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BACKGROUND: Oculo-facio-cardio-dental (OFCD) syndrome is a rare condition that affects the eyes, face, heart, and teeth of patients. One notable dental characteristic of OFCD is radiculomegaly, or root gigantism, which highlights the role of dentists in detecting this syndrome. OFCD is an X-linked dominant syndrome that results from a variant in the BCOR gene. Our study presents the first documented case of OFCD in Vietnam and reports a novel BCOR gene variant observed in this case. CASE PRESENTATION: A 19-year-old Vietnamese female patient with an extremely long root with an abscess was clinically examined for the expression of OFCDs. The radiograph and the variant in BCOR gene were also evaluated. We identified abnormalities in the teeth, as well as ocular, facial, and cardiac features, with radiculomegaly of the canines being a specific symptom for OFCDs. The patient's genetic analysis revealed a pathogenic heterozygous deletion at intron 11 of the BCOR gene, representing a novel variant. CONCLUSION: Oculo-facio-cardio-dental syndrome (OFCD) is an extremely rare condition characterized by abnormalities in the eyes, face, heart, and teeth, often caused by variants in the BCOR gene. Radiculomegaly, or enlarged dental roots, is a key diagnostic feature of OFCD, and early detection is crucial for preventing future dental complications.
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Anormalidades do Olho , Cardiopatias Congênitas , Defeitos dos Septos Cardíacos , Microftalmia , Feminino , Humanos , Adulto Jovem , Face/patologia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/patologia , Defeitos dos Septos Cardíacos/diagnóstico , Defeitos dos Septos Cardíacos/genética , Microftalmia/genética , SíndromeRESUMO
Introduction and importance: Cronkhite-Canada syndrome (CCS) is an extremely rare non-inherited syndrome first described in 1955 with only about 500 more cases reported so far. Since the aetiology of the disease remains unknown, there were no specific treatments in consensus. In many countries, CCS is a completely new condition that may confuse physicians at first encounter. Lessons should be learned from these cases by gastrointestinal specialists to be aware of this condition in any circumstances. Case presentation: The authors reported a case study of a 45-year-old Vietnamese male with CCS diagnosis, which encountered at our centre for the first time. Clinical discussion: The definitive diagnosis was provided by combining clinical characteristics, and endoscopic and histopathologic features, after excluding other causes of gastrointestinal polyposis. The patient responds to corticosteroids, proton pump inhibitors, and nutritional support right after treatment. After 1 year of treatment, his symptoms ameliorated completely although colon polyps insignificantly reduced. Conclusion: Gastroenterologists should always be aware of patients with CCS with the following symptoms: gastrointestinal hamartomatous polyps, diarrhoea, and the dermatologic triad of alopecia, hyperpigmentation, and onychodystrophy.
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The state policies and energy prices are evaluated to play a crucial role in the context of crises occurring in each country. The authors collected data on state policies and energy prices concerning energy-saving behavior during crises, with a particular focus on the Covid-19 crisis. The data was gathered from 1216 respondents, who are households. The data's reliability was assessed using Smart-PLS software. The data will provide research ideas related to state policies, energy prices, and energy-saving behavior associated with crises similar to Covid-19.
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In this work, the magnetic states and thermally induced spin currents in graphene nanoflake sizes with different sizes and shapes have been investigated using Hubbard model combined with non-equilibrium Green's function method. In addition to the antiferromagnetic (AFM) state governed by the sizes, shapes, armchair bond densities, and Coulomb energy, our calculations have also pointed out the emergence of ferromagnetic (FM) and complex magnetic states when the gate voltage is invoked in the graphene nanoflakes. More prominently, by exploiting the geometric symmetry of the nanoflakes without external fields, a pure spin current and zero charge current are generated in spin caloritronic device when the graphene nanoflakes are both in the AFM and FM states. The formation of pure spin currents driven by temperature difference depends on the graphene nanoflakes' size, shape, temperature and gate voltage as well. The study also shows the outstanding advantages of diamond-shaped graphene nanoflakes in both magnetic properties and spin currents. This result paves the way for the possibility of practical applications of graphene materials in spintronics and spin caloritronics.
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Code recommendation is an important feature of modern software development tools to improve the productivity of programmers. The current advanced techniques in code recommendation mostly focus on the crowd-based approach. The basic idea is to collect a large pool of available source code, extract the common code patterns, and utilize the patterns for recommendations. However, programmers are different in multiple aspects including coding preferences, styles, levels of experience, and knowledge about libraries and frameworks. These differences lead to various usages of code elements. When the code of multiple programmers is combined and mined, such differences are disappeared, which could limit the accuracy of the code recommendation tool for a specific programmer. In the paper, we develop a code recommendation technique that focuses on the personal coding patterns of programmers. We propose Persona, a personalized code recommendation model. It learns personalized code patterns for each programmer based on their coding history, while also combines with project-specific and common code patterns. Persona supports recommending code elements including variable names, class names, methods, and parameters. The empirical evaluation suggests that our recommendation tool based on Persona is highly effective. It recommends the next identifier with top-1 accuracy of 60-65% and outperforms the baseline approaches.
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Reconhecimento Automatizado de Padrão/métodos , Algoritmos , Coleta de Dados , Humanos , Modelos Teóricos , Linguagens de ProgramaçãoRESUMO
[This corrects the article DOI: 10.1039/D0RA03047C.].
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Objectives: To evaluate the efficacy and safety of letrozole on ovulation induction and pregnancy in infertility patients with polycystic ovary syndrome (PCOS). In addition, the insulin resistance was analyzed in these patients.Subjects and methods: Progressive description study with comparison. The study included 80 infertility women divided into two groups: 40 women with PCOS (the study group) and 40 women without PCOS (the control group). The both used letrozole for ovulation induction from cycle day 2.Results: No differences in the dominant follicle between the study group and the control group (1.16 ± 0.37 follicles and 1.30 ± 0.46 follicles, respectively). The clinical pregnancy rate was 22.5% of the both groups. The average insulin of the study group (10.85 ± 5.84 µUI/ml) and their average HOMA-IR (2.42 ± 1.34) were higher than the control group (7.44 ± 2.84 µUI/ml and 1.57 ± 0.68), p < .05. The QUICKI of the study group (0.35 ± 0.29) was lower than the control group (0.36 ± 0.25), p < .05.Conclusion: Letrozole is used to stimulate the ovaries of the infertile women with PCOS combined with intrauterine insemination is the effective treatment. These patients had the high risk of insulin resistance.
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Inibidores da Aromatase/administração & dosagem , Inseminação Artificial Homóloga , Letrozol/administração & dosagem , Indução da Ovulação/métodos , Síndrome do Ovário Policístico , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Resistência à Insulina , Masculino , Adulto JovemRESUMO
Direct synthesis of imidazothiones from simple, commercial substrates is not known. We report a method for the condensation of acetophenones, elemental sulfur, and ammonium acetate as a nitrogen source to obtain the hitherto challenging five-membered heterocycles. Functionalities such as halogen, trifluoromethyl, cyano, methylthio, and heteroaryl groups were well tolerated.
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OBJECTIVE: Sperm cryopreservation has been widely used in assisted reproductive technology, as it offers great potential for the treatment of some types of male infertility. However, cryopreservation may result in changes in membrane lipid composition and acrosome status, as well as reductions in sperm motility and viability. This study aimed to evaluate sperm DNA fragmentation damage caused by conventional freezing using the sperm chromatin dispersion test. METHODS: In total, 120 fresh human semen samples were frozen by conventional methods, using SpermFreeze Solution as a cryoprotectant. Routine semen analysis and a Halosperm test (using the Halosperm kit) were performed on each sample before freezing and after thawing. Semen parameters and sperm DNA fragmentation were compared between these groups. RESULTS: There was a significant decrease in sperm progressive motility, viability, and normal morphology after conventional freezing (32.78%, 79.58%, and 3.87% vs. 16%, 55.99%, and 2.55%, respectively). The sperm head, midpiece, and tail defect rate increased slightly after freezing. Furthermore, the DNA fragmentation index (DFI) was significantly higher after thawing than before freezing (19.21% prior to freezing vs. 22.23% after thawing). Significant increases in the DFI after cryopreservation were observed in samples with both normal and abnormal motility and morphology, as well as in those with normal viability. CONCLUSION: Conventional freezing seems to damage some sperm parameters, in particular causing a reduction in sperm DNA integrity.
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A method for cobalt-catalyzed, carboxylate-directed functionalization of arene C-H bonds is reported. Alkynes, styrenes, and 1,3-dienes can be coupled with benzoic acids to provide cyclic products in good yields. The reactions proceed in the presence of a cobalt(II) hexafluoroacetylacetonate catalyst, (TMS)2 NH base, Ce(SO4 )2 cooxidant, and oxygen oxidant.
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Alcinos/química , Ácido Benzoico/química , Cobalto/química , Polienos/química , Estirenos/química , Alquilação , Carbono/química , Catálise , Hidrogênio/química , Oxidantes/químicaRESUMO
The study was conducted on 110 poor responders undergoing in vitro fertilization (IVF) from October 2015 to July 2016 at the IVF Center of Millitary Medical University, Vietnam. Its aim is to investigate the effectiveness of transdermal androgel before using controlled ovarian stimulation on patients undergoing IVF. A prospective, descriptive study was conducted to compare between the group of patients who used testosterone gel and the group of those who did not in terms of the following indicators: the number of oocytes retrieved, MII oocytes, fertilization rate, number of embryos, pregnancy rate, and embryo implantation rate. The number of oocytes retrieved, number of embryos, pregnancy rate, and embryo implantation rate of the group of patients using transdermal androgel before Controlled Ovarian Stimulation (COS) were found higher than those of the control group, with statistical significance. The use of androgel before stimulating ovarian can improve the responsiveness of poor responders when undergoing IVF.
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Androgênios/administração & dosagem , Oócitos , Indução da Ovulação , Testosterona/administração & dosagem , Adulto , Implantação do Embrião , Feminino , Fertilização , Humanos , Gravidez , Taxa de GravidezRESUMO
We report a method for cobalt-catalyzed, aminoquinoline-directed sp2 C-H bond carbonylation of sulfonamides. The reactions proceed in a dichloroethane solvent, and employ diisopropyl azodicarboxylate as a carbon monoxide source, Mn(OAc)2 as a cooxidant and potassium pivalate as a base. Halogen, ester, and amide functionalities are compatible with the reaction conditions. This method allows for a short and efficient synthesis of saccharin derivatives.
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Aminoquinoline-directed, palladium-catalyzed sp3 C-H bond arylation in phosphonamidates and phosphinic amides is reported. The reaction employs Pd(OAc)2 as a catalyst at 10 mol% loading and cesium phosphate or potassium carbonate as a base in 1,2-dichlorobenzene as a solvent. The directing group can be removed under basic conditions to afford phosphonic acid esters. The chemistry described here is the first example of unactivated sp3 C-H bond arylation by using a phosphorus-containing directing group.
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In this paper, we introduce arylphosphinic acid aminoquinoline amides as competent substrates for cobalt-catalyzed sp2 C-H bond functionalization. Specifically, the feasibility of their coupling with alkynes, alkenes, and allyl pivalate has been demonstrated. Reactions are catalyzed by simple Co(NO3)2 hydrate in ethanol or mixed dioxane/tBuOH solvent in the presence of Mn(OAc)3·2H2O additive, sodium pivalate, or acetate base and use oxygen from the air as an oxidant. Directing group removal affords ortho-functionalized P,P-diarylphosphinic acids.