University of Zagreb Medical School Repository
University of Zagreb Medical School RepositoryNot a member yet
2851 research outputs found
Sort by
Association of MAPT haplotype-tagging polymorphisms with cerebrospinal fluid biomarkers of Alzheimer's disease: a preliminary study in a Croatian cohort
Get PDFINTRODUCTION:
Alzheimer's disease (AD) is the world leading cause of dementia. Early detection of AD is essential for faster and more efficacious usage of therapeutics and preventive measures. Even though it is well known that one ε4 allele of apolipoprotein E gene increases the risk for sporadic AD five times, and that two ε4 alleles increase the risk 20 times, reliable genetic markers for AD are not yet available. Previous studies have shown that microtubule-associated protein tau (MAPT) gene polymorphisms could be associated with increased risk for AD. -----
METHODS:
The present study included 113 AD patients and 53 patients with mild cognitive impairment (MCI), as well as nine healthy controls (HC) and 53 patients with other primary causes of dementia. The study assessed whether six MAPT haplotype-tagging polymorphisms (rs1467967, rs242557, rs3785883, rs2471738, del-In9, and rs7521) and MAPT haplotypes are associated with AD pathology, as measured by cerebrospinal fluid (CSF) AD biomarkers amyloid β1-42 (Aβ1-42 ), total tau (t-tau), tau phosphorylated at epitopes 181 (p-tau181 ), 199 (p-tau199 ), and 231 (p-tau231 ), and visinin-like protein 1 (VILIP-1). -----
RESULTS:
Significant increases in t-tau and p-tau CSF levels were found in patients with AG and AA MAPT rs1467967 genotype, CC MAPT rs2471738 genotype and in patients with H1H2 or H2H2 MAPT haplotype. -----
CONCLUSIONS:
These results indicate that MAPT haplotype-tagging polymorphisms and MAPT haplotypes should be further tested as potential genetic biomarkers of AD
Successful treatment of genotype 3 hepatitis C infection in a noncirrhotic HIV infected patient on chronic dialysis with the combination of sofosbuvir and velpatasvir
Get PDFRATIONALE:
Data on anti-HCV therapy in patients on dialysis is still evolving. Sofosbuvir is mainly eliminated through the renal route and there is controversy about its use in these patients. -----
PATIENT CONCERNS:
We describe a 53-year-old male patient with HCV genotype 3 and human immunodeficiency type 1 (HIV) infection on chronic dialysis. HIV infection was diagnosed in 1987 and since July 2007 the patient was compliant with his antiretroviral therapy (ART) and had an undetectable plasma HIV viral load on all follow-up measurements. The patient was known to have HCV infection since 1997 but has never been treated for chronic hepatitis C. Because of progressive renal impairment dialysis started in 2005. -----
DIAGNOSIS:
Before anti-HCV treatment commenced the patient liver transient elastography (FibroScan) indicated F3 fibrosis (stiffness, 11.6 kPa) and his HCV RNA viral load was 320,798 IU/mL (Abbott RealTime HCV assay). -----
INTERVENTION:
Fixed dose combination of sofosbuvir/velpatasvir (400 mg/100 mg) for 11 weeks. -----
OUTCOMES:
Twelve weeks after treatment cessation HCV RNA was undetectable, hence the patient achieved a sustained virologic response. The drugs were well tolerated and the patient did not report any side effects. -----
LESSONS:
Sofosbuvir/velpatasvir may be an option for HCV genotype 3 infection in patients coinfected with HIV on long-term dialysis
Safety of outpatient kidney biopsies
Get PDFBACKGROUND:
Kidney biopsy is frequently performed in our centre as an outpatient procedure. The aim of this study was to evaluate the safety of biopsy in the outpatient setting. ----- METHODS:
We analysed kidney biopsies performed from March 2013 to February 2017. Seven hundred twenty-five biopsies performed in the outpatient setting were identified: There were 592 transplant and 133 native biopsies including 3 solitary kidney biopsies. All were performed under ultrasound guidance using a 16G or 18G needle, with freehand technique. In all patients with estimated glomerular filtration rate (eGFR) 10%), without need for transfusion or intervention and macrohaematuria. ----- RESULTS:
There were 506 (69.8%) male patients. Average age was 50.3 ± 12.7 years. Indications for native kidney biopsy included nephrotic syndrome (39.8%), nephritic syndrome (42.9%), follow-up biopsy (15.8%), and other (1.5%). There were no major complications. A decline in Hb was observed in 72% of patients. Average Hb decline was 4.2 ± 6.3 g/L. In 10.1% patients there was >10% reduction in Hb level, with no evident bleeding, including by ultrasonography. In 2.5% of patients, macrohaematuria was present. In a multivariate analysis, male gender, lower eGFR, higher pre-biopsy Hb and native kidney biopsy were predictive for Hb decline. No therapeutic interventions were required. ----- CONCLUSION:
We found that kidney biopsy performed in an outpatient setting in select patients is only rarely associated with adverse events and is a safe procedure
Etomidate in neuroanesthesia for aneurysmal clipping in child with confirmed allergies to general anesthetics
Get PDFBACKGROUND:
Etomidate may be given in continuous infusion for maintenance of general anesthesia, although that practice is rarely seen due to beliefs that it has possibility of interfering with cortisol synthesis. However, etomidate is sometimes preferable choice as it has least influence on hemodynamics and rarely causes allergic reactions. ----- CASE DESCRIPTION:
We describe a case of 13-year-old boy with aneurysm of left middle cerebral artery, planned for aneurysmal clipping, and previously treated for ruptured aneurysm of right middle cerebral artery. As he was tested and proved allergic to most of the anesthetic drugs, and stable hemodynamic conditions were of most importance during planned neurosurgery, general anesthesia was maintained with etomidate infusion. He was prepared with metilprednisolon, antihistaminic, and ranitidine before the surgery. Cortisol and adrenocorticotropic hormone levels were measured on three consecutive postoperative days. Only cortisol value, in the morning the day after the surgery, was below reference range, with the values back to normal until that evening. He was dismissed from the intensive care unit with Glasgow Coma Score 15. ----- CONCLUSION:
Etomidate may be a choice for neuroanesthesia in specific group of people. We have good experience with our algorithm for continuous infusion of etomidate, with serum cortisol values in the reference range, if corticosteroids were not given before the surgery. Administration of metilprednisolon may diminish influence of perioperative stress on cortisol synthesis inhibition
Comparison of hepatoprotective effect from ischemia-reperfusion injury of remote ischemic preconditioning of the liver vs local ischemic preconditioning of the liver during human liver resections
Get PDFAIM:
To compare and evaluate the hepatoprotective effect of remote ischemic preconditioning (RIPC) with local ischemic preconditioning (LIPC) of the liver during human liver resections. ----- METHODS:
A prospective, single-centre, randomised control trial was conducted in the Clinical Hospital "***" from April 2017 to January 2018. A total of 60 patients, who underwent liver resection due to colorectal cancer liver metastasis, were randomised to one of three study arms: 1) a RIPC group, 2) an LIPC group and 3) a control group (CG) in which no ischemic preconditioning was done before liver resection. The hepatoprotective effect was evaluated by comparing serum transaminase levels, bilirubin levels, albumin, and protein levels, coagulograms and through pathohistological analysis. The trial was registered on ClinicalTrials.gov (NCT****). ----- RESULTS:
Significant differences were found in serum levels of liver transaminases and bilirubin levels between the groups, the highest level in the CG and the lowest level in the LIPC group. Levels of cholinesterase were also significantly higher in the LIPC group. Pathohistological findings graded by the Rodriguez score showed favourable changes in the LIPC and RIPC groups versus the CG. ----- CONCLUSION:
Strong evidence supports the hepatoprotective effect of RIPC and LIPC preconditioning from an ischemia-reperfusion injury of the liver. Better synthetic liver function preservation in these two groups supports this conclusion
Rare abdominal wall malformation: case report of umbilical cord hernia
Get PDFThe umbilical cord hernia is the rarest form of abdominal wall malformations, anatomically completely different from gastroschisis and omphalocele. It occurs due to the permanent physiological evisceration of abdominal organs into umbilical celom and persistence of a patent umbilical ring. The umbilical cord hernia is often mistaken for omphalocele and called "small omphalocele". Here we present a case of a female newborn with umbilical cord hernia treated in our Hospital. After preoperative examinations surgery was done on the second day of life. The abdominal wall was closed without tension. The aim of this article is to present the importance of the proper diagnose of these three entities and to stimulate academic community for the answer, is this umbilical cord hernia or small omphalocele
Latent Toxoplasma gondii infection is associated with decreased serum triglyceride to high-density lipoprotein cholesterol ratio in male patients with schizophrenia
Get PDFBACKGROUND:
Previous studies suggested a complex association between Toxoplasma gondii (TG) infection and host lipid metabolism. Both TG infection and metabolic disturbances are very common in patients with schizophrenia, but this relationship is not clear. ----- METHODS:
In this cross-sectional study, we evaluated the association between TG seropositivity, serum lipid levels, body mass index (BMI) and metabolic syndrome (MetS) in 210 male inpatients with schizophrenia. ----- RESULTS:
In our sample of schizophrenia patients, with the mean age of 43.90 ± 12.70 years, the rate of TG seropositivity was 52.38% and the prevalence of MetS was 17%. Patients with the TG antibodies had lower serum triglyceride levels and body weight compared to TG seronegative patients, despite having more frequently received antipsychotics (clozapine, olanzapine risperidone and quetiapine), which are well known to induce weight gain and metabolic abnormalities. However, the only significant change in metabolic parameters, observed in TG seropositive patients with schizophrenia, was decreased serum triglyceride to high-density lipoprotein cholesterol (HDL-C) ratio. No associations were observed between TG seropositivity and serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and glucose levels, waist circumference, BMI and the rate of MetS. ----- CONCLUSION:
This is the first report of the association between TG infection and decreased serum triglyceride to HDL-C ratio in a sample of carefully selected men with chronic schizophrenia
Overnight video-polysomnographic studies in children with Intractable epileptic encephalopathies
Get PDFBACKGROUND The aim of this study was to assess sleep architecture and respiration during sleep in children with intractable epileptic encephalopathies using overnight video-polysomnography (V-PSG). ----- MATERIAL AND METHODS Between 2015 to 2017 overnight V-PSG recordings were made for 31 children (22 boys and 9 girls) with intractable epileptic encephalopathy with a mean age of 6.78±3.61 years and a mean body mass index (BMI) of 15.83±3.16 kg/m3. Thirty-one healthy children were matched for sex, age, and BMI as the control group. The phases of sleep studied included rapid eye movement (REM) sleep, and non-REM (NREM) phases NREM 1, NREM 2, and NREM 3. Respiratory function during sleep was evaluated. ----- RESULTS Children with epileptic encephalopathies receiving antiepileptic treatment had significantly decreased total sleep time (TST) (p=0.038), significantly increased percentage of NREM1 (p=0.033), and a significantly lower percentage of total REM (p<0.0001), compared with the control group. All children 31/31 (100%) with epileptic encephalopathies had interictal epileptiform discharges, and 4/31 (12.9%) had ictal events. The number of respiratory events did not differ significantly between the two groups (p=0.118), but children in the epileptic encephalopathy group had a significantly shorter average duration (p=0.008) and longest duration (p=0.048) of respiratory events. Average (p=0.006) and least (p=0.0004) oxygen saturation (SatO2) were significantly lower in children with epileptic encephalopathies compared with the control group. ----- CONCLUSIONS Children with epileptic encephalopathies had altered sleep architecture and marked oxygen desaturation, which supports the need for referral of children with epileptic encephalopathy for overnight sleep evaluation
Acute kidney failure as a single complication of varicella virus Infection in an adult patient
Get PDFBackground:
Varicella zoster virus (VZV) is distributed worldwide and is highly contagious. In adults and immunosuppressed patients of any age, the clinical course is much more severe. The most severe complications are pneumonia (the main cause of lethal outcomes in this infection), encephalitis, and very rarely Reye syndrome and hepatitis. -----
Case Presentation:
We present a 59-year-old man who came to the emergency department due to varicella and diarrhea. During initial evaluation acute kidney failure (AKF) was diagnosed, and the patient was admitted to the intensive care unit. Continuous renal replacement therapy was applied, and the patient was treated with acyclovir in adjusted doses; renal biopsy revealed acute tubular necrosis. Complete renal function recovery was established after 12 days. -----
Conclusion:
VZV infection occurs in a range of clinical scenarios, sometimes presenting only with mild symptoms, but in some other setting it can result in severe AKF even in healthy kidneys. Acute VZV infection can lead to isolated, clinically significant kidney failure. The administration of continuous renal replacement therapy and adjusted doses of acyclovir has a favorable effect on the course of the infection, with complete recovery of kidney function