Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II

Nguyen, Thu Hien; Nguyen, Ngọc-Lan; Vu, Chi Dung; Ngọc, Cấn Thị Bích; Nguyen, Ngoc Khanh; Nguyen, Huy-Hoang

doi:10.1007/s13258-020-01032-5

Cited by 5 publications

(2 citation statements)

References 27 publications

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“…China's medical IoT system started in 2004, which is a late start compared with developed countries, and its development history is shown in Figure 1 . At this stage, the construction of medical IOT system in China is gradually transitioning from the primary stage of hospital information based on revenue and expenditure management to the advanced stage based on clinical information [ 16 , 17 ], and steadily realized the transformation from “cost-centered” to “patient-centered” [ 18 ]. The shift from “cost-centered” to “patient-centered” has been steadily achieved [ 19 ].…”

Section: Related Workmentioning

confidence: 99%

Role of Medical IoT-Based Bone Age Determination in the Diagnosis and Clinical Treatment of Dwarfism Disease Monitoring

2022

Contrast Media & Molecular Imaging

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Currently, the prevalence of dwarfism in children in China is about 3%, which is a very large percentage compared with the large population base. With the increase of influencing factors, the prevalence of dwarfism is on the increase. However, there is a lack of awareness of dwarfism among parents and a lack of in-depth analysis of the causes of dwarfism and a low level of treatment among doctors. Early expert system knowledge base relies on manual editing, which is a traditional, semi-intelligent auxiliary diagnostic system, and is unable to perform disease diagnosis and clinical treatment monitoring well. Many studies have turned to the combination of IoT for bone age determination and its role in the diagnosis and monitoring of clinical treatment of dwarfism. In this study, 15 children with short stature who underwent health checkups at a hospital were enrolled in the study, and a G-P spectrum method was used to determine the bone age of all the enrolled subjects, and the results obtained in the process of bone age determination were systematically analyzed. The results showed that the bone age measurement technique has sufficient reference value for evaluating the quality and diagnosing diseases, and the research and development of this technique is of great significance for the development of modern clinical medicine.

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Section: Related Workmentioning

confidence: 99%

Role of Medical IoT-Based Bone Age Determination in the Diagnosis and Clinical Treatment of Dwarfism Disease Monitoring

2022

Contrast Media & Molecular Imaging

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“…The DNA library was prepared according to the instructions of the Agilent SureSelect Target Enrichment Kit (Agi-lent Technologies, CA, USA) and sequenced on Illumina sequencer (Illumina, CA, USA). The bioinformatics tools used for data analysis were Burrows-Wheeler Aligner tool v0.7.12 (Li & Durbin, 2009), Picard tool v1.130 (http://broadinstitute.github.io/picard/), Genome Analysis Toolkit v3.4.0 (McKenna et al, 2010) and SnpEff v4.1 (http://snpeff.sourceforge.net/SnpEff.html) (Nguyen et al, 2021). Then, candidate variants in the pathogenic genes related to DSD (AR, SRY, NR5A1, SRD5A2, HSD17B3, HSD17B2, MAMLD1, NROBI, CYP11A1, CYP21A2, CYP17, CYP11B1, and CYP19A1) were screened.…”

Section: Whole Exome Sequencing and Sanger Sequencingmentioning

confidence: 99%

Detection of c.G2194A mutation in \(\textit{AR}\) gene of a vietnamese patient with androgen insensitivity syndrome: a case report

Nguyen

Kim

Nguyễn³

et al. 2022

AJB

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Androgen insensitivity syndrome (AIS) is a rare X-linked recessive androgen receptor (AR) disorder. However, the overlap in clinical manifestations between AIS and other disorders of sex development can cause clinical diagnostic difficulties. Applying the whole coding region sequencing method is an optimal method for the diagnosis of AIS. In this study, whole-exome sequencing was performed to screen mutations in the AR gene as well as genes related to disorders of sex development (DSD). Sanger sequencing was applied to validate the mutations in the patient. One missense mutation in the AR gene which was reported previously was identified in the patient. In this site, nucleotide G is changed to A at position 2194 on cDNA (c.G2194A), leading to a substitution of aspartic at position 732 aspartic to asparagine (p.Asp732Asn). However, this is the first published case in a Vietnamese with this mutation. Our study expands the mutation spectrum of the AR gene in Vietnamese patients and confirms the usefulness of whole-exome sequencing in the diagnosis of AIS. The results of the study are the basis for supporting doctors in prenatal diagnosis and giving reasonable advice to patients and families.

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Supercomputing of reducing sequenced bases in de novo sequencing of the human genome

2022

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Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II

Cited by 5 publications

References 27 publications

Role of Medical IoT-Based Bone Age Determination in the Diagnosis and Clinical Treatment of Dwarfism Disease Monitoring

Role of Medical IoT-Based Bone Age Determination in the Diagnosis and Clinical Treatment of Dwarfism Disease Monitoring

Detection of c.G2194A mutation in \(\textit{AR}\) gene of a vietnamese patient with androgen insensitivity syndrome: a case report

Supercomputing of reducing sequenced bases in de novo sequencing of the human genome

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