Minisatellite instability (Msi) of hMLH1, hMSH2 genes in Lynch syndrome

Scopul lucrării. Sindromul Lynch, cunoscut și sub numele de cancer colorectal ereditar non-polipozic (HNPCC) reprezintă un sindrom de cancer ereditar asociat cu o predispoziție genetică la diverse tipuri de cancer (colorectal, endometrial, ovarian la mai multe rude din aceeași familie). Evoluția clinică obscură a sindromului Lynch necesită o implimentare a investigaţiilor genetico-moleculare în procesul de diagnostic. Scopul este cercetarea genetică a genelor hMLH1, hMSH2 implicate în mecanismul de tumorogeneză. Materiale și metode. În perioada 2014-2022 a fost observat un lot de 49 bolnavi, din aceștia la 16(32,7%) pacienţi s-a depistat IMS. În identificarea asocierilor genetice dintre spectrele polimorfe de ADN şi manifestările clinice ale maladiilor precanceroase (tumorigene) studiate s-a utilizat tehnica PCR a eşantioanelor de ADN izolate de la pacienţii cercetaţi. Rezultate. În urma reacţiei RT-PCR pe baza ARN-lui izolat din materialul biologic, s-au constatat 33(67,3%) cazuri cu expresie negativă, rezultat pozitiv de gradul I(+) a fost determinat în 10(20,4%)cazuri şi gradul II(++) în 6(12,3%)cazuri. A fost confirmată originea HNPCC la nivel molecular și determinată valoarea aspectului polimorf al genelor hMLH1, hMSH2, gradul şi frecvenţa de expresie ale lor în ţesuturile tumorale. Concluzii. Tehnica RT-PCR contribuie diagnosticarea precoce şi eradicarea HNPCC la etapele incipiente de dezvoltare.Aim of study. Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is a hereditary cancer syndrome associated with a genetic predisposition to various types of cancer (colorectal, endometrial, ovarian in several relatives in the same family). The obscure clinical evolution of Lynch syndrome requires the implementation of genetic-molecular investigations in the diagnostic process. The goal is genetic research of the hMLH1, hMSH2 genes involved in the mechanism of tumorigenesis. Materials and methods. In the period 2014-2022, a group of 49 patients was observed, of which 16 (32.7%) patients were diagnosed with IMS. In the identification of the genetic associations between the polymorphic DNA spectra and the clinical manifestations of the studied precancerous (tumorigenic) diseases, the PCR technique of the DNA samples isolated from the investigated patients was used. Results. Following the RT-PCR reaction based on the RNA isolated from the biological material, 33(67.3%) cases with negative expression were found, a positive grade I(+) result was determined in 10(20.4%) ) cases and grade II(++) in 6(12.3%) cases. The origin of HNPCC was confirmed at the molecular level and the value of the polymorphic appearance of the hMLH1, hMSH2 genes, the degree and frequency of their expression in the tumor tissues was determined. Conclusions. The RT-PCR technique contributes to the diagnosis and eradication of HNPCC at the early stages of development

Hemicolectomy treatment at patients witn dolicocolon - the clinic’s experience

Catedra chirurgie nr. 2, USMF „Nicolae Testemiţanu”, Chişinău, Republica Moldova, Conferința stiințifică „Nicolae Anestiadi – nume etern al chirurgiei basarabene” consacrată centenarului de la nașterea profesorului Nicolae Anestiadi 26 august 2016Introducere. Colostază cronică instalată pe fondal de dolicocolon, incorijabile conservator, epuizează considerabil pacienţii, afectând grav statutul lor psihologic. Tratamentul chirurgical în aceste cazuri reprezintă ultima speranță , dar din nefericire, uneori fiind unul sub aşteptare. Studiul nostru relevă analiza comparativă a rezultatelor precoce şi tardive ale diferitor gesturi chirurgicale aplicate pacienţilor cu dolicocolon. Scopul lucrării. Efectuarea unui studiu comparativ de tratament chirurgical tradiţional şi miniinvaziv în colostaza cronică decompensată. Material şi metode. In perioada anilor 2000-2015 în clinica 2 chirurgie au fost internaţi si tratați chirurgical 142 pacienţi cu dolicocolon. Raportul dintre bărbaţi şi femei a fost de 1:6, iar vârsta medie a pacienţilor a constituit 46 ani. Metoda clasică de rezecţie a colonului sigmoid s-a aplicat în 97 (68.3%) cazuri, hemicolonectomii pe dreapta 18 (12,7%) cazuri, rezecţii laparascopice s-au realizat în 27 cazuri (19,1%). Rezultate. Au fost comparate rezultatele postoperatorii la pacienţii operaţi cu un abord tradiţional (lotul 1) versus bolnavii supuşi intervenţiilor miniinvazve (lotul 2). Durata spitalizării pacienţilor primului lot a constituit 12,8 zile, faţă de 7,5 zile pentru pacienţii operaţi laparascopic. Complicaţiile postoperatorii în lotul 1 au constituit 14,6%, pe când în lotul de studiu doar 9,1%. O atenţie deosebită s-a acordat perioadei postoperatorii tardive, ce a permis de a constata, că pacienţii supuşi rezecţiilor estinse (hemicolonectomii) au beneficiat de rezultate pozitive în 94,4% cazuri, pe când la pacienţii cu rezecţii sectorale ameliorarea s-a înregistrat doar în 62,9% cazuri. Concluzii. Dolicolonul refracter la medicaţia conservativă rămâne a fi o indicaţie pentru tratament chirurgical. Volumul şi tipul intervenţiei se va stabili individual într-o strictă corelare cu rezultatele de examinare obţinute preoperator.Introduction. Major suffering of the patients with chronic colostasis installed in case of dolichocolon which cannot be treated using the conservative methods exhausts the patients affecting their psychological status. The surgical treatment in these cases becomes the last hope, but the results could be below expectations. Our study presents the comparative analysis of the precocious and late results of the different kinds of the surgical treatments applied to the patients with dolichosigma. Aid of study. Performing a comparative study of the traditional and miniinvasive surgical treatments in case of chronic colostasis. Material and methods. During the period 2000-2015 in the surgical clinic 2, 142 patients with dolichocolon have been hospitalized and have undergone the surgical treatments. The ratio of men and women have been 1:6, the average of age has been 46 years. Classical methods of resection have been applied to 97 patients, right hemicolectomy - to 18 patients, laparascopic resection have been performed to 27 patients. Results. Postoperative results of two groups of the patients have been compared: the patients treated traditionally via the patients treated using miniinvasive methods. The time of hospitalization in first case was 12.8 days via 7,5 days for patients which have been treated using the laparascopic surgery. Postoperative complications constitute in the first group 14,6%, but in the second group only 9,1%. A special attention was related to the late postoperative period and this permitted to establish that the patients with extended resections (hemicolectomies) had good results in 92,1% cases, and in the patients with segmental resections the improvement was recorded just in 68,7% cases. Conclusions. The dolichocolon which cannot be treated conservative remains to be a indication for a surgical treatment. The volume and type of the operation will be established individually in correlation with the results of preoperative examination

Refractory constipation

Catedra de chirugie nr. 4, Universitatea de Stat de Medicină și Chirurgie “Nicolae Testemițanu”, Chișinău, Republica Moldova, Al XIII-lea Congres al Asociației Chirurgilor „Nicolae Anestiadi” și al III-lea Congres al Societății de Endoscopie, Chirurgie miniminvazivă și Ultrasonografie ”V.M.Guțu” din Republica MoldovaIntroducere: Constipația cronică este una dintre cele mai frecvente plângeri (9-20%) cu care se confruntă medicii zilnic, fiind răspândită preponderent în rândul sexului feminin. Varietatea opțiunilor terapeutice nu întotdeauna oferă rezultate satisfăcătoare, lăsând loc pentru procedeele chirurgicale, ce reprezintă unica metodă salvatoare în aceste cazuri. Scopul lucrării. Implementarea tratamentului chirurgical miniinvaziv in constipatia refractara. Material si metode: Într-o perioadă de 10 ani (2009-2018) am tratat chirurgical 32 pacienti cu constipație cronică refractară. Predominant a fost sexul femenin 32/2 și vârsta medie de 45 ani (18-72 ani). Perioada în care pacienții au prezentat simptome caracteristice, fără răspuns la tratamentul medical, a alcătuit în mediu 96 luni cu limite între 48-360 luni. Investigațiile preoperatorii au inclus colonoscopia, irigografia și manometria anorectală . Rezultate: La 4 (12.5%) pacienți megacolonul s-a asociat maladiei Hirschsprung, iar la 5 (15.6%) cu diverticuloza colonului. Operația preponderentă la etapa initială a constituit colectomia totală și anastomoza ileo-rectală (I grup: 14 pacienți). Actualmente operația preferabilă (grupul II de baza: 18 pacienți) este rezecția colonului drept (cec și ascendent) și stâng (descendent cu sigmoidul și rectul anterior) cu păstrarea colonului transvers care în 12 cazuri a fost realizată pe cale laparoscopică. Rezultatele la distanță au fost net superioare în grupul II. Concluzii: Examinarea preoperatorie minuțioasa și selecția pacienților sunt esențiale pentru obținerea rezultatelor funcționale bune.Background: Chronic constipation is one of the most frequent symptoms (9-20%) that doctors meet in their daily activities, being prevalent among female sex. The variation in therapeutic options does not always provide satisfactory results, leaving room for surgical procedures, which is the only saving method in these cases. The aim. The study of patients with refractory constipation. Methods and materials: During a 10 year period (2009 to 2018) 32 patients with chronic refractory constipation were treated. Female sex dominated with 30 patients. The average age was 45 years (18-72 years). The period in which the patients had a refractory response to medical treatment was on average 96 months, with limits between 48-360 months. The clinical investiagion included: colonoscopy, irigoscopy and anorectal manometry. Results: In 4 cases (12.5 %) megacolon was associated with Hirschprung disease, and in 5 cases (15.6 %) with colonic diverticulosis. Initialy the main operation was total colectomy with ileo-rectal anastomosis (Ist group: 14 patients). At the moment the preferable operation is right and left colectomy (cecum and ascendent colon with descendent, sigmoid colon and anterior rectum) preserving transverse colon, that was done in 12 cases with a laparoscopic approach. Distant results were net superior in II-nd group. Conclusion: Careful pre-operative examination and patient selection are essential for achieving good functional outcomes

Efficiency of application topical timolol 0.5% prevented migraine attacks

Institute for Neurology and Neurosurgery, Department of Ophtalmology, Nicolae Testemitsanu State University of Medicine and Pharmacy, Chisinau, the Republic of MoldovaBackground: Migraine is a chronic neurological disorder characterized by recurrent episodes of headache and associated symptoms that last 4-72 hours. It is a disease with genetic substrate, very common, debilitating and costly, with a considerable socioeconomic impact, recorded mainly in the most productive period of life between 25 and 55 years. Migraine is often associated with photophobia, phonophobia, vertigo, sometimes vomiting, fatigue. For the treatment of migraine attacks are recommended NSAIDS, triptans, ergot preparations. For preventive treatment are recommended β-adrenergic blockers, calcium channel inhibitors, serotonin antagonists, tranquilizers, antidepressants. Typically, most of such pharmaceuticals are administered orally. Since most of migraine attacks are accompanied with a retro-orbital pain, the efficacy and safety of topical Timolol 0.5% on blockage of β-adrenergic receptors for preventing migraine headaches are assessed. Beta-blockers are awell-known prophylactic treatment for migraine; however, treatment by the ocular route has not been widely considered. Timolol maleate eye drops 0.5% have been prescribed as a prophylactic treatment against migraine headaches, according to reports with success in terms of the prophylactic effect of such treatment. Conclusion: This article presents cases from the literature that illustrate the resolution of a visual field defect, ophtalmoplegia and another simptoms associated with migraine possibly due to administration of a topical beta-blocker. This novel method of treatment may have a place in the management of migraine. Timolol maleate eye drop is an effictive, well-tolerated, safe, and easy-to-use prophylactic antimigraine medication

The management of severe digestive bleeding in Crohn's disease

Catedra Chirurgie nr. 2, LCŞ „Chirurgie reconstructivă a tractului digestiv”, USMF ”Nicolae Testemițanu”, Chișinău, Moldova, Conferința stiințifică „Nicolae Anestiadi – nume etern al chirurgiei basarabene” consacrată centenarului de la nașterea profesorului Nicolae Anestiadi 26 august 2016Introducere. Hemoragiile digestive sunt o complicație relativ rară a bolii Crohn [BC] iar particularitățile evolutive nu sunt bine cunoscute și reprezintă o provocare diagnostică și curativă. Material și metoda. Având în vedere acestea studiul efectuat, în cadrul LCŞ „Chirurgie Reconstructivă a Tractului Digestiv” asupra 85 pacienți cu BC urmăreşte aspectele de conduită medico chirurgicală în cazul hemoragiilor severe la pacienții cu BC. Rezultate. Semne de hemoragie severă (hemoglobina sub 90g/1l) au prezentat 6(7.14%) și au necesitat transfuzii >2 unități de sânge în 24 de ore. Au fost înregistrate22 episoade de hemoragie. Conform indexării CDAI: forma medie a fost atestată la 2(33.22%), forma gravă la 4(66.66%) dintre bolnavi. Toți pacienții au fost examinați ecografic, radiologic, colonoscopia efectuată la 3 pacienți fără identificarea sursei hemoragiei. În dependenţă de gradul de hemoragie pacienţii au fost repartizați: gr.I -2(33.32%), gr.II -3(50%) şi gr.III -1(16.66%). Pentru transfuzie au fost necesare 8,6 pungi de sânge în primele 48 ore. Din motive religioase 1(16.66%) pacient a refuzat categoric transfuzia sângelui. Intervențiile chirurgicale efectuate: colectomia subtotală în 3(50%); colectomia totală cu prezervarea rectului -1(16.66%); colproctectomie subtotală cu păstrarea canalului anal -1(16.66%); hemicolonectomie extinsă pe dreapta cu montarea ascendostomei terminale și sigmostomei proximale -1(16.66%). Letalitatea postoperatorie 1(16.66%) caz. Concluzii. Pacienții cu BC sunt un grup heterogen, evoluția dificilă de precizat la fiecare pacient, Hemoragia în BC deși rară este o complicație gravă care prezintă pericol iminent pentru viață. Problemele majore sunt aprecierea sursei hemoragiei și stabilizarea hemodinamică. Intervenția chirurgicală este inevitabilă în cazul hemoragiilor severe și recurente.Introduction. Digestive bleeding is a relative rare complication of Crohn disease [CD], but the evolutive particularities are not well known and this represents a diagnostic and curative challenge. Materials and Methods. A study on 85 patients with [CD] was performed. The data of medical and surgical aspects of severe bleeding in 6 (7.14%) cases have been evaluated. Results. Signs of severe bleeding (Hb>90 g/l) were in 6(7,14%) and needed over 2 blood units in 24h. Were registered 22 episodes of hemorrhage. According CDAI index: the moderate form attested in 2(33,22%), severe form in 4(66,66%) cases. All the patients passed through ecographic, radiologic investigations, colonoscopy performed in 3 cases the source of bleeding was not found. According to bleeding severity the patients were devised in 3 degrees: I-2(33,32%), II-3(50%) and III-1(16,66%). For transfusions were used 8,6 packs of blood during first 48h. From religious matter 1(16,66%) a patient refused blood transfusion. Operations performed: subtotal colectomy in 3(50%)cases, total colectomy with rectum preservation in 1 (16,66%), subtotal colproctectomy with saving the anal cannal in 1(16,66%), extensive right hemicolectomy wit terminal ascendostoma and proximal sigmostoma in 1(16,66%). Postopperative letality in 1(16,66%) case. Conclusions. The patients with CD are a heterogene group, the disease evolution is hard to appreciate for each patient. The bleeding in [CD] is a rare and severe complication that represents an imminent danger for life. The major problems are the detecting the source of the bleeding and hemodynamic stabilization. The surgical intervention in inevitable during severe and recurrent bleeding

Ophthalmic manifestations of chronic migraine

Department of Ophthalmology, Nicolae Testemitsanu State University of Medicine and Pharmacy, Institute for Neurology and Neurosurgery, Chisinau, the Republic of MoldovaBackground: Migraine is a common disorder and its pathogenesis remains still unclear. Several hypotheses about the mechanisms involved in the pathogenesis of migraine have been proposed, but the issue is still far from being fully clarified. Neurovascular system remains one of the most important mechanisms involved in the pathogenesis of migraine and it could be possible that hypo-perfusion might involve other areas besides brain, including the retina. This is, for example, of particular interest in a form of migraine, the retinal migraine, which has been associated with hypo-perfusion and vasoconstriction of the retinal vasculature. Although vasoconstriction of cerebral and retinal vessels is a transient phenomenon, the chronic nature of the migraine might cause permanent structural abnormalities of the brain and also of the retina. On this basis, a few studies have evaluated whether retina is involved in migraine patients. Migraine is divided into two major subtypes: migraine without aura and migraine with aura. Migraine without aura is characterized by at least five attacks of recurrent headache lasting somewhere from 4 to 72 h. The other major subtype is migraine with aura, characterized by recurrent attacks of reversible focal neurological symptoms that usually develop gradually over 5-20 min and last for less than 60 min. If aura-like phenomenon is persistent, and ophtalmic deaseases are excluded, an examination through neurovisualization is recommended (MRI, CT). Conclusions: Although the vasospasm of cerebral and retro-bulbar blood vesselsis a transient phenomenon, the chronic nature of the disease might be a risk factor for structural abnormalities of the brain and perhaps the retin