Pathological Ultrasound Findings Research Articles

Ultrasonographic Evaluation of the Ankle Joint in Relation to Rheumatoid Factor Status and Disease Activity in Patients with Rheumatoid Arthritis

Abstract Background: Rheumatoid arthritis (RA) is a form of inflammatory disease whose clinical pattern is largely dependent on the presence of both anti-citrullinated protein antibodies and rheumatoid factor (RF). Although this is still debatable, seronegative RA seems to be a somewhat less serious condition. The present study aimed to evaluate ankle joint ultrasound in relation to RF status and disease activity in RA patients. Methods: A cross-sectional study involving RA patients from a single center was conducted. Laboratory test evaluations and clinical activity assessments were carried out. The ankle joint was examined using musculoskeletal ultrasound (US). Results: The study included 100 patients with established RA in total. Eighty-two patients tested positive for RF with a mean age of 42.3, whereas only 18 tested negative with a mean age of 39.6. Patients who tested positive for RF had a longer duration of illness (9.39 ± 5.39 vs. 4.56 ± 3.24). There were no differences in clinical activity scores between the seropositive and seronegative groups. The pathological US findings of any ankle joint showed no differences between the seropositive and seronegative groups. Patients with US findings of tibialis posterior tenosynovitis in the left ankle and synovitis and erosion in the right ankle, particularly in the tibiotalar and talonavicular joints, had significantly high Disease Activity Score 28-Erythrocyte sedimentation rate-scores. The increased disease activity was accompanied by significant erosions on both ankles. Conclusion: In terms of disease activity, there is no clinically significant difference between seropositive and seronegative RA patients. Sonographic ankle joint abnormalities do not appear to be associated with the patients’ RF status. High RA disease activity, on the other hand, is associated with synovitis and erosions, particularly in the talonavicular and tibiotalar joints, as well as tibialis posterior tenosynovitis.

Ultrasound of the Ulnar Nerve: A Pictorial Review: Part 2: Pathological Ultrasound Findings.

This is the second part of a two-part article in which we focus on the ultrasound (US) appearance of the pathological ulnar nerve (UN) and its main branches. Findings in a wide range of our pathological cases are presented with high-resolution US images obtained with the latest-generation US machines and transducers.

Ultrasound Changes in Salivary Glands after Radioactive Iodine Treatment in Benign Diseases and Differentiated Cancer of Thyroid Glands in Consideration of Dose and Time Dependency.

To assess ultrasound (US) features observed in salivary glands after radioactive iodine treatment (RAIT) in relation to the dose and time interval after RAIT. A retrospective analysis of US findings regarding the salivary glands of patients presenting after RAIT due to thyroid cancer (Group 1, n=99) or benign thyroid diseases (Group 2, n=25). The control group consisted of randomly selected patients (no RAIT, Group 3, n=100). Groups were compared regarding RAIT dose, symptoms, and US findings (duct dilation, hypoechoic/heterogeneous parenchyma, parenchymal loss). The association of the presence of US parameters after RAIT with various dose levels (2000-15000MBq) and time intervals (24, 60, 120 months) and the differences between the groups was evaluated. Significant differences between US parameters were noted when comparing Group 1 with Group 2 or 3. Nothing of relevant significance was noted when Groups 2 and 3 were compared. US features indicating a slight or moderate sialadenitis showed the most significant associations with doses <4000MBq and time intervals <24 months after RAIT. US changes indicating a serious sialadenitis or even gland atrophy showed the most significant association at doses between >7000-9000MBq and when US was performed >60 months after RAIT. Our results point to a dose and time dependency of pathologic US findings in RAIT-induced effects on the major salivary glands. Based on the US findings, a better estimation of the current impact of RAIT on the salivary glands and the further prognosis appears possible.

Ultrasound of the plantar foot: a guide for the assessment of plantar intrinsic muscles.

Plantar intrinsic muscles play a pivotal role in posture control and gait dynamics. They help maintain the longitudinal and transverse arches of the foot, and they regulate the degree and velocity of arch deformation during walking or running. Consequently, pathologies affecting the plantar intrinsic muscles (for instance, acquired and inherited neuropathies) lead to foot deformity, gait disorders, and painful syndromes. Intrinsic muscle malfunctioning is also associated with multifactorial overuse or degenerative conditions such as pes planus, hallux valgus, and plantar fasciitis. As the clinical examination of each intrinsic muscle is challenging, ultrasound is gaining a growing interest as an imaging tool to investigate the trophism of these muscular structures and the pattern of their alterations, and potentially to follow up on the effects of dedicated rehabilitation protocols. The ten plantar intrinsic muscles can be dived into three groups (medial, central and lateral) and four layers. Here, we propose a regional and landmark-based approach to the complex sonoanatomy of the plantar intrinsic muscles in order to facilitate the correct identification of each muscle from the superficial to the deepest layer. We also summarize the pathological ultrasound findings that can be encountered when scanning the plantar muscles, pointing out the patterns of alterations specific to certain conditions, such as plantar nerves mononeuropathies.

Biometry and pathological ultrasound findings in multiple pregnancies

Resumen Objetivos: el objetivo del estudio fue determinar la prevalencia de los hallazgos patológicos ecográficos en embarazos múltiples de acuerdo con la corionicidad en dos instituciones en Bogotá-Colombia. Métodos: estudio de cohorte, descriptivo, retrospectivo. Las variables biométricas realizadas y los hallazgos patológicos se evaluaron de acuerdo con el tipo de embarazo gemelar. Se realizó caracterización estadística con frecuencias absolutas, cálculo de frecuencias relativas en variables cualitativas, medidas de desviación estándar, mediana y rango intercuartílico. Además, se realizó análisis descriptivo de la información. Resultados: se realizaron 528 estudios en 141 gestantes, encontrando 98,5% (n=139) gemelares y 1,4% (n=2) triples. Se calculó una prevalencia de 35,4% de complicaciones fetales siendo más frecuente la restricción del crecimiento fetal (p=0,37). Según la corionicidad, esta complicación se presentó en 50% (1/2) de los tricoriónicos, 16,6% (7/42) de los monocoriónicos y 11,3% (11/97) de los dicoriónicos. Conclusión: la restricción del crecimiento fetal fue el hallazgo más común en los embarazos múltiples en la población estudiada.

Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies

The scope of cell-free DNA (cfDNA) testing was expanded to the genome, which allowed screening for rare chromosome anomalies (RCAs). Since the efficiency of the test for RCAs remains below the common aneuploidies, there is a debate on the usage of expanded tests. This study focuses on the confirmatory and follow-up data of cases with positive cfDNA testing for RCAs and cases with screen-negative results in a series of 912 consecutive cases that underwent invasive testing following cfDNA testing. Chorion villus sampling (CVS), amniocentesis (AS), fetal blood sampling, and term placenta samples were investigated using classical cytogenetic and molecular cytogenetic techniques. Out of 593 screen-positive results, 504 (85%) were for common aneuploidies, 40 (6.7%) for rare autosomal trisomies (RATs), and 49 (8.3%) for structural chromosome anomalies (SAs). Of the screen-positives for RATs, 20 cases were evaluated only in fetal tissue, and confined placental mosaicism (CPM) could not be excluded. Among cases with definitive results (n = 20), the rates of true positives, placental mosaics, and false positives were 35%, 45%, and 10%, respectively. Among screen-positives for SAs, 32.7% were true positives. The confirmation rate was higher for duplications than deletions (58.3% vs. 29.4%). The rate of chromosomal abnormality was 10.9% in the group of 256 screen-negatives with pathological ultrasound findings. This study provides further data to assess the efficiency of expanded cfDNA testing for RATs and SAs. The test efficiency for cfDNA seems to be higher for duplications than for deletions, which is evidence of the role of expert ultrasound in identifying pregnancies at increased risk for chromosome anomalies, even in pregnancies with screen-negatives. Furthermore, we discussed the efficiency of CVS vs. AC in screen-positives for RATs.

Diagnosing complications following cochlear implantation using transcutaneous ultrasound

PurposeThe aim of this study was to investigate the feasibility and reliability of transcutaneous ultrasound for the detection of complications after cochlear implantation.MethodsIn a single center retrospective cohort study, 115 consecutive cases of suspected complications after cochlear implantation (intervention group) were examined. The rate of pathologic ultrasound findings for specific leading symptoms and diagnoses was compared to a control group comprising twenty consecutive cochlear implants in symptom-free patients.ResultsDiagnostic ultrasound showed distinctly more pathologic findings in the intervention group (n = 67; 58.3%; p < 0.001) compared to the control group (n = 1; 5%). Ultrasound revealed significantly more pathologic findings in haematoma or seroma around the implant (n = 17; 100%; p < 0.001; ϕ = 0.94) and magnet dislocation (n = 44; 97.7%; p < 0.001; ϕ = 0.92) confirmed by a strong effect. Ultrasound examination showed a medium to high effect size in patients presenting with local infections (n = 3; 21.4%; p = 0.283; ϕ = 0.25) and skin flap oedema (n = 2; 50%; p = 0.061; ϕ = 0.51). In contrast, ultrasound examinations displayed a low effect size in undefined cephalgia (0%; p = 0.444; ϕ = 0.17) and device malfunction or failure (0%; p > 0.999; ϕ = 0.13).ConclusionTranscutaneous ultrasound can be advocated as a feasible and effective method in the diagnostic work-up of magnet dislocation and haematoma or seroma around the implant following cochlear implantation. Contrary, ultrasound findings can be expected to be inconspicuous in patients presenting with undefined cephalgia and device malfunction or failure.

The Value of Lung Ultrasound to Detect the Early Pleural and Pulmonary Pathologies in Nonhospitalized COVID-19-Suspected Cases in a Population With a Low Prevalence of COVID-19 Infection: A Prospective Study in 297 Subjects.

ObjectivesThis prospective study aimed to evaluate the value of B‐mode lung ultrasound (LUS) for the early diagnosis of coronavirus disease 2019 (COVID‐19) infection in nonhospitalized COVID‐19 suspected cases in a population with a low prevalence of disease.MethodsFrom April 2020 to June 2020, in an ambulatory testing center for COVID‐19‐suspected cases, 297 subjects were examined by LUS before a nasopharyngeal swab was taken for a reverse transcription polymerase chain reaction (RT‐PCR) test. The following LUS findings were defined as pathological ultrasound findings and were analyzed: the presence of 1) pleural effusion, 2) B‐lines, 3) fragmented visceral pleura, 4) consolidation, and 5) air bronchogram in the consolidation. The LUS findings were compared with the RT‐PCR test results.ResultsThe result of the RT‐PCR test for severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) was positive in 11 and negative in 286 subjects, and the prevalence of COVID‐19 infection in the study participants was 3.7%. On LUS, a pathological finding could be detected in 56/297 (18.9%) study participants. The LUS revealed a sensitivity of 27.3%, a specificity of 81.5%, a positive predictive value of 5.4%, a negative predictive value of 96.7%, and a diagnostic accuracy of 79.9% for the identification of COVID‐19 infection.ConclusionsFor the identification of COVID‐19 infection, LUS is highly sensitive to the patient spectrum and to the prevalence of the disease. Due to the low diagnostic performance in nonhospitalized COVID‐19 cases in low‐prevalence areas, LUS cannot be considered to be an adequate method for making a diagnosis in this group.

Entheseal involvement of the lower extremities in gout: an ultrasonographic descriptive observational study.

The aim of this study was to explore the prevalence and distribution of lower extremity entheseal abnormities by musculoskeletal ultrasound (US) in a cohort of gout patients, taking spondyloarthritis (SpA) patients and asymptomatic hyperuricemia (HUA) patients as controls. One hundred participants with gout, fifty patients with SpA, and twenty-nine patients with asymptomatic HUA were recruited. US was used to assess the bilateral quadriceps, patellar and Achilles tendons, and plantar fascia entheses according to the Outcome Measures in Rheumatology (OMERACT) definitions. The US examination revealed the presence of one or more abnormalities in at least one enthesis in 45 out of 100 subjects (45.0%) and 152 out of 1000 entheses (15.2%) in the gout patients. Among the affected entheses, the patellar insertion of the quadriceps tendon was the most commonly involved area (38.0% in the gout patients versus 48.0% in the SpA patients with at least one pathological US finding, p = 0.241). There were no significant group differences in entheseal power Doppler (PD) signals, bone erosion, or enthesophytes. The patients with lower limb entheseal involvement in the gout group had an older age, longer disease duration, higher percentage of chronic tophaceous gout, and higher levels of inflammatory biomarkers of the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). Multivariate logistic regression analysis revealed that age (OR = 1.052, p = 0.001) and the ESR (OR = 1.023, p = 0.028) were correlated with lower limb enthesopathy in gout patients. In the subgroup analysis of gout patients without active inflammation, age (OR = 1.119, p = 0.001) and serum uric acid (UA, OR = 1.012, p = 0.002) were correlated with lower limb enthesopathy in gout. Lower extremity entheseal involvement might be neglected but should be considered as an important element in the evaluation of gout patients. Enthesopathy most frequently involves in the patellar insertion of the quadriceps tendon and is characterized by entheseal hypoechogenicity and/or thickening. Key Points • Lower extremity enthesopathy might be neglected as an important element in gout. • Enthesopathy is most frequently involved in the patellar insertion of the quadriceps tendon in gout. • Age and ESR are correlated with lower limb enthesopathy in gout patients.

Bowel wall thickening and hyperemia assessed by high-frequency ultrasound indicate histological inflammation in Crohn\u2019s ileitis

PurposeWe evaluated ileal bowel wall thickness and semiquantitative vascularization by ultrasound in correlation with the presence or absence of histopathological inflammation in patients with Crohn’s disease (CD).MethodsWe conducted a retrospective analysis of 221 ultrasound examinations of the terminal ileum or neoterminal ileum in CD patients with biopsies of the ileum during colonoscopies within 8 weeks of the ultrasound. Ultrasound data were obtained from an inflammatory bowel disease ultrasound register from 2011 to 2017. Bowel wall ultrasound was performed by a high-frequency, linear transducer (7–12 MHz). Presence of bowel wall thickening (> 3 mm), vascularization by the Limberg score, and presence of ileal histopathological inflammation were analyzed.ResultsIn 221 bowel wall ultrasound examinations of CD patients (128 female, 93 male, mean age 37.5 years), a thickened bowel wall was found in 140 (63.3%) and hypervascularization (corresponding to a Limberg score ≥ 2) in 96 (43.4%) cases. In 187 (84.6%) cases, ileal inflammation was confirmed by histopathology and in 34 (15.4%) cases no inflammation was shown. Bowel wall thickening showed a sensitivity of 70.1%, a negative predictive value (NPV) of 30.9%, a specificity of 73.5% and a positive predictive value (PPV) of 93.6% for the detection of histopathological ileal inflammation. Hypervasularization had a low sensitivity (49.7%) and NPV (24.8%), but high specificity (91.2%) and PPV (96.9%).ConclusionIn this CD subcohort of an ultrasound register, pathologic ultrasound findings were quite common. Bowel wall thickening (> 3 mm) and hypervascularization are good predictors of histopathological inflammation within the terminal ileum or neoterminal ileum. Normal ultrasound findings without bowel wall thickening and without hypervascularization do not rule out histopathological inflammation.

Lung ultrasound findings in patients with novel SARS-CoV-2.

BackgroundOver 2 million people worldwide have been infected with severe acute respiratory distress syndrome-coronavirus-2 (SARS CoV-2). Lung ultrasound has been proposed to diagnose and monitor it, despite the fact that little is known about the ultrasound appearance due to the novelty of the illness. The aim of this manuscript is to characterise the lung ultrasonographic appearance of critically ill patients with SARS-CoV-2 pneumonia, with particular emphasis on its relationship with the time course of the illness and clinical parameters.MethodsAdult patients from the intensive care unit of two academic hospitals who tested positive for SARS-CoV-2 were included. Images were analysed using internationally recognised techniques which included assessment of the pleura, number of B-lines, pathology in the PLAPS (posterolateral alveolar and/or pleural syndrome) point, bedside lung ultrasound in emergency profiles, and the lung ultrasound score. The primary outcomes were frequencies, percentages and differences in lung ultrasound findings overall and between short (≤14 days) and long (>14 days) durations of symptoms and their correlation with clinical parameters.ResultsIn this pilot observational study, 61 patients were included with 76 examinations available for analysis. 26% of patients had no anterior lung abnormalities, while the most prevalent pathological ultrasound findings were thickening of the pleura (42%), ≥3 B-lines per view (38%) and presence of PLAPS (74%). Patients with “long” duration of symptoms presented more frequently with a thickened and irregular pleura (32 (21%) versus 11 (9%)), C-profile (18 (47%) versus 8 (25%)) and pleural effusion (14 (19%) versus 3 (5%)), compared to patients with short duration of symptoms. Lung ultrasound findings did not correlate with arterial oxygen tension/inspiratory oxygen fraction ratio, fluid balance or dynamic compliance.ConclusionSARS-CoV-2 results in significant, but not specific, ultrasound changes, with decreased lung sliding, thickening of the pleura and a B-profile being the most commonly observed. With time, a thickened and irregular pleura, C-profile and pleural effusion become more common findings. When screening patients, a comprehensive ultrasound protocol might be necessary.

Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities

BackgroundCordocentesis in our practice is most commonly indicated for rapid karyotyping in the second or third trimester and is regarded as the gold standard for foetal chromosomal aberration diagnosis in pregnancies at high risk for chromosomal abnormalities. In this study, we investigated 3387 umbilical cord blood samples for karyotyping from pregnant women who underwent cordocentesis and explored the pregnancy outcomes of foetal sex chromosome mosaicism and chromosomal polymorphism.ResultsOut of the 3387 samples, 182 abnormal karyotypes were detected. Ultrasound soft markers were the most common prenatal diagnostic indication, but the detection rate of abnormal karyotypes was 2.02%, while it was 46.97% in the genome-wide NIPT-positive group. The rate of aneuploidy was lower in the soft marker group than in the other groups. Out of 16 cases with sex chromosome mosaicism, three pregnant women with foetuses with a lower proportion of sex chromosome mosaicism delivered healthy foetuses; the foetus with karyotype 46,X,i(Y)(q10)[20]/45,X[6] showed unclear genitals. Three foetuses with chromosomal polymorphisms had postnatal disorders.ConclusionsNIPT should not be recommended as the first-tier screening for chromosomal aberration for pregnancies with ultrasound soft markers or pathological ultrasound findings, but NIPT can be considered an acceptable alternative for pregnancies with contraindications to cordocentesis or the fear of procedure-related foetal loss. Mosaicism found in amniotic fluid cell culture requires further cordocentesis for karyotype confirmation, and the continuation of pregnancy is safe when a normal karyotype is identified in foetal blood culture. Further genetic testing and parental karyotype analysis are needed for foetal chromosomal polymorphisms.

Analyses of pathological cranial ultrasound findings in neonates that fall outside recent indication guidelines: results of a population-based birth cohort: survey of neonates in Pommerania (SNiP-study)

BackgroundRecent guidelines recommend a cranial ultrasound (CU) in neonates born at < 30 weeks gestation, admitted to the neonatal intensive care unit (NICU), or with a CU indication. Here, we addressed the need to extend these recommendations.MethodsWe retrospectively reviewed 5107 CUs acquired in the population-based Survey of Neonates in Pomerania, conducted in 2002 to 2008. Neonates with conspicuous CUs that were ≥ 30 weeks gestation without recent indications for CU were identified and assigned to the following groups: with (I) or without (II) admission to neonatal care. We designated CU conspicuities as mild (MC) or significant (SC), and we investigated related neurodevelopment during follow-up.ResultsOf 5107 neonates, 5064 were born at ≥30 weeks gestation and of those, 4306 received CUs without any indication for this examination. We found conspicuities in 7.7% (n = 47/610) of group I (n = 30 MC, n = 17 SC), and 3.2% (n = 117/3696) of group II (n = 100 MC, n = 17 SC). In group II, SC comprised, e.g., bilateral cysts, partial agenesis of the corpus callosum, and periventricular leukomalacia. Follow-up was available in 75% of infants in group II with MCs and SCs; of these, 12.8% had an abnormal neurological follow-up.ConclusionsWe detected a high number of conspicuities in neonates without a CU indication. However, we could not demonstrate that ultrasound findings were associated with the neurological follow-up or any advantage to an earlier diagnosis. Our data did not support extending current guidelines or a general CU screening policy for all neonates.

Focused ultrasound to diagnose HIV-associated tuberculosis (FASH) in the extremely resource-limited setting of South Sudan: a cross-sectional study

ObjectiveOur cross-sectional study aimed at evaluating the diagnostic performance of Focused Assessment with Sonography for HIV-associated tuberculosis (FASH) to detect extrapulmonary tuberculosis in extremely resource-limited settings, with visceral leishmaniasis as...

Abdominal Ultrasound Does Not Reveal Significant Alterations in Patients With Nonceliac Wheat Sensitivity.

The goal of this study was (A) to evaluate abdominal ultrasound signs in nonceliac wheat sensitivity (NCWS) patients for features useful in diagnosis and (B) to compare these aspects with those of celiac patients to assess whether ultrasound can be useful in the differential diagnosis between NCWS and celiac disease (CD). NCWS diagnosis is difficult as no biomarkers of this condition have as yet been identified. In CD ultrasound aspects have been identified that have a good diagnostic accuracy. We prospectively recruited 45 NCWS patients (11 males, 34 females; mean age 35.7 y). Three control groups were included: (A) 99 age-matched CD patients; (B) 18 patients with seronegative CD; (C) 50 patients with irritable bowel syndrome (IBS) who did not improve on a wheat-free diet. NCWS diagnosis was confirmed on the basis of an elimination diet and double-blind placebo-controlled (DBPC) challenge. Ultrasound sign investigation included: dilatation of the small bowel loops, thickening of the small bowel wall, hyperperistalsis, enlarged mesenteric lymph nodes, ascites, hyposplenism, altered diameter of the portal vein. NCWS patients showed a low frequency of pathologic ultrasound findings. Dilated or thickened loops appeared more often in CD patients than in NCWS patients (88.8% vs. 20%; P<0.0001). These US signs were significantly more frequent in seronegative CD than in NCWS patients (both P<0.0001), whereas no difference was found between NCWS patients and IBS controls. In NCWS patients' ultrasound does not show a characteristic pattern which could be helpful for diagnosis. However, US can be useful to differentiate between NCWS and CD patients and especially those with seronegative CD. (ClinicalTrials.gov NCT03017274).

Cytogenetic Analysis for Fetal Chromosomal Abnormalities by Amniocentesis: Review of Over 40,000 Consecutive Cases in a Single Center

Background: The aim of this study was to retrospectively investigate the 18-year experience of prenatal diagnosis of fetal karyotype analysis by amniocentesis. Methods: In this study, the authors reviewed the cytogenetic results of 40,208 fetuses with indications for amniocentesis enrolled from December 1998 to December 2015. Cytogenetic analysis of amniotic fluid was performed in all these pregnancies. Eight indications for amniocentesis were included. The detection rate and distribution of abnormal karyotypes were observed in each indication. Results: Among all these samples, abnormal maternal serum screening test was the most common indication for amniocentesis (17,536, 43.67%), followed by advanced maternal age (11,734, 29.18%), abnormal ultrasound findings (5,328, 13.25%), and required by pregnant women (2,557, 6.36%). Chromosomal abnormality was detected in 1,349 (3.36%) samples, 63.01% of the abnormalities were numerical, and 36.99% were structural. The detection rates of abnormal karyotype were 55.60% in one of the couple with chromosomal abnormality, 4.43% in the pregnant women with pathological ultrasound finding, 2.83% in the pregnant women with advanced age, and 2.73% in women with abnormal maternal serum screening tests. Of the fetuses with chromosome aberrations, 680 (50.41%) had trisomy 13, trisomy 18, or trisomy 21, and 138 (10.23%) had sex chromosome disorder. The other 531 abnormal samples included translocation, mosaicism, inversion, deletion, addition, and marker chromosome. Conclusions: Cytogenetic analysis, therefore, remained an effective approach to decrease the birth defects of fetuses with indications for amniocentesis. These results could provide meaningful suggestions for clinical genetic consulting and prenatal diagnosis.

Patients Presenting to the Emergency Unit with Gynaecological Lower Abdominal Pain, with and without Pathological Clinical Findings - Service Utilisation, Pain History, Implications.

Introduction: Few studies have evaluated the utilisation of emergency gynaecological services, although lower abdominal pain (LAP) is one of the most common symptoms prompting emergency presentation. Although such pain may be caused by potentially life-threatening gynaecological diseases, very often no clinical cause is found. The aim of this study was to describe the characteristics of emergency presentations in order to enable quicker identification of real emergencies in routine clinical practice. Materials and Methods: Standardised, so-called first aid cards of 1066 consecutive patients with LAP presenting acutely to one emergency unit were analysed in this retrospective, cross-sectional study. Results: Over one third of cases did not constitute actual medical emergencies on objective criteria, with investigations yielding "no pathological findings". Parameters were identified that more often lead to hospital admission, e.g. palpation of a mass/resistance or at least one pathological ultrasound finding. In addition, it was found that symptoms of longer duration (average 8 days), and not only acute LAP, were also often experienced by patients as emergencies. Conclusion: A diagnosis of "no pathological findings", which was common in our study, suggests a subjective experience of an emergency from the patient's point of view, although the possibility of unrecognised pathology has to be borne in mind. Apart from functional disorders, the origins of symptoms may include psychosomatic causes and psychosocial problems, which cannot be further defined in the emergency care setting. Also, the phenomenon of increased utilisation of emergency services parallel to the assumed opening hours of routine outpatient care facilities must be seen in a critical light.

Prenatal Invasive Fetal Karyotyping in the Era of First Trimester Screening And Noninvasive Prenatal Testing (NIPT)

Objective: To validate indications for invasive fetal karyotyping in the era of first trimester screening and non invasive prenatal testing. Materials and Methods: We conducted single centre retrospective study between 2009 and 2014. Patients were referred for either first trimester screening or second/ third trimester ultrasound screening. We included all women with invasive testing such as chorionicvilli sampling (CVS) or amniocentesis (AC). The indications for invasive testings were related to suspicious first trimester screening results and pathologic ultrasound findings. Fetal karyotypes and pregnancy outcomes were documented. Results: A total of 724 patients had an AC (69%) or CVS (31%), either. We detected 123 pathologic karyotypes (17%), i.e. 46 trisomy 21 cases, 24 trisomy 18 cases and four trisomy 13 cases. 601 fetuses had normal karyotypes (83 %). 63 pathologic karyotypes were diagnosed by AC (52%)and 60 by CVS(48%). The main indication for CVS was a suspicious first trimester screening (44%), whereas AC indications were maternal age, suspicious ultrasound findings or genetic indications (e.g. family history). From 189(27%) normal fetal karyotypes, 115 (60%) had an invasive testing due to suspicious biochemistry results. 36 fetuses (19%) had nuchal translucency (NT) measurements above 2.5 mm and 38 patients (21%) had a combined risk elevation. 60 of these cases had cut-off risks for invasive procedures by combined testing of less than 1:50. Conclusion: Fetal karyotyping is reasonable in high risk situations such as suspicious ultrasound findings in any time of pregnancies. Suspicious biochemistry results from first trimester screening alone may be followed by non-invasive testings (NIPT), especially in high risk pregnancies after ART.

Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report

Campomelic dysplasia is a rare disorder characterized by skeletal and extraskeletal defects. Up to two-thirds of affected XY individuals have a gradation of genital defects or may develop as phenotypic females. This syndrome is caused by alterations in SRY-related HMG-Box Gene 9 (SOX9), a transcription factor essential in both chondrocyte differentiation and sex determination. We report a 27-week fetus with ambiguous genitalia and upper and lower extremities bone malformations. Gross photographs, radiologic and pathological studies led the clinical diagnosis to campomelic dysplasia. A new frameshift mutation (p.Pro415Serfs*163) was identified in the SOX9 gene by genetic analysis. This mutation not only alters almost the entire sequence of the C-terminal transactivation (TA) domain of SOX9, but also enlarges it. This altered sequence does not resemble any other existing sequence. Since TA domain is entirely affected, SOX9 could not establish its normal function. The comparison between p.Pro415Serfs*163 and other frameshift mutations that enlarges SOX9 showed the same nucleotides added. This new sequence is not conserved either. We speculate that the fact of adding a sequence downstream of the C-terminal domain alters SOX9 and leads to campomelic dysplasia. The clinical information is essential not only to achieve a correct diagnosis in fetuses with pathologic ultrasound findings, but also to offer a proper genetic counseling.

Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis

We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype analysis of amniotic fluid was performed on 12365 pregnant women with indications for genetic amniocentesis. The detection rates and distributions of abnormal karyotypes were observed in a variety of indications for genetic amniocentesis. The detection rates of abnormal karyotype were 57.4% in either a mother or father with chromosomal abnormality, 8.5% in the pregnant women with pathological ultrasound finding (PUF), 2.79% in the pregnant women with advanced age (35 years and over) and 2.23% in the women with abnormal maternal serum screening (MSS) tests. Foetal abnormal karyotype was found in 86 pregnant women with PUF; of the 86 pregnant women, 42 had trisomy 13, 18 or 21. Of the 12365 pregnant women, foetal abnormal karyotype was found in 428 (3.46%); of the 428 foetuses, only 154 had trisomy 13, 18 or 21. In the pregnant women with abnormal MSS, 111 foetuses had abnormal karyotype, but only 36 foetuses had trisomy 13, 18 or 21. We conclude that (1) ultrasound is an important approach to prevent the birth of foetuses with chromosomal disease. (2) Non-invasive prenatal DNA detection cannot completely replace invasive prenatal diagnosis and MSS. (3) The strategies of prenatal diagnosis: Genetic amniocentesis is strongly recommended for the pregnant women with indications for genetic amniocentesis. For pregnant women who refuse invasive prenatal diagnosis, non-invasive prenatal DNA detection is first performed. If the results of non-invasive prenatal DNA detection are negative, the pregnant women are followed up by ultrasound; if the results of non-invasive prenatal DNA detection are positive, the pregnant women should undergo invasive prenatal diagnosis.