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1.
Zhonghua Er Ke Za Zhi ; 61(12): 1098-1102, 2023 Dec 02.
Artículo en Chino | MEDLINE | ID: mdl-38018047

RESUMEN

Objective: To summarize the clinical characteristics of tumour necrosis factor receptor-associated periodic syndrome (TRAPS) in children. Methods: The clinical manifestations, laboratory tests, genetic testing and follow-up of 10 children with TRAPS from May 2011 to May 2021 in 6 hospitals in China were retrospectively analyzed. Results: Among the 10 patients with TRAPS, including 8 boys and 2 girls. The age of onset was 2 (1, 5) years, the age of diagnosis was (8±4) years, and the time from onset to diagnosis was 3 (1, 7) years. A total of 7 types of TNFRSF1A gene variants were detected, including 5 paternal variations, 1 maternal variation and 4 de novo variations. Six children had a family history of related diseases. Clinical manifestations included recurrent fever in 10 cases, rash in 4 cases, abdominal pain in 6 cases, joint involvement in 6 cases, periorbital edema in 1 case, and myalgia in 4 cases. Two patients had hematological system involvement. The erythrocyte sedimentation rate and C-reactive protein were significantly increased in 10 cases. All patients were negative for autoantibodies. In the course of treatment, 5 cases were treated with glucocorticoids, 7 cases with immunosuppressants, and 7 cases with biological agents. Conclusions: TRAPS is clinically characterized by recurrent fever accompanied by joint, gastrointestinal, skin, and muscle involvement. Inflammatory markers are elevated, and autoantibodies are mostly negative. Treatment mainly involves glucocorticoids, immunosuppressants, and biological agents.


Asunto(s)
Fiebre Mediterránea Familiar , Enfermedades Autoinflamatorias Hereditarias , Masculino , Niño , Femenino , Humanos , Preescolar , Receptores Tipo I de Factores de Necrosis Tumoral/genética , Estudios Retrospectivos , Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Enfermedades Autoinflamatorias Hereditarias/genética , Enfermedades Autoinflamatorias Hereditarias/tratamiento farmacológico , Glucocorticoides/uso terapéutico , Factores Biológicos/uso terapéutico , Inmunosupresores/uso terapéutico , Autoanticuerpos , Fiebre Mediterránea Familiar/diagnóstico , Mutación
2.
Zhonghua Er Ke Za Zhi ; 60(12): 1266-1270, 2022 Dec 02.
Artículo en Chino | MEDLINE | ID: mdl-36444428

RESUMEN

Objective: To summarize the clinical characteristics and provide clues for early identification of non-inflammasome related conditions. Methods: The clinical manifestations, laboratory tests, genetic testing and follow-up of 49 children with non-inflammasome related conditions in Peking Union Medical College Hospital from January 2006 to February 2022 were retrospectively analyzed. Results: A total of 49 children, 29 of them were boys and 20 were girls. The age of onset was 0.8 (0.3, 1.6) years, the age at diagnosis was 5.7 (2.8, 8.8) years, and the time from onset to diagnosis was 3.6 (1.9, 6.3) years. Combined with genetic testing results, 49 children with non-inflammasome related conditions were found, including 34 cases (69%) of Blau syndrome, 4 cases (8%) of tumour necrosis factor receptor-associated periodic syndrome, 4 cases (8%) of haploinsufficiency of A20, 2 cases (4%) of Majeed syndrome, 2 cases (4%) of pyogenic sterile arthritis, pyoderma gangrenosum, acne syndrome and 3 cases (6%) of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome. There were 22 cases (45%) with a positive family history. The clinical manifestations included 37 cases (76%) cases with rash, 38 cases (78%) with joint involvement, 33 cases (67%) with eye involvement, 17 cases (35%) with recurrent fever. In addition, 11 cases (22%) were complicated with digestive system involvement. Thirty cases (61%) presented as elevated inflammatory indexes (erythrocyte sedimentation rate and (or) C-reactive protein), positive autoantibodies were noticed in 3 cases (6%). The patients were treated with glucocorticoid in 23 cases (47%), immunosuppressive agents in 43 cases (88%) and biologic agents in 37 cases (76%). During the follow-up of 5.8 (2.9, 8.9) years, 3 cases (6%) died. Conclusions: The symptoms of non-inflammasome related conditions include recurrent fever, rash, joint and ocular involvement with increased inflammatory indexes and negative autoantibodies. Up to now, glucocorticoids, immunosuppressants and biologic agents are the most popular medications for the non-inflammasome related conditions.


Asunto(s)
Artritis Infecciosa , Exantema , Sinovitis , Masculino , Niño , Femenino , Humanos , Estudios Retrospectivos , Glucocorticoides , Autoanticuerpos
3.
Zhonghua Er Ke Za Zhi ; 59(12): 1043-1047, 2021 Dec 02.
Artículo en Chino | MEDLINE | ID: mdl-34856663

RESUMEN

Objective: To summarize the clinical characteristics of type I interferonopathies and provide clues for early identification and diagnosis. Methods: Clinical data of 20 patients admitted to Department of Pediatrics, Peking Union Medical College Hospital and 5 patients admitted to Department of Rheumatology and Immunology, Shenzhen Children's Hospital from January 2016 to September 2021 were retrospectively analyzed. The data included gene results, clinical manifestations and auxiliary examination results. Results: Of the 25 cases, 12 were males and 13 were females. Age of onset ranged from 1 day to 11 years. And 84% of them had the onset before the age of 3 years. The cases consisted of 14 cases of Aicardi-Goutières syndrome (AGS), 6 cases of adenosine deaminase 2 deficiency (DADA2), 3 cases of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI), and 2 cases of Spondyloenchondrodysplasia with immune dysregulation (SPENCDI). Eighteen patients (72%) experienced neurologic disorder, among whom 16 (64%) showed intracranial calcification, 11 (44%) had dystonia, 10 (40%) had leukodystrophy, 6 (24%) had epilepsy, 5 (20%) had brain atrophy and 5 (20%) had early-onset cerebrovascular events. Skin involvement occurred in 15 cases (60%), among whom 8 cases (32%) had chilblain-like rash, 4 cases (16%) had livedo reticularis, 3 cases (12%) had erythema, 2 cases (8%) had erythema nodosum and 2 cases (8%) had Raynaud's phenomenon. In addition, 12 cases (48%) had positive autoimmune antibodies, 10 cases (40%) manifested as developmental retardation, 8 cases (32%) experienced lung interstitial lesions, and 7 cases (28%) demonstrated thyroid dysfunction. And 1 died (4%) at 11 years of age. Conclusions: Type Ⅰinterferonopathies can involve multiple organs, and share the characteristics of systemic inflammatory and autoimmune diseases. The early-onset neurological symptoms (early-onset cerebrovascular events, intracranial calcification, leukodystrophy and cerebral atrophy), rashes (chilblain-like rash, livedo reticularis and erythema), positive autoimmune antibodies, developmental delay, interstitial lung disease and thyroid dysfunction may indicate type Ⅰ interferonopathies.


Asunto(s)
Enfermedades Autoinmunes del Sistema Nervioso , Malformaciones del Sistema Nervioso , Adenosina Desaminasa/genética , Enfermedades Autoinmunes del Sistema Nervioso/genética , Niño , Preescolar , Femenino , Humanos , Lactante , Péptidos y Proteínas de Señalización Intercelular , Masculino , Estudios Retrospectivos
4.
Zhonghua Wai Ke Za Zhi ; 58(8): 626-630, 2020 Aug 01.
Artículo en Chino | MEDLINE | ID: mdl-32727195

RESUMEN

Objective: To examine the value serum calcium and intact parathyroid hormone (iPTH) levels measured on the first day after total thyroidectomy on prediction for permanent hypoparathyroidism. Methods: Totally 546 patients with thyroid cancer and benign thyroid lesions who underwent total thyroidectomy at Department of General Surgery, Beijing Chaoyang Hospital, Capital Medical University from February 2008 to December 2018 were analyzed retrospectively. There were 158 males and 388 females aging (50.9±13.2) years (range: 19.0 to 79.2 years). Serum calcium and iPTH levels were collected before surgery, on the first day and 6 months after surgery. Logistic regression was used to analyze the correlation between each data and the occurrence of permanent hypoparathyroidism after surgery.The area under the receiver operating characteristic curve was used to evaluate the predictive power of iPTH for postoperative occurrence of permanent hypoparathyroidism. Results: Among the 546 cases of total thyroidectomy, 22 cases of permanent hypoparathyroidism occurred, with an incidence of 4.0% (22/546). Multivariate analysis showed that iPTH levels on the first day after total thyroidectomy (OR=2.932, 95%CI: 1.129 to 7.616, P=0.027) and serum calcium levels (OR=2.584, 95%CI: 1.017 to 6.567, P=0.046) were independent prognosis factors for postoperative permanent hypoparathyroidism. When the threshold value of iPTH at 24 hours after total thyroidectomy was 5.51 ng/L, the AUC was 0.956 (95%CI: 0.936 to 0.972, P=0.000), sensitivity was 100%, specificity was 85.1%, positive predictive value was 22%, negative predictive value was 100%. When the threshold value of serum calcium at 24 hours after total thyroidectomy was 1.93 mmol/L, the AUC was 0.733 (95%CI: 0.694 to 0.770, P=0.000), sensitivity was 63.6%, specificity was 78.1%, positive predictive value of 10.8% and negative predictive value of 98.1%. Conclusions: Serum iPTH and calcium levels on the first day after total thyroidectomy were related to the occurrence of permanent hypoparathyroidism postoperatively. The predictive value of iPTH level is higher than that of serum calcium level.


Asunto(s)
Calcio/sangre , Hipoparatiroidismo/sangre , Hormona Paratiroidea/sangre , Enfermedades de la Tiroides/cirugía , Tiroidectomía/efectos adversos , Adulto , Anciano , Femenino , Humanos , Hipoparatiroidismo/etiología , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos , Enfermedades de la Tiroides/sangre , Tiroidectomía/métodos , Adulto Joven
5.
Neoplasma ; 67(2): 410-414, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31884802

RESUMEN

Keratin-15 (KRT15) is a type I keratin lacking a defined type II partner and plays a key role in maintaining cytoplasmic stability. Recently, studies have reported that KRT15 was correlated with tumor formation and progression. However, the clinical significance of KRT15 in colorectal cancer is unclear. In this study, we aimed to investigate the expression of KRT15 and its clinical significance in colorectal cancer. KRT15 expression was examined in 98 cases of colorectal cancer and matched adjacent normal tissues by quantificational real-time polymerase chain reaction (qRT-PCR) and immunohistochemistry (IHC), respectively. Then, the clinical significance of KRT15 expression was evaluated in colorectal cancer. QRT-PCR results revealed that the mRNA levels of KRT15 in colorectal cancer tissues were significantly higher compared with those in normal tissues (p<0.0001). The rates of KRT15 high-expression in colorectal cancer and normal tissues were 57.1% and 8.9%, respectively, and the difference was statistically significant (p<0.0001). KRT15 high-expression correlated with differentiation, T stage, lymph node metastasis and clinical stage in colorectal cancer (p<0.05). Meanwhile, KRT15 overexpression predicted poor prognosis and could be used as an independent prognostic factor. These data indicate KRT15 is highly expressed in colorectal cancer and may serve as a prognostic biomarker.


Asunto(s)
Neoplasias Colorrectales/diagnóstico , Queratina-15/genética , Biomarcadores de Tumor/genética , Neoplasias Colorrectales/genética , Regulación Neoplásica de la Expresión Génica , Humanos , Metástasis Linfática , Estadificación de Neoplasias , Pronóstico , Reacción en Cadena en Tiempo Real de la Polimerasa
6.
Zhonghua Er Ke Za Zhi ; 57(12): 922-927, 2019 Dec 02.
Artículo en Chino | MEDLINE | ID: mdl-31795558

RESUMEN

Objective: To summarize the clinical characteristics of patients with haploinsufficiency of A20 (HA20). Methods: The clinical manifestations, laboratory examinations, treatment, outcome and genetic analysis of 4 cases with HA20 hospitalized in Peking Union Medical College Hospital were analysed.Further literature review was done after searching articles in PubMed and Wangfang databases with the key words "HA20" "A20 haploinsufficiency" "TNFAIP3" up to the date of September 2019. Results: The 4 patients were a father and a daughter, as well as a mother and a daughter. Their phenotypes were quite variable, but all of them have been suffering from recurrent oral ulcer since childhood. Elevation of C-reactive protein (13-33 mg/L) and erythrocyte sedimentation rate (21-60 mm/1h) were found in these 4 patients, and there was positive antinuclear antibody in proband 1.The father in pedigree 1 and the 2 patients in pedigrees 2 have been diagnosed with Behçet disease and the proband 1 with undifferentiated connective tissue disease. The 2 patients in pedigree 1 have developed Hashimoto's thyroiditis. After gene sequencing analysis, it was found that all the 4 patients have heterozygous nonsense mutations in TNFAIP3 gene, that is, c.811C>T, p.R271X in pedigree 1 and c.133C>T, p.R45X in pedigree 2.The diagnosis of HA20 was eventually established when sequencing results and their clinical manifestations were both compatible with this disease.A total of 21 articles were retrieved, all in English, with a total of 91 cases from 39 families (including the 4 cases reported in this paper). HA20 was reported more often in female (57, 64.8%). Most patients develop symptoms from childhood, but as many as 53.4% (47 cases) are not correctly diagnosed until adulthood. Oral ulcers, genital ulcers, periodic fever, gastrointestinal symptoms, rashes, and arthritis are the primary manifestations.Hashimoto's thyroiditis is the most common autoimmune diseases that HA20 patients coexist with. Laboratory tests were characterized by significantly elevated inflammatory markers and low to moderate titers of autoantibodies in some patients.Most HA20 patients were reported to have nonsense mutations or shift mutations of TNFAIP3 gene, which leads to truncation of A20 protein, and only a small number of patients have missense mutation. In terms of treatment, anti-TNF treatment and anti-interleukin 1 is believed to be an effective and the most optimal therapy. The treatment effect is variable and requires long term observations. Conclusions: The clinical phenotypes of HA20 are complex. For patients with both autoinflammatory and autoimmune characteristics, family history should be inquired in detail and gene sequencing should be performed if necessary.


Asunto(s)
Enfermedades Autoinmunes/diagnóstico , Haploinsuficiencia , Pueblo Asiatico , Enfermedades Autoinmunes/genética , Niño , Femenino , Heterocigoto , Humanos , Masculino , Mutación , Linaje , Proteína 3 Inducida por el Factor de Necrosis Tumoral alfa/genética
7.
Zhonghua Er Ke Za Zhi ; 56(11): 835-845, 2018 Nov 02.
Artículo en Chino | MEDLINE | ID: mdl-30392208

RESUMEN

Objective: To establish comprehensive laboratory reference intervals for Chinese children. Methods: This was a cross-sectional multicenter study. From June 2013 to December 2014, eligible healthy children aged from 6-month to 17-year were enrolled from 20 medical centers with informed consent. They were assessed by physical examination, questionnaire survey and abdominal ultrasound for eligibility. Fasting blood samples were collected and delivered to central laboratory. Measurements of 15 clinical laboratory parameters were performed, including estradiol (E2), testosterone(T), luteinizing hormone(LH), follicle-stimulating hormone(FSH), alanine transaminase(ALT), serum creatinine(Scr), cystatin C, immunoglobulin A(IgA), immunoglobulin G(IgG), immunoglobulin M(IgM), complement (C3, C4), alkaline phosphatase(ALP), uric acid(UA) and creatine kinase(CK). Reference intervals were established according to central 95% confidence intervals for reference population, stratified by age and sex. Results: In total, 2 259 children were enrolled. Finally, 1 648 children were eligible for this study, including 830 boys and 818 girls, at a mean age of 7.4 years. Age- and sex- specific reference intervals have been established for the parameters. Reference intervals of sex hormones increased gradually with age. Concentrations of ALT, cystatin C, ALP and CK were higher in children under 2 years old. Serum levels of sex hormones, creatinine, immunoglobin, CK, ALP and urea increased rapidly in adolescence, with significant sex difference. In addition, reference intervals were variable depending on assay methods. Concentrations of ALT detected by reagents with pyridoxal 5'-phosphate(PLP) were higher than those detected by reagents without PLP. Compared with enzymatic method, Jaffe assay always got higher results of serum creatinine, especially in children younger than 9 years old. Conclusion: This study established age- and sex- specific reference intervals, for 15 clinical laboratory parameters based on defined healthy children.


Asunto(s)
Análisis Químico de la Sangre , Valores de Referencia , Adolescente , Niño , Preescolar , Estudios Transversales , Estradiol/sangre , Femenino , Hormona Folículo Estimulante/sangre , Humanos , Lactante , Hormona Luteinizante/sangre , Masculino
8.
Zhonghua Er Ke Za Zhi ; 56(8): 611-616, 2018 Aug 02.
Artículo en Chino | MEDLINE | ID: mdl-30078244

RESUMEN

Objective: To analyze the clinical characteristics of spondyloenchondrodysplasia with immune dysregulation (SPENCDI). Methods: The clinical manifestations, laboratory examinations, treatment and genetic analysis of a patient diagnosed with SPENCDI who was admitted to the Department of Pediatrics in Peking Union Medical College Hospital in October 2016 were analyzed. Then literature review was done after searching articles in PubMed and several Chinese databases with the key words "spondyloenchondrodysplasia with immune dysregulation" up to the date of November 2017. Results: A 12-year-old girl was admitted to local hospital for complaint of "recurrent fever over one month" in October 2016. She was diagnosed with type Ⅱ autoimmune hepatitis for abnormal liver function, elevated immunoglobulin G, positive anti-liver-kidney microsomal antibody and medium to severe interface hepatitis verified by liver biopsy. Systemic lupus erythematosus was also suspected based on positive antinuclear antibody and anti-dsDNA antibody, decreased complements, reduced white blood cells and hemoglobin. Methylprednisolone and azathioprine were started based on the diagnosis. However, she experienced mycoplasma pneumoniae and suspected fungal infections during the treatment. Detailed history revealed the history of developmental retardation since birth, and cerebral palsy diagnosed when she was 2 years old. She also underwent surgery at the age of eight for eversion of her right foot. Based on the abnormal findings of immune system, skeleton and nervous system, certain primary immunodeficiency disease was speculated. Gene sequencing was performed, which revealed compound heterozygous mutations in ACP5 gene (NM_001111035.2) (c.798dupC, p. S267Lfs*20, paternal; c.716G>A, p. G239D, maternal). With X-ray of the vertebrae showed multiple platyspondyly, the diagnosis was corrected as SPENCDI and type Ⅱ autoimmune hepatitis. Then she was treated with prednisone (60 mg/d) and mycophenolate mofetil (1.5 g/d). All symptoms resolved on 3-month follow-up, with normalized activity indexes of autoimmune hepatitis and systemic lupus erythematosus. A total of 25 articles (1 Chinese, 24 English) were reviewed, with 74 SPENCDI patients reported. The most common manifestations were skeletal abnormalities (74/74, 100%), autoimmune diseases (47/74, 63.5%), dwarfism (45/74, 60.8%), and nervous system symptoms (25/74, 33.8%). A few patients with simple spondyloenchondrodysplasia were treated with growth hormone, and those who with autoimmune diseases were treated with immunosuppressants, all of whom were improved to certain extent. Conclusions: Vertebral and metaphyseal dysplasia, nervous system symptoms, and strong predisposition to autoimmune diseases are the hallmarks of SPENCDI. SPENCDI should be considered in dwarf with or without autoimmune diseases or nervous system symptoms.


Asunto(s)
Enfermedades Autoinmunes , Síndromes de Inmunodeficiencia , Osteocondrodisplasias , Enfermedades Autoinmunes/complicaciones , Enfermedades Autoinmunes/inmunología , Niño , Femenino , Humanos , Síndromes de Inmunodeficiencia/complicaciones , Síndromes de Inmunodeficiencia/inmunología , Lupus Eritematoso Sistémico , Osteocondrodisplasias/complicaciones , Osteocondrodisplasias/inmunología
9.
Zhonghua Er Ke Za Zhi ; 55(5): 383-387, 2017 May 04.
Artículo en Chino | MEDLINE | ID: mdl-28482392

RESUMEN

Objective: To explore the key points of diagnosis and treatment of familial Mediterranean fever(FMF). Method: The clinical data of 3 cases with FMF misdiagnosed as Juvenile idiopathic arthritis(JIA)seen from January 2014 to June 2016 in Peking Union Medical College Hospital were retrospectively collected. The clinical manifestations, gene mutation characteristics, treatment and prognosis were also evaluated. Result: Two cases were male and 1 was female. The mean age of onset was 17 months (3 months to 36 months), while the average age of diagnosis was 6 years and 8 months (24 months to 11 years). All the 3 cases presented with periodic fever, red rash and arthritis.Two of them suffered from anemia, 2 of them showed lymphadenopathy, and 1 of them presented with hepatosplenomegaly. All of the 3 cases were diagnosed as JIA by excluding infectious diseases and neoplastic diseases and respondiug poorly to anti-infection treatment, but they benefitted little from glucocorticoids and a variety of immunosuppressive therapy. The mutations of MEFV gene were found in 3 cases by gene detection, and all of them were complex heterozygous mutations. Four reported pathogenic mutations were found: R202Q, E148Q, L110P, P369S. All the 3 cases are currently receiving oral colchicine (in accordance with the initial dose of children under the age of 5 recommended ≤ 0.5 mg/d, 5 to 10 years old children 0.5-1.0 mg/d, 10 years old children and older children 1.0-1.5 mg / d) , and the symptoms were significantly improved. Conclusion: The familial Mediterranean fever can be characterized by repeated remittent fever, red rash, arthritis, and is easy to be confused with JIA in clinical manifestation.In this paper, 3 cases were diagnosed as complex heterozygous MEFV gene mutation by gene analysis.During the 6 months follow-up, all of the 3 patients responded well to colchicine.


Asunto(s)
Artritis Juvenil/diagnóstico , Fiebre Mediterránea Familiar/diagnóstico , Niño , Preescolar , Proteínas del Citoesqueleto , Errores Diagnósticos , Fiebre Mediterránea Familiar/genética , Femenino , Fiebre , Heterocigoto , Humanos , Lactante , Masculino , Mutación , Pronóstico , Estudios Retrospectivos
10.
Zhonghua Er Ke Za Zhi ; 55(1): 19-24, 2017 Jan 02.
Artículo en Chino | MEDLINE | ID: mdl-28072954

RESUMEN

Objective: To explore the clinical and immunological features, gene mutations, treatment and prognosis in patients with activated phosphoinositide 3-kinase δ syndrome (APDS) caused by PIK3CD gene heterozygous germline mutation. Method: The data of clinical, immunological phenotype, treatment, and prognosis of 15 patients with APDS, who visited Children's Hospital of Chongqing Medical University, Peking Union Medical College Hospital, and Shenzhen Children's Hospital from June 2014 to November 2016, were collected and analyzed. Result: Of the 15 patients, 11 were males, remaining 4 patients were females. The median age of disease onset was 1 year, and median age at diagnosis was 4 years and 4 months. All patients had the de novo heterozygous germline mutation in PIK3CD (c. 3061G>A, p. E1021K). The common initial symptoms were respiratory infections, including pneumonia (12 cases) , bronchiectasis (5 cases). Other common clinical manifestations were recurrent and chronic diarrhea (11 cases), Epstein-Barr virus (EBV) and/or cytomegalovirus (CMV) viremia (10 cases), hepatosplenomegaly (13 cases), and lymphadenopathy (10 cases). The main immunological features were increased IgM (11 cases), decreased IgG (6 cases), decreased numbers of CD4+ T cell (7 cases) especially naïve CD4+ T cell (9 cases), reduced numbers of B cells (11 cases) particularly naïve B cells (9 cases), increased numbers of transitional B cells (5 cases) and CD8+ terminally differentiated effector memory T cells (5 cases). After 1-29 months follow up, 13 of the 15 cases remain survived, of whom 5 cases received regular intravenous immunoglobulin (IVIG) therapy, with reduced frequency of infections and improved severity of infections; of whom 3 cases received oral rapamycin therapy at the dosage of 1 mg/ (m2·d) and with a decrease in nonneoplastic lymphoproliferation. Conclusion: E1021K is a hotspot for mutation in the PIK3CD gene in patients with APDS. Regular IVIG can improve their quality of life. Targetel treatment with rapamycin could mitigate hepatosplenomegaly.


Asunto(s)
Fosfatidilinositol 3-Quinasa Clase I/genética , Fosfatidilinositol 3-Quinasas , Linfocitos T CD4-Positivos , Niño , Preescolar , Infecciones por Citomegalovirus , Infecciones por Virus de Epstein-Barr , Femenino , Herpesvirus Humano 4 , Heterocigoto , Humanos , Inmunoglobulinas Intravenosas , Lactante , Masculino , Mutación , Fenotipo , Pronóstico , Calidad de Vida , Síndrome
11.
J Nutr Health Aging ; 20(9): 937-943, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27791224

RESUMEN

BACKGROUND: Previous studies have demonstrated that the levels of B-type natriuretic peptide (BNP) in plasma are negatively correlated with Body Mass Index (BMI) whereas lean body mass is also closely related to plasma BNP. The purpose of this study is to determine the effect of protein nutritional status on plasma BNP in aged patients. METHODS AND RESULTS: The cross-sectional study was applied and the anthropometric measurement and nutritional biochemical test was performed in 1118 elderly inpatients in a stable condition were enrolled in the study (mean age, 75 years; 54% women). The partial correlation and multivariate regression analysis were conducted to analyze the relation of plasma BNP with covariates. After adjustment for confounding factors such as age, smoking and coexisting diseases, we found that the concentrations of BNP were independently associated with serum albumin (ß=-0.065, P<0.001), serum total cholesterol (ß=-0.097, P<0.012) and calf circumference (ß=-0.032, P<0.014) in female patients, and associated with the serum albumin (ß=-0.051, P<0.001), prealbumin (ß=-2.177, P<0.026), mid-arm circumference (ß=-0.062, P<0.001) and grip strength (ß=-0.100, P<0.048) in male patients. Every 1 gram per liter of increased serum albumin corresponded to the reduced plasma BNP in male patients by 13.9% (OR 0.861, 95% CI 0.817, 0.909) and in female patients by 13.4% (OR 0.866, 95% CI 0.819, 0.916). CONCLUSIONS: Our study suggests that plasma BNP is negatively correlated with muscle mass, and it is also related to muscle force in male patients. The serum albumin is an independent determinant factor of BNP in both men and women. These findings suggest that good protein nutritional status could be beneficial in maintaining the cardiac function in elder population.


Asunto(s)
Péptido Natriurético Encefálico/sangre , Estado Nutricional , Anciano , Anciano de 80 o más Años , Antropometría , Composición Corporal , Índice de Masa Corporal , Colesterol/sangre , Estudios Transversales , Femenino , Fuerza de la Mano , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Albúmina Sérica/análisis
12.
Artículo en Chino | MEDLINE | ID: mdl-29797938

RESUMEN

Objective:To investigate the comprehensive curativeeffect of refractory rhinosinusitis by endoscopic sinus surgery and middle turbinate resection.Method:A retrospective analysis with 178 cases of refractory rhinosinusitis.According to the operation methods, these patients were divided into two groups, observation group and control group, with 89 patients each. The observationgroup received revision endoscopic sinus surgery combined with middle turbinectomy and the control with traditional surgery. Followup to observe the curative effect and recurrence rate between the two groups. Result:Follow-up after 6 months, total effective rate of observation group was 88.76% and the effective rate of control group was 68.54%.The total effective rate of observation group is higher than the control group, and non efficiency rate is lower than that of the control group; besides that the incidence of complications and the recurrence rate of the observation group was lower than the control group. Conclusion:It can effectively prevent the recurrence of sinusitis by the revised operation of nasal endoscopic frontal sinus combined with middle turbinate partial or complete removal and fully treatment measures of peri operation period, that is to say it can improve the therapeutic effect of refractory sinusitis witch worthing the clinical popularization and application.

14.
Eur Rev Med Pharmacol Sci ; 19(21): 4068-75, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26592828

RESUMEN

OBJECTIVE: To investigate the possible pathway involved in hydrogen peroxide (H2O2) induced apoptosis in U251 glioma cells. MATERIALS AND METHODS: The cultured U251 glioma cells were used in this study. The cells were divided into three groups: control group (untreated glioma cells), H2O2 group (treated with 100, 300 and 500 µM H2O2) and CI group (treated with 300 µM H2O2 and 15 µM caspase inhibitor, CI). The cellular viability was determined by MTT [3-(4,5)-dimethylthiahiazo(-z-y1)-3,5-di-phenytetrazoliumromide] assay. A flow cytometer was used for measuring the cell cycles. The mode of cell death was assessed by Annexin-V/PI-flow cytometry analysis. Fluorescence dihydroethidium (DHE) method was conducted to detect the oxygen species (O2-). Western blot analysis was performed to confirm the pro-caspase-3, caspase-3 and PARP (poly-ADP-ribose polymerase) protein expression. RESULTS: The oxidative stress to U251 glioma cells exhibited in a dose-dependent manner with H2O2 concentrations increasing. The cell viability was considerably decreased and apoptosis occurred in H2O2 treated cells. A G1 cell cycle arrest and O2- level increase were found in H2O2 group. Western blot analysis showed a decrease of pro-caspase-3 protein level and an increase of caspase-3 and PARP level in 300 µM H2O2 treated cells. The H2O2 induced apoptosis depicted above was significantly restrained by CI. CONCLUSIONS: Oxidative stress inhibits growth and induces apoptotic cell death in human U251 glioma cells via the caspase-3-dependent pathway. Mitochondrial pathway might involve in this signaling conduction. These findings are favorable for understanding the mechanisms of oxidative stress-induced apoptosis in U251 glioma cells.


Asunto(s)
Apoptosis , Caspasa 3/metabolismo , Glioma/metabolismo , Glioma/patología , Estrés Oxidativo/fisiología , Apoptosis/efectos de los fármacos , Ciclo Celular/efectos de los fármacos , Línea Celular Tumoral , Supervivencia Celular/efectos de los fármacos , Humanos , Peróxido de Hidrógeno/metabolismo , Peróxido de Hidrógeno/farmacología , Mitocondrias/efectos de los fármacos , Mitocondrias/metabolismo , Estrés Oxidativo/efectos de los fármacos , Poli(ADP-Ribosa) Polimerasas/metabolismo , Transducción de Señal/efectos de los fármacos
15.
Int J Oral Maxillofac Surg ; 37(12): 1148-52, 2008 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19019629

RESUMEN

Most metallic foreign bodies are inert, but they can cause chronic inflammatory reactions and be a source of infection. Identification and removal of foreign bodies from wounds is often necessary. The present report describes two cases of a foreign body embedded in the external nose. Each case was successfully treated by an open rhinoplasty approach. This approach is an effective and safe method for removal of foreign bodies in the external nose. It provides a good surgical field and a better cosmetic outcome than a conventional incision.


Asunto(s)
Cuerpos Extraños/cirugía , Metales/efectos adversos , Nariz , Rinoplastia/métodos , Accidentes de Trabajo , Adulto , Cicatriz/cirugía , Humanos , Masculino , Cartílagos Nasales/cirugía , Nariz/lesiones , Resultado del Tratamiento , Soldadura
16.
Int J Oral Maxillofac Surg ; 37(6): 573-5, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18486453

RESUMEN

Repair of an isolated anterior table frontal sinus fracture traditionally requires a coronal incision, which results in a large scar, alopecia and paresthesias, because of these problems, endoscopic approaches have been attempted. These approaches still involve small incisions at the forehead or behind the hairline so might be better described as endoscopy-assisted surgery. This report describes the reduction of an isolated anterior table frontal sinus fracture in a 14-year-old boy using an endoscopic procedure that involves a transnasal approach with no external incisions. Endoscopic instruments were used under 25 and 70 degrees endoscope guidance. A custom-made latex glove balloon was inserted into the frontal sinus, and then expanded and maintained for 20 days to support the reduced bony fragments. Postoperatively, the reduction was successful. The cosmetic deformity was repaired and there was no postoperative morbidity. This case indicates that endoscopic reduction may be a valuable treatment option for certain types of frontal sinus fractures.


Asunto(s)
Endoscopía/métodos , Seno Frontal/lesiones , Fracturas Craneales/cirugía , Adolescente , Cateterismo/instrumentación , Estudios de Seguimiento , Frente/lesiones , Seno Frontal/cirugía , Humanos , Masculino , Nariz , Goma , Fútbol/lesiones
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