1.Analysis of individual external radiation dose monitoring results in non-medical nuclear utilization units in Nanning City, China
Wei ZHANG ; Libo JIA ; Tanchun XIE ; Qing CHANG ; Qiqi HUANG
Chinese Journal of Radiological Health 2026;35(1):97-102
Objective To evaluate the levels and changes in occupational individual external radiation dose in non-medical nuclear utilization units in Nanning City, and to provide a basis for radiation protection in such units. Methods Thermoluminescent dosimeters were used to monitor individual radiation doses among radiation workers in 38 non-medical nuclear utilization units in Nanning City. The results were subjected to statistical analysis. Results From 2021 to 2023, a total of
2.Safety of endoscopic variceal ligation and endoscopic cyanoacrylate injection in treatment of esophagogastric varices in patients with liver cirrhosis and influencing factors for postoperative bleeding
Luyao JIA ; Baoying CAO ; Chunming HUANG ; Biao XIE ; Hongbo GAO ; Chuo LI ; Qinghua HUANG
Journal of Clinical Hepatology 2026;42(2):356-361
ObjectiveTo investigate the risk factors for bleeding within 5 days and 2 weeks after endoscopic variceal ligation (EVL) or endoscopic cyanoacrylate injection (ECI) for the treatment of esophagogastric varices in patients with liver cirrhosis, as well as the safety of EVL/ECI in patients with thrombocytopenia. MethodsA total of 489 patients with liver cirrhosis and esophagogastric varices who underwent EVL/ECI in Guangzhou Eighth People’s Hospital, Guangzhou Medical University, from January 2018 to December 2023 were enrolled as subjects, and according to the presence or absence of bleeding after surgery, they were divided into bleeding group and non-bleeding group. The risk factors for bleeding within 5 days and 2 weeks after surgery were analyzed. The independent-samples t test or the Mann-Whitney U test was used for comparison of continuous data between groups, and the chi-square test or the continuity-corrected chi-square test was used for comparison of categorical data between groups; the receiver operating characteristic (ROC) curve was plotted to determine the cut-off value of MELD score; a multivariate logistic regression analysis was used to identify the independent risk factors for postoperative bleeding. ResultsThere were no significant differences in the bleeding rates within 5 days and 2 weeks after EVL/ECI between the 386 patients with a platelet count of ≥50×109/L and the 103 patients with a platelet count of (25 — 49)×109/L (5 days: 1.94% vs 2.85%, P=0.870; 2 weeks: 2.91% vs 4.92%, P=0.544). The overall bleeding rate was 2.66% (13/489) and 4.50% (22/489), respectively, within 5 days and 2 weeks after EVL/ECI. The multivariate logistic regression analysis showed that MELD score was an independent risk factor for bleeding within 5 days (odds ratio [OR]=3.726, 95% confidence interval [CI]: 1.214 — 11.429, P=0.021) and 2 weeks (OR=5.760, 95%CI: 1.779 — 18.651, P=0.003) after EVL/ECI, while hemoglobin (Hb) was a protective factor against bleeding within 5 days (OR=0.972, 95%CI: 0.948 — 0.996, P=0.025) and 2 weeks (OR=0.976, 95%CI: 0.957 — 0.995, P=0.016) after surgery; portal vein tumor thrombus (OR=2.667, 95%CI: 1.000 — 7.117, P=0.050) was an independent risk factor for bleeding within 2 weeks after surgery, while platelet count [(25 — 49)×10⁹/L] was not a risk factor for postoperative bleeding (P>0.05). ConclusionBoth EVL and ECI have good safety in patients with liver diseases and grade 3 thrombocytopenia. MELD score is an independent risk factor for bleeding within 5 days and 2 weeks after EVL/ECI, while Hb is a protective factor; portal vein tumor thrombus is an independent risk factor for bleeding within 2 weeks after surgery.
3.Three-dimensional Electrical Impedance Tomography for Monitoring Gastric Hemorrhage
Zi-Han ZHAO ; Bo SUN ; Jing-Shi HUANG ; Zhi-Wei LI ; Yang WU ; Nan LI ; Jia-Feng YAO ; Tong ZHAO
Progress in Biochemistry and Biophysics 2026;53(4):1062-1075
ObjectiveGastric hemorrhage is one of the most common and life-threatening emergencies of the upper digestive tract. Early identification and continuous monitoring are essential for reducing rebleeding rates and mortality, particularly within the critical early hours after onset. Although endoscopy and radiological imaging can accurately localize bleeding sites, these approaches are invasive, resource-intensive, and unsuitable for continuous bedside monitoring. Electrical impedance tomography (EIT), as a noninvasive and radiation-free functional imaging technique, offers real-time visualization of conductivity distribution and has the potential for detecting intragastric bleeding based on the electrical contrast between blood and surrounding gastric tissues. In this study, a three-dimensional gastric EIT (3D-gEIT) framework is proposed to achieve noninvasive, real-time, and dynamic monitoring of gastric hemorrhage, with emphasis on spatial localization and quantitative volume assessment. MethodsA three-dimensional upper-abdominal simulation model incorporating the stomach, gastric wall, gastric contents, and surrounding tissues was established. Three electrode configurations, namely the dual layer ring, the four layer staggered ring, and the opposed dual plane array, were designed and systematically compared to evaluate their influence on depth sensitivity and spatial resolution. Based on the Tikhonov-Noser hybrid regularization scheme, a region-clustering constraint was introduced to develop the TK-Noser-RCC algorithm. This approach aggregates spatially adjacent elements with similar conductivity variations, thereby enhancing structural continuity and suppressing isolated noise artifacts. To validate the proposed framework, an upper-abdominal physical phantom was constructed using agar to simulate background tissue conductivity. Hemispherical high-conductivity inclusions with volumes ranging from 10 ml to 50 ml were attached to the inner gastric wall to mimic localized bleeding under different gastric filling states. Boundary voltages were acquired under a 120 kHz excitation current and reconstructed using the TK-Noser-RCC algorithm. Furthermore, an in vivo animal experiment was performed using a porcine model with adult-scale abdominal dimensions. A total of 100 ml of autologous blood was injected incrementally into the stomach to simulate progressive gastric hemorrhage, and time-difference EIT reconstruction was conducted at each injection stage to assess the dynamic system response under physiological conditions. ResultsSimulation results demonstrated that the opposed dual-plane electrode array achieved superior depth sensitivity distribution and spatial resolution. For a 40 ml hemorrhage model, the average ICC and SSIM improved by 55.9% and 38.8% compared with the dual-layer ring configuration, and by 64.0% and 39.5% compared with the four-layer staggered configuration. The proposed region-clustering constraint significantly enhanced reconstruction stability. Under added Gaussian noise of 40 dB and 30 dB, ICC values remained approximately 0.85, indicating effective artifact suppression and preservation of boundary integrity. In physical phantom experiments, reconstructed hemorrhage volumes increased approximately linearly with the preset hemispherical volumes, and the reconstructed high-conductivity regions closely matched the actual bleeding locations. Both empty-stomach and full-stomach conditions were evaluated, demonstrating that the opposed dual-plane configuration maintained stable imaging performance across varying gastric contents. In the animal experiment, reconstructed low-impedance regions expanded progressively with increasing injected blood volume. The spatial localization of the hemorrhage remained stable throughout the procedure, and no significant artifacts were observed. Quantitative analysis showed that reconstructed volume and average conductivity variation exhibited an approximately linear growth trend with injected blood volume, confirming the sensitivity of the system to dynamic intragastric conductivity changes. ConclusionThe proposed 3D-gEIT framework enables quantitative reconstruction of gastric hemorrhage volume and spatial distribution with improved depth sensitivity, structural continuity, and noise robustness compared with conventional EIT approaches. By integrating optimized electrode configuration and a region-clustering-constrained reconstruction algorithm, the system provides stable dynamic monitoring under both controlled phantom conditions and in vivo physiological environments. This method offers a noninvasive, real-time, and low-cost imaging strategy for early diagnosis, postoperative monitoring, and bedside surveillance of gastric bleeding.
4.Compact Fundus Imaging System Using Shack-Hartmann Wavefront Sensing for High-speed Auto-focus
Zhe-Kai LIN ; Long CHEN ; Geng-Yong ZHENG ; Jin-Tian HUANG ; Jia-Xin DONG ; Shang-Pan YANG ; Wen-Zheng DING ; Ding-An HAN ; Xue-Hua WANG ; Ya-Guang ZENG
Progress in Biochemistry and Biophysics 2026;53(4):1076-1086
ObjectiveThe widespread adoption of portable fundus cameras for primary care and community screening is hindered by limitations in current autofocus(AF) technologies. Image-based methods relying on sharpness evaluation require iterative searches, resulting in slow convergence, while projection-based techniques are susceptible to optical artifacts and calibration errors. To address these challenges, this study introduces a novel AF system based on direct wavefront sensing, designed to deliver simultaneous high speed, high precision, and operational robustness within the compact form factor essential for portable ophthalmic devices. MethodsOur approach fundamentally reimagines the AF process by directly measuring the ocular wavefront aberration. We developed a custom portable fundus camera integrating a miniaturized Shack-Hartmann wavefront sensor (SHWS) into the optical path. An 850 nm laser diode projects a point source onto the retina via oblique illumination to minimize corneal reflections. Light scattered from this spot carries the eye’s refractive error through the imaging optics and is directed to the SHWS, positioned at a plane optically conjugate to the primary color CMOS imaging sensor. A microlens array within the SHWS samples the incident wavefront, generating a pattern of focal spots on a CCD. Real-time centroid analysis of these spots provides a map of local wavefront slopes. These measurements are processed through a singular value decomposition (SVD) algorithm to fit a Zernike polynomial basis set, enabling real-time reconstruction of the wavefront phase. The defocus component (S) is extracted from the second-order Zernike coefficients, providing a direct, quantitative measure of the refractive error in diopters. This value serves as a precise error signal in a closed-loop control system, which commands a voice-coil actuated focusing lens to its null position in a single, deterministic step, eliminating the need for iterative search algorithms. ResultsComprehensive evaluation demonstrated the system’s high performance. Testing on a calibrated model eye (OEMI-7) established a highly linear relationship between the computed defocus S and the focusing lens position across a ±20 Diopter (D) compensation range, achievable within a 5 mm mechanical travel. The system achieved a focusing precision of 0.08 D, corresponding to an 18-fold improvement over a conventional projection spot-size method tested under identical conditions. The total focus acquisition time, encompassing wavefront measurement, computation, and lens actuation, averaged under 0.5 s. Clinical validation with 25 human volunteers (50 eyes, refractive range -15 D to +10 D) confirmed practical efficacy. The wavefront-sensing AF succeeded in 92% of attempts with a mean time of 0.5 s, substantially outperforming a projection-based benchmark which achieved only a 32% success rate with an average time of 4.25 s. The system provided instantaneous directional guidance and maintained stability during minor ocular movements. Objective assessment of image quality, via amplitude contrast of retinal vasculature, showed consistent and significant enhancement following AF correction across the entire tested diopter range. ConclusionThis work successfully implements and validates a direct wavefront-sensing autofocus paradigm for portable fundus cameras. By directly quantifying and compensating for the optical defocus aberration, this method bypasses the fundamental limitations of image-processing and projection-based techniques, enabling rapid, precise, and deterministic diopter compensation. The developed system delivers an exceptional combination of a wide operational range (±20 D), high accuracy (0.08 D), fast convergence (0.5 s), and a compact physical footprint. This technology provides a practical and high-performance focusing solution capable of enhancing the reliability, throughput, and diagnostic utility of portable retinal imaging in large-scale screening applications. Future efforts will be directed towards system cost optimization and performance adaptation for diverse ocular conditions.
5.Correlation of childhood trauma and leisure activities with psychological distress among upper grade elemetary school students
Chinese Journal of School Health 2026;47(1):70-74
Objective:
To understand the impact of childhood trauma on psychological distress among upper grade elemetary school students, and to explore the mediating role of leisure activities in the relationship, so as to provide a basis for developing mental health intervention strategies.
Methods:
From August to November 2024, a combination of convenience sampling and stratified cluster random sampling was employed to recruit 1 373 fourth to sixth grade students from four primary schools in Harbin. The Childhood Trauma Questionnaire(CTQ), a self designed leisure activity scale (including active and passive leisure activities), and the Kessler Psychological Distress Scale (K10) were used to assess childhood trauma experiences, leisure activities, and levels of psychological distress. Spearman correlation analysis and linear regression analysis were conducted to explore the relationships among childhood trauma, leisure types, leisure time, and psychological distress. Based on the mediation analysis framework proposed by Hayes (Model 4), the mediating role of leisure types in the relationship between childhood trauma and psychological distress was examined.
Results:
Totally 19.1% of the upper elemetary school students exhibited psychological distress, while 30.2% had experienced childhood trauma. During school days, 64.6% of the students were reported of having leisure time concentrated between 1 and 5 hours per day, whereas 67.4% reported leisure time exceeding 5 hours per day on weekends. After controlling for potential demographic confounders such as gender, grade, ethnicity, household registration, being an only child, parents educational level, co residence, and whether parents are first time married,linear regression analysis showed that childhood trauma experience had positive predictive effect on psychological distress in upper primary school students( β =0.20, P <0.01). Leisure time showed no statistically significant association with psychological distress, both on school days ( β =-0.58 to -0.56) and weekends ( β =0.26- 0.98 )(all P >0.05). Active leisure activities were negatively associated with psychological distress ( β =-0.20), while passive leisure activities were positively associated with psychological distress ( β =0.29)(both P <0.01). Leisure type partially mediated the relationship between childhood trauma and psychological distress, accounting for 11.7% of the indirect effect.
Conclusion
Childhood trauma experiences positively predict psychological distress in upper elementary school students, and affect psychological distress through active leisure and passive leisure.
6.Comparative analysis of the correlation between different intestinal ultrasound score and endoscopic disease activity in Crohn's disease
Shijie SUN ; Meizheng DANG ; Jia LI ; Dantong ZHAO ; Yameng ZHENG ; Piyu LI ; Pintong HUANG
Chinese Journal of Ultrasonography 2025;34(2):167-172
Objective:To verify and compare the correlation and diagnostic efficacy of international bowel ultrasound segmental activity score(IBUS-SAS),bowel ultrasound score(BUSS),simple ultrasound score for Crohn's disease(SUS-CD),and simple ultrasound score(Simple-US)with endoscopic disease activity in Crohn's disease(CD)patients. To provide external validation of the diagnostic efficacy of intestinal ultrasound(IUS)score and theoretical basis for clinical selection of optimal IUS score.Methods:A total of 160 patients with clinical diagnosis of CD combined with IUS and intestinal endoscopy were retrospectively analyzed in the Second Affiliated Hospital of Zhejiang University School of Medicine from January 2022 to August 2024. IUS parameters were measured and scored with IBUS-SAS,SUS-CD,BUSS and Simple-US scores. Endoscopic SES-CD was used to evaluate intestinal disease activity in patients without history of intestinal resection,and Rutgeerts score was used to evaluate intestinal disease activity in patients with history of intestinal resection. Endoscopic remission in patients with CD was defined as SES-CD < 3 or Rutgeerts score i0 and i1,mild endoscopic disease activity was defined as 7 > SES-CD≥3 or Rutgeerts score = 2,moderate endoscopic disease activity was defined as 15 > SES-CD≥7 or Rutgeerts score i3,severe endoscopic disease activity was defined as SES-CD≥15 or Rutgeerts i4. The correlation and diagnostic efficacy of IBUS-SAS,SUS-CD,BUSS and Simple-US scores with endoscopic disease activity in patients with CD were compared and analyzed.Results:IUS scores including IBUS-SAS,SUS-CD,BUSS and Simple-US were significantly correlated with endoscopic intestinal disease activity,SES-CD and Rutgeerts scores in CD patients( r s = 0.706,0.492,0.502,0.526;0.825,0.581,0.584,0.603;0.541,0.434,0.437,0.467;all P<0.05). Among them,IBUS-SAS showed better correlation than the other three IUS scores. ROC curve showed that IBUS-SAS,SUS-CD,BUSS,and Simple-US had high predictive values for endoscopic disease activity and endoscopic disease moderate-severe activity in patients with CD(AUC = 0.886,0.748,0.730,0.756;all P<0.05). The diagnostic efficacy of IBUS-SAS on the presence of endoscopic disease activity in patients with CD was significantly higher than those of the other three IUS scores . Conclusions:IBUS-SAS,SUS-CD,BUSS and Simple-US are significantly correlated with the endoscopic results of on intestinal disease activity of CD,and have high predictive values for intestinal disease activity status,among which IBUS-SAS is superior to the other three IUS scores. It is recommended that IBUS-SAS be used first to evaluate intestinal disease activity in patients with CD.
7.Discovery of E0199:A novel compound targeting both peripheral Nav and Kv7 channels to alleviate neuropathic pain
Boxuan ZHANG ; Xiaoxing SHI ; Xingang LIU ; Yan LIU ; Xuedong LI ; Qi WANG ; Dongyang HUANG ; Weidong ZHAO ; Junru CUI ; Yawen CAO ; Xu CHAI ; Jiahao WANG ; Yang ZHANG ; Xiangyu WANG ; Qingzhong JIA
Journal of Pharmaceutical Analysis 2025;15(1):244-261
This research study focuses on addressing the limitations of current neuropathic pain(NP)treatments by developing a novel dual-target modulator,E0199,targeting both Nav1.7,Nay1.8,and Nay1.9 and Kv7 channels,a crucial regulator in controlling NP symptoms.The objective of the study was to synthesize a compound capable of modulating these channels to alleviate NP.Through an experimental design involving both in vitro and in vivo methods,E0199 was tested for its efficacy on ion channels and its therapeutic potential in a chronic constriction injury(CCI)mouse model.The results demonstrated that E0199 significantly inhibited Nav1.7,Nav1.8,and Nav1.9 channels with a particularly low half maximal inhibitory concentration(ICs0)for Nay1.9 by promoting sodium channel inactivation,and also effectively increased Kv7.2/73,Kv7.2,and Kv7.5 channels,excluding Kv7.1 by promoting potassium channel acti-vation.This dual action significantly reduced the excitability of dorsal root ganglion neurons and alle-viated pain hypersensitivity in mice at low doses,indicating a potent analgesic effect without affecting heart and skeletal muscle ion channels critically.The safety of E0199 was supported by neurobehavioral evaluations.Conclusively,E0199 represents a ground-breaking approach in NP treatment,showcasing the potential of dual-target small-molecule compounds in providing a more effective and safe thera-peutic option for NP.This study introduces a promising direction for the future development of NP therapeutics.
8.Machine learning-assisted microfluidic approach for broad-spectrum liposome size control
Yujie JIA ; Xiao LIANG ; Li ZHANG ; Jun ZHANG ; Hajra ZAFAR ; Shan HUANG ; Yi SHI ; Jian CHEN ; Qi SHEN
Journal of Pharmaceutical Analysis 2025;15(6):1238-1248
Liposomes serve as critical carriers for drugs and vaccines,with their biological effects influenced by their size.The microfluidic method,renowned for its precise control,reproducibility,and scalability,has been widely employed for liposome preparation.Although some studies have explored factors affecting liposomal size in microfluidic processes,most focus on small-sized liposomes,predominantly through experimental data analysis.However,the production of larger liposomes,which are equally significant,remains underexplored.In this work,we thoroughly investigate multiple variables influencing liposome size during microfluidic preparation and develop a machine learning(ML)model capable of accurately predicting liposomal size.Experimental validation was conducted using a staggered herringbone micromixer(SHM)chip.Our findings reveal that most investigated variables significantly influence liposomal size,often interrelating in complex ways.We evaluated the predictive performance of several widely-used ML algorithms,including ensemble methods,through cross-validation(CV)for both lipo-some size and polydispersity index(PDI).A standalone dataset was experimentally validated to assess the accuracy of the ML predictions,with results indicating that ensemble algorithms provided the most reliable predictions.Specifically,gradient boosting was selected for size prediction,while random forest was employed for PDI prediction.We successfully produced uniform large(600 nm)and small(100 nm)liposomes using the optimised experimental conditions derived from the ML models.In conclusion,this study presents a robust methodology that enables precise control over liposome size distribution,of-fering valuable insights for medicinal research applications.
9.Clinical and genetic analysis of six children with RARS2-related pontocerebellar hypoplasia.
Xiaoli ZHANG ; Mengyue WANG ; Jialin LI ; Yichao MA ; Junling WANG ; Xiaoli LI ; Rui HAN ; Dan XU ; Shuang JIN ; Tianming JIA ; Shujin LI ; Xianjie HUANG ; Yueqin LI
Chinese Journal of Medical Genetics 2025;42(9):1096-1105
OBJECTIVE:
To analyze the clinical characteristics and genotypic changes of six children with RARS2 gene variants.
METHODS:
The clinical data of 6 children with RARS2 gene variants diagnosed at the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2024 were collected. Genetic variants were detected using trio-whole exome sequencing. Genomic DNA was extracted from samples and subjected to high-throughput sequencing. Variants were detected and analyzed using relevant databases and software. Pathogenic variants were validated by Sanger sequencing. The protein structure encoded by a previously unreported variant was predicted using a SWISS-MODEL online server. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-373-01).
RESULTS:
Among the six children, four were males and two were females, with the most recent follow-up age ranging from 1-year-and-1-month to 7 years old. The age of onset was under 1 year in all cases. All six children exhibited seizures, including infantile spasms in three, spasms and tonic spasms in one, and focal seizures in two. One child became seizure-free for 4 ~ 5 years following Valproic acid combined with topiramate and adrenocorticotropic hormone (ACTH) pulse therapy, but subsequently experienced a relapse. Another child has remained seizure-free for nearly one year with oral sodium valproate, levetiracetam, and a "cocktail" therapy. Seizures were not controlled in the remaining four children. Pontocerebellar hypoplasia was observed on neuroimaging in two children. All six patients exhibited severe psychomotor retardation. A total of 10 RARS2 gene variants were identified, three of which were previously unreported.
CONCLUSION
The predominant clinical features of Pontocerebellar hypoplasia associated with RARS2 gene variants include infantile onset, severe psychomotor retardation or regression, drug-resistant epilepsy, and feeding difficulties. The characteristic neuroimaging finding is pontocerebellar hypoplasia. However, its appearance may vary widely with time. The majority of affected children have a poor prognosis.
Humans
;
Male
;
Female
;
Child, Preschool
;
Infant
;
Child
;
Olivopontocerebellar Atrophies/genetics*
;
Arginine-tRNA Ligase/genetics*
;
Mutation
;
Cerebellar Diseases
10.Pathogenicity analysis and genetic counseling for a hemizygous c.1042-10G>C variant of SLC9A7 gene.
Jingyuan WANG ; Jia HUANG ; Hongjie ZHU ; Lingxiao ZHOU ; Heng YANG ; Wenjie YANG ; Shuai CHEN ; Hongyan LIU
Chinese Journal of Medical Genetics 2025;42(10):1177-1182
OBJECTIVE:
To evaluate the clinical significance of a hemizygous c.1042-10G>C variant of the SLC9A7 gene NM_001257291.2) previously identified in individuals with neurodevelopmental disorders, and to provide an evidence-based guidance for prenatal genetic counseling.
METHODS:
Four families presented at the Medical Genetics Center of Henan Provincial People's Hospital between December 2022 and July 2024 were included in this study. Phenotypic information and biological samples were collected from family members. Genomic DNA was extracted and subjected to whole-exome sequencing and copy number variation analysis to identify candidate pathogenic variants. Sanger sequencing was performed for familial co-segregation analysis. Reverse-transcription PCR was used to assess the RNA splicing pattern of the variant in peripheral blood samples. Quantitative PCR was employed to analyze the expression profiles of various SLC9A7 transcripts in fetal brain tissue and peripheral blood samples. Pathogenicity of the variant was classified based on guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Henan Provincial People's Hospital (Ethics No.: 2021-171).
RESULTS:
Six hemizygous males carrying the SLC9A7 c.1042-10G>C variant were identified among the four families, which included three adult males and two male infants with normal phenotypes. Only one affected male from family 3 exhibited global developmental delay, short neck, webbed neck, ocular dysplasia, and congenital corneal leukoma. He also had a history of perinatal asphyxia and carried an additional hemizygous variant HUWE1 c.12283C>G. Reverse-transcription PCR showed no aberrant splicing in heterozygous or hemizygous carriers compared to healthy controls, suggesting that the variant does not affect RNA splicing. Quantitative PCR revealed that NM_001257291.2 is the predominant transcript expressed in fetal brain tissue and peripheral blood.
CONCLUSION
The SLC9A7 c.1042-10G>C variant does not alter RNA splicing and is present in multiple phenotypically normal males, which supported its classification as a benign variant.
Humans
;
Male
;
Female
;
Genetic Counseling
;
Pedigree
;
Adult
;
DNA Copy Number Variations/genetics*
;
Sodium-Hydrogen Exchangers/genetics*
;
Exome Sequencing


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