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Background: Copy number variants (CNVs) contribute significantly to normal and pathogenic genomic variations. Chromosome 17q12 microdeletion is implicated in structural or functional kidney and urethral abnormalities, MODY5 (type 5 diabetes), and neurodevelopmental or neuropsychiatric disorders. Conversely, microduplication of 17q12, though rare, elevates the risk of epilepsy and mental retardation. Case Presentation: This study focuses on a 33-year-old woman (gravida 1, para 0) who underwent amniocentesis at 22 weeks gestation due to bilateral hyperechogenic kidneys observed on prenatal ultrasound. Results: Chromosomal microarray analysis (CMA) unveiled a 1.46-Mb microdeletion on chromosome 17q12 in the fetus, spanning positions 35,802,057 to 37,261,945 (hg19). Trio whole-exome sequencing (WES) revealed 17q12 microdeletion in the fetus and 17q12 microduplication in the father. Notably, at the 3-year follow-up, the baby exhibited a normal phenotype. Conclusions: This research provides a comprehensive description of the phenotype in a rare family featuring 17q12 microdeletion and microduplication. Employing a combination of karyotype analysis, CMA, WES, prenatal ultrasound, and genetic counseling proves helpful in the prenatal diagnosis of chromosomal microdeletions/microduplications.
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The development of noninvasive and sensitive detection methods for the early diagnosis and monitoring of bladder cancer is critical but challenging. Herein, an ultrasensitive electrochemiluminescence (ECL) immunosensor that uses Ru(bpy)32+-metal-organic framework (Ru-MOF) nanospheres and a DNA tetrahedral (TDN) probe was established for bladder cancer marker complement factor H-related protein (CFHR1) detection. The synthesized Ru(bpy)32+-metal-organic frameworks (Ru-MOFs) served as a linked substrate for immobilization of AuNPs and antibody (Ab2) to prepare the ECL signal probe (Ru-MOF@AuNPs-Ab2), exhibiting a stable and strengthened ECL emission. At the same time, the inherent advantages of TDN probes on the electrode as the capture probe (TDN-Ab1) improve the accessibility of targets to probes. In the presence of CFHR1, the signal probe Ru-MOF@AuNPs-Ab2 was modified on the electrode through immune binding, thereby obtaining an outstanding ECL signal. As expected, the developed ECL immunosensor exhibited splendid performance for CFHR1 detection in the range of 0.1 fg/mL to 10 pg/mL with a quite low detection limit of 0.069 fg/mL. By using the proposed strategy to detect CFHR1 from urine, it showed acceptable accuracy, which can effectively distinguish between bladder cancer patients and healthy samples. This work contributes to a novel, noninvasive, and accurate method for early clinical diagnosis of bladder cancer.
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A novel ECL immunosensor was developed for simultaneous determination of multiplex bladder cancer markers. DNA tetrahedra act as capture probes, while Ru-MOF@AuNPs and AuAgNCs act as signal reporters, yielding well-separated signals reflecting NUMA1 and CFHR1 concentrations. This strategy offers a new platform for clinical immunoassays, enabling simultaneous multiplex tumor marker detection.
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A novel and reusable electrochemiluminescence biosensor was developed based on tetrahedral DNA (TDN) signal amplification for ultrasensitive detection of miRNA-27a. The flowered nickel-iron layered double hydroxide@AuNPs (NiFe-LDH@AuNPs) composites increase the amount of hairpin DNA fixed on the electrode. When miRNA is present, TDN-Ru(bpy)32+ acts as an ECL probe, forming a stable sandwich structure with miRNA-27a and hairpin DNA through base complementation pairing, thus achieving miRNA detection. This biosensor has the characteristics of high sensitivity, excellent selectivity, and good reproducibility.
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Técnicas Biossensoriais , Nanopartículas Metálicas , MicroRNAs , Ouro/química , Reprodutibilidade dos Testes , Medições Luminescentes , Nanopartículas Metálicas/química , DNA/química , Técnicas Eletroquímicas , Limite de DetecçãoRESUMO
OBJECTIVE: To investigate the characteristics of sensory gating P50 of patients with first-episode schizophrenia. METHODS: The auditory evoked potentials P50 were recorded in 66 patients (Group Sch) with first-episode schizophrenia and 92 normal controls (Group NC) by using conditioning/testing paradigm presented with auditory double click stimuli. RESULTS: The value of S1-P50 of Group Sch was 3 microV +/- 2 microV, significantly lower than that of Group NC (6 microV +/- 3 microV, P <0.01). The value of S2-P50 of Group Sch was 4 microV +/- 2 microV, significantly higher than that of Group NC (2 microV +/- 1 microV, P < 0.01). The S2/S1 ratio of Group Sc was 81% +/- 40%, significantly higher than that of Group NC (42% +/- 21%, P < 0.01). The value of S2 - S1 of Group Sch was 2 microV +/- 1 mciroV, significantly lower than that of Group Sch (3 mciroV +/- 2 microV). The value of 100 (1-S2/S1) of Group Sch was 19% +/- 17%, significantly lower than that of Group NC (58% +/- 21% , P < 0.01). CONCLUSION: Sensory gating deficit exists in the patients with first-episode schizophrenia, manifested in deficiency of inhibition that can be quantitatively observed by measuring auditory evoked potential P50.
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Potenciais Evocados Auditivos/fisiologia , Esquizofrenia/fisiopatologia , Adolescente , Adulto , Atenção , Eletroencefalografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tempo de ReaçãoRESUMO
OBJECTIVE: To observe the therapeutic effect of needle-pricking therapy combined with spinal massage on ankylosing spondylitis and to probe into the mechanism. METHODS: Ninety-three cases who were definitely diagnosed as having ankylosing spondylitis at active stage were randomly divided into a medication group (n=46) and an observation group (n=47). The observation group were treated by needle-pricking the main points, Neck No. 2 nerve, Neck No. 5 nerve point, etc., combined with spinal rotation massage, and the medication group were treated with Azulfidine. Changes of cumulative score of arthralgia and arthroncus, function of joint, Keitel test, and ESR and CRP before and after treatment were observed. RESULTS: The effective rate and the markedly effective rate were 95.8%0 and 68.1% in the observation group and 78.3% and 23.9% in the medication group, respectively, the former being significantly better than the latter (P < 0.01). CONCLUSION: Needle-pricking therapy combined with spinal massage has a significant therapeutic effect with a steady and long-term effect for treatment of ankylosing spondylitis at active stage.