Biomedical subjects

Mikołaj Teisseyre

Publications and source records attributed to Mikołaj Teisseyre.

5 recordsLinked to original sources

PubMed2006

Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis.

OBJECTIVES: Defects of PRSS1, SPINK1, CFTR and AAT are considered causative or predisposing to pancreatitis. The aim of this study was to evaluate the impact of these defects into molecular pathology of chronic pancreatitis (CP) and acute recurrent pancreatitis (ARP). METHODS: Ninety-two children with CP or ARP, 55 family members and 50 controls were investigated. The subjects were screened for PRSS1 mutations: R122H, R122C, A16V, N29I; SPINK1 N34S variant; panel of 14 CFTR defects: INNOLiPA CFTR12, CFTRdele2,3 and IVS8-T variant or panel of 3 CFTR defects-F508del, CFTRdele2,3 and IVS8-T; AAT mutations: E264V, E342K. RESULTS: We identified 1 mutated allele in at least 1 of 4 genes in 31 of 92 patients and 12 of 50 controls (P = 0.157). Mutations in SPINK1 and PRSS1 were most frequent. PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094), whereas N34S SPINK1 mutation was present with comparable frequency in CP and ARP patients (7.7% vs 10.0%, P = 0.768). The frequency of mutations in CFTR alleles was similar to controls (4.9% vs 5%, P = 0.587). Overall frequency of AAT mutations was lower than in the controls. Family studies showed that defects in the examined genes did not always segregate with disease. CONCLUSIONS: PRSS1 defects seem to be causative for pancreatitis, whereas defects in SPINK1 are suggested to be associated with the disease. No association between CFTR mutations and pancreatitis was observed. The importance of AAT variants remains speculative.

Acute Disease↗

PubMed2006

[Amanita phalloides poisoning as an indication for liver transplantation in three family members].

Amanita phalloides poisoning is one of the most dramatic medical invents. The course of the illness may vary from mild to the lethal, with signs of fulminant liver insufficiency with coma and multiorgan failure. When hepatic encephalopathy (III/IV degrees) occurs the prognosis is very poor. In definite cases the liver transplantation is necessary. The authors present severe Amanita phalloides poisoning in three family members, who due to fulminant hepatic failure underwent liver transplantation. The two of them (son and father) transplanted accordingly in fifth and seventh day after poisoning, survived. Mother, in whom transplantation started in ninth day after poisoning, died intraoperativel with signs of massive hemorrhage, and cardiac arrest.

Adolescent↗

PubMed2005

[Complications in a patient with liver cirrhosis and HCV coinfection during treatment with peginterferon and ribavirin].

Authors present a case of 15-years old girl with liver cirrhosis due to biliary atresia with HCV coinfection with portal hypertension after several episodes of variceal bleeding treated primarily with sclerotherapy and later with transjugular intrahepatic porto-systemic stent shunt. In a patient during the combined peginterferon alfa-2b and ribavirin treatment a decompensation of liver occurred with necessity for liver transplantation.

Adolescent↗

PubMed2005

Longitudinal study of renal function in pediatric liver transplant recipients.

OBJECTIVES: Study was performed to evaluate prospectively long-term renal function in pediatric liver transplant recipients. METHODS: In 50 children aged 1-18 years, renal function tests (sCr, GFR, ERPF, Cr clearance, renal Doppler ultrasound, ABPM) have been performed before and several times during 36 months follow-up after liver transplantation. RESULTS: Signifficant reduction of renal filtration function was found in studied children (increase of sCr, decrease of GFR, ERPF, Cr clearance) within 12 months after transplantation, which did not progress further in most children after this time. None of patients progressed to stage 4 or 5 renal failure according to CKD. Schwartz formula was not found reliable in assessing renal function in children after liver transplantation. There was no difference in renal function according to cyclosporine or tacrolimus treatment, however arterial hypertension was more common in cyclosporine treated group. CONCLUSIONS: Although renal damage may be a problem for an individual chuild after liver transplantation, majority of children have stable renal function 36 months after Tx. DTPA GFR should be performed yearly in all children until adulthood not to overlook progression of renal injury.

Adolescent↗

PubMedDate not supplied

[Focal nodular hyperplasia - own experiences].

INTRODUCTION: focal nodular hyperplasia (FNH) is a benign tumour of the liver, often discovered incidentally. It occurs mainly in women between 25-44 years old. Though it is rarefy reported in children the evidence has been growing in the recent years. THE AIM: of our work was to show our experience of focal nodular hyperplasia in pediatric cases. MATERIAL AND METHODS: 10 children, aged 6-17 years, were hospitalized in the Children's Memorial Health Institute between 2000 and 2005, with provisional diagnosis of focal nodular hyperplasia. In all children radiological examination was performed. In some cases laparotomy and operative liver biopsy was carried out. RESULTS: only in 3 children diagnosis of FNH was made from radiological examination. 6 children needed laparotomy and operative liver biopsy. Although operative resection of FNH lesions was carried out in some patients, the authors observed recurrence of hepatic lesions. CONCLUSIONS: our experiences confirm that nowadays the conservative approach should to be standard procedure in children with FNH. Only in doubtful cases laparotomy is recommended.

Adolescent↗