Objective: To investigate the genetic basis of RhD-negative phenotype in the blood donor population of Nantong City. Methods: RHD genotyping was performed on 386 randomly selected RhD-negative donor samples (from a total of 676 RhD-negative donors identified between January 20, 2023, and June 28, 2024) using polymerase chain reaction (PCR), and the inconclusive results were confirmed by nucleotide sequencing. Results: Ten RHD allele types were identified: The complete deletion variant RHD 01N.01 was predominant (64.25%, 248/386); followed by RHD 01EL.01 (19.69%, 76/386). RHD 01N.03, RHD 01N.04, RHD 01N.16 and RHD 01EL.32 were frequently observed., RHD 01EL.02, RHD 01EL.08, RHD 01EL.37 and RHD 01N.25 were rare, and two exon deletion variants remained uncharacterized. The phenotypic distribution of RhD-negative blood donors was ccee (55.44%)>Ccee(31.09%)>ccEe(5.96%)>CCee(5.44%)>CcEe(1.81%)>CcEE(0.26%), and the antigen distribution trend was e(99.74%)>c(94.56%)>C(38.60%)>E(8.03%). A correlation was observed between RHD genotypes and RhCE phenotypes. Conclusion: The Nantong blood donor population exhibits unique RHD gene polymorphisms. Integrating RhCE serological phenotyping with RHD genotyping is essential for ensuring transfusion safety.

Objective: To investigate the genetic basis of RhD-negative phenotype in the blood donor population of Nantong City. Methods: RHD genotyping was performed on 386 randomly selected RhD-negative donor samples (from a total of 676 RhD-negative donors identified between January 20, 2023, and June 28, 2024) using polymerase chain reaction (PCR), and the inconclusive results were confirmed by nucleotide sequencing. Results: Ten RHD allele types were identified: The complete deletion variant RHD 01N.01 was predominant (64.25%, 248/386); followed by RHD 01EL.01 (19.69%, 76/386). RHD 01N.03, RHD 01N.04, RHD 01N.16 and RHD 01EL.32 were frequently observed., RHD 01EL.02, RHD 01EL.08, RHD 01EL.37 and RHD 01N.25 were rare, and two exon deletion variants remained uncharacterized. The phenotypic distribution of RhD-negative blood donors was ccee (55.44%)>Ccee(31.09%)>ccEe(5.96%)>CCee(5.44%)>CcEe(1.81%)>CcEE(0.26%), and the antigen distribution trend was e(99.74%)>c(94.56%)>C(38.60%)>E(8.03%). A correlation was observed between RHD genotypes and RhCE phenotypes. Conclusion: The Nantong blood donor population exhibits unique RHD gene polymorphisms. Integrating RhCE serological phenotyping with RHD genotyping is essential for ensuring transfusion safety.

Objective:To explore the application value of chromosome karyotype analysis, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in prenatal diagnosis of isolated corpus callosum abnormality (CCA) fetus.Methods:Fetuses diagnosed with isolated CCA by ultrasound and MRI and receiving invasive prenatal diagnosis in Guangzhou Women and Children′s Medical Center and Qingyuan People′s Hospital from January 2010 to April 2021 were selected. Karyotype analysis and/or CMA [or copy number variation sequencing (CNV-seq)] were performed on all fetal samples, and WES was performed on fetal samples and their parents whose karyotype analysis and/or CMA (or CNV-seq) results were not abnormal.Results:Among 65 fetuses with isolated CCA, 38 cases underwent karyotype analysis, and 3 cases were detected with abnormal karyotypes, with a detection rate of 8% (3/38). A total of 49 fetuses with isolated CCA underwent CMA (or CNV-seq) detection, and 6 cases of pathogenic CNV were detected, the detection rate was 12% (6/49). Among them, the karyotype analysis results were abnormal, and the detection rate of further CMA detection was 1/1. The karyotype results were normal, and the detection rate of further CMA (or CNV-seq) detection was 14% (3/21). The detection rate of CMA as the first-line detection technique was 7% (2/27). A total of 25 fetuses with isolated CCA with negative results of karyotyping and/or CMA were tested by WES, and 9 cases (36%, 9/25) were detected with pathogenic genes. The gradient genetic diagnosis of chromosomal karyotyping, CMA and WES resulted in a definite genetic diagnosis of 26% (17/65) of isolated CCA fetuses.Conclusions:Prenatal genetic diagnosis of isolated CCA fetuses is of great clinical significance. The detection rate of CMA is higher than that of traditional karyotyping. CMA detection could be used as a first-line detection technique for fetuses with isolated CCA. WES could increase the pathogenicity detection rate of fetuses with isolated CCA when karyotype analysis and/or CMA test results are negative.

The clinical, neuroelectrophysiological, neuropathological characteristics and outcome of a case of acute sensory axonopathy are reported. The patient was a 32-year-old female. She presented with acute onset sensory abnormalities, sensory ataxia, pseudoathetosis and areflex. Lab testing showed cerebrospinal fluid albumin cytologic dissociation. Electromyography studies and sural nerve pathology were consistent with acute sensory axonopathy. Treatment including intravenous immunoglobulin and steroid therapy was provided. Her symptoms recovered slowly without relapse, so did tibial H-reflex amplitudes.

Objective:To evaluate the diagnostic efficiency and safety of endobronchial ultrasound-guided transbronchial needle aspiration(EBUS-TBNA)in lymph node staging of non-small cell lung cancer(NSCLC)in elderly patients.Methods:Thirty-five patients aged ≥70 years and 58 patients aged 60-69 years with NSCLC receiving EBUS-TBNA in our hospital from March 2015 to December 2018 were enrolled.All patients underwent EBUS for all visible mediastinal and hilar lymph nodes, and those with enlarged lymph nodes(short axis ≥6 mm)were further examined with TBNA.The diagnostic efficiency and safety of EBUS-TBNA were analyzed.Results:The sensitivity of EBUS-TBNA was 0.94, the specificity was 1.00, the Yoden index was 0.94, the positive predictive value was 1.00, and the negative predictive value was 0.82.Tumor staging was changed in 20 patients after EBU-TBNA, resulting in changes in assessment on tumor resectability in 5 cases.EBUS-TBNA had excellent agreement with postoperative pathology in evaluating resectability(Kappa=0.95). The sensitivity and specificity were 1.00 and 0.97, respectively.The incidence of complications of EBUS-TNBA was 6.5%.The elderly group had a worse performance status( P<0.05)compared with the control group, but the complication rates(5.7% vs 6.9%, P>0.05)were similar between the two groups. Conclusions:EBUS-TBNA is highly effective and safe in the diagnosis of NSCLC in patients aged 70 and older.

Recently, neuromyelitis optica spectrum disorders (NMOSD) appear to be a multi-organ disorder, however, the involvement of myocardium in NMOSD is extremely rare. In the present article, we present a young girl who manifested bilateral optic neuritis, area postrema syndrome, brainstem syndrome and transverse myelitis, as well as tachycardia, abnormal electrocardiograph, moderate elevation of myocardial biomarker and regional wall movement abnormalities, which confirmed the diagnosis of Takotsubo cardiomyopathy associated with NMOSD. The neurological deficits along with myocardial injury were recovered soon after the administration of intravenous methylprednisolone and intravenous immunogloblin. This is a rare case that should be paid attention and by which can not only broaden the symptom spectrum of NMOSD, but can also provide novel visions for further investigating the mechanism of organs damage.

Objective To investigate the clinical,imaging,intestinal pathological characteristics and prognosis of gluten ataxia (GA).Methods The clinical data,treatment and prognosis in a patient with GA that was confirmed by pathology and hospitalized in the Department of Neurology,China-Japan Friendship Hospital in July 2018,were analyzed retrospectively.The related literature was reviewed and the clinical feature was summarized.Results The patient is a 41-year old man.He suffered from progressive cerebellar ataxia,and the brain magnetic resonance imaging exhibited diffused cerebellar atrophy.Serum human leukocyte antigen (HLA) tests showed that the patient carried HLA-DQ2 genotype.IgA type anti-gliadin antibody was positive (39.39 RU/ml).Duodenoscopy biopsy revealed mild villus atrophy and lymphocytic infiltration,indicating celiac disease.The diagnosis of GA was established then and the patient was administered gluten-free diet combined with intravenous immunoglobulin,which markedly improved the cerebellar symptoms and signs of cerebellar speech,walk capability and daily living activities.He could do long distance driving independently two months later.Conclusions GA is one of immune-mediated reversible acquired cerebellar ataxia caused by gluten sensitivity.The genotype,serologic features,and clinical phenotype of GA in Chinese mainland population might be similar with those in European and American countries.

OBJECTIVE: To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation. METHODS: A comprehensive analysis including clinical investigation and genetic testing was carried out. RESULTS: The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A. CONCLUSION Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.
DNA Mutational Analysis ; Galactosylceramidase ; genetics ; Genetic Testing ; Humans ; Leukodystrophy, Globoid Cell ; complications ; genetics ; Mutation ; Peripheral Nervous System Diseases ; etiology

Objecitve To study the inhibitory effect of pioglitazone on inflammation factors in patients with bladder cancer. Methods A total of 100 consecutives diagnosed as bladder cancer from Februray 2013 to Februray 2014 were individed ran-domly into experiment and control groups and each of 50 cases.All patients received the appropriate operation or chemother-apeutic regimens,and the patients in experiment group received pioglitazone (15 mg/d×12 weeks)at the same time.Then to compare expression differences of high-sensitive C reactive protein (hs-CRP),tumor necrosis factor alpha (TNF-alpha),in-terleukin (IL-6)and HOMA-IR,MCP-1,MIP-1 levels.Results The levels of hs-CRP,TNF-αand IL-6 in the two groups af-ter treatment were all lower (P <0.05),and in experiment groups they were significantly lower than control group (P <0.05).The levels of HOMA-IR,MCP-1 and MIP-1 in the two groups after treatment were all lower (P <0.05),and in ex-periment groups they were significantly lower than control group(P <0.05).The complication rate in the two groups were no statistical difference (P >0.05).Conclusion Pioglitazone could improve clinical effect and prognosis by lowing inflam-mation factors including hs-CRP,TNF-α,IL-6,HOMA-IR,MCP-1 and MIP-1 in patients with bladder cancer.

Objective To study the clinical and imaging characteristics of Chinese atopic myelitis (AM) patients.Methods Three diagnosed AM patients were retrospectively analyzed for the clinical data,serum IgE level,antigen specific IgE,cerebrospinal fluid,spinal MRI and therapeutic efficacy profiles.Results All the three patients were male and presented as subacute AM with the onset at 25,47 and 49 years old respectively.Two patients were allergic to pollen and other drugs,while another patient suffered from allergic rhinitis.Elevated serum total IgE and mite antigen specific IgE were found in all cases.Paraesthesia in limb extremities and positive Lhermitte sign were the main clinical features,while no optic,motor,urinary and defecation disturbance were found.Oligoclonal banding of cerebrospinal fluid and serum aquaporin 4 (AQP4) antibody were both negative in all cases.Spinal MRI showed lesions were hypointense on T1 and hyperintense on T2 at the posterior column of T2-3 segment with abnormal enhancement in case 1,hypointense on T1 and hyperintense on T2 at C2/3 segment with mild swelling in case 2 and hypointense on T1 and hyperintense on T2 at C3-5 segments with swelling and abnormal enhancement in case 3.Vitamin B were used in one patient,while the other two patients improved after the treatment with high-dose corticosteroids.Conclusions Subacute myelitis predominantly presents as paraesthesia in limb extremities with elevated serum total IgE and mite antigen specific IgE,while severe motor disorders are rare.Swelling and abnormal enhancement lesions at the posterior column of cervical cord are the common imaging features.Treatment with corticosteroids is recommended to be sustained for 3-6 months.