Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 563
Filtrar
Más filtros

Tipo del documento
Intervalo de año de publicación
1.
Biol Lett ; 20(6): 20230598, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38889774

RESUMEN

Red coralline algae create abundant, spatially vast, reef ecosystems throughout our coastal oceans with significant ecosystem service provision, but our understanding of their basic physiology is lacking. In particular, the balance and linkages between carbon-producing and carbon-sequestering processes remain poorly constrained, with significant implications for understanding their role in carbon sequestration and storage. Using dual radioisotope tracing, we provide evidence for coupling between photosynthesis (which requires CO2) and calcification (which releases CO2) in the red coralline alga Boreolithothamnion soriferum (previously Lithothamnion soriferum)-a marine ecosystem engineer widely distributed across Atlantic mid-high latitudes. Of the sequestered HCO3 -, 38 ± 22% was deposited as carbonate skeleton while 39 ± 14% was incorporated into organic matter via photosynthesis. Only 38 ± 2% of the sequestered HCO3 - was transformed into CO2, and almost 40% of that was internally recycled as photosynthetic substrate, reducing the net release of carbon to 23 ± 3% of the total uptake. The calcification rate was strongly dependent on photosynthetic substrate production, supporting the presence of photosynthetically enhanced calcification. The efficient carbon-recycling physiology reported here suggests that calcifying algae may not contribute as much to marine CO2 release as is currently assumed, supporting a reassessment of their role in blue carbon accounting.


Asunto(s)
Calcificación Fisiológica , Carbono , Fotosíntesis , Rhodophyta , Rhodophyta/fisiología , Rhodophyta/metabolismo , Carbono/metabolismo , Dióxido de Carbono/metabolismo , Ciclo del Carbono , Secuestro de Carbono/fisiología
2.
J Endocrinol Invest ; 47(4): 833-841, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37815751

RESUMEN

BACKGROUND: 21-Hydroxylase deficiency (21-OHD) is caused by pathogenic CYP21A2 variations. CYP21A2 is arranged in tandem with its highly homologous pseudogene CYP21A1P; therefore, it is prone to mismatch and rearrangement, producing different types of complex variations. There were few reports on using only one method to detect different CYP21A2 variants simultaneously. AIMS: Targeted long-read sequencing method was used to detect all types of CYP21A2 variants in a series of patients with 21-OHD. METHODS: A total of 59 patients with 21-OHD were enrolled from Peking Union Medical College Hospital. Long-range locus-specific PCR and long-read sequencing (LRS) were performed to detect the pathogenic variants in CYP21A2. RESULTS: Copy-number variants of CYP21A2 were found in 25.4% of patients, including 5.1% with 3 copies of CYP21A2, 16.9% with 1 copy of CYP21A2, and 3.4% with 0 copy of CYP21A2. The remaining 74.6% of patients had 2 copies of CYP21A2. Pathogenic variants were identified in all 121 alleles of 59 patients. Specifically, single-nucleotide variants and small insertions/deletions (< 50 bp) were detected in 79 alleles, of which conversed from CYP21A1P were detected in 63 alleles, and rare variants were found in the other 16 alleles. Large gene conversions (> 50 bp) from pseudogene were detected in 10 alleles, and different chimeric genes (CYP21A1P/CYP21A2 or TNXA/TNXB) formed by large deletions were detected in 32 alleles. Of all variants, p.I173N was the most common variant (19.0%). CONCLUSIONS: Our study demonstrated that targeted long-read sequencing is a comprehensive method for detecting CYP21A2 variations, which is helpful for genetic diagnosis in 21-OHD patients.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Esteroide 21-Hidroxilasa , Humanos , Esteroide 21-Hidroxilasa/genética , Hiperplasia Suprarrenal Congénita/genética , Mutación , Seudogenes , Tenascina/genética
3.
Ann Vasc Surg ; 2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38942375

RESUMEN

OBJECTIVES: Investigate readmission rates, diagnoses associated with readmission, and associations with mortality through 90-days post-operatively after elective endovascular thoracic and thoracoabdominal aortic repair overall and by extent of coverage. METHODS: A cohort of index elective non-traumatic endovascular thoracic and thoracoabdominal aortic cases from 2010-2018 was derived from the Vascular Implant Surveillance and Interventional Outcomes Network. Cohort readmissions within 90-days postoperative were examined both overall and by Crawford extent (CE) of aortic coverage. Postoperative mortality was examined by reason for readmission and CE. RESULTS: The cohort consisted of 2,093 patients who underwent endovascular thoracic and thoracoabdominal aortic repair (1,541 CE 0A/0B; 240 CE 1-3; 312 CE 4-5). Cumulative risk for 90-day readmission was 34.3% in CE 0A/0B repairs, 33.4% in CE4-5 repairs and 47.4% in CE 1-3 repairs. Compared to CE 0A/B, patients with CE 1-3 repairs experienced an increased risk of readmission within 90 days postoperatively after adjusting for preoperative factors (aHR 1.27(1.00,1.61) while the readmission risk for CE 4-5 repairs did not differ significantly (aHR 0.83 (0.64,1.06). Significant risk factors for 90-day readmission included COPD, dialysis dependence, limited ambulation, visceral/spinal ischemia, and in-hospital stroke. Discharge to home was protective against readmission (HR 0.65, CI 0.54-0.79). Patients with a readmission within 90-days had a 7.89-fold increase in 90-day mortality (HR 7.84; 5.17, 11.9) compared to those not readmitted. CONCLUSIONS: Increasing extent of endovascular thoracic and thoracoabdominal aortic repair was associated with higher 90-day readmission rates. Readmission for all CE was associated with near 8-fold increased risk of mortality. Risk factors associated with increased risk for readmission included pulmonary insufficiency, renal disease, and poor functional status. These findings can inform stakeholders about investment of resources to improve processes of care that both target prevention and mitigate risk of readmission after elective endovascular thoracic and thoracoabdominal aortic repair.

4.
Zhonghua Yi Xue Za Zhi ; 104(16): 1363-1366, 2024 Apr 23.
Artículo en Zh | MEDLINE | ID: mdl-38644285

RESUMEN

Hereditary kidney disease is an important cause of chronic kidney disease in children. With the progress of genome sequencing, single-cell technology, and organoid cultures, the research on hereditary kidney disease has entered a new era. How to integrate big data resources, discover new disease-causing genes, and develop effective treatment methods will be the focus of future research. This article discusses the classification, research progress, challenges and prospects of pediatric hereditary kidney disease, so as to provide valuable insights into the research of hereditary kidney disease in children.


Asunto(s)
Enfermedades Renales , Humanos , Niño , Enfermedades Renales/genética , Insuficiencia Renal Crónica/genética
5.
Zhonghua Yi Xue Za Zhi ; 104(6): 450-452, 2024 Feb 06.
Artículo en Zh | MEDLINE | ID: mdl-38326058

RESUMEN

To analyze the clinical features of patients with anterior hypopituitarism (HP) complicated with cirrhosis, and to explore the effects of growth hormone supplementation on liver and lung function. A total of 11 patients with HP complicated with cirrhosis admitted to Peking Union Medical College Hospital from January 2016 to December 2022 were included in the study, including 8 males and 3 females, aged [M(Q1, Q3)]31 (20, 37) years. There were 6 patients with pituitary stalk interruption syndrome, 4 patients after craniopharyngioma resection, and 1 patient after germinal cell tumor chemoradiotherapy. Cirrhosis appeared at [M(Q1, Q3)]7 (1, 16) years after the diagnosis of HP. There were 7 cases complicated with hepatopulmonary syndrome (HPS). The liver and lung function of 5 patients were improved significantly after the addition of growth hormone, and the arterial partial pressure of oxygen increased from (47±11) mmHg(1 mmHg=0.133 kPa) to (84±12) mmHg. Timely supplementation of growth hormone can improve the symptoms of fatty liver, cirrhosis and HPS, and postpone or even avoid the transplantation of liver and other organs.


Asunto(s)
Síndrome Hepatopulmonar , Hormona de Crecimiento Humana , Hipopituitarismo , Neoplasias Hipofisarias , Humanos , Masculino , Femenino , Anciano , Hormona del Crecimiento , Cirrosis Hepática , Hipopituitarismo/complicaciones , Hipopituitarismo/patología , Síndrome Hepatopulmonar/complicaciones , Síndrome Hepatopulmonar/diagnóstico , Pulmón/patología , Suplementos Dietéticos
6.
Artículo en Zh | MEDLINE | ID: mdl-38311953

RESUMEN

Objective: Through the analysis of five cases of occupational heat illness caused by high temperature, we expounded the pathogenesis and summarized the clinical characteristics of heat cramp and heat exhaustion of the newly revised diagnostic criteria for occupational heat illness (GBZ41-2019), in order to prevent the occurrence of occupational heat illness to put forward controllable countermeasures. Methods: According to the occupational history, clinical diagnosis and treatment and the other relevant data submitted by five patients, the diagnosis process was analyzed and summarized. Results: Five patients developed symptoms from July to August in summer, belonging to high-temperature operation. They improved by timely treatment. The symptoms, signs and laboratory tests of the five patients were different, but they were diagnosed as occupational heat illness. Conclusion: Employers should pay attention to the high temperature protection and cooling work, and strengthen the labor protection. If patients with heat cramp and heat exhaustion were timely treated, they could basically recover. Occupational disease diagnosticians should seriously study the new diagnostic criteria of occupational disease and constantly improve their diagnostic ability.


Asunto(s)
Agotamiento por Calor , Trastornos de Estrés por Calor , Enfermedades Profesionales , Humanos , Agotamiento por Calor/complicaciones , Agotamiento por Calor/diagnóstico , Agotamiento por Calor/prevención & control , Trastornos de Estrés por Calor/diagnóstico , Trastornos de Estrés por Calor/etiología , Trastornos de Estrés por Calor/prevención & control , Enfermedades Profesionales/diagnóstico , Enfermedades Profesionales/complicaciones , Calor
7.
Zhonghua Yi Xue Za Zhi ; 103(5): 311-314, 2023 Feb 07.
Artículo en Zh | MEDLINE | ID: mdl-36740387

RESUMEN

Methimazole is the most commonly used medication for hyperthyroidism with good effects and little adverse reactions. However, improper selection of initial dose will affect the efficacy, such as excessive dose is proven to various adverse reactions; insufficient dose can hardly achieve desired efficacy. Based on the literature and personal clinical experience, the author discusses the following clinical issues related to methimazole in the treatment of hyperthyroidism, including the selection of initial dose, dose adjustment and withdrawal of methimazole, drug therapy for patients with liver function injury, and management strategies for methimazole-related adverse reactions.


Asunto(s)
Hipertiroidismo , Metimazol , Humanos , Metimazol/uso terapéutico , Metimazol/efectos adversos , Antitiroideos/uso terapéutico , Hipertiroidismo/tratamiento farmacológico
8.
Bull Exp Biol Med ; 174(5): 653-658, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37052857

RESUMEN

We studied the effect of CCDC3 on the viability of human breast cancer cell line MDA-MB-231. The levels of CCDC3 mRNA and the corresponding protein in MDA-MB-231, MCF-7, T-47D, and HCC1937 cell lines were measured by reverse transcription quantitative real-time PCR and Western blotting. Since MDA-MB-231 cells had higher expression of mRNA CCDC3 and CCDC3 protein, we used this cell line for transfection with small interfering RNA by lentivirus. Cell Counting Kit-8 and clone formation assay were used to detect the effects of CCDC3 knockdown on cell viability; flow cytometry was used to detect the effects of CCDC3 knockdown on cell apoptosis and cell cycle. In MDA-MB-231 cell line, the CCDC3 protein level was significantly down-regulated after CCDC3 knockdown in comparison with the control group (p<0.05). The cell viability and the number of clones in the CCDC3 knockdown group were significantly reduced (p<0.05), while the apoptosis rate significantly increased (p<0.05). Thus, after CCDC3 knockdown, cell viability is weakened in MDA-MB-231 cells, and cell apoptosis rate is increased. Therefore, CCDC3 gene is promising as a new candidate target for BC treatment.


Asunto(s)
Neoplasias de la Mama , Humanos , Femenino , Línea Celular Tumoral , Neoplasias de la Mama/genética , Proliferación Celular/genética , ARN Interferente Pequeño/genética , ARN Mensajero/metabolismo , Apoptosis/genética , Regulación Neoplásica de la Expresión Génica , Proteínas/genética , Proteínas/metabolismo
9.
Beijing Da Xue Xue Bao Yi Xue Ban ; 54(4): 652-657, 2022 Aug 18.
Artículo en Zh | MEDLINE | ID: mdl-35950387

RESUMEN

OBJECTIVE: To analyze the clinical treatment results of male infertility caused by Y chromosome azoospermia factor c region(AZFc) deletion after synchronous micro-dissection testicular sperm extraction (micro-TESE) and intracytoplasmic sperm injection (ICSI) and to guide the treatment of infer- tile patients caused by AZFc deletion. METHODS: The clinical data of infertile patients with AZFc deletion who underwent synchronous micro-TESE in Peking University Third Hospitalfrom January 2015 to December 2019 were retrospectively analyzed. The clinical outcomes of ICSI in the patients who successfully obtained sperm were followed up and we compared the outcomes between the first and second synchronous procedures, including fertilization rate, high-quality embryo rate, clinical pregnancy rate, abortion rate and live birth rate. RESULTS: A total of 195 male infertile patients with AZFc deletion underwent micro-TESE. Fourteen patients were cryptozoospermia and their sperms were successfully obtained in all of them during the operation, and the sperm retrieval rate (SRR) was 100%(14/14). The remaining 181 cases were non obstructive azoospermia, and 122 cases were successfully found the sperm, the SRR was 67.4%(122/181). The remaining 59 patients with NOA could not found mature sperm during micro-TESE, accounting for 32.6% (59/181). We followed up the clinical treatment outcomes of the patients with successful sperm retrieved by synchronous micro-TESE and 99 patients were enrolled in the study. A total of 118 micro-TESE procedures and 120 ICSI cycles were carried out. Finally 38 couples successfully gave birth to 22 male and 22 female healthy infants, with a cumulative live birth rate of 38.4% (38/99). In the fresh-sperm ICSI cycle of the first and second synchronous operation procedures, the high-quality embryo rate, clinical pregnancy rate of the fresh embryo transfer cycle and live birth rate of the oocyte retrieve cycle were 47.7% vs. 50.4%, 40.5% vs. 50.0%, and 28.3% vs. 41.2%, respectively. The second operation group was slightly higher than that of the first synchronous operation group, but there was no significant difference between the groups. CONCLUSION: Male infertility patients caused by AZFc deletion have a high probability of successfully obtaining sperm in testis through micro-TESE for ICSI and give birth to their own offspring with their own biological characteristics. For patients who failed in the first synchronous procedure, they still have the opportunity to successfully conceive offspring through reoperation and ICSI.


Asunto(s)
Azoospermia , Infertilidad Masculina , Azoospermia/genética , Azoospermia/terapia , Deleción Cromosómica , Cromosomas Humanos Y , Femenino , Humanos , Infertilidad Masculina/genética , Infertilidad Masculina/terapia , Masculino , Embarazo , Estudios Retrospectivos , Semen , Aberraciones Cromosómicas Sexuales , Trastornos de los Cromosomas Sexuales del Desarrollo Sexual , Inyecciones de Esperma Intracitoplasmáticas/métodos , Recuperación de la Esperma , Espermatozoides , Testículo
10.
Zhonghua Wai Ke Za Zhi ; 60(3): 230-236, 2022 Mar 01.
Artículo en Zh | MEDLINE | ID: mdl-35078298

RESUMEN

Objective: To investigate the clinical efficacy of long-segment pedicle screw reduction and internal fixation combined with kyphoplasty in the treatment of stage Ⅲ reducible Kummell disease. Methods: The clinical data of 32 patients with stage Ⅲ reducible Kummell disease treated at the Department of Orthopedics, Sir Run Run Shaw Hospital, Zhejiang University College of Medicine from January 2012 to March 2017 were analyzed retrospectively.There were 7 males and 25 females,aged (71.8±6.7)years(range:61 to 86 years).The injured segment was T10 in 1 patient,T11 in 8 patients,T12 in 13 patients,L1 in 7 patients,L2 in 2 patients and L3 in 1 patient.Preoperative American spinal injury association(ASIA) classification of patients all showed grade D.Bone mineral density (BMD),spinal X-ray,CT and MRI were examined before operation.All patients were treated with postural reduction, long-segment pedicle screw reduction and internal fixation combined with kyphoplasty.The operation time,intraoperative blood loss,length of stay and postoperative complications were recorded.The visual analogue scale (VAS) and Oswestry dysfunction index (ODI) as well as the BMD of hip were collected before and after operation.The Cobb angle of involved segment kyphosis and the height of anterior edge of diseased vertebrae were measured before operation,3 days and 12 months after operation.CT-related parameters were measured before and 3 days after operation,including sagittal anterior and posterior diameter of spinal canal,cross-sectional anterior and posterior diameter of spinal canal and cross-sectional spinal canal area.Paired sample t test and repeated measures were used to compare the data before and after operation. Results: All patients received the operation successfully.The operation time was (131.3±16.9) minutes (range:95 to 180 minutes),the blood loss was (82.5±27.1) ml (range:50 to 150 ml),and the length of stay was (8.3±2.4) days (range:5 to 14 days).All patients were followed up for more than 12 months.The VAS decreased gradually at 3 days,3 months,6 months and 12 months after operation,and the differences were statistically significant compared with the VAS before surgery (all P<0.01).ODI at 3,6 and 12 months after surgery was significantly improved compared with that before surgery(All P<0.01).The CT-related parameters at 3 days after operation were significantly higher than those before operation (All P<0.05).At 12 months after surgery,the Cobb angle decreased from (35.2±7.6) ° preoperatively to (4.3±1.7) ° (t=22.630,P<0.01),the height of anterior edge of diseased vertebrae increased from (4.3±1.0) mm preoperatively to (16.9±2.5) mm(t=-25.845,P<0.01),the bone mineral density of hip increased from -(2.2±0.6) preoperatively to -(2.8±0.6)(t=-0.040,P<0.01).Up to the last follow-up,2 patients had distal pedicle screw loosening, 1 patient had proximal junctional kyphosis,and there was no new vertebral fracture. Conclusions: Based on postural reduction,long-segment pedicle screw reduction and internal fixation combined with kyphoplasty is a safe and effective treatment method for stage Ⅲ reducible Kummell disease,which can reconstruct the stability of the diseased vertebrae.Postoperative standard anti-osteoporosis treatment is the basis to ensure the efficacy.


Asunto(s)
Cifoplastia , Tornillos Pediculares , Fracturas de la Columna Vertebral , Anciano , Estudios Transversales , Femenino , Fijación Interna de Fracturas , Humanos , Vértebras Lumbares/cirugía , Masculino , Estudios Retrospectivos , Fracturas de la Columna Vertebral/cirugía , Vértebras Torácicas/cirugía , Resultado del Tratamiento
11.
Niger J Clin Pract ; 25(7): 1143-1148, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35859476

RESUMEN

Background: The optimal management of intra-articular calcaneal fractures is still controversial. Open reduction and internal fixation are always associated with serious complications. Aim: Various alternative methods have been used with variable effects. This retrospective study aimed to analyze the clinical efficacy and safety of a new "below-the-ankle" Ilizarov frame in patients with calcaneal fractures caused by high-energy trauma. Patients and Methods: We retrospectively explored ten patients with calcaneal fractures, of which four, five, and one were Sanders type II, III, and IV, respectively. All fractures were caused by high-energy trauma and were followed up for an average period of 21 months (range: 9-29 months). Clinical outcomes were primarily assessed by radiological criteria, functional scores of the foot and ankle, rate of complications, and ankle range of movement. Results: The Ilizarov frame was removed after an average period of 12 weeks (range: 11-15 weeks). Only two patients developed pin-tract infections, and none developed osteomyelitis, deep infections, neurovascular injury, malunion, and ankle arthrodesis. Based on the radiological assessment of the reduction of the subtalar joint and fracture fragments, all patients had excellent restored joint structure, with eight and two patients having good-to-excellent and fair ankle scores, respectively. The ranges of plantarflexion and dorsiflexion were 25°-43° and 8°-22°, respectively. Conclusion: The Ilizarov frame could be safe and effective for calcaneal fractures caused by high-energy trauma. This treatment protocol provides an effective approach to treat severe calcaneal fractures caused by high-energy events; however, long-term outcomes are still unknown.


Asunto(s)
Traumatismos del Tobillo , Calcáneo , Fracturas Óseas , Articulación Talocalcánea , Tobillo , Calcáneo/lesiones , Calcáneo/cirugía , Fracturas Óseas/diagnóstico por imagen , Fracturas Óseas/cirugía , Humanos , Estudios Retrospectivos , Articulación Talocalcánea/cirugía , Resultado del Tratamiento
12.
Zhonghua Yi Xue Za Zhi ; 101(2): 127-130, 2021 Jan 12.
Artículo en Zh | MEDLINE | ID: mdl-33455128

RESUMEN

Objective: To analyze the prevalence and the related factors of dyslipidemia in 21-hydroxylase deficiency (21-OHD) patients. Methods: A total of 205 patients with 21-OHD were recruited in Peking Union Medical College Hospital from January 2016 to January 2018. The basic information, glucocorticoid replacement therapy, and laboratory examination results of patients were obtained from medical records. The genotypes of CYP21A2 were identified by Sanger sequencing and multiplex ligation dependent probe amplification. The prevalence of dyslipidemia among 21-OHD patients, basic information and related hormone levels of 21-OHD patients with different status of blood lipid were described. Logistic regression model was used to analyze the related factors of dyslipidemia in 21-OHD patients. Results: The age of subjects was 17.0 (8.3, 25.0) years old, including 51 males (24.9%). According to CYP21A2 genotypes, there were 16 cases in Null group, 26 cases in Group A, 105 cases in group B, 27 cases in group C, and 31 cases in group D. The incidence of dyslipidemia was 29.3% (60/205), among which 37.3% (19/51) in male and 26.6% (41/154) in female patients, respectively. The M (Q1, Q3) of total cortisol level (nmol/L) and body mass index (kg/m2) of male 21-OHD patients with dyslipidemia were 0.17 (0.06, 0.35) and 25.76 (17.01, 30.45), respectively, which were higher than those with ortholiposis [0.04 (0.02, 0.21) and 18.83 (16.53, 23.88)] (all P<0.05). The M (Q1, Q3) of progesterone level (nmol/L), body mass index (kg/m2) and age (years) of female 21-OHD patients with dyslipidemia were 74.40 (50.97, 98.52), 23.09 (21.78, 27.78) and 23.00 (16.50, 28.00), respectively, which were higher than those with ortholiposis [52.81 (33.41, 68.85), 21.55 (18.63, 25.71) and 18.00 (9.50, 25.00)] (all P<0.05). The risk of dyslipidemia increased by 5.0% [OR (95%CI): 1.05 (1.01, 1.09)] for every 1 nmol/L increase of progesterone. Conclusion: The incidence of dyslipidemia is high in 21-OHD patients, and progesterone level is positively correlated with dyslipidemia.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Dislipidemias , Hiperplasia Suprarrenal Congénita/epidemiología , Adulto , Dislipidemias/epidemiología , Femenino , Humanos , Masculino , Prevalencia , Esteroide 21-Hidroxilasa
13.
Zhonghua Yi Xue Za Zhi ; 101(35): 2760-2765, 2021 Sep 21.
Artículo en Zh | MEDLINE | ID: mdl-34551491

RESUMEN

Objective: To analyze the differences in clinical and biochemical characteristics and treatment effects in patients with different genotypes of Prader-Willi syndrome (PWS). Methods: A total of 35 patients with PWS, 20 males and 15 females aged from 0.8 to 10.0 years with an average age of 3.0 years, were retrospectively included in this study. All of them were treated in the Department of Endocrinology of Peking Union Medical College Hospital from May 2017 to December 2018. The clinical material, biochemical data, and peripheral blood samples of the patients were collected. Genomic DNA was extracted from peripheral blood leukocytes of patients, and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was used to detect gene deletion or abnormal methylation. According to the results of detection, 35 patients were divided into two groups: paternal deletion group(n=27) and methylation abnormal group(n=8). The biochemical test results and the effect of growth hormone (GH) treatment of the two groups were analyzed. Results: MS-MLPA showed that 77% (27/35) of the patients were confirmed paternal deletion and 23% (8/35) were abnormal methylation. In terms of biochemical test results, the plasma concentrations of uric acid(UA) in the paternal deletion group were higher than that in the abnormal methylation group [(363±101) µmol/L vs (259±74) µ mol/L, P=0.019 ]. There is a linear relationship between body weight and uric acid level. After adjustment for weight., there was no significant difference in UA level between the two groups (P=0.101). Patients in both groups were treated with GH ((0.14±0.03) U/kg, QD). In paternal deletion group, patients were followed up for (26.0±13.6) months, and their height increased from (99.0±31.5) cm [(-0.3±1.1) SDS] to (107.5±27.0) cm [(0.7±0.9) SDS] (P=0.037). In the abnormal methylation group, patients were followed up for (25.8±11.6) months, and their height increased from (86.4±31.2) cm [(-0.7±1.8) SDS] to (95.6±26.5) cm [(0.0±1.6) SDS] (P=0.557). There was no significant difference in body mass index (BMI) between paternal deletion group and abnormal methylation group before and after treatment [(22.0±7.1) vs (22.4±6.8)] kg/m2, P=0.890;(17.0±3.1) vs (16.4±2.7) kg/m2, P=0.754]. Conclusions: There were no significant differences in biochemical test results between patients with paternal deletion and those with abnormal methylation. Early treatment with GH in PWS patients can effectively improve the increasing height and reduce excessive weight gain.


Asunto(s)
Síndrome de Prader-Willi , Preescolar , Femenino , Eliminación de Gen , Genotipo , Humanos , Masculino , Reacción en Cadena de la Polimerasa Multiplex , Síndrome de Prader-Willi/genética , Estudios Retrospectivos
14.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(1): 123-129, 2021 Jan 06.
Artículo en Zh | MEDLINE | ID: mdl-33455144

RESUMEN

Allergic diseases have continued to increase year by year causing serious physical and mental injury to patients, families and individuals. This increase has been driven by conventional environmental and nutritional changes but is also created by the continual introduction of food additives into the diet and novel interior decoration materials into the living space. The causes of allergic diseases are complex and diverse, and the medical laboratory often is not be able to identify the allergic trigger; this creates a difficult environment to identify the appropriate clinical treatment for disease prevention and control. Physicians must be able to identify these triggers to help patients avoid the underlying allergenic cause of their disease. This can only be done by actively knowing a patient's medical history, identifying the clinical manifestations of hypersensitivity and utilizing confirmatory testing as an important clinical tool in identifying the allergic source.


Asunto(s)
Hipersensibilidad a los Alimentos , Hipersensibilidad , Alérgenos , Dieta , Hipersensibilidad a los Alimentos/diagnóstico , Humanos , Hipersensibilidad/diagnóstico
15.
Zhonghua Wai Ke Za Zhi ; 59(10): 875-880, 2021 Oct 01.
Artículo en Zh | MEDLINE | ID: mdl-34619915

RESUMEN

Hepatocellular carcinoma(HCC) is one of the most common malignant tumors of the digestive system in the clinic. In recent years, the proposal and development of immunotherapy have set off a worldwide anticancer upsurge. In particular, programmed death receptor 1(PD-1) and programmed death receptor ligand 1(PD-L1) inhibitor have been used in a wide variety of tumor diseases and achieved good curative effect. However, the application of PD-1 or PD-L1 inhibitors in HCC is mostly still at the stage of clinical trials, and some clinical trials have shown gratifying results in patients with advanced HCC and postoperative recurrence. More studies have shown that PD-1 or PD-L1 inhibitors combined with radiofrequency, chemoradiotherapy, and molecular targeted drugs can bring greater benefits to patients.


Asunto(s)
Carcinoma Hepatocelular , Neoplasias Hepáticas , Carcinoma Hepatocelular/tratamiento farmacológico , Humanos , Inhibidores de Puntos de Control Inmunológico , Neoplasias Hepáticas/tratamiento farmacológico , Recurrencia Local de Neoplasia , Receptor de Muerte Celular Programada 1
16.
Niger J Clin Pract ; 24(11): 1649-1655, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34782504

RESUMEN

BACKGROUND: Gingival enlargement (GE) is one of the most common soft tissue problems encountered during fixed orthodontic treatment. Aims: This study aimed to evaluate the factors affecting GE in adolescents and young adults, compared with their normal peers. SUBJECTS AND METHODS: This is a cross-sectional comparative study. The sample consisted of 329 subjects (ages 10-30 years) of both genders, which was divided into four main groups: The control group (G0) with no orthodontic treatment; subjects who underwent orthodontic treatment were divided according to treatment duration into G1 (4-12 months), G2 (13-24 months), and G3 (>24 months). The clinical examinations included the level of debris, calculus (simplified oral hygiene), and GE indices. Regression analyses were used to assess the GE association in all the studied groups. RESULTS: The mean GE score increased significantly with increased treatment duration (0.42 ± 0.29 for G0 and 1.03 ± 0.52 for G3). GE scores of the lower arch were significantly higher in the anterior segment than in the posterior segment among all treatment groups. Regression analysis revealed that gender, age, oral hygiene, and treatment duration had a significant effect on GE (P < 0.05), while angle classification, overjet, overbite, treatment stage, bracket type, and therapeutic extraction did not show significant associations (P > 0.05). CONCLUSION: Gender, age, oral hygiene, and treatment duration were the most important risk factors for GE during fixed orthodontic treatment.


Asunto(s)
Sobrecrecimiento Gingival , Maloclusión Clase II de Angle , Sobremordida , Adolescente , Adulto , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Aparatos Ortodóncicos , Ortodoncia Correctiva/efectos adversos , Adulto Joven
17.
J Endocrinol Invest ; 43(1): 43-51, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31264141

RESUMEN

PURPOSE: The association between iodine intake and thyroid autoimmunity has been debated, especially in pregnant women. This study aimed to investigate thyroid autoantibodies and their association with iodine intake and hypothyroidism in early pregnancy. METHODS: 7073 early pregnant women from an iodine-sufficient region participated in this study. Urinary iodine concentrations (UICs) were measured using an ammonium persulfate method. Serum thyroid peroxidase antibody (TPOAb), thyroglobulin antibody (TgAb), thyroid-stimulating hormone (TSH), free thyroxine (FT4), and Tg were determined using an electrochemiluminescence immunoassay. RESULTS: Iodine deficiency (UIC < 100 µg/L) was associated with higher risks of TPOAb positivity [adjusted odds ratio (aOR) = 1.64, 95% confidence interval [CI] (1.29-2.08)] and TgAb positivity [aOR = 1.44, 95% CI (1.16-1.80)]. Women with isolated TPOAb positivity, isolated TgAb positivity, or both TPOAb and TgAb positivity had a 14.64-fold, 7.83-fold, and 44.69-fold increased risk of overt hypothyroidism, and a 4.36-fold, 2.86-fold, and 6.26-fold increased risk of subclinical hypothyroidism, respectively. Moreover, the risks of overt and subclinical hypothyroidism in women with a high TPOAb titer were 16.99 and 4.80 times that in TPOAb-negative women, respectively. The risk of overt hypothyroidism in women with a high TgAb titer was 6.97 times that in TgAb-negative women. CONCLUSIONS: Our work demonstrates that iodine deficiency during early pregnancy is an independent risk factor for both TPOAb positivity and TgAb positivity. Furthermore, positivity for both autoantibodies and a high thyroid autoantibody titer are associated with significantly higher risks of overt and subclinical hypothyroidism.


Asunto(s)
Autoanticuerpos/sangre , Biomarcadores/sangre , Hipotiroidismo/diagnóstico , Yodo/deficiencia , Hormonas Tiroideas/sangre , Adulto , Antiinfecciosos Locales/administración & dosificación , Antiinfecciosos Locales/metabolismo , Autoanticuerpos/inmunología , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Hipotiroidismo/sangre , Hipotiroidismo/inmunología , Yodo/administración & dosificación , Embarazo , Pronóstico , Adulto Joven
18.
Anim Genet ; 51(6): 964-967, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32996213

RESUMEN

The small yellow croaker (Larimichthys polyactis) is one of the most commercially exploited marine fishes along the coast of the Yellow-Bohai Sea and the East China Sea. In this study, we used next-generation high-throughput 2b-RAD-seq technology to identify novel SNPs in L. polyactis. We scored a total of 1 374 008 putative SNPs genome-wide. Further filtration yielded a final dataset of 6457 high-quality SNPs. These SNP markers presented sufficient power in detecting genetic distinction between two wild samples from the Yellow-Bohai Sea and one captive sample from the East China Sea, and inbreeding reflected by strong heterozygote deficiency within the samples; some of the genetic polymorphisms are diagnostic among the samples and related to biological functions. The panel of SNPs could be used as powerful tools in further population genetic and stock assessment research in L. polyactis as it has relatively scarce genomic resources. The findings from this study will advance our understanding of population and functional genomics for facilitating fishery resource management and developing desirable characteristics for the benefit of culture and farming of L. polyactis.


Asunto(s)
Genética de Población , Perciformes/genética , Polimorfismo de Nucleótido Simple , Animales , Conjuntos de Datos como Asunto
19.
Int Endod J ; 53(6): 824-833, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32053733

RESUMEN

AIM: To evaluate the antibiofilm effect of proanthocyanidin (PA) solution as an irrigant against Enterococcus faecalis (E. faecalis) and its influence on the mechanical properties and biodegradation resistance of demineralized root dentine. METHODOLOGY: Enterococcus faecalis were introduced into human root dentine tubules by a serial centrifugation method and grown for 1 week. Dentine blocks infected with 1-week-old E. faecalis biofilms were treated with the following irrigants: sterile water (control), 2% chlorhexidine (CHX), 2% PA, 5% PA and 10% PA. After treatment, the live and dead bacteria proportions within E. faecalis biofilms were analysed using confocal laser scanning microscopy. To evaluate the biostability of fully demineralized dentine treated by the aforementioned irrigants, the elastic modulus and hydroxyproline release of human dentine incubated in collagenase solution were tested at baseline, after irrigant treatment and after biodegradation, respectively. Furthermore, the surface chemical bond of demineralized dentine collagen treated by various irrigants was characterized by X-ray photoelectron spectroscopy (XPS). Statistical analysis was performed using one-way anova and Tukey's post hoc multiple comparisons with the significance level at 5%. RESULTS: The proportion of dead E. faecalis volume was significantly higher in the PA and CHX groups than that in the control group (P < 0.05). PA irrigation significantly increased the mechanical properties of demineralized dentine (P < 0.05), and the effect was enhanced with increasing PA concentration. CHX and PA groups had significantly less elasticity loss and hydroxyproline release (P < 0.05). The biomodification of dentine collagen by PA was verified by increased C-O/C-N peak percentage under C1s and C-O peak percentage under O1s narrow-scan XPS spectra. CONCLUSIONS: Proanthocyanidin killed E. faecalis within biofilms and enhanced the biostability of the collagen matrix of demineralized root dentine. It might be used as an auxiliary endodontic irrigant with antibiofilm and collagen-stabilizing effects.


Asunto(s)
Proantocianidinas , Irrigantes del Conducto Radicular , Biopelículas , Clorhexidina , Colágeno , Dentina , Enterococcus faecalis , Humanos , Microscopía Confocal
20.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(4): 642-645, 2020 Aug 18.
Artículo en Zh | MEDLINE | ID: mdl-32773793

RESUMEN

OBJECTIVE: To evaluate the utility of transurethral seminal vesiculoscopy with a slender ureteroscope in the treatment of severe oligoasthenozoospermia secondary incomplete ejaculatory duct obstruction (EDO). METHODS: From March 2018 to September 2018, the clinical data of 8 patients with severe oligoasthenozoospermia secondary incomplete EDO treated by the technique of transurethral seminal vesiculoscopy in the Peking University Third Hospital Reproductive Center were analyzed. Preoperative routine included semen analysis, hormone determination, transrectal ultrasonography, pelvic magne-tic resonance examination and other examinations. All the patients were diagnosed with severe oligoasthenozoospermia secondary to incomplete EDO. All the patients were operated by the same surgeon with multiple cases of experience in transurethral surgery, and 1 year follow-up was conducted to evaluate the surgical effect. RESULTS: The average age of the 8 patients was 29 years, and the average operation time was 32 min. Preoperative transrectal ultrasound indicated 6 cases of ejaculatory duct cyst or Mullerian cyst, 1 case of prostate calcification and bilateral seminal vesicle dilatation. The average maximum transverse diameter of the right seminal vesicle in pelvic MRI was 33.60 mm (24.63-42.28 mm), the average maximum transverse diameter of the left seminal vesicle was 32.85 mm (25.91-44.89 mm), the ave-rage maximum antero-posterior diameter was 27.99 mm (21.36-33.12 mm), the average maximum width of the seminal vesicle duct was 10.53 mm (5.93-19.39 mm). There were 5 cases of ejaculatory duct cyst, 2 cases of seminal vesicle hemorrhage, and 1 case of Mullerian cyst. The semen volume [(2.64±0.80) mL], the sperm concentration [(49.76±8.50)×106/mL], and the motility (grade a+b) [(25.76±6.48)%] in postoperation were significantly higher than those in preoperation [(1.46±0.50) mL, (28.78±5.17)×106/mL, and (2.88±0.93)%, P < 0.05]. Two patients conceived naturally during the follow-up of 6 months after surgery. There were no severe complications, such as retrograde ejaculation, urinary incontinence or rectal injury. CONCLUSION: The technique of transurethral seminal vesiculoscopy is safe and effective for treating severe oligoasthenozoospermia secondary to incomplete EDO. However, due to the small sample size of this study, short follow-up time, and the uncertainty in seminal vesicle surgery, it still needs to be further confirmed by long-term follow-up studies with large samples.


Asunto(s)
Conductos Eyaculadores , Enfermedades de los Genitales Masculinos , Adulto , Humanos , Masculino , Análisis de Semen , Vesículas Seminales , Ultrasonografía
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA