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1.
J Clin Immunol ; 2020 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-31939038

RESUMO

ROSAH syndrome was recently identified as an autosomal dominant systemic disorder due to mutations in ALPK1. It was characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. We collected and summarized the clinical data of two patients with juvenile onset splenomegaly and oculopathy. Whole exome sequencing (WES) was adapted for genetic analysis. Mutations in ALPK1 were confirmed by Sanger sequencing. Besides juvenile oculopathy and splenomegaly, both patients had intermittent fever and anhidrosis. Patient 2 also experienced recurrent upper respiratory infections in her infancy and developed dental and nail problems in childhood. Elevated TNF-α was their prominent laboratory features. Both patients were found to have a previously reported mutation, c.710C>T, p. T237M (NM_001102406) in ALPK1. Anti-TNF treatment of adalimumab was applied to patient 1, after which her optic disc edema in the left eye continued and the visual acuity deteriorated further. Patient 1 underwent elective splenectomy due to concern for spontaneous rupture of the spleen. Up to date, 18 patients of ROSAH syndrome have been reported. The clinical manifestations were relatively homogeneous, prominently presenting with juvenile onset oculopathy and splenomegaly. As it mainly involves ocular fundus, severe oculopathy deeply affects the quality of life and prognosis of ROSAH patients. Now little has been known about its treatment. As a newly recognized inherited systemic disorder, ROSAH syndrome needs to be paid more attention to, especially for those with juvenile onset splenomegaly and oculopathy.

2.
Nutr Clin Pract ; 2019 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-31268194

RESUMO

BACKGROUND: Human milk (HM) is the first choice for preterm infants, but exclusive HM feeding is inadequate for the growth of very preterm infants. The hypothesis of this trial is that infants fed according to an individualized fortification regimen will have higher protein intake and improved weight gain velocity (WGV). METHODS: A prospective, randomized, controlled study was conducted. Infants <34 weeks of gestational age were enrolled when enteral feeding volume reached 60 mL/kg/d and were randomly allocated to the individualized fortification (IF) group or the standard fortification group. The IF group was fed using a regimen that featured modifying HM fortifier and supplemental protein powder based on the protein concentration in HM, current body weight of infants, and blood urea nitrogen (fortification level was set as L-1, L0, L1, L2, L3; the amount of HM fortifier and protein powder were determined accordingly). RESULTS: Between September 2012 and August 2016, 51 preterm infants completed the study. In the IF group, 62.5% (15/24) of preterm infants were fed with HM fortified to level 1, 29.2% (7/24) to level 2, and 12.5% (3/24) to level 3. The WGV of the third week in the IF group was greater than the standard group (20.8 ± 7.9 vs 14.9 ± 4.5 g/kg/d, P = 0.022). CONCLUSION: About two-thirds of preterm infants needed to adjust the HM fortification to a higher level. The WGV of infants in the IF group was better than that of the standard group in the third week of this study.

3.
Int J Cancer ; 144(8): 2043-2050, 2019 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-30307029

RESUMO

The clinical trials of CAR T-cell therapy are growing fast in recent years, and most of the trials are initiated by sponsors from the United States and China. Exhibiting the distinctions between the clinical trials in the two countries is of great value for understanding the panorama of CAR T-cell clinical trials and forecasting the future of this promising therapy. We analyzed the critical elements of 289 clinical trials posted on the clinicaltrials.gov website by sponsors from the two countries and evaluated the efficacy data in available 50 published CAR T-cell studies. Our analysis shows that China has become the country with the largest number of CAR-T cell clinical trials by the end of 2017, while overall subject sample size and study center numbers are still larger, and the design of the clinical trials is more cautious in the United States. There are obvious differences between the two countries in CAR-targeted antigens in solid tumors and genetic modifications besides CARs for enhancing the potency of CAR T-cells. Although the currently available response rates are promising in both countries, it is inexpedient to conclude that the clinical efficacy is comparable between the two countries considering the smaller patient sample sizes and discrete distribution of median cell doses in China. And finally, the flexible regulatory regime of cell therapy in China, which expedites the bursting of CAR T-cell therapy, is also firstly introduced in our study.


Assuntos
Comparação Transcultural , Imunoterapia Adotiva/métodos , Neoplasias/terapia , Receptores de Antígenos Quiméricos/imunologia , China , Ensaios Clínicos como Assunto , Humanos , Imunoterapia Adotiva/legislação & jurisprudência , Imunoterapia Adotiva/estatística & dados numéricos , Estudos Multicêntricos como Assunto , Neoplasias/imunologia , Projetos de Pesquisa , Tamanho da Amostra , Resultado do Tratamento , Estados Unidos
4.
Medicine (Baltimore) ; 96(42): e7989, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29049190

RESUMO

RATIONALE: With the progress of sequencing technology, an increasing number of atypical primary immunodeficiency (PID) patients have been discovered, including Janus kinase 3 (JAK3) gene deficiency. PATIENT CONCERNS: We report a patient who presented with chronic active Epstein-Barr virus (CAEBV) infection but responded poorly to treatment with ganciclovir. DIAGNOSES: Next-generation sequencing (NGS) was performed, including all known PID genes, after which Sanger sequencing was performed to verify the results. Genetic analysis revealed that our patient had 2 novel compound heterozygous mutations of JAK3, a gene previously reported to cause a rare form of autosomal recessive severe combined immunodeficiency with recurrent infections. The p.H27Q mutation came from his father, while p. R222H from his mother. Thus, his diagnosis was corrected for JAK3-deficiency PID and CAEBV. INTERVENTIONS: Maintenance treatment of subcutaneous injection of recombinant human interferon α-2a was given to our patient with 2 MU, 3 times a week. OUTCOMES: Interferon alpha was applied and the EBV infection was gradually controlled and his symptoms ameliorated remarkably. Our patient is in good health now and did not have relapses. LESSONS: The diagnoses of PID should be taken into consideration when CAEBV patients respond poorly to conventional treatments. Good results of our patient indicate that interferon α-2a may be an alternative treatment for those who are unwilling to accept hematopoietic stem cell transplantation (HSCT) like our patient. Literature review identified 59 additional cases of JAK3 deficiency with various infections.


Assuntos
Infecções por Vírus Epstein-Barr/genética , Herpesvirus Humano 4 , Síndromes de Imunodeficiência/genética , Janus Quinase 3/deficiência , Antivirais/uso terapêutico , Criança , Doença Crônica , Infecções por Vírus Epstein-Barr/tratamento farmacológico , Infecções por Vírus Epstein-Barr/virologia , Ganciclovir/uso terapêutico , Herpesvirus Humano 4/efeitos dos fármacos , Humanos , Síndromes de Imunodeficiência/tratamento farmacológico , Síndromes de Imunodeficiência/virologia , Interferon alfa-2 , Interferon-alfa/administração & dosagem , Masculino , Proteínas Recombinantes/administração & dosagem , Resultado do Tratamento
5.
Chin Med Sci J ; 28(3): 140-6, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24074615

RESUMO

OBJECTIVES: To evaluate the expression profile of myoD microRNA-29 (miR-29) family in L6 myoblast differentiated to myotube of L6 myotube treated by glucose and insulin, and to further probe the molecular mechanism of myoD regulating the expression of miR-29 clusters. METHODS: The expression of myoD and miR-29 family was detected by using real-time PCR and Western blot analysis. The potential promoter and transcription factors binding sites of miR-29 clusters were predicted by Promoter scan and transcriptional factor search. The promoter sequence of miR-29b1-a and miR-29b2-c cluster was cloned into a luciferase reporter plasmid and the regulatory effect of myoD was analyzed by using dual luciferase reporter assay. Electrophoretic mobility shift assay was further conducted to indicate the binding of myoD on specific sequence. Moreover, overexpression of myoD was achieved by a recombinant adenovirus system (Ad-myoD). L6 cells were infected with Ad-myoD and real-time PCR was conducted to analyze the expression of miR-29b and miR-29c. RESULTS: The expression levels of myoD, miR-29a, miR-29b, and miR-29c were increased in L6 myoblast differentiated to myotube. The expression of myoD, miR-29b, and miR-29c was up-regulated in L6 myotube treated with glucose and insulin, but miR-29a depicted no significant change. Dual luciferase reporter gene assay showed that myoD functioned as a positive regulator of miR-29b2-c expression and myoD could bind to the specific sequence located at the promoter region of miR-29b2-c cluster. Enforced expression of myoD led to a marked increase of miR-29b and miR-29c levels in L6 cells. CONCLUSION: MyoD might act as a crucial regulator of myogenesis and glucose metabolism in muscle through regulating the expression of miR-29b2-c.


Assuntos
Diferenciação Celular/fisiologia , Regulação da Expressão Gênica/fisiologia , MicroRNAs/biossíntese , Família Multigênica/fisiologia , Fibras Musculares Esqueléticas/metabolismo , Proteína MyoD/metabolismo , Mioblastos/metabolismo , Animais , Diferenciação Celular/efeitos dos fármacos , Linhagem Celular , Regulação da Expressão Gênica/efeitos dos fármacos , Glucose/farmacologia , Hipoglicemiantes/farmacologia , Insulina/farmacologia , Camundongos , MicroRNAs/genética , Fibras Musculares Esqueléticas/citologia , Proteína MyoD/genética , Mioblastos/citologia , Edulcorantes/farmacologia
6.
Zhonghua Yi Xue Za Zhi ; 92(3): 206-8, 2012 Jan 17.
Artigo em Chinês | MEDLINE | ID: mdl-22490747

RESUMO

OBJECTIVE: To explore the clinical manifestations of muscular tuberculosis (MT) and analyze its risk factors. METHODS: Twenty MT patients were recruited from our department during 2000 - 2010. There were 9 males and 11 females with an average age of 43.5 years old. And their clinical manifestations were recorded and analyzed. RESULTS: All patients had local masses. And 19 patients had the involvement of single muscle and multiple muscles were involved in 1 patient. Gastrocnemius was affected in 9 patients. Nine patients had a previous history of tuberculosis or suffered concurrent tuberculosis of other body parts. Three patients with immune system disease received glucocorticoid therapy. And 11 patients underwent PPD (purified protein derivative) test and only 1 was strongly positive while 10 others were negative. MT was confirmed by pathological examinations in 20 cases. All patients underwent muscle biopsy and received effective chemotherapy. CONCLUSION: As a kind of systemic disease, MT is mainly characterized by painful or painless muscle mass. The patients with a history of tuberculosis, tuberculosis of other body parts and immune system disease are susceptible to MT. Diagnosis is mainly made through biopsy. And chemotherapy is effective.


Assuntos
Doenças Musculares , Tuberculose , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Musculares/microbiologia , Fatores de Risco , Adulto Jovem
7.
Zhonghua Nei Ke Za Zhi ; 48(11): 908-11, 2009 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-20079319

RESUMO

OBJECTIVE: The study aims to assess the therapeutic benefit of medicine treatment in chronic periaortitis. METHOD: A retrospective study of 52 patients with chronic periaortitis treated at Peking Union Medical College Hospital. Summarize clinical features, level of acute-phase reactants, extent of ureteral obstruction, level of renal function, size of mass with repeated follow-up CT scanning during the period of therapy. RESULTS: The most prominent symtom was back or abdominal pain. 76.92% had ureteral obstruction, with 26.92% had a progressive renal failure. After a period of treatment, 95.35% were significant to complete resolution of symptoms. There was also a remarkable decrease in ESR and C-reactive protein a median treatment of 4 weeks. Creatinine decreased significantly (P = 0.002) in patients with progressive renal failure. 66.67% was successfully removed the ureteric stents. CT scanning showed 75% mass regression after a median of 6 months. CONCLUSIONS: The clinical manifestations of chronic periaortitis is nonspecific, which often leads to a delayed diagnosis and the late complications. Chronic periaortitis is very effectively treated by a combination of steroids and immunosuppressive therapy and(or) tamoxifen, with excellent long-term outcome and relatively fewer disease relapse.


Assuntos
Fibrose Retroperitoneal , Tamoxifeno , Proteína C-Reativa , Humanos , Imunossupressão , Estudos Retrospectivos , Resultado do Tratamento
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