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Mathematical Biosciences and... Sep 2022This study explored the chemical and pharmacological mechanisms of Shao Yao Gan Cao decoction (SYGC) in the treatment of Sphincter of Oddi Dysfunction (SOD) through...
This study explored the chemical and pharmacological mechanisms of Shao Yao Gan Cao decoction (SYGC) in the treatment of Sphincter of Oddi Dysfunction (SOD) through ultra-high-performance liquid chromatography coupled with Quadrupole Exactive-Orbitrap high-resolution mass spectrometry (UHPLC-Q Exactive-Orbitrap HR-MS), network pharmacology, transcriptomics, molecular docking and in vivo experiments. First, we identified that SYGC improves SOD in guinea pigs by increased c-kit expression and decreased inflammation infiltration and ring muscle disorders. Then, a total of 649 SOD differential genes were found through RNA sequencing and mainly enriched in complement and coagulation cascades, the B cell receptor signaling pathway and the NF-kappa B signaling pathway. By combining UHPLC-Q-Orbitrap-HRMS with a network pharmacology study, 111 chemicals and a total of 52 common targets were obtained from SYGC in the treatment of SOD, which is also involved in muscle contraction, the B cell receptor signaling pathway and the complement system. Next, 20 intersecting genes were obtained among the PPI network, MCODE and ClusterOne analysis. Then, the molecular docking results indicated that four active compounds (glycycoumarin, licoflavonol, echinatin and homobutein) and three targets (AURKB, KIF11 and PLG) exerted good binding interactions, which are also related to the B cell receptor signaling pathway and the complement system. Finally, animal experiments were conducted to confirm the SYGC therapy effects on SOD and verify the 22 hub genes using RT-qPCR. This study demonstrates that SYGC confers therapeutic effects against an experimental model of SOD via regulating immune response and inflammation, which provides a basis for future research and clinical applications.
Topics: Animals; Guinea Pigs; Glycyrrhiza uralensis; Network Pharmacology; Tandem Mass Spectrometry; Molecular Docking Simulation; Sphincter of Oddi Dysfunction; Inflammation; Receptors, Antigen, B-Cell
PubMed: 36654051
DOI: 10.3934/mbe.2022626 -
European Journal of Human Genetics :... Aug 2022The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes ranging from situs inversus totalis to heterotaxy, mostly associated with...
The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes ranging from situs inversus totalis to heterotaxy, mostly associated with complex congenital heart defects (CHD) and situs abnormalities such as intestinal malrotation, biliary atresia, asplenia, or polysplenia. A proportion of laterality defects arise in the context of primary ciliary dyskinesia (PCD) accompanied by respiratory symptoms or infertility. In this study, exome sequencing (ES) was performed in 14 case-parent trios/quattros with clinical exclusion of PCD prior to analysis. Moreover, all cases and parents underwent detailed clinical phenotyping including physical examination, echocardiography by a skilled paediatric cardiologist and abdominal ultrasound examinations not to miss mildly affected individuals. Subsequent survey of the exome data comprised filtering for monoallelic de novo, rare biallelic, and X-linked recessive variants. In two families, rare variants of uncertain significance (VUS) in PKD1L1 and ZIC3 were identified. Both genes have been associated with laterality defects. In two of the remaining families, biallelic variants in LMBRD1 and DNAH17, respectively, were prioritized. In another family, an ultra-rare de novo variant in WDR47 was found. Extensive exome survey of 2,109 single exomes of individuals with situs inversus totalis, heterotaxy, or isolated CHD identified two individuals with novel monoallelic variants in WDR47, but no further individuals with biallelic variants in DNAH17 or LMBRD1. Overall, ES of 14 case-parent trios/quattros with cardiovascular laterality defects identified rare VUS in two families in known disease-associated genes PKD1L1 and ZIC3 and suggests DNAH17, LMBRD1, and WDR47 as potential genes involved in laterality defects.
Topics: Exome; Heart Defects, Congenital; Heterotaxy Syndrome; Humans; Membrane Proteins; Nucleocytoplasmic Transport Proteins; Phenotype; Situs Inversus; Exome Sequencing
PubMed: 35474353
DOI: 10.1038/s41431-022-01100-2 -
Case Reports in Surgery 2021Biliary dyskinesia is defined by a gallbladder ejection fraction (EF) of less than 35% on HIDA scan, and these patients have shown a good response to cholecystectomy....
INTRODUCTION
Biliary dyskinesia is defined by a gallbladder ejection fraction (EF) of less than 35% on HIDA scan, and these patients have shown a good response to cholecystectomy. Management of patients with biliary colic symptoms who have a hyperkinetic gallbladder (EF > 80%) is not clearly defined. Herein, I report three cases of the symptomatic hyperkinetic gallbladder that were successfully managed with cholecystectomy. Patient 1was a 56-year-old female presented with pain in the right upper abdomen for one month. Her workup was unremarkable except for the gallbladder EF of 86%. Patient 2 was a 33-year-old female with similar symptoms and workup with gallbladder EF of 97%. Patient 3 was a 20-year-old female with right upper abdominal pain and gallbladder EF of 91%. Patients 1 and 3 had the normal US, normal CT scan, and normal EGD. Patient 2 had normal US and CT but did not undergo EGD. All three patients underwent laparoscopic cholecystectomy and had complete resolution of their symptoms.
CONCLUSION
The hyperkinetic gallbladder is a rare phenomenon, which can cause debilitating right upper quadrant pain. All three patients had an excellent response to cholecystectomy. Therefore, it is concluded that the patients with biliary colic and gallbladder EF of 80% or higher should be strongly considered for surgery.
PubMed: 33833891
DOI: 10.1155/2021/5569850 -
Medicina (Kaunas, Lithuania) Jan 2023: Although laparoscopic cholecystectomy is the preferred treatment method in patients who experience typical biliary pain with or without gallstones, medical treatment... (Observational Study)
Observational Study
: Although laparoscopic cholecystectomy is the preferred treatment method in patients who experience typical biliary pain with or without gallstones, medical treatment has not been extensively studied. Rowachol is a potent choleretic agent, comprising six cyclic monoterpenes. This study aimed to investigate the clinical improvement and changes in gallbladder ejection fraction (GBEF) by Rowachol treatment in patients with typical biliary pain. : We retrospectively reviewed 138 patients with typical biliary pain who underwent cholescintigraphy from July 2016 to April 2022. We included patients who received Rowachol for more than 2 months and underwent follow-up GBEF measurements. Finally, we analyzed pre- and post-treatment symptoms and GBEF. GBEF was calculated using the fatty meal-stimulated cholescintigraphy. : This retrospective observational study included 31 patients; their median age was 46.0 (range, 26.0-72.7) years, and 22 (71.0%) were female. Overall, 9 (29.0%) patients had gallbladder stones or sludges (maximum size: 2 mm) on initial transabdominal ultrasonography. During a median follow-up of 23.3 months, the symptoms of 21 (67.7%) patients were resolved after a median Rowachol treatment of 10.0 months. The mean GBEF was significantly improved after Rowachol treatment (initial cholescintigraphy: 42.6% ± 16.2%; follow-up cholescintigraphy: 53.0% ± 18.1%, = 0.012). In patients with a GBEF ≤35% (n = 9), Rowachol significantly increased the GBEF from 21.3% ± 8.3% to 49.1% ± 20.7% ( = 0.008). : Rowachol may have beneficial medical effects that can improve gallbladder dysfunction and treatment response.
Topics: Humans; Female; Middle Aged; Male; Retrospective Studies; Stroke Volume; Gallbladder Diseases; Monoterpenes; Pain
PubMed: 36676729
DOI: 10.3390/medicina59010105 -
American Journal of Medical Genetics.... Apr 2021TTC21B encodes the protein IFT139, a critical component of the retrograde transport system within the primary cilium. Biallelic, pathogenic TTC21B variants are...
TTC21B encodes the protein IFT139, a critical component of the retrograde transport system within the primary cilium. Biallelic, pathogenic TTC21B variants are associated with classic ciliopathy syndromes, including nephronophthisis, Jeune asphyxiating thoracic dystrophy, and Joubert Syndrome, with ciliopathy-spectrum traits such as biliary dysgenesis, primary ciliary dyskinesia, and situs inversus, and also with focal segmental glomerulosclerosis. We report a 9-year-old male with focal segmental glomerulosclerosis requiring kidney transplant, primary ciliary dyskinesia, and biliary dysgenesis, found by research-based exome sequencing to have biallelic pathogenic TTC21B variants. A sibling with isolated heterotaxy was found to harbor the same variants. This case highlights the phenotypic spectrum and unpredictable manifestations of TTC21B-related disease, and also reports the first association between TTC21B and heterotaxy, nominating TTC21B as an important new heterotaxy gene.
Topics: Abnormalities, Multiple; Cerebellum; Child; Ciliary Motility Disorders; Eye Abnormalities; Genetic Predisposition to Disease; Glomerulosclerosis, Focal Segmental; Heterotaxy Syndrome; Humans; Kidney; Kidney Diseases, Cystic; Kidney Transplantation; Male; Microtubule-Associated Proteins; Retina; Exome Sequencing
PubMed: 33547761
DOI: 10.1002/ajmg.a.62093 -
Cureus Jan 2023In a post-bariatric surgery patient with suspected biliary dyskinesia, what does an ejection fraction (EF) of 87% on hepatobiliary iminodiacetic acid (HIDA) scan...
In a post-bariatric surgery patient with suspected biliary dyskinesia, what does an ejection fraction (EF) of 87% on hepatobiliary iminodiacetic acid (HIDA) scan indicate to a healthcare provider? Conventionally, in post-bariatric patients, the gallbladder becomes hypofunctional; however, in this case, the gallbladder activity increased exponentially. Of note, there are no previously documented cases of developing an overactive gallbladder after undergoing a bariatric surgery procedure. This report aims to explore the possible associations between bariatric surgery and the development of gallbladder hyperkinesis in the early postoperative period, the diagnostic tool used to discover the source of our patient's ailment, as well as the rationality behind a surgical procedure that led to an excellent response, namely, laparoscopic cholecystectomy.
PubMed: 36843690
DOI: 10.7759/cureus.34119 -
The American Journal of Case Reports Nov 2022BACKGROUND Langerhans cell histiocytosis (LCH) is a rare condition caused by a neoplastic proliferation of myeloid cells. It can present as a single-system or...
BACKGROUND Langerhans cell histiocytosis (LCH) is a rare condition caused by a neoplastic proliferation of myeloid cells. It can present as a single-system or multi-system disorder. Worse prognosis is associated with the hematopoietic system (spleen, liver, bone marrow), which is routinely observed in multi-system disease. Because of the varied presentation of this disorder, diagnosis can be difficult, and therefore suitable treatment can be delayed. CASE REPORT We report a case of hepatic LCH in a 51-year-old man who presented with epigastric abdominal pain, with imaging demonstrating a hepatic nodule. A low ejection fraction on hepatobiliary iminodiacetic acid scan suggested chronic cholecystitis. Therefore, the patient underwent a cholecystectomy for biliary dyskinesia, in which liver nodules were noted, and biopsies were taken. The biopsies demonstrated characteristic findings of LCH along with positive immunohistochemical markers and negative BRAF V600E mutation. Radiologic and pathologic findings were consistent with LCH within the liver, associated with bile duct injury and mild biliary obstruction. The patient was placed on a cladribine regimen. His abdominal pain improved. CONCLUSIONS LCH limited to the liver is uncommon and can appear as chronic biliary disease, as was suspected in this case. Despite the poor prognosis of hematopoietic LCH, early recognition can lead to better outcome and chemotherapy susceptibility. This patient was most likely in the first stage of liver LCH, given his presentation, which could have aided his response to chemotherapy. The lack of BRAF V600E mutation could have contributed to a positive prognosis and more possibilities for treatment.
Topics: Male; Humans; Middle Aged; Proto-Oncogene Proteins B-raf; Mutation; Histiocytosis, Langerhans-Cell; Liver; Abdominal Pain
PubMed: 36404611
DOI: 10.12659/AJCR.937628 -
The Journal of International Medical... Jul 2019The objective of this study was to clarify the characteristics and management of painless biliary type sphincter of Oddi dysfunction (SOD).
OBJECTIVE
The objective of this study was to clarify the characteristics and management of painless biliary type sphincter of Oddi dysfunction (SOD).
METHODS
From June 2002 to July 2018, 12 patients who had recurrent liver dysfunction with a dilated bile duct or acute cholestasis of unknown cause without biliary pain (painless SOD) were included in this study. These patients’ characteristics were compared with those of 36 patients with biliary type SOD based on the conventional definition (criteria-based SOD).
RESULTS
Patients with painless SOD had significantly more prominent bile duct dilation than patients with criteria-based SOD (13.9 vs. 12.2 mm, respectively). Prophylactic biliary drainage was performed significantly more often in patients with painless SOD than criteria-based SOD (67% vs. 11%, respectively). The short-term effectiveness rate of endoscopic sphincterotomy, the symptom recurrence rate, and the incidence of adverse events were not significantly different between the two groups.
CONCLUSIONS
Painless SOD is a specific subtype of biliary SOD that causes recurring liver dysfunction or acute cholestasis without biliary pain. Endoscopic sphincterotomy was effective in the present study, but the relapse rate was as high as that in typical SOD.
Topics: Aged; Aged, 80 and over; Disease Management; Female; Follow-Up Studies; Humans; Male; Middle Aged; Prognosis; Sphincter of Oddi Dysfunction; Sphincterotomy, Endoscopic
PubMed: 31122105
DOI: 10.1177/0300060519848628 -
Cureus Feb 2022Celiac artery compression syndrome is a rare and poorly understood condition. Compression of the celiac artery by the median arcuate ligament causes intractable nausea,...
Celiac artery compression syndrome is a rare and poorly understood condition. Compression of the celiac artery by the median arcuate ligament causes intractable nausea, vomiting, and postprandial pain. We present a case of a 55-year-old male with a 50-pound unintentional weight loss and intractable vomiting, whose symptoms persisted despite robotic median arcuate ligament release. He later returned to the emergency department where he was found to have a low gallbladder ejection fraction on imaging indicative of biliary dyskinesia, for which he underwent a cholecystectomy. Eventually, his symptoms improved, and he was able to return to his baseline body weight.
PubMed: 35371766
DOI: 10.7759/cureus.22483 -
World Journal of Nuclear Medicine 2021The purpose of this report is to investigate the clinical importance of increased or decreased gallbladder ejection fraction (GBEF) and ultrasound findings for biliary...
Is abnormal gallbladder ejection fraction hokum? Retrospective chart review of gallbladder ejection fraction and subsequent postoperative symptom relief, surgical pathology, and current literature review.
The purpose of this report is to investigate the clinical importance of increased or decreased gallbladder ejection fraction (GBEF) and ultrasound findings for biliary dyskinesia by evaluating postsurgical symptom relief and surgical pathology. Single institution electronic medical record review was prepared for patients who underwent hepatobiliary iminodiacetic acid (HIDA) scan with GBEF and cholecystectomy between January 2013 and March 2020. Relevant data included patient demographics, ultrasound results, surgical pathology, HIDA with GBEF results, and postoperative symptom relief at the time of follow-up. Student's -test was also utilized for additional statistical analysis. A total of 67 patients underwent cholecystectomy within a 1-month period of time after HIDA with GBEF. Of these patients, 97% had findings consistent with chronic cholecystitis and 3% of the patients demonstrated both acute and chronic cholecystitis surgical pathology. Fifty-seven percent of the patients demonstrated a GBEF <38%, 30% had a GBEF >80%, and 13% had a GBEF 38%-80% with a postoperative symptom resolution around 82%, 77%, and 100%, respectively. GBEF alone may not be determinative regarding gallbladder pathology or postoperative symptom relief in patients that present with typical symptoms. Regarding dyskinetic gallbladders, elevated and decreased GBEF groups were not significantly different in terms of surgical pathology or symptom relief. These patients may benefit from being treated as a single group rather than as separate entities. Elevated and decreased GBEF groups demonstrated mostly normal ultrasound results that raised concern for the utility of ultrasound as a rule out test for gallbladder inflammation.
PubMed: 34703394
DOI: 10.4103/wjnm.WJNM_117_20