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IDCases 2023
PubMed: 37577052
DOI: 10.1016/j.idcr.2023.e01858 -
Journal of Inflammation Research 2023Paraneoplastic syndromes often cause endocrine, neurological, cutaneous, and hematologic pathologies, and cases with digestive symptoms as prominent cases are rare.
BACKGROUND
Paraneoplastic syndromes often cause endocrine, neurological, cutaneous, and hematologic pathologies, and cases with digestive symptoms as prominent cases are rare.
CASE DESCRIPTION
A 1-year-old child admitted to the emergency department with severe abdominal distension was later diagnosed with sacrococcygeal yolk cystoma with ulcerative colitis. After symptomatic management, surgical removal of the tumor, and JEB chemotherapy, the symptoms of ulcerative colitis disappeared completely. After 7 years of follow-up, the child grew and developed well, and there was no recurrence of tumor and ulcerative colitis.
CONCLUSION
Yolk sac tumor with ulcerative colitis is a rare paraneoplastic syndrome with complex clinical manifestations.
PubMed: 37576158
DOI: 10.2147/JIR.S418733 -
Acta Medica Indonesiana Apr 2023C. difficile infection is related to wide spectrum of disease, from self-limiting diarrhea to fulminant disease that can cause toxic megacolon or pseudo-membrane...
C. difficile infection is related to wide spectrum of disease, from self-limiting diarrhea to fulminant disease that can cause toxic megacolon or pseudo-membrane colitis. Difficult approach to diagnose this disease is also problem. C. difficile infection is diagnosed when diarrhea occurred in high risk patient with positive result of GDH or NAAT test that was confirmed by positive result of toxin test. Nevertheless, there is limited choice of treatment in Indonesia. Thus, the main priority of C. difficile infection in Indonesia is associated with its prevention, by implementing standard precaution and use of rational antimicrobial.
Topics: Humans; Bacterial Toxins; Clostridioides difficile; Clostridium Infections; Diarrhea; Indonesia
PubMed: 37524596
DOI: No ID Found -
Computational Intelligence and... 2023[This retracts the article DOI: 10.1155/2022/2669294.].
[This retracts the article DOI: 10.1155/2022/2669294.].
PubMed: 37502032
DOI: 10.1155/2023/9769013 -
Clinical and Translational... Sep 2023The gene-environment interaction of the REarranged during Transfection ( RET ) gene with vitamin A in the etiopathogenesis of Hirschsprung disease (HSCR) has been...
INTRODUCTION
The gene-environment interaction of the REarranged during Transfection ( RET ) gene with vitamin A in the etiopathogenesis of Hirschsprung disease (HSCR) has been suggested in rodents. The aim of this study was to evaluate vitamin A status in mothers of children with HSCR and to assess its association with pathogenic variants of the RET gene in affected children.
METHODS
This was a case-control study of stable isotope-based vitamin A measurement stores of mothers of children diagnosed with HSCR (within 8 months from birth, n = 7) and age-matched mothers of normal children (n = 6). Next-generation sequencing of RET exons, along with their upstream promoter region, was performed in the 7 HSCR proband-parent triads to evaluate pathogenic variants.
RESULTS
Maternal vitamin A stores in the HSCR group was almost 50% that of those in controls, tending toward significance (0.50 ± 0.17 vs 0.89 ± 0.51 μmol/g respectively, P = 0.079). Two novel pathogenic de novo mutations were identified in 2 cases, and a rare single-nucleotide deletion was detected in the 3.5-kb RET upstream region, in a heterozygous state, in all 7 proband-parent triads. Low-penetrance RET haplotypes associated with HSCR were detected in 5 cases.
DISCUSSION
Mothers with children with HSCR had lower vitamin A liver stores than mothers with normal children, and the children who were affected had HSCR despite having no established pathogenic RET variants. Lower maternal vitamin A status may increase the penetrance of genetic mutations in RET , and vitamin-A mediated gene-environment interactions may underpin some of the etiology of HSCR.
Topics: Humans; Child; Proto-Oncogene Proteins c-ret; Vitamin A; Hirschsprung Disease; Case-Control Studies; Proto-Oncogene Mas; Risk Factors
PubMed: 37490568
DOI: 10.14309/ctg.0000000000000619 -
Pediatric Research Dec 2023Hirschsprung disease (HSCR) is a congenital intestinal malformation. Previous HSCR animal model needs invasive operation on adult animal. The aim of this study is to...
BACKGROUND
Hirschsprung disease (HSCR) is a congenital intestinal malformation. Previous HSCR animal model needs invasive operation on adult animal. The aim of this study is to establish an early-onset animal model which is consistent with the clinical manifestation of HSCR patients.
METHODS
The neonatal mice were randomly divided into the benzalkonium chloride (BAC) group, treated with BAC via enema, and the control group, treated with saline. Weight changes, excretion time of carmine, CT scan, hematoxylin-eosin staining and immunofluorescence staining were used to evaluate the effect of the model. Differentially expressed genes (DEGs) in the HSCR mice were analyzed by using DAVID 6.8 database and compared with DEGs from HSCR patients.
RESULTS
The weight of mice was lower and the excretion time of carmine was longer in the BAC group. Moreover, distal colon stenosis and proximal colon enlargement appeared in the BAC group. Neurons in the distal colon decreased significantly after 4 weeks of BAC treatment and almost disappeared completely after 12 weeks. Transcriptome profiling of the mouse model and HSCR patients is similar in terms of altered gene expression.
CONCLUSIONS
An economical and reliable HSCR animal model which has similar clinical characteristics to HSCR patients was successfully established.
IMPACT
The animal model of Hirschsprung disease was first established in BALB/c mice. This model is an animal model of early-onset HSCR that is easy to operate and consistent with clinical manifestations. Transcriptome profiling of the mouse model and HSCR patients is similar in terms of altered gene expression.
Topics: Humans; Mice; Animals; Hirschsprung Disease; Carmine; Intestines; Disease Models, Animal
PubMed: 37460708
DOI: 10.1038/s41390-023-02728-6 -
Annals of Surgical Treatment and... Jul 2023Although surgical management of Hirschsprung disease (HD) is effective in most patients, some patients experience long-term postoperative complications, and require redo...
PURPOSE
Although surgical management of Hirschsprung disease (HD) is effective in most patients, some patients experience long-term postoperative complications, and require redo pull-through (PT). The present study evaluated clinical outcomes of redo PT in HD patients at a single center.
METHODS
Patients with HD who underwent redo PT procedures between 2003 and 2019 were retrospectively reviewed.
RESULTS
Thirteen patients were included. Five (38.5%) had undergone initial PT surgery at our center and 8 (61.5%) at other centers. Redo PT procedures were transanal endorectal PT in 12 patients (92.3%) and the posterior sagittal approach in 1 patient (7.7%). Indications for redo PT included pathologic misdiagnosis in 8 patients (61.5%); stricture in 2 (15.4%); and rectal stenosis, obstructing Duhamel pouch and remnant septum in 1 each (7.7%). At a median follow-up of 68 months (range, 3-227 months) after redo PT, 8 patients (61.5%) had normal bowel function, 2 (15.4%) had incontinence, and 1 (7.7%) had constipation.
CONCLUSION
Redo PT procedures could be an effective approach for improving obstructive symptoms in HD patients with anatomic or pathologic reasons following primary PT. Careful selection of patients and discreet indications for redo PT are crucial.
PubMed: 37441321
DOI: 10.4174/astr.2023.105.1.57 -
Journal of Pediatric Surgery Dec 2023Transition of care (TOC; from childhood into adulthood) of patients with anorectal malformations (ARM) and Hirschsprung disease (HD) ensures continuation of care for...
BACKGROUND
Transition of care (TOC; from childhood into adulthood) of patients with anorectal malformations (ARM) and Hirschsprung disease (HD) ensures continuation of care for these patients. The aim of this international study was to assess the current status of TOC and adult care (AC) programs for patients with ARM and HD.
METHODS
A survey was developed by members of EUPSA, ERN eUROGEN, and ERNICA, including patient representatives (ePAGs), comprising of four domains: general information, general questions about transition to adulthood, and disease-specific questions regarding TOC and AC programs. Recruitment of centres was done by the ERNs and EUPSA, using mailing lists and social media accounts. Only descriptive statistics were reported.
RESULTS
In total, 82 centres from 21 different countries entered the survey. Approximately half of them were ERN network members. Seventy-two centres (87.8%) had a self-reported area of expertise for both ARM and HD. Specific TOC programs were installed in 44% of the centres and AC programs in 31% of these centres. When comparing centres, wide variation was observed in the content of the programs.
CONCLUSION
Despite the awareness of the importance of TOC and AC programs, these programs were installed in less than 50% of the participating centres. Various transition and AC programs were applied, with considerable heterogeneity in implementation, content and responsible caregivers involved. Sharing best practice examples and taking into account local and National Health Care Programs might lead to a better continuation of care in the future.
LEVEL OF EVIDENCE
III.
Topics: Adult; Humans; Child; Transitional Care; Hirschsprung Disease; Anorectal Malformations; Surveys and Questionnaires; Colorectal Neoplasms
PubMed: 37438237
DOI: 10.1016/j.jpedsurg.2023.06.008 -
Access Microbiology 2023is an unusual pathogen in humans and has not been extensively described in the scientific literature. Herein, we present a case of bacteremia and septic shock due to...
INTRODUCTION
is an unusual pathogen in humans and has not been extensively described in the scientific literature. Herein, we present a case of bacteremia and septic shock due to following species gastroenteritis in a patient with immunosuppression.
CASE PRESENTATION
An 80-year-old man with myeloproliferative disorder on ruxolitinib presented with several days of worsening abdominal pain, which rapidly developed into septic shock with multi-organ failure and explosive diarrhea. Gram-negative bacilli observed on Gram staining of his blood culture broth were later identified as and . Repeated abdominal imaging revealed no evidence of intestinal perforation or megacolon. In addition, stool PCR was positive for species. His clinical course improved after 14 days of meropenem with complete resolution of his symptoms and organ failure.
CONCLUSION
is a rare infection in humans. We postulate that Janus Associated Kinase (JAK) inhibition in myeloproliferative disorders heightened this patient's risk of bacterial translocation and severe illness in the setting of gastroenteritis. may be identified more frequently as a pathogen in humans as more advanced diagnostic technologies become increasingly available in clinical microbiology.
PubMed: 37424566
DOI: 10.1099/acmi.0.000479.v3 -
Cureus Jun 2023infection (CDI) is the most common healthcare-associated infection in the US. Symptoms include watery diarrhea, nausea, and anorexia and it can present with...
INTRODUCTION
infection (CDI) is the most common healthcare-associated infection in the US. Symptoms include watery diarrhea, nausea, and anorexia and it can present with leukocytosis on laboratory evaluation. Treatment is based on disease severity and recurrence. Despite antibiotic usage being the highest risk factor for infection, they are also the first-line treatment for initial CDI. Prevention of CDI mostly involves good hand hygiene, antibiotic stewardship, and appropriate precautions when interacting with infected individuals. Vitamin D deficiency (VDD) has been linked to CDI, however, there is limited insight into the correlation between both states. Our aim was to further investigate the potential link between VDD and CDI.
METHODS
Data were obtained from the National Inpatient Sample (NIS) from 2016 to 2019. Patients with CDI were identified and stratified based on a diagnosis of VDD. Primary outcomes were mortality, CDI recurrence, ileus, toxic megacolon, perforation, and colectomy. Chi-squared and independent t-tests were performed to assess categorical and continuous data, respectively. Multiple logistic regression was used to control for confounders.
RESULTS
Patients with VDD had higher rates of CDI recurrence (17.4% versus 14.7%, p<0.05), but lower rates of mortality (3.1% versus 6.1%, p<0.05). Differences in rates of ileus, toxic megacolon, perforation, and colectomy were statistically insignificant. Length of stay was higher in the VDD group (10.38 days versus 9.83 days). Total charges were lower in the VDD group ($93,935.85 versus $102,527.9).
DISCUSSION
CDI patients with comorbid VDD are at higher risk for the recurrence of CDI. This is likely due to the role of vitamin D in the expression of intestinal epithelial antimicrobial peptides, macrophage activation, and maintenance of tight junctions between gut epithelial cells. Furthermore, vitamin D plays a role in maintaining a healthy gut microbiome. Alternatively, deficiency results in poor gut health and detrimental changes to the gut microbiome. In effect, VDD promotes the proliferation of within the large colon, resulting in an increased predisposition for CDI.
PubMed: 37416010
DOI: 10.7759/cureus.39970