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European Journal of Medical Genetics Oct 2023Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR MIM #242150) is a very rare disorder caused by pathogenic loss-of-function variants in the AP1B1 gene....
Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR MIM #242150) is a very rare disorder caused by pathogenic loss-of-function variants in the AP1B1 gene. So far, nine patients have been reported in the literature and more clinical descriptions are essential to further delineate the phenotype of KIDAR. Here we report a new patient with KIDAR and compare the clinical findings with those from the other published cases with molecular confirmation. We describe a 14-year-old male born to non-consanguineous parents with unremarkable family history. The patient had fetal ascites, neonatal pancreatic insufficiency with consequent failure to thrive, feeding difficulties, recurrent infections and sepsis. The skin examination was remarkable for an ichthyosis with conspicuous palmoplantar keratoderma, sparse and brittle hair with alopecia on the vertex and slight bilateral ectropion. He had short stature, thin build, frontal bossing, small teeth and prominent abdomen. Additional features were congenital profound bilateral sensorineural deafness, photosensitivity and photophobia. Mild global developmental delay was noted. Persistent mild anemia, neutropenia, thrombocytopenia, and low serum copper, ceruloplasmin and growth hormone were also present. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and thin corpus callosum. Genetic testing revealed a homozygous deletion in the AP1B1 gene, possibly including the same exons as a previously reported deletion. Comparing the phenotypes of all reported individuals, they are highly concordant and major features are enteropathy with feeding difficulties, failure to thrive, ichthyosis, palmoplantar keratoderma, sensorineural deafness and sparse and brittle hair. Here we report other features present in more than one patient that could be part of the phenotypic spectrum and suggest copy number variation analysis to be performed alongside sequencing of the AP1B1 gene in case of suspicion.
PubMed: 37657632
DOI: 10.1016/j.ejmg.2023.104827 -
The British Journal of Nutrition Jan 2024The benefits of branched-chain amino acid (BCAA) administration after hepatic intervention in patients with liver diseases remain unclear. We conducted a systematic... (Meta-Analysis)
Meta-Analysis Review
The benefits of branched-chain amino acid (BCAA) administration after hepatic intervention in patients with liver diseases remain unclear. We conducted a systematic review and meta-analysis to evaluate the effects of BCAA on patients undergoing hepatectomy, trans-arterial embolisation and radiofrequency ablation. Relevant randomised controlled trials (RCT) were obtained from PubMed, EMBASE and Cochrane Library databases. A meta-analysis was performed to calculate the pooled effect size by using random-effects models. The primary outcomes were survival and tumour recurrence. The secondary outcomes were hospital stay, nutrition status, biochemistry profile, complication rate of liver treatment and adverse effect of BCAA supplementation. In total, eleven RCT involving 750 patients were included. Our meta-analysis showed no significant difference in the rates of tumour recurrence and overall survival between the BCAA and control groups. However, the pooled estimate showed that BCAA supplementation in patients undergoing hepatic intervention significantly increased serum albumin (mean difference (MD): 0·11 g/dl, 95 % CI: 0·02, 0·20; 5 RCT) at 6 months and cholinesterase level (MD: 50·00 U/L, 95 % CI: 21·08, 78·92; 1 RCT) at 12 months and reduced ascites incidence (risk ratio: 0·39, 95 % CI: 0·21, 0·71; 4 RCT) at 12 months compared with the control group. Additionally, BCAA administration significantly increased body weight at 6 months and 12 months and increased arm circumference at 12 months. In conclusion, BCAA supplementation significantly improved the liver function, reduced the incidence of ascites and increased body weight and arm circumference. Thus, BCAA supplementation may beneficial for selected patients undergoing liver intervention.
Topics: Humans; Ascites; Amino Acids, Branched-Chain; Neoplasm Recurrence, Local; Liver; Dietary Supplements; Body Weight
PubMed: 37642137
DOI: 10.1017/S0007114523001885 -
International Journal of Surgery... Nov 2023Staging laparoscopy for gastric cancer is recommended to assess the tumor's locoregional extension and exclude peritoneal disease. As there is no consensus on optimizing...
BACKGROUND
Staging laparoscopy for gastric cancer is recommended to assess the tumor's locoregional extension and exclude peritoneal disease. As there is no consensus on optimizing the procedure's diagnostic accuracy, we aimed to systematically review the literature on operative techniques, followed by peritoneal lavage fluid assessment in gastric cancer patients. Specifically, we sought to indicate the most common characteristics of the procedure and cytological evaluation.
METHODS
This study was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). The protocol for this systematic review was registered on PROSPERO database (CRD: 42022306746). On September 2022, a search was carried out using Embase, Medline ALL, Cochrane Central Register of Controlled Trials, and Web of Science Core Collection.
RESULTS
The search identified 1632 studies on staging laparoscopy and 2190 studies on peritoneal fluid assessment. Some 212 studies were included. Open Hasson was the method of choice in accessing the peritoneal cavity in 65% of the studies, followed by establishing a pneumoperitoneum at 10-12 mmHg in 52% of reports. Most frequently, the patient was positioned supine (70%), while a 30° scope and three ports were used to assess the peritoneal cavity clockwise (72%, 77%, and 85%, respectively). Right and left upper abdomen quadrants were the predominant area of laparoscopic exploration (both 65%), followed by the primary tumor region (54%), liver and pelvis (both 30%), and small bowel and spleen (19% and 17%, respectively). Regions of peritoneal lavage and aspiration were limited to the pelvis (50%), followed by right and left upper abdomen quadrants (37.5% and 50%, respectively). No studies compared different methods of operative techniques or analysis of ascites/fluid.
CONCLUSIONS
This study indicates a high heterogeneity in the technique of staging laparoscopy and peritoneal fluid assessment in gastric cancer patients. Further research and initiatives to reach a consensus on the standardization of the procedure are warranted.
Topics: Humans; Stomach Neoplasms; Ascitic Fluid; Neoplasm Staging; Laparoscopy; Peritoneal Lavage
PubMed: 37581636
DOI: 10.1097/JS9.0000000000000632 -
Ultraschall in Der Medizin (Stuttgart,... Jun 2024To assess the prevalence of sonographic signs in women with uterine sarcoma. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To assess the prevalence of sonographic signs in women with uterine sarcoma.
MATERIALS AND METHODS
A systematic review and meta-analysis were performed. Five electronic databases were searched from inception to June 2022 for all studies allowing calculation of the prevalence of sonographic signs in women with uterine sarcoma. Pooled prevalence with 95% confidence intervals was calculated for each sonographic sign and was a priori defined as "very high" when it was ≥ 80%, "high" when it ranged from 80% to 70%, and less relevant when it was ≤ 70%.
RESULTS
6 studies with 317 sarcoma patients were included. The pooled prevalence was: · 25.0% (95%CI:15.4-37.9%) for absence of visibility of the myometrium. · 80.5% (95%CI:74.8-85.2%) for solid component. · 78.3% (95%CI:59.3-89.9%) for inhomogeneous echogenicity of solid component. · 47.9% (95%CI:41.1-54.8%) for cystic areas. · 80.7% (95%CI:68.3-89.0%) for irregular walls of cystic areas. · 72.3% (95%CI:16.7-97.2%) for anechoic cystic areas. · 54.8% (95%CI:34.0-74.1%) for absence of shadowing. · 73.5% (95%CI:43.3-90.9%) for absence of calcifications. · 48.7% (95%CI:18.6-79.8%) for color score 3 or 4. · 47.3% (95%CI:37.0-57.8%) for irregular tumor borders. · 45.4% (95%CI:27.6-64.3%) for endometrial cavity not visualizable. · 10.9% (95%CI:3.5-29.1%) for free pelvic fluid. · 6.4% (95%CI:1.1-30.2%) for ascites. · 21.2% (95%CI:2.1-76.8%) for intracavitary process. · 81.5% (95%CI:56.1-93.8%) for singular lesion..
CONCLUSION
Solid component, irregular walls of cystic areas, and singular lesions are signs with very high prevalence, while inhomogeneous echogenicity of solid component, anechoic cystic areas, and absence of calcifications are signs with high prevalence. The remaining signs were less relevant.
Topics: Humans; Female; Uterine Neoplasms; Sarcoma; Ultrasonography; Myometrium; Prevalence; Uterus
PubMed: 37562447
DOI: 10.1055/a-2151-9205 -
Digestive Diseases and Sciences Oct 2023Transjugular liver biopsy (TJLB) procedurally samples liver tissue through the internal jugular vein. It is indicated in the presence of coagulopathies and/or ascites. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Transjugular liver biopsy (TJLB) procedurally samples liver tissue through the internal jugular vein. It is indicated in the presence of coagulopathies and/or ascites.
AIMS
This meta-analysis aimed to assess the safety and efficacy of TJLB in children.
METHODS
A literature search of several databases was conducted from inception to August 2022. Eligible studies reported pediatric patients (< 18 years old) who underwent TJLB. The pooled proportion was analyzed using a random-effects model. This review was registered in PROSPERO (CRD42022354421).
RESULTS
From 921 initial studies screened, eight met the eligibility criteria, with a total of 361 pediatric patients who underwent 374 TJLBs. All eight studies reported pooled rates of technical success at 99.1% (95% CI 0.982, 1.001; I = 0%) and histological adequacy of sampling at 97.5% (95% CI 0.954, 0.995; I = 27.66%). A total of 49 complications were reported across six studies, the most common being bleeding from the entry site (38.78%), fevers for less than 24 h (12.24%), red blood cells transfusion requirement (10.2%), supraventricular tachycardia (8.16%), and pain requiring analgesia (8.16%).
CONCLUSION
Pediatric TJLB demonstrates high rates of technical success and adequate liver core biopsy samples, with a low rate of complications. These results suggest that TJLB is an effective method for diagnostic yield and postprocedural outcomes, especially in patients with preexisting coagulopathies and ascites where percutaneous liver biopsy is contraindicated. Additional studies evaluating larger groups of pediatric patients may provide further support for the use of TJLB in this population.
Topics: Humans; Child; Adolescent; Ascites; Liver; Biopsy; Biopsy, Needle; Digestive System Surgical Procedures; Pain; Liver Diseases; Retrospective Studies
PubMed: 37555881
DOI: 10.1007/s10620-023-08071-4 -
The American Journal of the Medical... Oct 2023Endometriosis-associated pleural effusion is a rare occurrence with poorly defined clinical characteristics.
BACKGROUND
Endometriosis-associated pleural effusion is a rare occurrence with poorly defined clinical characteristics.
METHODS
A systematic review was performed to examine all articles on endometriosis-associated pleural effusion extracted from 4 databases (PubMed, Embase, Web of Science and Scopus) from inception until November 2022.
RESULTS
A total of 142 articles (isolated cases and small retrospective series) involving 176 patients (median age 33 years) with endometriosis-associated pleural effusion were included. The most frequent symptoms were dyspnea (67%), chest pain (55%) and abdominal pain (40%). Pleural effusion was predominantly unilateral (89%), right-sided (88.5%) and massive (56%). Ascites was evident in 42% of the cases. Pleural fluid had a bloody appearance in 99% of cases and always met the exudate criteria. Pleural fluid cytology identified only 9% of the patients, with pleural biopsy being the most common diagnostic procedure (74%). Most patients were treated with hormones (76%), thoracic surgery (60%) and abdominal surgery (27%). Effusion recurrence was observed in 26% of cases after a median follow-up of 1 year.
CONCLUSIONS
The presence of right-sided hemorrhagic pleural effusion in a young woman warrants an assessment for the possibility of endometriosis. Despite conventional treatment, effusion recurs in approximately a quarter of patients.
Topics: Female; Humans; Adult; Endometriosis; Retrospective Studies; Pleural Effusion; Ascites; Exudates and Transudates
PubMed: 37553023
DOI: 10.1016/j.amjms.2023.08.003 -
The Cochrane Database of Systematic... Aug 2023Transjugular intrahepatic portosystemic shunt (TIPS) is a widely used procedure for management of uncontrolled upper gastrointestinal bleeding and refractory ascites in... (Review)
Review
BACKGROUND
Transjugular intrahepatic portosystemic shunt (TIPS) is a widely used procedure for management of uncontrolled upper gastrointestinal bleeding and refractory ascites in people with liver cirrhosis. However, nearly half of the people experience shunt dysfunction and recurrent symptoms within one year of the procedure. Expanded polytetrafluoroethylene (ePTFE)-covered stents are assumed to decrease shunt dysfunction by approximately 20% to 30%.
OBJECTIVES
To evaluate the benefits and harms associated with the use of expanded polytetrafluoroethylene (ePTFE)-covered stents versus bare stents in transjugular intrahepatic portosystemic shunts (TIPSs) for managing people with liver cirrhosis.
SEARCH METHODS
We used standard, extensive Cochrane search methods. The latest search date was 28 February 2023.
SELECTION CRITERIA
Randomised clinical trials comparing ePTFE-covered stents versus bare stents in TIPS for treatment of people with liver cirrhosis.
DATA COLLECTION AND ANALYSIS
We used standard Cochrane methods. Our primary outcomes were 1. all-cause mortality, 2. procedure-related complications, and 3. health-related quality of life. Our secondary outcomes were 4. upper gastrointestinal bleeding, 5. recurrence of ascites, 6. hepatic encephalopathy, 7. kidney failure, 8. early thrombosis, 9. non-serious adverse events, and 10. shunt dysfunction. We used GRADE to assess certainty of evidence. We analysed outcome data at the maximum follow-up, except for the 'early thrombosis' outcome for which it was within 12 weeks after the TIPS procedure.
MAIN RESULTS
We included four trials with 565 randomised participants (age range: 18 to 75 years; male range: 63.6% to 75.0%). A total of 527 participants provided data for analyses because of losses to follow-up. Two trials were conducted in China; one in France; and one in France, Spain, and Canada. Participants were classified with cirrhosis Child-Pugh class A, B, or C, and for some, the class was not reported. We used intention-to-treat principle (four trials) and per-protocol analysis (one trial) to meta-analyse the data. One trial compared ePTFE-covered stents versus bare stents of the same diameter and three trials compared ePTFE-covered stents versus stents of different diameters. ePTFE-covered stents versus bare stents of the same diameter One trial with 258 participants compared 8 mm covered stent versus 8 mm bare stent. Mortality in the covered stent group is possibly lower than in the bare stent group (risk ratio (RR) 0.63, 95% confidence interval (CI) 0.43 to 0.92; low-certainty evidence). Upper gastrointestinal bleeding (RR 0.54, 95% CI 0.35 to 0.84), recurrence of ascites (RR 0.42, 95% CI 0.20 to 0.87), and shunt dysfunction (RR 0.42, 95% CI 0.28 to 0.61) occurred more often in the bare stent group than in the covered stent group (all low-certainty evidence). There was no difference in hepatic encephalopathy between groups (RR 1.10, 95% CI 0.76 to 1.61; very low-certainty evidence). The trial did not report data on procedure-related complications, health-related quality of life, early thrombosis, and segmental liver ischaemia (a non-serious adverse event). ePTFE-covered stents versus bare stents of different stent diameters Three trials compared ePTFE-covered stents versus bare stents of different diameters (10.5 (standard deviation (SD) 0.9) mm versus 11.7 (SD 0.8) mm; 8 mm versus 10 mm; and one trial used 10-mm stents that could be dilated from 8 mm to 10 mm). There was no evidence of a difference between the ePTFE-covered stents versus bare stents groups in mortality (RR 0.75, 95% CI 0.48 to 1.16; 3 trials, 269 participants), procedure-related complications (RR 0.53, 95% CI 0.05 to 5.57; 1 trial, 80 participants), upper gastrointestinal bleeding (RR 0.46, 95% CI 0.15 to 1.38; 3 trials, 269 participants), hepatic encephalopathy (RR 0.93, 95% CI 0.66 to 1.30; 3 trials, 269 participants), and kidney failure (RR 7.59, 95% CI 0.40 to 143.92; 1 trial, 121 participants) (all very low-certainty evidence). Recurrence of ascites (RR 0.30, 95% CI 0.11 to 0.85; 3 trials, 269 participants; low-certainty evidence), shunt dysfunction (RR 0.50, 95% CI 0.28 to 0.92; 3 trials, 269 participants; low-certainty evidence), and early thrombosis (RR 0.28, 95% CI 0.09 to 0.82; I = 0%; 3 trials, 261 participants; very low-certainty evidence) occurred more often in the bare stents group. There was no evidence of a difference in segmental liver ischaemia (RR 5.25, 95% CI 0.26 to 106.01; 1 trial, 80 participants; very low-certainty evidence). No trial presented data on health-related quality of life. Funding One trial did not clearly report funding sources. The remaining three trials declared that they had no funding with vested interests.
AUTHORS' CONCLUSIONS
Based on the small number of trials with insufficient sample size and events, and study limitations, we assessed the overall certainty of evidence in the predefined outcomes as low or very low. Therefore, we are uncertain which of the two interventions (ePTFE-covered stents or bare stents of the same diameter and ePTFE-covered stents versus bare stents of different stent diameters) is effective for the evaluated outcomes. None of the four trials reported data on health-related quality of life, and data on complications were either missing or rarely reported. We lack high-quality trials to evaluate the role of ePTFE-covered stents for TIPS for managing people with liver cirrhosis.
Topics: Adolescent; Adult; Aged; Humans; Male; Middle Aged; Young Adult; Ascites; Gastrointestinal Hemorrhage; Hepatic Encephalopathy; Liver Cirrhosis; Polytetrafluoroethylene; Portasystemic Shunt, Transjugular Intrahepatic; Quality of Life; Stents; Female; Randomized Controlled Trials as Topic
PubMed: 37531575
DOI: 10.1002/14651858.CD012358.pub2 -
Journal of Gastroenterology and... Oct 2023Progression of liver disease in cirrhosis is associated with an increased incidence of portal vein thrombosis (PVT) in cirrhosis. However, evidence suggests that... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND AND AIM
Progression of liver disease in cirrhosis is associated with an increased incidence of portal vein thrombosis (PVT) in cirrhosis. However, evidence suggests that spontaneous recanalization of PVT may occur even without anti-thrombotic therapy. Thus, the present meta-analysis was conducted to study the natural history of PVT in cirrhosis, facilitating decisions regarding anticoagulation.
METHODS
Three electronic databases were searched from 2000 to August 2022 for studies reporting the outcome of PVT in cirrhotics without anticoagulation. The pooled proportions with their 95% confidence intervals (CIs) were calculated using a random-effect model.
RESULTS
A total of 26 studies (n = 1441) were included in the final analysis. Progression of PVT on follow-up was seen in 22.2% (95% CI 16.1-28.4), while 77.7% (95% CI 71.6-83.9) remained non-progressive (improved or stable). The most common outcome was a stable PVT with a pooled event rate of 44.6% (95% CI 34.4-54.7). The pooled rates of regression and complete recanalization of PVT in cirrhotics were 29.3% (95% CI 20.9-37.7) and 10.4% (95% CI 5.0-15.8), respectively. On follow-up after improvement, pooled recurrence rate of PVT was 24.0% (95% CI 14.7-33.4). MELD score, and presence of ascites had a negative association, while a longer follow-up duration had positive association with PVT regression.
CONCLUSION
Approximately 25% of the cases of PVT in cirrhosis are progressive, 30% cases improve, and 45% remain stable. Future studies are needed to analyze the predictors of spontaneous regression.
Topics: Humans; Portal Vein; Anticoagulants; Venous Thrombosis; Liver Cirrhosis; Thrombosis
PubMed: 37354011
DOI: 10.1111/jgh.16263 -
Clinical Microbiology and Infection :... Nov 2023The clinical features and predictors of Clostridioides difficile infection overlap with many conditions. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The clinical features and predictors of Clostridioides difficile infection overlap with many conditions.
OBJECTIVES
We performed a systematic review to evaluate the diagnostic utility of clinical features (clinical examination, risk factors, laboratory tests, and radiographic findings) associated with C. difficile.
METHODS
Systematic review and meta-analysis of diagnostic features for C. difficile.
DATA SOURCES
MEDLINE, EMBASE, CINAHL, and Cochrane databases were searched up to September 2021.
STUDY ELIGIBILITY CRITERIA
Studies that reported clinical features of C. difficile, a valid reference standard test for confirming diagnosis of C. difficile, and a comparison among patients with a positive and negative test result.
PARTICIPANTS
Adult and paediatric patients across diverse clinical settings.
OUTCOMES
Sensitivity, specificity, likelihood ratios.
REFERENCE STANDARD
Stool nucleic acid amplification tests, enzyme immunoassays, cell cytotoxicity assay, and stool toxigenic culture.
ASSESSMENT OF RISK OF BIAS
Rational Clinical Examination Series and Quality Assessment of Diagnostic Accuracy Studies-2.
METHODS OF DATA SYNTHESIS
Univariate and bivariate analyses.
RESULTS
We screened 11 231 articles of which 40 were included, enabling the evaluation of 66 features for their diagnostic utility for C. difficile (10 clinical examination findings, 4 laboratory tests, 10 radiographic findings, prior exposure to 13 antibiotic types, and 29 clinical risk factors). Of the ten features identified on clinical examination, none were significantly clinically associated with increased likelihood of C. difficile infection. Some features that increased likelihood of C. difficile infection were stool leukocytes (LR+ 5.31, 95% CI 3.29-8.56) and hospital admission in the prior 3 months (LR+ 2.14, 95% CI 1.48-3.11). Several radiographic findings also strongly increased the likelihood of C. difficile infection like ascites (LR+ 2.91, 95% CI 1.89-4.49).
DISCUSSION
There is limited utility of bedside clinical examination alone in detecting C. difficile infection. Accurate diagnosis of C. difficile infection requires thoughtful clinical assessment for interpretation of microbiologic testing in all suspected cases.
Topics: Humans; Clostridium Infections; Clostridioides difficile; Risk Factors; Sensitivity and Specificity; Feces; Adult; Child
PubMed: 37327874
DOI: 10.1016/j.cmi.2023.06.010 -
Archives of Gynecology and Obstetrics Nov 2023To assess whether endometriosis (EMs) was related to systematic and/or local deviations of cluster of differentiation (CD)4 + T cells. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To assess whether endometriosis (EMs) was related to systematic and/or local deviations of cluster of differentiation (CD)4 + T cells.
METHODS
Until November 2022, we enrolled a total of 1363 EMs and 1564 healthy women from 32 studies who met the inclusion criteria.
RESULTS
After systematically retrieving the literature, we identified 1086 citations and 32 case-control studies were enrolled. Cumulative results suggested that there were insignificant deviations of CD4 + T cells during peripheral blood (PB) between EMs and healthy women (RR: - 0.83, I = 99%, p = 0.65), also no statistically significant difference was found between mild and severe EMs (RR: 3.19, I = 94%, p = 0.19). We also found insignificant deviations of CD4 + /CD8 + during PB between EMs and healthy women (RR: 0.09, I = 99%, p = 0.39), and between mild and severe EMs (RR: - 0.16, I = 99%, p = 0.29). The results might suggest that there was no significant correlation between EMs and systematic deviations of CD4 + T cells. When it came to local deviation during peritoneal fluid (PF), the polled results suggested that the frequency of CD4 + T cells during EMs was significantly lower than healthy women (RR: - 5.38, I = 93%, p = 0.01), and the ratio of CD4 + /CD8 + during EMs was significantly lower than healthy women (RR: - 0.13, I = 0%, p < 0.0001). However, there were insignificant deviations of CD4 + during PF between mild and severe EMs (RR: 1.65, I = 53%, p = 0.15), also there was an insignificant difference of CD4 + /CD8 + between mild and severe EMs (RR: - 0.09, I = 14%, p = 0.19). EMs might be closely related to local deviations of CD4 + T cells.
CONCLUSION
There was no obvious correlation between EMs and systematic deviations of CD4 + T cells, EMs might be closely related to local deviations of CD4 + T cells. Further study on the functional deviations and subpopulation distribution of CD4 + T cells is urgently needed.
Topics: Female; Humans; Ascitic Fluid; Endometriosis; Lymphocyte Count; T-Lymphocytes; Case-Control Studies
PubMed: 36840769
DOI: 10.1007/s00404-023-06964-3