IMPAIRMENT OF PEROXISOME BIOGENESIS IN THE SPECTRUM OF ZELLWEGER SYNDROME (CLINICAL CASE).

The incidence of rare diseases is approximately two cases per 10,000 people. Today, in most cases, orphan diseases are caused by genetic disorders, less often - some forms of oncological, oncohematological, infectious disorders. These conditions have a severe and chronic course, accompanied by a decrease in quality and a reduction in the life expectancy of patients. Aim - describe a clinical case of an rare disease that is referred to as Zellweger spectrum disorders. Literature review and analysis of clinical-anamnestic and laboratory-instrumental methods of research of a 6.5 years old girl. The given clinical case, namely Zellweger spectrum disorders (ZSD), is a hereditary autosomal recessive disease characterized by nonspecific clinical manifestations and phenotype, which complicates timely diagnosis and delays symptomatic, and in some cases prognostically favorable treatment. Molecular genetic research makes it possible to finally confirm this disease. Therefore, at the slightest suspicion of this pathology, it is worth investigating the level of long-chain fatty acids, plasmalogen of erythrocytes, intermediate metabolites of bile acid synthesis, or carrying out genetic sequencing. Further studies of this condition are carried out in the world in order to obtain new methods of treatment and improve the quality of life of patients. The presented clinical case of a rare disease, which belongs to ZSD, confirms the need for alertness of family doctors and pediatricians in order to timely diagnose and correct rare diseases in children.

ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE).

The oral-facial-digital syndrome belongs to a group of hereditary diseases, manifested by multiple birth defects (usually, the face and fingers). At the current stage, there are 14 genetic variations of the oral-facial-digital syndrome. The presence of various abnormalities of the oral cavity, face and fingers is common for all of them, but each syndrome has a specific phenotype or type of inheritance. The etiology of this syndrome is unknown. It is inherited in an X-linked dominant pattern. Aim of the study: to describe and analyze the clinical case of oral-facial-digital syndrome. Data of the patient (Kira M., 11 months old): clinical-anamnestic examination, chest radiography, ultrasound investigation, molecular-genetic testing OFD1. Results Numerous miliae are detected on the face and ears of the child. Facial dysmorphy (large wide eyes, epicantus, wide nose bridge, telecantus, small mouth, small beak shaped nose, hypoplasia of the wings of the nose, small chin). The large fontanel is closed. Focal alopecia and dry hair are noted. Syndactyly of 2nd-3rd toes, asymmetrical shortening of the index finger of the right hand. Oral cavity examination reveals cleft palate, ankyloglossy and tongue lobulation. Transcranial ultrasonography: M echodex = 50.0 mm. M echosin = 52.0 mm. VIII = 6.9 mm (N up to 3.0 mm). V latdex = 24.4 mm, V latsin = 25.0 mm (N up to 16.0 mm). Neurologist's consultation: "Congenital brain malformation: agenesis of corpus callosum, congenital cerebral cysts." Ultrasound examination of the abdominal organs detected liver enlargement (anteroposterior size of the right lobe: 78 mm (N up to 65 mm), left lobe: 0.38 mm (+1.5 cm) Conclusion Oral-facial-digital syndrome type I is an inherited pathology, which in most cases is diagnosed immediately after birth on the basis of oral, facial and digital anomalies. Molecular genetic study makes it possible to confirm this disease and provide counseling to family members. Elimination of some developmental defects (hard palate plastic, correction of frenulum hyperthrophy), as well as a properly selected complex of therapeutic and rehabilitation measures greatly improves the quality of life of the patient and contributes to a favorable forecast.

Selected response test items.

Classroom assessment is complex and challenging. Teachers need to consider the cognitive, affective, and psychomotor levels for achievement of their educational objectives. This series of six articles discusses how to develop testing blue-prints; selected-response tests, including multiple-choice, true-false, matching, or other objective tests; completion or essay testing; problem solving/critical thinking activities; performance assessment; and computer-based testing.

Strategies for managing conflict.

As nursing becomes more international, it is becoming increasingly important to know how different cultures respond to various phenomena. Below the authors compare conflict handling modes of Italian nurses with those of American nurse and business managers.

Historical development of doctoral programs from the Middle Ages to nursing education today.

Marriner-Tomey's article on the development of doctoral programs reaches into the Middle Ages and carries us forward to doctoral education in nursing today. Understanding the roots from which our education processes have arisen helps us to understand the present and plan for the future.

Sophomore high school students' perceptions of ideal and nursing career choices.

To increase the number of practicing nurses, high school students must be attracted to nursing as a career. This study compares sophomore high school students' perceptions of an ideal career with their perceptions of nursing as a career. Differences are identified and potential recruitment solutions suggested.

[Experimental study of nutritional protein deficit with simple diets]. / Estudio experimental del déficit nutricional proteico con dietas sencillas.

The easy and economic way of designing diets with differrent protein contents is pointed out. It was studied the effect of diets with 27%, 18%, 9%, 4,5% and 0% of proteins on body weight, liver weight and liver protein content through their administration to white 21 day old rats for 7 or 14 days. An effect of dietetic protein deficit on one out of these variables was evidenced.