Artificial intelligence improves accuracy, efficiency, and reliability of a handheld infrared eccentric autorefractor for adult refractometry.

Aim: To evaluate the accuracy, efficiency, and reliability of a handheld infrared eccentric autorefractor (hICA) with artificial intelligence (AI) by comparing its refraction measurements to those recorded using hICA and a clinical table-mounted automatic refractor (TAR).

Methods: A cross-sectional study using three optometers, including hICA with or without AI and TAR, for refractometry of adults (aged 19-49 years old) with no signs of ocular disease or trauma in the absence of cycloplegia. Right and left eye refraction data were recorded, including the spherical equivalent (SE), diopter of spherical power (DS), diopter of cylindrical power (DC) decomposed into vectors J0 and J45, and measurement times.

[Observation on therapeutic effect of acupuncture intervention combined with hyperbaric oxygen therapy for delayed encephalopathy caused by carbon monoxide poisoning].

Objective: To observe the curative effect of acupuncture intervention combined with hyperbaric oxygen chamber treatment for delayed encephalopathy in 32 carbon monoxide (CO) poisoning patients.

Methods: A total of 62 CO poisoning encephalopathy patients were randomized into control group (n = 30) and acupuncture group (n = 32). Patients of the two groups were all treated with medicines (energy mixture solution, hormones, brain cell activators, calcium ion blockers, anti-inflammatory agents, etc.

[Identification of novel KIT gene mutations in two Chinese families with piebaldism].

Objective: To screen for potential mutations of KIT gene for two Chinese families affected with piebaldism in order to facilitate genetic counseling and assisted reproduction.

Methods: Peripheral blood samples were collected from 2 patients of family 1 and the proband and 3 unaffected members of family 2 for the extraction of DNA and RNA. PCR-sequencing and reverse transcription PCR-sequencing were used to screen KIT mutations.

[A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome].

Objective: To determine the karyotype of a boy suspected to have Cri du Chat syndrome with severe clinical manifestations, and to assess the recurrence risk for his family.

Methods: High-resolution GTG banding was performed to analyze the patient and his parents. Fluorescence in situ hybridization (FISH) with Cri du Chat syndrome region probe as well as subregional probes mapped to 5pter, 5qter, 18pter, 18qter, and whole chromosome painting probe 18 was performed to analyze the patient and his parents.

[Mutation screening and prenatal diagnosis of tuberous sclerosis complex].

Objective: To screen mutations of tuberous sclerosis complex (TSC) patients to confirm a clinical diagnosis of TSC, and to perform prenatal diagnosis for families with mutations.

Methods: In this study, PCR-denaturing high-performance liquid chromatography(DHPLC), supplemented with sequencing when necessary, was used to screen TSC1 and TSC2 mutations in 21 patients from 19 pedigrees visited author's hospital in the last five years. For novel mutations, one hundred unrelated healthy individuals were screened to exclude the possibility of polymorphism.

[Mutation screening and prenatal diagnosis of a pedigree with Glanzmann's thrombasthenia].

Objective: Mutation screening was performed in a pedigree of Glanzmann's thrombasthenia (GT) and prenatal diagnosis was performed.

Methods: In this study, reverse transcription-PCR-sequencing and PCR-sequencing, as well as restriction fragment length polymorphism(RFLP) and A/T-cloned-sequencing, were used to screen the ITGA2B and ITGB3 mutation in a pedigree with Glanzmann's thrombasthenia in the RNA and DNA level. Prenatal diagnosis was performed for this pedigree.

[Mutation screening of the F VIII gene in 10 hemophilia A families].

Objective: To identify the F VIII gene mutations of patients and suspected female carriers in 10 Hemophilia A (HA) families, and to guide the prenatal diagnosis.

Methods: PCR, denaturinghigh performance liquid chromatogramphy (DHPLC) and DNA sequencing technologies were applied to screen the F VIII gene of 8 HA patients and 12 suspected female carriers in the 10 families. Linkage analysis was performed by using St 14(DXS 52), intron 13 (CA)n and EX18/Bcl I of the F VIII gene in the HA families.

[Identification of a cryptic 1p36.3 microdeletion in a patient with Prader-Willi-like syndrome features].

Objective: To determine the karyotype of a patient with Prader-Willi-like syndrome features.

Methods: Chromosomal high resolution banding was carried out to analyze the karyotype of the patient, and methylation-specific PCR was used to analyze the imprinting region of chromosome 15. Subtelomeric region was screened by multiplex ligation-dependent probe amplification (MLPA), and fluorescent in situ hybridization (FISH) and real-time quantitative PCR were further performed to identify the deleted region.

Mutation Analysis and Prenatal Exclusion of Fibrodysplasia Ossificans Progressiva in a Chinese Fetus.

Aims: Fibrodysplasia ossificans progressiva (FOP) is a rare and severely disabling autosomal dominant disorder characterized by congenital malformations of the great toes and progressive postnatal heterotopic ossification. A point mutation in the activin receptor IA (ACVR1) gene is the cause of FOP. Most of the reported cases of FOP are sporadic and caused by de novo mutations; however, some rare cases can also result from parental germline mosaicism associated with a greater risk of recurrence in successive pregnancies.

Crypt Y chromosome fragment resulting from an X;Y translocation in a patient with premature ovarian failure.

Objective: To identify a cryptic Y chromosome fragment that resulted from a X;Y translocation in a patient with premature ovarian failure (POF) and analyze the karyotype-phenotype correlation.

Design: Case report.

Setting: A university-based reproductive medicine center.

[Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism].

Objective: To identify the mutations of the tyrosinase gene (TYR) and P gene in patients with oculocutaneous albinism (OCA).

Methods: Polymerase chain reaction (PCR) and denaturing high performance liquid chromatography (DHPLC) were applied to detect the mutations in all exons of TYR gene and P gene. Then DNA sequencing and restriction endonuclease analysis were used to confirm the mutations detected by DHPLC.

Molecular cloning and characterization of a novel transcript variant of Mtsarg1 gene.

Mtsarg1 (Mus musculus testis and spermatogenesis cell apoptosis-related gene 1) gene with 1103 bp in full length had been cloned previously (GenBank accession number: AF399971, 2002; re-designated as Spata3, Mus musculus spermatogenesis-associated 3, 2007). In the present study, we identified a novel transcript variant of Mtsarg1, named Mtsarg1-beta which is 887 bp in length (GenBank accession numbers: EU259321 and EF546784, 2007, designated as Spata3 variant 4) by reverse transcription-polymerase chain reaction (RT-PCR), cloning and sequencing. Mtsarg1-beta which has high similarity with Mtsarg1 contains an entire open reading frame of 417 bp encoding a protein consisting of 138 amino acids.

[Identification and characterization of marker chromosome in Turner syndrome].

Objective: To analyze the karyotypes of 11 cases of Turner syndrome with marker chromosome, and study the phenotypic effects resulting from the abnormal karyotype.

Methods: Eleven Turner syndrome patients had a mosaic karyotype and carried a marker chromosome, and 6 marker chromosomes were ring chromosomes. Their karyotypes were showed as mos.

[Mutation detection of PKD1 gene in patients with autosomal dominant polycystic kidney diseases].

Objective: To detect gene mutation in the patients with autosomal dominant polycystic kidney disease (PKD).

Methods: Polymerase chain reaction (PCR)-denaturing high-performance liquid chromatography (DHPLC) analyses were performed in 3o single copy region of PKD 1 gene (PKD1). DNA sequencing were carried out on PCR products with abnormal peak shape afterwards.

[Delineating a supernumerary marker chromosome by combining several cytogenetic and molecular cytogenetic techniques].

Objective: To characterize a supernumerary marker chromosome (SMC) by comparative genomic hybridization (CGH), fluorescence in situ hybridization (FISH) and traditional cytogenetic techniques, and to explore the clinical application of these techniques in delineating de novo marker chromosomes.

Methods: A mental retardation patient received chromosome test by ordinary G banding. CGH and FISH techniques were used to analyze the origin of the de novo SMC, and N banding technique and C banding techniques were used to analyze the SMC structure.

[Expression of a novel spermatogenesis gene SRG4 in postpartum normal and cryptorchid mouse testis].

To understand the function of SRG4, a novel spermatogenesis gene, we studied its expression pattern during normal mouse development and in experimental cryptorchidism. Testis tissues were collected from 1-, 3-, and 12-week-old normal mice and immunohistochemistry was used to detect the expression of SRG4. We performed surgery on mice to cre- ate unilateral cryptorchidism and monitored SRG4 mRNA levels by semi-quantitative RT-PCR in the cryptorchid testis from day 0-18.

[Mutation screening and prenatal diagnosis of hidrotic ectodermal dysplasia in a Chinese family].

Objective: To analyze the mutations in Cx30 gene in a Chinese family with hidrotic ectodermal dysplasia (HED) and to make prenatal diagnosis on the embryo which has been pregnant for 5 months.

Methods: A family including 2 affected and 4 unaffected individuals was collected, and their informed consents were obtained. The affected woman had a five-month pregnancy.

A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease.

Objective: To identify the mutation in transforming growth factor-beta1 gene (TGF beta1) in a Chinese patient with Camurati-Engelmann disease(CED).

Methods: Denaturing high-performance liquid chromatography (DHPLC) analysis was performed on the whole seven coding exons and exon-intron boundaries, then the mutation was identified by direct sequencing.

Results: Mutation screening of TGF beta1 in this patient revealed a heterozygous missense mutation R218H in exon 4.

[Minute chromosome rearrangement detected by human telomeric band painting probes].

In order to assess the value of applying human chromosomal telomeric band painting probes (TBPs) in genetic diagnosis, we used three human telomeric band painting probes in fluorescence in situ hybridization (FISH) to analyze two cases who had a history of habitual abortion and were suspected to carrying a minute translocation. The probes were prepared by microdissection, and the covered regions were 11q23.3-->qter12q24.

Molecular cloning and preliminary function study of a novel human gene, TSARG7, related to spermatogenesis.

A novel human gene TSARG7 (GenBank accession No. AY513610) was identified from a human testis cDNA library by using the mTSARG7 gene (GenBank accession No. AY489184) as an electronic probe.

[Genetic diagnosis of Huntington disease].

We report here a simple and effective method to assess the CAG repeat size of HD gene for gene diagnosis of Huntington disease. Genomic DNA sequences in polymorphic CAG repeat HD gene was amplified by PCR with TaKaRa LA Taq DNA polymerase and GC buffer. To distinguish normal alleles from HD alleles, DNA fragments of affected alleles were recovered as templates for secondary PCR.

[Identification of the resource suspected sperm by DNA fingerprinting].

Objective: To identify the resource suspected sperm of donor in human sperm bank and apply the parentage testing between the donor and his offspring.

Methods: We took the 6 semen specimen of the donor involved and correspondently suspected semen as well as the semen of one volunteer and peripheral blood of his offspring. All specimens were amplified by PCR, and DNA fingerprint was detected by PAGE electrophoresis.

Two novel mutations in SRY gene form Chinese sex reversal XY females.

The SRY gene (sex determining region on Y chromosome) acts as TDF and is required for regulating male sex determination. SRY represents a transcription factor belonging to the superfamily of genes sharing the HMG-box motif (high-mobility group-box), which acts as DNA binding region. Deletion and inactivating mutations of SRY are among the known causes of XY sex reversal.

Molecular cloning of a novel mouse testis-specific spermatogenic cell apoptosis inhibitor gene mTSARG7 as a candidate oncogene.

A novel mouse gene, mTSARG7 (GenBank accession No. AY489184), with a full cDNA length of 2279 bp and containing 12 exons and 11 introns, was cloned from a mouse expressed sequence tag (GenBank accession No. BE644543) that was significantly up-regulated in cryptorchidism.