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F Lammert

Publications and source records attributed to F Lammert.

At least 19 recordsLinked to original sources
PubMed2006

Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.

BACKGROUND: Intrahepatic cholestasis of pregnancy (ICP) is characterised by troublesome maternal pruritus, raised serum bile acid levels and increased fetal risk. Mutations of the ABCB4 gene encoding the hepatobiliary phospholipid transporter have been identified in a small proportion of patients with cholestasis of pregnancy. In a recent prospective study on 693 patients with cholestasis of pregnancy, a cut-off level for serum bile acid (> or =40 micromol/l) was determined for increased risk of fetal complications. OBJECTIVES: To investigate whether common combinations of polymorphic alleles (haplotypes) of the genes encoding the hepatobiliary ATP-binding cassette (ABC) transporters for phospholipids (ABCB4) and bile acids (ABCB11) were associated with this severe form of cholestasis of pregnancy. METHODS: For genetic analysis, 52 women with bile acid levels > or =40 micromol/l (called cases) and 52 unaffected women (called controls) matched for age, parity and geographical residence were studied. Gene variants tagging common ABCB4 and ABCB11 haplotypes were genotyped and haplotype distributions were compared between cases and controls by permutation testing. RESULTS: In contrast with ABCB11 haplotypes, ABCB4 haplotypes differed between the two groups (p = 0.019), showing that the severe form of cholestasis of pregnancy is associated with the ABCB4 gene variants. Specifically, haplotype ABCB4_5 occurred more often in cases, whereas haplotypes ABCB4_3 and ABCB4_7 were more common in controls. These associations were reflected by different frequencies of at-risk alleles of the two tagging polymorphisms (c.711A: odds ratio (OR) 2.27, p = 0.04; deletion intron 5: OR 14.68, p = 0.012). CONCLUSION: Variants of ABCB4 represent genetic risk factors for the severe form of ICP in Sweden.

ATP Binding Cassette Transporter, Subfamily B↗
PubMed2006

[Recurring, severe upper abdominal pain in a 45 year old patient].

A 45-year-old patient presented with a history of recurrent abdominal pain of unknown origin. The CT scan of the abdomen demonstrated a thickened mesenteric root and a segmental ileus of the jejunum. Laparotomy revealed a neuroendocrine tumour of the small bowel. Such tumours are rare causes of recurrent abdominal pain. Especially when the CT scan of the abdomen reveals mesenteric abnormalities (desmoplastic reaction) and/or a segmental ileus, a neuroendocrine tumour of the small bowel should be considered. The therapy of choice is resection of the tumour followed by systemic therapy including somatostain analogues and chemotherapy in the case of a hormone secreting tumour or metastases.

Abdominal Pain↗
PubMed2006

[Severe refractory pulmonary hypertension after liver transplantation for hepatitis C liver cirrhosis].

BACKGROUND: We report the case of a 43-year-old male with liver cirrhosis based on a chronically active hepatitis C. CASE REPORT: Before liver transplantation right-ventricular pressure values of 36 mmHg (+ central venous pressure) were measured whereas, after transplantation, he developed severe pulmonary hypertension with pressure values up to 90 mmHg. These elevated pressure values correlated inversely with graft function. Given the diagnosis of portopulmonary hypertension, we initiated treatment with intravenous epoprostenol and inhalative iloprost but both treatments were not tolerated because of systemic side effects. A combined heart-lung transplantation was considered but the patient died from insufficient cardiac function. CONCLUSIONS: The case report discusses the present diagnostic and therapeutic state of the art in portopulmonary hypertension and reveals basic problems of the present screening strategy.

Adult↗
PubMed2006

Portal hypertension and nodular regenerative hyperplasia in a patient with celiac disease.

Nodular regenerative hyperplasia (NRH) is an uncommon cause of portal hypertension. The disease is often associated with rheumatological or lymphoproliferative disorders. We report the case of a 19-year old patient with celiac disease and portal hypertension. Biopsy of the liver revealed NRH as the underlying cause. There were no signs of autoimmune diseases or defects in the coagulation system that might cause NRH. Celiac disease is often associated with liver abnormalities, but the association with NRH has rarely been described. We discuss the possible relationship of celiac disease and NRH.

Adult↗
PubMed2005

Eosinophilic gastroenteritis with severe protein-losing enteropathy: successful treatment with budesonide.

We report the clinical, laboratory, endoscopic and histopathological findings in a 40-year-old woman with watery diarrhoea and hypoproteinaemia. Elevated alpha(1)-antitrypsin clearance confirmed massive protein-losing enteropathy. Gastroscopic and colonoscopic biopsies showed abundant infiltration of the small bowel wall with eosinophils in proximal duodenum and terminal ileum, respectively. These findings established the diagnosis of eosinophilic gastroenteritis. Both the inflammatory alterations and the severe intestinal protein loss were successfully treated with budesonide, a topically active corticosteroid preparation with controlled small bowel release. The case report illustrates that remission of protein-losing enteropathy secondary to eosinophilic gastroenteritis can be achieved with budesonide, thus supporting its use for this uncommon disease characterised by inflammatory intestinal lesions.

Adult↗
PubMed2005

[Extrahepatic manifestations of chronic liver diseases].

Chronic liver diseases are commonly associated with extrahepatic disease manifestations. Liver cirrhosis, the end stage of chronic liver diseases of different etiologies, can result in severe neurological, renal and pulmonary complications. Hepatic encephalopathy plays an important socio-economic role, since it affects daily functioning and fitness to drive. During the clinical course of chronic viral hepatitis, many patients develop extrahepatic disease manifestations, which lead to significant morbidity and mortality. In particular, mixed cryoglobulinemia, membranoproliferative glomerulonephritis and polyarteriitis nodosa are strongly associated with chronic viral hepatitis. Most extrahepatic manifestations are due to immunological and lymphoproliferative pathomechanisms. Knowledge of extrahepatic disease manifestations is important for adequate medical care and risk assessment of patients with chronic liver diseases by insurance companies.

Chronic Disease↗
PubMed2005

Cutaneous mucinosis and skin necrosis complicates interferon alfacon-1 (consensus interferon) treatment of chronic hepatitis C.

A 59-year-old Caucasian suffering from chronic hepatitis C started daily subcutaneous self-injections of interferon alfacon-1 (consensus interferon) according to the protocol of a randomised multicentre study. At week 10, he developed painful erythematous lesions at two injection sites. Consensus interferon dosage was reduced, and eventually, the lesions healed with small areas of scarring due to central necrosis. At week 51, again large areas of erythematous thickened skin arose at two other injection sites followed by substantial ulceration and central necrosis. Skin biopsy revealed excessive dermal mucin deposition so that cutaneous mucinosis was diagnosed. After 3-6 months, the lesions healed with central scarring. Due to a persistently negative HCV-PCR from serum (from week 12 onwards), consensus interferon treatment was not stopped but continued until week 60 according to the study protocol. - Cutaneous mucinosis has not been previously reported to complicate treatment with consensus interferon in patients with chronic hepatitis C and should therefore be added to the list of dermatological side-effects associated with interferon alfacon-1 therapy.

Antiviral Agents↗
PubMed2004

Impedance characteristics of esophageal motor function in achalasia.

Detailed data on patterns of esophageal bolus transport in patients with achalasia are still lacking. To study these we applied the novel technique of multichannel intraluminal impedance measurements. Ten patients with achalasia were studied using a 16 channel system. Liquid and semisolid boluses of 10 mL were applied with the patients in a supine position. Patterns of bolus transport were determined and analyzed as compared to results obtained from 20 healthy subjects. The healthy subjects featured a unique typical primary peristalsis pattern independent of bolus viscosity. In contrast, achalasia patients demonstrated different impedance characteristics, including: (i) significantly lower baseline esophageal impedance during the resting state as compared with healthy volunteers (999 omega +/- 108 versus 2749 omega +/- 113); (ii) failed bolus transport through the esophagus in all cases; (iii) impedance evidence of luminal content regurgitation in 35% of the swallows (iv) impedance evidence of pathological air movement within the proximal esophagus during deglutition in 38% of the swallows, so called air trapping. Thus, impedance characteristics of achalasia have been defined and can be attributed to known symptoms of achalasia. They can be used as basic findings for further classification of pathological bolus transports in other esophageal motility disorders.

Adult↗
PubMed2004

Oesophageal clearance of acid and bile: a combined radionuclide, pH, and Bilitec study.

BACKGROUND: Studies combining pH and Bilitec monitoring found a high prevalence of both acid and duodeno-gastro-oesophageal reflux in severe reflux disease. Clearance of refluxed material is a major defence mechanism against reflux. Several studies have been devoted to oesophageal acid clearance but oesophageal clearance of refluxed duodenal contents (DC) has rarely been addressed. AIM: To compare oesophageal acid and DC clearance. METHODS: Ten healthy volunteers (five women, mean age 23 (1) years) were studied. Firstly, a balloon tip catheter, positioned in the duodenum under fluoroscopy, was used to aspirate DC after stimulation by a high caloric liquid meal (200 ml, 300 kcal). During the second session, pH and Bilitec probes were positioned 5 cm above the lower oesophageal sphincter and a small infusion catheter was introduced into the proximal oesophagus. The subject was placed supine under a gamma camera. One of two different solutions (DC mixed with 0.2 mCi Tc99m pertechnetate or citric acid (pH 2) mixed with 0.2 mCi Tc99m pertechnetate) was infused into the proximal oesophagus and the subject was instructed to swallow at 20 second intervals. Clearance was assessed using scintigraphy (dynamic acquisition, one frame per second in the anterior view; calculation of time to clear peak counts to background level), pH (time to pH<4) or Bilitec (time absorbance >0.14) monitoring, with or without continuous saliva aspiration. Each condition was studied twice in a randomised design; measurement time was four minutes, interrupted by water flushing, with a two minute rest period. Results are given as mean (SEM) and were compared by Student's t test and Pearson correlation. RESULTS: Scintigraphic evaluation showed a volume clearance time of 29 (3) seconds for acid and 28 (9) seconds for DC (NS). Saliva aspiration had no significant influence on volume clearance of acid or DC (28 (4) and 30 (13) seconds, respectively; NS). pH monitoring showed an acid clearance time of 217 (15) seconds, which was significantly prolonged to 324 (30) seconds during saliva aspiration (p<0.05). Bilitec monitoring showed a DC clearance time of 131 (27) seconds, which was not significantly prolonged by saliva aspiration (176 (36) seconds; p = 0.08). DC clearance was faster than acid clearance, either without or with saliva aspiration (p<0.055 and p<0.05, respectively). CONCLUSIONS: Under experimental conditions, liquid acid and DC solutions have comparable volume clearances. Chemical clearance occurs slightly faster for DC than for acid, and saliva plays a major role in the clearance of acid only.

Adult↗
PubMed2003

Mouse models for genetic dissection of polygenic gastrointestinal diseases.

Many diseases with a major public health impact are the result of complex interactions between environmental factors and multiple genes. In the past decade, methods for genome analysis, in particular quantitative trait locus (QTL) analysis in animal models, were developed to identify and localize the genes responsible for multifactorial (polygenic) diseases; QTL analysis is based on experimental crosses between inbred strains with high and low genetic susceptibility. Recently the genes underlying several QTLs could be cloned successfully. Here we describe the impact of these genomic approaches in mice on our understanding of the multifactorial genetics of three gastrointestinal diseases related to metabolism (cholesterol cholelithiasis), development (gastroschisis), and colorectal cancer. The examples demonstrate how mouse models continue to be an invaluable tool in unravelling complex pathomechanisms and unlocking our understanding of human diseases.

Animals↗
PubMed2003

Jaundice.

Explore the source record for details and available documents.

Bilirubin↗
PubMed2002

[Molecular genetics of cholesterol cholelithiasis: identification of human and murine gallstone genes].

Cholesterol cholelithiasis is one of the most common gastroenterological diseases in Western countries. It is a polygenic disease resulting from disturbed biliary cholesterol homeostasis. Association studies identified six human gallstone candidate genes. Polymorphisms in the genes encoding the apolipoproteins B and E, phospholipid flippase ( ABCB4), cholesterol ester transfer protein ( CETP), cholesterol-7alpha-hydroxylase ( CYP7A1) and ileal bile acid transporter ( SLC10A2) are correlated with gallstone prevalence. Quantitative Trait Locus (QTL) analysis localises additional unknown gallstone genes in inbred mice. Based on the natural variation of cholesterol gallstone susceptibility among different inbred strains, 5 lithogenic ( Lith) loci have been identified. Hepatobiliary transporters (e. g. bile salt export pump Abcb11) and key proteins of the lipoprotein metabolism (e. g. hepatic lipase Lipc) could be established as creedal candidate genes for Lith loci. The rapid progress of mouse and human genome projects provides the basis for the analysis of orthologous human LITH genes in gallstone patients, which might offer new prospects for individual risk assessment and molecular targets for stone prevention.

Animals↗