Glycation. A study about regeneration

Chair of Human Physiology and Biophysics, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, Republic of Moldova, The 6th International Medical Congress for Students and Young DoctorsIntroduction: Glycation is a chemical process in which proteins are conjugated with glucose, it is characteristic for persons who are suffering for insipid diabetes, but also it is common in cases of a high level of blood glucose. With reference to organism different functions degeneration, including a bad angiogenesis, caused by glycation, it was purposed to observe how a high sugar alimentation would influence the time of regeneration in an animal organism. Materials and methods: For this study, was taken 40 mice and separated in 6 groups, I- 10 mice, about 1.5 years old, high sugar diet, II- 10 mice, about 1.5 years, ordinary food, III- 5 mice, about 7 month old, high sugar diet, IV- 6 mice, about 7 month old, ordinary food, V- 3 mice, about 8 month old, high sugar diet, VI- 6 mice, about 6 month old, high sugar diet. At 10-th day, a small incision on lower limb was did on each mouse, after, it was observed the time of regeneration in each group. As food was served: in groups with ordinary food, wheat, bread, carrot, beet; in groups with high sugar diet, wheat, bread, carrot, beet, sugar and different sweets. Discussion results: In first days of experiment, it was observed that groups of mice, which had a ordinary diet were more active, they ran and played more than groups with a high sugar diet.Also it was determined that groups of mice with high sugar diet like vegetables more than groups without sugar supplement. After incisions this processes also was common. Analyzing regeneration, it may be said that, in first days after incisions it was observed that in groups of elder mice and with ordinary food,animals felt better, and regeneration had a higher speed than group with a high sugar diet. Anyway at the final of experiment their results in regeneration was approximatively equal. In younger groups in firs days also was present this phenomenon, but it continued, and in the end groups with ordinary diet had results better with about 1-2 days than groups with high sugar diet. Also it was noticed a strange thing, mice with high sugar diet had a strange fur, like it was wet or something like that. Conclusion: In younger mice, the speed of regeneration is higher when alimentation is ordinary than when alimentation is rich in sugar, in elder mice the speed of regeneration is approximatively equal. Remain to demonstrate this not only through subjective methods, but also through objective like histochemical methods

Analiza caracteristicilor clinice și molecular-genetice ale sindromului Wiskott-Aldrich și trombocitopenia X-linkată

Institute of Mother and Child, Republic of Moldova, Nicolae Testemitanu State University of Medicine and Pharmacy, Republic of MoldovaIntroduction. Wiskott-Aldrich syndrome is a rare X-linked disorder characterized by microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations of the WAS gene which encodes the WAS protein (WASp) – a key regulator of actin polymerization in hematopoietic cells. Mutations within the WASp gene result in a wide heterogeneity of clinical disease, ranging from ‘classical WAS’ to mild asymptomatic thrombocytopenia (X-linked thrombocytopenia [XLT]), or congenital neutropenia (X-lined neutropenia [XLN]). Case presentation. This present paper reports a phenotypical and laboratory description of two children diagnosed with WAS and one child diagnosed with XLT. The first case was a six months old male with septicemia, thrombocytopenia, eczema and petechial rash. The second case was a 2 years old boy presenting with complaints of recurrent infections, eczema and thrombocytopenia with small platelet size. The third case was a 16 years old boy who presented with thrombocytopenia and recurrent sinopulmonary infections. Conclusions. Due to a wide spectrum of clinical findings, the diagnosis of WAS/XLT should be considered in any male patient presenting with petechiae, bruises, and congenital or early-onset thrombocytopenia associated with small platelet size.Introducere. Sindromul Wiskott-Aldrich este o afecțiune rară X-linkată, caracterizată prin microtrombocitopenie, eczeme și infecții recurente. Acesta este cauzat de mutații ale genei WAS, care codifică proteina WAS (WASp) - un regulator cheie al polimerizării actinei în celulele hematopoietice. Mutațiile din gena WASp generează o eterogenitate largă a bolii clinice, variind de la „WAS clasic” la trombocitopenie asimptomatică ușoară (trombocitopenie X-linkată [XLT]) sau la neutropenie congenitală (neutropenie X-linkată [XLN]). Prezentarea cazului. Este raportată descrierea, fenotipică și de laborator, a doi copii diagnosticați cu WAS și a unui copil diagnosticat cu XLT. În primul caz, un băiat în vârstă de șase luni, cu septicemie, trombocitopenie, eczemă și erupții de tip peteșii. În al doilea caz, un băiat de 2 ani, care a prezentat acuze de infecții recurente, eczemă și trombocitopenie, cu dimensiune mică a trombocitelor. Iar în al treilea caz, un băiat de 16 ani, care s-a adresat cu acuze de infecții sinopulmonare recurente și trombocitopenie. Concluzii. Datorită spectrului larg de manifestări clinice, diagnosticul WAS/XLT trebuie luat în considerare la orice pacient de sex masculin, care prezintă erupții de tip peteșii, echimoze și trombocitopenie congenitală sau cu debut precoce, asociată cu o dimensiune mică a trombocitelor

The screening by isoelectric focusing of transferrin for the diagnosis of congenital disorders of glycosylation

Background: Congenital Disorders of Glycosylation (CDG) are a group of inherited metabolic disorders caused by the defect in various steps in the biosynthesis of glycoproteins and other glycoconjugates. Material and methods: 40 patients under clinical suspicions for CDG at the Institute of Mother and Child were examined by isoelectric focusing of transferrin (IEFT) in collaboration with RadboudUMC, Netherlands and U.S.A. The spectrum of clinical presentations of these patients was multisystem damage, predominantly neurological manifestations. Results: Most of the patients (55%) had early neurological manifestations from the birth, such as hypotonia, psychomotor disability, cerebral MRI abnormalities, seizures (25%), cutis laxa (17.5%), total alopecia (2.5%), abnormal fat pads (2.5%), myopia (7.5%), nystagmus (5%), strabismus (2.5%), stroke-like episodes (2.5.%), ataxia (7.5%), abnormal coagulation (10%), hepatomegaly (35%) and liver cirrhosis (2.5%). Serum samples analyzed by IEFT showed the results: 37 normal, 2 questionable and 1 abnormal patterns. Two samples questionable belongs to the patients with Galactosemia and Fructosemia, which give the false-positive results. The last positive sample is performed additionally for glycomics profiling. In some cases, with IEFT negative profile was performed genetic test and were diagnosed other diseases, mimicking CDG, such as: NARP syndrome, late diagnosed PKU, GSD, Manosidoses, Prader-Willi Syndrome and chromosomal aberrations. Conclusions: The CDG is a rare metabolic disease with multisystem impairment and variety of symptoms which determine overlapping of phenotype with other genetic disorders. The process of diagnosis is very complex and can take several years