Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

A challenging case of spontaneous idiopathic omental infarction in a trisomy 21 patient

ABSTRACT:

Background

Omental infarction (OI) is a rare cause of acute abdominal pain that is often missed out. Due to its non-specific presentation can mimic other commoner conditions such as acute appendicitis, acute diverticulitis, and tuberculosis abdomen.

Case presentation

We present a 42-year-old gentleman with trisomy 21 presenting right iliac fossa pain. Examination revealed tenderness in the right lower quadrant and blood parameters showed leucocytosis. With an initial impression of acute appendicitis, the patient was subjected to surgery. Intraoperatively, there were abnormalities to the omentum suggestive of OI, resulting in partial omentectomy. Symptom resolution occurred immediately and the patient was discharged early.

Conclusion

OI is a rare cause of acute abdomen that can mimic other abdominal pathologies. In trisomy 21 patients who present with acute abdomen, thorough assessments including preoperative imaging are advisable. Diagnostic laparoscopy is recommended as OI can be managed via minimally invasive surgery, hence ensuring good surgical outcomes. Highlights • Omental infarction (OI) is a rare cause of acute abdominal pain that is often misdiagnosed, especially among those who present with right iliac fossa pain.• In trisomy 21 patients who present with acute abdomen, thorough assessments including preoperative imaging are advisable.• Diagnostic laparoscopy is recommended as OI can be managed via minimally invasive surgery, hence to ensure good surgical outcomes.

SUBMITTER: Roy A

PROVIDER: S-EPMC9206908 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Similar Datasets

Spontaneous absorption of congenital cataract in trisomy 21.

Project description:We report a case of spontaneous cataract absorption over a period of 19 weeks in a 5-week-old boy with trisomy 21. Ultrasound biomicroscopy images at 5 and 24 weeks of age showed that 71% of the initial lens thickness was absorbed during this period. At surgery, the lens thickness was 0.92 mm in the right eye and 0.91 mm in the left eye. Uncomplicated cataract extraction was performed. Trypan blue staining revealed an area of possible lens leakage through the anterior lens capsule in the left eye, suggesting a mechanism for cataract absorption.

| S-EPMC8665104 | biostudies-literature

OMENTAL INFARCTION: SURGICAL or CONSERVATIVE TREATMENT? A CASE REPORTS and CASE SERIES SYSTEMATIC REVIEW.

Project description:BackgroundOmental infarction (OI) is an infrequent cause of acute abdominal pain and there is no consensus on whether conservative or surgical treatment is the best strategy when performing positive CT diagnosis.ObjectivesTo assess which of the two treatments is the most commonly adopted and compare outcomes in terms of success rate in resolution of symptoms and hospital length of stay.Eligibility criteriaCase report and case series of patients with abdominal pain and positive diagnosis by CT of omental infarction.Data sourcesPubMed, Science Direct and Google Scholar in combination with cross-referencing searches and manual searches of eligible articles from January 2000 to June 2018.ParticipantsPatients older than 18 years of age.MethodsPatient characteristics and results were summarized descriptively. Categorical variables were assessed by chisquare test or Fischer's exact test, and continuous variables by the Wilcoxon-Mann-Whitney or Kruskal-Wallis test. Risk factors for failure of the conservative management were identified using multivariate logistic regression.Results90 articles were included in the final analysis (146 patients). 107 patients (73.3%) received conservative treatment with a failure rate of 15.9% (patients needing surgery) and 39 patients (26.7%) received surgery as first treatment. The mean hospital length of stay was 5.1 days for the conservative treatment group and 2.5 days for the surgery group with statistically significant differences (p = 0.00). Younger age and white blood cells count ≥12000/μl were predictive factors of conservative treatment failure.ConclusionsAlthough conservative treatment is effective in most patients, surgery has advantages in terms of hospital length of stay.

| S-EPMC7334794 | biostudies-literature

Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model.

Project description:Induced pluripotent stem cells (iPSCs) from patients are an attractive disease model to study tissues with poor accessibility such as the brain. Using this approach, we and others have shown that trisomy 21 results in genome-wide transcriptional dysregulations. The effects of loss of genes on chromosome 21 is much less characterized. Here, we use patient-derived neural cells from an individual with neurodevelopmental delay and a ring chromosome 21 with two deletions spanning 3.8 Mb at the terminal end of 21q22.3, containing 60 protein-coding genes. To investigate the molecular perturbations of the partial monosomy on neural cells, we established patient-derived iPSCs from fibroblasts retaining the ring chromosome 21, and we then induced iPSCs into neuroepithelial stem cells. RNA-Seq analysis of NESCs with the ring chromosome revealed downregulation of 18 genes within the deleted region together with global transcriptomic dysregulations when compared to euploid NESCs. Since the deletions on chromosome 21 represent a genetic "contrary" to trisomy of the corresponding region, we further compared the dysregulated transcriptomic profile in with that of two NESC lines with trisomy 21. The analysis revealed opposed expression changes for 23 genes on chromosome 21 as well as 149 non-chromosome 21 genes. Taken together, our results bring insights into the effects on the global and chromosome 21 specific gene expression from a partial monosomy of chromosome 21qter during early neuronal differentiation.

| S-EPMC8854775 | biostudies-literature

Neuropathology of trisomy 21 mosaicism in a case with early-onset dementia.

Project description:IntroductionThis study investigated the impact of trisomy 21 mosaicism (mT21) on Alzheimer's disease (AD) neuropathology in a well-characterized clinical case described by Ringman et al.MethodsWe describe AD neuropathology in mT21 including amyloid beta, phosphorylated tau, astrogliosis, microgliosis, α-synuclein, and TAR DNA-binding protein 43 (TDP-43) in cerebral cortex, hippocampal subregions, and amygdala using immunohistochemistry.ResultsWe observed high AD neuropathologic change with a score of A3B3C3. In addition, there was widespread astrogliosis, cerebral amyloid angiopathy, and perivascular space widening throughout the brain. Lewy bodies and neurites were noted in the amygdala only and no TDP-43 was observed.DiscussionThe findings in this case report highlight that mT21 is sufficient to induce AD neuropathology and early-onset dementia.HighlightsTrisomy 21 mosaicism (mT21) occurs when three copies of chromosome 21 are present in some but not all somatic cells in an individual. mT21 accounts for ≈ 2% of people diagnosed with Down syndrome (DS). Immunohistochemical identification of amyloid beta, tau, astrocytes, microglia, α-synuclein, and TAR DNA-binding protein 43 show that Alzheimer's disease (AD) pathology in mT21 is similar to full trisomy 21. The findings in this case report highlight that mT21 is sufficient to induce AD neuropathology and early-onset dementia.

| S-EPMC11772706 | biostudies-literature

Tricuspid stenosis due to pectus excavatum in a paediatric patient with trisomy 21.

Project description: Not available

| S-EPMC10908392 | biostudies-literature

Why could a woman have three Trisomy 21 pregnancies? - a case report.

Project description:Mosaicism, an important cause for recurrent T21, should be suspected in families with more than one affected child wishing to receive prenatal counseling. Fluorescence in-situ hybridization analysis in a large number of cells and in different tissue samples is critical for detecting low-level mosaicism and is a key prognostic factor.

| S-EPMC5538204 | biostudies-other

Spontaneous lesser omental herniation resolved by laparoscopic surgery: case report and systematic literature review.

Project description:BackgroundDespite its extremely low incidence, intra-abdominal herniation through the lesser omentum is associated with a high mortality rate and must be recognized early and treated urgently. To overcome a lack of data on the management of this condition, we collected and reviewed all the reported cases of operated lesser omental hernia and presented the case of a patient treated by laparoscopy for an isolated lesser omental hernia.MethodsAccording to PRISMA guidelines and using PubMed, Cochrane Library, and Web of Science, a systematic literature review of cases of lesser omental hernia treated by surgery was performed on February 12, 2023.ResultsOf 482 articles, 30 were included for analysis and only 9 articles presented an isolated hernia through the lesser omentum. Among these, 4 patients were female and the median age was 38. Upper abdominal pain and vomiting were reported in 7 out of 9 patients. The small bowel was responsible for 78% (7/9) of all lesser omental herniations. All of them were treated by laparotomy. In addition, we describe the case of a 65-year-old woman without prior surgical history who was treated by laparoscopy for a spontaneous closed loop hernia through the lesser omentum without any other associated hernias.ConclusionMostly associated with prior surgery or trauma, this type of herniation could sometimes occur spontaneously without any sign of peritonitis. Due to the high mortality rate, internal abdominal hernias should always be ruled out with a CT scan in front of patients presenting with persisting acute abdominal pain and no alternative diagnosis.

| S-EPMC10462501 | biostudies-literature

Translating dosage compensation to trisomy 21.

Project description:Down's syndrome is a common disorder with enormous medical and social costs, caused by trisomy for chromosome 21. We tested the concept that gene imbalance across an extra chromosome can be de facto corrected by manipulating a single gene, XIST (the X-inactivation gene). Using genome editing with zinc finger nucleases, we inserted a large, inducible XIST transgene into the DYRK1A locus on chromosome 21, in Down's syndrome pluripotent stem cells. The XIST non-coding RNA coats chromosome 21 and triggers stable heterochromatin modifications, chromosome-wide transcriptional silencing and DNA methylation to form a 'chromosome 21 Barr body'. This provides a model to study human chromosome inactivation and creates a system to investigate genomic expression changes and cellular pathologies of trisomy 21, free from genetic and epigenetic noise. Notably, deficits in proliferation and neural rosette formation are rapidly reversed upon silencing one chromosome 21. Successful trisomy silencing in vitro also surmounts the major first step towards potential development of 'chromosome therapy'.

| S-EPMC3848249 | biostudies-literature

Trisomy 21 and early brain development.

Project description:Trisomy for human chromosome 21 (Hsa21) results in Down syndrome (DS). The finished human genome sequence provides a thorough catalog of the genetic elements whose altered dosage perturbs development and function in DS. However, understanding how small alterations in the steady state transcript levels for <2% of human genes can disrupt development and function of essentially every cell presents a more complicated problem. Mouse models that recapitulate specific aspects of DS have been used to identify changes in brain morphogenesis and function. Here we provide a few examples of how trisomy for specific genes affects the development of the cortex and cerebellum to illustrate how gene dosage effects might contribute to divergence between the trisomic and euploid brains.

| S-EPMC3273608 | biostudies-literature

Trisomy 21 and facial developmental instability.

Project description:The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology. Little is known about how trisomy 21 alters craniofacial morphogenesis to create this characteristic appearance. Proponents of the "amplified developmental instability" hypothesis argue that trisomy 21 causes a generalized genetic imbalance that disrupts evolutionarily conserved developmental pathways by decreasing developmental homeostasis and precision throughout development. Based on this model, we test the hypothesis that DS faces exhibit increased developmental instability relative to euploid individuals. Developmental instability was assessed by a statistical analysis of fluctuating asymmetry. We compared the magnitude and patterns of fluctuating asymmetry among siblings using three-dimensional coordinate locations of 20 anatomic landmarks collected from facial surface reconstructions in four age-matched samples ranging from 4 to 12 years: (1) DS individuals (n?=?55); (2) biological siblings of DS individuals (n?=?55); 3) and 4) two samples of typically developing individuals (n?=?55 for each sample), who are euploid siblings and age-matched to the DS individuals and their euploid siblings (samples 1 and 2). Identification in the DS sample of facial prominences exhibiting increased fluctuating asymmetry during facial morphogenesis provides evidence for increased developmental instability in DS faces. We found the highest developmental instability in facial structures derived from the mandibular prominence and lowest in facial regions derived from the frontal prominence.

| S-EPMC3744194 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data