Comments and Illustrations of Ultrasound Findings in Extrapulmonary Tuberculosis Manifestations.

This review describes the appearance of extrapulmonary tuberculosis manifestations in comprehensive and multiparametric ultrasound imaging. The aim is to increase awareness of typical ultrasound findings regarding extrapulmonary tuberculosis, correlate those with pathological features, and facilitate differential diagnosis. Point of care ultrasound protocols can be used as a screening method in high-risk populations, although the negative findings do not exclude tuberculosis. Conversely, the diagnosis of extrapulmonary tuberculosis can never be made using ultrasound alone, as many ultrasound findings in extrapulmonary tuberculosis are non-specific. However, ultrasound-based sampling techniques can significantly facilitate the collection of samples for microbiological or molecular proof of tuberculosis, as well as facilitating the establishment of alternative diagnoses.

Multicystic Dysplastic Kidney Disease: An In-Utero Diagnosis.

Multicystic dysplastic kidney (MCDK) is a congenital cystic kidney disease that can be incidentally seen during the antenatal ultrasound. The condition is most commonly asymptomatic. The clinical presentation is usually characterized by multiple small cysts or a single dominating cyst in the fetal kidney depending on the type of MCDK. Most cases undergo spontaneous involution, and complications like hypertension, infection, and malignancy are rare. We present the case of a young Primigravida who was diagnosed to have a fetus with unilateral MCDK in the second trimester and further followed up later in pregnancy as well as four months postnatally. The pregnancy was unremarkable, but for the diagnosis of MCDK in the second trimester; the infant was doing well at the four-month follow-up. Pre-natal ultrasound and MRI are able to diagnose MCDK reliably. Conservative management and follow-up is currently the most common protocol used to manage MCDK.

Comments and illustrations of the WFUMB CEUS liver guidelines: Rare focal liver lesions - infectious (bacterial).

In this series of papers on comments and illustrations of the World Federation for Medicine and Biology (WFUMB) guidelines on contrast enhanced ultrasound (CEUS) the topics of bacterial infections are discussed. Improved detection and characterization of common focal liver lesions (FLL) are the main topics of these guidelines but detailed and illustrating information is missing. The focus in this paper on infectious (bacterial) focal liver lesions is on their appearance on B-mode and Doppler ultrasound and CEUS features. Knowledge of these data should help to raise awareness of these rarer findings, to think of these clinical pictures in the corresponding clinical situation, to interpret the ultrasound images correctly and thus to initiate the appropriate diagnostic and therapeutic steps in time.

Comments and illustrations of the WFUMB CEUS liver guidelines: Rare focal liver lesion - infectious parasitic, fungus.

In this series of papers on comments and illustrations of the World Federation for Medicine and Biology (WFUMB) guidelines on contrast enhanced ultrasound (CEUS) the topics of parasitic and fungus infections are discussed. Improved detection and characterization of common focal liver lesions (FLL) are the main topics of these guidelines but detailed and illustrating information is missing. The focus in this paper on infectious (parasitic and fungus) focal liver lesions is on their appearance on B-mode and Doppler ultrasound and CEUS features. Knowledge of these data should help to raise awareness of these rarer findings, to think of these clinical pictures in the corresponding clinical situation, to interpret the ultrasound images correctly and thus to initiate the appropriate diagnostic and therapeutic steps in time.

Incidental Findings of Gallbladder and Bile Ducts-Management Strategies: General Aspects, Gallbladder Polyps and Gallbladder Wall Thickening-A World Federation of Ultrasound in Medicine and Biology (WFUMB) Position Paper.

The World Federation of Ultrasound in Medicine and Biology (WFUMB) is addressing the issue of incidental findings with a series of position papers to give advice on characterization and management. The biliary system (gallbladder and biliary tree) is the third most frequent site for incidental findings. This first part of the position paper on incidental findings of the biliary system is related to general aspects, gallbladder polyps and other incidental findings of the gallbladder wall. Available evidence on prevalence, diagnostic work-up, malignancy risk, follow-up and treatment is summarized with a special focus on ultrasound techniques. Multiparametric ultrasound features of gallbladder polyps and other incidentally detected gallbladder wall pathologies are described, and their inclusion in assessment of malignancy risk and decision- making on further management is suggested.

Giant Right Atrial Aneurysm in an Infant.

Right atrial aneurysm (RAA) is a rare congenital anomaly with a diverse clinical spectrum. We present a case of antenatal detection of a giant RAA. The infant had 3 episodes of staring spells presumed to be thrombo-embolic phenomena originating from the RAA. The infant underwent successful RAA resection with preservation of the right coronary artery that was displaced from its usual position due to invagination of the RAA in the subepicardial space of the right atrio-ventricular groove.

Ascariasis, a review.

Ascariasis no longer widespread within Europe and so experience in diagnosis and treatment is limited for many specialists. On the other hand, clinicians face increasing numbers of migrants from high prevalence countries and are therefore, challenged to update in this field of infectious diseases. Here we present imaging features and current knowledge of this infection.

Ultrasound and contrast-enhanced ultrasound (CEUS) in infective liver lesions.

Infektiöse fokale Leberläsionen (FLL) treten in der klinischen Praxis häufig auf, wobei bakterielle Leberabszesse die Hälfte ausmachen. Eine genaue Diagnose der FLL ist für die Auswahl der am besten geeigneten Therapie und zur Vorbeugung von Komplikationen unerlässlich. Ziel der aktuellen Arbeit ist es, den Nutzen von Ultraschall und kontrastmittelverstärktem Ultraschall (CEUS) zur Erkennung und Charakterisierung infektiöser Leberläsionen zu beschreiben.

Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report.

The THOC2 gene encodes THO complex subunit 2, a subunit of the Transcription-Export (TREX) complex which binds specifically to splice messenger ribonucleic acid (mRNAs) to facilitate mRNA export. Mutations in the THOC2 gene have been described to lead to X-linked mental retardation syndrome type 12/35 (XLMR-12/35) (MIM#300957). Here, we describe for the first time a recurrent arthrogryposis multiplex congenita phenotype (AMC) in two male fetuses in a family. Exome sequencing identified a novel pathogenic variation chrX: 122761817_122761820delTGAC (genome assembly GRCh37 format) or c.2482-1_2484delGTCA (as per Genbank transcript ID NM_001081550) in theTHOC2 gene. This variant affects the consensus acceptor splice site between intron 22 and exon 23. This is the most severe phenotype described in THOC2 gene-related disease till date. This case report expands the clinical phenotype of THOC2 gene related defects.

Guidelines and Good Clinical Practice Recommendations for Contrast Enhanced Ultrasound (CEUS) in the Liver - Update 2020 - WFUMB in Cooperation with EFSUMB, AFSUMB, AIUM, and FLAUS.

The present, updated document describes the fourth iteration of recommendations for the hepatic use of contrast enhanced ultrasound (CEUS), first initiated in 2004 by the European Federation of Societies for Ultrasound in Medicine and Biology (EFSUMB). The previous updated editions of the guidelines reflected changes in the available contrast agents and updated the guidelines not only for hepatic but also for non-hepatic applications.The 2012 guideline requires updating as previously the differences of the contrast agents were not precisely described and the differences in contrast phases as well as handling were not clearly indicated. In addition, more evidence has been published for all contrast agents. The update also reflects the most recent developments in contrast agents, including the United States Food and Drug Administration (FDA) approval as well as the extensive Asian experience, to produce a truly international perspective.These guidelines and recommendations provide general advice on the use of ultrasound contrast agents (UCA) and are intended to create standard protocols for the use and administration of UCA in liver applications on an international basis to improve the management of patients.

Guidelines and Good Clinical Practice Recommendations for Contrast-Enhanced Ultrasound (CEUS) in the Liver-Update 2020 WFUMB in Cooperation with EFSUMB, AFSUMB, AIUM, and FLAUS.

The present, updated document describes the fourth iteration of recommendations for the hepatic use of contrast-enhanced ultrasound, first initiated in 2004 by the European Federation of Societies for Ultrasound in Medicine and Biology. The previous updated editions of the guidelines reflected changes in the available contrast agents and updated the guidelines not only for hepatic but also for non-hepatic applications. The 2012 guideline requires updating as, previously, the differences in the contrast agents were not precisely described and the differences in contrast phases as well as handling were not clearly indicated. In addition, more evidence has been published for all contrast agents. The update also reflects the most recent developments in contrast agents, including U.S. Food and Drug Administration approval and the extensive Asian experience, to produce a truly international perspective. These guidelines and recommendations provide general advice on the use of ultrasound contrast agents (UCAs) and are intended to create standard protocols for the use and administration of UCAs in liver applications on an international basis to improve the management of patients.

Review of Dancing Parasites in Lymphatic Filariasis.

Lymphatic filariasis is an infection transmitted by blood-sucking mosquitoes with filarial nematodes of the species Wuchereria bancrofti, Brugia malayi und B. timori . It is prevalent in tropical countries throughout the world, with more than 60 million people infected and more than 1 billion living in areas with the risk of transmission. Worm larvae with a length of less than 1 mm are transmitted by mosquitoes, develop in human lymphatic tissue to adult worms with a length of 7-10 cm, live in the human body for up to 10 years and produce millions of microfilariae, which can be transmitted further by mosquitoes. The adult worms can be easily observed by ultrasonography because of their size and fast movements (the so-called "filarial dance sign"), which can be differentiated from other movements (e. g., blood in venous vessels) by their characteristic movement profile in pulsed-wave Doppler mode. Therapeutic options include (combinations of) ivermectin, albendazole, diethylcarbamazine and doxycycline. The latter depletes endosymbiotic Wolbachia bacteria from the worms and thus sterilizes and later kills the adult worms (macrofilaricidal or adulticidal effect).

Ascariasis imaging: pictorial essay.

Ascariasis is not widespread in Europe, and the knowledge on how to diagnose and treat the disease is limited to some specialists. On the other hand, clinicians are facing an increasing number of immigrants from high-prevalence countries and are, therefore, challenged to update in this field of infectious diseases. Here we present current knowledge on this infection in 2 parts. The first part discusses clinical features and hot topics in ascariasis, and the second part presents imaging features of ascariasis as a pictorial essay.

Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.

OBJECTIVE: Robinow syndrome (RS) is an extremely rare genetic disorder characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. Mutations in the ROR2 gene cause autosomal recessive RS (RRS) whereas mutations in WNT5A are responsible for the autosomal dominant (AD) form of RS. In AD Robinow patients, oral manifestations are more prominent, while hemivertebrae and scoliosis rarely occur and facial abnormalities tend to be milder. METHODS: Three unrelated patients from different parts of India were studied. These patients were diagnosed as RRS due to presence of characteristic fetal facies, mesomelia, short stature, micropenis, hemivertebrae and rib abnormalities. One of the patients had fetal facies and micropenis but unusually mild skeletal features. This patient's mother had mild affection in the form of short stature and prominent eyes. Testosterone response to human chorionic gonadotropin was investigated in two patients and were normal. The exons and exon-intron boundaries of the ROR2 gene were sequenced for all probands. Bioinformatics analysis was done for putative variants using SIFT, PolyPhen2 and Mutation Taster. RESULTS: Patients 1, 2 and 3 were homozygous for c.G545A or p.C182Y in exon 5, c.227G>A or p.G76D in exon 3 and c.668G>A or p.C223Y in exon 6 respectively. Prenatal diagnosis could be performed in an ongoing pregnancy in one family and the fetus was confirmed to be unaffected. CONCLUSION: ROR2 mutations were documented for the first time in the Indian population. Knowledge of the molecular basis of the disorder served to provide accurate counseling and prenatal diagnosis to the families.

Biliary fascioliasis: Management in a child using endoscopic retrograde cholangio pancreatography.

A 9-year-old boy presented with right upper abdominal pain and fever. The radiologic investigations revealed multiple cholangitic abscesses with cholangitis and worms in common bile duct. Endoscopic retrograde cholangio pancreatographic (ERCP) sphincterotomy, basketing, ballooning and extraction of Fasciola hepatica worms from the common bile duct were done.

Guidelines and good clinical practice recommendations for Contrast Enhanced Ultrasound (CEUS) in the liver - update 2012: A WFUMB-EFSUMB initiative in cooperation with representatives of AFSUMB, AIUM, ASUM, FLAUS and ICUS.

Initially, a set of guidelines for the use of ultrasound contrast agents was published in 2004 dealing only with liver applications. A second edition of the guidelines in 2008 reflected changes in the available contrast agents and updated the guidelines for the liver, as well as implementing some non-liver applications. Time has moved on, and the need for international guidelines on the use of CEUS in the liver has become apparent. The present document describes the third iteration of recommendations for the hepatic use of contrast enhanced ultrasound (CEUS) using contrast specific imaging techniques. This joint WFUMB-EFSUMB initiative has implicated experts from major leading ultrasound societies worldwide. These liver CEUS guidelines are simultaneously published in the official journals of both organizing federations (i.e., Ultrasound in Medicine and Biology for WFUMB and Ultraschall in der Medizin/European Journal of Ultrasound for EFSUMB). These guidelines and recommendations provide general advice on the use of all currently clinically available ultrasound contrast agents (UCA). They are intended to create standard protocols for the use and administration of UCA in liver applications on an international basis and improve the management of patients worldwide.

Fetal echocardiography.

USG performed with a high-end machine, using a good cine-loop facility is extremely helpful in the diagnosis of fetal cardiac anomalies. In fetal echocardiography, the four-chamber view and the outflow-tract view are used to diagnose cardiac anomalies. The most important objective during a targeted anomaly scan is to identify those cases that need a dedicated fetal echocardiogram. Associated truncal and chromosomal anomalies need to be identified. This review shows how fetal echocardiography, apart from identifying structural defects in the fetal heart, can be used to look at rhythm abnormalities and other functional aspects of the fetal heart.

Sonographic diagnosis of inferior mesenteric artery aneurysm and marginal artery of Drummond.

We report the case of a patient in whom sonographic examination revealed an aneurysm of the inferior mesenteric artery with severe proximal stenosis and poststenotic dilatation--the enlargement of the proximal portion of the artery of Drummond. This collateral pathway should be kept in mind when studying bowel ischemia, especially when stenosis is present or when there is occlusion of the superior mesenteric artery.

Sonography in Budd-Chiari syndrome.

OBJECTIVE: The objective of this presentation is to provide an overview of sonographic manifestations of Budd-Chiari syndrome (BCS). METHODS: Patients were scanned with ultrasound systems using mainly a 2- to 5-MHz curvilinear transducer and in some patients a 5- to 12-MHz linear transducer. The patients were asked to fast from the previous night or for at least 6 hours. Color and spectral Doppler sonography was performed in all patients. RESULTS: Commonly seen findings in BCS include inferior vena cava (IVC) webs and thrombi, IVC narrowing, hepatic venous thrombosis, enlarged caudate lobes, ascites, intrahepatic or extrahepatic collaterals, monophasic to absent flow in the hepatic veins, and high flow velocities in areas of stenosis in the IVC or hepatic veins. Inferior vena cava stents used in the treatment of BCS could also be seen. CONCLUSIONS: Budd-Chiari syndrome is an uncommon disorder; outcome is poor in many cases; and the condition is often misdiagnosed or underdiagnosed. Sonography is a noninvasive and effective modality for diagnosis of BCS.