Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation.

AIM: Congenital disorders of glycosylation (CDG) belong to an expanding group of rare genetic metabolic disorders caused by defects in the complex chemical enzymatic process of glycosylation. The study is aimed at presenting a case report of a premature dysmorphic newborn, clinical presentation of the condition, the way it was diagnosed and treated, as well as its comparison with the known cases. RESULTS: The result of glycan analysis supports the assumption of a supposed glycosylation disorder and also specifies a specific subtype: CDG-1, subtype ALG12-CDG (Ig). CONCLUSION: CDG have an extremely wide clinical spectrum and should be considered in any child with unexplained developmental delay, failure to thrive, seizures, and abnormalities in liver enzymes, coagulation and immunologic factors. The treatment of most forms of CDG depends upon numerous factors such as specific symptoms present, severity of the disorder, age and overall health of the patients and tolerance to certain medications or procedures. For these reasons, the treatment is specific for every individual. It is based on the symptoms and requires a coordination of efforts of a team of specialists (Tab. 4, Fig. 3, Ref. 19).

Rare causes of respiratory insufficiency in newborns.

Congenital lung masses (CLM) the rare group of causes of acute respiratory insufficiency (RI) in newborns include congenital airway pulmonary malformation (CAPM), congenital overinflation, bronchopulmonary sequestration, and bronchial atresia. The presenting group consists of 13 newborns who were admitted to the Neonatal Department of Intensive Medicine (NDIM) during January 1st 2015-December 31st 2019 (8 males, 5 females, 2 premature/11 term newborns, spontaneous delivery: 2, caesarean section: 11) with positive prenatal diagnosis of CAPM in all cases. In 2 cases prenatal intervention was performed (drainage of the amniotic fluid, attempt of thoracentesis). Signs of acute RI immediately after delivery were seen in 5 newborns. Postnatal echocardiographic investigation confirmed the presence of increased pulmonary pressure in 8 patients, no patient had congenital heart abnormality. A thorax x-ray was positive also in asymptomatic patients. Computed tomography in patients brought detailed information about the position, size and character of CAPM. Six patients underwent surgery. In 15.4 % right lungs were affected by cystic malformation and in 23 % left lungs were affected. A final diagnosis of CAPM was confirmed in 5 patients using histopathologic examination. Multidisciplinary cooperation during prenatal as well as postnatal period is necessary.

Exact determination of optimal nutritional composition for at-risk newborns tolerating enteral intake-breast milk analysis as a routine future standard in neonatal care.

AIM: To analyse the dynamics of macronutrients in breast milk in Slovakian women and compare the dynamics between mothers of hospitalized newborns and donors of human breast milk relative to the gestational age of their babies. METHODS: Human milk samples were collected from 101 breastfeeding women and analysed once or repeatedly from September 2017 to August 2018. Group A consisted of 79 mothers of newborns hospitalized at the Neonatal Department of Intensive Medicine (NDIM) of whom 69 were mothers of premature newborns (subgroup A1) and 10 were mothers of term babies (subgroup A2). Group B consisted of 22 breast milk donors registered at the Human Milk Bank at National Institute of Children's Diseases (NICHD). Of these, 4 were mothers of premature newborns (subgroup B1) and 18 were mothers of term newborns (subgroup B2). From subgroup A1, we chose two mothers, one with a hypotrophic newborn and another with a eutrophic newborn. The results were obtained by using the MIRIS breast­milk analyzer. RESULTS: The overall dynamics of macronutrients correspond with other studies, however, we demonstrated that the level of macronutrients in individual cases were different. CONCLUSION: The determination of macronutrients in human milk is essential in neonatal care. It provides information about the nutritional value of breast milk and helps to optimise nutrition according to the individual needs of newborns (Fig. 10, Ref. 16).

Existence of uncoupling protein-2 antigen in isolated mitochondria from various tissues.

Antibodies against Escherichia coli-expressed uncoupling protein-2 (UCP2) and uncoupling protein-3 (UCP3) were raised by operating the blotted proteins into the spleen of minipigs. The antisera reacted more intensively with the recombinant UCP2 and UCP3 than with uncoupling protein-1 (UCP1) isolated from brown adipose tissue. Moreover, anti-UCP2 and cross-reacting anti-UCP3 antibodies identified the presence of the UCP2/3 antigen in isolated mitochondria from rat heart, rat kidney, rat brain, rabbit epididymal white adipose tissue, hamster brown adipose tissue, and rabbit skeletal muscle. It has been concluded that UCP2 is expressed in these tissues (UCP3 in skeletal muscle); however their existence in mitochondria had not previously been demonstrated.