Romanian Review of Laboratory Medicine最新文献

{"title":"A case of fatal acute intermittent porphyria: laboratory diagnosis and pathogenesis considerations / Un caz fatal de porfirie acută intermitentă: diagnostic de laborator şi consideraţii patogenice","authors":"R. Bălaşa, S. Maier, Anca Moţăţăianu, Z. Bajko, O. Moldovan, E. Benedek","doi":"10.2478/rrlm-2014-0033","DOIUrl":"https://doi.org/10.2478/rrlm-2014-0033","url":null,"abstract":"Abstract Acute intermittent porphyria (AIP) is a metabolic disease with an autosomal dominant inheritance, with porphobilinogen (PBG) deaminase as the deficient enzyme in heme biosynthetic pathway at cytosolic subcellular locations. This diagnosis must be evoked in all adults with unexplained symptoms, but some clinical features are suggestive: women with reproductive age; abdominal pain; muscle weakness; sever and prolonged hyponatremia; dark or reddish urine. The authors present a fatal case of a 39-years old female who presented acute abdominal pain followed by severe peripheral nervous system lesions with tetraplegia. Urine analysis showed enormously increased levels of porphirins, PBG and Δ aminolevulinic acid. The diagnosis of AIP was established and even if the correct treatment (Hemine, glucose) was administrated, the patient died after 3 weeks from onset due to a septic shock. The authors discuss the laboratory abnormalities that are found in AIP and also the pathogenesis of the acute attack of AIP as well as the mechanism of severe nervous system damage that is less understood. In conclusion, laboratory testing must be performed early and if a diagnose of AIP is not made promptly serious consequences may follow for the patient. Rezumat Porfiria acută intermitentă (PAI) este o boală metabolică, cu transmitere autosomal dominantă, cu alterarea căii de biosinteză a hemului prin deficitul enzimei porphobilinogen (PBG) dezaminaza. Acest diagnostic trebuie să fie evocate în toate cazurile de adultii care prezintă simptome inexplicabile, dar cu unele caracteristici clinice sugestive: femei cu vârstă reproductivă, dureri abdominale, slăbiciune musculară, hiponatremie prelungită şi severă, urină închisă la culoare sau roşie. Autorii prezinta un caz fatal de PAI la o femeie de 39 de ani, care a prezentat dureri abdominale acute, urmate de leziuni severe ale sistemului nervos periferic cu tetraplegie. Analiza urinei a arătat nivelurile de porfirine, PBG şi de acid aminolevulinic Δ crescute enorm. Diagnosticul de PAI a fost stabilit şi, chiar dacă tratamentul corect (heminei, glucoza ) a fost administrat, pacienta a decedat după trei săptămâni de la debut prin şoc toxico-septic. Autorii discuta despre diagnosticul de laborator din PAI şi, de asemenea, patogeneza atacului acut de PAI, precum şi mecanismul de producere a leziunilor severe ale sistemului nervos, care este mai puţin înţeles. În concluzie, testele de laborator trebuie efectuate cât mai precoce deoarece neglijarea unui diagnostic de PAI poate avea consecinţe grave pentru pacienţi.","PeriodicalId":288498,"journal":{"name":"Romanian Review of Laboratory Medicine","volume":"57 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114065075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The neuroendocrine markers assay and the glycemia profile in patients with neuroendocrine tumors under octreotide therapy: a 2 years study / Determinarea markerilor neuroendocrini şi a profilului glicemic la pacienţii cu tumori neuroendocrine în tratament cu octreotid","authors":"C. Poiană, D. Păun, M. Carsote","doi":"10.2478/rrlm-2014-0030","DOIUrl":"https://doi.org/10.2478/rrlm-2014-0030","url":null,"abstract":"Abstract The neuroendocrine tumors (NETs) are more frequent during the last decades. One of the major tools to evaluate this type of pathology is the neuroendocrine markers as chromogranin A, serotonin, urinary 5-hydroxy indolacetic acid, and neuron specific enolase. They change related to the disease progression, regardless therapy. Some of the drugs that are used for NETs as somatostatin analogs (for example octreotide) might interfere with glucose metabolism. Objectives. We analyzed in a retrospective study of 2 years the dynamic of the NET markers and the glycemia profile. Material and Methods. All the patients had at least one assay per year. Results. 9 patients were included (5 women and 4 men), with a mean age of 57.33 years. They were treated before the study with octreotide for 18 +/- 14.69 months. The dose of octreotide varied from 20 to 50 mg, monthly. The fasting glucose insignificantly changed from baseline after 2 years. No new case of diabetes was registered. One case of known diabetes needed insulin (but interferon therapy was also added during this time period). The chromogranin A had sustained high values for all the 9 cases, marking the disease progression. The neuron specific enolase significantly increased, and the serum serotonin as well as the 5HIIA was much higher in 2 cases with aggressive carcinoid symptoms. Conclusion. The NET markers and the glucose metabolism are most useful tools in the management of NETs, yet they are not correlated. Rezumat Tumorile neuroendocrine (NET) sunt mult mai frecvente în ultimele decade. Unul din intrumentele majore de evaluare în această patologie este reprezentat de dozarea markerilor neuroendocrini precum cromogranina A, serotonina, acidul 5-hidroxi indolacetic urinar şi enolaza neuronal specifică. Aceştia se schimbă cu progresia tumorală, indiferent de terapie. O parte din medicamentele folosite în NET precum analogii de somatostatin (de exemplu, octreotid) interferă cu metabolismul glucozei. Obiectiv. Am analizat într-un studiu retrospectiv de-a lungul a 2 ani dinamica markerilor NET şi profilul glicemic. Material si metode.Toţi pacienţii au avut cel puţin o evaluare pe an. Rezultate. 9 pacienţi au fost incluşi (5 femei şi 4 bărbaţi), cu o vârstă medie de 57,33 de ani. Perioada de tratament anterior cu octreotid a fost de 18 +/- 14,69 de luni. Doza de octreotid a variat de la 20 la 50 mg lunar. Glicemia s-a modificat nesemnificativ de la bază după 2 ani. Nu s-a înregistrat nici un caz nou de diabet. O pacientă a necesitat insulină pentru diabetul preexistent (dar între timp s-a adaugat şi terapie cu interferon) Cromogranina A a avut valori mari sustinute pentru toate cele 9 cazuri, sugerând progresia bolii. Enolaza neuronal specifică a crescut semnificativ iar serotonina serică şi 5HIIA au crescut considerabil în 2 cazuri cu simptome severe de sindrom carcinoid. Concluzie. Markerii NET şi metabolismul glucidic sunt instrumente foarte utile in managementul tumorilor neuroendocrine, tot","PeriodicalId":288498,"journal":{"name":"Romanian Review of Laboratory Medicine","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125211626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genotype-phenotype correlations in patients treated with acenocoumarol / Corelaţii genotip-fenotip la pacienţii trataţi cu acenocumarol","authors":"F. C. Militaru, Ș. Vesa, S. Criṣan, V. Militaru, A. Trifa, A. Buzoianu","doi":"10.2478/rrlm-2014-0032","DOIUrl":"https://doi.org/10.2478/rrlm-2014-0032","url":null,"abstract":"Abstract Aim: This research aims to establish a genotype-phenotype correlation in patients treated with acenocoumarol and studies the genetic factors (VKORC1 and CYP2C9 polymorphisms) that may influence INR values during initiation of oral anticoagulant therapy with acenocoumarol. Material and methods: We included 131 patients that needed treatment with acenocoumarol, 70 (53.4%) women and 61 (46.6%) men, observed at the 5th Medical Clinic in Cluj-Napoca, between 2009-2011. We studied the influence of age, gender, concomitant medication and of CYP2C9 and VKORC1 genes on the INR value recorded on the third day of treatment and on the difference between this value and the initial INR value at the starting point for the treatment (INRDIF). Results and conclusion: We demonstrated a statistically significant difference for INR3 and INRDIF values in patients with AA genotype and those with GG genotype of the c.-1639G>A polymorphism of the VKORC1 gene. The presence of AA genotype of the c.-1639G>A polymorphism of the VKORC1 gene determined a 15.7-fold increase in the risk that a patient might display supratherapeutic INR after 2 days of treatment with 4 mg of acenocoumarol Rezumat Scop: Această cercetare are drept scop stabilirea unei corelaţii genotip-fenotip la pacienţii trataţi cu acenocumarol şi studierea factoriilor genetici (polimorfismele VKORC1 şi CYP2C9), care ar putea influenţa valorile INR în timpul iniţierii terapiei anticoagulante orale cu acenocumarol. Material şi metode: Am inclus 131 de pacienţi care necesitau tratament cu acenocumarol, 70 (53,4%) femei şi 61 (46,6%) bărbaţi, internaţi în Clinica Medicala 5 din Cluj-Napoca, între 2009-2011. Am studiat influenţa vârstei, sexului, medicaţiei concomitente şi a genelor CYP2C9 şi VKORC1 asupra valorii INR măsurate în ziua a treia de tratament şi asupra diferenţei dintre această valoare şi valoarea INR măsurată la debutul tratamentului (INRDIF). Rezultate şi concluzii: Am demonstrat o diferenţă semnificativă statistic pentru INR3 şi valorile INRDIF la pacienţii cu genotip AA şi cei cu genotip GG ai polimorfismului c.- 1639G>A al genei VKORC1. Prezenţa genotipului AA al polimorfismului c.- 1639G>A al genei VKORC1 a determinat o creştere de 15,7 ori a riscului ca un pacient să prezinte INR supraterapeutic după 2 zile de tratament cu 4 mg de acenocumarol.","PeriodicalId":288498,"journal":{"name":"Romanian Review of Laboratory Medicine","volume":"51 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114470022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease /Hipouricemia - cheia către diagnosticul unui caz de deficit de purin nucleozid fosforilază, o boală rară si severă","authors":"Alexis-Virgil Cochino, Jean-Louis Pérignon, Mihaela Bătăneanţ, Mihai Craiu, Ioan Gherghina, M. Șerban","doi":"10.2478/rrlm-2014-0027","DOIUrl":"https://doi.org/10.2478/rrlm-2014-0027","url":null,"abstract":"Abstract We describe the case of a 15 month old boy, investigated for repeated and prolonged infections, associated to progressive neurological impairment. Immunological work-up found low immunoglobulin levels and decreased numbers of T and B lymphocytes, with a T-B-NK+ phenotype. Imaging showed lack of thymus and cerebral cortex atrophy. The key towards the diagnosis was plasma uric acid determination: hypouricemia suggested purine nucleoside phosphorylase deficiency, a very rare disease, with only 67 reported cases worldwide. Diagnosis was confirmed by enzyme activity measured using a radioisotopic method. Rezumat Este descris cazul unui pacient în vârstă de 15 luni, internat pentru infecţii repetate şi prelungite, asociate cu afectare neurologică progresivă. Evaluarea imunologică a detectat nivele serice scăzute ale imunoglobulinelor şi populaţii de limfocite T şi B reduse, cu un fenotip T-B-NK+. Imagistica a arătat lipsa timusului şi atrofie corticală cerebrală. Elementul cheie care a orientat diagnosticul a fost determinarea acidului uric seric: hipouricemia a sugerat deficit de purin nucleozid fosforilază, o boală foarte rară, cu doar 67 de cazuri raportate la nivel mondial. Diagnosticul a fost confirmat de măsurarea activităţii enzimatice printr-o metodă radioizotopică.","PeriodicalId":288498,"journal":{"name":"Romanian Review of Laboratory Medicine","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133605097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Determination of the phosphorylated neurofilament subunit NF-H (pNF-H) in cerebro-spinal fluid as biomarker in acute traumatic spinal cord injuries / Dozarea neurofilamentelor fosforilate (subunitatea pNF-H) ȋn LCR ca biomarker ȋn traumatismul vertebro-medular acut","authors":"D. Ungureanu, Ș. Iencean, C. Dimitriu, A. S. Iencean, A. Taşcu","doi":"10.2478/rrlm-2014-0029","DOIUrl":"https://doi.org/10.2478/rrlm-2014-0029","url":null,"abstract":"Abstract Study objective. The objective of this study was to measure the phosphorylated neurofilament subunit NF-H (pNF-H) in cerebro-spinal fluid of patients with spinal cord injury and to determine the correlation between the pNF-H levels and the severity of the injury. Materials and methods. The study included 15 subjects with acute traumatic spinal cord injury: eight patients with complete spinal cord injury (SCI) and seven patients with incomplete SCI. All patients were classified according to the American Spinal Injury Association impairment scale (ASIA) and all patients underwent surgery during the first 24 hours (decompression, stabilization). We measured daily the heavy phosphorylated neurofilament subunit (pNF-H) concentration by sandwich ELISA test in CSF in all patients and we correlated the values of pNF-H with the clinical evolution. Results. For all patients with SCI pNF-H was detectable in CSF samples and the values were different in the cases of complete SCI toward the cases of incomplete SCI and the cerebro-spinal pNF-H level was more elevated in cases of complete SCI. The level of CSF pNF-H was ten to a hundred times higher in complete SCI than the level of CSF pNF-H in cases with incomplete SCI, where the level of this biomarker was close to normal. The patients with a favorable neurological evolution after treatment had a specific pattern of daily values of pNF-H: a sudden increase up to a maximum value then a progressive decrease until normal. The maximum values were different in each case, from 10 times up to 170 times higher than the normal. Conclusion. The phosphorylated form of the high-molecular-weight neurofilament subunit NF-H (pNF-H) in cerebro-spinal fluid can be a specific biomarker for spinal cord injury and it can distinguish the severity of SCI. pNF-H is a predictive biomarker because of its values pattern can show the reducing or stopping of the secondary lesion and the favorable result. Rezumat Obiectivul studiului. Obiectivul acestui studiu a fost dozarea neurofilamentelor fosforilate (subunitatea pNF-H) în lichidul cefalorahidian al pacienţilor cu leziuni traumatice ale măduvei spinării şi stabilirea unei corelaţii intre valoarea pNF-H şi gravitatea leziunilor medulare. Material şi metode. Studiul a inclus 15 pacienţi cu leziuni traumatice acute medulare: opt pacienţi cu leziuni medulare complete şi şapte pacienţi cu leziuni medulare incomplete. Gravitatea leziunilor medulare a fost apreciată folosind scala ASIA (American Spinal Injury Association scale) şi la toti pacientii s-a aplicat tratamentul chirurgical în primele 24 de ore (decompresiune medulară şi stabilizare vertebrală). S-a facut determinarea zilnică a pNF-H din LCR folosind testul ELISA specific şi am corelat aceste valori cu evoluţia clinică. Rezultate. Subunitatea pNF-H a fost evidenţiată în LCR la toţi pacienţii cu traumatisme acute vertebro-medulare şi valorile au fost diferite în cazurile leziunilor medulare complete faţa de leziunile incom","PeriodicalId":288498,"journal":{"name":"Romanian Review of Laboratory Medicine","volume":"90 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116669340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detection of the genetically modified organisms from food products/ Detecţia organismelor modificate genetic din produse alimentare","authors":"Manuela Curticăpean, A. Curticapean","doi":"10.2478/rrlm-2014-0026","DOIUrl":"https://doi.org/10.2478/rrlm-2014-0026","url":null,"abstract":"Abstract Since the release of the first genetically modified crop, scientists have pro and con opinion on cultivation and their use, because of potential health, and environmental risks. Current EU legislation (Directive 2003/18/EC) provides for public information, monitoring long-term effects, labelling and traceability at all stages of the placing on the market of GMOs. The aim of this study was to evaluate the quality of the food products on the market, in which the detection of presence / absence of GMO. In this regard, two types of maize flour and four types of soy products were analysed during 2013. The kit used for detection of the presence / absence of GMO in the samples tested, comprising the step of DNA extraction, DNA amplification by PCR and agarose gel electrophoresis of amplified products and uses two GM associated sequences - promoter 35S and NOS terminator from Agrobacterium tumefaciens. The presence of GMO was found in a corn sample, also in a soy sample the results illustrate the need for further analysis to identify the exact type and quantity of GMO (the limiting value imposed by European legislation being 0.9% at ingredient). Rezumat Încă de la apariţia primelor culturi modificate genetic, oamenii de ştiinţă au avut păreri pro şi contra asupra cultivării si utilizării lor, datorită potenţialelor riscuri pe care le pot avea asupra sănătăţii şi mediului înconjurător. Legislaţia europeană actuală (Directiva 2003/18/CE) prevede obligativitatea informării publicului, a monitorizării efectelor pe termen lung, a etichetării şi trasabilităţii în toate stadiile introducerii pe piaţă a OMG. Scopul acestui studiu a fost evaluarea calitativă a produselor alimentare existente pe piaţă, în ceea ce priveşte detecţia prezenţei/ absenţei OMG. În acest sens au fost analizate două tipuri de făină de porumb şi patru tipuri de produse din soia, în perioada 2013. Kit-ul utilizat pentru detecţia prezenţei/absenţei OMG în probele testate, cuprinde etape de izolare ADN, amplificare ADN prin PCR şi electroforeza în gel de agaroză a produşilor amplificaţi şi foloseşte două secvenţe asociate OMG - promotorul 35S şi terminatorul NOS de la Agrobacterium tumefaciens. În urma studiului, au fost pozitive în ceea ce priveşte prezenţa OMG, o probă de mălai extra şi o probă de soia. Rezultatele obţinute ilustrează necesitatea efectuării de analize suplimentare pentru identificarea tipului exact de OMG şi pentru stabilirea cantităţii de OMG (pragul limită impus de legislaţia europeană fiind de 0,9% la nivel de ingredient).","PeriodicalId":288498,"journal":{"name":"Romanian Review of Laboratory Medicine","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129385889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A glance on recent progresses in diagnosis and treatment of primary immunodeficiencies/ Progrese recente în diagnosticul şi tratamentul imunodeficienţelor primare","authors":"P. Späth","doi":"10.2478/rrlm-2014-0034","DOIUrl":"https://doi.org/10.2478/rrlm-2014-0034","url":null,"abstract":"Abstract Primary immunodeficiencies (PIDs)* belong to the group of rare diseases which need more awareness by the relevant medical disciplines. Below a review on recent progresses in diagnosis and treatment of PIDs is given. Reducing the regrettable delay in diagnosis of PIDs (worldwide) is possible only when awareness is increased by doctors who may encounter patients with PID. This review shall serve this purpose. Progresses in understanding what the link might be between one genetic defect presenting in various phenotypes or how various gene defects may manifest by very similar PID phenotypes helps building awareness. Knowledge of PID favours early diagnosis, a cornerstone of optimal, sometimes life-long care at justifiable costs. The complexity of PIDs calls for clinical laboratory and clinical diagnostic performed by experts only. Exciting laboratory diagnostic progresses in early diagnosis of the most severe forms of PID are reviewed below. Progresses in curative therapies for PIDs, such as hematopoietic stem cell transplantation and gene therapies, are mentioned in short. About 80% of PID patients suffer from an antibody deficiency syndrome and can profit from non-curative replacement therapies with human immunoglobulin G concentrates. Modes of application, safety and hints for dosing of replacement therapies to reduce frequencies of severe infections are mentioned below. Thanks to the increasing quality of care, patients survive adolescence. A glance is given on the problems of transition to the adult medicine setting.","PeriodicalId":288498,"journal":{"name":"Romanian Review of Laboratory Medicine","volume":"51 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121547180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimisation of the quantitative analysis of inflammatory cell infiltrates in breast cancer /Optimizarea analizei cantitative a infiltratului celular inflamator în cancerul mamar","authors":"A. Vrânceanu, Cristina Claudia Tărniceriu, Daniela Jitaru, Cristina Terinte, Florin Zugun-Eloae, E. Carasevici","doi":"10.2478/rrlm-2014-0035","DOIUrl":"https://doi.org/10.2478/rrlm-2014-0035","url":null,"abstract":"Abstract In this study we aimed to determine the optimal cut-off point for the quantitative analysis of inflammatory infiltrates in breast cancer, using the HistoQuest system. We used samples of tumour breast tissue which were IHC stained with CD68 and CD8 and subsequently tested with automated systems on three regions: intratumoral, invasive front and peritumoral, using the HistoQuest system. In order to delimit between positive and negative cells on histograms and scattergrams, we need to set a cut-off value. We compared 5 cut-off types for optimisation of the quantitative analysis. The results obtained statistically for the CD8 marker for all 5 types of cut-offs applied on IT, PT and IF regions did not show statistically significant differences (p > 0.05). As for the CD68 marker, we found statistically significant differences (p < 0.05) between manual cut-offs (C2 - manual and C3 - manual, arithmetic mean) and automated cut-offs placed by the software (C1 - automated, C4 - negative region, and C5 - automated, arithmetic mean), which suggests that the use of an automated cut-off should be preferred in order to remove the subjective factor. The automated cut-off setting generates objective and reproducible data and can be used in subsequent quantitative analyses. Rezumat În acest studiu am analizat modalitatea optimă de poziţionare a cut off-ului în cadrul analizei cantitative a infiltratului inflamator în cancerul mamar cu ajutorul sistemului HistoQuest. Am utilizat specimene de ţesut mamar tumoral, care au fost marcate imunohistochimic cu markerii CD68 (pentru macrofage) şi CD8 (pentru limfocitul T citotoxic) şi ulterior analizate automat pe regiunile IT (intratumoral), PT (peritumoral) şi FI (front de invazie) cu ajutorul sistemului soft HistoQuest. Pentru evidenţierea populaţiei de celule pozitive pe histograme şi scatergrame, este necesară poziţionarea cut off-ului (discriminator). Pentru optimizarea tehnicii, am comparat 5 modalităţi de poziţionare a cut off-ului. Rezultatele obţinute statistic pentru markerul CD8 pentru toate cele 5 tipuri de cutoff aplicate pe regiunile IT, PT şi FI nu au înregistrat diferenţe semnificative statistic (p < 0,05). Pentru markerul CD68 s-au înregistrat diferenţe semnificative statistic (p<0,05) între cut off-urile alese pe criterii manuale (cut off-ul C2-manual şi cut off -ul C3-medie manual) versus cut off-urile stabilite pe criterii ce ţin de soft (cut off-ul C1-automat, cut off-ul C4-regiune negativă şi cut off-ul C5-medie automat), utilizarea cutoff-ului automat fiind preferat pentru a îndepărta factorul subiectiv. Utilizarea modalităţii de poziţionare automată a cut off-ului generează date obiective şi reproductibile şi poate fi utilizat în analize cantitative ulterioare","PeriodicalId":288498,"journal":{"name":"Romanian Review of Laboratory Medicine","volume":"50 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"120851268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parathyroidectomy in the treatment of secondary hyperparathyroidism. Clinical and laboratory outcomes/ Paratiroidectomia în tratamentul hiperparatiroidismului secundar. Aspecte clinice şi de laborator","authors":"R. Neagoe, D. Sala, I. Pașcanu, S. Voidăzan, R. Moldovanu","doi":"10.2478/rrlm-2014-0028","DOIUrl":"https://doi.org/10.2478/rrlm-2014-0028","url":null,"abstract":"Abstract Background. Secondary hyperparathyroidism (sHPT) is frequently encountered in patients on hemodialysis (HD) for end stage renal disease (ESRD). In spite of improved medical therapy, parathyroidectomy is still frequentely indicated for patients with medically refractory secondary and tertiary hyperparathyroidism. The aim of this study is to analyse the impact of parathyroidectomy, regardless of the surgical procedure, on perioperative and follow-up clinical symptoms and biochemistry tests. Material and method. We studied 29 patients who underwent parathyroidectomy for sHPT due to ESRD, at the Second Department of Surgery, Emergency Mures County Hospital, between February 2010 and May 2013. Outcome parameters included symptoms relieving (bone pains, pruritus, etc) and laboratory data (intact parathyroid hormone (iPth), total calcium and phosphorus, serum alkaline phosphatase (AlkPhos), hematocrit and hemoglobin), assesed before, shortly after and then at short-medium term follow-up. Results. The majority of our patients had significant improvement of the symptoms during the follow-up period. The iPTH values considerably decreased after the operation. The postoperative calcemia mean value decreased and we have identified statistically significant differences between the monthly calcemia average values (p-0.008). The mean phosphorus level in the first 2 postoperative months decreased significantly (p-0.001) and we recorded statistically significant decreases (p-0.0007) in AlkPhos level after the operation. Both hematocit and hemoglobin levels experienced a statistical significant growth in the follow-up period. Persistent HPT was encountered in two patients (6.89%), and we had 8 patients who developed mild hypocalcaemia in the first month after the operation (“hungry bones” syndrome). We had few minor and transient postoperative complications and we did not encountered postoperative mortality in our series. Conclusions. Parathyroidectomy, regardless of the technical procedure, is feasible, safe and effective for patients with refractory secondary and tertiary hyperparathyroidism. Rezumat Introducere. Hiperparatiroidismul secundar este frecvent întâlnit la pacienţii dializaţi. Paratiroidectomia rămâne o soluţie terapeutică în cazul hiperparatiroidismului secundar refractar şi a celui terţiar. Scopul acestui studiu este de a urmări impactul paratiroidectomiei, indiferent de tehnica chirurgicală utilizată, asupra simptomatologiei şi principalelor constante biologice. Material şi metodă. Am studiat 29 de pacienţi la care s-a efectuat paratiroidectomie pentru hiperparatiroidism secundar şi terţiar, la Clinica Chirurgie II, Spitalul Clinic Judeţean de Urgenţă Mureş, în perioada februarie 2010- mai 2013. Paramentrii urmăriţi au fost clinici şi de laborator (parathormonul, calciul total, fosforul şi fosfataza alcalină serică, hemoglobina şi hematocritul) determinaţi preoperator, imediat postoperator şi pe termen scurt şi mediu de urmărire. Rezultate","PeriodicalId":288498,"journal":{"name":"Romanian Review of Laboratory Medicine","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131608148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The importance of genetic testing in adolescent-onset steroid-resistant nephrotic syndrome - Case report/ Importanţa testării genetice la adolescenţii cu sindrom nefrotic corticorezistent – Prezentări de caz","authors":"Zsuzsanna Gáll, Éva Kiss, Kálmán Tory, Attila Fintha, Carmen Duicu","doi":"10.2478/rrlm-2014-0031","DOIUrl":"https://doi.org/10.2478/rrlm-2014-0031","url":null,"abstract":"Abstract Approximately 10-20% of children and 40% of adults with idiopathic nephrotic syndrome are steroid resistant and progress to end-stage renal disease requiring dialysis or renal transplantation. In these cases, renal histology typically shows focal segmental glomerulosclerosis. Mutations in NPHS1, NPHS2, WT1, CD2AP and ACTN4 genes located on different chromosomes, expressed by glomerular podocytes, have been identified in patients with steroid-resistant nephrotic syndrome. The authors report two cases of adolescent-onset steroid-resistant nephrotic syndrome. Both cases had similar clinical and histopathological manifestations, with different prognosis and evolution due to different mechanisms leading to proteinuria: an acquired and a genetic form. The first case, a 16 year old girl presented the onset of the disease with massive, generalized edema, secondary hypothyroidism and high blood pressure. Evolution was favorable under cyclosporine therapy. The second case, a 13-years-old adolescent girl, presented an insidious onset of the disease with mild edema. Genetic testing revealed a mutation in the WT1 gene. The patient developed end-stage kidney failure eight months after the onset of the disease and following kidney transplant had a favorable evolution. Histological examination of the renal biopsy specimen showed focal segmental glomerulosclerosis in both cases. Conclusions: Genetic forms of nephrotic syndrome do not respond to immunosuppressive therapy and may progress to end-stage renal disease, but after kidney transplantation relapse is not expected, in contrast to the immune form. The early genetic diagnosis in steroid-resistant nephrotic syndrome is time-consuming, but is important for proper clinical management of the patients, prognosis and genetic counseling of the families. Rezumat Autorii prezintă două cazuri de sindrom nefrotic cortico-rezistent cu debut în adolescenţă, cu manifestări clinice şi histopatologice similare (scleroză glomerulară focal-segmentală), dar cu mecanisme diferite de producere a proteinuriei: o formă dobândită şi una genetică, având astfel prognostic şi evoluţie diferită. Primul caz, o adolescentă de 16 ani prezintă debutul bolii brusc cu edeme masive, generalizate, cu răspuns favorabil la tratamentul cu ciclosporină. A doua pacientă, o adolescentă de 13 ani, a prezentat sindrom nefrotic corticorezistent cu debut insidios cu edeme uşoare. În acest caz testarea genetică a evidenţiat o mutaţie în gena WT1, iar evoluţia a fost rapidă (în 8 luni) către insuficienţă renală terminală, dar cu evoluţie şi prognostic favorabil după transplant renal. Concluzii: Formele genetice ale sindromului nefrotic nu răspund la tratamentul imunosupresiv şi pot evolua către boală renală terminală, dar după transplant recăderea este puţin probabilă, în contrast cu formele imune. Diagnosticul genetic precoce în sindromul nefrotic cortico-rezistent este important pentru managementul optim al pacienţilor, precizarea prognosticului","PeriodicalId":288498,"journal":{"name":"Romanian Review of Laboratory Medicine","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127704983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}