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2.
Sci Rep ; 9(1): 9654, 2019 08 20.
Artigo em Inglês | MEDLINE | ID: mdl-31427585

RESUMO

This study aims to analyze the length polymorphisms in sequence-tagged-site (STS) sY1291 of the Y chromosome in Vietnamese men of infertile couples. All 322 DNA samples were amplified with the sY1291 primer by the quantitative fluorescent polymerase chain reaction (QF-PCR) assay. DNA sequencing technique was employed to evaluate the accuracy of QF-PCR results. The study showed 273 out of 322 DNA samples had the presence of STS sY1291, accounted for 84.78%. The QF-PCR results showed that there were various lengths in STS sY1291: 507 bp, 512 bp, 523 bp and 527 bp. The most prevalent length in STS sY1291 was 507 bp (87.5%), the others were 512 bp (4.8%), 523 bp (4.8%) and 527 bp (2.9%). We found that the observed length polymorphisms derived from differences in the number of mononucleotide Thymine (T) repeats in its structure. It stretched from 22 T to 39 T. DNA sequencing results identified that the number of mononucleotide T repeats causes these polymorphisms. However, the pair-wise alignment between the obtained and reference sequence was 77%. It can be seen that the length polymorphisms in STS sY1291 observed in QF-PCR results was accurate but it is still difficult to sequence fragments with mononucleotide repeats.


Assuntos
Azoospermia/epidemiologia , Azoospermia/genética , Cromossomos Humanos Y/genética , Oligospermia/epidemiologia , Oligospermia/genética , Polimorfismo Genético , Sitios de Sequências Rotuladas , Adolescente , Adulto , Sequência de Bases , Humanos , Masculino , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase/métodos , Aberrações dos Cromossomos Sexuais , Timina , Vietnã/epidemiologia , Adulto Jovem
3.
J Bone Miner Res ; 33(11): 2071-2080, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29933504

RESUMO

Pediatric granulomatous arthritis (PGA) refers to two formerly separate entities: autosomal dominant Blau syndrome (BS) and its sporadic phenocopy early-onset sarcoidosis (EOS). In 2001 BS and in 2005 EOS became explained by heterozygous mutations within the gene that encodes nucleotide-binding oligomerization domain-containing protein 2 (NOD2), also called caspase recruitment domain-containing protein 15 (CARD15). NOD2 is a microbe sensor in leukocyte cytosol that activates and regulates inflammation. PGA is characterized by a triad of autoinflammatory problems (dermatitis, uveitis, and arthritis) in early childhood, which suggests the causal NOD2/CARD15 mutations are activating defects. Additional complications of PGA were recognized especially when NOD2 mutation analysis became generally available. However, in PGA, hypercalcemia is only briefly mentioned, and generalized osteosclerosis is not reported, although NOD2 regulates NF-κB signaling essential for osteoclastogenesis and osteoclast function. Herein, we report a 4-year-old girl with PGA uniquely complicated by severe 1,25(OH)2 D-mediated hypercalcemia, nephrocalcinosis, and compromised renal function together with radiological and histopathological features of osteopetrosis (OPT). The classic triad of PGA complications was absent, although joint pain and an antalgic gait accompanied wrist, knee, and ankle swelling and soft non-tender masses over her hands, knees, and feet. MRI revealed tenosynovitis in her hands and suprapatellar effusions. Synovial biopsy demonstrated reactive synovitis without granulomas. Spontaneous resolution of metaphyseal osteosclerosis occurred while biochemical markers indicated active bone turnover. Anti-inflammatory medications suppressed circulating 1,25(OH)2 D, corrected the hypercalcemia, and improved her renal function, joint pain and swelling, and gait. Mutation analysis excluded idiopathic infantile hypercalcemia, type 1, and known forms of OPT, and identified a heterozygous germline missense mutation in NOD2 common in PGA (c.1001G>A, p.Arg334Gln). Thus, radiological and histological findings of OPT and severe hypercalcemia from apparent extrarenal production of 1,25(OH)2 D can complicate NOD2-associated PGA. Although the skeletal findings seem inconsequential, treatment of the hypercalcemia is crucial to protect the kidneys. © 2018 American Society for Bone and Mineral Research.


Assuntos
Artrite/genética , Granuloma/complicações , Granuloma/genética , Hipercalcemia/complicações , Mutação/genética , Proteína Adaptadora de Sinalização NOD2/genética , Osteosclerose/complicações , Vitamina D/análogos & derivados , Sequência de Aminoácidos , Artrite/complicações , Artrite/diagnóstico por imagem , Sequência de Bases , Medula Óssea/diagnóstico por imagem , Medula Óssea/patologia , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/patologia , Pré-Escolar , Análise Mutacional de DNA , Feminino , Granuloma/diagnóstico por imagem , Humanos , Hipercalcemia/diagnóstico por imagem , Proteína Adaptadora de Sinalização NOD2/química , Osteosclerose/diagnóstico por imagem , Membrana Sinovial/patologia , Vitamina D/efeitos adversos
4.
BMC Biotechnol ; 15: 71, 2015 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-26265529

RESUMO

BACKGROUND: To extend the potency of vaccines against infectious diseases, vaccines should be able to exploit multiple arms of the immune system. One component of the immune system that is under-used in vaccine design is the subset of B cells known to be capable of responding to repetitive antigenic epitopes and differentiate into plasma cells even in the absence of T cell help (T-independent, TI). RESULTS: To target vaccine responses from T-independent B cells, we reengineered a bacterial Flagellin (FliC) by replacing its exposed D3 domain with a viral envelope protein from Dengue virus (DENV2). The resulting hybrid FliC protein (hFliC) was able to form stable filaments decorated with conformationally intact DENV2 envelope domains. These filaments were not only capable of inducing a T cell-dependent (TD) humoral antibody response, but also significant IgM and IgG3 antibody response in a helper T cell repertoire-restricted transgenic mouse model. CONCLUSIONS: Our results provide proof-of-principle demonstration that a reengineered hybrid FliC could be used as a platform for polymeric subunit vaccines, enhancing T cell-dependent and possibly inducing T-independent antibody responses from B-1 B cells as well.


Assuntos
Epitopos/imunologia , Flagelina/imunologia , Vacinas/imunologia , Proteínas do Envelope Viral/imunologia , Animais , Linfócitos B/imunologia , Epitopos/química , Flagelina/química , Imunoglobulina G/imunologia , Imunoglobulina M/imunologia , Camundongos , Engenharia de Proteínas , Salmonella enterica/química , Salmonella enterica/imunologia , Linfócitos T/imunologia , Vacinas/química , Proteínas do Envelope Viral/química
5.
Am J Trop Med Hyg ; 92(6): 1141-1149, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25918201

RESUMO

Knowledge of adult dengue virus (DENV) infection from Hanoi, Vietnam, is limited. In 2008, we prospectively studied 143 (77 male) confirmed (nonstructural 1 antigen enzyme-linked immunosorbent assay [ELISA], DENV polymerase chain reaction, paired serology) adult dengue patients of median age 23.5 (range 16-72) years. They were admitted to the National Hospital for Tropical Diseases, Hanoi, on median illness day (D) 5 (range 1-8). By D8, 141 (98.6%) were afebrile. Platelet counts and hematocrit (median, interquartile range [IQR]) nadired and peaked on D5 and D4, respectively: 40,000/µL (10,000-109,000/µL), 43.4% (34.9-49.7%). Four (2.8%) patients had severe dengue: 1) D10 shock (N = 1) and 2) aspartate aminotransferase (AST) ≥ 1,000 IU/L (N = 3, D5 and D7). Of 143 patients, 118 (82.5%) had ≥ 1 warning sign (World Health Organization [WHO] 2009 criteria): mucosal bleeding 66/143 (46.1%), soft tissue edema 54/143 (37.7%), and ultrasound detected plasma leakage (pleural effusions/ascites) 30/129 (23.25%). 138 (96.5%) patients received intravenous (IV) fluids: 3 L (IQR: 0.5-8.5 L). Most patients had non-severe dengue with warning signs. High rates of edema and plasma leakage may be explained partly by liberal use of IV fluids. Studies are needed on optimizing fluid management in non-severe adult dengue.


Assuntos
Dengue/epidemiologia , Adolescente , Adulto , Idoso , Dengue/diagnóstico , Dengue/patologia , Vírus da Dengue , Ensaio de Imunoadsorção Enzimática , Feminino , Hospitalização/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Estudos Prospectivos , Vietnã/epidemiologia , Adulto Jovem
6.
Invest Ophthalmol Vis Sci ; 54(7): 5136-43, 2013 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-23800763

RESUMO

PURPOSE: The zebrafish lens is well suited for studies of physiology and development due to its rapid formation in the embryo and genetic accessibility. Aquaporin 0 (AQP0), a lens-specific membrane protein, is required for lens clarity. Zebrafish have two copies of AQP0 (Aqp0a and b), whereas mammals have a single, multifunctional protein. Here we demonstrate a reliable knockdown/rescue system in zebrafish and use it to provide evidence for subfunctionalization of Aqp0a and b, as well as to show that calcium-mediated regulation of Aqp0a in zebrafish lenses is necessary for transparency. METHODS: Coinjection of antisense oligonucleotides and DNA rescue constructs into zebrafish embryos, followed by evaluation of the developing fish for cataracts, was used to analyze the functions of Aqp0a and b. The water permeability and regulation characteristics of each rescue protein were tested in a Xenopus oocyte swelling assay. RESULTS: Both copies of AQP0 are necessary for lens clarity in the zebrafish, and neither is sufficient. Water permeability is necessary but also insufficient. Phosphorylation and regulation of Aqp0a are required for its function. CONCLUSIONS: In the zebrafish lens, the two closely related AQP0s have acquired distinct functions that are both necessary for lens development and clarity. Regulation of AQP0 water permeability, a well-studied phenomenon in vitro, may be physiologically relevant in the living lens.


Assuntos
Aquaporinas/fisiologia , Catarata/fisiopatologia , Proteínas do Olho/fisiologia , Cristalino/fisiologia , Permeabilidade , Peixe-Zebra/fisiologia , Animais , Transporte Biológico/fisiologia , Catarata/metabolismo , Modelos Animais de Doenças , Cristalino/metabolismo , Água/metabolismo
7.
Clin Infect Dis ; 49(7): e79-83, 2009 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-19712034

RESUMO

Trichinellosis outbreaks occur occasionally in Vietnam following the consumption of undercooked pork. Diagnosing trichinella can be problematic because fever and myalgia are nonspecific, and diagnosis may be delayed. We describe 5 Vietnamese patients in whom trichinellosis was diagnosed after several weeks of illness.


Assuntos
Doenças Transmitidas por Alimentos/parasitologia , Trichinella/isolamento & purificação , Triquinelose/diagnóstico , Adolescente , Adulto , Animais , Febre/etiologia , Humanos , Masculino , Músculo Estriado/patologia , Dor , Triquinelose/patologia , Triquinelose/fisiopatologia , Vietnã , Adulto Jovem
8.
J Pediatr Endocrinol Metab ; 20(8): 883-91, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17937061

RESUMO

This retrospective study examined the pubertal characteristics and growth in patients with 21-hydroxylase deficiency (21-OHD). There were 18 males and 31 females with salt wasting (SW), simple virilizing (SV), or non-classical (NC) 21-OHD. Mean ages at onset of puberty (AOP) in SW, SV, and NC males were 9.2 +/- 1.9, 10.3 +/- 1.1, and 10.7 +/- 0.8 years, respectively; while mean AOP in SW, SV, and NC females were 9.3 +/- 1.7, 8.6 +/- 1.6, and 8.5 +/- 1.3 years, respectively. Mean final height (FH) in SW males (159.6 +/- 7.8 cm) was less than in SV (166.8 +/- 7.5 cm, p = 0.06) and NC (173.4 +/- 6.4 cm, p = 0.005) males. Mean FH in SW females (157.1 +/- 5.5 cm) was similar to SV (156.0 +/- 8.4 cm) but less than NC (161.3 +/- 5.4 cm, p = 0.01) females. In conclusion, while the patients as a group entered puberty earlier than the general population, SW males entered puberty the earliest and had the most compromised FH outcome.


Assuntos
Hiperplasia Suprarrenal Congênita/fisiopatologia , Estatura/fisiologia , Desenvolvimento Infantil/fisiologia , Puberdade/fisiologia , Maturidade Sexual/fisiologia , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Estudos Longitudinais , Masculino , Estudos Retrospectivos , Fatores Sexuais , Esteroide 21-Hidroxilase/metabolismo
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