Search Results (8)

Gallstone ileus is a rare but serious complication of gallstone disease, often requiring surgical intervention. While enterolithotomy remains the standard treatment, the role of additional biliary surgery, particularly subtotal cholecystectomy, remains controversial. This study examines the management of gallstone ileus in a rural setting, where limited surgical resources and access to specialized biliary interventions pose unique challenges. We present a case series of four patients diagnosed with gallstone ileus in a rural healthcare facility. All patients underwent initial enterolithotomy for bowel obstruction relief. Surgical outcomes, complications, and the necessity for a second intervention, including subtotal cholecystectomy, were evaluated. Ever patient had a successful recovery. Of the four cases, two patients underwent a subtotal cholecystectomy. No perioperative mortality was observed, but limited access to advanced imaging and specialized biliary surgery influenced clinical decision-making. The rural setting in which these series occurred comes with its unique challenges regarding resource management and technological demands. Full article

Background: Gallstone ileus is a rare cause of bowel obstruction, often presenting with nonspecific symptoms that delay diagnosis. This study assessed the diagnostic value of CT imaging and its correlation with histopathological findings in confirmed cases. Methods: A retrospective analysis of 14 patients with surgically confirmed gallstone ileus was performed. All underwent abdominal radiography, ultrasound, and CT. Imaging findings were evaluated for calcification type, impaction site, and fistula presence. Histopathology from surgical specimens was used for correlation. Relative risk (RR) and 95% confidence intervals (CIs) were calculated, with adjustments for small sample size. Results: Rim-calcified gallstones were the most common (50%) and significantly associated with chronic inflammation (RR 1.42, 95% CI: 1.05–1.93). Cholecystoduodenal fistulas were most frequent (57.1%), with a 92.8% imaging-pathology concordance. Ileal impaction (35.7%) was linked to increased risk of bowel necrosis (RR 2.0, 95% CI: 1.1–3.6). All stones were >3 cm; two patients had recurrence. No perioperative mortality occurred. Conclusions: CT imaging demonstrates high diagnostic accuracy and strong correlation with histopathological findings in gallstone ileus. Identifying calcification patterns and impaction sites aids early diagnosis and surgical planning. Full article

Background/Objectives: Cystic fibrosis (CF) is a rare autosomal recessive genetic disease that has a progressive and multisystemic course. The spectrum and frequency of mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) vary both in European countries and in other geographical regions. The aim of our retrospective study was to present the genetic variants identified in a group of 48 CF patients from the Moldova region (Romania), as well as to establish genotype–phenotype correlations. Methods: Genetic testing was initially performed for 38 CFTR mutations, and in heterozygous patients or those in whom no mutation was detected, CFTR gene sequencing (NGS) was performed. Results: The compound heterozygous genotype was identified in 26 (54.16%) of the patients (with one of the alleles being F508del), while 22 (45.83%) patients had the homozygous F508del genotype. The F508del variant was the most frequent (69.79%), followed by G542X (6.25%, 6/96). Several new variants were also identified that had not been reported in other studies from Romania (R1158X, K598*, R347H, c.2589_2599del, R496H, and CFTRdele2). Phenotypic manifestations in patients with CFTR class I, II, III and VII variants (homozygous and compound heterozygous) were more severe compared to those in patients with CFTR class IV, V and VI mutations, with the data obtained being consistent with those in the literature. Respiratory tract involvement was present in 77.08% of the patients, being more frequent in patients with the compound heterozygous genotype compared to the homozygous F508del genotype. Most patients had exocrine pancreatic insufficiency (EPI) (85.41%). Gastrointestinal manifestations included hepatocytolysis (66.66%) and biliary cirrhosis (0.41%). Meconium ileus was detected in 18.75% of patients, all with a compound heterozygous genotype. Conclusions: We compared the results obtained with data from the literature and correlated the detected CFTR variant (genotype) with the phenotypic manifestations, highlighting certain particularities present in some patients. Genetic testing allows for early diagnosis and adapted management, including personalized treatment for each patient. Identification of novel unclassified CFTR variants still remains a challenge for clinicians. NGS-based screening of heterozygous healthy carriers is important for both genetic counseling and prenatal diagnosis. Full article

Introduction: Bouveret syndrome, a rare and often underdiagnosed variant of gallstone ileus, is characterized by the presence of a large gallstone impacted in the proximal duodenum, resulting in significant gastric outlet obstruction and aerobilia. Early identification of Bouveret syndrome is crucial for developing an appropriate surgical strategy. Case 1: A 76-year-old female underwent a contrast-enhanced abdominal CT scan, which revealed a cholecysto-duodenal fistula with a 3.9 cm × 4.0 cm × 4.0 cm gallstone located in the proximal duodenum, along with a distended, fluid-filled stomach and aerobilia. Intraoperatively, due to chronic inflammation and adhesion between the gallbladder and duodenum, a cholecystectomy and fistula repair were performed. Case 2: A 72-year-old female presented with a gastroduodenal passage obstruction confirmed by imaging, which identified a duodeno-biliary fistula. The radiological examination showed oval filling defects in the duodenal bulb consistent with Bouveret’s syndrome, with the largest stone measuring approximately 6 cm in diameter. An enterotomy was performed for stone extraction and was followed by cholecystectomy and duodenal repair with omentoplasty. Conclusions: Bouveret’s syndrome is a rare but clinically significant condition that should be considered in patients presenting with signs of upper gastrointestinal obstruction, particularly in those with a history of chronic cholelithiasis. Early recognition and prompt surgical intervention are essential for obtaining optimal patient outcomes. Full article

Acute calculus cholecystitis (ACC) is increasing in frequency within an ageing population, in which biliary tract infection, including cholecystitis and cholangitis, is the second most common cause of sepsis, with higher morbidity and mortality rates. Patient’s critical conditions, such as septic shock or anaesthesiology contraindication, may be reasons to avoid laparoscopic cholecystectomy—the first-line treatment of ACC—preferring gallbladder drainage. It can aid in patient’s stabilization with also the benefit of identifying the causative organism to establish a targeted antibiotic therapy, especially in patients at high risk for antimicrobial resistance such as healthcare-associated infection. Nevertheless, a recent randomized clinical trial showed that laparoscopic cholecystectomy can reduce the rate of major complications compared with percutaneous catheter drainage in critically ill patients too. On the other hand, among the possibilities to control biliary sepsis in non-operative management of ACC, according to recent meta-analysis, endoscopic gallbladder drainage showed better clinical success rate, and it is gaining popularity because of the potential advantage of allowing gallstones clearance to reduce recurrences of ACC. However, complications that may arise, although rare, can worsen an already weak clinical condition, as happened to the high surgical-risk elderly patient taken into account in our case report. Full article

Background: Gallstone or biliary ileus is a late complication of gallstone disease. It accounts for 1%–4% of all bowel obstructions and is more common in elderly patients. The preferred treatment option is to mechanically remove the impacted stones. It is done surgically using open or laparoscopic approach and rarely, when stones are impacted in the colon, endoscopically. In this paper we present five consecutive cases of gallstone ileus and describe possible diagnostic and minimally invasive treatment options. Case presentation: During a five-month period a total of five patients were treated for gallstone ileus. All patients were female and from 48 to 87 years of age. Symptoms were not specific and common for all small bowel obstructions. Upon admission the patients also had unspecific laboratory findings—neutrophilic leukocytosis and various C-reactive protein concentrations, ranging from 8 to 347 mg/L. According to the hospital protocol, all patients initially underwent an abdominal ultrasound, which was inconclusive, and therefore every patient additionally had a CT scan with intravenous contrast. After these two diagnostic modalities one patient still did not have the definitive gallstone ileus diagnosis, as the ectopic stone was not visible. Four patients in our case series were treated using minimally invasive methods: in one case the stone was removed endoscopically, and laparoscopically in the other three. Treatment outcomes were good in four cases as the patients fully recovered, however one patient suffered a massive cerebral infarction after the operation and passed away. Conclusions: Gallstone ileus is a rare and difficult-to-diagnose condition. Management of these patients in every case should be individualized, as there are many options, each with their own advantages and disadvantages. We show that minimally invasive treatment such as colonoscopy or laparoscopy is possible in these cases. Full article

Precision medicine may significantly contribute to rapid disease diagnosis and targeted therapy, but relies on the availability of detailed, subject specific, clinical information. Proton nuclear magnetic resonance (¹H–NMR) spectroscopy of body fluids can extract individual metabolic fingerprints. Herein, we studied 64 patients admitted to the Florence main hospital emergency room with severe abdominal pain. A blood sample was drawn from each patient at admission, and the corresponding sera underwent ¹H–NMR metabolomics fingerprinting. Unsupervised Principal Component Analysis (PCA) analysis showed a significant discrimination between a group of patients with symptoms of upper abdominal pain and a second group consisting of patients with diffuse abdominal/intestinal pain. Prompted by this observation, supervised statistical analysis (Orthogonal Partial Least Squares–Discriminant Analysis (OPLS-DA)) showed a very good discrimination (>90%) between the two groups of symptoms. This is a surprising finding, given that neither of the two symptoms points directly to a specific disease among those studied here. Actually herein, upper abdominal pain may result from either symptomatic gallstones, cholecystitis, or pancreatitis, while diffuse abdominal/intestinal pain may result from either intestinal ischemia, strangulated obstruction, or mechanical obstruction. Although limited by the small number of samples from each of these six conditions, discrimination of these diseases was attempted. In the first symptom group, >70% discrimination accuracy was obtained among symptomatic gallstones, pancreatitis, and cholecystitis, while for the second symptom group >85% classification accuracy was obtained for intestinal ischemia, strangulated obstruction, and mechanical obstruction. No single metabolite stands up as a possible biomarker for any of these diseases, while the contribution of the whole ¹H–NMR serum fingerprint seems to be a promising candidate, to be confirmed on larger cohorts, as a first-line discriminator for these diseases. Full article

Prospective studies concerning liver disease in pediatric cystic fibrosis patients are scarce. The present study aimed to describe the prevalence and clinical expression of cystic fibrosis - related liver disease, in a cohort of 62 pediatric patients. Descriptive study, resulting from the prospective evaluation, between 1994 and 2009, of 62 pediatric patients (age <18 years) with cystic fibrosis. The follow-up protocol included a clinical assessment every 2 months, liver function tests every 6 months and annual liver ultrasonography. The cumulative prevalence of liver disease was 11.2% (7/62 cases). All patients had ΔF508 mutation and pancreatic insufficiency, none had meconium ileus. The liver involvement became clinically evident at a mean age of 8 years (3-15 years), revealed by hepatomegaly or hepatosplenomegaly (3 cases) and/ or abnormalities of liver function tests (3 cases) changes of liver ultrasound (7 cases) with evidence of portal hypertension (2 cases). Four patients were submitted to liver biopsy; biliary fibrosis was documented in one case, focal biliary cirrhosis in 2 cases and multilobular cirrhosis in another case. Within a median 11.6 years follow-up period (all patients under UDCA therapy after liver disease diagnosis), progression of liver disease was observed in 2 patients; one patient developed refractory variceal bleeding and progressive hepatic failure, requiring liver transplant. The results of the present study agree with those of previous pediatric studies, further documenting clinical expression of liver disease in CF patients, which is usually detected in the first decade of life and emphasize the contribution of ultrasound to early diagnosis of liver involvement. Moreover, although advanced liver disease is a relatively rare event, early isolated liver transplantation may have to be considered at this age group. Full article