. The plausible mechanism, gram-scale synthesis, and further transformations of the product were studied.

13.
Org Biomol Chem ; 17(32): 7461-7467, 2019 08 28.
Artículo en Inglés | MEDLINE | ID: mdl-31360970

RESUMEN

An effective transition-metal-free strategy was developed for the preparation of chromones from o-bromoaryl ynones and benzaldehyde oxime through sequential C-O bond formation. This cyclization reaction could well tolerate a wide range of functional groups, and the corresponding chromones were given in moderate to excellent yields. Mechanistically, benzaldehyde oxime as a hydroxide source and 1,3-diketone derivatives as reaction intermediates were involved in this transformation.

14.
Org Biomol Chem ; 17(11): 3003-3009, 2019 Mar 13.
Artículo en Inglés | MEDLINE | ID: mdl-30815652

RESUMEN

An effective and facile transition-metal-free method has been developed for the synthesis of ß-ketophosphine oxides from alkynylphosphine oxides with benzaldehyde oxime as a hydroxide surrogate. The current methodology provides simple access to various ß-ketophosphine oxides in moderate to excellent yields with a broad substrate scope.

15.
BMC Infect Dis ; 19(1): 57, 2019 Jan 16.
Artículo en Inglés | MEDLINE | ID: mdl-30651070

RESUMEN

BACKGROUND: After allogeneic haematopoietic stem cell transplantation (allo-HSCT), Hepatitis B virus reactivation (HBVr) can be observed in patients with previous resolved Hepatitis B virus (HBV) infections. Nephrotic syndrome (NS) is the main clinical manifestation of HBsAg-positive glomerulonephritis. However, the development of HBVr combined with NS after allo-HSCT is uncommon. CASE PRESENTATION: We presented a case of a 47-year-old female with acute myelogenous leukemia who underwent HLA-identical sibling allo-HSCT and achieved leukemia free survival. She had pretransplant serological markers of a resolved HBV infection (HBsAg-negative, anti-HBc and anti-HBs positive). However, she developed HBVr combined with nephrotic syndrome (NS) 16 months after HSCT. Her histological renal lesion was mesangial proliferative glomerulonephritis. IgA+, IgM+, and C1q deposits but not HBV antigens (HBsAg and HBcAg) were identified in her renal biopsy material. Long-term entecavir and immunosuppression resulted in decrease of HBV virus replication, amelioration of proteinuria and stabilisation of renal function. CONCLUSIONS: Entecavir combined with immunosuppression has efficacy in the treatment of HBVr combined with NS after allo-HSCT, but long course of treatment is needed. Closely monitoring and antiviral prophylaxis might be necessary for allo-HSCT recipients to prevent reactivation of resolved HBV infection and its related complications.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas/efectos adversos , Hepatitis B/tratamiento farmacológico , Hepatitis B/etiología , Síndrome Nefrótico/virología , Antivirales/uso terapéutico , Biomarcadores/sangre , Femenino , Glomerulonefritis/virología , Guanina/análogos & derivados , Guanina/uso terapéutico , Anticuerpos contra la Hepatitis B/sangre , Antígenos del Núcleo de la Hepatitis B/sangre , Antígenos de Superficie de la Hepatitis B/inmunología , Virus de la Hepatitis B/patogenicidad , Virus de la Hepatitis B/fisiología , Humanos , Terapia de Inmunosupresión/métodos , Masculino , Persona de Mediana Edad , Síndrome Nefrótico/etiología , Trasplante Homólogo/efectos adversos , Activación Viral/efectos de los fármacos
16.
BMC Public Health ; 19(1): 1262, 2019 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-31510992

RESUMEN

BACKGROUND: Nonspecific Low Back Pain (NLBP) is a common disease with a low cure rate and significant impact on the population. This study aimed to develop and validate a pre-scoring system for identifying the risk of suffering from NLBP among the general population in Guangzhou. METHODS: A total of 1439 eligible subjects were surveyed in Guangzhou by stratified random sampling and was divided randomly into the development dataset (69.6%) and validation dataset (30.4%) subsequently. Based on the development dataset, potential associated factors (average exercise times weekly, the intensity of daily work, etc.) with NLBP were tested by the sequential logistic regression, and a pre-scoring system was formulated with Sullivan's method and graded afterward. The internal validity of the system was assessed by AUC and calibration plot, and the external validation was performed in the validation dataset. RESULTS: The prevalence rates of NLBP in the development dataset and the validation dataset were 12.97 and 13.27%, respectively. Age, BMI, average exercise times weekly, gender, educational level, the intensity of daily work, place of residence, monthly income, overall evaluation of health condition and physiology health were identified as significant factors. The total risk score ranged from 0 to 38, which was split into three risk grades: low risk (0 to 18), intermediate risk (19 to 22) and high risk (23 to 38). The pre-scoring system had an adequate calibration and a good discriminating ability with bootstrap-corrected AUC equaling 0.861 in the development dataset and 0.821 in the validation dataset. CONCLUSIONS: A pre-scoring system that could help clinicians to assess the risk of NLBP in the general population was validated. Further validation of the system in a new population or prospective cohort study is suggested.


Asunto(s)
Dolor de la Región Lumbar/epidemiología , Medición de Riesgo/métodos , Adulto , China/epidemiología , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Reproducibilidad de los Resultados , Adulto Joven
17.
Yi Chuan ; 41(7): 567-581, 2019 Jul 20.
Artículo en Zh | MEDLINE | ID: mdl-31307967

RESUMEN

Cancer is a complex disease caused by the malignant cellular proliferation and metastasis. Elucidating its pathogenic mechanism is one of the major challenges that we face currently. Epigenetic mechanisms are essential for maintaining specific patterns of gene expression and normal development and growth of living individuals. Disorders of epigenetic markers, such as histone modification, DNA/RNA methylation, and changes in the three-dimensional conformation of chromatin, can interfere with gene expression to some extent, and result in cancers. This review provides a brief overview of epigenetics, focusing on their association with the genesis of cancers, and we look forward to the application of epigenetics in cancer clinical diagnosis and treatment.


Asunto(s)
Epigénesis Genética , Neoplasias/genética , Cromatina , Metilación de ADN , Epigenómica , Humanos
18.
Clin Lab ; 64(11)2018 Oct 31.
Artículo en Inglés | MEDLINE | ID: mdl-30549999

RESUMEN

BACKGROUND: X-linked thrombocytopenia (XLT) is a milder form of Wiskott-Aldrich syndrome (WAS), characterized predominantly by thrombocytopenia with small-sized platelets. Mutations in the WAS gene are responsible for the disease. We herein detected a new mutation in the WAS gene responsible for XLT in a 3-generation Chinese pedigree. METHODS: Peripheral blood samples were collected from 7 members in the family. WAS gene was amplified from genomic DNA isolated from leucocytes, and then direct sequencing was performed. RESULTS: Three male members of this family (the proband, his younger brother and maternal uncle) had thrombocytopenia and decreased mean platelet volume. A homozygous mutation (T>C) was found at nucleotide position 319 in exon 3, causing the amino acid Tyr (T) to be abnormally changed to His (H) at position 107. Two female members (the proband's mother and grandmother) were carriers of the mutation. CONCLUSIONS: XLT is easy to misdiagnose as immune thrombocytopenic purpura (ITP). The diagnosis of XLT should be considered in any male with congenital microthrombocytopenia or early onset of microthrombocytope-nia (< 7 fL). This article adds to the growing number of known mutations associated with XLT.


Asunto(s)
Enfermedades Genéticas Ligadas al Cromosoma X/genética , Mutación Missense , Trombocitopenia/genética , Proteína del Síndrome de Wiskott-Aldrich/genética , Síndrome de Wiskott-Aldrich/genética , Adolescente , Pueblo Asiatico/genética , Secuencia de Bases , China , Análisis Mutacional de ADN , Exones/genética , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/sangre , Enfermedades Genéticas Ligadas al Cromosoma X/etnología , Humanos , Masculino , Volúmen Plaquetario Medio , Linaje , Trombocitopenia/sangre , Trombocitopenia/etnología , Síndrome de Wiskott-Aldrich/sangre , Síndrome de Wiskott-Aldrich/etnología
19.
Clin Lab ; 64(10): 1761-1764, 2018 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-30336522

RESUMEN

BACKGROUND: We herein report a fatal case of fulminant septicemia caused by Bacillus cereus in a 49-year-old female with T-cell acute lymphoblastic leukemia receiving chemotherapy. METHODS: Her two blood culture sets were positive for Gram-positive, rod-shaped bacterium. Bacillus cereus was identified by high-throughput MALDI-TOF mass spectrometry and 16S ribosomal RNA gene sequencing. RESULTS: The patient died within 12 hours from the onset of B cereus infection. CONCLUSIONS: Patients with acute leukemia presented with fever and unexplained multiple organ lesions, especially accompanied by CNS symptoms, should alert to the possibility of Bacillus cereus infection.


Asunto(s)
Antibacterianos/uso terapéutico , Bacillus cereus/efectos de los fármacos , Fiebre/tratamiento farmacológico , Infecciones por Bacterias Grampositivas/tratamiento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Bacillus cereus/genética , Bacillus cereus/fisiología , Resultado Fatal , Femenino , Fiebre/complicaciones , Infecciones por Bacterias Grampositivas/complicaciones , Infecciones por Bacterias Grampositivas/microbiología , Humanos , Persona de Mediana Edad , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaciones , ARN Ribosómico 16S/genética , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción
20.
Zhongguo Zhong Xi Yi Jie He Za Zhi ; 36(8): 912-915, 2016 08.
Artículo en Zh | MEDLINE | ID: mdl-30640983

RESUMEN

Objective To observe changes of serum neuron specific enolase (NSE) level in children patients with epilepsy by additional use of ilepcimide (piperine derivative). Methods Totally 107 epilepsy children patients were assigned to the test group (77 cases) and the control group (30 cases) ac- cording to random digit table. Children patients in the control group received anti-epileptic Western drugs only. Those in the test group additionally took ilepcimide, 5 mg/kg per day as initial dose, taken in two times. The dose was gradually added to those without control of epilepsy attack. Added dose within a week should not exceed 10 mg/kg per day. The therapeutic course for all was one year. Electoencephalo- gram (EEG) was performed before treatment, half a year after treatment, and one year after treatment, respectively. Serum NSE level was detected using electrochemiluminescence. Efficacy was assessed after 1-year treatment. Results The total effective rate was 65. 0% (50177) in the test group, with statistical difference as compared with that in the control group [30. 0% (9/30), P <0. 01 ]. Compared with before treatment, serum NES-level obviously decreased in the test group after 0. 5-year treatment and 1- year treatment respectively (P <0. 05, P <0. 01). Besides, serum NES level was lower after 1-year treatment than after 0. 5-year treatment (P <0. 05, P <0. 01). There was no statistical difference in serum NES level between the test group and the control group at each time point (P >0. 05). Results of EEG were obviously superior in the test group (3 with normal range EEG, 5 critically abnormal EEG, 69 abnormal EEG) to the control group (2 with normal range EEG and 75 abnormal EEG) after 1-year treatment, with statistical difference (Z= -2. 33, P <0. 05). There was no statistical difference in EEG results of the control group between before treatment (all abnormal EEG) and after 1-year treatment (3 critically abnormal EEG and 27 abnormal EEG) (Z = -1. 732, P > 0. 05). Conclusion Adding ilepcimide (piperine derivative) for epilepsy children patients could lower serum NSE level and the frequency of seizures, and improve results of EEG.


Asunto(s)
Medicamentos Herbarios Chinos , Epilepsia , Fosfopiruvato Hidratasa , Piperidinas , Niño , Electroencefalografía , Epilepsia/tratamiento farmacológico , Humanos , Fosfopiruvato Hidratasa/sangre , Fosfopiruvato Hidratasa/efectos de los fármacos , Piperidinas/farmacología , Convulsiones
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