Breastfeeding in PKU and Other Amino Acid Metabolism Disorders-A Single Centre Experience.

In addition to the numerous immunological and nutritional benefits that breast milk offers to infants, its proportion in the diet must be limited or even excluded in the case of inborn errors of amino acid metabolism (IEM). The objective of the study was to expand knowledge about breastfeeding and the degree of contribution of breast milk to the feeding of infants with IEM before and after the introduction of expanded newborn screening. A retrospective single-centre study was conducted on 127 infants born between 1997 and 2020: 66 with phenylketonuria (PKU), 45 with other IEM (non-PKU), all diagnosed through newborn screening (NBS), and 16 non-PKU diagnosed through selective screening (SS).

In vitro attenuation of astrocyte activation and neuroinflammation through ibuprofen-doping of poly(3,4-ethylenedioxypyrrole) formulations.

Neuroinflammation is often associated with poor functional recovery and may contribute to or initiate the development of severe neurological disorders, such as epilepsy, Parkinson's disease or Alzheimer's disease. Ibuprofen (IBU), being one of the most commonly used non-steroidal anti-inflammatory drugs, is known to possess neuroprotective activity and serve as a promising therapeutic for the treatment of neuroinflammation. In this study, the potential of an IBU-loaded poly(3,4-ethylenedioxypyrrole) (PEDOP) matrix has been assessed as a neural interface material with an aim to control astrocyte activation and suppress neuroinflammation in vitro.

Dietary practices in methylmalonic acidaemia: a European survey.

Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe.

Difficulties in the dietary management of a girl with two diseases requiring a special diet.

3-Methylcrotonylglycinuria (3-MCG) is an autosomal recessive inborn error of leucine metabolism caused by the deficiency of 3-methylocrotonyl-CoA carboxylase (3-MCC deficiency). It is the most commonly detected organic aciduria in newborn screening conducted by tandem mass spectrometry (MS/MS) [1, 2]. The clinical phenotype is heterogeneous, ranging from asymptomatic to acute metabolic decompensations [3, 4].

Deviations in Peripheral Blood Cell Populations are Associated with the Stage of Primary Biliary Cholangitis and Presence of Itching.

To evaluate the role of Th17, Treg cells, activated T CD3 and B CD19 lymphocytes in primary biliary cholangitis (PBC) patients. 40 female patients with PBC and 20 healthy donors were enrolled in this study. The percentages and absolute counts of Th17, Treg, activated T CD3, B CD19, NK, NKT-like lymphocytes were measured by flow cytometry.

A novel approach to genome-wide association analysis identifies genetic associations with primary biliary cholangitis and primary sclerosing cholangitis in Polish patients.

Background: Primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC) are forms of hepatic autoimmunity, and risk for both diseases has a strong genetic component. This study aimed to define the genetic architecture of PBC and PSC within the Polish population.

Methods: Subjects were 443 women with PBC, 120 patients with PSC, and 934 healthy controls recruited from Gastroenterology Departments in various Polish hospitals.

QT Interval Prolongation and QRS Voltage Reduction in Patients with Liver Cirrhosis.

Background: Liver cirrhosis is associated with functional abnormalities of the cardiovascular system with co-existing electrocardiographic (ECG) abnormalities.

Objectives: The aim was to analyze ECG changes in patients with cirrhosis, to evaluate whether alcoholic etiology of cirrhosis and ascites has an impact on ECG changes.

Material And Methods: The study involved 81 patients with previously untreated alcoholic cirrhosis (64 patients with ascites, classes B and C according to the Child-Pugh classification; and 17 without ascites, categorized as class A); 41 patients with previously untreated cirrhosis due to chronic hepatitis C (HCV--30 patients with ascites, classes B and C; and 11 without ascites, class A); 42 with alcoholic steatohepatitis and 46 with alcoholic steatosis.

Hepatomegaly, weight loss and general malaise - the first manifestations of primary systemic amyloidosis.

Amyloidosis is characterised by the accumulation of poorly soluble fibrous proteins in the extracellular space of various bodily organs. Light chain amyloidosis (AL) is recognised as the most common form of systemic amyloidosis. Light chains are deposited in the majority of bodily organs, and accumulation of them in the liver produces hepatomegaly.

[Serum iron parameters in chronic liver diseses].

Unlabelled: Iron is an essential micronutrient of almost all organisms, which is involved in many metabolic processes. Disorders of serum iron balance that relate mainly to its deficiency are frequently observed in patients with liver diseases. The aim of the study was the evaluation of serum iron parameters in patients with different chronic liver diseases and analysis of the relationships between serum level of iron, ferritin and transferrin in women and men in groups examined.

Behavioral and intellectual functioning in patients with tyrosinemia type I.

Introduction: In tyrosinemia type I (TT1) increased level of tyrosine and phenylalanine (both precursors of neurotransmitters), may potentially influence patients' cognitive development.

Aim Of The Study: Was to evaluate if the children during the treatment with phenylalanine- and tyrosine-restricted diet and nitisinone present with cognitive, emotional or behavioral problems and to find out whether plasma tyrosine and phenylalanine levels may have impact on this.

Material And Methods: Cognitive development and behavior, together with plasma tyrosine and phenylalanine levels, were analyzed in eight patients during their first five years of nitisinone treatment.

[Evaluation of alpha-fetoprotein concentration in patients with chronic liver diseases].

Unlabelled: Alpha-fetoprotein (AFP) is a tumor marker used in clinical diagnosis and for monitoring the course of treatment. Serum concentration of AFP in excess of several hundred ng/ml is nearly 100 percent positive predictive value for hepatocellular carcinoma. The aim of this study was evaluation of AFP serum concentration in patients with different chronic liver diseases and the relationship between the concentration of AFP and gender in the studied groups of patients.

The N34S mutation of the SPINK1 gene and alcoholic chronic pancreatitis.

Introduction:  Recent studies have shown the key role of genetic factors in the development of chronic pancreatitis.

Objectives:  The aim of the study was to establish whether the frequency of the N34S mutation of serine protease inhibitor Kazal type 1 (SPINK1) gene differs between patients with alcoholic chronic pancreatitis, patients with nonalcoholic chronic pancreatitis, alcoholics without any digestive organ damage, and controls. We also sought to investigate whether the frequency of this mutation differs between women and men, and whether the mutation is associated with the age of patients at first diagnosis of chronic pancreatitis.

[Ascites as the first manifestation of ovarian cancer in the disseminated stage--case report].

The presence of ascites is usually associated with portal hypertension, usually due to cirrhosis of the liver, with portal vein thrombosis, congestive cardiac failure, nephrotic syndrome, pancreatitis, tuberculosis. Approximately 10% of all cases of ascites occurs in malignant tumors, mostly of ovarian cancer. The purpose of this publication is to present the case of 63-year-old woman who has a basic and initial sole manifestation of disease--cancer of the ovary--was increasing ascites.

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene.

Natural history of the disease in 4 unrelated Polish children with homozygous familial hypercholesterolemia (FH) is described. Their phenotypic homozygosity was established by identification of known LDLR gene mutations on both alleles, respectively: p.G592E & p.

[Maple Syrup Urine Disease in a newborn infant].

Maple Syrup Urine Disease (MSUD) is a severe metabolic disorder secondary to an enzyme defect in the catabolic pathway of the branched chain amino acids: leucine, isoleucine and valine. Accumulation of these amino acids and derived from them alpha-keto-acids leads to encephalopathy and progressive degeneration of the nervous system in undiagnosed and hence untreated patients. Early diagnosis and elimination diet prevent complications and therefore create a possibility of both normal intellectual and physical progress.

[Compliance of the diet restricted with leucine, isoleucine and valine in maple syrup urine disease (MSUD) children].

The aim of this study was to evaluate the compliance of the diet with limited branched-chain amino acids (BCAA) content in long-term observation of patients with maple syrup urine disease (MSUD). The study group consisted of 7 children at age of 1.5-18 years.

Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia.

Abnormalities in protein glycosylation are reported in fructosemia (HFI) and galactosemia, although, particularly in HFI, the published data are limited to single cases. The purpose was to investigate the usefulness of the carbohydrate-deficient transferrin (CDT) profile for identification and monitoring of these disorders. First we analyzed CDT values before and shortly after the diagnosis in 10 cases of HFI and 17 cases of galactosemia.