Premature Stroke Secondary to Severe Hypertension Results from Liddle Syndrome Caused by a Novel SCNN1B Mutation.

INTRODUCTION: Liddle syndrome (LS), an autosomal dominant and inherited monogenic hypertension syndrome caused by pathogenic mutations in the epithelial sodium channel (ENaC) genes SCNN1A, SCNN1B, and SCNN1G. OBJECTIVE: This study was designed to identify a novel SCNN1B missense mutation in a Chinese family with a history of stroke, and to confirm that the identified mutation is responsible for LS in this family. METHODS: DNA samples were collected from the proband and 11 additional relatives. Next-generation sequencing was performed in the proband to find candidate variants. In order to exclude genetic polymorphism, the candidate variantin SCNN1B was verified in other family members, 100 hypertensives, and 100 healthy controls by Sanger sequencing. RESULTS: Genetic testing revealeda novel and rare heterozygous variant in SCNN1B in the proband. This variant resulted in a substitution of threonine instead of proline at codon 617, altering the PY motif of ß-ENaC. The identified mutation was only verified in 5 relatives. In silico analyses indicated that this variant was highly pathogenic. In this family, phenotypic heterogeneity was present among 6 LS patients. Tailored medicine with amiloride was effective in controlling hypertension and improving the serum potassium concentration in patients with LS. CONCLUSIONS: We identified a novel SCNN1B mutation (c.1849C>A) in a family affected by LS. Patients with LS, especially those with severe hypertension, should be alert for the occurrence of premature stroke. Timely diagnosis using genetic testing and tailored treatment with amiloride can help LS patients to avoid severe complications.

Diagnostic Utility of Interferon-Gamma Release Assay in Tuberculous Lymphadenitis.

Objective The aim of this study was to evaluate the diagnostic performance of T-SPOT.TB for tuberculous lymphadenitis. Methods Suspected tuberculous lymphadenitis patients between September 2010 and September 2018 who had both peripheral blood T-SPOT.TB test and lymph node biopsy were retrospectively enrolled in this study. The cutoff value of T-SPOT.TB test for peripheral blood was set as 24 spot forming cell (SFC)/10 6 periphreral blood monocyte cell (PBMC) according to the instruction of testing kits. The gold standard for diagnosis of TBL was the combination of microbiology results, histopathology results and patient's response to anti-TB treatment. Diagnostic efficacy of T-SPOT.TB was evaluated, including sensitivity, specificity, accuracy, predictive values, and likelihood ratio. Results Among 91 patients who met the inclusion criteria, we excluded 8 cases with incomplete clinical information and 6 cases who lost to follow-up. According to the gold standard, there were 37 cases of true TBL (9 confirmed TBL and 28 probable TBL), 30 cases of non-TBL, and 10 cases of clinically indeterminate diagnosis who were excluded from the final analyses. The T-SPOT.TB tests yielded 43 cases of positive response and 24 cases of negative response. The sensitivity, specificity, accuracy, positive predictive value (PPV), negative predictive value (NPV), positive likelihood ratio (PLR) and negative likelihood ratio (NLR) of peripheral blood T-SPOT.TB for diagnosing TBL were 89.2%, 66.7%, 79.1%, 76.7%, 83.3%, 2.68 and 0.16, respectively. The number of SFCs of T-SPOT.TB in TBL patients [432(134-1264)/10 6 PBMCs] was higher than that in non-TBL patients [0 (0-30) /10 6PBMCs] with a significant difference (Z=-5.306, P <0.001).Conclusion T-SPOT.TB is a rapid and simple diagnostic test for TBL with a high sensitivity and negative predictive value.

Survey and clinical considerations of gender identity in lower primary school children.

BACKGROUND: Gender consciousness directly affects the development of gender identity, which is a continuous and lifelong process. Meanwhile, hospitalization is a part of many children's lives and has an impact on their gender development. AIM: To investigate the current situation of gender identity in lower primary school children by conducting a survey of 202 hospitalized children in the lower grades and to provide a theoretical basis and foundation for the cultivation of gender identity and medical treatment of children based on the results. This study aims to inspire clinical medical staff to scientifically and reasonably arrange hospital wards for lower primary school children and pay attention to gender protection during the medical treatment process and to help children shape a unified and clear gender identity, which will enable them to better integrate into society and promote their personality development. METHODS: The gender consciousness scale for elementary and middle school students was used for the survey. RESULTS: Gender identity was already present in lower primary school children. The children's gender roles and gender equality consciousness were strong, exceeding the critical value, but their gender characteristics, gender identity, and gender ideal consciousness were weak. Children aged 6 had the weakest gender identity, and girls had significantly stronger gender identity than boys. CONCLUSION: Gender identity is already present in lower primary school children, providing a basis and inspiration for the cultivation of gender identity and medical treatment of lower primary school children. Clinical medical staff should be aware of and understand these results and should scientifically and reasonably arrange hospital wards for lower primary school children.

[Effects of Simulated Acid Rain and Nitrogen Deposition on Soil Bacterial Community Structure and Diversity in the Masson Pine Forest].

By analyzing the effects of acid rain and nitrogen deposition on the structure and diversity of soil bacterial communities, the response mechanism of Masson pine forests to environmental stress was investigated, providing a theoretical reference basis for resource management and conservation in Tianmu Mountain National Nature Reserve. Four treatments of the simulated acid rain and nitrogen deposition were set up in 2017 to 2021 in Tianmu Mountain National Nature Reserve (pH value of 5.5 and 0 kg·(hm2·a)-1, CK; pH value of 4.5 and 30 kg·(hm2·a)-1, T1; pH value of 3.5 and 60 kg·(hm2·a)-1, T2; pH value of 2.5 and 120 kg·(hm2·a)-1, T3). The differences in soil bacterial community composition and structure among treatments and their influencing factors were analyzed by collecting soils from four treatments, using the Illumina MiSeq PE300 second-generation high-throughput sequencing platform. The results showed that acid rain and nitrogen deposition significantly reduced soil bacterial α-diversity (P<0.05) in a Masson pine forest. The Masson pine forest soils consisted of 36 phylum groups of mycota, with Acidobacteria, Proteobacteria, Actinobacteria, and Chloroflexi as the main bacterial phyla (relative abundance>1%) in the Masson pine forest soils. Flavobacterium, Nitrospira, Haliangium, Candidatus_Koribacter, Bryobacter, Occallatibacter, Acidipla, Singulisphaera, Pajaroellobacter, and Acidothermus, which showed significant changes in relative abundance under the four treatments, could be used as indicator species for changes in soil bacterial communities under acid rain and nitrogen deposition stress. Soil pH and total nitrogen were influential factors in the diversity of soil bacterial communities. As a result, acid rain and nitrogen deposition increased the potential ecological risk, and the loss of microbial diversity will change the ecosystem function as well as reduce the stability of the ecosystem.

[Effects of Simulated Acid Rain on Soil Fungi Diversity in the Transition Zone of Moso Bamboo and Broadleaf Forest].

Acid rain is an important phenomenon in the context of global climate change, and can strongly influence forest ecology. There have been many studies on the response of plants to acid rain. However, the effect of acid rain on soil microbial communities is still largely unknown. Studying the effects of acid rain on soil microbial community structure is of great significance for predicting the interactive effects of multiple climate factors on forest ecosystems in the future. Moso bamboo (Phyllostachys edulis) is often cultivated not only for its delicious shoots and versatile culms, but also as an important biomass resource in southern China. However, with its robust growth and strong rhizomes, Moso bamboo populations have been expanding rapidly into adjacent forests. Different perturbation regimes, including disturbance caused by simulated acid rain, can have significant effects on a soil fungal community in response to Moso bamboo invasion into native broadleaf forest. To explore the effect of acid rain on a mixed forest of Moso bamboo and broadleaf soil fungi diversity, and to understand the relationship between fungal community structure and acid rain stress, a mixed forest of Moso bamboo and broadleaf (transition forest) in Zhejiang Tianmu Mountain Nature Reserve was taken as the study site, and simulated acid rain was set at different acidity according to the acid rain component of Linan in recent years. The experiment consisted of three different treatments. Three gradients of simulated acid rain treatment[pH 2.5, 4.0, and CK (lake water)] were designed to determine the effects of simulated acid rain on soil bacterial community diversity in transition forest. Soil DNA was extracted from the soils for polymerase chain reaction amplification and high-throughput sequencing to study the effects of acid rain on the fungal communities of the mixed forest of Moso bamboo and broadleaf soil. We obtained 601 287 sequences across the three types of sampling sites. Sequences were affiliated to 13 different phyla throughout the dataset. The dominant fungal groups were Ascomycota, Basidiomycota, Mortierellomycota, and Mucoromycota. Simulated acid significantly increased the number of operational taxonomic units, Ace index, and Chao1 index of fungal communities (P<0.05). The results of principal coordinates analysis (PCoA) also revealed that acid rain significantly modified the structure. The changes in soil fungal community structure were mainly related to the abundance of genera Bifiguratu, Geminibasidium, Purpureocillium, and Oidiodendron, which could be utilized as indicator species to determine changes in soil fungal community structure. Redundancy and correlation analysis showed that changes in basic physicochemical factors in the soil, such as soil pH and total nitrogen, can significantly influence the composition of the fungal community (P<0.05).

Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension.

BACKGROUND: Liddle syndrome (LS), an autosomal dominant disorder, is a common monogenic hypertension in pediatrics. In this study, we reported a novel SCNN1G variant in a Chinese family with pediatric LS, and conduct a systematic review of epithelial sodium channel (ENaC)-gene-positive LS cases to conclude the clinical genetic features of LS in childhood. METHODS: Next-generation sequencing and in silico analysis were performed in the proband to discover candidate variants. Sanger sequencing was used to identify the predicted likely pathogenic variant. LS patients in this family were treated with amiloride. The Medline database was searched to summarize clinical features of pediatric LS cases whose age at genetic diagnosis was not more than 18 years. RESULTS: Genetic analysis identified a novel SCNN1G missense variant (c.1874C>T, p.Pro625Leu) in the proband with LS in childhood. In silico analysis revealed this heterozygous variant was highly conserved and deleterious. A total of 38 publications described pediatric LS associated with 25 pathogenic variants in SCNN1B and SCNN1G in 54 children. Despite the phenotypic heterogeneity, early-onset hypertension is the most common feature. All LS patients in this family or the reviewed cases showed significantly improvements in hypertension and hypokalemia after treatment with ENaC inhibitors. CONCLUSIONS: This study identified a novel SCNN1G missense variant in a patient with pediatric LS, expanding the genetic spectrum of SCNN1G and demonstrating the PY motif of γ-ENaC as a potential mutant region. Early identification and specific management of LS in children and adolescents are important to prevent the development of hypertensive end-organ disease.