Neuroblastoma with superficial soft tissue mass as the first symptom: case reports with atypical ultrasonic image and literature review.

Neuroblastoma is one of the most common tumors in children. Cases where an isolated soft-tissue metastasis mass is the initial symptom are rare, with only four such cases reported to date. We describe the imaging findings of ten cases of neuroblastoma patients in our hospital with superficial soft tissue mass (SSTM) as the primary symptom. The main ultrasound finding of SSTM was hypoechoic masses or scattered speck-like hyperechoic masses. However, when this type of SSTM is caused by soft tissue metastasis, the location is often atypical, and ultrasound findings are difficult to distinguish from other benign diseases. Therefore, this research should remind clinicians to recognize atypical presentations of this common childhood malignant tumor. Radiologists should also consider the possibility of neuroblastoma when finding this type of SSTM with atypical ultrasound features.

A Retrospective Analysis of the Therapeutic Outcomes of 117 Neuroblastoma Patients Treated at a Single Pediatric Oncology Center in China.

OBJECTIVE: Recent therapeutic advances have greatly enhanced the survival rates of patients with neuroblastoma (NB). However, the outcomes of neuroblastoma patients in China, particularly those with high-risk (HR) NB, remain limited. METHOD: We retrospectively analyzed the clinical data and outcomes of NB patients who were treated at a tertiary pediatric cancer facility in China between January 2013 and October 2021. RESULTS: A total of 117 NB patients were recruited. Patients with very low-risk (VLR), low-risk (LR), intermediate-risk (IR), and HR-NB patients made up 4%, 27%, 15%, and 54% of total patient population, respectively. Patients diagnosed between 2013 and 2018 were treated according to the protocol of Sun Yat-Sen University Cancer Center and those diagnosed between 2019 and 2021 were treated according to the COG ANBL0531 or ANBL0532 protocol with or without autologous stem cell transplantation (ASCT). The 5-year EFS and OS of all risk groups of patients were 67.29% and 77.90%, respectively. EFS and OS were significantly decreased in patients with higher risk classifications (EFS: VLR/LR vs IR vs HR: 97.22% vs 67.28% vs 51.83%; ***P = .001; OS: VLR/LR vs IR vs HR: 97.06% vs 94.12% vs 64.38%; *P = .046). In HR-NB patients treated according to the COG protocol between 2019 and 2021, the 3-year OS of patients who received tandem ASCT was significantly greater than those who did not receive ASCT (93.33% % vs 47.41%; *P = .046; log-rank test). EFS was not significantly different between patients with and without ASCT (72.16% vs 60.32%). CONCLUSION: Our findings show that patients with lower risk classification have a positive prognosis for survival. The prognosis of patients with HR-NB remains in need of improvement. ASCT may enhance OS in HR-NB patients; however, protocol adjustment may be necessary to increase EFS in these patients.

[Establishment and Analysis of Risk Prediction Model for Metabolic Dysfunction-Associated Fatty Liver Disease in Physical Examination Population].

Objective: To analyze the risk factors of metabolic dysfunction-associated fatty liver disease (MAFLD) in the physical examination population, to establish a risk prediction model for the occurrence of MAFLD, and to provide management strategies for the prevention and occurrence of the disease. Methods: A total of 14664 people who underwent physical examination at the Physical Examination Center, West China Hospital, Sichuan University between January 2018 and December 2021 were selected as research subjects. The subjects were divided into a MAFLD group ( n=4013) and a non-MAFLD group ( n=10651) according to whether they had MAFLD. The differences in biochemical indices, for example, glycolipid metabolism levels, were compared and logistic regression was conducted to analyze the risk factors for MAFLD, thereby establishing a nomogram prediction model. The prediction effect of the model was validated and evaluated with the consistency index (C-index) and the calibration curve. Results: Among the 14664 subjects who underwent physical examination, 4013 were MAFLD patients, presenting an overall prevalence of 27.37%, with significantly higher prevalence in men than that in women (38.99% vs. 10.06%, P<0.001). Compared with those of the non-MAFLD group, the levels of glucose (GLU), total cholesterol (TC), triglyceride (TG), low density lipoprotein cholesterol (LDL-C), aspartate transaminase (AST), alanine transaminase (ALT), gamma-glutamyl transpeptidase (GGT) and uric acid (UA) were increased ( P<0.05), while the high density lipoprotein cholesterol (HDL-C) level was decreased ( P<0.05) in the MAFLD group. The results of logistic regression analysis showed that male sex, age, body mass index, GLU, TG and hypertension were all independent risk factors of MAFLD, while HDL-C was a protective factor of MAFLD. The risk factors were used to establish a nomogram risk prediction model and the C-index and calibration curve showed that the nomogram model produced good predictive performance. The receiver operating characteristic (ROC) curve showed that the nomogram model had good predictive value for the risk of MAFLD. Conclusion: We found a relatively high prevalence of MAFLD in the physical examination population, and the nomogram model established with routine physical examination screening can provide indications for the clinical screening and analysis of high-risk patients, which has an early warning effect on the high-risk population.

Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature.

BACKGROUND: Neurofibromatosis Type 1 (NF1) is a rare genetic disorder characterized with the development of multiple benign tumors on the nerves and skin. CASE PRESENTATION: This report described a neonatal case with a large mass observed on the left side of the maxillofacial and cervical region at birth. Meantime, multiple cafe-au-lait macules (CALMs) were seen on the trunk and both lower extremities. CONCLUSIONS: In this case, the clinical features of the rare NF1 neonate are discussed along with its ultrasound findings.

Artificial Intelligence-Assisted Ultrasound Diagnosis on Infant Developmental Dysplasia of the Hip Under Constrained Computational Resources.

OBJECTIVES: Ultrasound (US) is important for diagnosing infant developmental dysplasia of the hip (DDH). However, the accuracy of the diagnosis depends heavily on expertise. We aimed to develop a novel automatic system (DDHnet) for accurate, fast, and robust diagnosis of DDH. METHODS: An automatic system, DDHnet, was proposed to diagnose DDH by analyzing static ultrasound images. A five-fold cross-validation experiment was conducted using a dataset containing 881 patients to verify the performance of DDHnet. In addition, a blind test was conducted on 209 patients (158 normal and 51 abnormal cases). The feasibility and performance of DDHnet were investigated by embedding it into ultrasound machines at low computational cost. RESULTS: DDHnet obtained reliable measurements and accurate diagnosis predictions. It reported an intra-class correlation coefficient (ICC) on α angle of 0.96 (95% CI: 0.93-0.97), ß angle of 0.97 (95% CI: 0.95-0.98), FHC of 0.98 (95% CI: 0.96-0.99) and PFD of 0.94 (95% CI: 0.90-0.96) in abnormal cases. DDHnet achieved a sensitivity of 90.56%, specificity of 100%, accuracy of 98.64%, positive predictive value (PPV) of 100%, and negative predictive value (NPV) of 98.44% for the diagnosis of DDH. For the measurement task on the US device, DDHnet took only 1.1 seconds to operate and complete, whereas the experienced senior expert required an average 41.4 seconds. CONCLUSIONS: The proposed DDHnet demonstrate state-of-the-art performance for all four indicators of DDH diagnosis. Fast and highly accurate DDH diagnosis is achievable through DDHnet, and is accessible under constrained computational resources.

Neuroblastoma with superficial soft tissue mass as the first symptom: case reports with atypical ultrasonic image and literature review

Neuroblastoma is one of the most common tumors in children. Cases where an isolated soft-tissue metastasis mass is the initial symptom are rare, with only four such cases reported to date. We describe the imaging findings of ten cases of neuroblastoma patients in our hospital with superficial soft tissue mass (SSTM) as the primary symptom. The main ultrasound finding of SSTM was hypoechoic masses or scattered speck-like hyperechoic masses. However, when this type of SSTM is caused by soft tissue metastasis, the location is often atypical, and ultrasound findings are difficult to distinguish from other benign diseases. Therefore, this research should remind clinicians to recognize atypical presentations of this common childhood malignant tumor. Radiologists should also consider the possibility of neuroblastoma when finding this type of SSTM with atypical ultrasound features.

IFT-Net: Interactive Fusion Transformer Network for Quantitative Analysis of Pediatric Echocardiography.

The task of automatic segmentation and measurement of key anatomical structures in echocardiography is critical for subsequent extraction of clinical parameters. However, the influence of boundary blur, speckle noise, and other factors increase the difficulty of fully automatically segmenting 2D ultrasound images. The previous research has addressed this challenge using convolutional neural networks (CNN), which fails to consider global contextual information and long-range dependency. To further improve the quantitative analysis of pediatric echocardiography, this paper proposes an interactive fusion transformer network (IFT-Net) for quantitative analysis of pediatric echocardiography, which achieves the bidirectional fusion between local features and global context information by constructing interactive learning between the convolution branch and the transformer branch. First, we construct a dual-attention pyramid transformer (DPT) branch to model the long-range dependency from spatial and channels and enhance the learning of global context information. Second, we design a bidirectional interactive fusion (BIF) unit that fuses the local and global features interactively, maximizes their preservation and refines the segmentation. Finally, we measure the clinical anatomical parameters through key point positioning. Based on the parasternal short-axis (PSAX) view of the heart base from pediatric echocardiography, we segment and quantify the right ventricular outflow tract (RVOT) and aorta (AO) with promising results, indicating the potential clinical application. The code is publicly available at: https://github.com/Zhaocheng1/IFT-Net.

Ultrasonographic analysis of Langerhans cell histiocytosis in children: a report of 55 cases.

OBJECTIVE: To explore the value of ultrasonography in the diagnosis and treatment of Langerhans cell histiocytosis (LCH) in children. METHOD: The clinical and imaging features of 55 children with pathologically confirmed LCH were retrospectively analyzed. RESULTS: Thirteen patients had bone LCH and 42 had multisystem LCH. Among the 13 cases of bone LCH, 8 cases involving the skull and 2 involving the scapula were characterized by osteolytic bone destruction, 1 case involving the clavicle and 1 involving the iliac bone showed multiple irregular bone destruction, and 1 case involving the tibia showed local hypoechoic cortical bone. Soft tissue echo filling was present in the local areas of bone destruction. Among the 42 cases of multisystem LCH, 33 involved the bone, 35 showed an enlarged liver, 15 involved the spleen, 2 involved the pancreas, 3 involved the lung, 3 involved the thymus, and 21 affected the lymph nodes in different regions. CONCLUSIONS: Ultrasonography of the flat bones in children with LCH mainly showed punched-out osteolytic bone destruction. Long bone lesions were characterized by fan shell changes in the endosteum of long bones, and some also showed bone destruction. Multisystem LCH can affect almost any organ. Ultrasonography is important for early diagnosis.

Ultrasound findings in neonates with alveolar capillary dysplasia with misalignment of the pulmonary veins: report of two cases.

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare congenital pulmonary disease that affects newborns. Most patients with ACDMPV are born at full term and are healthy. The main clinical manifestations are refractory pulmonary hypertension and pulmonary failure with gastrointestinal, urinary, or cardiac malformations. ACDMPV often progresses rapidly, but no conventional biological or imaging tests other than genetic testing are available for its diagnosis. Lung biopsy is currently the gold standard for diagnosis. We herein report two cases of ACDMPV confirmed by pathological examination and discuss their ultrasonographic findings.

[Characteristics of Microbial Community Structure in the Surrounding Farmlands of a Mercury Mining Area and Its Environmental Driving Factors].

In order to investigate the characteristics of soil microbial community structure and their relationships with environmental factors in the surrounding farmlands of a mercury mining region, we analyzed soil physical and chemical properties, Hg pollution, enzyme activity, and microbial community structure characteristics in the surrounding farmlands of a mercury mining region in Tong Ren (Bahuang Town, Bijiang District; Huaqiao Town, Shiqian County; Kaide Town, Jiangkou County; and Chuantong town, Bijiang District; referred to as BJ, SQ, JK, and TR, respectively). The relationships between the characteristics of soil microbial community structure and environmental factors were determined using redundancy analysis (RDA) and correlation network analysis. The results showed that the degree of soil Hg contamination varied depending on the sampling locations in the study region. The soils in JK and TR were categorized as having light-level Hg contamination, whereas those in SQ and BJ were at moderate-level Hg contamination. The potential ecological risk indicated that the soil suffered different degrees of Hg contamination (TR was at a medium level, BJ and JK were at a serious level, and SQ was at a high severe level of pollution). The dominant bacteria flora were Proteobacteria, Actinobacteria, Acidobacteria, and Chloroflexi, whereas the dominant flora of fungi included Ascomycota, Basidiomycota, and Mortierellomycota. RDA analysis showed that pH, sucrase (SC), and catalase (CAT) activities were the key environmental factors of soil bacterial community structure. Soil pH, available nitrogen (AN), available potassium (AK), HCl-Hg, acid phosphatase (ACP), and urease (URE) activities were the key environmental factors that affected soil fungal community structure. Correlation network analysis indicated that pH, available phosphorus (AP), HCl-Hg, SC, ACP, and CAT were the key environmental factors affecting soil bacterial community structure, including Proteobacteria, Acidobacteria, Actinobacteria, Chloroflexi, Firmicutes, Rokubacteria, and Planctomycetes. AK, pH, total nitrogen (TN), AP, AN, ACP, URE, and SC activities were the key environmental factors affecting soil fungal community structure, such as Ascomycota, Basidiomycota, Mortierellomycota, Glomeromycota, Chytridiomycota, Rozellomycota, Kickxellomycota, and Mucoromycota.

Epidemiological investigation and ultrasonic diagnosis of developmental dysplasia of the hip in Chinese infants: A large multi-center cohort study.

ABSTRACT: Developmental dysplasia of the hip (DDH) is common among Chinese infants, but a lack of large-scale, multi-center epidemiological studies has made it difficult to characterize the risk factors associated with this disease.This multi-center cohort study included 19,833 Chinese infants aged 14 days to 6 months. A multi-center ultrasound protocol was used to diagnose hip abnormalities, and epidemiological data of the infants were collected through questionnaires. Categorical variables were expressed as percentages and compared using χ2 test. Multivariate analysis was performed through logistic regression.Of 19,833 infants, 345 had DDH (1.7%). DDH incidence was higher in female infants (n = 279) than in male infants (n = 66) (χ2 = 95.89, P < .05), and there were more left hip cases (n = 149) than right hip cases (n = 79) (χ2 = 12.49, P < .05). DDH incidence was statistically different amongst different age groups in months (χ2 = 451.71, P < .05), and it gradually decreased with age (P < .05). The prevalence of a positive DDH family history, breech presentation, oligohydramnios, swaddling style, and other musculoskeletal deformities was higher in the positive group than in the negative group (all P < .05). No significant differences were found in terms of delivery by cesarean section, multiple births, or premature birth between both groups.Family history, breech presentation, oligohydramnios, musculoskeletal deformities, and female sex are high-risk factors for DDH in Chinese infants. The incidence of DDH gradually decreases with age. The results of this study provide evidence for the epidemiology of infant DDH in China.

Establishing an appropriate Z score regression equation for Chinese pediatric coronary artery echocardiography: a multicenter prospective cohort study.

BACKGROUND: Z score utility is emphasized in classifying coronary artery lesions in Kawasaki disease patients. The present study is the largest such multicenter Chinese pediatric study about coronary artery diameter reference values and Z score regression equation to date. It is useful in Chinese pediatric echocardiography. METHODS: A multicenter cohort was assembled, which consisted of 852 healthy children between 1 month and 17 years of age, ten children were excluded because their ultrasound images were not clear, or lost in following up. Diameters of the right coronary artery, left coronary artery, and left anterior descending coronary artery were assessed using echocardiography. Data were body surface area (BSA)-corrected using BSA calculated via either the Stevenson BSA formula or the Haycock BSA formula. Coronary artery diameter reference values and Z score regression equations were established for use in the Chinese pediatric population. RESULTS: No difference was observed between coronary artery diameter data corrected using BSAste or BSAhay. Of the five assessed regression models, the exponential model exhibited the best fit and was therefore selected as the basis for derivation of the SZ method. When comparing Z scores, those produced by the SZ method conformed to the standard normal distribution, while those produced by the D method did not. In addition, there was a statistically significant difference between Z scores produced by the SZ and D methods (P < 0.05). CONCLUSIONS: Coronary artery diameter reference values for echocardiography were successfully established for use in the Chinese pediatric population, and a Z score regression equation more suitable for clinical use in this population was successfully developed.

Dual attention enhancement feature fusion network for segmentation and quantitative analysis of paediatric echocardiography.

Paediatric echocardiography is a standard method for screening congenital heart disease (CHD). The segmentation of paediatric echocardiography is essential for subsequent extraction of clinical parameters and interventional planning. However, it remains a challenging task due to (1) the considerable variation of key anatomic structures, (2) the poor lateral resolution affecting accurate boundary definition, (3) the existence of speckle noise and artefacts in echocardiographic images. In this paper, we propose a novel deep network to address these challenges comprehensively. We first present a dual-path feature extraction module (DP-FEM) to extract rich features via a channel attention mechanism. A high- and low-level feature fusion module (HL-FFM) is devised based on spatial attention, which selectively fuses rich semantic information from high-level features with spatial cues from low-level features. In addition, a hybrid loss is designed to deal with pixel-level misalignment and boundary ambiguities. Based on the segmentation results, we derive key clinical parameters for diagnosis and treatment planning. We extensively evaluate the proposed method on 4,485 two-dimensional (2D) paediatric echocardiograms from 127 echocardiographic videos. The proposed method consistently achieves better segmentation performance than other state-of-the-art methods, whichdemonstratesfeasibility for automatic segmentation and quantitative analysis of paediatric echocardiography. Our code is publicly available at https://github.com/end-of-the-century/Cardiac.

Assessing left ventricular systolic function in children with a history of Kawasaki disease.

BACKGROUND: The incidence of Kawasaki disease (KD) is increasing. Indeed, KD has become the most common cause of acquired heart disease in children. Previous studies have well summarized the acute phase left ventricular (LV) systolic dysfunction using speckle tracking echocardiography (STE); however, changes in LV systolic function after long-term follow-up remain unclear. METHODS: One hundred children with a history of KD, but without coronary artery aneurysms, were enrolled. These children were divided into two subgroups based on the presence or absence of coronary artery dilatation (CAD). The duration of follow-up was > 7 years. The control group consisted of 51 healthy children. The LV myocardial strain were measured by two- and three-dimensional STE. RESULTS: Two-dimensional STE not only revealed that LV longitudinal strain decreased in part of segments in both KD groups, but also showed that global strain decreased in the KD group with CAD compared to the controls (P < 0.05). Global longitudinal strain (GLS), global circumferential strain (GCS), global radial strain (GRS), and global area strain (GAS) were obtained by 3D STE. Compared to the controls, GLS and GAS decreased in both KD groups (P < 0.05). GCS and GRS decreased in the KD group with CAD, but was unchanged in the KD group without CAD (P < 0.05). CONCLUSIONS: LV systolic dysfunction in children with KD and CAD was more severe than KD children without CAD compared to healthy children. This dysfunction can be assessed by LV regional and global myocardial strain using two- and three-dimensional STE.

The Safety and Effectiveness of Intravenous Contrast-Enhanced Sonography in Chinese Children-A Single Center and Prospective Study in China.

Background and Objective: Intravenous contrast-enhanced ultrasound (CEUS), using the second-generation ultrasound contrast agent SonoVue®, has been widely used in adults. In 2016, it was approved for pediatric applications by the American Food and Drug Administration (FDA). However, it has not been approved by the Chinese Food and Drug Administration (CFDA). The objective of the study was to evaluate the safety and effectiveness of CEUS in children prospectively at a single center in China. Methods: A total of 312 cases of Chinese children were enrolled in clinical trials. Contrast agent was given intravenously with two different doses, including 2.4 ml/time and 0.03 ml/kg. All CEUS was performed for evaluating adverse effect and the diagnostic accuracy compared with the pathology and enhanced CT. Results: All 312 subjects underwent CEUS successfully. The dose of contrast agent for CEUS was 2.4 ml between November 2015 and June 2016, which was modified to 0.03 ml/kg between July 2016 and April 2019, according to the recommendation of the FDA. With the two different doses of the contrast agent, the heart rate, respiration rate, oxygen saturation, and blood pressure of the participants had no statistically significant difference (P > 0.05) before and after administration. The blood pressure had been significantly decreased in participants who received combined anesthetic administration. Following 600 intravenous injections of the CEUS, there were three cases of transient rash and three cases of hypotension (n = 6, 1.92%). The six recovered quickly after receiving intravenous methylprednisolone and epinephrine. Most of the studies were performed for evaluating renal microcirculation and assisting renal biopsy (192/312 [61.5%]), which together had a 98.9% effectiveness in the identification of pathology in the specimens. Some studies were conducted to identify a mass in the liver, retroperitoneum, abdominal cavity, kidneys, testicles, thyroid, and so on (99/312 [31.4%]), which had a 97.6% accuracy. The other studies were conducted to identify trauma, vascular malformation, infection, hemorrhage, and so on (21/312 [6.73%]), which had a similar accuracy to enhanced CT. Conclusion: The adverse effects of CEUS in children are similar to that in adults. The results indicate that it is safe to use SonoVue® for CEUS in pediatric patients.

Corrigendum: Atropine Premedication Facilitates Ultrasound-Guided Reduction by Saline Enema in Children With Intussusception.

[This corrects the article DOI: 10.3389/fphar.2019.00043.].

Initial application of three-dimensional speckle-tracking echocardiography to detect subclinical left ventricular dysfunction and stratify cardiomyopathy associated with Duchenne muscular dystrophy in children.

Three-dimensional (3D) speckle-tracking echocardiography (STE) is a new imaging modality used for quantitative analysis of left ventricular (LV) function. The aim of this study is to assess the value of 3D STE in early detection of subclinical myocardial involvement in children with Duchenne muscular dystrophy (DMD). Fifty-six children with DMD (mean age, 8.8 ± 1.9 years) and 31 age-matched control subjects were studied. Patients were subdivided into two groups by age: ≤ 8 or > 8 years. Standard echocardiography examinations were performed to measure LV size and ejection fraction (EF). 3D STE was performed to assess LV 3D global strain and LV end-diastolic volume (EDV), end-systolic volume (ESV), and EF. Standard and 3D echocardiography measures were compared between children with DMD and those in the control group as well as between different patient groups. The areas under the receiver-operating characteristic (ROC) curve were calculated to determine the capability of 3D global strain indices to discriminate between patients and control subjects. No significant difference was detected in either LVEF derived from M-mode or 3D echocardiography between the two groups, and they were both within the normal range. Compared with control subjects, children with DMD had significantly reduced LV 3D global longitudinal strain (GLS; - 16.6 ± 4.7 vs. - 19.5 ± 3.7, p = 0.003), global circumferential strain (GCS; - 13.7 ± 2.9 vs. - 15.8 ± 2.6, p = 0.001), global radial strain (GRS; 42.5 ± 9.7 vs. 50.3 ± 10.4, p = 0.001), and global area strain (GAS; - 25.3 ± 4.9 vs. - 30.7 ± 4.1, p = 0.000). The older DMD children (age > 8 years) had lower GLS (- 15.1 ± 4.43 vs. - 18.6 ± 4.35, p < 0.05), GCS (- 12.8 ± 3.48 vs. - 14.8 ± 2.83, p < 0.001), GAS (- 23.8 ± 4.7 vs. - 29.0 ± 5.4, p < 0.001), and GRS (40.7 ± 8.8 vs. 47.3 ± 11.5, p < 0.05) than younger patients (age ≤ 8 years). The AUC of GAS was 0.80, and the cutoff value of - 29.5 had a sensitivity of 85.7% and a specificity of 71.0% for differentiating DMD patients from control. 3D speckle-tracking echocardiography is useful for detecting subclinical myocardial dysfunction and stratifying cardiomyopathy in children with DMD.

Fully Automatic Pediatric Echocardiography Segmentation Using Deep Convolutional Networks Based on BiSeNet.

Accurate segmentation of pediatric echocardiography is an essential preprocessing step for a wide range of analysis tasks. Currently, it highly relies on sonographer's manual segmentation, which is time-consuming and redundant, and therefore might lead to mistakes. In this paper, we present a deep learning method based on Bilateral Segmentation Network (BiSeNet) to fully automatic segment pediatric echocardiography images in 4 chamber view. BiSeNet consists of two paths, a spatial path for capturing low-level spatial features, and a context path for exploiting high-level context semantic features. In addition, a feature fusion module is used to fuse features learned by both the two paths. Experiments based on our selfcollected dataset shows that our method achieves 0.932, and 0.908 in term of Dice index in the left ventricle and left atrium segmentation task, which outperforms different state-of-the-art U-Net architectures.

Infertility in a man with oligoasthenozoospermia associated with mosaic chromosome 22q11 deletion.

BACKGROUND: A 30-year-old oligoasthenozoospermia man was found to have unbalance mosaic translocation between chromosome 22 and four other chromosomes (5, 6, 13, and 15) during the investigations for a couple with infertility for 3 years, which is a rare event in human pathology. METHODS: Classical cytogenetics analysis, fluorescence in situ hybridization (FISH), and chromosome microarray analyses (CMA) were performed on peripheral blood lymphocytes; copy number variation sequencing (CNV-Seq) analysis was performed on sperm DNA. RESULTS: Classical cytogenetics analysis showed the presence of six cell lines on peripheral blood lymphocytes: 45, XY, der (13) t(13;22),-22[10]/46, XY, t(13;22)[6]/45, XY, der(15)t(15;22),-22[4]/46, XY, t(13;22)[1]/45, XY, der(5)t(5;22),-22[1]/45, XY, der(6)t(6;22)[1]. FISH and CMA performed on peripheral blood cells showed the presence of a 6.9 Mb mosaic 22q11 deletion (approximately 50% of cells); it is unexpected that the phenotypes of this man were merely oligoasthenozoospermia, mild bradycardia, and mild tricuspid regurgitation. CNV-Seq analysis performed on sperm DNA revealed the rate of 22q11 deletion cells was obviously lower compared with peripheral blood cells. And the frequency of gametes exhibiting a normal or balance chromosomal equipment was above 80% in sperm samples. CONCLUSION: To the best of our knowledge, this report is the first case of a de novo gonosomal mosaic of chromosome 22q11 deletion just associated with male infertility.

[Nitrogen and Phosphorous Adsorption Characteristics of Suspended Solids Input into a Drinking Water Reservoir via Typhoon Heavy Rainfall].

During typhoon "Mujigae" in October 2015, water samples and surface sediments were collected from Gaozhou Reservoir, a drinking water reservoir, for simulation and analysis of the kinetics of suspended solids adsorption to nitrogen and phosphorus and the adsorption isotherms of suspended solids with different particle sizes and different concentrations. The results showed no obvious nitrogen adsorption of suspended solids of Gaozhou Reservoir. However, the adsorption effect to phosphorus by suspended solids was significant and the equilibrium time of phosphorus adsorption was 10 hours. The adsorption capacity of phosphorus increased with the decrease of sediment particle size when particle sizes were less than 0.25 mm, whereas it increased with the increase of suspended solids concentration when the concentration was in the range of 0.2-2.0 kg·m-3. The adsorption isotherm of suspended solids to phosphorus conformed to the Langmuir and Freundlich models, and the maximum adsorption capacity increased with the decrease of suspended solids particle sizes, which increased with the increase of suspended solids concentrations. The maximum adsorption capacity of suspended solids to phosphorus was 0.073-1.776 mg·g-1. These results indicated that the increase of suspended solids concentration due to the heavy rainfall of the typhoon promoted the adsorption of suspended solids to phosphorus, which reduced eutrophication in Gaozhou Reservoir.