-
International Journal of Surgery Case... Jun 2021Portal venous gas is a rare finding in adults and is typically associated with underlying intestinal ischemia. Portal venous gas can be detected by a bedside point of...
INTRODUCTION
Portal venous gas is a rare finding in adults and is typically associated with underlying intestinal ischemia. Portal venous gas can be detected by a bedside point of care ultrasound (POCUS) examination in adult patients in critical care units (CCU). Findings include echogenic bubbles flowing centrifugally throughout the portal venous system.
CASE PRESENTATION
We present the case of a 73-year-old female with advanced ischemic cardiomyopathy and cardiorenal syndrome who was managed in the CCU. She developed vague abdominal pain and respiratory depression requiring intubation and dialysis during her course of treatment in the CCU. Her findings were consistent with portal venous gas upon POCUS, prompting computed tomography of her abdomen and surgical consultation. She was ultimately found to have nonobstructive mesenteric ischemia.
CLINICAL DISCUSSION
PVG is an ominous radiological sign and reflects intestinal ischemia in up to 72% of cases. Acute mesenteric ischemia of the small bowel could be due to occlusive or nonocclusive obstruction of the arterial blood supply or obstruction of venous outflow. Nonocclusive obstruction accounts for 5% to 15% of patients with acute mesenteric ischemia.
CONCLUSION
With the increasing use of POCUS, critical care physicians should be aware of findings consistent with portal venous gas as a bedside tool for directing the treating physician toward an ominous diagnosis in patients with shock.
PubMed: 34022761
DOI: 10.1016/j.ijscr.2021.105974 -
American Journal of Perinatology May 2024This study aimed to develop an algorithm for pediatricians to use for infants diagnosed with fetal echogenic bowel (FEB) to ensure that each patient is fully...
OBJECTIVE
This study aimed to develop an algorithm for pediatricians to use for infants diagnosed with fetal echogenic bowel (FEB) to ensure that each patient is fully evaluated for possible complications while avoiding unnecessary morbidity and mortality and health care-associated costs.
STUDY DESIGN
This was a prospective cohort of neonates for which a diagnosis of FEB was made during a Level 2 anatomy ultrasound between February 2016 and January 2017. Women diagnosed with FEB were offered perinatal genetic counseling and testing. These women also received increased third trimester fetal surveillance, including daily fetal kick counts, fetal growth scans every 3 to 4 weeks beginning at 28 weeks, and weekly fetal nonstress test (NST) and/or BPP beginning at 32 weeks. After delivery, neonates received a postnatal evaluation including birth weight, gestational age at birth, presence of other abnormalities, and associated perinatal morbidity and mortality. Comparison between findings was performed using chi-square test. All statistical evaluation was performed using SPSS.
RESULTS
Among 919 pregnant patients who received Level 2 anatomy ultrasounds at a Regional Perinatal Center during the study period, 70 received a diagnosis of FEB. Of those diagnosed with FEB, 52 (74.3%) delivered at the same Regional Medical Center. Of these 52 delivered infants, 3 (5.8%) were intrauterine fetal demises (IUFDs) and 4 (7.6%) had unaffected twins. Only one multifetal gestation had the diagnosis of FEB in both the twins. Only 19 of the infants delivered had a kidney, ureter, and bladder X-ray (KUB) performed secondary to prematurity or abnormal exams.
CONCLUSION
This study showed that the majority of infants diagnosed with FEB had a normal exam following delivery, and that most of the neonatal outcomes of neonatal intensive care unit admissions and other neonatal complications are a result of prematurity rather than FEB. Although the algorithm did not have significant results, it is easy to follow and implement in larger studies.
KEY POINTS
· Majority of infants with FEB have a normal physical exam after delivery.. · Majority of neonatal outcomes evaluated were a result of prematurity rather than FEB.. · FEB is a soft marker for potential abnormalities and fetal morbidity/mortality..
PubMed: 38631388
DOI: 10.1055/a-2308-2151 -
Genes Apr 2021In families without a Cystic Fibrosis (CF) history, fetal ultrasound bowel abnormalities can unexpectedly reveal the disease. Isolated or in association, the signs can...
In families without a Cystic Fibrosis (CF) history, fetal ultrasound bowel abnormalities can unexpectedly reveal the disease. Isolated or in association, the signs can be fetal bowel hyperechogenicity, intestinal loop dilatation and non-visualization of fetal gallbladder. In these cases, search for CF transmembrane conductance regulator () gene mutations is part of the recommended diagnostic practices, with a search for frequent mutations according to ethnicity, and, in case of the triad of signs, with an exhaustive study of the gene. However, the molecular diagnosis remains a challenge in populations without well-known frequent pathogenic variants. We present a multiethnic cohort of 108 pregnancies with fetal bowel abnormalities in which the parents benefited from an exhaustive study of the gene. We describe the new homozygous p.Cys1410* mutation in a fetus of African origin. We did not observe the most frequent p.Phe508del mutation in our cohort but evidenced variants undetected by our frequent mutations kit. Thanks to the progress of sequencing techniques and despite the difficulties of interpretation occasionally encountered, we discuss the need to carry out a comprehensive study in all patients in case of fetal bowel abnormalities.
Topics: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Echogenic Bowel; Ethnicity; Female; Gene Frequency; Genetic Testing; Humans; Predictive Value of Tests; Pregnancy; Ultrasonography, Prenatal
PubMed: 33946859
DOI: 10.3390/genes12050670 -
Polish Journal of Radiology 2015Despite the widespread use of plain films to detect necrotizing enterocolitis (NEC), it is considered a time-consuming method, which exposes patients to radiation. We...
BACKGROUND
Despite the widespread use of plain films to detect necrotizing enterocolitis (NEC), it is considered a time-consuming method, which exposes patients to radiation. We aimed to assess changes in ultrasonographic variables and to compare sonograhy and chest radiography in detecting early stages of NEC in suspected premature infants.
MATERIAL/METHODS
This case-control study was carried out in the years 2012-2013. We enrolled 67 premature neonates using a simple sampling method and divided them into the study and control groups. All patients underwent plain abdominal radiography, gray-scale and color Doppler sonography.
RESULTS
34 and 33 neonates were assigned to the study and control groups. No significant gender differences were found between the two groups (P=0.549). The mean bowel wall thickness ranged from 1.2 to 3.2 mm in the control group (132 abdominal quadrants) and 1-3.3 mm in the study group (136 abdominal quadrants, P=0.502). Intra-mural echogenic dots were seen in one neonate in the study group in favour of pneumatosis intestinalis. The mean ±SD bowel wall perfusion in the study and control groups were 3.117±0.975 and 2.878±0.538 dots or lines/cm(2), respectively (P=0.218). One neonate in the study group showed internal echoes within the mild amount of free fluid. Twelve neonates in the control group had minimal amounts of intra-abdominal free fluid.
CONCLUSIONS
The two groups differed regarding bowel wall thickness, echogenicity, and perfusion in sonograhy and color Doppler evaluation. Although those differences were not statistically significant, considering the time-consuming nature of abdominal X-ray, the use of sonograhy and color Doppler can improve diagnosis and treatment of NEC as a triage method.
PubMed: 26150903
DOI: 10.12659/PJR.893876 -
American Journal of Medical Genetics.... May 2017Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare, X-linked recessive disease that affects regulatory T cells (Tregs) resulting in...
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare, X-linked recessive disease that affects regulatory T cells (Tregs) resulting in diarrhea, enteropathy, eczema, and insulin-dependent diabetes mellitus. IPEX syndrome is caused by pathogenic alterations in FOXP3 located at Xp11.23. FOXP3 encodes a transcription factor that interacts with several partners, including NFAT and NF-κB, and is necessary for the proper cellular differentiation of Tregs. Although variable, the vast majority of IPEX syndrome patients have onset of disease during infancy with severe enteropathy. Only five families with prenatal presentation of IPEX syndrome have been reported. Here, we present two additional prenatal onset cases with novel inherited frameshift pathogenic variants in FOXP3 that generate premature stop codons. Ultrasound findings in the first patient identified echogenic bowel, echogenic debris, scalp edema, and hydrops. In the second patient, ultrasound findings included polyhydramnios with echogenic debris, prominent fluid-filled loops of bowel, and echogenic bowel. These cases further broaden the phenotypic spectrum of IPEX syndrome by describing previously unappreciated prenatal ultrasound findings associated with the disease.
Topics: Adult; Cell Differentiation; Diabetes Mellitus, Type 1; Diarrhea; Female; Fetus; Forkhead Transcription Factors; Frameshift Mutation; Genetic Diseases, X-Linked; Humans; Immune System Diseases; Male; NF-kappa B; NFATC Transcription Factors; Pregnancy; T-Lymphocytes, Regulatory; Ultrasonography, Prenatal
PubMed: 28317311
DOI: 10.1002/ajmg.a.38144 -
Clinical Dysmorphology Apr 2021The proband, now a 4-year-old female of mixed Caucasian and Japanese ancestry, was born at 29 weeks gestation via spontaneous vaginal delivery following a pregnancy...
The proband, now a 4-year-old female of mixed Caucasian and Japanese ancestry, was born at 29 weeks gestation via spontaneous vaginal delivery following a pregnancy complicated by fetal ascites, echogenic bowel, polyhydramnios, and incompetent cervix. The mother had no other pregnancy complications and had no recognized teratogen exposures throughout the pregnancy. Her length was 37 cm (37 centile), weight was 1.478 kg (80 centile), and occipitofrontal circumference (OFC) was 27 cm (20 centile). The family history was significant for maternal family members with pregnancy losses of unknown etiology: one each for the mother and maternal grandmother. The great maternal grandmother reported at least 4 or 5 pregnancy losses. Consanguinity was denied. The proband remained in the neonatal intensive care unit for the next 8 months for management of severe respiratory issues, ascites and feeding difficulties. During that time, she underwent placement of a tracheostomy, a Denver (peritoneovenous) shunt for ascitic-fluid drainage, an intravenous port and a gastrostomy tube for feeds (Fig. 1). Additional pertinent findings then include retinopathy of prematurity, subglottal stenosis grade IV, hypothyroidism, 11 sets of ribs, mild bilateral hydronephrosis, accessory spleen and persistent ascites (Fig. 2). At 20 months dysmorphologic evaluation was significant for macrocephaly, open anterior and posterior fontanelles, bicoronal craniosynostosis on CT scan, right posterior plagiocephaly, brachycephaly, cupped and prominent ears with hypoplastic antihelices, broad forehead, a short and upturned nose, telecanthus, ocular hypertelorism, depressed nasal bridge (Figure 3A–B), moderate ascites, bilateral overriding of the second and fourth toes over the third toe, short stature and hypotonia. At this latter time, she exhibited significant developmental delays; she was unable to sit unassisted or feed herself. However, she was able to crawl, pull to a stand and sit independently. The proband could feed herself but still required a G-tube for much of her nutrition. She was nonverbal but able to use 12 signs. She continued to require a tracheostomy but only for night-time mechanical ventilation. At 33 months when last evaluated, her height was 79.2 cm (<1 centile), weight was 11.6 kg (7 centile) and OFC was 56 cm (>97 centile). The patient’s severe ascites persisted throughout the first 2 years of her life. At age 22 months, she underwent lymphatic imaging at the Children’s Hospital of Philadelphia that revealed multiple dilated perihepatic lymphatic vessels and leakage of contrast material into the peritoneum (Fig. 4A–D). Subsequently, she underwent successful embolization of these lymphatic vessels with resolution of her ascites.
Topics: Body Dysmorphic Disorders; Chromosome Duplication; Chromosomes, Human, Pair 4; Craniosynostoses; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Infant; Infant, Newborn; Lymphatic Abnormalities; Magnetic Resonance Imaging; Male; Phenotype
PubMed: 32925199
DOI: 10.1097/MCD.0000000000000347 -
BMC Pregnancy and Childbirth May 2014Improvement in ultrasound imaging has led to the identification of subtle non-structural markers during the 18 - 20 week fetal anomaly scan, such as echogenic bowel,...
The Welsh study of mothers and babies: protocol for a population-based cohort study to investigate the clinical significance of defined ultrasound findings of uncertain significance.
BACKGROUND
Improvement in ultrasound imaging has led to the identification of subtle non-structural markers during the 18 - 20 week fetal anomaly scan, such as echogenic bowel, mild cerebral ventriculomegaly, renal pelvicalyceal dilatation, and nuchal thickening. These markers are estimated to occur in between 0.6% and 4.3% of pregnancies. Their clinical significance, for pregnancy outcomes or childhood morbidity, is largely unknown. The aim of this study is to estimate the prevalence of seven markers in the general obstetric population and establish a cohort of children for longer terms follow-up to assess the clinical significance of these markers.
METHODS/DESIGN
All women receiving antenatal care within six of seven Welsh Health Boards who had an 18 to 20 week ultrasound scan in Welsh NHS Trusts between July 2008 and March 2011 were eligible for inclusion. Data were collected on seven markers (echogenic bowel, cerebral ventriculomegaly, renal pelvicalyceal dilatation, nuchal thickening, cardiac echogenic foci, choroid plexus cysts, and short femur) at the time of 18 - 20 week fetal anomaly scan. Ultrasound records were linked to routinely collected data on pregnancy outcomes (work completed during 2012 and 2013). Images were stored and reviewed by an expert panel.The prevalence of each marker (reported and validated) will be estimated. A projected sample size of 23,000 will allow the prevalence of each marker to be estimated with the following precision: a marker with 0.50% prevalence to within 0.10%; a marker with 1.00% prevalence to within 0.13%; and a marker with 4.50% prevalence to within 0.27%. The relative risk of major congenital abnormalities, stillbirths, pre-term birth and small for gestational age, given the presence of a validated marker, will be reported.
DISCUSSION
This is a large, prospective study designed to estimate the prevalence of markers in a population-based cohort of pregnant women and to investigate associations with adverse pregnancy outcomes. The study will also establish a cohort of children that can be followed-up to explore associations between specific markers and longer-term health and social outcomes.
Topics: Biomarkers; Choroid Plexus; Cohort Studies; Congenital Abnormalities; Cysts; Dilatation, Pathologic; Echogenic Bowel; Female; Femur; Gestational Age; Humans; Hydrocephalus; Infant, Small for Gestational Age; Kidney Calices; Medical Record Linkage; Pregnancy; Pregnancy Trimester, Second; Premature Birth; Prevalence; Research Design; Stillbirth; Ultrasonography, Prenatal; Wales
PubMed: 24884594
DOI: 10.1186/1471-2393-14-164 -
Ultrasound in Obstetrics & Gynecology :... Nov 2000To evaluate the extent that associated findings aid in the differential diagnosis and/or prognosis of fetal echogenic bowel.
OBJECTIVES
To evaluate the extent that associated findings aid in the differential diagnosis and/or prognosis of fetal echogenic bowel.
METHODS
Medical history, obstetric records and outcome details were examined for 131 consecutive pregnancies with fetal hyperechogenic bowel.
RESULTS
In 62 (47%) cases, there were no visible anomalies other than hyperechogenic bowel and no evidence of growth restriction. This group included four (7%) pregnancies with Down syndrome, 15 (24%) with infection or a recent episode of influenza and eight (13%) with blood staining of amniotic fluid. In the remaining 69 (53%) cases, hyperechogenic bowel was accompanied by hydrops or nuchal edema (n = 16, 12.2%), growth restriction (n = 9, 6.9%), other markers for chromosome anomalies (n = 33, 25.2%) or multiple structural anomalies (n = 11, 8.4%). In this group, the prevalence of Down syndrome was 12%, infection or influenza was reported in 14 (20%) cases and there was blood staining of amniotic fluid in seven (10%). Cystic fibrosis screening was performed in 65 (50%) pregnancies; the results were negative in all cases and clinical assessment did not indicate cystic fibrosis in any of the 91 infants who were born alive. Maternal serum screening was performed in 41 (31%) pregnancies. High alpha-fetoprotein levels were associated with multiple abnormalities or severe growth restriction.
CONCLUSIONS
In many pregnancies with fetal hyperechogenic bowel, there are multiple factors that may explain these findings. Thus identification of one potential underlying cause should not preclude further testing. Once chromosome defects, cystic fibrosis, structural abnormalities, infection and growth restriction have been excluded, parents can be counseled that the prognosis is good, irrespective of the presence or absence of blood stained amniotic fluid.
Topics: Adolescent; Adult; Amniotic Fluid; Diagnosis, Differential; Female; Fetal Diseases; Humans; Intestines; Pregnancy; Pregnancy Outcome; Pregnancy Trimester, Second; Prognosis; Risk Factors; Ultrasonography, Prenatal
PubMed: 11169344
DOI: 10.1046/j.1469-0705.2000.00241.x -
Taiwanese Journal of Obstetrics &... Jun 2010To present a prenatal diagnosis of congenital cytomegalovirus (CMV) infection in a pregnancy with fetal ascites.
Detection and comparison of cytomegalovirus DNA levels in amniotic fluid and fetal ascites in a second-trimester fetus with massive ascites, hyperechogenic bowel, ventriculomegaly and intrauterine growth restriction.
OBJECTIVE
To present a prenatal diagnosis of congenital cytomegalovirus (CMV) infection in a pregnancy with fetal ascites.
CASE REPORT
A 33-year-old, gravida 6, para 2, woman was referred to a hospital at 20 weeks of gestation for management of fetal ascites. The woman had not experienced recent rubella or herpes simplex infections. The maternal blood group was O and Rh(D)-positive. The maternal serum thalassemia and syphilis screen results were negative. Fetal ascites was first noted at 17 weeks of gestation. At 18 weeks, she underwent amniocentesis revealing a 46,XX karyotype. At 20 weeks of gestation, maternal serum CMV IgG and CMV IgM were positive. At 21 gestational weeks, prenatal ultrasound showed fetal ascites, hyperechogenic bowel, ventriculomegaly, and intrauterine growth restriction. Repeated amniocentesis showed CMV DNA levels of 9.72 x 10(5) copies/mL and 6.03 x 10(5) copies/mL in amniocytes and amniotic fluid supernatant, respectively. Paracentesis showed CMV DNA levels of 1.64 x 10(3) copies/mL and 114 copies/mL in ascitic cells and ascitic supernatant, respectively. The pregnancy was terminated. Postnatally, CMV DNA was detected in the umbilical cord, amnion, placenta, cord blood, lungs, liver and brain by quantitative real-time polymerase chain reaction.
CONCLUSION
A prenatal diagnosis of fetal ascites in association with ventriculomegaly, hyperechogenic bowel and intrauterine growth restriction should alert physicians to congenital CMV infection in addition to aneuploidy. The present case provides evidence that CMV DNA levels are higher in amniotic fluid (amniocytes and amniotic fluid supernatant) than in ascites (ascitic cells and ascitic supernatant) in cases of congenital CMV infection.
Topics: Adult; Amniocentesis; Amniotic Fluid; Ascites; Ascitic Fluid; Cytomegalovirus; Cytomegalovirus Infections; DNA, Viral; Echogenic Bowel; Female; Fetal Growth Retardation; Humans; Hydrocephalus; Immunoglobulin G; Immunoglobulin M; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis
PubMed: 20708531
DOI: 10.1016/S1028-4559(10)60044-7 -
Ultrasound in Obstetrics & Gynecology :... Mar 2012Genetic sonography following first-trimester combined screening appears to increase substantially detection rates for Down syndrome but it relies on the unproved...
OBJECTIVE
Genetic sonography following first-trimester combined screening appears to increase substantially detection rates for Down syndrome but it relies on the unproved assumption of independence between these tests. In this study we aimed to investigate the relationship between first-trimester nuchal translucency (NT) and a series of second-trimester soft markers and structural defects in unaffected pregnancies.
METHODS
NT measurement in the first trimester was followed by second-trimester scan (18 to 23 + 6 weeks) including examination for three categorical markers (intracardiac echogenic foci, hyperechogenic bowel and structural defects) and measurement of nasal bone length, nuchal-fold thickness, femur length, humerus length, renal pelvis diameter and prenasal thickness. All continuous variables were expressed in multiples of the median (MoM) for gestation and correlation coefficients between log-transformed NT and second-trimester variables were calculated. In addition, frequencies of soft markers and structural defects in cases with increased NT were compared to those with normal NT, using MoM cut-offs.
RESULTS
In a dataset of 1970 cases, NT was significantly correlated (P < 0.05) with all second-trimester continuous variables, the correlation being strongest for nuchal-fold thickness (r = 0.10). There was a higher frequency of cases with second-trimester nuchal-fold thickness above the 97.5(th) centile (10.7 vs. 2.2%) and hyperechogenic bowel (2.4 vs. 0.1%) in cases with increased NT.
CONCLUSIONS
Straightforward reassessment of risk using likelihood ratios derived from the second-trimester genetic sonogram might lead to inaccurate estimates. Multivariate models using continuous second-trimester variables might be preferable in sequential screening strategies.
Topics: Adult; Biomarkers; Cohort Studies; Down Syndrome; Female; Gestational Age; Humans; Nasal Bone; Nuchal Translucency Measurement; Predictive Value of Tests; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Prospective Studies; Risk Assessment; Ultrasonography, Prenatal
PubMed: 21484908
DOI: 10.1002/uog.9024