Rivista e Edizione

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Volume 29 (2021): Edizione 3 (July 2021)

Volume 29 (2021): Edizione 2 (April 2021)

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Volume 28 (2020): Edizione 4 (October 2020)

Volume 28 (2020): Edizione 3 (July 2020)

Volume 28 (2020): Edizione 2 (April 2020)

Volume 28 (2020): Edizione 1 (January 2020)

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Volume 27 (2019): Edizione 3 (July 2019)

Volume 27 (2019): Edizione 2 (April 2019)

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Volume 26 (2018): Edizione 2 (April 2018)

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Volume 25 (2017): Edizione 3 (July 2017)

Volume 25 (2017): Edizione 2 (April 2017)

Volume 25 (2017): Edizione 1 (January 2017)

Volume 24 (2016): Edizione 4 (December 2016)

Volume 24 (2016): Edizione 3 (September 2016)

Volume 24 (2016): Edizione 2 (June 2016)

Volume 24 (2016): Edizione 1 (March 2016)

Volume 23 (2015): Edizione 4 (December 2015)

Volume 23 (2015): Edizione 3 (August 2015)

Volume 23 (2015): Edizione 2 (June 2015)

Volume 23 (2015): Edizione 1 (March 2015)

Volume 22 (2014): Edizione 4 (December 2014)

Volume 22 (2014): Edizione 3 (September 2014)

Volume 22 (2014): Edizione 2 (June 2014)

Volume 22 (2014): Edizione 1 (March 2014)

Volume 21 (2013): Edizione 4 (December 2013)

Volume 21 (2013): Edizione 3 (September 2013)

Volume 21 (2013): Edizione 2 (June 2013)

Volume 21 (2013): Edizione 1 (March 2013)

Dettagli della rivista
Formato
Rivista
eISSN
2284-5623
Pubblicato per la prima volta
08 Aug 2013
Periodo di pubblicazione
4 volte all'anno
Lingue
Inglese

Cerca

Volume 22 (2014): Edizione 3 (September 2014)

Dettagli della rivista
Formato
Rivista
eISSN
2284-5623
Pubblicato per la prima volta
08 Aug 2013
Periodo di pubblicazione
4 volte all'anno
Lingue
Inglese

Cerca

10 Articoli
Accesso libero

A glance on recent progresses in diagnosis and treatment of primary immunodeficiencies/ Progrese recente în diagnosticul şi tratamentul imunodeficienţelor primare

Pubblicato online: 08 Oct 2014
Pagine: 297 - 309

Astratto

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.

Keywords

  • Awareness
  • early diagnosis
  • gene therapy
  • hematopoietic stem cell transplantation
  • immunoglobulin G concentrates
  • new-born screening
  • primary immunodeficiencies
  • replacement therapy
Accesso libero

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

Pubblicato online: 08 Oct 2014
Pagine: 311 - 319

Astratto

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.

Parole chiave

  • steroid-resistant nephrotic syndrome
  • adolescent
  • WT1
  • focal segmental glomerulosclerosis

Cuvinte cheie

  • sindrom nefrotic cortico-rezistent
  • adolescent
  • WT1
  • FSGS
Accesso libero

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

Pubblicato online: 08 Oct 2014
Pagine: 321 - 323

Astratto

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.

Parole chiave

  • hypouricemia;primary immunodeficiency;severe combined immunodeficiency;purine nucleoside phosphorylase deficiency

Cuvinte cheie

  • hipouricemie;imunodeficienţă primară;imunodeficienţă severă combinată;deficit de purin nucleozid fosforilază
Accesso libero

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

Pubblicato online: 08 Oct 2014
Pagine: 325 - 333

Astratto

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.

Parole chiave

  • acute intermittent porphyria
  • urinary porphyrins
  • heme biosynthesis
  • pathogenesis of attack in acute intermittent porphyria

Cuvinte cheie

  • porfirie acută intermitentă
  • porfirine urinare
  • biosinteza hemului
  • patogeneza atacului acut de porfirie acuta intermitentă
Accesso libero

Optimisation of the quantitative analysis of inflammatory cell infiltrates in breast cancer /Optimizarea analizei cantitative a infiltratului celular inflamator în cancerul mamar

Pubblicato online: 08 Oct 2014
Pagine: 335 - 345

Astratto

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.

Keyword

  • the quantitative analysis
  • cut-off
  • inflammatory infiltrates
  • breast cancer

Cuvinte cheie

  • analiză cantitativă
  • cut off
  • infiltrat inflamator
  • cancer mamar
Accesso libero

Genotype-phenotype correlations in patients treated with acenocoumarol / Corelaţii genotip-fenotip la pacienţii trataţi cu acenocumarol

Pubblicato online: 08 Oct 2014
Pagine: 347 - 354

Astratto

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

Parole chiave

  • Acenocoumarol
  • CYP2C9
  • INR
  • VKORC1

Cuvinte cheie

  • Acenocumarol
  • CYP2C9
  • INR
  • VKORC1
Accesso libero

Parathyroidectomy in the treatment of secondary hyperparathyroidism. Clinical and laboratory outcomes/ Paratiroidectomia în tratamentul hiperparatiroidismului secundar. Aspecte clinice şi de laborator

Pubblicato online: 08 Oct 2014
Pagine: 355 - 367

Astratto

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.

Parole chiave

  • hyperparathyroidism
  • parathyroidectomy
  • clinical and biochemical follow-up

Cuvinte cheie

  • hiperparatiroidism
  • paratiroidectomie
  • urmărire postoperatorie
Accesso libero

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

Pubblicato online: 08 Oct 2014
Pagine: 369 - 375

Astratto

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.

Parole chiave

  • chromogranin A
  • neuroendocrine tumor
  • serotonin

Cuvinte cheie

  • cromogranina A
  • tumora neuroendocrina
  • serotonina
Accesso libero

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

Pubblicato online: 08 Oct 2014
Pagine: 377 - 386

Astratto

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.

Keywords

  • biomarker
  • cerebro-spinal fluid
  • phosphorylated neurofilament subunit NF-H
  • spinal cord injury

Cuvinte cheie

  • biomarker
  • lichid cefalorahidian
  • neurofilamente fosforilate (subunitatea pNF-H)
  • traumatism vertebro-medular
Accesso libero

Detection of the genetically modified organisms from food products/ Detecţia organismelor modificate genetic din produse alimentare

Pubblicato online: 08 Oct 2014
Pagine: 387 - 395

Astratto

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).

Keywords

  • screening
  • GMO testing
  • PCR
  • food products

Cuvinte cheie

  • screening
  • testarea OMG
  • PCR
  • produse alimentare
10 Articoli
Accesso libero

A glance on recent progresses in diagnosis and treatment of primary immunodeficiencies/ Progrese recente în diagnosticul şi tratamentul imunodeficienţelor primare

Pubblicato online: 08 Oct 2014
Pagine: 297 - 309

Astratto

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.

Keywords

  • Awareness
  • early diagnosis
  • gene therapy
  • hematopoietic stem cell transplantation
  • immunoglobulin G concentrates
  • new-born screening
  • primary immunodeficiencies
  • replacement therapy
Accesso libero

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

Pubblicato online: 08 Oct 2014
Pagine: 311 - 319

Astratto

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.

Parole chiave

  • steroid-resistant nephrotic syndrome
  • adolescent
  • WT1
  • focal segmental glomerulosclerosis

Cuvinte cheie

  • sindrom nefrotic cortico-rezistent
  • adolescent
  • WT1
  • FSGS
Accesso libero

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

Pubblicato online: 08 Oct 2014
Pagine: 321 - 323

Astratto

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.

Parole chiave

  • hypouricemia;primary immunodeficiency;severe combined immunodeficiency;purine nucleoside phosphorylase deficiency

Cuvinte cheie

  • hipouricemie;imunodeficienţă primară;imunodeficienţă severă combinată;deficit de purin nucleozid fosforilază
Accesso libero

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

Pubblicato online: 08 Oct 2014
Pagine: 325 - 333

Astratto

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.

Parole chiave

  • acute intermittent porphyria
  • urinary porphyrins
  • heme biosynthesis
  • pathogenesis of attack in acute intermittent porphyria

Cuvinte cheie

  • porfirie acută intermitentă
  • porfirine urinare
  • biosinteza hemului
  • patogeneza atacului acut de porfirie acuta intermitentă
Accesso libero

Optimisation of the quantitative analysis of inflammatory cell infiltrates in breast cancer /Optimizarea analizei cantitative a infiltratului celular inflamator în cancerul mamar

Pubblicato online: 08 Oct 2014
Pagine: 335 - 345

Astratto

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.

Keyword

  • the quantitative analysis
  • cut-off
  • inflammatory infiltrates
  • breast cancer

Cuvinte cheie

  • analiză cantitativă
  • cut off
  • infiltrat inflamator
  • cancer mamar
Accesso libero

Genotype-phenotype correlations in patients treated with acenocoumarol / Corelaţii genotip-fenotip la pacienţii trataţi cu acenocumarol

Pubblicato online: 08 Oct 2014
Pagine: 347 - 354

Astratto

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

Parole chiave

  • Acenocoumarol
  • CYP2C9
  • INR
  • VKORC1

Cuvinte cheie

  • Acenocumarol
  • CYP2C9
  • INR
  • VKORC1
Accesso libero

Parathyroidectomy in the treatment of secondary hyperparathyroidism. Clinical and laboratory outcomes/ Paratiroidectomia în tratamentul hiperparatiroidismului secundar. Aspecte clinice şi de laborator

Pubblicato online: 08 Oct 2014
Pagine: 355 - 367

Astratto

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.

Parole chiave

  • hyperparathyroidism
  • parathyroidectomy
  • clinical and biochemical follow-up

Cuvinte cheie

  • hiperparatiroidism
  • paratiroidectomie
  • urmărire postoperatorie
Accesso libero

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

Pubblicato online: 08 Oct 2014
Pagine: 369 - 375

Astratto

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.

Parole chiave

  • chromogranin A
  • neuroendocrine tumor
  • serotonin

Cuvinte cheie

  • cromogranina A
  • tumora neuroendocrina
  • serotonina
Accesso libero

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

Pubblicato online: 08 Oct 2014
Pagine: 377 - 386

Astratto

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.

Keywords

  • biomarker
  • cerebro-spinal fluid
  • phosphorylated neurofilament subunit NF-H
  • spinal cord injury

Cuvinte cheie

  • biomarker
  • lichid cefalorahidian
  • neurofilamente fosforilate (subunitatea pNF-H)
  • traumatism vertebro-medular
Accesso libero

Detection of the genetically modified organisms from food products/ Detecţia organismelor modificate genetic din produse alimentare

Pubblicato online: 08 Oct 2014
Pagine: 387 - 395

Astratto

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).

Keywords

  • screening
  • GMO testing
  • PCR
  • food products

Cuvinte cheie

  • screening
  • testarea OMG
  • PCR
  • produse alimentare

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