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1.
Hemoglobin ; : 1-3, 2021 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-34957901

RESUMO

Homozygous or compound heterozygous mutations of the ß-globin gene lead to ß-thalassemia (ß-thal) major (ß-TM) or ß-thal intermedia (ß-TI), whereas heterozygotes usually show microcytosis with negligible or no hemolysis. Certain missense mutations in exon 3, however, produce unstable globins causing a dominant ß-thal phenotype or hemolytic anemia in heterozygotes. Here we report a mutation in exon 3 of the ß-globin gene, which results in an unstable globin (Hb Dieppe) [ß127(H5)Gln→Arg; HBB: c.383A>G] with a dominant ß-thal phenotype in two generations of a Chinese family. Physicians should be alerted to this mechanism of ß-thal considering its relative rarity.

8.
Hemoglobin ; 45(4): 254-255, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34547968

RESUMO

We have identified a new α chain hemoglobin (Hb) variant in a Chinese subject. Sequencing of the α-globin gene revealed a mutation in exon 1 at nucleotide 55, which results in the replacement of a glycine by cysteine at codon 18 [α18(A16)Gly→Cys, HBA2: c.55G>T] that we have named Hb Jiujiang for the region of origin of the proband.

9.
Phys Chem Chem Phys ; 23(35): 19790-19794, 2021 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-34525139

RESUMO

Evolutionary algorithm-aided density functional theory calculations were utilized to determine the stable adsorption structures of H2O at ZnO(112̄0) extensively under different coverages. By decomposing the adsorption energetics, we illustrate that H2O dissociation to a large extent is actually hampered by the barrier for induced distortion of the ZnO surface, and once the surface becomes less difficult to be distorted it will exhibit higher hydrophilicity or even superhydrophilicity. Specifically, photo-stimulation modelling suggests that the surface Zn-O bonds can be weakened by photo-excitation, and the layer of fully dissociated H2O can be then facilitated to form. Accordingly, a novel mechanism for photo-induced superhydrophilicity is proposed.

10.
Prenat Diagn ; 41(11): 1425-1429, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34486758

RESUMO

OBJECTIVE: To evaluate the utility of clinical exome sequencing (ES)-based carrier screening in Chinese consanguineous couples. METHODS: Consanguineous couples were screened for autosomal recessive (AR) disorders using the clinical ES of 5000 genes associated with human diseases. RESULTS: We recruited 14 couples who elected to have sequencing. One couple was related as first cousins and 13 as second cousins. Both partners carrying the same pathogenic variant were detected in four couples. One couple was found in which one partner carried a splice variant, and the other had a missence variant of the same gene. These five couples were identified as being at risk of having a child affected by an AR disorder. CONCLUSION: Our study demonstrates that ES-based preconception screening yields a clinical value for Chinese consanguineous couples. It enables to detect at-risk couples for rare AR diseases.

11.
J Matern Fetal Neonatal Med ; : 1-3, 2021 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-34496712

RESUMO

OBJECTIVE: To assess the efficacy of positive feedback closed-loop management system (PFCMS) protocol in influencing parents' decision about pregnancy continuation in pregnancies diagnosed with omphalocele. METHODS: This was a retrospective cohort study of patients who were diagnosed with fetal omphalocele prior to 20 weeks' gestation by ultrasound and were referred to Fetal Care Center at a mainland Chinese medical center during an 11-year period. Two management strategies were offered during the two stages of the study period: a single consultant with a routine protocol and a multidisciplinary support team with PFCMS, respectively. We analyzed the two protocols influencing parents' decision about pregnancy continuation. RESULTS: Forty-nine patients diagnosed with fetal omphalocele were included in this study. In Group A including 16 patients with routine protocol during the first stage of the study period, the majority opted for termination, and only five continued the pregnancy. In Group B including 33 patients with PFCMS during the second stage of the study period, less than one third chose TOP, and 23 ended in live births. There was a significantly lower TOP rate in patients treated with the PFCMS protocol. CONCLUSION: The PFCMS protocol may be an efficient approach in managing pregnancies complicated by omphalocele, which may help in preventing unnecessary pregnancy terminations.

13.
Hemoglobin ; 45(4): 220-224, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34309467

RESUMO

We describe a new δ/ß fusion gene causing ß-thalassemia (ß-thal) trait and its formation mechanism. The proband was a 39-year-old woman who presented with persistent microcytic microcytosis without iron deficiency. Molecular diagnoses revealed a 뫧 configuration within a 54 bp region between the Cap site (+22) and codon 8, causing a deletion (NG_000007.3: g.63154_70565del). This results in a variant that has been named Hb Lepore-Hong Kong and shows a decreased ß-globin mRNA in carriers compared to that of normal subjects. It is assumed that combination of this variant with ß-thal may cause severe ß-thal syndrome.

15.
Eur J Obstet Gynecol Reprod Biol ; 263: 176-180, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34218205

RESUMO

OBJECTIVE: To evaluate the prognosis of fetuses with a prenatal diagnosis of micrognathia in the first trimester. STUDY DESIGN: Over a 3-year period, patients with fetal micrognathia were detected at the time of nuchal translucency screening. The medical records of these pregnancies were reviewed, including maternal demographics, sonographic findings, genetic testing results and pregnancy outcomes. RESULTS: Forty-three cases of first-trimester micrognathia were included in this study. Chromosomal abnormalities were detected in seven cases. Of the fetuses with a normal array, further investigation of monogenic disorders with whole-exome sequencing was undertaken in 13 cases. Monogenic syndromes were identified in eight cases, including six with de-novo dominant alleles and two with recessive conditions. Whole-exome sequencing was refused in 23 cases; among these, other additional anomalies were found on anatomic ultrasound in 10 cases. CONCLUSION: This study demonstrated that caution should be adopted when finding an apparently isolated micrognathia in early gestation, even with a normal array. A diagnosis of genetic syndrome or multiple anomalies on subsequent scans is most likely, and will affect the final prognosis.


Assuntos
Micrognatismo , Feminino , Feto/diagnóstico por imagem , Humanos , Micrognatismo/diagnóstico por imagem , Micrognatismo/genética , Medição da Translucência Nucal , Gravidez , Primeiro Trimestre da Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
19.
Hemoglobin ; 45(3): 210-211, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34039242

RESUMO

We report a rare mutation, HBA2: c.184A>T on the α2-globin gene, detected in a Chinese proband who presented with Hb H disease and a mild anemia. This frameshift mutation results in a premature termination of translation at position 61 of the α2-globin gene. Carriers of this mutation showed a borderline microcytic hypochromia. Our study indicates the importance of screening nondeletional α-thalassemia (α-thal) in areas with a particularly high prevalence of thalassemia such as in Southern China, especially for couples with one partner carrying an α0-thal deletion.

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