RECURRENT DELETION OF THE REGION ENCODING TWO (Gly-X-Y) REPEATS IN PATIENTS WITH ANHIDROTIC ECTODERMAL DYSPLASIA INDICATES IMPORTANT ROLE FOR COLLAGEN-LIKE DOMAIN OF THE EDA GENE PRODUCT - ECTODYSPLASIN-A

We have investigated the structure of the EDA gene in a patient with the clinical symptoms of anhidrotic ectodermal dysplasia (EDA). Electrophoretic analysis of the amplified fragment of exon 5 of the EDA gene in the affected boy revealed a PCR product that was shorter by ~20 bp than the same fragment obtained from a healthy individual. A similar shortened fragment, in addition to a normal one, also was found in his mother, suggesting that she was the carrier of this mutation. Sequence analysis of the mutated fragment displayed an 18bp deletion, extending either from nucleotide 891 to 908 or from nucleotide 901 to 918. The deleted fragment encodes two (Gly-X-Y) repeats in the collagen-like domain of ectodysplasin-A , thus reducing the number of repeats from 19 to 17. These two mutations increase to 9 the number of deletions in exon 5 described so far. The recurrent character of these mutations indicates that the collagen-like domain of ectodysplasin-A plays a critical role in the structure of this receptor and that the deletion may be responsible for the clinical symptoms of EDA.     

Ludowe zabobony i przesądy czy racjonalne metody żywienia noworodków i niemowląt w końcu XVIII i w XIX stuleciu?

The article presents opinions that prevailed among the country population, as well as physician reports regarding feeding of newborns and infants on Polish lands. This information is from the turn of the 18^th and 19^th centuries. Information regarding various ways of feeding the newborns can be found in historical monographs and articles. Breast feeding by mother or a wet nurse was essential to the child's healthy development. However, for numerous reasons human milk was being substituted by animal milk, especially cow milk, horse milk and donkey milk. The folk methods of substituting mother's milk were often surprising and harmful for the baby. Moreover, according to epidemiological research of those times, medical recommendations regarding the use of artificial food had a significant influence on high mortality among babies.     

Ostre zatrzymanie moczu – opis przypadków

Acute urinary retention (AUR) in children is rare, but should be immediately diagnosed and treated. We report two patients with AUR: 13-year-old girl with urinary retention due to hematocolpos resulting from an imperforate hymen and 4-year-old boy with urinary tract infection and psychological retention of urine.     

Łagodne ostre dziecięce zapalenie mięśni – opis przypadku

Muscle pain is a symptom of many childhood diseases. Withdrawal symptoms from skeletal muscle associate respiratory infections of viral etiology, that resolve spontaneously without leaving any serious consequences. They may, however, be the first symptom of syndromes where fast and accurate diagnosis helps to avoid complications dangerous to life and health. We describe a 4-year-old boy who was admitted to the Pediatrics Department in Wrze?nia with symptoms of benign acute childhood myositis (BACM). The patient had been treated in outpatient clinic because of a respiratory infection. Based on history and clinical presentation, after excluding other reasons above mentioned disease entity was diagnosed. After symptomatic treatment clinical improvement was achieved. Pediatricians and doctors treating adolescent patients in the emergency room should remember BACM as a rare and self-limiting disease, which, however, because of the signs and symptoms of clinical laboratory tests requires a differential diagnosis and vigilant observation.     

Ectopic pituitary adenoma. Case report and review of literature

Ectopic pituitary adenomas are very rare neoplasms. They are usually located in the sphenoid sinus or nasopharynx. Ectopic tumors derive from a residual pituitary fragment in the craniopharyngeal duct. They are similar in morphology, immunohistochemistry and hormonal activity to the typical pituitary adenoma. One third ectopic pituitary tumors reported in the literature are endocrine inactive, while the remaining ones indicate a hormonal activity and usually secrete ACTH, causing the Cushing disease. About 50% of pituitary adenomas are located at the skull base and present as aggressive neoplasms. The computed axial tomography (CAT) and magnetic resonance imaging (MRI) are very useful in revealing the presence of these tumors. Preoperative diagnosis of ectopic pituitary adenomas located at the skull base is difficult. Diagnostic procedures usually suggest another type of neoplasm, e.g. chordoma, nasopharyngeal carcinoma, or a metastatic tumor. Pathological examination including immunohistochemical studies of neuroendocrine markers is important in establishing the diagnosis. A unique case of ectopic, nonfunctioning pituitary adenoma involving the sphenoid sinus and nasopharynx and causing palsy of cranial nerves is presented. MRI examination revealed the presence of a large invasive tumor. The neoplasm was partially resected by transnasal approach. The diagnosis was confirmed by a pathological examination including immunohistochemical smears.     

Treatment trials in Niemann-Pick type C disease

Niemann-Pick type C (NPC) disease is a genetically determined neurodegenerative metabolic disease. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transport in late endosomes or lysosomes. It is an autosomal recessive inherited disease that results from mutations in the NPC1 or NPC2 genes. The treatment efforts are focused on the slowing its progression. The only registered drug, devoted for NPC patients is Miglustat. Effective treatment is still under development. NPC disease mainly affects the nervous system, and the crossing of the blood–brain barrier by medicines is still a challenge, therefore the combination therapies of several compounds are increasingly being worked on. The aim of this paper is to present the possibilities in treatment of Niemann-Pick type C disease. The discussed research results relate to animal studies.

     

Challenges in the Fabrication of Biodegradable and Implantable Optical Fibers for Biomedical Applications

The limited penetration depth of visible light in biological tissues has encouraged researchers to develop novel implantable light-guiding devices. Optical fibers and waveguides that are made from biocompatible and biodegradable materials offer a straightforward but effective approach to overcome this issue. In the last decade, various optically transparent biomaterials, as well as different fabrication techniques, have been investigated for this purpose, and in view of obtaining fully fledged optical fibers. This article reviews the state-of-the-art in the development of biocompatible and biodegradable optical fibers. Whilst several reviews that focus on the chemical properties of the biomaterials from which these optical waveguides can be made have been published, a systematic review about the actual optical fibers made from these materials and the different fabrication processes is not available yet. This prompted us to investigate the essential properties of these biomaterials, in view of fabricating optical fibers, and in particular to look into the issues related to fabrication techniques, and also to discuss the challenges in the use and operation of these optical fibers. We close our review with a summary and an outline of the applications that may benefit from these novel optical waveguides.     

Creep Life Prediction of 10CrMo9–10 Steel by Larson–Miller Model

Creep is defined as the permanent deformation of materials under the effect of sustained stress and elevated temperature for long periods of time, which can essentially lead to fracture. Due to very time-consuming and expensive testing requirements, existing experimental creep data are often analyzed using derived engineering parameters and models to predict and find the correlations between creep life (time to rupture), temperature and stress. The objective of this study was to analyze and compare different numerical algorithms by using the Larson–Miller parameter (LMP) extrapolation model. Calculations were performed using the classical LMP equation where different values of parameter C were selected, as well as using a modified LMP equation in which parameter C was stress dependent C(σ). The impact of two different approaches of extrapolation and correlation functions (linear and polynomial) applied to fit the LMP model was also investigated. A detailed analysis was performed to choose the best extrapolation fit function and error tolerance. The numerical algorithm implemented was validated through creep rupture testing performed on 10CrMo9–10 steel at 600 °C (873 K) and 80 MPa. Creep model behavior analysis proved that different values of C can significantly change the estimated time to rupture. An excellent response of the LMP model was obtained by considering polynomial dependency when parameter C was assumed to be 18, especially for the temperature range from 773 to 873 K. Promising results were also achieved when parameter C was taken as stress-dependent, but only for linear fitting, which requires further analysis. However, at validation stage it turned out that only the linear extrapolation function and C taken as a constant value provided adequate time-to-rupture prediction. In the case of C = 18, estimated time was slightly overestimated (~8%) and for C = 20 it was underestimated by 27%. In all other cases error largely exceeded 50%.     

Transplantation of amniotic membrane for patients with bullous keratopathy and chemical and thermal burns

The aim of this paper is, to evaluate the efficacy of amniotic membrane transplantation for ocular surface reconstruction in patients with bullous keratopathy and chemical and thermal burns of cornea and conjunctiva. Amniotic membrane is a thin, semitransparent tissue forming an innermost layer of the fetal membrane, which contains a thick basement membrane with a single layer of epithelium and avascular matrix. This transplantation promotes normal conjunctival epithelization while suppressing fibrosis formation. Amniotic membrane transplant may be considered as an alternative method for treating ocular surface reconstruction in patients with thermal and chemical burns. Authors suggest that this method of treatment is not efficient in patients with bullous keratopathy.