Clinical and neuropathological picture of familial encephalopathy with bifunctional protein deficiency

Peroxisomal diseases are a heterogeneous group of genetic metabolic disorders which are caused by incorrect biogenesis of peroxisomes or a defect in activity of particular enzymes located in those organelles. D-bifunctional protein (D-BP) deficiency belongs to the second group of peroxisomal diseases characterised by dysfunction of a single peroxisomal enzyme. Bifunctional protein is a catalyst in the second and third stage of the \beta-oxidation of fatty acids. Gene locus of bifunctional protein deficiency comprises chromosomes 5q2 and 3p23-p22. The authors present two siblings with progressing family encephalopathy. In the younger brother the diagnosis of a bifunctional protein deficiency was made. The girl died before a diagnosis was made; however, due to the presence of a very similar clinical condition a suspicion arises that the girl had a peroxisomal disease. In the siblings were ascertained characteristic dysmorphic features, delayed psychomotor development, polymorphic epileptic seizures and generalized muscular hypotonia with areflexia. The neuropathological findings were consistent in general with MRI findings showing features of hypomyelination. Also neuron heterotopias that were found in autopsy are a form of pathology typical for D-BP

Bioactive Compounds as Potential Agents for Sexually Transmitted Diseases Management: A Review to Explore Molecular Mechanisms of Action

Sexually transmitted diseases (STDs) are produced by pathogens like bacteria, fungi, parasites, and viruses, and may generate severe health problems such as cancer, ulcers, and even problems in the newborn. This narrative review aims to present updated information about the use of natural bioactive compounds for the prevention and treatment of sexually transmitted infections. A search of the literature was performed using databases and search engines such as PubMed, Scopus, Google Scholar and Science Direct. From the pharmacotherapeutic management point of view, any strategies for prevention should contain medical approaches. The bioactive compounds obtained from natural products have shown biological effects against different microorganisms for the treatment of these diseases. The main results showed antimicrobial, antiprotozoal, antifungal and antiviral effects such as HIV. Also, the molecular mechanisms, signalling pathways and action targets of natural compounds were highlighted, thus justifying bacterial and antifungal inhibition, apoptosis or reduction of viral replication. From the data of our study, we can conclude that natural compounds may be a significant source for adjuvant drugs / complementary therapies in the treatment of STDs. With all these benefits, the future must conduct extensive clinical trials and the development of pharmaceutical nanotechnologies for a greater therapeutic effect.This work was supported by CONICYT PIA/APOYO CCTE AFB170007. The project is supported under the program of the Minister of Science and Higher Education under the name “Regional Initiative of Excellence” in 2019–2022 project number: 024/RID/2018/19 and by Medical University of Lublin, Poland, University Grant number: DS 07/2021. This study partially supported by Canakkale Onsekiz Mart University (Scientific Research Projects, ID: FYL-2017–1339 and FBA-2017–1268)

Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3

Angelman syndrome (AS) is a neurobehavioral disorder associated with mental retardation, absence of language development, characteristic electroencephalography (EEG) abnormalities and epilepsy, happy disposition, movement or balance disorders, and autistic behaviors. The molecular defects underlying AS are heterogeneous, including large maternal deletions of chromosome 15q11–q13 (70%), paternal uniparental disomy (UPD) of chromosome 15 (5%), imprinting mutations (rare), and mutations in the E6-AP ubiquitin ligase gene UBE3A (15%). Although patients with UBE3A mutations have a wide spectrum of neurological phenotypes, their features are usually milder than AS patients with deletions of 15q11–q13. Using a chromosomal engineering strategy, we generated mutant mice with a 1.6-Mb chromosomal deletion from Ube3a to Gabrb3, which inactivated the Ube3a and Gabrb3 genes and deleted the Atp10a gene. Homozygous deletion mutant mice died in the perinatal period due to a cleft palate resulting from the null mutation in Gabrb3 gene. Mice with a maternal deletion (m−/p+) were viable and did not have any obvious developmental defects. Expression analysis of the maternal and paternal deletion mice confirmed that the Ube3a gene is maternally expressed in brain, and showed that the Atp10a and Gabrb3 genes are biallelically expressed in all brain sub-regions studied. Maternal (m−/p+), but not paternal (m+/p−), deletion mice had increased spontaneous seizure activity and abnormal EEG. Extensive behavioral analyses revealed significant impairment in motor function, learning and memory tasks, and anxiety-related measures assayed in the light-dark box in maternal deletion but not paternal deletion mice. Ultrasonic vocalization (USV) recording in newborns revealed that maternal deletion pups emitted significantly more USVs than wild-type littermates. The increased USV in maternal deletion mice suggests abnormal signaling behavior between mothers and pups that may reflect abnormal communication behaviors in human AS patients. Thus, mutant mice with a maternal deletion from Ube3a to Gabrb3 provide an AS mouse model that is molecularly more similar to the contiguous gene deletion form of AS in humans than mice with Ube3a mutation alone. These mice will be valuable for future comparative studies to mice with maternal deficiency of Ube3a alone

Investigation into the effect of nano-silica on the protective properties of polyurethane coatings

The effect of nano-silica particles on the protective properties of polyurethane (PU) coatings has been investigated. Current PU clear coats have shown promising scratch, abrasion and UV resistance properties, however their corrosion resistance has not been much investigated. This study focuses on the effect of non-polar nano-silica particles on electrochemical properties of 2-pack polyurethane matrix. Nano silica was incorporated at different levels into acrylic polyol/HDI polyisocyanate polyurethane matrix and cured at three different temperatures (20 °C, 70 °C and 110 °C). DC resistance technique and Electrochemical Impedance Spectroscopy (EIS) have been employed to evaluate protective properties. Free films were prepared to determine the water-uptake using coating capacitance function measured in the early stages of exposure. Also the effect of nanoparticles on cross-linking density and glass transition temperature (Tg) was investigated by Dynamical Mechanical Thermal Analysis (DMTA) technique. Abrasion resistance was evaluated using Taber abrasion tester by measuring the weight loss from a coated panel. Electrochemical results showed a positive effect on the permeability properties for PU coatings with 5% of embedded nano-silica particles. Also coatings cured at higher temperatures showed improved protective properties. The Tg also increased with elevated curing temperature which was attributed to an increase in cross-linking density. The Taber abrasion test indicates that both, nano-silica particles and higher curing temperatures enhance abrasion resistance

Investigation into the effect of nano-silica on the protective properties of polyurethane coatings

The effect of nano-silica particles on the protective properties of polyurethane (PU) coatings has been investigated. Current PU clear coats have shown promising scratch, abrasion and UV resistance properties, however their corrosion resistance has not been much investigated. This study focuses on the effect of non-polar nano-silica particles on electrochemical properties of 2-pack polyurethane matrix. Nano silica was incorporated at different levels into acrylic polyol/HDI polyisocyanate polyurethane matrix and cured at three different temperatures (20 °C, 70 °C and 110 °C). DC resistance technique and Electrochemical Impedance Spectroscopy (EIS) have been employed to evaluate protective properties. Free films were prepared to determine the water-uptake using coating capacitance function measured in the early stages of exposure. Also the effect of nanoparticles on cross-linking density and glass transition temperature (Tg) was investigated by Dynamical Mechanical Thermal Analysis (DMTA) technique. Abrasion resistance was evaluated using Taber abrasion tester by measuring the weight loss from a coated panel. Electrochemical results showed a positive effect on the permeability properties for PU coatings with 5% of embedded nano-silica particles. Also coatings cured at higher temperatures showed improved protective properties. The Tg also increased with elevated curing temperature which was attributed to an increase in cross-linking density. The Taber abrasion test indicates that both, nano-silica particles and higher curing temperatures enhance abrasion resistance

Investigation into the effect of nano-silica particles on the protective properties of polyurethane coatings

The effect of nano-silica particles on the protective properties of polyurethane (PU) coatings has been investigated. Current PU clear coats have shown promising scratch, abrasion and UV resistance properties, however their corrosion resistance has not been much investigated. This study focuses on the effect of non-polar nano-silica particles on electrochemical properties of 2-pack polyurethane matrix. Nano silica was incorporated at different levels into acrylic polyol/HDI polyisocyanate polyurethane matrix and cured at three different temperatures (20 degrees C, 70 degrees C and 110 degrees C). DC resistance technique and Electrochemical Impedance Spectroscopy (EIS) have been employed to evaluate protective properties. Free films were prepared to determine the water-uptake using coating capacitance function measured in the early stages of exposure. Also the effect of nanoparticles on cross-linking density and glass transition temperature (T-g) was investigated by Dynamical Mechanical Thermal Analysis (DMTA) technique. Abrasion resistance was evaluated using Taber abrasion tester by measuring the weight loss from a coated panel. Electrochemical results showed a positive effect on the permeability properties for PU coatings with 5% of embedded nano-silica particles. Also coatings cured at higher temperatures showed improved protective properties. The T-g also increased with elevated curing temperature which was attributed to an increase in cross-linking density. The Taber abrasion test indicates that both, nano-silica particles and higher curing temperatures enhance abrasion resistance

Physiotherapy in pulmonology

Przewlekła obturacyjna choroba płuc (POCHP) jest najczęstszą przyczyną przewlekłych chorób układu oddechowego. Podstawową formą terapii POCHP jest leczenifarmakologiczne. Celem artykułu jest podkreślenie znaczenia leczeniausprawniającego. Głównym zadaniem rehabilitacji jest złagodzenie objawów choroby i poprawa jakości życia. Program rehabilitacji dotyczy także problemów pozapłucnych, wśród nich zmniejszonej kondycji fizycznej, wyobcowania społecznego, obniżenia nastroju z przewagą zachowań depresyjnych, zaniku mięśni, utraty masy ciała. Integralną częścią programu rehabilitacyjnego jest poradnictwo dotyczące metod zerwania z nałogiem palenia tytoniu oraz poradnictwo dietetyczne. W pracy przedstawiono główne kierunki rehabilitacji w leczeniu tej choroby, podkreślając jednocześnie wartość i skuteczność tej formy terapii.The chronic obstructive pulmonary disease (COPD) is the most frequent reason of the chronic diseases respiratory system. The main form of therapy of COPD is pharmacological treatment. The aim of this paper is to highlight the place of rehabilitation within the therapy course. The main objectives of rehabilitation are following: to combat disease symptoms and to increase the life quality. The rehabilitation process concerns also other issues like: decreased fitness, social alienation, deterioration of psychical condition, depressive behavior, muscles atrophy, weight loss. The rehabilitation should help to terminate the smoking habit and should include dietetic program, as well. The presented paper focuses on rehabilitation modalities in a treatment of COPD and demonstrates the efficiency of this form of therapy

The wheel chair as indispensable instrumentation for disabled people

Nowoczesne metody rehabilitacji nie zastąpią adaptacji pacjenta do wózka inwalidzkiego oraz nauki poruszania się na nim. Wózek inwalidzki stanowi podstawę lokomocji dla osób ze znacznym uszkodzeniem rdzenia oraz dla pacjentów paraplegików z nie-wielkimi niedowładami, ale obciążonych współistniejącymi chorobami układu krążenia i oddechowego. Istotny element stanowi wyposażenie pacjenta w odpowiedni wózek i poduszkę przeciwodleżynową. Wszystkie działania mają na celu przeciwstawienie się statycznemu trybowi życia osoby po urazie rdzenia kręgowego, zwiększenie niezależności funkcjonalnej, poprawienie jakości życia i profilaktykę powikłań medycznych.The modern methods can not replace the adaptation of a patient toa wheel chair and education on its operation. The wheel chair is still the basis of locomotion for people with considerable spinal cord damage, as well as for patients-paraplegics with small paresis, but who are loaded with co-existing illnesses of circulatory and respiratory systems. The essential element in rehabilitation is patient's equipment and ortopedic supports, such as: a wheel chair and anti-decubitus ulcers pillows. The aim of all of these activities is to prevent the static lifestyle of paraplegics, to improve the quality of life and to prevent medical complications