LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.

Hemoglobinopathies are the most common monogenic disorders worldwide. Substantial effort has been made to establish databases to record complete mutation spectra causing or modifying this group of diseases. We present a variant database which couples an online auxiliary diagnosis and at-risk assessment system for hemoglobinopathies (DASH). The database was integrated into the Leiden Open Variation Database (LOVD), in which we included all reported variants focusing on a Chinese population by literature peer review-curation and existing databases, such as HbVar and IthaGenes. In addition, comprehensive mutation data generated by high-throughput sequencing of 2,087 hemoglobinopathy patients and 20,222 general individuals from southern China were also incorporated into the database. These sequencing data enabled us to observe disease-causing and modifier variants responsible for hemoglobinopathies in bulk. Currently, 371 unique variants have been recorded; 265 of 371 were described as disease-causing variants, whereas 106 were defined as modifier variants, including 34 functional variants identified by a quantitative trait association study of this high-throughput sequencing data. Due to the availability of a comprehensive phenotype-genotype data set, DASH has been established to automatically provide accurate suggestions on diagnosis and genetic counseling of hemoglobinopathies. LOVD-DASH will inspire us to deal with clinical genotyping and molecular screening for other Mendelian disorders.

Interleukin-7 gene polymorphism rs766736182 associates with the risk of asthma in children.

BACKGROUND: Recently studies uncovered associations between polymorphisms of interleukin genes and the risk of asthma. However, the relationship between polymorphisms of interleukin-7 gene and the risk of children asthma has not been discovered yet. This study aims to investigate the relationship between single nucleotide polymorphisms (SNPs) on interleukin-7 gene and the risk of children asthma. METHODS: We genotyped eight SNPs of interleukin-7 gene in blood samples from 437 asthma patients and 489 healthy controls to analyze potential associations of these SNPs with the risk of asthma in children. RESULTS: A missense SNP rs766736182 (odds ratio (OR) = 2.185, 95% confidence interval (CI) = 1.561-2.252, P-value = 8.69468E-19) of the interleukin-7 gene is associated with the risk of children asthma. CONCLUSIONS: This study reveals that SNP rs766736182 of interleukin-7 is the risk factor for children asthma and implies potential role of immune system in the pathogenesis of children asthma.

Recent advances in delivery mechanisms for aerosol therapy during pediatric respiratory diseases.

The treatment of pediatric surgery diseases via utilization of aerosol delivery mechanisms is in progress for the betterment of pediatric care. Over the years, aerosol therapy has come to play an integral role in the treatment of pediatric respiratory diseases. Inhaled aerosol agents such as bronchodilators, corticosteroids, antibiotics, and mucolytics are commonly delivered to spontaneously breathing pediatric patients with a tracheostomy. Administering therapeutic inhaled aerosols to pediatric patients is challenging. The pediatric population ranges in age, which means patients with different airway sizes, breathing patterns, and cooperation levels. These patient-related factors impact the deposition of aerosol drugs in the lungs. The present review article will discuss the recent advancements in the delivery mechanisms for aerosol therapy in pediatric patients with respiratory diseases.

[Influence of aerobic exercise on oxidative stress and PPARα in myocardium in metabolic syndrome rats].

OBJECTIVE: This experiment was to investigate the effect of aerobic exercise on oxidative stress response and expression of peroxisome proliferator activated receport α( PPARα) in cardiovascular of metabolic syndrome( MS) rat. METHODS: 49 4-week male rats were randomly assigned to two groups: control group( C) with 6 rats with normal diet and MS model group with 43 rats with high fat diet. After 18 weeks, assigned the successful MS modeling high fat diet rats to model control group( MC) with 8 rats and model exercise group( ME) with 8 rats. The ME rats exerted aerobic treadmill exercise 12 weeks. Concurrent execution all rats to test the oxidative stress factors in serum including monocyte chemoattractant protein 1( MCP-1), plasminogen activator inhibitor 1( PAI-1), oxidized low density lipoprotein( ox-LDL), endothelial nitric oxide synthase( e NOS) andPPARα mRNA expression and protein content in myocardium. RESULTS: Compared to C group, MC group rats PAI-1, ox-LDL, e NOS showed increased in serum( P < 0. 05 or P < 0. 01) and PPARα mRNA expression and the protein content decreased significantly( P < 0. 01, P < 0. 05) in myocardium. Compare to MC group, ME group rats MCP-1, PAI-1 showed decreased with statistically significant( P < 0. 05, P < 0. 01) and ox-LDL decreased but without statistical difference in serum and e NOS increased without statistically significant, PPARα mRNA expression increased( P < 0. 05) with the protein content increased with statistically significants( P < 0. 01) in myocardium. CONCLUSION: Oxidative stress increased in MS rats, aerobic exercise could decrease the oxidative stress to reducing the damage of oxidative stress in cardiovascular. The possible mechanism of exercise anti-oxidation stress was the changed PPARα transcription and translation by exercise mediated oxidation stress response in cardiovascular.

CARE: an observational study of adherence to home nebulizer therapy among children with asthma.

BACKGROUND: The prevalence of pediatric asthma in China is approximately 3%, and asthma remains poorly controlled in many of these patients. This study assessed the rate of adherence to home nebulizer treatment in paediatric patients in China. METHODS: The CARE study was a 12-week, multicentre, prospective, observational study across 12 tertiary hospitals in China. Patients were aged 0-14 years, clinically diagnosed with asthma and prescribed home nebulizer inhaled corticosteroid (ICS) therapy for ⩾3 months. The primary endpoint was electronically monitored treatment adherence. Patients attended onsite visits at 0, 4, 8 and 12 weeks to assess asthma control, severity and treatment adherence (recorded by electronic monitoring devices and caregivers). RESULTS: The full analysis set included 510 patients. Median treatment adherence reported by electronic monitoring devices was 69.9%, and median caregiver-reported adherence was 77.9%. The proportion of patients with well-controlled asthma increased from 12.0% at baseline to 77.5% at visit 4. Increased time between asthma diagnosis and study enrolment was a significant predictor for better adherence [coefficient: 0.01, p = 0.0138; 95% confidence interval (CI): 0.00, 0.01] and asthma control (odds ratio = 1.001, p = 0.0498; 95% CI: 1.000, 1.002). Negative attitude to treatment by the caregiver was associated with poorer asthma control. CONCLUSIONS: Adherence to home nebulization, a widely used treatment for asthma, was high among Chinese pediatric patients. Asthma control improved with increasing treatment duration. These results suggest that home nebulization of ICS is an effective and recommendable long-term treatment for paediatric patients with asthma.Trial registrationClinicalTrials.gov identifier: NCT03156998The reviews of this paper are available via the supplemental material section.

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.

In this study, we performed a spinal muscular atrophy carrier screening investigation with NGS-based method. First, the validation for NGS-based method was implemented in 2255 samples using real-time PCR. The concordance between the NGS-based method and real-time PCR for the detection of SMA carrier and patient were up to 100%. Then, we applied this NGS-based method in 10,585 self-reported normal couples (34 Chinese ethnic groups from 5 provinces in South China) for SMA carrier screening. The overall carrier frequency was 1 in 73.8 (1.4%). It varied substantially between ethnic groups, highest in Dai ethnicity (4.3%), and no significant difference was found between five provinces. One couple was detected as carriers with an elevated risk of having an SMA affected baby. The distribution of SMN1:SMN2 genotype was also revealed in this study. Among the individuals with normal phenotype, the exon 7 copy-number ratio of SMN1 to SMN2 proved the gene conversion between them. With NGS-based method, we investigated SMA carrier status in Chinese population for the first time, and our results demonstrated that it is a promising alternative for SMA carrier screening and could provide data support and reference for future clinical application.

Combined High-Dose LATTICE Radiation Therapy and Immune Checkpoint Blockade for Advanced Bulky Tumors: The Concept and a Case Report.

Although the combination of immune checkpoint blockades with high dose of radiation has indicated the potential of co-stimulatory effects, consistent clinical outcome has been yet to be demonstrated. Bulky tumors present challenges for radiation treatment to achieve high rate of tumor control due to large tumor sizes and normal tissue toxicities. As an alternative, spatially fractionated radiotherapy (SFRT) technique has been applied, in the forms of GRID or LATTICE radiation therapy (LRT), to safely treat bulky tumors. When used alone in a single or a few fractions, GRID or LRT can be best classified as palliative or tumor de-bulking treatments. Since only a small fraction of the tumor volume receive high dose in a SFRT treatment, even with the anticipated bystander effects, total tumor eradications are rare. Backed by the evidence of immune activation of high dose radiation, it is logical to postulate that the combination of High-Dose LATTICE radiation therapy (HDLRT) with immune checkpoint blockade would be effective and could subsequently lead to improved local tumor control without added toxicities, through augmenting the effects of radiation in-situ vaccine and T-cell priming. We herein present a case of non-small cell lung cancer (NSCLC) with multiple metastases. The patient received various types of palliative radiation treatments with combined chemotherapies and immunotherapies to multiple lesions. One of the metastatic lesions measuring 63.2 cc was treated with HDLRT combined with anti-PD1 immunotherapy. The metastatic mass regressed 77.84% over one month after the treatment, and had a complete local response (CR) five months after the treatment. No treatment-related side effects were observed during the follow-up exams. None of the other lesions receiving palliative treatments achieved CR. The dramatic differential outcome of this case lends support to the aforementioned postulate and prompts for further systemic clinical studies.

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of carriers compared with traditional tests. The aim of this study was to assess the potential value of ECS for clinical application in Southern China, a region with high prevalence of thalassemia and with diverse ethnic groups, and to provide a reference for future implementations in areas with similar population characteristics. A total of 10,476 prenatal/preconception couples from 34 self-reported ethnic groups were simultaneously tested and analyzed anonymously for 11 Mendelian disorders using targeted next-generation sequencing. Overall, 27.49% of individuals without self-reported family history of disorders were found to be carriers of at least 1 of the 11 conditions, and the carrier frequency varied greatly between ethnic groups, ranging from 4.15% to 81.35%. Furthermore, 255 couples (2.43%) were identified as carrier couples at an elevated risk having an affected baby, sixty-five of which would not have been identified through the existing screening strategy, which only detects thalassemia. The modeled risk of fetuses being affected by any of the selected disorders was 531 per 100,000 (95% CI, 497-567 per 100,000). Our data demonstrate the feasibility of ECS, and provide evidence that ECS is a promising alternative to traditional one-condition screening strategies. The lessons learned from this experience should be applicable for other countries or regions with diverse ethnic groups.

Correlation study between gene and respiratory disease in children.

The study was designed to explore the correlation between c-Jun N-terminal kinase 1 (JNK1) gene and bronchitis in children with respiratory diseases. From April 2013 to April 2015, 32 cases of children who were admitted to our hospital for bronchitis were selected as the observation group, while 28 cases of normal children in the same period were selected as the control group. The JNK1 gene expression level in the blood of patients of the control and observation groups was detected by quantitative polymerase chain reaction, enzyme-linked immunosorbent assay, and western blot analysis. Additionally, the correlation between the levels of JNK1 expression and bronchitis in children was statistically analyzed using SPSS software. JNK1 expression significantly increased in the observation group compared to the control group, and a significant difference was identified (P<0.05). Furthermore, from the detection of JNK1 protein content of blood of child bronchitis with different conditions, we found JNK1 expression gradually increased with the aggravation of bronchitis in children, showing a positive correlation. JNK1 expression was significantly higher in the blood of patients with acute pediatric bronchitis than that of patients with chronic bronchitis. In conclusion, JNK1 promotes the production and deterioration of bronchitis in children, which provides a theoretical and experimental basis for the diagnosis and treatment of children afflicted with bronchitis.

Use of aerosol inhalation treatment with budesonide and terbutaline sulfate on acute pediatric asthmatic bronchitis.

The use of oxygen-driven aerosol inhalation therapy with budesonide (suspension) and terbutaline sulfate for the treatment of pediatric asthmatic bronchitis was studied. Sixty pediatric patients diagnosed with asthmatic bronchitis in Xuzhou Children's Hospital during the period comprising April 2013 to December 2015 were enrolled in the study. After randomly dividing the patients into a control (conventional dexamethasone drip) and a treatment group (inhalation of budesonide with terbutaline sulfate) of 30 patients each, the symptoms were treated using antibiotics when necessary. The results of our evaluation showed the overall effective rate of treatment in the control group was 73.33% (40% with marked improvement, 33.33% with some improvement and 26.67% with no improvement) and that in the treatment group was 96.67% (73.73% with marked improvement, 23.33% with some improvement and only 3.33% with no improvement) with a statistically significant difference (p<0.05). The pulmonary functions of all pediatric patients showed no statistically significant differences in the pulmonary function indexes between the two groups before treatment (p>0.05). However, the differences in FEV1, FVC, FEV1/FVC and PEF between control and treatment groups before and after treatment were statistically significant (p<0.05), with overall improvement being higher in the treatment group. Finally, the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) level in patients of the two groups improved significantly after treatment (p<0.05). The ESR and CRP level in the treatment group were improved to a higher degree than those in the control group (p<0.05). There were only minor adverse reactions in two patients in the treatment group, and the overall rate of adverse reactions was not significantly different between the two groups (p>0.05). Based on our evaluation the aerosol inhalation therapy of budesonide (suspension) with terbutaline sulfate has definite curative effects and is safe to use on pediatric asthmatic bronchitis patients. The approach is superior to the conventional dexamethasone treatment and is worth studying in larger populations for recommending it widely.

Effects of salbutamol aerosol combined with magnesium sulfate on T-lymphocyte subgroup and Th1/Th2 cytokines of pediatric asthma.

The aim of the study was to analyze the effects of the intravenous infusion of salbutamol aerosol combined with magnesium sulfate in the treatment of pediatric asthma and the subsequent effects on the levels of T-lymphocyte subgroups and Th1/Th2 cytokines. A total of 86 patients with pediatric asthma, first diagnosed and treated at the Xuzhou Children's Hospital, were continuously selected and randomly divided into an observation group of 44 cases and control group of 42 cases. The patients in the control group were treated with budesonide atomization inhalation, while the children in the observation group were treated with intravenous infusion of salbutamol aerosol combined with magnesium sulfate. The therapeutic effects in the groups were compared. After treatment, the levels of serum CD3+ and CD8+ decreased when compared to before treatment; the levels of CD4+ and CD4+/CD8+ also increased, but the observation group had more significant improvement. Differences were statistically significant (P<0.05). After treatment, the levels of serum interleukin-2 (IL-2) and interferon-γ (IFN-γ) increased when compared to before, while levels of IL-4 and IL-6 decreased, and the observation group had more significant improvement. The differences were statistically significant (P<0.05). After treatment, the levels of VT, t-PTEF/t-E, MTIF/MTEF and TEF75/PTEF increased when compared to before; the observation group had more significant improvement. The differences were statistically significant (P<0.05). The effective rate and degree of treatment for the observation group were significantly higher than those of the control group and differences were statistically significant (P<0.05). The intravenous infusion of salbutamol aerosol combined with magnesium sulfate in the treatment of pediatric asthma can significantly improve therapeutic effects and lung functions, improve immune functions and relieve inflammatory reactions. Therefore, it indicates better clinical application and promotion value.

Variation in the levels of IL-6 in pediatric patients with severe bacterial infectious diseases and correlation analysis between the levels of IL-6 and procalcitonin.

The objective of the present study was to investigate variations in the levels of interleukin (IL)-6, procalcitonin (PCT), and C-reactive protein (CRP) in children with severe bacterial infectious diseases and to analyze the correlation between the levels of IL-6 and PCT to determine the value of combined diagnosis with IL-6 and PCT. We analyzed 126 patients admitted to Xuzhou Children's Hospital for treatment, who were divided into severe bacterial infection (observation group, n=65) and non-bacterial infection groups (control group, n=61). The levels of IL-6, PCT, and CRP were measured and compared between the two groups. Data from both groups were statistically analyzed. The levels of IL-6, PCT, and CRT in the observation group were significantly higher than those in the control group (P<0.01); in the observation group, the levels of IL-6 and PCT on the 5th and 10th day after treatment were significantly lower than those before treatment (P<0.01); PCT showed better value for diagnosing severe bacterial infections compared with IL-6 and CRP; there was a positive correlation between the levels of IL-6 and PCT in the observation group; and the sensitivity and specificity of combined diagnosis with IL-6 and PCT for severe bacterial infection was 93.84% and 96.72%, respectively, which were significantly higher than those for diagnosis with only IL-6 (P<0.01). In conclusion, IL-6 combined with PCT can serve as an indicator with high sensitivity for detection of severe bacterial infections in children, which is of great significance for the differential diagnosis of severe bacterial infections in the early stage.

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed. We validated the assay by using 2522 subjects affected with hemoglobinopathies and applied it to carrier testing in a cohort of 10,111 couples who were also screened through traditional methods. In the clinical genotyping analysis of 1182 ß-thalassemia subjects, we identified a group of additional variants that can be used for accurate diagnosis. In the molecular screening analysis of the 10,111 couples, we detected 4180 individuals in total who carried 4840 mutant alleles, and identified 186 couples at risk of having affected offspring. 12.1% of the pathogenic or likely pathogenic variants identified by our NGS assay, which were undetectable by traditional methods. Compared with the traditional methods, our assay identified an additional at-risk 35 couples. We describe a comprehensive NGS-based test that offers advantages over the traditional screening/molecular testing methods. To our knowledge, this is among the first large-scale population study to systematically evaluate the application of an NGS technique in carrier screening and molecular diagnosis of hemoglobinopathies.

Analysis of clinical value of CT in the diagnosis of pediatric pneumonia and mycoplasma pneumonia.

Pneumonia is an infectious disease of the lung causing mortality. Mycoplasma pneumonia (MP) is an atypical bacterial pneumonia that damages several organs. Lung computed tomography (CT) has been utilized in its identification. The aim of the present study was to examine the value of computed tomography diagnosis for pediatric MP. The present study prospectively analyzed the clinical and imaging data of 1,280 cases of pediatric MP in the out- and inpatient departments from March, 2010 to March, 2014; analyzed the morphology and distribution of the pneumonic lesion in the lungs; and summarized the value of CT diagnosis for pediatric MP. In the included children, there were 688 cases of lesions in the unilateral lobe, 592 cases of lesions in the bilateral lobes, 1,101 cases of extensive patchy opacity, 496 cases of mottled opacity, 432 cases of increased lung marking, 256 cases of streak opacity, 192 cases of ground-glass opacity, 992 cases of thickened bronchial wall in the lesions, 128 cases of lymphadenopathy in the hilar lymph nodes and mediastinal lymph nodes, and the lung CT showed 32 cases of pulmonary cavity and 144 cases of pleural effusion. In conclusion, the CT signals of pediatric MP had several types with some children exhibiting complicated changes. The child's clinical manifestation and symptoms should thus be considered in the diagnosis to improve the diagnostic rate.

Metabolic syndrome in children (Review).

Metabolic syndrome (MetS) is a cluster of cardiometabolic risk factors, including central obesity, insulin resistance, glucose intolerance, dyslipidemia and increased blood pressure. The prevalence of MetS is on the increase worldwide owing to the epidemic of overweight and obesity. The risk of prevalence of MetS greatly increases during adulthood for those children exposed to cardiometabolic risk factors in their early lives. MetS has also been associated with liver fat accumulation in children. Elevated levels of plasma alanine aminotransferase and γ-glutamyl transferase have been associated with liver fat accumulation. The present review aimed to expand knowledge on the clustering of cardiometabolic risk factors responsible for the widespread occurrence of metabolic disease in children.

Central anti-fatigue activity of verbascoside.

In this study, the effects of verbascoside on treadmill exercise endurance, 5-hydroxytryptamine (5-HT) concentrations, the second isoforms of tryptophan hydroxylase (TPH2) and serotonergic type 1B inhibitory autoreceptors (5-HT1B) protein expression in the caudate putamen of exercised rats were investigated. Sixty Sprague-Dawley male rats were randomly divided into six groups: normal group, exercise group, exercise and verbascoside (0.1mg/kg)-treated group, exercise and verbascoside (1mg/kg)-treated group, exercise and verbascoside (10mg/kg)-treated group, exercise and caffeine (10mg/kg)-treated group. In exercise groups, rats were put on treadmill and forced to run for 30min once a day for 6 consecutive days. On the 7th day of the experiment, the time to exhaustion in treadmill exercise was determined for the trained groups. Immediately after the determination of the exhaustion time, all rats were sacrificed. 5-HT concentrations were detected by HPLC analysis. TPH2 and 5-HT1B protein expression were measured by western blot analysis. We found that verbascoside could prolong the time to exhaustion in treadmill exercise and suppress the exercise-induced increase of 5-HT synthesis and TPH2 protein expression, and prevent the exercise-induced decrease of 5-HT1B protein expression in the caudate putamen. Verbascoside was found as effective as caffeine in these effects. Verbascoside at 10mg/kg improved endurance of exercised rats. The mechanism of verbascoside' s anti-fatigue activity might be related to the inhibition of the exercise-induced synthesis of 5-HT and TPH2 expression, and to the increase of the 5-HT1B expression in the caudate putamen of exercised rats.

Multicenter study on the prognosis associated with respiratory support for children with acute hypoxic respiratory failure.

The objective of the present study was to explore the factors influencing the outcomes related to respiratory support of children with acute hypoxic respiratory failure (AHRF) in 30 hospitals. This was a non-controlled prospective and collaborative multicenter clinical study conducted from June, 2010 to May, 2011 (each hospital for 12 consecutive months). Children aged from 29 days to 6 years and who met the diagnostic standards of AHRF were enrolled as subjects for the study. After patients were enrolled, general parameters including disease diagnosis, treatment and prognosis were recorded. Then we analyzed the differences in prognosis and respiratory therapy of patients with AHRF. During the study period, 13,906 cases of AHRF were admitted among the 30 hospitals, accounting for 75.3% of the total number of patients with AHRF. The proportion in different hospitals ranged from 16 to 98%. A total of 492 children with hypoxic respiratory failure were admitted among the 30 hospitals. The prevalence rate was 3.54%, and the incidence of AHRF in each hospital was 4.54%. Tidal volume and respiratory support treatment were compared with the results from a 2006 study, and the differences were statistically significant in positive end-expiratory pressure (5 vs. 4, P=0.018), fraction of inspire O2 (0.5 vs. 0.4, P<0.001), pressure of artery O2 (70 vs. 60 mmHg, P<0.001) and peak inspiratory pressure (20 vs. 24 cm H2Ο, P<0.001). In conclusion, academic background and the level of regional economic development are factors which influence the prognosis of children with AHRF. On the basis of unapparent differences between academic background and the level of regional economic development, there is a substantial difference in the prognosis from different forms of respiratory support management for AHRF. Therefore, it is essential to develop respiratory support and the level of critical management of pediatric intensive care units.

Spectrum of α-thalassemia and ß-thalassemia mutations in the Guilin Region of southern China.

BACKGROUND AND AIMS: Thalassemia is one of the most frequent hereditary hemoglobin (Hb) disorders in southern China. Accurate population frequency data are needed for planning the control of thalassemia in the high-risk Guilin, the southern region of China. METHODS: Anemia patients (n=11,143) from the Guilin Region of the Guangxi Zhuang Autonomous Region of southern China were analyzed by Gap-PCR, PCR-based reverse dot blot (RDB), and direct sequencing methods. RESULTS: Of these patients, 4365 (39.17%) were diagnosed with α-thalassemia (α-thal), 2643 (23.72%) with ß-thalassemia (ß-thal), and 263 (2.36%) as carriers of both α- and ß-thal. The diagnosed α-thal anomalies were related to 6 gene mutations and 27 genotypes, with the most common α-thal mutations being -(SEA) (61.37%), -α(3.7) (18.52%), -α(4.2) (6.80%), and α(CS)α (6.64%). The ß-thal anomalies were related to 14 gene mutations and 30 genotypes, with the seven most common mutations [CD41-42 (-TTCT) (52.02%), CD17 (A>T) (22.12%), IVS-II-654 (C>T) (11.29%), -28 (A>G) (5.01%), CD71-72 (4.04%), CD26 (2.28%), and -29 (1.83%)] accounting for 98.58% of the ß-globin gene mutations. In addition, CD37 (TGG→TAG) and CD 30 (A→G) were two particularly rare dominant ß-thal mutations in Chinese populations. CONCLUSIONS: Our data suggested that the population in Guilin are at high risk of α- and ß-thalassemia. The results of this study will be useful for genetic counseling and the prevention of severe thalassemia in the Guilin Region.

Maternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X­linked lymphoproliferative disease type 1: a case report.

X­linked lymphoproliferative disease type 1 (XLP1) is a rare genetic immunodeficiency disease, which occurs due to germline mutations in the SH2D1A gene. This gene has been reported to encode the adaptor molecule signaling lymphocytic activation molecule­associated protein XLP1 is generally triggered by the Epstein­Barr virus (EBV) infection. The present study reported the case of a 4­year­old male who presented with a high fever, hypogammaglobulinemia, diffuse lung disease and encephalitis. The patient was infected with the lymphocytic choriomeningitis virus (LCMV), not EBV or any other human herpes virus. The patient was found to carry a SH2D1A c.7G>T/p.A3S mutation, which was inherited from the mother and maternal grandfather, as well as a SH2D1A c.228T>A/p.Y76X mutation, which was identified to be a maternal­onset de novo mutation at the time of germline development of the patient's mother. To the best of our knowledge, the present study is the first reported case of maternal­onset XLP1 with a de novo SH2D1A mutation and LCMV infection.