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1.
Phys Rev Lett ; 133(13): 131801, 2024 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-39392959

RESUMEN

We measure the complete set of angular coefficients J_{i} for exclusive B[over ¯]→D^{*}ℓν[over ¯]_{ℓ} decays (ℓ=e, µ). Our analysis uses the full 711 fb^{-1} Belle dataset with hadronic tag-side reconstruction. The results allow us to extract the form factors describing the B[over ¯]→D^{*} transition and the Cabibbo-Kobayashi-Maskawa matrix element |V_{cb}|. Using recent lattice QCD calculations for the hadronic form factors, we find |V_{cb}|=(40.7±0.7)×10^{-3} using the Boyd-Grinstein-Lebed parametrization, compatible with determinations from inclusive semileptonic decays. We search for lepton flavor universality violation as a function of the hadronic recoil parameter w and investigate the differences of the electron and muon angular distributions. We find no deviation from standard model expectations.

2.
Rev Sci Instrum ; 95(10)2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39441056

RESUMEN

We have developed a terahertz (THz) nonlinear spectrometer at low temperatures (1.5-300 K) and under high magnetic fields (up to 10 T) by combining the laser-driven table-top intense THz source with a superconducting magnet. The strong-field THz pump pulse was generated from LiNbO3 crystal using the tilted-pulse-front technique and tightly focused into the center of the magnet by an off-axis parabolic mirror and a THz lens. The electric fields at the focus can achieve 500 kV/cm with a monocycle waveform and 30 kV/cm with a multicycle waveform at 0.5 THz. The sample was mounted on a low-temperature motorized rotation stage, which enables performing the polarization dependent measurements of the third harmonic generation (THG) intensity without rotating the incident THz pulses. The magnetic field direction can be rotated using a mechanical rotator, allowing for a convenient switch between Faraday and Voigt geometry. We demonstrate the excellent performance of our instrument by conducting THG measurements in the two-band superconductor MgB2 as a function of temperature, sample azimuth angle, as well as in-plane and out-of-plane magnetic fields. The successful combination of the strong field THz source with magnetic fields enables us to study a variety of materials with magnetic-field-dependent properties of interest.

3.
Phys Rev Lett ; 133(8): 081801, 2024 Aug 23.
Artículo en Inglés | MEDLINE | ID: mdl-39241732

RESUMEN

We present a comprehensive study of B^{0}→ωω decays using 772×10^{6} BB[over ¯] pairs collected with the Belle detector at the KEKB e^{+}e^{-} collider. This process is a suppressed charmless decay into two vector mesons and can exhibit interesting polarization and CP violation. The decay is observed for the first time with a significance of 7.9 standard deviations. We measure a branching fraction B=(1.53±0.29±0.17)×10^{-6}, a fraction of longitudinal polarization f_{L}=0.87±0.13±0.13, and a time-integrated CP asymmetry A_{CP}=-0.44±0.43±0.11, where the first uncertainties listed are statistical and the second are systematic. This is the first observation of B^{0}→ωω and the first measurements of f_{L} and A_{CP} for this decay.

4.
Phys Rev Lett ; 133(7): 071802, 2024 Aug 16.
Artículo en Inglés | MEDLINE | ID: mdl-39213574

RESUMEN

We report the results of the first search for B^{-} decays to the Ξ[over ¯]_{c}^{0}Λ[over ¯]_{c}^{-} final state using 711 fb^{-1} of data collected at the ϒ(4S) resonance with the Belle detector at the KEKB asymmetric-energy e^{+}e^{-} collider. The results are interpreted in terms of both direct baryon-number-violating B^{-} decay and Ξ_{c}^{0}-Ξ[over ¯]_{c}^{0} oscillations which follow the standard model decay B^{-}→Ξ_{c}^{0}Λ[over ¯]_{c}^{-}. We observe no evidence for baryon number violation and set the 95% confidence-level upper limits on the ratio of baryon-number-violating and standard model branching fractions B(B^{-}→Ξ[over ¯]_{c}^{0}Λ[over ¯]_{c}^{-})/B(B^{-}→Ξ_{c}^{0}Λ[over ¯]_{c}^{-}) to be <2.7% and on the effective angular frequency of mixing ω in Ξ_{c}^{0}-Ξ[over ¯]_{c}^{0} oscillations to be <0.76 ps^{-1} (equivalent to τ_{mix}>1.3 ps).

7.
Ann R Coll Surg Engl ; 106(8): 700-704, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38445611

RESUMEN

INTRODUCTION: Large language models (LLM), such as Chat Generative Pre-trained Transformer (ChatGPT) and Bard utilise deep learning algorithms that have been trained on a massive data set of text and code to generate human-like responses. Several studies have demonstrated satisfactory performance on postgraduate examinations, including the United States Medical Licensing Examination. We aimed to evaluate artificial intelligence performance in Part A of the intercollegiate Membership of the Royal College of Surgeons (MRCS) examination. METHODS: The MRCS mock examination from Pastest, a commonly used question bank for examinees, was used to assess the performance of three LLMs: GPT-3.5, GPT 4.0 and Bard. Three hundred mock questions were input into the three LLMs, and the responses provided by the LLMs were recorded and analysed. The pass mark was set at 70%. RESULTS: The overall accuracies for GPT-3.5, GPT 4.0 and Bard were 67.33%, 71.67% and 65.67%, respectively (p = 0.27). The performances of GPT-3.5, GPT 4.0 and Bard in Applied Basic Sciences were 68.89%, 72.78% and 63.33% (p = 0.15), respectively. Furthermore, the three LLMs obtained correct answers in 65.00%, 70.00% and 69.17% of the Principles of Surgery in General questions (p = 0.67). There were no differences in performance in the overall and subcategories among the three LLMs. CONCLUSIONS: Our findings demonstrated satisfactory performance for all three LLMs in the MRCS Part A examination, with GPT 4.0 the only LLM that achieved the pass mark set.


Asunto(s)
Evaluación Educacional , Humanos , Evaluación Educacional/métodos , Inteligencia Artificial , Cirujanos/estadística & datos numéricos , Cirujanos/educación , Cirugía General/educación , Competencia Clínica , Aprendizaje Profundo , Sociedades Médicas , Reino Unido
8.
J Dent Res ; 103(2): 197-207, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38185909

RESUMEN

Periodontitis has been emphasized as a risk factor of insulin resistance-related systemic diseases. Accumulating evidence has suggested a possible "oral-gut axis" linking oral infection and extraoral diseases, but it remains unclear whether periodontal pathogens can survive the barriers of the digestive tract and how they play their pathogenic roles. The present study established a periodontitis mouse model through oral ligature plus Porphyromonas gingivalis inoculation and demonstrated that periodontitis aggravated diet-induced obesity and insulin resistance, while also causing P. gingivalis enrichment in the intestine. Metabolic labeling strategy validated that P. gingivalis could translocate to the gastrointestinal tract in a viable state. Oral administration of living P. gingivalis elicited insulin resistance, while administration of pasteurized P. gingivalis had no such effect. Combination analysis of metagenome sequencing and nontargeted metabolomics suggested that the tryptophan metabolism pathway, specifically indole and its derivatives, was involved in the pathogenesis of insulin resistance caused by oral administration of living P. gingivalis. Moreover, liquid chromatography-high-resolution mass spectrometry analysis confirmed that the aryl hydrocarbon receptor (AhR) ligands, mainly indole acetic acid, tryptamine, and indole-3-aldehyde, were reduced in diet-induced obese mice with periodontitis, leading to inactivation of AhR signaling. Supplementation with Ficz (6-formylindolo (3,2-b) carbazole), an AhR agonist, alleviated periodontitis-associated insulin resistance, in which the restoration of gut barrier function might play an important role. Collectively, these findings reveal that the oral-gut translocation of viable P. gingivalis works as a fuel linking periodontitis and insulin resistance, in which reduction of AhR ligands and inactivation of AhR signaling are involved. This study provides novel insight into the role of the oral-gut axis in the pathogenesis of periodontitis-associated comorbidities.


Asunto(s)
Resistencia a la Insulina , Periodontitis , Ratones , Animales , Porphyromonas gingivalis/fisiología , Ratones Endogámicos C57BL , Periodontitis/metabolismo , Modelos Animales de Enfermedad
9.
Phys Rev Lett ; 131(21): 211801, 2023 Nov 24.
Artículo en Inglés | MEDLINE | ID: mdl-38072600

RESUMEN

The first simultaneous determination of the absolute value of the Cabibbo-Kobayashi-Maskawa matrix element V_{ub} using inclusive and exclusive decays is performed with the full Belle data set at the ϒ(4S) resonance, corresponding to an integrated luminosity of 711 fb^{-1}. We analyze collision events in which one B meson is fully reconstructed in hadronic modes. This allows for the reconstruction of the hadronic X_{u} system of the semileptonic b→uℓν[over ¯]_{ℓ} decay. We separate exclusive B→πℓν[over ¯]_{ℓ} decays from other inclusive B→X_{u}ℓν[over ¯]_{ℓ} and backgrounds with a two-dimensional fit that utilizes the number of charged pions in the X_{u} system and the four-momentum transfer q^{2} between the B and X_{u} systems. Combining our measurement with information from lattice QCD and QCD calculations of the inclusive partial rate as well as external experimental information on the shape of the B→πℓν[over ¯]_{ℓ} form factor, we determine |V_{ub}^{excl}|=(3.78±0.23±0.16±0.14)×10^{-3} and |V_{ub}^{incl}|=(3.88±0.20±0.31±0.09)×10^{-3}, respectively, with the uncertainties being the statistical error, systematic errors, and theory errors. The ratio of |V_{ub}^{excl}|/|V_{ub}^{incl}|=0.97±0.12 is compatible with unity.

10.
Phys Rev Lett ; 131(21): 211802, 2023 Nov 24.
Artículo en Inglés | MEDLINE | ID: mdl-38072609

RESUMEN

We report on a search for a heavy Majorana neutrino in the decays τ^{-}→π^{-}ν_{h}, ν_{h}→π^{±}ℓ^{∓}, ℓ=e, µ. The results are obtained using the full data sample of 988 fb^{-1} collected with the Belle detector at the KEKB asymmetric energy e^{+}e^{-} collider, which contains 912×10^{6} ττ pairs. We observe no significant signal and set 95% CL upper limits on the couplings of the heavy right-handed neutrinos to the conventional standard model left-handed neutrinos in the mass range 0.2-1.6 GeV/c^{2}. This is the first study of a mixed couplings of heavy neutrinos to τ leptons and light-flavor leptons.

11.
Phys Rev Lett ; 130(26): 261802, 2023 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-37450824

RESUMEN

We present a search for the lepton flavor violating decays B^{+}→K^{+}τ^{±}ℓ^{∓}, with ℓ=(e,µ), using the full data sample of 772×10^{6} BB[over ¯] pairs recorded by the Belle detector at the KEKB asymmetric-energy e^{+}e^{-} collider. We use events in which one B meson is fully reconstructed in a hadronic decay mode. We find no evidence for B^{±}→K^{±}τℓ decays and set upper limits on their branching fractions at the 90% confidence level in the (1-3)×10^{-5} range. The obtained limits are the world's best results.

12.
Phys Rev Lett ; 131(2): 021801, 2023 Jul 14.
Artículo en Inglés | MEDLINE | ID: mdl-37505960

RESUMEN

We report the first measurement of the Michel parameter ξ^{'} in the τ^{-}→µ^{-}ν[over ¯]_{µ}ν_{τ} decay with a new method proposed just recently. The measurement is based on the reconstruction of the τ^{-}→µ^{-}ν[over ¯]_{µ}ν_{τ} events with subsequent muon decay in flight in the Belle central drift chamber. The analyzed data sample of 988 fb^{-1} collected by the Belle detector corresponds to approximately 912×10^{6} τ^{+}τ^{-} pairs. We measure ξ^{'}=0.22±0.94(stat)±0.42(syst), which is in agreement with the standard model prediction of ξ^{'}=1. Statistical uncertainty dominates in this study, being a limiting factor, while systematic uncertainty is well under control. Our analysis proved the practicability of this promising method and its prospects for further precise measurement in future experiments.

13.
Eur Rev Med Pharmacol Sci ; 27(9): 4292-4298, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37203855

RESUMEN

OBJECTIVE: This study aims to characterize the rate of two specific resistance genes (KPC and NDM-1) and determine the route of transmission between the sites to implement infection control measures effectively. PATIENTS AND METHODS: This study was carried out at Viet Duc hospital in Vietnam. Bacterial isolates (Klebsiella pneumoniae) were collected between January 2018 and June 2019. Bacterial strains and antimicrobial susceptibility testing were performed in the VITEK 2 system. RESULTS: A total of 100 samples from 25 patients were taken. From each patient, we collected 4 samples from 4 sites. 25 isolated strains resisted 100% to amoxicillin/acid clavulanic, piperacillin/Tazobactam, and antibiotics in the cephalosporine group. Particularly in the carbapenem group, they resisted 100% to ertapenem, 96% to imipenem, and eropenem (rest was intermediate level). They have 76% sensitivity to aminoglycosides, 76% to amikacin, 60% to gentamycin, and 60% to tigecycline. Klebsiella pneumoniae carbapenemase (KPC) (+) was 24% and NDM-1 (+) was 28%. There was no case in all four sites. Positive-KPC strains were mainly in two sites (4/6 = 66.67%) and positive-NDM-1 strains were mainly in three sites (4/7 = 57.14%). Negative to both KPC and NDM-1 strains were in one site (4/12 = 33.3%) and two sites (6/12 = 50%). CONCLUSIONS: The rate of KPC and NDM-1 was 24% and 28%. In accordance with high antibiotic resistance rates to common antibiotics used in Vietnam, the high rate of transmission possibility between the sites contributed to strengthen the implementation of infection control measures in the ICU setting.


Asunto(s)
Infecciones por Klebsiella , Klebsiella pneumoniae , Humanos , Infecciones por Klebsiella/tratamiento farmacológico , Infecciones por Klebsiella/epidemiología , Infecciones por Klebsiella/microbiología , beta-Lactamasas/genética , Proteínas Bacterianas/genética , Antibacterianos/farmacología , Antibacterianos/uso terapéutico , Control de Infecciones , Unidades de Cuidados Intensivos , Pruebas de Sensibilidad Microbiana
14.
J Dent Res ; 102(7): 814-824, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37204148

RESUMEN

Subclinical hypothyroidism (SCH) has been shown to be associated with microbiota. However, the association between SCH and oral microbiota has not yet been elucidated. The results of our previous clinical studies showed that Prevotella intermedia was abundant in the oral microbiota of SCH patients. This study aimed to investigate the relationship between SCH and oral microbiota, verify the pathogenicity of P. intermedia in SCH, and preliminarily explore the possible mechanism. The SCH mouse model with oral application of P. intermedia was established, and the variance in the mouse oral microbiota and changes in thyroid function and metabolism were detected in mice. Student's t test and analysis of variance were used for statistical analysis. Oral application of P. intermedia changed the composition of the oral microbiota of SCH mice, which enhanced the damage to the thyroid and decreased the expression of functional genes of the thyroid. Moreover, P. intermedia decreased oxygen consumption and aggravated glucose and lipid metabolism disorders in SCH mice. Glucose tolerance and insulin tolerance decreased, and the triglyceride content of the liver and inflammatory infiltration in adipose tissue increased in SCH mice after P. intermedia stimulation. Mechanistically, P. intermedia increased the proportion of CD4+ T cells in cervical lymph nodes and thyroids in SCH mice. Th1 cells were suggested to play an important role in the pathogenesis of SCH involving P. intermedia. In conclusion, P. intermedia aggravated SCH manifestations, including thyroid dysfunction and glucose and lipid metabolism disorders, by causing immune imbalance in mice. This study sheds new light on the pathogenesis of SCH from the perspective of oral microbiota.


Asunto(s)
Hipotiroidismo , Trastornos del Metabolismo de los Lípidos , Ratones , Animales , Prevotella intermedia , Hipotiroidismo/complicaciones , Hipotiroidismo/metabolismo , Trastornos del Metabolismo de los Lípidos/complicaciones , Glucosa
15.
Phys Rev Lett ; 130(18): 181804, 2023 May 05.
Artículo en Inglés | MEDLINE | ID: mdl-37204904

RESUMEN

We study B^{+}→π^{+}π^{0}π^{0} using 711 fb^{-1} of data collected at the ϒ(4S) resonance with the Belle detector at the KEKB asymmetric-energy e^{+}e^{-} collider. We measure an inclusive branching fraction of (19.0±1.5±1.4)×10^{-6} and an inclusive CP asymmetry of (9.2±6.8±0.7)%, where the first uncertainties are statistical and the second are systematic, and a B^{+}→ρ(770)^{+}π^{0} branching fraction of (11.2±1.1±0.9_{-1.6}^{+0.8})×10^{-6}, where the third uncertainty is due to possible interference with B^{+}→ρ(1450)^{+}π^{0}. We present the first observation of a structure around 1 GeV/c^{2} in the π^{0}π^{0} mass spectrum, with a significance of 6.4σ, and measure a branching fraction to be (6.9±0.9±0.6)×10^{-6}. We also report a measurement of local CP asymmetry in this structure.

16.
Phys Rev Lett ; 130(15): 151903, 2023 Apr 14.
Artículo en Inglés | MEDLINE | ID: mdl-37115880

RESUMEN

Using the data sample of 980 fb^{-1} collected with the Belle detector operating at the KEKB asymmetric-energy e^{+}e^{-} collider, we present the results of an investigation of the Λπ^{+} and Λπ^{-} invariant mass distributions looking for substructure in the decay Λ_{c}^{+}→Λπ^{+}π^{+}π^{-}. We find a significant signal in each mass distribution. When interpreted as resonances, we find for the Λπ^{+} (Λπ^{-}) combination a mass of 1434.3±0.6(stat)±0.9(syst) MeV/c^{2} [1438.5±0.9(stat)±2.5(syst) MeV/c^{2}], an intrinsic width of 11.5±2.8(stat)±5.3(syst) MeV/c^{2} [33.0±7.5(stat)±23.6(syst) MeV/c^{2}] with a significance of 7.5σ (6.2σ). As these two signals are very close to the K[over ¯]N threshold, we also investigate the possibility of a K[over ¯]N cusp, and find that we cannot discriminate between these two interpretations due to the limited size of the data sample.

17.
Zhonghua Yi Xue Za Zhi ; 103(26): 1961-1965, 2023 Jul 11.
Artículo en Chino | MEDLINE | ID: mdl-36977560

RESUMEN

With the development of technology and medicine, the mortality rate of intensive care unit (ICU) has declined significantly, and more and more professionals in the medical field are also aware that the disability rate of ICU survivors remains high. More than 70% of ICU survivors have Post-ICU Syndrome (PICS), which is mainly manifested by cognitive, physical, and mental dysfunction, which seriously affects the quality of life of survivors and their caregivers. The COVID-19 pandemic has brought a series of problems such as shortage of medical staff, restricted family visits, and lack of personalized care, which have brought unprecedented challenges to the prevention of PICS and the care of patients with severe COVID-19. In the future, the treatment of ICU patients should change from reducing short-term mortality to improving long-term quality of life of patients, from disease-centered to health-centered, and to practice " the health promotion, the prevention, the diagnosis, the control, the treatment, and the rehabilitation " six-in-one concept to promote comprehensive health care with pulmonary rehabilitation.


Asunto(s)
Cuidados Críticos , Enfermedad Crítica , Humanos , COVID-19/complicaciones , Cuidados Críticos/métodos , Cuidados Críticos/tendencias , Unidades de Cuidados Intensivos/estadística & datos numéricos , Calidad de Vida
18.
Phys Rev Lett ; 130(3): 031901, 2023 Jan 20.
Artículo en Inglés | MEDLINE | ID: mdl-36763394

RESUMEN

We present the study of B[over ¯]^{0}→Σ_{c}(2455)^{0,++}π^{±}p[over ¯] decays based on 772×10^{6} BB[over ¯] events collected with the Belle detector at the KEKB asymmetric-energy e^{+}e^{-} collider. The Σ_{c}(2455)^{0,++} candidates are reconstructed via their decay to Λ_{c}^{+}π^{∓} and Λ_{c}^{+} decays to pK^{-}π^{+}, pK_{S}^{0}, and Λπ^{+} final states. The corresponding branching fractions are measured to be B(B[over ¯]^{0}→Σ_{c}(2455)^{0}π^{+}p[over ¯])=(1.09±0.06±0.07)×10^{-4} and B(B[over ¯]^{0}→Σ_{c}(2455)^{++}π^{-}p[over ¯])=(1.84±0.11±0.12)×10^{-4}, which are consistent with the world average values with improved precision. A new structure is found in the M_{Σ_{c}(2455)^{0,++}π^{±}} spectrum with a significance of 4.2σ including systematic uncertainty. The structure is possibly an excited Λ_{c}^{+} and is tentatively named Λ_{c}(2910)^{+}. Its mass and width are measured to be (2913.8±5.6±3.8) MeV/c^{2} and (51.8±20.0±18.8) MeV, respectively. The products of branching fractions for the Λ_{c}(2910)^{+} are measured to be B(B[over ¯]^{0}→Λ_{c}(2910)^{+}p[over ¯])×B(Λ_{c}(2910)^{+}→Σ_{c}(2455)^{0}π^{+})=(9.5±3.6±1.6)×10^{-6} and B(B[over ¯]^{0}→Λ_{c}(2910)^{+}p[over ¯])×B(Λ_{c}(2910)^{+}→Σ_{c}(2455)^{++}π^{-})=(1.24±0.35±0.10)×10^{-5}. Here, the first and second uncertainties are statistical and systematic, respectively.

19.
Nan Fang Yi Ke Da Xue Xue Bao ; 42(11): 1720-1725, 2022 Nov 20.
Artículo en Chino | MEDLINE | ID: mdl-36504066

RESUMEN

OBJECTIVE: To establish and validate predictive nomogram for liver fibrosis in patients with Wilson disease (WD) showing abnormal lipid metabolism. METHODS: We retrospectively collected the clinical data of 500 patients with WD showing abnormalities in lipid metabolism, who were treated in the Department of Encephalopathy of the First Affiliated Hospital of Anhui University of Chinese Medicine from December, 2018 to December, 2021 and divided into modeling group and validation group. The independent risk factors of liver fibrosis in these patients were screened using LASSO regression and multivariate logistic regression analysis for establishment of the predictive nomogram. The area under the curve (AUC), calibration curve and decision curve of the receiver-operating characteristic curve (ROC) were used for internal and external verification of the nomogram in the modeling and validation group and evaluating the differentiation, calibration and clinical practicability of the model. RESULTS: Triglycerides (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (Apo-B) were independent risk factors for the development of liver fibrosis in patients with WD and abnormal lipid metabolism (P < 0.05). The predictive nomogram showed good discrimination, calibration and clinical utility in both the modeling and validation groups. CONCLUSION: The established predictive nomogram in this study has a high accuracy for early identification and risk prediction of liver fibrosis in patients with WD having abnormal lipid metabolism.


Asunto(s)
Degeneración Hepatolenticular , Humanos , Metabolismo de los Lípidos , Estudios Retrospectivos , Cirrosis Hepática , LDL-Colesterol
20.
Artículo en Chino | MEDLINE | ID: mdl-36058666

RESUMEN

Objective: To diagnose a large family of patients with hereditary angioedema, and to study its inheritance pattern and gene locus. Methods: A retrospective analysis was carried out from August 2021 to February 2022 in a proband (female, 48 years old) and 12 family members who underwent medical history collection and laboratory examinations in the Department of Otorhinolaryngology and Head and Neck Surgery, the Second Hospital of Shanxi Medical University. The clinical data of members and non-affected members [including 7 males and 5 females, aged 12-78 (median 24) years old], were drawn a family map while confirming the diagnosis. Whole exome sequencing technology was used to detect the genetic sequence of the proband and to verify its family members to map the genetic pedigree of the mutation. Results: The inheritance pattern of the family was autosomal dominant, and 8 members of the family were diagnosed with hereditary angioedema by laboratory examination, including 7 cases of type I and 1 case of type Ⅱ. Whole exome sequencing analysis was performed on 2 patients with 2 phenotypes, and it was found that they both carried the same pathogenic mutation locus, which was c.890-2A>G. The family members were verified by next-generation sequencing, and it was found that all members of the family who had a history of edema contained this mutation site, while the younger brother of the proband who had no history of edema did not have this mutation. Conclusion: Both type Ⅰ and type Ⅱ phenotypes are present in this hereditary angioedema family, and the mutation of SERPING1 gene c.890-2A>G causes the onset of each patient in this family.


Asunto(s)
Angioedemas Hereditarios , Angioedemas Hereditarios/genética , Pueblo Asiatico , Femenino , Humanos , Masculino , Mutación , Linaje , Estudios Retrospectivos
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