70 research outputs found
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
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