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South African Journal of Surgery.... Nov 2023Transverse colon volvulus is a rare diagnosis, with less than 100 cases reported up to 2019. The condition is complicated by the absence of characteristic radiological... (Review)
Review
Transverse colon volvulus is a rare diagnosis, with less than 100 cases reported up to 2019. The condition is complicated by the absence of characteristic radiological findings and is typically diagnosed intraoperatively. It is a surgical emergency as the condition can lead to bowel necrosis and is associated with a mortality rate of up to 33%. Bowel resection is the treatment of choice, and if a megacolon is present a subtotal colectomy is recommended. Due to the rarity of transverse colon volvulus, limited data is available on the long-term outcome of patients.
Topics: Humans; Intestinal Volvulus; Colon, Transverse; Colectomy
PubMed: 38450699
DOI: 10.36303/SAJS.4069 -
Infection & Chemotherapy May 2024Enterocolitis and gastroenteritis remain major health problems, particularly in children living in developing countries. Intestinal protozoa, such as , and are...
BACKGROUND
Enterocolitis and gastroenteritis remain major health problems, particularly in children living in developing countries. Intestinal protozoa, such as , and are frequently associated with these conditions. Amebic colitis can cause serious complications, including fulminant necrotizing colitis, toxic megacolon, extraintestinal amebiasis, and stunting in children. The diagnosis of amoebiasis is challenging, relying on microscopic examination, which cannot distinguish from the nonpathogenic and Therefore, this study aimed to identify intestinal parasites, particularly , their prevalence, and the clinical characteristics of patients admitted for enterocolitis and gastroenteritis at a tertiary-referral hospital.
MATERIAL AND METHODS
A cross-sectional, retrospective study was conducted at a national, tertiary-referral government hospital, in Jakarta. Of the 111 retrieved medical records from hospitalized patients with enterocolitis and gastroenteritis, 54 (48.6%) fecal samples were still available in the laboratory storage and referred to the parasitology laboratory. All fecal samples underwent the following tests: 1) direct stool examination, after staining with 1% Lugol's solution, and using the water-ether concentration method; 2) modified acid-fast staining for coccidian parasites; 3) Jones' culture medium to detect ; 4) copro-antigen assay to detect and and 5) a polymerase chain reaction (PCR) assay to identify . Clinical and demographic data were obtained from the medical records.
RESULTS
Largely, patients (44.1%) were from the cohort of young children ≤5 years old, followed by adults aged 19-60 years old (24.3%). Both cohorts exhibited polyparasitism. Intestinal parasites were detected in 17 out of the 54 samples (31.4%). These included 6 (11.1%), 2 (3.7%),5 (9.2%), 3 (5.5%), 2 (3.7%), and 1 (1.8%) samples that were positive for , , , , and respectively. PCR analysis revealed that 10 samples were positive for infection, eight of which originated from pediatric patients.
CONCLUSION
At a national tertiary-referral hospital in Indonesia, infection was most prevalent among pediatric patients with enterocolitis. and were the two main species identified by PCR. Therefore, PCR assays and fecal occult-blood tests are recommended in cases of enterocolitis and gastroenteritis.
PubMed: 38859717
DOI: 10.3947/ic.2023.0099 -
Pediatric Surgery International Dec 2023The coexistence of Hirschsprung's disease (HD) with anorectal malformation (ARM) is rare but many surgeons still ask pathologists to look for ganglia in the terminal...
AIM OF THE STUDY
The coexistence of Hirschsprung's disease (HD) with anorectal malformation (ARM) is rare but many surgeons still ask pathologists to look for ganglia in the terminal rectum or fistula. In this study, we aimed to highlight the rarity of this association and question the necessity of histological evaluation.
METHODS
After obtaining board review approval, rectal specimens of ARM patients who underwent corrective surgery in the last 8 years were re-analyzed by two blinded pathologists for the presence and structure of ganglia. Clinical and radiological data of patients retrieved from center records and correlated with histopathologic findings.
MAIN RESULTS
67 patients with ARM were identified, distal rectal specimen was obtained in 47. The median age at the time of surgery was 11 months (2 days-59 months). A normal pattern of ganglia was present in 51.1% (24/47), 29.7% (14/47) had aganglionosis and 19.1% (9/47) were inconclusive due to insufficient material. None of the aganglionic specimens showed other histological findings of HD. Patients were followed up regularly in the outpatient colorectal clinic for a median of 87 months (42-117 m). Only 6 experienced severe constipation (3 ganglionic, 2 no biopsy, 1 aganglionic), all of whom responded to a bowel management program, and none developed other manifestations of HD (abdominal distension, failure to thrive or enterocolitis) or required additional surgery.
CONCLUSIONS
Our results strongly suggest that the association of ARM and HD is extremely rare and the practice of searching for ganglia in the distal rectum or fistula of ARM patients should be discouraged to avoid potential misdiagnosis and overtreatment.
Topics: Humans; Infant; Anorectal Malformations; Rectum; Biopsy; Hirschsprung Disease; Fistula
PubMed: 38108908
DOI: 10.1007/s00383-023-05604-w -
Pediatric Surgery International Nov 2023Intestinal neuronal dysplasia (IND) is a congenital anomaly affecting gastrointestinal neural innervation, but the pathogenesis remains unclear. The homozygous...
PURPOSE
Intestinal neuronal dysplasia (IND) is a congenital anomaly affecting gastrointestinal neural innervation, but the pathogenesis remains unclear. The homozygous Ncx/Hox11L.1 knockout (Ncx) mice exhibit megacolon and enteric ganglia anomalies, resembling IND phenotypes. Sox10-Venus transgenic mouse were used to visualize enteric neural crest cells in real time. This study aims to establish a novel mouse model of Sox10-Venus/Ncx mouse to study the pathogenesis of IND.
METHODS
Sox10-Venus/Ncx (Ncx) (n = 8) mice and Sox10-Venus/Ncx controls (control) (n = 8) were euthanized at 4-5 weeks old, and excised intestines were examined with fluorescence microscopy. Immunohistochemistry was performed on tissue sections with neural marker Tuj1.
RESULTS
Ncx mice exhibited dilated cecum and small intestine. Body weight of Ncx mice was lower with higher ratio of small intestine length relative to body weight. The neural network (Sox10-Venus) was observed along the intestine wall in Ncx and control mice without staining. Ectopic and increased expression of Tuj1 was observed in both small intestine and proximal colon of Ncx mice.
CONCLUSION
This study has established a reliable animal model that exhibits characteristics similar to patients with IND. This novel mouse model can allow the easy visualization of ENS in a time- and cost-effective way to study the pathogenesis of IND.
Topics: Humans; Mice; Animals; Intestines; Enteric Nervous System; Colon; Mice, Transgenic; Body Weight; Neural Crest; Hirschsprung Disease
PubMed: 37982893
DOI: 10.1007/s00383-023-05585-w -
Orphanet Journal of Rare Diseases Jun 2024Waardenburg syndrome (WS) is a rare genetic disorder mainly characterized by hearing loss and pigmentary abnormalities. Currently, seven causative genes have been...
BACKGROUND
Waardenburg syndrome (WS) is a rare genetic disorder mainly characterized by hearing loss and pigmentary abnormalities. Currently, seven causative genes have been identified for WS, but clinical genetic testing results show that 38.9% of WS patients remain molecularly unexplained. In this study, we performed multi-data integration analysis through protein-protein interaction and phenotype-similarity to comprehensively decipher the potential causative factors of undiagnosed WS. In addition, we explored the association between genotypes and phenotypes in WS with the manually collected 443 cases from published literature.
RESULTS
We predicted two possible WS pathogenic genes (KIT, CHD7) through multi-data integration analysis, which were further supported by gene expression profiles in single cells and phenotypes in gene knockout mouse. We also predicted twenty, seven, and five potential WS pathogenic variations in gene PAX3, MITF, and SOX10, respectively. Genotype-phenotype association analysis showed that white forelock and telecanthus were dominantly present in patients with PAX3 variants; skin freckles and premature graying of hair were more frequently observed in cases with MITF variants; while aganglionic megacolon and constipation occurred more often in those with SOX10 variants. Patients with variations of PAX3 and MITF were more likely to have synophrys and broad nasal root. Iris pigmentary abnormality was more common in patients with variations of PAX3 and SOX10. Moreover, we found that patients with variants of SOX10 had a higher risk of suffering from auditory system diseases and nervous system diseases, which were closely associated with the high expression abundance of SOX10 in ear tissues and brain tissues.
CONCLUSIONS
Our study provides new insights into the potential causative factors of WS and an alternative way to explore clinically undiagnosed cases, which will promote clinical diagnosis and genetic counseling. However, the two potential disease-causing genes (KIT, CHD7) and 32 potential pathogenic variants (PAX3: 20, MITF: 7, SOX10: 5) predicted by multi-data integration in this study are all computational predictions and need to be further verified through experiments in follow-up research.
Topics: Waardenburg Syndrome; Humans; Microphthalmia-Associated Transcription Factor; SOXE Transcription Factors; PAX3 Transcription Factor; Mice; Animals; Phenotype; Genotype; Mutation
PubMed: 38844942
DOI: 10.1186/s13023-024-03220-y -
Journal of Investigational Allergology... Jul 2023Cartilage-hair hypoplasia (CHH) syndrome is a rare autosomal recessive syndrome associated with skeletal dysplasia, varying degrees of combined immunodeficiency (CID),...
BACKGROUND AND OBJECTIVE
Cartilage-hair hypoplasia (CHH) syndrome is a rare autosomal recessive syndrome associated with skeletal dysplasia, varying degrees of combined immunodeficiency (CID), short stature, hair hypoplasia, macrocytic anemia, increased risk of malignancies, and Hirschsprung disease. To provide clinical and immunological insights obtained from 2 unrelated patients who displayed clinical characteristics of CHH.
METHODS
Two patients with suspected CHH syndrome due to skeletal dysplasia and immunodeficiency underwent an immunological and genetic work-up using flow cytometry, next-generation sequencing (NGS) of the immune repertoire, and Sanger sequencing to identify the underlying defects.
RESULTS
Patient 1 presented with low birth weight and skeletal dysplasia. Newborn screening was suggestive of T-cell immunodeficiency, as T-cell receptor excision circle levels were undetectable. Both the T-cell receptor (TCR) Vß and TCR-g (TRG) repertoires were restricted, with evidence of clonal expansion. Genetic analysis identified compound heterozygous RMRP variants inherited from both parents. Patient 2 presented with recurrent lung and gastrointestinal infections, skeletal dysplasia, failure to thrive, and hepatomegaly. The polyclonal pattern of the TCRß repertoire was normal, with only slight overexpression of TCR-ßV20 and restricted expression of Vßs. TRG expressed a normal diverse repertoire, similar to that of the healthy control sample. Genetic analysis identified biallelic novel regulatory variants in RMRP. Both parents are carriers of this mutation.
CONCLUSION
Our findings demonstrate how the immunological work-up, supported by genetic findings, can dramatically change treatment and future outcome in patients with the same clinical syndrome.
Topics: Infant, Newborn; Humans; Hirschsprung Disease; Immunologic Deficiency Syndromes; Hair; Receptors, Antigen, T-Cell; Disease Progression
PubMed: 35166674
DOI: 10.18176/jiaci.0792 -
International Journal For Parasitology.... Aug 2023Chagas disease causes a problematic pathology that can lead to megacolon and heart disease, and can even cause the death of the patient. Current therapies for this...
Chagas disease causes a problematic pathology that can lead to megacolon and heart disease, and can even cause the death of the patient. Current therapies for this disease are the same as they were 50 years ago, are not fully effective and have strong side effects. The lack of a safe and effective therapy makes it necessary to search for new, less toxic and totally effective compounds against this parasite. In this work, the antichagasic activity of 46 novel cyanomethyl vinyl ether derivatives was studied. In addition, to elucidate the type of cell death that these compounds produce in parasites, several events related to programmed cell death were studied. The results highlight four more selective compounds, E63, E64, E74 and E83, which also appear to trigger programmed cell death, and are therefore postulated as good candidates to use in future therapeutics for Chagas disease.
Topics: Animals; Humans; Trypanosoma cruzi; Trypanocidal Agents; Chagas Disease; Parasites; Cell Death; Ethers
PubMed: 37311268
DOI: 10.1016/j.ijpddr.2023.05.001 -
Pediatric Surgery International Jul 2023During "bowel management week," abdominal radiographs are used to monitor the amount and location of stool. A radiologist familiar with the treatment plan can provide an...
INTRODUCTION
During "bowel management week," abdominal radiographs are used to monitor the amount and location of stool. A radiologist familiar with the treatment plan can provide an improved interpretation. The goal of this paper is to standardize the radiological reports during a bowel management week.
METHODS
We saw 744 patients during bowel management week from May 2016 until March 2023. Diagnosis included: anorectal malformation (397), idiopathic constipation (180), Hirschsprung disease (89), and spina bifida (78). Laxatives were the treatment for 51% of patients, and 49% received enemas. Characteristic radiographs were selected for each treatment group for a proposed reading standardization.
RESULTS
When the stool is visualized, it is crucial to report its location. Having a contrast enema helps with the correct interpretation of the colonic anatomy. It is also essential to always compare the amount of stool with the radiograph from the previous day to determine if there is an increase or decrease in stool. Examples of radiographs are shown to guide the use of the preferred proposed terminology.
CONCLUSION
Providing information regarding which treatment modality the patient is receiving and stating that a patient is on a bowel management week treatment is crucial for the radiologist to provide adequate interpretation. The radiologist must be familiar with the treatment goals and purpose of the daily radiograph.
Topics: Humans; Constipation; Laxatives; Intestines; Enema; Hirschsprung Disease; Fecal Incontinence
PubMed: 37468717
DOI: 10.1007/s00383-023-05513-y -
Gastroenterology Clinics of North... Jun 2024Hirschsprung's disease is a dysmotility disease caused by lack of ganglion cells in the bowel wall that can affect varying lengths of the intestine. In extreme... (Review)
Review
Hirschsprung's disease is a dysmotility disease caused by lack of ganglion cells in the bowel wall that can affect varying lengths of the intestine. In extreme circumstances, there can be little remaining ganglionated bowel, and the patient becomes dependent on parental nutrition (PN) for survival. Intestinal transplant has been utilized to salvage these patients suffering terminal complications of PN. The question as to whether to reestablish intestinal continuity, and thus not require a stoma is vexed. However, data and experience would suggest this can be safely done with good functional results.
Topics: Hirschsprung Disease; Humans; Intestines; Surgical Stomas
PubMed: 38719379
DOI: 10.1016/j.gtc.2024.03.002 -
Pediatric Surgery International Aug 2023Hirschsprung's disease (HSCR) is characterized by a dysfunction of enteric neural crest cells (ENCCs) proliferation, migration and premature apoptosis during embryonic...
BACKGROUND
Hirschsprung's disease (HSCR) is characterized by a dysfunction of enteric neural crest cells (ENCCs) proliferation, migration and premature apoptosis during embryonic development, resulting in aganglionic colon. Our aim is to explore the role of miR-144 with its target gene Transcription Factor AP 4 (TFAP4) in nerve cells in HSCR.
METHODS
The relative expression levels of miR-144 in HSCR colon samples were detected by quantitative real-time PCR (RT-qPCR). Western blot assays were conducted to investigate the TFAP4 protein expressing level. The interaction of miR-144 and TFAP4 was predicted with bioinformatics analysis and examined with luciferase reporter assays. Overexpression or knockdown of miR-144 and TFAP4 in 293T and SH-SY5Y cell lines was applied. Cell proliferation, migration and invasion were detected by CCK-8 assays, Transwell migration and invasion assays. Cell cycle and apoptosis was examined by flow cytometric analysis.
RESULTS
Downregulation of miR-144 and upregulation of TFAP4 were shown in HSCR. Luciferase reporter assay indicated that miR-144 reduced luciferase activity in 293T and SH-SY5Y transfected with TFAP4-WT-3UTR luciferase reporter and confirmed TFAP4 was the downstream target gene of miR-144. Data showed that miR-144 promoted the cell proliferation, migration and invasion of 293T and SH-SY5Y, while TFAP4 blocked the cell proliferation, migration and invasion. TFAP4 overexpression reversed the miR-144-mediated cell proliferation, migration and invasion of 293T and SH-SY5Y.
CONCLUSIONS
Downregulation of miR-144 blocked the cell proliferation and migration of nerve cells via targeting TFAP4 and contributed to the pathogenesis of HSCR. This provides an innovative and candidate target for treatment of HSCR.
Topics: Female; Humans; Pregnancy; Cell Proliferation; Down-Regulation; Hirschsprung Disease; MicroRNAs; Neuroblastoma; Neurons; Transcription Factors
PubMed: 37610449
DOI: 10.1007/s00383-023-05530-x