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1.
Front Pharmacol ; 14: 1118017, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37124193

RESUMO

Aberrant mitophagy has been identified as a driver for energy metabolism disorder in most cardiac pathological processes. However, finding effective targeted agents and uncovering their precise modulatory mechanisms remain unconquered. Fuzi, the lateral roots of Aconitum carmichaelii, shows unique efficacy in reviving Yang for resuscitation, which has been widely used in clinics. As a main cardiotonic component of Fuzi, mesaconine has been proven effective in various cardiomyopathy models. Here, we aimed to define a previously unrevealed cardioprotective mechanism of mesaconine-mediated restoration of obstructive mitophagy. The functional implications of mesaconine were evaluated in doxorubicin (DOX)-induced heart failure models. DOX-treated mice showed characteristic cardiac dysfunction, ectopic myocardial energy disorder, and impaired mitophagy in cardiomyocytes, which could be remarkably reversed by mesaconine. The cardioprotective effect of mesaconine was primarily attributed to its ability to promote the restoration of mitophagy in cardiomyocytes, as evidenced by elevated expression of PINK1, a key mediator of mitophagy induction. Silencing PINK1 or deactivating mitophagy could completely abolish the protective effects of mesaconine. Together, our findings suggest that the cardioprotective effects of mesaconine appear to be dependent on the activation of PINK1-induced mitophagy and that mesaconine may constitute a promising therapeutic agent for the treatment of heart failure.

2.
Int J Biol Macromol ; : 124686, 2023 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-37146850

RESUMO

Environmental issues caused by plastic packaging materials have gotten increasingly severe, and substantial research has been conducted on environmentally friendly active packaging materials. In this study, the Litsea cubeba essential oil loaded soy protein isolate nanoparticles (LSNPs) with appropriate particle size, high storage stability and salt solution stability were fabricated. The LSNPs with the highest encapsulation efficiency of 81.76 % were added into the lentinan edible film. The microstructures of the films were observed by scanning electron microscopy. The physical properties of the films were measured. The results show that the lentinan film with LSNPs in the volume ratio of 4:1 (LF-4) had the highest elongation at break of 196 %, the lowest oxygen permeability of 12 meq/kg, and good tensile strength, water vapor barrier property, antibacterial property, oxidation resistance and thermal stability. The study suggested that LF-4 film could inhibit the growth of bacteria and delay the oxidation of lipid and protein on beef surface for 7 d.

4.
Nat Commun ; 14(1): 2503, 2023 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-37130853

RESUMO

Photosensitizers (PSs) with nano- or micro-sized pore provide a great promise in the conversion of light energy into chemical fuel due to the excellent promotion for transporting singlet oxygen (1O2) into active sites. Despite such hollow PSs can be achieved by introducing molecular-level PSs into porous skeleton, however, the catalytic efficiency is far away from imagination because of the problems with pore deformation and blocking. Here, very ordered porous PSs with excellent 1O2 generation are presented from cross-linking of hierarchical porous laminates originated by co-assembly of hydrogen donative PSs and functionalized acceptor. The catalytic performance strongly depends on the preformed porous architectures, which is regulated by special recognition of hydrogen binding. As the increasing of hydrogen acceptor quantities, 2D-organized PSs laminates gradually transform into uniformly perforated porous layers with highly dispersed molecular PSs. The premature termination by porous assembly endows superior activity as well as specific selectivity for the photo-oxidative degradation, which contributes to efficient purification in aryl-bromination without any postprocessing.

5.
Protein Cell ; 14(5): 387-392, 2023 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-37155314

Assuntos
Sirtuína 1
6.
Mycopathologia ; 2023 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-37160498

RESUMO

Tinea capitis (TC) in adults is much less frequently diagnosed in comparison to TC in children. In this study, we explored retrospectively adult TC in a specialized dermatology hospital, located in South China, during the years 2007-2021. Among 1037 TC cases, 168 (16.2%) patients were older than 18 years. The majority of adults with TC, 77.38% (130/168), were older than 40, with a peak in the age of 51-60 years (40/168, 23.81%). Before presenting at our hospital, many of patients did not got proper treatment due to misdiagnosis or simply did not consulted an appropriate clinic. 60.71% (102/168) of the patients reported symptoms lasting for more than 1 year and 29.76% (50/168) reported chronic scalp problems of at least 10 years. And 27.38% (46/168) of the patients had an immunocompromised status, including long-term use of corticosteroids shampoo, type 2 diabetes mellitus (DM), psoriasis vulgaris, rheumatoid arthritis, systemic lupus erythematosus or bullous pemphigoid. As for clinical presentation, 87.5% (147/168) of the cases presented as black dot type of TC and anthropophilic dermatophytes were the predominant etiology, with Trichophyton violaceum (126), T. tonsurans (15), T. rubrum (8) and T. shoenleinii (6). Grey patch type of TC (3.57%, 6/168) was seldom in Jiangxi Province and zoophilic/geophilic dermatophytes were rare. Our study indicates that anthropophilic Trichophyton species can cause long-lasting TC in adults. Not in all cases, the manifestation had symptom clearly indicating a dermatophyte-related TC. Thus, patients with long-lasting scalp inflammation, also older ones, should be examined for the presence of dermatophyte-related TC.

7.
Food Chem ; 423: 136311, 2023 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-37167670

RESUMO

To discover molecular fingerprints that vary by bourbon's age or color, 121 commercial bourbon samples were analyzed using both gas chromatography and liquid chromatography combined with mass spectrometry. In total, 81 non-volatile compounds and 102 volatile compounds were identified. A subset of samples containing age information was divided into training (n = 70) and testing (n = 12) groups to build and validate the Partial Least Square - Discriminant Analysis models for age-based classification. After internal and external validation, our models showed that 8 molecular markers unitedly provided up to 100% accuracy of prediction in distinguishing unaged (0 years), younger (0-4 years), and older (>4 years) bourbons. Additional efforts were also made to detect molecular signatures that contributed to the color differences in bourbon. Overall, our study provided a powerful strategy for the confident identification of high-quality products and robust evaluation of their commercial values.

8.
J Phys Chem Lett ; : 4711-4718, 2023 May 12.
Artigo em Inglês | MEDLINE | ID: mdl-37171173

RESUMO

Photocatalytic hydrogen production via water splitting has been a promising method to produce clean energy and effectively reduce environmental pollution. Herein, a specific bandgap-oriented structure search was performed. A two-dimensional (2D) carbon structure comprising triatomic and hexatomic carbon rings, named 2D tri-hex carbon, was proposed to possess suitable bandgap and band edge positions for photocatalytic water splitting. Our results show that 2D tri-hex carbon has a high absorption coefficient under sunlight and high photocatalytic water-splitting efficiency under acidic conditions. The study provides insight into exploring a promising candidate in 2D carbon materials for acid-corrosion-resistant photocatalytic water-splitting applications.

9.
Phys Chem Chem Phys ; 25(19): 13465-13473, 2023 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-37132216

RESUMO

As a unique nanofabrication technology, atomic layer deposition (ALD) has been used in the microelectronics, catalysis, environmental and energy fields. As an energy and catalytic material, nickel sulfide has excellent electrochemical and catalytic activities and has attracted extensive attention. In this work, the reaction mechanism for nickel sulfide ALD from an amidine metal precursor was investigated using density functional theory (DFT) calculations. The results show that the first amidine ligand of bis(N,N'-di-tert-butylacetamidinato)nickel(II) [Ni(tBu-MeAMD)2] can be easily eliminated on the sulfhydrylated surface. The second amidine ligand can also react with the adjacent sulfhydryl group to generate the N,N'-di-tert-butylacetamidine (tBu-MeAMD-H) molecule, which can strongly interact with the Ni atom on the surface and be difficult to be desorbed. In the subsequent H2S reaction, the tBu-MeAMD-H molecule can be exchanged with the H2S precursor. Ultimately, the tBu-MeAMD-H molecule can be desorbed and H2S can be dissociated to form two sulfhydrylated groups on the surface. Meanwhile, the -SH of a H2S molecule can be exchanged with the second tBu-MeAMD ligand. These insights into the reaction mechanism of nickel sulfide ALD can provide theoretical guidance to design the metal amidinate precursors and improve the ALD process for metal sulfides.

10.
ACS Appl Mater Interfaces ; 15(19): 23527-23537, 2023 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-37140148

RESUMO

In photopolymerization-induced 3D printing of glass and ceramics, the demand for a slurry that has high photosensitivity, low viscosity, and high solid content leads to a limited selection of suspended particles. To this end, ultraviolet-assisted direct ink writing (UV-DIW) is proposed as a new 3D printing compatible approach. A curable UV ink is synthesized, which overcomes the material limitation. Benefiting from the advantage of the UV-DIW process, CaAlSiN3:Eu2+/BaMgAl10O17:Eu2+ phosphors in glass (CASN/BAM-PiG) as chromaticity-tunable specially shaped all-inorganic color converters are prepared for plant growth lighting using an optimized heat treatment procedure. Size compatible dome-type and flat-type CaAlSiN3:Eu2+ phosphors in glass (CASN-PiG) are constructed in batches. The manufactured dome-type PiG-based light-emitting diodes (LEDs) exhibit better heat dissipation capacity and a larger divergence angle. The advantage of CASN/BAM-PiG in plant growth lighting is confirmed by the high degree of resemblance between the emission spectra of CASN/BAM-PiG and the absorption spectra of carotenoid and chlorophyll. A series of dome-type CASN/BAM-PiG based LEDs with selective region doping are constructed, which can weaken reabsorption effects and scientifically match the requirements of different plants. The excellent color-tunable ability and high degree of spectral resemblance indicate the superiority of the proposed UV-DIW process in all-inorganic CASN/BAM-PiG color converters for intelligent agricultural lighting.

11.
Sci Total Environ ; : 164145, 2023 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-37209739

RESUMO

Soil particle sizes and mineral phases play a major role in the migration of arsenic (As) in mine. In this study, soil As fractionation and mineralogical composition in different particle sizes soil at naturally mineralized and anthropogenically disturbed zones from an abandoned mine were comprehensively studied. The results showed that soil As contents in anthropogenically disturbed mining zone (MZ), processing zone (PZ), and smelting zone (SZ) were increased with decreasing of soil particle sizes. The contents of As in the fine soil particles (0.45-2 µm) reached to 850-4800 mg·kg-1, which mainly existed at readily soluble, specifically sorbed, and Al-oxide fractions, and contributed to 25.9-62.6 % of the total As contents in soil. Conversely, soil As contents in naturally mineralized zone (NZ) were decreased with decreasing of soil particle sizes and As was mainly accumulated in the coarse fraction of soil (0.075-2 mm). Despite the speciation of As in 0.075-2 mm soil mainly existed as residual fraction, the content of non-residual As fraction reached up to 1636 mg·kg-1, indicating a high potential risk of As in naturally mineralized soil. The utilization of scanning electron microscopy, fourier transform infrared spectroscopy combined with mineral liberation analyzer revealed that soil As in NZ and PZ was mainly retained by iron (hydrogen)oxide, while whereas the dominant host minerals for soil As in MZ and SZ were the surrounding rocks of calcite and the iron-rich silicate mineral biotite. Notably, both of the calcite and biotite exhibited high mineral liberation, which was partly contributed to a significant portion of mobile As fraction in MZ and SZ soil. The results suggested that the potential risks of soil As from SZ and MZ at abandoned mine, particularly in the fine soil particles, should be a prior concern.

12.
Sci Rep ; 13(1): 7957, 2023 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-37198299

RESUMO

Biosurfactants are attracting much interest due to their potential application as therapeutic agents in the medical and cosmetic field. Previous studies have demonstrated that biosurfactant such as sophorolipid (SL) exhibits immunomodulatory effects. In this article, we found the potential of sophorolipid for inhibiting histamine-induced itch and preliminarily explored its molecular basis. First, behavioral tests indicated that SL can remit the histamine-induced scratching behaviors of mice. Second, SL can suppress the the calcium influx induced by histamine, HTMT and VUF8430 in HaCaT cells. RT-PCR analysis showed that the histamine-induced upregulation of mRNA levels of phospholipase Cγ1, 1,4,5-trisphosphate receptor (IP3R), and protein kinase Cα can be inhibted by SL, suggesting that SL may impede the PLC/IP3R signaling pathway activated by histamine. In further tests, the capsaicin-induced calcium influx can also be inhibited by SL. The immunofluorescence and molecular docking analysis indicated that SL acts as an inhibitor of transient receptor potential vanilloid-1 (TRPV1) activation to decrease calcium influx against stimuli. In summary, these results revealed that SL may inhibit histamine-induced itch by decreasing PLC/IP3R signaling pathway activation and modulating TRPV1 activity. This paper indicates that SL can be a useful treatment for histamine-dependent itch.


Assuntos
Cálcio , Histamina , Camundongos , Animais , Histamina/metabolismo , Cálcio/metabolismo , Simulação de Acoplamento Molecular , Prurido/induzido quimicamente , Prurido/tratamento farmacológico , Prurido/metabolismo , Transdução de Sinais , Canais de Cátion TRPV/metabolismo
13.
Brain Sci ; 13(4)2023 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-37190577

RESUMO

OBJECTIVES: The purpose of this research was to investigate whether MRI and Simultaneous Hybrid PET/MRI images were consistent in the histological classification of patients with focal cortical dysplasia. Additionally, this research aimed to evaluate the postoperative outcomes with the MRI and Simultaneous Hybrid PET/MRI images of focal cortical dysplasia. METHODS: A total of 69 cases in this research were evaluated preoperatively for drug-resistant seizures, and then surgical resection procedures of the epileptogenic foci were performed. The postoperative result was histopathologically confirmed as focal cortical dysplasia, and patients then underwent PET and MRI imaging within one month of the seizure. In this study, head MRI was performed using a 3.0 T magnetic resonance scanner (Philips) to obtain 3D T1WI images. The Siemens Biograph 16 scanner was used for a routine scanning of the head to obtain PET images. BrainLAB's iPlan software was used to fuse 3D T1 images with PET images to obtain PET/MRI images. RESULTS: Focal cortical dysplasia was divided into three types according to ILAE: three patients were classified as type I, twenty-five patients as type II, and forty-one patients as type III. Patients age of onset under 18 and age of operation over 18 had a longer duration (p = 0.036, p = 0.021). MRI had a high lesion detection sensitivity of type III focal cortical dysplasia (p = 0.003). Simultaneous Hybrid PET/MRI showed high sensitivity in detecting type II and III focal cortical dysplasia lesions (p = 0.037). The lesions in Simultaneous Hybrid PET/MRI-positive focal cortical dysplasia patients were mostly located in the temporal and multilobar (p = 0.005, 0.040). CONCLUSION: Simultaneous Hybrid PET/MRI has a high accuracy in detecting the classification of focal cortical dysplasia. The results of this study indicate that patients with focal cortical dysplasia with positive Simultaneous Hybrid PET/MRI have better postoperative prognoses.

14.
J Clin Hypertens (Greenwich) ; 25(5): 489-496, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37129210

RESUMO

Most patients with hypertension are complicated with insulin resistance (IR), which is one of the risk factors of hypertension and can increase the level of serum homocysteine (Hcy) by affecting Hcy's metabolic enzyme and insulin level. Investigations in recent years have shown that Hcy is an independent risk factor for cardiovascular diseases. At present, folic acid is the prominent medicine used to reduce Hcy, but its effection for Hcy has an obvious individual difference, which is closely related to individual genes. Moreover, folic acid is chiefly used in patients with Hcy ≥15 µmol/L, but Hcy ≥10 µmol/L has had an adverse effect on the cardiovascular system. Randomized clinical trials have shown that dapagliflozin can improve IR. Therefore, whether it can reduce Hcy has become a new direction. This study was a retrospective case-control study. Patients with high serum Hcy and hypertension complicated with IR were divided into two groups: the dapagliflozin group (n = 166) and the control group (n = 198). Before and after 12 weeks of treatment, the changes in serum Hcy and IR index were measured and compared. We found that dapagliflozin could reduce the serum Hcy level of patients with hypertension and IR to a certain extent. Dapagliflozin could be a viable option for hypertension complicated with IR and hyperhomocysteinemia. However, these findings need to be further confirmed in future randomized clinical trials with a large number of samples.


Assuntos
Hiper-Homocisteinemia , Hipertensão , Resistência à Insulina , Humanos , Estudos Retrospectivos , Estudos de Casos e Controles , Ácido Fólico/uso terapêutico , Homocisteína , Hiper-Homocisteinemia/complicações , Hiper-Homocisteinemia/tratamento farmacológico , Hiper-Homocisteinemia/epidemiologia
15.
Nutr Cancer ; 75(5): 1315-1322, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37130828

RESUMO

The current study aimed to evaluate the effect of bilirubin on the outcomes of colorectal cancer (CRC) in patients who underwent radical CRC surgery. The levels of serum bilirubin, including total bilirubin (TBil), direct bilirubin (DBil) and indirect bilirubin (IBil), were divided into higher groups and lower groups according to the median. Multivariate logistic regression was performed to analyze the independent predictors for overall complications and major complications. For TBil, the hospitalization time of the higher TBil group was longer than that of the lower TBil group (p = 0.014 < 0.05). For DBil, the higher DBil group had longer operation times (p < 0.01), more intraoperative bleeding (p < 0.01), longer hospital stays (p < 0.01), and higher rates of overall complications (p < 0.01) and major complications (p = 0.021 < 0.05) than the lower DBil group. For the IBil group, blood loss during operation (p < 0.01) and hospital stays (p = 0.041 < 0.05) in the higher IBil group were lower than those in the lower IBil group. In terms of complications, we found that DBil was an independent predictor for overall complications (p < 0.01, OR = 1.036, 95% CI = 1.014-1.058) and major complications (p = 0.043, HR= 1.355, 95% CI= 1.009-1.820). Higher preoperative DBil increase the risk of complications after primary CRC surgery.


Assuntos
Neoplasias Colorretais , Procedimentos Cirúrgicos do Sistema Digestório , Humanos , Bilirrubina , Estudos Retrospectivos , Neoplasias Colorretais/cirurgia
16.
Artigo em Inglês | MEDLINE | ID: mdl-37205739

RESUMO

As a unique 2D magnetic material with self-intercalated structure, Cr5Te8 exhibits many intriguing magnetic properties. While its ferromagnetism of Cr5Te8 has been previously reported, the research on its magnetic domain remains unexplored. Herein, we have successfully fabricated 2D Cr5Te8 nanosheets with controlled thickness and lateral size by chemical vapor deposition (CVD). Then magnetic property measurement system revealed Cr5Te8 nanosheets exhibiting intense out-of-plane ferromagnetism with a Curie temperature (TC) of 176 K. Significantly, we reported for the first time two magnetic domains: magnetic bubbles and thickness-dependent maze-like magnetic domains in our Cr5Te8 nanosheets by cryogenic magnetic force microscopy (MFM). The domain width of the maze-like magnetic domains increases rapidly with decreasing sample thickness; meanwhile, the domain contrast decreases. This indicates the dominant role of ferromagnetism shifts from dipolar interactions to magnetic anisotropy. Our research not only establishes a pathway for the controllable growth of 2D magnetic materials but also points toward novel avenues for regulating magnetic phases and methodically tuning domain characteristics.

17.
Transpl Immunol ; : 101856, 2023 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-37196867

RESUMO

OBJECTIVE: Dendritic cells (DCs) are professional antigen-presenting cells that play a key role in maintaining peripheral immune tolerance. The use of tolerogenic DCs (tolDCs), i.e., semi-mature DCs that express co-stimulatory molecules but not pro-inflammatory cytokines, has been proposed. However, the mechanism of tolDCs induced by minocycline is still unclear. Our previous bioinformatics analyses based on multiple databases suggested that the suppressor of cytokine signaling 1/Toll-like receptor 4/NF-κB (SOCS1/TLR4/NF-κB) signal pathway was associated with DCs maturation. Thus, we studied whether minocycline could induce DC tolerance through this pathway. METHODS: A search for potential targets was carried out through public databases, and pathway analysis was performed on these potential targets to obtain pathways relevant to the experiment. Flow cytometry was used to detect the expression of DC surface markers CD11c, CD86, and CD80, and major histocompatibility complex II. The secretion of interleukin (IL)-12p70, tumor necrosis factor alpha (TNF- α), and IL-10 in the DC supernatant was detected by enzyme-linked immunoassay. The ability of three groups (Ctrl-DCs, Mino-DCs, and LPS-DCs) of DCs to stimulate allogeneic CD4+ T cells was analyzed using a mixed lymphocyte reaction assay. Western blotting was used to detect the expression of TLR4, NF-κB-p65, NF-κB-p-p65, IκB-α, and SOCS1 proteins. RESULTS: The hub gene plays a vital role in biological processes; in related pathways, the regulation of other genes is often affected by it. The SOCS1/TLR4/NF-κB signaling pathway was further validated by searching for potential targets through public databases to obtain relevant pathways. The minocycline-induced tolDCs showed characteristics of semi-mature DCs. Moreover, the IL-12p70 and TNF-α levels in the minocycline-stimulated DC group (Mino-DC group) were lower than those in the lipopolysaccharide (LPS)-DC group, and the IL-10 levels were higher in the Mino-DC group than in the LPS-DC and control DC groups. In addition, the Mino-DC group had decreased protein expression levels of TLR4 and NF-κB-p65 and upregulated protein levels of NF-κB-p-p65, IκB-α, and SOCS1 compared with the other groups. CONCLUSION: The results of this study indicate that minocycline could improve the tolerance of DCs probably by blocking the SOCS1/TLR4/NF-κB signaling pathway.

18.
Front Med (Lausanne) ; 10: 1103182, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37181349

RESUMO

Although anal cancer remains rarely diagnosed in the world, its frequency is rising, especially in high-risk groups. The prognosis of advanced anal cancer is poor. However, there are still few reports on the endoscopic diagnosis and treatment of early anal cancer and its precancerous lesions. A 60-year-old woman was referred to our hospital for endoscopic treatment of a flat precancerous lesion in the anal canal, which was identified by narrow-band imaging (NBI) and confirmed by pathological examination in another hospital. The pathological results showed a high-grade squamous intraepithelial lesion (HSIL) in the biopsy specimen, and immunochemistry staining showed P16 positive, suggesting HPV infection. We performed pre-resection endoscopic examination for the patient. A lesion with a clear margin and tortuous dilated vessels was revealed under magnifying endoscopy with NBI (ME-NBI), which stayed unstained after iodine spraying. The lesion was successfully removed en bloc using ESD without complications, and the resected specimen was a low-grade squamous intraepithelial lesion (LSIL) with positive immunochemistry staining of P16. The patient underwent follow-up coloscopy a year after ESD, and the anal canal healed well with no suspicious lesions found. From this case, we can learn that ESD is safe and effective for curative resection of precancerous lesions of the anal canal.

19.
Neurol India ; 71(2): 323-325, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37148061

RESUMO

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disease associated with the mutation of the TYMP gene. MNGIE causes gastrointestinal and neurological symptoms, and the gastrointestinal symptoms are usually notable, which may lead to misdiagnosis. However, we herein report a 29-year-old female who presented with prominent neurological symptoms, while her gastrointestinal symptoms were mild. Brain MRI revealed prominent diffused leukoencephalopathy and peripheral neuropathy was confirmed by the nerve conduction velocity test. Biochemical tests showed elevated plasma thymidine, deoxyuridine, and lactate levels. Molecular genetic testing demonstrated a novel homozygous TYMP c. 447 dupG mutation and the patient's mother was heterozygous for the mutation but had no clinical features. MNGIE was diagnosed based on the results. Unlike other patients who had notable gastrointestinal symptoms, this patient presented with more prominent neurological symptoms than gastrointestinal symptoms, which might have been caused by the novel mutation in the TYMP gene.


Assuntos
Encefalomiopatias Mitocondriais , Humanos , Feminino , Adulto , Encefalomiopatias Mitocondriais/complicações , Encefalomiopatias Mitocondriais/diagnóstico , Encefalomiopatias Mitocondriais/genética , Timidina Fosforilase/genética , Mutação/genética , Testes Genéticos
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