Ultrasound Abnormalities Research Articles

Diagnostic efficacy of combined high- and low-frequency ultrasound in post-hematopoietic stem cell transplantation ureteral obstruction in leukemia patients.

The objective of this study was to evaluate the diagnostic efficacy of high- and low-frequency ultrasound (H&LFUS) in the imaging of post-hematopoietic stem cell transplantation (post-HSCT) ureteral obstruction in leukemia patients. A total of 103 patients who received HSCT for leukemia were included in this retrospective study. Patients underwent examinations using high-frequency ultrasound (HFUS), low-frequency ultrasound (LFUS), and the combined use of H&LFUS approach. Baseline data, clinical laboratory parameters, and clinical parameters were compared among the groups. Ultrasound findings and diagnostic sensitivity, specificity and accuracy were also analyzed to assess the diagnostic value of the imaging modalities. The investigation demonstrated no statistically significant distinctions in demographic, baseline, and clinical parameters among the HFUS group, LFUS group, and H&LFUS group. Nonetheless, notable differences emerged in the detection rates of specific ultrasound abnormalities, encompassing ureteral dilatation, wall thickening, urine flow obstruction, hydronephrosis, bladder wall thickening, andrenal masses. Regarding diagnostic performance metrics, H&LFUS approach exhibited superior efficacy across sensitivity, specificity, and overall accuracy, registering rates of 91.43%, 88.57%, and 90%, respectively, surpassing those of the individual HFUS and LFUS methodologies. The amalgamation of H&LFUS techniques manifests as a formidable diagnostic modality, characterized by heightened sensitivity, specificity, and diagnostic accuracy.

Clinical features and genetic analysis of 471 cases of fetal congenital heart disease

BackgroundCongenital heart disease (CHD) is a heterogeneous collection of structural abnormalities of the heart or great vessels that are present at birth. These birth defects are one of the leading causes of infant mortality and morbidity worldwide. The etiology and pathogenesis of CHD are unclear and largely considered to be multifactorial in nature. Since the chromosomal profile of CHD has not been analyzed in a large sample size, we aimed to summarize the clinical features, cytogenetics findings, and pregnancy outcomes of CHD to provide a clinical reference for prenatal diagnosis.MethodsAmong 21,152 pregnant women, 471 (2.23%) showed fetal CHD on cordocentesis or amniocentesis. The number of cases showing simple CHD, simple CHD with concomitant extracardiac structural abnormalities, complex CHD, and complex CHD with concomitant extracardiac structural abnormalities was 128, 124, 89, and 130, respectively. For prenatal genetic diagnosis, karyotyping was performed with single-nucleotide polymorphism array(SNP-array)-based chromosomal microarrays, fluorescence in situ hybridization (FISH), copy number variation sequencing (CNV-seq), and BACs-on-Beads™ (BoBs) analyses. The results of ultrasonography examinations, genetic analyses, and pregnancy outcomes were recorded in detail.ResultsVentricular septal defects (VSDs) were observed in 245 (52.02%) cases of fetal CHD. Among the 471 cases of CHD, 258 (54.78%) showed other ultrasound abnormalities. The most common ultrasound abnormalities were abnormalities of the central nervous system. The 471 cases included 93 (19.75%) cases showing chromosomal abnormalities, and the incidence of these abnormalities increased with advanced maternal age or the presence of other ultrasound abnormalities. In eight cases, karyotype analysis showed normal results while SNP-array or CNV-seq results were abnormal. Among the 453 cases that were followed up, 166 (36.64%) involved pregnancy termination, 273 (60.26%) involved live births, 7 (1.55%) involved fetal death in utero, and 7 (1.55%) involved neonatal death after birth.ConclusionsFetuses with CHD showed higher rates of chromosomal abnormalities. In cases diagnosed with fetal CHD during fetal ultrasonic examination, the mothers should undergo a careful and comprehensive fetal ultrasound scan as well as prenatal genetic testing, including karyotype analysis and SNP-array or CNV-sequencing. The prognosis for simple fetal CHD is good, while the prognosis for complex fetal CHD and extracardiac anomalies is poor.

Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China.

Karyotyping and chromosome microarray analysis (CMA) are the two main prenatal diagnostic techniques currently used for genetic testing. We aimed to evaluate the value of chromosomal karyotyping and CMA for different prenatal indications. A total of 2084 amniocentesis samples from pregnant women who underwent prenatal diagnosis from 16 to 22 + 6weeks of gestation between January 2021 and December 2022 were retrospectively collected. The pregnant women were classified according to different prenatal diagnostic indications and underwent CMA and karyotype analysis. Clinical data were collected, and the results of the CMA and karyotype analysis were statistically analyzed to compare the effects of the two diagnostic techniques. The total detection rate of abnormal chromosomes was significantly higher using CMA than karyotype analysis. The detection rate of abnormal chromosomes using CMA was significantly higher than that using karyotyping for ultrasound abnormalities, high-risk serologic screening, adverse pregnancy history, positive noninvasive prenatal test (NIPT) screening, and ultrasound abnormalities combined with adverse pregnancy history indications. Among the fetuses with inconsistent results between the two testing methods, 144 had an abnormal CMA but a normal karyotype, with the highest percentage of pregnant women with ultrasound abnormalities at 38.89% (56/144). CMA had the highest detection rate for structural abnormalities combined with soft-index abnormalities among all ultrasound abnormalities. The highest detection rate of copy number variants in the group of structural abnormalities in a single system was in the genitourinary system (3/29, 10.34%). CMA can improve the detection rate of chromosomal abnormalities in patients with ultrasound abnormalities, high-risk serologic screening, adverse maternal history, positive NIPT screening, and ultrasound abnormalities combined with adverse maternal history and can increase the detection rate of chromosomal abnormalities in karyotypic normality by 6.91% (144/2,084), this result is higher than similar studies. However, karyotype analysis remains advantageous over CMA regarding balanced chromosomal rearrangement and detection of low-level chimeras, and the combination of the two methods is more helpful in improving the detection rate of prenatal chromosomal abnormalities.

Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?

ObjectiveAnalyze the ultrasound findings, single nucleotide polymorphism array (SNP-array) results, and pregnancy outcomes of fetuses with 7q11.23 deletions and duplications in the second and third trimesters. Investigate the prenatal ultrasound characteristics and follow up information of these fetuses.MethodsSeven fetuses were diagnosed with 7q11.23 deletion and six with 7q11.23 duplication via SNP-array at the prenatal diagnosis center of a single Chinese tertiary medical center from January 2017 to May 2024. Maternal demographics, ultrasound findings, SNP-array results, pregnancy outcomes, and follow-up information were comprehensively reviewed and analyzed.ResultsThe copy number variations (CNVs) ranged from 1.43 Mb to 1.78 Mb in cases of 7q11.23 deletions and from 1.42 Mb to 1.68 Mb in cases of 7q11.23 duplications. These CNVs encompassed 29 OMIM-listed genes, including ELN, DNAJC30, GTF2IRD1, and GTF2I. Among the seven cases of 7q11.23 deletion syndrome, six exhibited ultrasound abnormalities. The main clinical phenotypes included three cases of intrauterine growth restriction and four cases of cardiovascular system abnormalities, specifically two cases with ventricular septal defects, one case with aortic narrowing, and one case with supravalvular pulmonary stenosis. One case was particularly notable, exhibiting complex multi-organ structural malformations. Out of six cases of 7q11.23 duplication syndrome, five exhibited ultrasound abnormalities. These included two cases of cardiovascular abnormalities: one case with a widened left ventricle and another case with a shortened fetal humerus length. One case revealed complex multi-organ structural malformations, including hydronephrosis, a microgallbladder, and a cleft lip and palate. All seven cases of 7q11.23 deletions and three cases of 7q11.23 duplications opted for termination of the pregnancy. The remaining three cases of 7q11.23 duplications chose to continue the pregnancy. One case underwent surgical treatment for a ventricular septal defect after birth, and the prognosis was favorable. Another case involved a full-term delivery, this child was followed up at the age of 4 and exhibited a phenotype of poor language expression ability.ConclusionOur study broadened the clinical phenotype spectrum of fetuses with 7q11.23 deletions and duplications. Additionally, it conducted a preliminary evaluation of prenatal ultrasound findings and postnatal clinical phenotypes in follow-up cases. The clinical phenotype of fetuses with 7q11.23 deletion and duplication syndromes involves multiple systems and is relatively complex. Cardiovascular abnormalities and intrauterine growth restriction are the most common clinical manifestations observed in prenatal 7q11.23 deletion syndrome. Fetuses with 7q11.23 duplications exhibit a wide range of clinical phenotypes that lack specificity.

Ultrasound Screening of Achilles Tendon, Patellar Tendon, and Plantar Fascia for Pain Development in Collegiate Athletes: A Multi-institutional Prospective Evaluation.

Diagnostic ultrasound can evaluate musculoskeletal structures for abnormalities that correlate with tendinopathy and fasciopathy. Previous literature suggests that sonographic screening of tendons and fascia can identify structures that are at risk for developing pain, although this has not been evaluated in collegiate athletes competing in a variety of sports. To evaluate the use of ultrasound for screening the patellar tendon, Achilles tendon, and plantar fascia for time-loss injury in collegiate athletes during a full year. Cohort study; Level of evidence, 2. A total of 242 National Collegiate Athletic Association (NCAA) Division I athletes from 3 institutions participated in this yearlong prospective observational study. Each athlete completed a brief demographic questionnaire, followed by an ultrasound examination of the bilateral patellar tendons, Achilles tendons, and plantar fascia performed at the beginning of the season. Ultrasound examinations assessed for tendon/fascia thickening, hypoechogenicity, and neovascularization. Athletes were monitored for any time-loss injury in these 3 structures throughout a full year. Of the 242 athletes (n = 484 tendon/fascia) evaluated, the patellar tendon had the highest prevalence of sonographic abnormalities (37.4%), followed by the Achilles tendon (10.6%); plantar fascia abnormalities were rare (3.5%). The overall number of tendon/fascia structures that developed injury was low (<5%). The relative risk for a time-loss injury based on an initial abnormal ultrasound screening was 8.8, 17.2, and 13.2 for the patellar tendon, Achilles tendon, and plantar fascia, respectively (P < .01). Negative predictive values (99-99.6) far outweighed positive predictive values (10.3-14). NCAA Division I student-athletes with sonographic abnormalities on initial screening were more likely to develop a time-loss injury in the affected tendon/fascia during the competitive season. Further research on this topic should focus on identifying the specific sonographic abnormalities and their relationship with future injury.

Kidney volume and function of low-birth-weight children at 5years: impact of singleton and twin birth.

Many studies have demonstrated the association between low birth weight (LBW) and chronic kidney disease, estimated glomerular filtration rate (eGFR) and kidney volume (KV). However, studies on twins and those investigating numerous perinatal factors beyond LBW, and their associations with various kidney parameters are scarce. A two-center cross-sectional study on five-year-old LBW children was conducted between 2021 and 2023. 110 children were enrolled (8 LBW, 58 very LBW (VLBW), 44 extremely LBW (ELBW)); 56 were twins. We examined associations between birth weight (BW), various prenatal, perinatal and postnatal factors, and eGFR, KV, tubular abnormalities and kidney ultrasound abnormalities, both in singletons and twins. In children with ELBW, eGFR correlated with BW (r = 0.55, P = 0.0018), while in those with BW ≥ 1000g, eGFR remained constant. Other factors associated with decreased eGFR were hypertensive disorder of pregnancy (93.86 vs. 87.26ml/min/1.73m2, P = 0.0285) in singletons, decreased growth velocity (β = 0.83, P = 0.0277) in twins, and lower total KV (tKV) and relative KV (rKV) in both singletons (r = 0.60, P < 0.0001 for tKV and r = 0.45, P = 0.0010 for rKV) and twins (β = 0.34, P < 0.0001 for tKV and β = 0.23, P = 0.0002 for rKV). Based on the multivariable models excluding KV, BW and gestational age were associated with eGFR in singletons, while male gender, BW, growth velocity, and coffee drinking during pregnancy were associated with eGFR in twins. However, in models that included KV, BW, gestational age and growth velocity were no longer significant. Total KV was associated with BW (r = 0.39, P = 0.0050 for singletons; β = 2.85, P < 0.0001 for twins), body mass index (r = 0.34, P = 0.0145 for singletons; β = 8.44, P < 0.0001 for twins), and growth velocity (β = 1.43, P = 0.0078). Twins born small for gestational age had lower tKV (70.88 vs 89.20ml, P < 0.0001). Relative KV showed similar associations. Relative kidney volumes were significantly lower for both kidneys compared to the reference population (55.02 vs 65.42ml/m2, P < 0.0001 for right kidney and 61.12 vs 66.25ml/m2, P = 0.0015 for left kidney); however, only 8.6% of children had rKV below 10th percentile. Many factors affect eGFR and KV, some of them differ between twins and singletons. Based on multivariable models, eGFR seems to be better predicted by KV than by BW and gestational age in LBW children. Relative kidney volumes were significantly lower in our cohort compared to the reference population, but only 8.6% of rKV were below 10th percentile.

The association of increased incidence of congenital heart disease in newborns with maternal COVID-19 infection during pregnancy

This paper aims to examine the potential link between maternal COVID-19 infection during pregnancy and the increased risk of congenital heart disease (CHD) in newborns. A comparative analysis was conducted involving two groups: mothers infected with COVID-19 during pregnancy and a control group. Data on maternal characteristics, pregnancy-related complications, and newborn outcomes were collected and analyzed. Additionally, the annual incidence rates of CHD from 2020 to 2023 were evaluated to assess trends over time. No significant differences were found between the COVID-19 cases and the control group in terms of maternal age, BMI, gravidity, parity, use of assisted reproductive technology, adverse obstetric history, or complications during pregnancy, including diabetes mellitus, preeclampsia, and thyroid abnormalities. For newborn outcomes, there were no significant differences in sex distribution, rate of cesarean delivery, Apgar scores, or birth weight. However, a significantly higher prevalence of cardiac ultrasound abnormalities was observed in the COVID-19 group (10.08%) compared to the control group (4.13%, p = 0.012). Further analysis revealed that the majority of cardiac abnormalities in the COVID-19 group occurred in mothers infected before 8 weeks of pregnancy. The annual incidence rates of CHD showed a significant increase during the COVID-19 pandemic, with the highest rate in 2023 (5.46%) compared to previous years. Maternal COVID-19 infection during pregnancy may adversely affect the development of the newborn’s heart. This could be due to the inflammatory response caused by the viral infection or other pathological processes. The findings underscore the importance of vigilant prenatal care and early detection of cardiac abnormalities during the pandemic and suggest the need for further research to explore potential mechanisms and intervention strategies.

Second Trimester Screening Markers of Fetal Chromosomal Abnormalities Other than Common Trisomies: A Case-Control Study

Background: To enhance the efficacy of maternal serum screening (MSS), we conducted an analysis to examine the correlation between certain factors identified during second-trimester screening (STS) and fetal chromosomal abnormalities, excluding the common trisomies (trisomies 13, 18, and 21). Additionally, specific risk factor ranges were established for each category. Methods: A retrospective 1:3 matched case-control study was conducted. Case data were obtained from 311 STS samples of fetal chromosomal abnormalities other than common trisomies, with testing performed in the Prenatal Diagnosis Center of the Maternal and Child Health Care Hospital of Sichuan Province in China between 6 January 2013 and 12 April 2023. A total of 933 controls were matched accordingly. Univariate and multivariable conditional logistic regression analyses were implemented and sensitivity analysis was performed. Results: Multivariable logistic analyses revealed that the independent risk factors for fetal chromosomal abnormalities other than common trisomies were ultrasonographic structural abnormalities (odds ratio (OR) = 3.038; 95% confidence interval (CI), 1.774–5.202; p &lt; 0.001); free β-human chorionic gonadotropin (free β-hCG) as multiples of the median (MoMs) of ≤0.34 (OR = 3.006; 95% CI, 1.803–5.013; p &lt; 0.001), 2.82–3.53 (OR = 1.884; 95% CI, 1.321–2.688; p &lt; 0.001), 3.54–4.67 (OR = 1.949; 95% CI, 1.300–2.923, p = 0.001), and ≥4.68 (OR = 1.730; 95% CI, 1.045–2.866; p = 0.033); and a trisomy 21 (T21) risk of 1/271–1/1000 (OR = 2.434; 95% CI, 1.706–3.472; p &lt; 0.001), 1/101–1/270 (OR = 3.330; 95% CI, 2.300–4.821; p &lt; 0.001), and ≥1/100 (OR = 3.441; 95% CI, 2.178–5.438; p &lt; 0.001). Conclusions: Ultrasonographic structural abnormalities, free β-hCG MoMs, and T21 risk were identified as independent risk factors for fetal chromosomal abnormalities (with the exception of common trisomies) in STS. Our findings thus provide data to support clinical decision-making.

The value of ultrasound for monitoring disease activity in giant cell arteritis

Giant cell arteritis (GCA) is the most common primary systemic vasculitis in the elderly. Although the diagnosis of GCA has improved, monitoring its disease activity remains challenging due to the lack of validated tools and biomarkers. The current reliance on assessing symptoms, physical signs, and inflammatory markers during disease follow-up presents limitations, notably the nonspecific nature of GCA-related symptoms and the suppressive impact of IL-6 inhibitors on inflammatory markers. Therefore, recent attention has shifted toward acknowledging imaging as a monitoring tool, particularly ultrasound, given its widespread accessibility, cost-effectiveness, and well-established role in GCA diagnosis. Research on this topic has found that ultrasound characteristics, including the number of affected arterial segments and halo size, are associated with laboratory markers and treatment response, underscoring the ultrasound’s potential as a monitoring tool for GCA. It has also been demonstrated that ultrasound abnormalities progress differently throughout the disease course, depending on the type of arterial involvement, with vessel wall changes in the axillary arteries resolving more slowly than those in the temporal arteries. Nevertheless, there are still no studies comparing the added value of regular ultrasounds for monitoring disease activity to clinical and laboratory monitoring alone; hence, this imaging modality is not yet recommended for patients with GCA in clinical and biochemical remission. This narrative review aims to synthesize the main research findings of key studies addressing the role of ultrasound for monitoring disease activity in GCA, with a focus on the pattern of arterial involvement. It highlights the potential of ultrasound, particularly halo sign assessment, for evaluating disease progression but notes that further validation and standardization of protocols are needed to improve accuracy and enable routine use.

Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome.

The clinical phenotypes of 16p13.11 microduplication syndrome have been extensively reported in previous studies, mostly about adults and children, with limited information available on fetal cases. This study aims to explore the genotype-phenotype correlation of fetuses with 16p13.11 microduplication syndrome and analyze the characteristics of prenatal diagnosis indications and provide clinical information for prenatal and postnatal genetic counseling. We conducted a retrospective analysis of 3,451 pregnant women who underwent invasive prenatal diagnosis for SNP array between January 2018 and December 2022 at the Jinan Maternal and Child Health Hospital. Descriptive statistical analysis was performed on the prenatal diagnosis indications, pedigree analysis, pregnancy outcomes and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome. SNP array revealed that 15 fetuses had duplications in the 16p13.11 region with varying prenatal diagnosis indications. Among the cases, 6/15 exhibited ultrasound abnormalities, 5/15 had abnormal chromosomal copy number variations as indicated by non-invasive prenatal testing (NIPT), one case involved advanced maternal age, and 3/15 had other abnormalities. 16p13.11 microduplication syndrome was closely related to ultrasound abnormalities, especially structural abnormalities and soft marker anomalies (abnormal ultrasonic soft indicators), while the indication of NIPT could improve the detection rate of copy number variations (CNVs) in this region. Only 7/15 fetuses underwent pedigree verification, with one case of de novo 16p13.11 microduplication, and the others inherited from one parent. Pregnancy was terminated in 2/15 cases and the outcome of one case is unknown due to loss to follow-up. Among the remaining cases, only one case exhibited a ventricular septal defect, while another presented with omphalocele. No other obvious abnormalities were reported postnatally. The prenatal phenotypes of fetuses with 16p13.11 microduplication were highly associated with ultrasound abnormalities but lacked specificity. Comprehensive genetic tracing, outcome analysis, and follow-up are essential for providing accurate prenatal and postnatal genetic counseling.

A CASE REPORT OF CHRONIC HEPATITIS WITH EFFUSION IN A DOG AND ITS THERAPEUTIC MANAGEMENT

The present study was aimed to know the chronic hepatitis with abdominal effusion in a beagle dog and its therapeutic management. A 2.5 year old male beagle was presented to Madras Veterinary College teaching Hospital, madras veterinary college, Chennai with the history of inappetence, abdominal distension for past 10 days and the clinical signs of inappetence, fever and palpablelymph node and congested mucous membrane. On Physical examination, dog showed respiratory distress and dull. Dog was subjected for radiography examination, haematology, biochemistry parameters and ultrasound examination. On first day of examination, dog was treated with Lasix at the dose rate of 3 mg/kg body weight, antibiotics and Tribivet injection. Hematology and biochemical values revealed neutrophilia, elevated alkaline phosphatase, total bilirubin, direct bilirubin, and decreased total protein and albumin. The lateral view radiography of abdomen revealed fluid shadow and ultrasound examination revealed that chronic hepatitis with moderate abdominal effusion. In case of clinical suspicion of hepatitis an ultrasonographic liver scan can be of diagnostic aid and the finding of an altered structure can be indicative of a liver problem. In many cases of chronic hepatitis may not be associated with ultrasound abnormalities but ascites can be easily identified. Dog was treated with antibiotic cefotaxime at the dose rate of 25 mg/Kg body weight and Lasix at the dose rate of 3 mg/Kg body weight with liver supplement of Lysibin which contain silymarin and supplement with Astymin syrup for 3 weeks. The animal was reviewed after three weeks of treatment which was subjected for haeamtology, biochemistry and ultrasound examination which revealed there was improvement in the blood parameters with decreased total protein and normal level of Alkaline phosphatase and bilirubin level and ultrasound examination revealed normal study of abdominal effusion and liver echogenicity and dog had normal appetite and normal vital parameters. In this case hepatitis may be due to any viral etiology like adenovirus that may cause hepatitis with effusion that may be respond to treatment and diuretics and brought normal parameters of vital in dog. Chronic hepatitis with effusion may be further confirmed by Liver biopsy and molecular diagnosis.

Risk factors associated with late-onset hearing loss in children with congenital cytomegalovirus: a systematic review.

To search for existing evidence of prognostic factors related to the development of late-onset hearing loss (LOHL) in infants with congenital cytomegalovirus (cCMV). A PRISMA systematic review was performed, with the PubMed, Embase, and Web of Science databases searched from inception through to December 2023; after the application of inclusion and exclusion criteria a total of 9 papers were included in this review. PROSPERO registration number CRD42024492244. 9 studies encompassing a total of 292 children with late-onset hearing loss were included. A total of 12 risk factors were identified in the literature, with 6 found to be statistically significant. Late-onset hearing loss was more frequently reported in children with symptomatic than asymptomatic cCMV. Moreover, in asymptomatic cCMV cases, elevated DNAemia and salivary viral load were associated with late-onset hearing loss. Additionally, first-trimester seroconversion was identified as a risk factor for late- onset hearing loss. Further, gestational age < 37weeks and low birth weight were found to correlate with late-onset hearing loss. Remarkably, only one study documented a relationship between late-onset hearing loss and ultrasonographic abnormalities. Although six statistically significant risk factors have been identified, the available evidence is limited and inconsistent, preventing the establishment of reliable neonatal and maternal parameters to predict the development of LOHL in patients with CMV. There are few studies addressing this topic, and those available exhibit a low level of evidence and heterogeneous designs. More studies should be done.

Congenital solitary functioning kidney: evaluations to do which, when, and how

Congenital solitary functioning kidney (CSFK) is characterized by an anatomical or functional absence of one kidney from birth. When suspected on perinatal ultrasonography (US), repeat US after birth should be performed for confirmation. Although postnatal 99mTc-dimercaptosuccinic acid scintigraphy (DMSA scan) is the gold standard for confirming CSFK, it carries the risk of radiation exposure; US alone is sufficient when performed by an experienced radiologist. One-third of patients with CSFK have additional congenital anomalies of the kidney and urinary tract at the solitary functioning kidney, the most common of which is vesicoureteral reflux. As evidence regarding vesicoureteral reflux with normal kidney US is correlated with significant urinary tract infection is lacking, voiding cystourethrogram may be considered in patients with CSFK with abnormal US findings. Furthermore, approximately 30% of patients with CSFK have extrarenal malformations. Moreover, up to 10% of them have syndromic features. In particular, examining for female genitalia malformations, which can have potential for complications from untreated obstructive malformations, is important. In conclusion, DMSA scan and voiding cystourethrogram are not necessary for all patients with CSFK, and the risk of each patient should be assessed to determine which test is needed during follow-up. The presence of extrarenal manifestations should also always be considered.

Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities.

Chromosomal microarray analysis (CMA) is a first-line test to assess the genetic etiology of fetal ultrasound abnormalities. The aim of this study was to evaluate the effectiveness of CMA in detecting chromosomal abnormalities in fetuses with ultrasound abnormalities, including structural abnormalities and non-structural abnormalities. A retrospective study was conducted on 368 fetuses with abnormal ultrasound who received interventional prenatal diagnosis at Meizhou People's Hospital from October 2022 to December 2023. Samples of villi, amniotic fluid, and umbilical cord blood were collected according to different gestational weeks, and karyotype and CMA analyses were performed. The detection rate of chromosomal abnormalities in different ultrasonic abnormalities was analyzed. There were 368 fetuses with abnormal ultrasound, including 114 (31.0%) with structural abnormalities, 225 (61.1%) with non-structural abnormalities, and 29 (7.9%) with structural combined with non-structural abnormalities. The detection rate of aneuploidy and pathogenic (P)/likely pathogenic (LP) copy number variations (CNVs) of CMA in fetuses with structural abnormalities was 5.26% (6/114), the detection rate of karyotype was 2.63% (3/114), and the additional diagnosis rate of CMA was 2.63%. In the fetuses with ultrasonic non-structural abnormalities, the detection rate of karyotype was 6.22% (14/225), the detection rate of aneuploidy and P/LP CNVs in fetuses with ultrasonic structural abnormalities was 9.33% (21/225), and the additional diagnosis rate of CMA was 3.11%. There was no significant difference in chromosome abnormality detection rate of CMA among structural abnormality, non-structural abnormality, and structural abnormality combined with non-structural abnormality groups (5.3%, 9.3%, and 13.8%, p = 0.241), also among multiple ultrasonic abnormality and single ultrasonic abnormality groups (14.8%, and 7.3%, p = 0.105). CMA can significantly improve the detection rate of genetic abnormalities in prenatal diagnosis of ultrasonic abnormal fetuses compared with karyotype analysis. CMA is a more effective tool than karyotyping alone in detecting chromosomal abnormalities in fetuses with ultrasound abnormalities.

Ultrasonographic abnormalities in clinically unaffected nerves of patients with nonvasculitic motor and sensorimotor mononeuropathies.

Diagnostic criteria for multifocal motor neuropathy (MMN) and multifocal acquired demyelinating sensorimotor neuropathy (MADSAM) require the involvement of at least two peripheral nerves. However, many patients with very similar features have clinical involvement of only a single peripheral nerve, which may preclude their correct diagnosis and treatment. The present study aimed to present a cohort of such patients and discuss the role of ultrasonography (US) in their diagnosis. Patients with nonvasculitic immune-mediated motor mononeuropathies (MM) and sensorimotor mononeuropathies (SMM) were recruited prospectively or identified from the electronic records. They were invited to comprehensive follow-up visits consisting of clinical examination, electrodiagnostic (EDx), and US studies. Twenty-four patients (13 men) were studied (11 with MM). The characteristics of MM and SMM patients were very similar to MMN and MADSAM, respectively. The US, in addition to a long-swollen segment (average length, 20 cm) in the clinically affected nerve, revealed nerve swelling in, on average, six additional sites in clinically unaffected nerves. In patients with clinical and EDx involvement of only a single nerve, an US demonstration of multifocal peripheral nerve swelling points to a more widespread, probably dysimmune mechanism. Further studies are needed to evaluate the value of US as a supplementary method for the diagnosis of MADSAM and MMN in patients with clinical involvement of a single nerve.

A Deeper Look at Office Hysteroscopy in Asymptomatic Postmenopausal Patients: indications and outcomes of 822 Cases.

Study ObjectiveThis study aims to assess the prevalence of malignancy and other endometrial pathologies in asymptomatic postmenopausal women referred for office hysteroscopy, identify main referral indications, and assess their relationship with the risk of malignancy.Secondary objectives included evaluating the association between ultrasound variables and malignancy risk and assessing procedure validity, which encompasses duration, feasibility and patient comfort during office hysteroscopy. DesignRetrospective analysis. SettingThe study was conducted at the Department of Gynecology, Division of Gynaecology and Obstetrics, University Medical Centre Ljubljana, Slovenia's largest tertiary care center. ParticipantsThe cohort consisted of 822 asymptomatic postmenopausal women referred for office hysteroscopy, excluding those with postmenopausal bleeding within the last year. InterventionsParticipants underwent office hysteroscopy with or without biopsy. Measurements and Main ResultsThe main indication for hysteroscopy was ultrasound abnormalities alone, with remaining indications including a combination of ultrasound and clinical findings. Among the cohort, 97.4% exhibited benign findings, while 2.6% were diagnosed with cancer or precancerous lesions. The analysis revealed that patients with indications based on ultrasound and clinical findings suggestive of malignancy had a higher risk of malignancy compared to those with ultrasound alone. In 387 patients with documented ultrasound variables, inhomogeneous endometrial appearance (OR: 8.2, 95% CI: 2.4-27.9, p<0.001) and significant liquid content within the uterine cavity (OR: 10.2, 95% CI: 3.6-28.9, p<0.001) exhibited strong associations with malignancy. Analysis of the procedure revealed a high feasibility rate (87.8%), with a median duration of 13,7 minutes and a median VAS pain score after the procedure of 3/10. ConclusionsThe prevalence of endometrial cancer and precancerous lesions in asymptomatic postmenopausal patients is likely low, with most intrauterine pathologies being benign. Our study demises the utility of routine endometrial surveillance for this population in the absence of specific risk factors. A holistic approach, considering individualized assessments and factors beyond endometrial thickness, is crucial in interpreting ultrasonic findings.

Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies

BackgroundFetal structural anomalies are detected by ultrasound in approximately 3 % of pregnancies. Numerous genetic diagnostic strategies have been widely applied to identify the genetic causes of prenatal abnormalities. We aimed to assess the value of simultaneous copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) in diagnosing fetuses with structural anomalies. MethodsFetuses with structural anomalies detected by ultrasound were included for eligibility. After genetic counseling, WES and CNV-seq were performed on DNA samples of fetuses and their parents. All detected variants were evaluated for pathogenicity according to ACMG criteria, with the final diagnosis was determined based on ultrasound results and relevant family history. ResultsThe diagnostic rate of 174 fetuses with prenatal ultrasound abnormalities was 26.44 %, higher than that achieved through either CNV or WES analysis alone. Furthermore, the highest diagnostic rate was observed in fetuses with multiple system anomalies, accounting for 50 % of the total diagnostic yield, followed by skeletal system anomalies at 45.45 %. Three cases with multiple system abnormalities were found to have a dual diagnosis of pathogenic CNVs and SNV variants, representing 1.72 % of the total cohort. 38 pregnant women in their third trimester of pregnancy (27 weeks+) participated in this study, and 23.68 % received a confirmed genetic diagnosis. Finally, 31 women (67.39 %) voluntarily terminated their pregnancy following the testing and extensive genetic counseling. ConclusionsOur study demonstrated that the simultaneous CNV-seq and WES analyses are beneficial for the molecular diagnosis of underlying unexplained structural anomalies in fetuses. This strategy is more efficient in elucidating prenatal abnormalities with compound problems, such as dual diagnoses. Furthermore, the simultaneous strategy has a shorter turnaround time and is particularly suitable for families with structural anomalies found in the third trimester of pregnancy.

Role of Ultrasound Imaging in Children with Dengue Fever: A Retrospective Study

Objective: To study ultrasound findings of children with dengue and analyze the possible correlation between ultrasound findings and severity of dengue in children.Methods: This retrospective study, which was conducted over one year, analyzed 50 pediatric dengue patients. Ultrasound findings such as gallbladder wall edema, pleural effusion and ascites were assessed. Cases were categorized into dengue without warning signs, dengue with warning signs, and severe dengue according to the World Health Organization's classification of dengue. Correlation between ultrasound abnormalities, severity of dengue, and thrombocytopenia were analyses. A p-value of less than 0.05 was taken as statistically significant.Results: Of 50 pediatric patients diagnosed with dengue participated in this study, 72% were boys, and 28% were girls with a male-to-female ratio of 1:0.38. Fever was the most frequent symptom (100%), followed by nausea/vomiting (84%) and body ache/myalgia (78%). Ultrasound findings revealed that gallbladder wall edema (48%), pleural effusion (44%), and ascites (50%) were significantly associated with severe dengue and dengue with warning signs (p&lt;0.001). Thrombocytopenia was documented in 58% of cases and correlated significantly with ultrasound abnormalities such as gallbladder wall edema, ascites, and pleural effusion (p=0.0017).Conclusion: Ultrasound findings, such as gallbladder wall edema, pleural effusion and ascites, are significantly associated with severe dengue and dengue with warning signs. These features aid in early identification of high-risk patients.

Ultrasound assessment of Achilles enthesitis: a dedicated training program.

To describe an intensive and multimodal ultrasound (US) training program focused on Achilles enthesitis and to illustrate the learning curve of trainees without experience. Three medical students (trainees) and two rheumatologists experienced in musculoskeletal US (trainers) were involved in the training program, which encompassed one preliminary theoretical-practical meeting and five scanning sessions (two patients per session). The students and one expert performed the US examination of the Achilles enthesis bilaterally. The trainees acquired representative images and assessed the presence of Outcome Measures in Rheumatology (OMERACT) US abnormalities of enthesitis. The experts provided feedback addressing trainees' misinterpretations, and the quality of the acquired images was evaluated. A dedicated questionnaire was used to evaluate the students' confidence. After each session, five sets of static images (total=100 images of most commonly scanned entheses) were provided and scored by the students according to OMERACT US definitions. Total agreement and prevalence and bias adjusted kappa (PABAK) were used to evaluate the concordance between the trainees and the expert sonographer. The total agreement and PABAK significantly improved between the first and fifth scanning sessions (76.2% versus 92.9%, p<0.01, and 0.5 versus 0.79, p<0.01) and between the first and fifth static image sets (64.5% versus 81.9%, p<0.01, and 0.29 versus 0.74, p<0.01). Image quality did not significantly improve (p=0.34). A significant increase in trainees' confidence was registered (p<0.01). The described training program rapidly improved the students' performance in the US assessment of Achilles enthesitis, appearing to be an effective starting model for the future development of pathology-oriented teaching programs for the US in rheumatology.

Associations between Fetal Symptoms during Pregnancy and Neonatal Clinical Complications with Toxoplasmosis.

Toxoplasmosis is a parasitism transmitted by Toxoplasma gondii, part of the TORCH complex, the most prevalent parasitism worldwide. It is asymptomatic in immunocompetent individuals but causes severe infections and developmental abnormalities in pregnant women, mainly affecting the central nervous system and the gastrointestinal system. In our prospective study, we analyzed cases of recent maternal Toxoplasma infections confirmed by serological testing between 1996 and 2020 at the Department of Obstetrics and Gynecology, Semmelweis University. Amniocentesis, followed by PCR, was performed in cases of recent infection confirmed by serological testing during pregnancy. After birth, a neonatological, microbiological, pediatric neurological and ophthalmological examination and a follow-up was carried out. During the study period, a total of 238 cases of amniotic fluid Toxoplasma PCR testing due to Toxoplasma recent infection were performed. In terms of pregnancies, there were 219 deliveries and seven abortions. Twelve cases had no data available on the outcome of the pregnancy. In total, 133 cases of ultrasound abnormalities were detected during pregnancy, while in 105 cases, no abnormalities were detected on ultrasound examination. During amniocentesis, eight cases of Toxoplasma infection were revealed in amniotic fluid samples by PCR, and in 230 cases, the result was negative. Neonatal follow-up was performed in 139 cases, with no abnormalities during follow-up in 117 cases, and in 22 cases, there was a detectable complication that was likely to be related to Toxoplasma infection. In all 22 cases, amniotic fluid PCR Toxoplasma testing was negative. The most common ultrasound abnormalities involve the nervous system and the gastrointestinal system. In cases of suspicion, it is recommended to perform amniocentesis Toxoplasma PCR testing besides the indirect methods to help the pregnant woman decide whether to carry the pregnancy to term. During follow-up, a multidisciplinary team experienced in pregnancies complicated by toxoplasmosis must carry out the follow-up, care and subsequent development.