• MeSH
• Abdominal Pain etiology   MeSH
• Cholecystitis diagnostic imaging   MeSH
• Cholelithiasis * diagnostic imaging   MeSH
• Middle Aged MeSH
• Humans MeSH
• Primary Health Care MeSH
• Ultrasonography * methods   MeSH
• Point-of-Care Systems MeSH
• Gallbladder diagnostic imaging   pathology   MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Female MeSH
• Publication type
• Case Reports MeSH

Úvod: Cholecystektomie patří k nejčastějším operacím na chirurgických pracovištích. Komplikace vzniklé po odstranění žlučníku bývají zejména krvácení, infekce vč. abscesu v lůžku žlučníku či v břišní stěně, dehiscence rány, akutní pankreatitida nebo poranění žlučových cest. V dalším průběhu se mohou objevit kýly v jizvě jak po laparoskopické, tak otevřené cholecystektomii, striktury žlučových cest a příznaky typu tzv. postcholecystektomického syndromu. Přítomnost reziduálních žlučových konkrementů je vzácná, statisticky uváděna v 0,08–0,3 %. Kazuistika: Cílem publikace je prezentace případu pacientky, kterou jsme převzali do péče 7 let po laparoskopické cholecystektomii indikované pro cholecystitidu se zaklíněnou lithiázou v krčku žlučníku, prokázanou na ultrazvuku. Na našem oddělení byla pacientka léčena pro recidivující píštěl v jizvě pravého hypochondria. K definitivnímu zhojení od primo manifestace píštěle došlo přes opakované revize až po lokalizaci a odstranění retinovaného žlučového kamene. Závěr: Zásluhou použití širšího spektra diagnostických metod a současně pomyšlením na ojedinělé příčiny vzniku recidivující hnisavé kolekce s píštělí jsme cíleně pátrali po infekčním zdroji. Až perioperační skiaskopie s nástřikem kontrastní látky identifikovala přítomnost retinovaného žlučového kamene. Ten se podařilo exstirpovat z prostoru mezi pobřišnicí a mezižeberními svaly, a pacientku tím zbavit potíží.

Introduction: Cholecystectomy is one of the most common operations in surgical departments. Complications after gallbladder removal are mainly bleeding, infection including abscess in the gallbladder bed or in the abdominal wall, wound dehiscence, acute pancreatitis or injury of the bile ducts. In the further course, hernias in the scar may appear after both laparoscopic and open cholecystectomy, strictures of the bile ducts and symptoms of the so-called postcholecystectomy syndrome. The presence of residual gallstones is rare, statistically reported in 0.08–0.3%. Case report: The goal of our message is to present the case of a patient taken into our care 7 years after laparoscopic cholecystectomy indicated for cholecystitis with wedged lithiasis in the gallbladder neck, proven by ultrasound. In our department, the patient was treated for a re-current fistula in the scar of the right subcostal area. Definitive healing from the initial manifestation of the fistula occurred despite repeated revisions after the precise localization and removal of the retained gallstone. Conclusion: Thanks to the use of an extensive spectrum of diagnostic methods and at the same time thinking about the rare causes of a recurrent purulent collection with a fistula, we purposefully searched for an infectious source. Only perioperative radiography with injection of contrast material identified the presence of a retained gallstone. It was possible to extirpate it from the space between the intercostal muscles and the peritoneum, thereby relieving the patient of her problems.

• MeSH
• Cholecystectomy methods   MeSH
• Cicatrix surgery   complications   MeSH
• Cutaneous Fistula * surgery   diagnosis   etiology   MeSH
• Humans MeSH
• Tomography, X-Ray Computed methods   MeSH
• Postoperative Complications diagnosis   etiology   classification   MeSH
• Gallstones * diagnostic imaging   diagnosis   complications   prevention & control   MeSH
• Check Tag
• Humans MeSH
• Female MeSH
• Publication type
• Case Reports MeSH

AIMS/BACKGROUND: Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease caused by pathogenic variants in the UBR1 gene. JBS is usually suspected based on characteristic anomalies, but only genetic testing provides a definitive diagnosis. Since most variants are inherited from the parents, we aimed to identify the causal variants in a Czech proband with clinically suspected JBS and perform segregation analysis. METHODS: A proband with clinically suspected JBS underwent clinical exome sequencing (CES). Sanger sequencing was used for the validation, characterization, and segregation of variants in the family. The variants were also characterized using quantitative real-time PCR (qPCR) and in silico analysis. RESULTS: Using CES in the proband, we identified two novel causal variants in the UBR1 gene, c.3482A>C and c.3509+6T>C. Although the variants were found in trans, neither was detected in the parents. Sanger sequencing of the cDNA revealed that the novel variant c.3509+6T>C caused activation of the non-canonical GC donor splice site. The inclusion of 70 bp of the intronic sequence generated a frameshift and a premature termination codon leading to nonsense-mediated decay, as detected by qPCR. In silico protein structural analysis showed that the novel missense variant c.3482A>C in the zinc-stabilized domain RING-H2 altered a highly conserved zinc-coordinating histidine by proline. CONCLUSION: To the best of our knowledge, we report the first molecular confirmation of JBS in the Czech Republic and the first identification of two de novo causal variants in two alleles. Our findings also expand the spectrum of pathogenic variants in the UBR1 gene.

• MeSH
• Anus, Imperforate * genetics   MeSH
• Ectodermal Dysplasia * genetics   MeSH
• Hypothyroidism * genetics   MeSH
• Humans MeSH
• Malabsorption Syndromes * genetics   MeSH
• Intellectual Disability * genetics   MeSH
• Pancreatic Diseases * genetics   MeSH
• Nose * abnormalities   abnormalities   MeSH
• Hearing Loss, Sensorineural * genetics   MeSH
• Growth Disorders * genetics   MeSH
• Pedigree MeSH
• Exome Sequencing MeSH
• Ubiquitin-Protein Ligases * genetics   MeSH
• Gallstones * genetics   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH

Gallstones are a prevalent biliary system disorder that is particularly common in women. They can lead to various complications, such as biliary colic, infection, cholecystitis, and even gallbladder cancer. However, the etiology of gallstones remains incompletely understood. The significant role of bacteria in gallstone formation has been demonstrated in recent studies. Certain bacteria not only influence bile composition and the gallbladder environment but also actively participate in stone formation by producing enzymes such as β-glucuronidase and mucus. Therefore, this review aimed to analyze the mechanisms involving the types and quantities of bacteria involved in gallstone formation, providing valuable references for understanding the etiology and clinical treatment of gallstones.

• MeSH
• Bacteria genetics   MeSH
• Humans MeSH
• Bile microbiology   MeSH
• Gallstones * microbiology   MeSH
• Check Tag
• Humans MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Review MeSH

Many environmental risk factors for hepatobiliary cancers are known but whether they are associated with specific cancer types is unclear. We present here a novel approach of assessing standardized incidence ratios (SIRs) of previously diagnosed comorbidities for hepatocellular carcinoma (HCC), gallbladder cancer (GBC), cholangiocarcinoma (CCA) and ampullary cancer. The 13 comorbidities included alcohol and nonalcohol related liver disease, chronic obstructive pulmonary disease, gallstone disease, viral and other kinds of hepatitis, infection of bile ducts, hepatic and other autoimmune diseases, obesity and diabetes. Patients were identified from the Swedish Inpatient Register from 1987 to 2018, and their cancers were followed from 1997 onwards. SIRs for HCC were 80 to 100 in men and women diagnosed with hepatitis C virus and they were also >10 in patients diagnosed with hepatitis B virus, other kind of hepatitis, hepatic autoimmune disease and nonalcohol related liver disease. Many of these risks, as well as alcohol related liver disease, were either specific to HCC or were shared with intrahepatic CCA. For GBC, CCA and ampullary cancer infection of bile ducts was the main risk factor. Gallstone disease, nonhepatic autoimmune diseases and diabetes were associated with all hepatobiliary cancers. The limitations of the study include inability to cover some rare risk factors and limited follow-up time. Many of the considered comorbidities are characterized by chronic inflammation and/or overt immune disturbance in autoimmune diseases. The results suggest that local chronic inflammation and a related immune disturbance is the carcinogenic trigger for all these cancers.

• MeSH
• Ampulla of Vater * pathology   MeSH
• Autoimmune Diseases * MeSH
• Cholangiocarcinoma * epidemiology   etiology   diagnosis   MeSH
• Cholelithiasis * complications   pathology   MeSH
• Carcinoma, Hepatocellular * pathology   MeSH
• Humans MeSH
• Common Bile Duct Neoplasms * complications   pathology   MeSH
• Liver Neoplasms * epidemiology   etiology   pathology   MeSH
• Gallbladder Neoplasms * etiology   complications   MeSH
• Bile Duct Neoplasms * epidemiology   etiology   pathology   MeSH
• Inflammation pathology   MeSH
• Bile Ducts, Intrahepatic pathology   MeSH
• Check Tag
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

• MeSH
• Cholecystolithiasis complications   MeSH
• Humans MeSH
• Gallbladder Neoplasms surgery   diagnosis   MeSH
• Bile Duct Neoplasms MeSH
• Bile Duct Diseases diagnosis   therapy   MeSH
• Bile Ducts * anatomy & histology   surgery   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH

Cíl: Předkládáme neobvyklou kazuistiku gravidní pacientky s opakovanými atakami akutní pankreatitidy na podkladě cholecystolitiázy. Závěr: Akutní pankreatitida v těhotenství je vzácné onemocnění. Na rozdíl od netěhotné populace je pro ni charakteristická vysoká frekvence recidiv. Onemocnění akutní pankreatitidou v těhotenství má negativní vliv jak na matku, tak i na plod. Léčba je modifikována v závislosti na trimestru gravidity.

Objective: We present an unusual case report of a pregnant patient with recurrent attacks of acute pancreatitis due to cholecystolithiasis. Conclusion: Acute pancreatitis in pregnancy is a rare disease. Unlike the non-pregnant population, it is characterized by a high recurrence rate. Acute pancreatitis during pregnancy has a negative effect on both the mother and the fetus. The treatment is modified depending on the trimester of pregnancy.

• MeSH
• Cholecystolithiasis diagnosis   MeSH
• Adult MeSH
• Pregnancy Complications * MeSH
• Humans MeSH
• Pancreatitis * pathology   therapy   MeSH
• Pregnancy MeSH
• Pregnancy Trimester, Third MeSH
• Treatment Outcome MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Case Reports MeSH

Gallstone ileus is an uncommon complication of cholelithiasis and occurs when a gallstone migrates through a cholecystoenteric fistula and impacts within the gastrointestinal tract. Surgical intervention remains the treatment of choice, which consists of a full-thickness incision of the visceral wall and removal of the impacted gallstone. In this paper we present the treatment approach of 6 cases of gallstone ileus in octogenarians. In our cohort, intestinal obstruction was resolved through an enterotomy or gastrotomy and lithotomy/stone extraction in every patient. No cholecystectomies were undertaken. Despite the fact that gallstone ileus is diagnosed in small percent of patients suffering from gallstone disease, it accounts for a large proportion of intestine obstruction in patients older than 65 years old. Since accurate diagnosis and timely intervention are vital, providers should be familiar with the diagnostic approach and the treatment of this clinical entity.

• MeSH
• Cholecystectomy adverse effects   MeSH
• Ileus * diagnostic imaging   etiology   surgery   MeSH
• Humans MeSH
• Octogenarians MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Intestinal Obstruction * complications   surgery   MeSH
• Gallstones * complications   diagnostic imaging   surgery   MeSH
• Check Tag
• Humans MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Publication type
• Journal Article MeSH

• Keywords
• porcelánový žlučník,
• MeSH
• Surgical Procedures, Operative MeSH
• Cholecystitis diagnosis   therapy   MeSH
• Ileus diagnosis   therapy   MeSH
• Colic diagnosis   therapy   MeSH
• Gallbladder Diseases surgery   diagnostic imaging   diagnosis   diet therapy   etiology   therapy   MeSH
• Aged MeSH
• Gallstones diagnostic imaging   diagnosis   therapy   MeSH
• Check Tag
• Aged MeSH
• Publication type
• Case Reports MeSH

Biliární ileus je vzácná komplikace žlučových kamenů a je unikátní příčinou střevní obstrukce. Spočívá ve vzniku cholecystoenterické píštěle, přes kterou se žlučový kámen dostane do zažívacího traktu. Spontánní úprava střevní obstrukce při biliárním ileu je extrémně vzácná. Popisujeme případ 71leté pacientky vyšetřené pro čtyřměsíční bolest v pravém hypochondriu. Udávala třídenní anamnézu úplné zácpy a abdominální distenze před dvěma měsíci, která se spontánně upravila. CT vyšetření popsalo pneumobilii. Při explorativní laparoskopii byla zjištěná cholecystoduodenální píštěl, která se ošetřila přerušením, ústí v první části duodena se uzavřelo a byla provedena úspěšná cholecystektomie. Přítomnost pneumobilie u pacienta se žlučovými kameny by mělo vést k podezření na bilioenterickou píštěl. Ve vzácných případech se střevní obstrukce při biliárním ileu vyřeší spontánně. Primární laparoskopické ošetření cholecystoduodenální píštěle je bezpečné a proveditelné v přítomnosti zkušeného laparoskopického chirurga.

Gallstone ileus is a rare complication of gallstones and is a comparatively unique cause of intestinal obstruction. It involves the development of a cholecysto-enteric fistula through which a gallstone can pass into the gastrointestinal tract. Spontaneous resolution of intestinal obstruction in gallstone ileus is extremely rare. We report a 71-year-old patient who presented with right hypochondrial pain for four months. She had a three-day history of absolute constipation and abdominal distention two months before presentation that resolved spontaneously. Computed tomography revealed pneumobilia. Laparoscopic exploration showed a cholecysto-duodenal fistula that was divided, the opening in the first part duodenum was closed and cholecystectomy was completed successfully. The presence of pneumobilia in a patient with gallstones should raise the suspicion of bilio-enteric fistula. The obstruction component of gallstone ileus can resolve spontaneously in rare occasions. Single stage laparoscopic management of cholecysto-duodenal fistula is safe and feasible in the presence of an experienced laparoscopic surgeon.

• MeSH
• Ileus * surgery   diagnostic imaging   complications   MeSH
• Laparoscopy MeSH
• Humans MeSH
• Aged MeSH
• Intestinal Obstruction MeSH
• Intestinal Fistula diagnostic imaging   complications   MeSH
• Treatment Outcome MeSH
• Gallstones * surgery   diagnostic imaging   complications   MeSH
• Check Tag
• Humans MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Case Reports MeSH