Chromosomal deletion syndromes: common types, causes and detection methods

Kromosomi su strukture sastavljene od molekule DNA-a i histonskih proteina koji nose gensku informaciju. Nalaze se u jezgri stanice i postaju vidljivi pod svjetlosnim mikroskopom tijekom stanične diobe. Kariogram je grafički prikaz broja i strukture kromosoma, pri čemu normalni ljudski kariogram ima 46 kromosoma raspoređenih u 23 homologna para. Promjene u broju ili strukturi kromosoma uzrok su različitih genskih stanja i sindroma. Kromosomske delecije predstavljaju jedan od najtežih oblika kromosomskih aberacija jer uključuju gubitak genskog materijala, uzrokujući teške poremećaje kao što su sindrom cri du chat te Wolf-Hirschhornov, Prader-Willijev i Angelmanov sindrom. Prenatalne dijagnostičke metode primjenjuju se za provjeru fetalnog rasta i razvoja i određivanje vrste fetalne abnormalnosti, ako je prisutna, s uobičajenim postupcima koji uključuju ultrazvuk, amniocentezu, biopsiju korionskih resica i kordocentezu. Konačna dijagnoza postavlja se laboratorijskim metodama kao što su kariotipizacija, fluorescentna in situ hibridizacija i analiza kromosomskih mikročipova.Chromosomes are structures composed of a DNA molecule and histone proteins that carry genetic information. They are located in the cell nucleus and become visible under light microscope during cell division. A karyogram is used to depict the number and structure of chromosomes, whereby a normal human karyogram has 46 chromosomes arranged in 23 homologous pairs. Changes in the number or structure of chromosomes lead to various genetic conditions and syndromes. Chromosomal deletions represent one of the most severe forms of chromosomal aberrations as they involve the loss of genetic material, causing severe disorders such as cri-du-chat, Wolf-Hirschhorn, Prader-Willi and Angelman syndromes. Prenatal diagnostic methods are used to check fetal growth and development and determine a type of fetal abnormality, if present, with commonly performed procedures including ultrasound, amniocentesis, chorionic villus sampling and cordocentesis. Final diagnosis is established through laboratory methods such as karyotyping, fluorescence in situ hybridization and chromosomal microarray analysis

Importance of Exercise in Diabetes

Sve je veći broj oboljelih osoba od dijabetesa, kako u svijetu tako i u Hrvatskoj. Procjene govore o ukupnoj brojci od 415 milijuna oboljelih. Broj oboljelih, a posebice onih s dijagnozom dijabetesa tipa 2, upućuje na neuredan način života, odnosno loše prehrambene navike, sedentaran način života i stres. Liječenje dijabetesa provodi se pravilnom prehranom, redovitom tjelesnom aktivnošću i medikamentnom terapijom, a sve u cilju regulacije glikemije. Tjelesna aktivnost sastavni je dio liječenja dijabetesa jer se njezinim provođenjem održava odgovarajuća razina glikemije, poboljšava lipidni status te povećava osjetljivost stanica na inzulin. Ujedno se vježbanjem smanjuje potreba za inzulinom jer mišići svojom kontrakcijom pojačano troše glukozu. Dozvoljene su sve vrste tjelesne aktivnosti, ponekad uz određena individualna ograničenja, a najviše koristi polučuje ako se vježbanje provodi redovito i uz umjereni intenzitet, ali uz određeni oprez, posebice ako su prisutne komplikacije bolesti. Posebnu pažnju treba posvetiti riziku od hipoglikemije, jer se prilikom tjelovježbe smanjuje razina glukoze. Prije provođenja tjelesne aktivnosti potrebno je provjeriti razinu glukoze te tomu prilagoditi tjelesnu aktivnost ili je odgoditi u slučaju previsoke ili preniske razine. Istraživanja su pokazala da aerobne i anaerobne aktivnosti utječu na regulaciju glukoze. Prije svega, preporučuju se vježbe fleksibilnosti (iako nemaju izravan utjecaj na smanjenje glukoze) te vježbe balansa, koje smanjuju mogućnost padova. Preporučuje se 150 minuta tjedno umjerene do snažne aktivnosti.Primjerice, vježbe se mogu provoditi umjerenim intenzitetom uz 15 ponavljanja ili jakim intenzitetom uz šest do osam ponavljanja. Možemo zaključiti da je redovita tjelovježba nužna za očuvanje zdravlja i kvalitete života oboljelih od dijabetesa.There is an increasing number of people with diabetes, both in the world and in Croatia. Estimates speak of a total of 415 million people. The number of people with diabetes, especially those diagnosed with type 2 diabetes, indicates a disorderly way of life, poor eating habits, sedentary lifestyle and stress. The treatment of diabetes is carried out with proper nutrition, regular physical activity and medication therapy, all in order to regulate glycemia. Physical activity is an integral part of the diabetes treatment because it maintains an adequate glycemic level, improves lipid status and increases cell sensitivity to insulin. Furthermore, the need for insulin is reduced because the mechanism of muscle contraction increases glucose consumption. All kinds of physical activity are allowed, sometimes with certain individual limitations, and most benefit is expected when exercise is performed regularly with moderate intensity but with particular caution, especially if complications of the disease are present. Special attention should be paid to the risk of hypoglycaemia, as it reduces glucose levels during exercise. Before carrying out physical activity, it is necessary to check the level of glucose and adjust or postpone the activity in case of excessive or too low glucose levels. Studies have shown that aerobic and anaerobic activities affect the regulation of glucose. First of all, flexibility exercises are recommended (though they do not have a direct impact on glucose reduction), as well as balance excercises that reduce the chance of falling. It is recommended to undertake 150 minutes a week of moderate to strong activity. For example, exercises can be performed with moderate intensity at 15 repetitions or high intensity with 6 to 8 repeats. We can conclude that regular exercise is necessary to preserve the health and life quality of people affected with diabetes

Distribution and genetic status of brown bears in FYR Macedonia: implications for conservation

Abstract Conservation and management of large carnivores is often hampered by the lack of information of basic biological parameters. This is particularly true for brown bears (Ursus arctos) in the Former Yugoslav Republic (FYR) of Macedonia. The bear population in this country is important, as it links bear populations of the central part of the DinaricPindos population and the endangered population to the south in Greece. The aim of this study was to assess bear presence in FYR Macedonia and to provide the first evaluation of the genetic status of the species in this country. Bear presence was assessed through a questionnaire and sign surveys, while the genetic status of the species was evaluated through noninvasive genetic sampling from power poles and microsatellite analysis. The results of the study indicate the continuous and permanent presence of brown bears in FYR Macedonia from the border to Kosovo in the northwest, along the border to Albania and Greece in the south; bear presence around Mount Kožuf in the south of the country was seasonal. High levels of genetic diversity were recorded, and it appears that this bear population is currently not threatened by low genetic variability. Cross-border movements of bears between FYR Macedonia and Greece were documented, indicating the presence of an interconnected population and outlining the necessity for a coordinated international approach in the monitoring and conservation of the species in southeastern Europe

Mitochondrial DNA monomorphism in Red-billed Choughs Pyrrhocorax pyrrhocoraxin the United Kingdom

The UK population of Red-billed Choughs probably belongs to a single matrilineal group

A comprehensive mitochondrial dna mixed-stock analysis clarifies the composition of loggerhead turtle aggregates in the Adriatic sea

Migration is one of several marine vertebrate traits increasingly affected by human encroachment. The Adriatic Sea is an important foraging and wintering site for loggerhead turtles (Caretta caretta), and one of the Mediterranean regions where they are most heavily impacted, particularly by fisheries bycatch. Conservation measures concern foraging and wintering areas and nesting grounds, and must, therefore, be informed by the natal origin of individuals in these mixed aggregates. Genetic diversity was investigated among 488 loggerheads found stranded or incidentally captured in fishing gear across the Adriatic and the origin of individuals was assessed through mixed-stock analysis based on comparison of 755 bp of mitochondrial DNA control region sequence. In addition, we highlight the importance of the Gulf of Manfredonia (Apulia, Italy), and of the northeastern Adriatic—a previously genetically undescribed foraging ground. No significant genetic divergence was recorded among sampling areas, between turtles sampled in cold and warm months or between adults and juveniles. The distribution of turtles across the Adriatic Sea appeared not to depend on individual origin. Rookeries in western Greece and Crete provided the most important contributions to the Adriatic mixed stock. In particular, the Greek populations were the most abundant locally in the Gulf of Manfredonia, so they are likely to experience an even greater impact than previously thought because of the severe fishery bycatch levels in this area. This study also provides an example of how substantial increases in sample sizes permit a relatively comprehensive testing of genetic structure across groupings in foraging aggregations