Скрининг дисфункций щитовидной железы у детей с синдромом Дауна. Наблюдение детей в условиях практики семейного врача

Department of Pediatrics, Research Institute for Maternal and Child Healthcare, Congresul III al Medicilor de Familie din Republica Moldova, 17–18 mai, 2012, Chişinău, Republica Moldova, Conferinţa Naţională „Maladii bronhoobstructive la copii”, consacrată profesorului universitar, doctor habilitat Victor Gheţeul, 27 aprilie, Chişinău, Republica MoldovaThyroid dysfunctions are detected significantly more frequently in children with Down syndrome (DS) compared to the group children with typical development. Our study conducted on a group of 52 children with DS aged 3 months – 3 years, beneficiaries of the Centre of Early Intervention “Voinicel” had shown an imbalance of thyroid hormones in the 36.5% of those surveyed, manifested by compensatory increased level of TSH in 89.4% of cases, and reduced levels of T3 and T4 – in 26.3% of children. The associated clinical signs frequently have been found: edemas in the cervical region and/or eyelids, dorsal parts of hands (42.8%), sweating (71.4%), sleep disturbances (57.1%), dry skin (50.0%), apathy (50.0%), clumsy, slow movements (64.2%), frequent infections (42.8%), low voice (35.7%). The correction of hypothyroidism by individually adjusted doses of L-Thyroxine has led to improvement in the clinical conditions of patients and the development of children. Based on the study results, an algorithm was proposed to monitor the children with DS in primary health care in order to identify hypothyroidism on the early stages and its correction to ensure a timely and optimal development of children with DS.Дисфункция щитовидной железы обнаруживается у детей с синдромом Дауна (СД) значительно чаще по сравнению с группой детей с типичным развитием. Наши исследования, проведенные на группе из 52 детей с СД в возрасте от 3 месяцев до 3 лет, посещающих Центр Раннего Вмешательства “Войничел”, выявили дисбаланс гормонов щитовидной железы у 36,5% исследованных, который проявлялся компенсаторным повышением уровня ТСГ в 89,4% случаев, снижением уровня Т3 и Т4 – в 26,3% случаев. Часто обнаруживались ассоциированные клинические признаки в виде отечности в области шеи и/или век, тыльной части рук (42,8%), потливость (71,4%), нарушение сна (57,1%), сухость кожи (50,0%), апатия (50,0%), неуклюжие, медленные движения (64,2%), предрасположенность к инфекциям (42,8%), низкий голос (35,7%). Коррекция гипотиреоза индивидуально регулированными дозами L-Тироксина привело к улучшению клинического состояния детей и к ускорению их развития. На основании результатов исследования был разработан алгоритм мониторинга детей с синдромом Дауна в условиях практики семейного врача с целью выявления гипотиреоза на ранней стадии и его коррекции в целях обеспечения оптимального развития детей с СД

Новые подходы при определении степени ограничения жизнедеятельности с использованием Международной Классификации Функционирования, ограничений жизнедеятельности и здоровья

Department of Economy, Management and Psychopedagogy in medicine, Department of Family Medicine, Nicolae Testemitanu State Medical and Pharmaceutical University, Congresul III al Medicilor de Familie din Republica Moldova 17–18 mai, 2012, Chişinău, Republica MoldovaIn the medical model, disability has predominantly been viewed as the consequence of disease or injury in the form of functional losses or impairments. The onus has been on the individual to make efforts to become ‘rehabilitated,’ restore their function, or to cope effectively with their disabling condition. The core characteristics of the so-called ‘social model of disability’ – in contrast to the other models stress on (a) how individuals views, experiences and priorities can be effectively recognized, and (b) how the outcome of medical support and intervention is not necessarily cure or symptom management, but social participation. Disability is human experience of impaired body function and structure activity limitation participation restriction in the interaction with health conditions, personal and environmental factors. ICF provides an international common language and universal conceptual framework for describing functioning, disability and health, comprehensive, biological-psychological-social model of disability and health, consisting from medical and social aspects. Медицинская модель рассматривает “инвалидность” как свойство, присущее человеку в результате болезни, травмы или иного воздействия на состояние здоровья, которое требует медицинской помощи в виде непосредственного лечения у специалистов. Инвалидность по этой модели требует медицинского или иного вмешательства или лечения с тем, чтобы «исправить» проблему человека. Социальная модель рассматривает инвалидность как социальную проблему, а не как свойство человека. Согласно социальной модели, инвалидность требует социального вмешательства, так как проблема возникает из-за неприспособленности окружающей среды, вызываемой отношением и другими свойствами социального окружения. Инвалидность всегда представляет собой взаимодействие между свойствами человека и свойствами окружения, в котором этот человек проживает, но некоторые аспекты инвалидности являются полностью внутренними для человека, другие же, наоборот, только внешними. Наилучшая модель инвалидности, таким образом, будет представлять собой синтез всего лучшего из медицинской и социальной моделей. Такая более выгодная модель инвалидности может называться биопсихосоциальной моделью. МКФ основывается на такой модели, совмещающей медицинский и социальный аспекты

Classification of cancer cell lines using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry and statistical analysis

Over the past decade, matrix-assisted laser desorption/ionization time‑of‑flight mass spectrometry (MALDI‑TOF MS) has been established as a valuable platform for microbial identification, and it is also frequently applied in biology and clinical studies to identify new markers expressed in pathological conditions. The aim of the present study was to assess the potential of using this approach for the classification of cancer cell lines as a quantifiable method for the proteomic profiling of cellular organelles. Intact protein extracts isolated from different tumor cell lines (human and murine) were analyzed using MALDI‑TOF MS and the obtained mass lists were processed using principle component analysis (PCA) within Bruker Biotyper® software. Furthermore, reference spectra were created for each cell line and were used for classification. Based on the intact protein profiles, we were able to differentiate and classify six cancer cell lines: two murine melanoma (B16‑F0 and B164A5), one human melanoma (A375), two human breast carcinoma (MCF7 and MDA‑MB‑231) and one human liver carcinoma (HepG2). The cell lines were classified according to cancer type and the species they originated from, as well as by their metastatic potential, offering the possibility to differentiate non‑invasive from invasive cells. The obtained results pave the way for developing a broad‑based strategy for the identification and classification of cancer cell

Развитиe преподавания семейной медицины в университетских программах

Department of Family Medicine, Nicolae Testemitanu State Medical and Pharmaceutical University, Congresul III al Medicilor de Familie din Republica Moldova, 17–18 mai, 2012, Chişinău, Republica Moldova, Conferinţa Naţională „Maladii bronhoobstructive la copii”, consacrată profesorului universitar, doctor habilitat Victor Gheţeul, 27 aprilie, Chişinău, Republica MoldovaIntroducere. Tendinţele actuale ale Strategiei naţionale de modernizare a Sistemului Ocrotirii Sănătăţii din Republică prevăd dezvoltarea continuă a sectorului de asistenţă medicală primară în baza specialităţii Medicina de familie. Una din priorităţile fundamentale ale întregii ţări este integrarea europeană. Instruirea universitară în Medicina de familie a fost iniţiată în anul universitar 2007-2008 pentru studenţii anului VI, Facultatea de Medicină. Reactualizarea a demarat în 2009 şi a intrat în vigoare din ianuarie 2010. Astfel, programele educaţionale în domeniul medicinii de familie la etapa universitară şi postuniversitară trebuie să fie concordate cu cerinţele europene şi internaţionale. Ţinând cont de specificul şi variabilitatea regională a asistenţei medicale primare pentru ţările din Europa, autorii programului s-au condus de Agenda Educaţională EURACT, urmând competenţele de bază pentru instruire. Material şi metode Modificarea curriculei universitare la disciplina Medicina de familie a fost realizată după expertizarea ei de către colaboratorii catedrei Medicină de Familie a USMF „Nicolae Testemiţanu” împreună cu echipa de experţi-consultanţi în reforme educaţionale din România în cadrul proiectului „Îmbunătăţirea Conţinutului Cursurilor de Educaţie a Medicilor de Familie, Managerilor Instituţiilor de Medicina Primară şi a Asistenţilor Medicilor de Familie din Republica Moldova”, realizat de Programul de Servicii de Sănătate şi Asistenţă Socială prin intermediul Centrului pentru Politici şi Servicii de Sănătate din Bucureşti, România. Rezultate Astfel, pe parcursul anului 2009 au fost revizuite: Programul de instruire universitar la disciplina Medicină de familie pentru studenţii anului V, facultatea Medicină, şi anului VI, facultatea Sănătate Publică; Programul de instruire prin rezidenţiat pentru toţi trei ani, la Specializarea Medicină de familie; 3 module din cadrul programului de Educaţie Medicală Continuă pentru medicii de familie. Toate aceste programe au fost recenzate şi aprobate în cadrul şedinţei catedrei Medicină de familie, şedinţei Comisiei Metodice de Profil Boli interne, şedinţei Consiliului Metodic Central al USMF “Nicolae Testemiţanu” şi de către Ministrul Sănătăţii din Republica Moldova. În cadrul revizuirii curriculum-ului universitar s-a urmărit scopul de a adapta programul de instruire la cerinţele educaţionale europene. Obiectivele le-au constituit: formarea conceptului despre specialitatea Medicină de familie şi familiarizarea cu particularităţile activităţii medicului de familie. A fost redusă ponderea orelor teoretice în favoarea practicii în oficiul medicului de familie, solicitat de către studenţii instruiţi în anii precedenţi. Astfel, durata cursului a crescut de la 10 la 15 zile, raportul teorie/practică de la 30% şi 70% în anul 2007 la 10% şi 90% respectiv în anul 2011. Metodele moderne interactive de predare au fost alese pentru aplicare în cadrul programului: prelegere interactivă, lecţie practică cu utilizarea studiului de caz, jocuri pe roluri, lucru în grupuri mici, lucru individual, discuţie plenară, observare clinică, completarea documentaţiei medicale. Metodele de evaluare au fost divizate în două modalităţi: curentă şi finală. Anul de studii 2010-2011 a fost marcat de trecerea instruirii studenţilor în domeniul medicinii de familie de la anul VI la anul V de studii. De la începutul implementării programului universitar au fost instruiţi în total 2203 studenţi, dintre care 909 studenţi – conform curriculum-ului revizuit şi adaptat. Concluzii În cadrul revizuirii programului de studii universitar a fost atins scopul de a ajusta curriculum-ul existent la cerinţele Agendei Educaţionale EURACT. Este necesară revizuirea sistematică a programului de studii universitar, cel puţin o dată la 5 ani pentru menţinerea conţinutului acestora la nivelul practicilor contemporane internaţionale şi implementării metodelor eficiente de instruire a competenţelor profesionale în specialitate

First array of enriched Zn82^{82}Se bolometers to search for double beta decay

The R&D activity performed during the last years proved the potential of ZnSe scintillating bolometers to the search for neutrino-less double beta decay, motivating the realization of the first large-mass experiment based on this technology: CUPID-0. The isotopic enrichment in $^{82}$Se, the Zn$^{82}$Se crystals growth, as well as the light detectors production have been accomplished, and the experiment is now in construction at Laboratori Nazionali del Gran Sasso (Italy). In this paper we present the results obtained testing the first three Zn$^{82}$Se crystals operated as scintillating bolometers, and we prove that their performance in terms of energy resolution, background rejection capability and intrinsic radio-purity complies with the requirements of CUPID-0

CUPID-0: the first array of enriched scintillating bolometers for 0decay investigations

The CUPID-0 detector hosted at the Laboratori Nazionali del Gran Sasso, Italy, is the first large array of enriched scintillating cryogenic detectors for the investigation of82Se neutrinoless double-beta decay (0). CUPID-0 aims at measuring a background index in the region of interest (RoI) for 0at the level of 10- 3 counts/(keV kg years), the lowest value ever measured using cryogenic detectors. CUPID-0 operates an array of Zn82Se scintillating bolometers coupled with bolometric light detectors, with a state of the art technology for background suppression and thorough protocols and procedures for the detector preparation and construction. In this paper, the different phases of the detector design and construction will be presented, from the material selection (for the absorber production) to the new and innovative detector structure. The successful construction of the detector lead to promising preliminary detector performance which is discussed here

Simulation-based design study for the passive shielding of the COSINUS dark matter experiment

The COSINUS (Cryogenic Observatory for SIgnatures seen in Next-generation Underground Searches) experiment aims at the detection of dark matter-induced recoils in sodium iodide (NaI) crystals operated as scintillating cryogenic calorimeters. The detection of both scintillation light and phonons allows performing an event-by-event signal to background discrimination, thus enhancing the sensitivity of the experiment. The construction of the experimental facility is foreseen to start by 2021 at the INFN Gran Sasso National Laboratory (LNGS) in Italy. It consists of a cryostat housing the target crystals shielded from the external radioactivity by a water tank acting, at the same time, as an active veto against cosmic ray-induced events. Taking into account both environmental radioactivity and intrinsic contamination of materials used for cryostat, shielding and infrastructure, we performed a careful background budget estimation. The goal is to evaluate the number of events that could mimic or interfere with signal detection while optimising the geometry of the experimental setup. In this paper we present the results of the detailed Monte Carlo simulations we performed, together with the final design of the setup that minimises the residual amount of background particles reaching the detector volume.Comment: 12 pages, 7 figure

Deleterious Heteroplasmic Mitochondrial Mutations are associated With an increased Risk of Overall and Cancer-Specific Mortality

Mitochondria carry their own circular genome and disruption of the mitochondrial genome is associated with various aging-related diseases. Unlike the nuclear genome, mitochondrial DNA (mtDNA) can be present at 1000 s to 10,000 s copies in somatic cells and variants may exist in a state of heteroplasmy, where only a fraction of the DNA molecules harbors a particular variant. We quantify mtDNA heteroplasmy in 194,871 participants in the UK Biobank and find that heteroplasmy is associated with a 1.5-fold increased risk of all-cause mortality. Additionally, we functionally characterize mtDNA single nucleotide variants (SNVs) using a constraint-based score, mitochondrial local constraint score sum (MSS) and find it associated with all-cause mortality, and with the prevalence and incidence of cancer and cancer-related mortality, particularly leukemia. These results indicate that mitochondria may have a functional role in certain cancers, and mitochondrial heteroplasmic SNVs may serve as a prognostic marker for cancer, especially for leukemia

First search for Lorentz violation in double beta decay with scintillating calorimeters

We present the search for Lorentz violation in the double beta decay of Se-82 with CUPID-0, using an exposure of 9.95 kg x yr. We found no evidence for the searched signal and set a limit on the isotropic components of the Lorentz violating coefficient of (a) over circle ((3))(of) ((3))(of) obtained with a scintillating bolometer, showing the potentiality of this technique

Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination

Background and purpose Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi‐allelic mutations in NKX6‐2 were recently linked to spastic ataxia 8 with hypomyelinating leukodystrophy. Methods Using a combination of homozygosity mapping, exome sequencing, and detailed clinical and neuroimaging assessment a series of new NKX6‐2 mutations in a multicentre setting is described. Then, all reported NKX6‐2 mutations and those identified in this study were combined and an in‐depth analysis of NKX6‐2‐related disease spectrum was provided. Results Eleven new cases from eight families of different ethnic backgrounds carrying compound heterozygous and homozygous pathogenic variants in NKX6‐2 were identified, evidencing a high NKX6‐2 mutation burden in the hypomyelinating leukodystrophy disease spectrum. Our data reveal a phenotype spectrum with neonatal onset, global psychomotor delay and worse prognosis at the severe end and a childhood onset with mainly motor phenotype at the milder end. The phenotypic and neuroimaging expression in NKX6‐2 is described and it is shown that phenotypes with epilepsy in the absence of overt hypomyelination and diffuse hypomyelination without seizures can occur. Conclusions NKX6‐2 mutations should be considered in patients with autosomal recessive, very early onset of nystagmus, cerebellar ataxia with hypotonia that rapidly progresses to spasticity, particularly when associated with neuroimaging signs of hypomyelination. Therefore, it is recommended that NXK6‐2 should be included in hypomyelinating leukodystrophy and spastic ataxia diagnostic panels