Пренатальная диагностика мышечной дистрофии и спинальной мышечной атрофии за последние 4 года и эффективности существующей методологии пренатальной диагностики в Республике Молдова

IMSP Institutul Mamei şi Copilului Centrul de Sănătate a Reproducerii şi Genetică MedicalăIntroduction. The severity of hereditary diseases is already well known throughout the world. The monitoring and prevention of hereditary diseases are the current tasks of medical genetics and health. Prenatal diagnosis (PD) is one of the methods proposed to prevent the birth of children with congenital malformations incorrigible, monogenic and chromosomal pathologies. Muscular dystrophy Duchenne / Becker and spinal muscular atrophies are neuromuscular hereditary X-linked and respectively autosomal recessive disorders and that are frequently encountered in Moldova and can be detected through prenatal diagnosis. Materials and methods. The research was held in the scientific department of the Centre for Reproductive Health and Medical Genetics, Laboratory of Human Molecular Genetics. After medico-genetic consultation pregnant women who are at risk of having a pregnancy affected by a hereditary disease, namely Duchenne and Becker muscular dystrophy (DMD/B) and spinal muscular atrophy (SMA) undergo prenatal diagnosis (PD), which Moldova is achieved by methods such as multiplex PCR, PCR / RFLP, the primer sets specific and polymorphic sites. Purpose. The purpose of the work is to present data of prenatal diagnosis of neuromuscular disorders with high frequency in Moldova during the last four years. Results. In total were performed 14 prenatal diagnoses: 9 - DMD/B and 5 for SMA during 2011-2014. Making the prenatal diagnosis of DMD/B and SMA has allowed the direct analysis of deletions or RFLP test and were detected 4 affected fetuses, 3 of them were with DMD / B and 1 with SMA. Have been analyzed the strategies for prenatal diagnosis of these diseases in different countries and their methods. Conclusions. Prenatal diagnosis is an important strategy and an effective way to prevent the birth of children with hereditary monogenic diseases in families at risk. This strategy applies to all populations, but with different methodologies. The methods of modern molecular genetic prenatal diagnosis raise the efficiency and precision to 98%. The efficiency of prenatal diagnosis in Moldova is 71,4%. Analyzing different diagnostic methods used in the world was proposed as the method which will be better implemented in Moldova.Введение. Тяжесть наследственных заболеваний хорошо известна во всем мире. Лечебно-диагностические стратегии и методы анализируются и затем ставятся акценты в их развитии. Ключевой особенностью является неравномерного их распределение. Мониторинг и предотвращение наследственных заболеваний являются текущими задачами медицинской генетики. Пренатальная диагностика (ПД) является главным методом предотвращения рождения детей с моногенной и хромосомной патологии. Миодистрофия Дюшенна / Беккера и спинальная мышечная атрофия являются наследственными нервно-мышечными болезнями, которые часто встречаются в Р. Молдова и проведение ПД этих заболеваний возможно в нашей стране. Материалы и методы. Исследования проводились в научном отделе Центра Репродуктивного Здоровья и Медицинской Генетики, в лаборатории молекулярной генетики человека. После медико-генетического консультирования беременных женщин с высоким риском наследственных болезней, а именно МДД/Б и СМА проводится ПД. Мультиплексная ПЦР и анализ сцепления (ПЦР- ПДРФ) используются в Республике Молдова. Цель. Анализ результатов пренатальной диагностики, проведенных за последние четыре года в Лаборатории молекулярной генетики человека и оценка эффективности ПД в РМ. Результаты. В течение 2011-2014г. было сделано 14 пренатальных диагностических тестов: 9ПД на МДД/Б и 5 на СМА. Используя прямой поиск протяженных делеций методом МПЦР и анализ сцепления (ПЦР- ПДРФ) позволило выявить 4 плода с наследственными болезнями: 3 плода с МДД/Б и одного c СМА. Проанализировано стратегии и методы ПД, использующиеся в разных странах в настоящее время и проведен анализ эффективности применения существующих методов ПД в РМ. Эффективность составляет 71,4%. Выводы. Пренатальная диагностика является важной стратегией и эффективным способом предотвратить рождение детей с наследственными моногенными заболеваниями. Стратегия ПД применяется во многих популяциях, но с использованием различных методов. Применение молекулярно-генетических методов при современной ПД повышает эффективность и точность до 98% по данным литературы, но эффективность ПД в РМ составляет 71,4%. Предложены современные молекулярно-генетические методы ПД, которые повысят эффективность и точность ПД

Analiza activităţii fotosintetice şi transpiraţiei la pomii de păr în dependenţă de acţiunea substanţelor biologic active

Research to elucidate the effectiveness of photosynthesis and transpiration intensity in depending on the donor –acceptor process in pear plants has been carried out. The obtained results have shown that the physiological state of the plants during the active of the vegetation period can be characterized depending on the season and the specificity of the vegetation period performance in dynamic of the photosynthesis efficacy and transpiration activity . It has been established that in the spring, during the vegetation period, the pear trees with the increase of the intensity of the photosynthesis and transpiration activity

Гастро-эзофагиальная рефлюксная болезнь: атипичные клинические проявления и влияние на качество жизни больных

Spitalul Clinic al Ministerului Sănătăţii, Chişinău, Catedra Medicină internă nr. 6, USMF „Nicolae Testemiţanu”, Spitalul Feroviar, Chişinău, Conferinţa Ştiinţifico-Practică „Medicina modernă, actualităţi şi perspective”, consacrată aniversării de 40 de ani ai Spitalului Clinic al Ministerului Sănătăţii, 27-28 mai, 2010, Chişinău, Republica MoldovaIn this work data are presented about the influence of gastro-esophageal reflux disease on patient’s lifestyle, having an obscure evolution, but sometimes with severe atypical evolution and complications (hemorrhages, perforations, esophageal cancer) which may lead to death.В настоящем обзоре литературы приводятся данные о влиянии гастро-эзофагиальной рефлюксной болезни на качество жизни больных, которая может протекать со стертой клинической картиной, а иногда с тяжелым атипичным течением и развитием различных тяжелых осложнений (кровотечения, перфорации, рак пищевода) приводящих к смерти

The surgical treatment of hydatid liver cyst

Republica Moldova Curs Chirurgie Generală Facultatea Stomatologie USMF “N. Testemiţanu”, Al XI-lea Congres al Asociației Chirurgilor „Nicolae Anestiadi” din Republica Moldova și cea de-a XXXIII-a Reuniune a Chirurgilor din Moldova „Iacomi-Răzeșu” 27-30 septembrie 2011Introducere: Scopul studiului este aprecierea eficacității tratamentului chirurgical şi a complicațiilor intra- şi postoperatorii ale chistului hidatic hepatic. Material şi metode: În studiu au fost incluşi 46 pacienți diagnosticați cu chist hidatic al ficatului, ce s-au aflat la tratament în secțiile de chirurgie a SCC st. Chişinău şi a SCMC în perioada 2009-2011. Din cei 46 de pacienți la 35 (76,08%) s-a efectuat tratament chirurgical tradițional: Chistectomia ideală - pentru chisturi mici necomplicate în 12 cazuri; Perichistectomia parțială cu secționarea membranei perichistice şi plombarea cavității restante cu epiploon fără drenare în 6 cazuri; Perichistectomia parțială cu drenarea cavității restante şi a spațiului subdiafragmal şi subhepatic în 13 cazuri; Rezecția atipică a ficatului în 4 cazuri. Ceilalți 11(23,92%) pacienți au fost supuşi tratamentului chirurgical laparoscopic: Chistectomia ideală celioscopică - 1 caz; Perichistectomia parțială cu secționarea membranei perichistice şi plombarea cavității restante cu epiploon fără drenare - 3 cazuri; Perichistectomia parțială cu drenarea cavității restante şi a spațiului subdiafragmal şi subhepatic - 7 cazuri. Rezultate: În cadrul studiului în urma tratamentului chirurgical tradițional, complicațiile au avut o pondere de 14,28% (supurarea lojei restante 3 cazuri, biliragie-1 caz, fistula biliară dirijată-1 caz). În urma chistectomiei ideale n-au fost semnalate complicații. După intervențiile chirurgicale laparascopice complicații au avut loc în 18,18 % cazuri (supurarea lojei restante 1 caz, biliragie-1 caz). Concluzii: În cazul localizării chistului hidatic hepatic în S VII-VIII sunt preferabile intervențiile chirurgicale tradiționale, cu sau fără drenarea cavității restante. Localizarea superficială a chistului în S II-III şi S V-VI este optimală pentru utilizarea metodei laparoscopice.Introduction: The aim of the study is the evaluation of efficacy of surgical treatment and intra - and postoperative complications of hydatid liver cyst. Materials and methods: There have been included 46 patients diagnosed with hydatid liver cyst, who were treated in the surgical departements of SCC st. Chisinau and SCMC during 2009-2011. Out of those 46 patients - in 35 (76,08%) there has been applied traditional surgical treatment: Ideal cystectomy – for small uncomplicated cysts in 12 cases; Partial pericystectomy with sectioning of pericystic membrane and narrowing of residual cyst cavity with epiploon without drainage in 6 cases; Partial pericystectomy with drainage of the residual cavity and of subdiaphragmal and subhepatic spaces in 13 cases; Atypical liver resection in 4 cases.The other 11(23,92%) patients underwent laparoscopic surgical treatment: Ideal celioscopic cystectomy - 1 case; Partial pericystectomy with sectioning of pericystic membrane and narrowing of residual cyst cavity with epiploon without drainage - 3 cases; Partial pericystectomy with drainage of the residual cavity and of subdiaphragmal and subhepatic spaces - 7 cases. Results: As a consequence of traditional surgical treatment in this study, the complications had a rate of 14,28% (suppuration of remaining cavity 3 cases, bile leakage -1 case, ultrasonically guided biliary fistula - 1 case). There have not been noted complications after ideal cystectomy. After laparoscopic surgery complications appeared in 18,18 % cases (suppuration of remaining cavity 1 case, bile leakage - 1 case). Conclusions: In case of liver hydatid cyst location in S VIIVIII traditional surgery is preferred, with or without drainage of the residual cavity. Superficial cyst location in S II-III and S V-VI is optimal for the use of the laparoscopic method

Analysis of microstructural effects in multi layer lithium ion battery cathodes

A possible way to increase the energy density in lithium-ion batteries, and, at the same time, reduce the production costs, is to use thicker electrodes. However, transport limitations can occur in thick electrodes, leading to a drawback in performance. A way to mitigate this problem is a more sophisticated microstructure of the electrode, using, e.g., structural gradients. This can, for instance, be achieved by multi-layer casting, i.e., casting and drying of a first layer, and then adding a second layer. An important question is how the interface between the two layers is shaped and how the corresponding microstructure influences the electrochemical performance. In the present paper, two different two-layer cathodes are analyzed and compared to single-layer cathodes of the same thickness. The analysis involved tomographic imaging, a statistical analysis of the 3D microstructure of the active material particle systems with a focus on the interface between the layers, and electrochemical characterization of the active material systems using experimental measurements as well as electrochemical simulations. The analysis showed that at the interface the connectivity of active material particles decreases, which results in higher electric resistivity. This effect is stronger if an intermediate calendering step is performed, i.e., the first layer is calendered before casting the second layer

Rolul oxidului nitric în boala de reflux gastroesofagian

Conferinţa naţională în medicina internă din Republica Moldova cu participare internaţională, 19-20 mai 2011, Chişinău, Republica MoldovaSummary. Nitric oxide is a simple heterodiatomic molecule, composed by an atom of Nitrogen and one of Oxygen, with multiple and various effects in human biology; an biologic mediator, which is involved in various pathological and pathophysiological processes. In GERD the NO participates in the esophagian dysmotility adjustment, could be appreciated as a marker of inflammatory process in esophagus; it plays an citopretective role.Oxidul de azot sau oxidul nitric (NO) este o moleculă simplă heterodiatomică recunoscută recent, formată dintr-un atom de oxigen şi un atom de azot, cu multiple şi variate efecte în biologia umană. Este unul dintre cei mai importanţi mediatori biologici, implicat în multiple procese fiziologice şi patofiziologice. Oxidul nitric este una dintre cele mai mici molecule din natură, cu masă moleculară egală cu 30 Daltoni, de aceea trece uşor prin membrana celulară. Durata de viaţă a oxidului nitric este scurtă: în ţesuturile biologice – până la 5- 6 sec, în sol. NaCl – de la 6 până la 30 sec. Un aspect intrigant al moleculei NO este posibilitatea sa de a media evenimentele fiziologice normale şi, în acelaşi timp, de a fi foarte toxic. În sistemele biologice oxidul nitric se formează din reacţia de transformare a aminoacidului L-argininei în L-citrulină în prezenţa oxigenului şi a NADPH, proces catalizat de sintezele oxidului nitric (NOS). Izoenzimele neuronală (nNOS) şi endotelială (eNOS) sunt constitutive, citoplazmatice, prezente în permanenţă în celule şi activitatea lor depinde direct de concentraţia intracelulară a ionilor de calciu şi calmodulină. Oxidul nitric sintetizat de iNOS participă la instalarea proceselor inflamatorii în diverse maladii ale canalului digestiv: colita ulcerohemoragică, boala Cron, gastrita de reflux, esofagita de reflux. Efectele oxidului nitric în sistemul digestiv: asigură activitatea motorie a tractului gastrointestinal, participă in transmiterea impulsurilor neuronali (nNOS), reglează tonusul vascular al sistemului digestiv (eNOS), posedă acţiune citoprotectoare. Boala de reflux gastroesofagian (BRGE) reprezintă o maladie cronică recidivantă, cauzată de mecanisme complexe de perturbare a motilităţii tractului digestiv superior, cu retropulsia conţinutului gastric sau intestinal în esofag. În esenţă, BRGE este o afecţiune motorie esofagiană, care apare în urma relaxării inadecvate a sfincterului esofagian inferior. În ultimele 2 decenii, cunoştinţele referite la BRGE au făcut un salt enorm. Patogenia BRGE este complicată. Este constatat faptul că incapacitatea SEI (scăderea presiunii bazale) şi relaxarea spontană a esofagului sunt determinate de nivelul oxidului nitric. În BRGE cantitatea de NO este crescută şi depinde de severitatea esofagitei. NO provoacă relaxarea spontană a esofagului în faza interdigestiei, influenţând complexul motor migrant. Inervaţia esofagului este complicată. De rând cu sistemele nervoase simpatic şi parasimpatic, au fost descoperiţi neuronii neadrenergici-necolinergici (NANC), mai târziu numiţi nitroxidergice. Relaxarea esofagului şi SEI este determinată de receptori NANC, în care rolul de mediator îl joacă oxidul nitric. Acesta este eliberat de neuronii speciali (NANC), localizaţi in plexul intramural, numiţi de tip Dogheli. Stimularea neuronilor măreşte sinteza oxidului nitric, care pătrunde în stratul muscular şi activează guanilatciclaza solubilă care, la rândul ei, activează sinteza guanidinmonofosfat ciclaza (cGMF). Creşterea nivelului de cGMF micşorează concentraţia ionilor de calciu în citoplazmă şi afectează legătura dintre actină şi miozină, astfel provocând relaxarea SEI. Concluzie. Oxidul nitric joacă un rol important în reglarea motricităţii esogastrice, participă in reglarea microcirculaţiei esofagiene, poate fi considerată ca marker al procesului inflamator din esofag

Water oxidation at hematite photoelectrodes: the role of surface states

Hematite (α-Fe2O3) constitutes one of the most promising semiconductor materials for the conversion of sunlight into chemical fuels by water splitting. Its inherent drawbacks related to the long penetration depth of light and poor charge carrier conductivity are being progressively overcome by employing nanostructuring strategies and improved catalysts. However, the physical–chemical mechanisms responsible for the photoelectrochemical performance of this material (J(V) response) are still poorly understood. In the present study we prepared thin film hematite electrodes by atomic layer deposition to study the photoelectrochemical properties of this material under water-splitting conditions. We employed impedance spectroscopy to determine the main steps involved in photocurrent production at different conditions of voltage, light intensity, and electrolyte pH. A general physical model is proposed, which includes the existence of a surface state at the semiconductor/liquid interface where holes accumulate. The strong correlation between the charging of this state with the charge transfer resistance and the photocurrent onset provides new evidence of the accumulation of holes in surface states at the semiconductor/electrolyte interface, which are responsible for water oxidation. The charging of this surface state under illumination is also related to the shift of the measured flat-band potential. These findings demonstrate the utility of impedance spectroscopy in investigations of hematite electrodes to provide key parameters of photoelectrodes with a relatively simple measurement

Postoperative outcomes in oesophagectomy with trainee involvement

BACKGROUND: The complexity of oesophageal surgery and the significant risk of morbidity necessitates that oesophagectomy is predominantly performed by a consultant surgeon, or a senior trainee under their supervision. The aim of this study was to determine the impact of trainee involvement in oesophagectomy on postoperative outcomes in an international multicentre setting. METHODS: Data from the multicentre Oesophago-Gastric Anastomosis Study Group (OGAA) cohort study were analysed, which comprised prospectively collected data from patients undergoing oesophagectomy for oesophageal cancer between April 2018 and December 2018. Procedures were grouped by the level of trainee involvement, and univariable and multivariable analyses were performed to compare patient outcomes across groups. RESULTS: Of 2232 oesophagectomies from 137 centres in 41 countries, trainees were involved in 29.1 per cent of them (n = 650), performing only the abdominal phase in 230, only the chest and/or neck phases in 130, and all phases in 315 procedures. For procedures with a chest anastomosis, those with trainee involvement had similar 90-day mortality, complication and reoperation rates to consultant-performed oesophagectomies (P = 0.451, P = 0.318, and P = 0.382, respectively), while anastomotic leak rates were significantly lower in the trainee groups (P = 0.030). Procedures with a neck anastomosis had equivalent complication, anastomotic leak, and reoperation rates (P = 0.150, P = 0.430, and P = 0.632, respectively) in trainee-involved versus consultant-performed oesophagectomies, with significantly lower 90-day mortality in the trainee groups (P = 0.005). CONCLUSION: Trainee involvement was not found to be associated with significantly inferior postoperative outcomes for selected patients undergoing oesophagectomy. The results support continued supervised trainee involvement in oesophageal cancer surgery