bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autosomal dominant transmission of signal transduction and activator of transcription 1 (STAT1) mutation (Thr385Met) and extended lifespan
Authors: Wessell Kathryn Ruda , Tcheurekdjian Haig , Hostoffer Robert 
Published: February 2016

Introduction: Heterozygous mutations in signal transducer and activator of transcription 1 (STAT1) have been associated with selective deficiencies to mycobacterial or fungal infections. Recent reports revealed that patients found to carry de novo heterozygous mutations in STAT1 encoding specific amino acid substitutions can go on to develop progressive combined immunodeficiency, distinct from the limited susceptibilities to infection previously reported for heterozygous STAT1 mutations. Objectives: We present a case of a mother and her son with chronic mucocutaneous candidiasis and T-cell dysfunction, both of whom lived longer than projected life expectancy with a heterozygous STAT1 mutation. The son lived to the age of 20 years and the mother to the age of 32 years. Methods: The son's blood sequencing of STAT1 was performed on a pure T-cell lineage at The Hospital for Sick Children and the Canadian Center for Primary Immunodeficiency, Toronto, Ontario. Results: STAT1 analysis revealed a heterozygous DNA binding domain mutation at Thr385Met. The patient proceeded to develop fulminant progressive multifocal leukoencephalopathy that ultimately led to his death. The patient's mother, although never confirmed to have STAT1 mutation with formal blood sequencing, had multiple comorbidities including progressive lymphopenia, hypogammaglobulinemia, recurrent Pseudomonas pneumonias with associated bronchiectasis, end-stage kidney disease requiring hemodialysis, and ultimately death due to multiple end organ failure associated sepsis. Conclusion: This is the first autosomal dominant transmission of the STAT1 DNA binding domain Thr385Met mutation with an extended lifespan. Statement of Novelty: Previous patients found to have heterozygous mutations of STAT1 that were associated with progressive combined immunodeficiency, arose de novo in each case. Presumed autosomal dominant transmission of a heterozygous STAT1 DNA binding domain Thr385Met mutation has not been reported.
Kinetic Modelling of Drug Release from Pentoxifylline Matrix Tablets based on Hydrophilic, Lipophilic and Inert Polymers
Authors: Mircia Eleonora , Vlase Laurian , Hancu Gabriel , Budău Monica , Soare Ruxandra 
Published: February 2016

Abstract
Pentoxifylline is a xanthine derivative used in the treatment of peripheral vascular disease, which because of its pharmacokinetic and pharmacologic profile is an ideal candidate for the development of extended release formulations. The aim of this study is to present a kinetic analysis of the pentoxifylline release from different extended release tablets formulations, using mechanistic and empirical kinetic models. A number of 28 formulations were prepared and analysed; the analysed formulations differed in the nature of the matrix forming polymers (hydrophilic, lipophilic, inert) and in their concentrations. Measurements were conducted in comparison with the reference product Trental 400 mg (Aventis Pharma). The conditions for the dissolution study were according to official regulations of USP 36: apparatus no. 2, dissolution medium water, volume of dissolution medium is 1,000 mL, rotation speed is 50 rpm, spectrophotometric assay at 274 nm. Six mathematical models, five mechanistic (0 orders, 1st-order release, Higuchi, Hopfenberg, Hixson-Crowell) and one empirical (Peppas), were fitted to pentoxifylline dissolution profile from each pharmaceutical formulation. The representative model describing the kinetics of pentoxifylline release was the 1st-order release, and its characteristic parameters were calculated and analysed.
Graham Little-Lassueur Syndrome with Hypertrophic Lichen Planus in a Patient with Chronic Hepatitis C
Authors: Badea Mihail Alexandru , Buicu Florin , Ţilea Anton Mihai , Badea Iudita Maria , Chiotoroiu Andreea Luciana , Mureșan Vasile Adrian , Morariu Silviu Horia 
Published: February 2016

Abstract
Graham Little-Lassueur Syndrome (GLLS) is considered a form of lichen planopilaris which associates follicular lichen planus, cicatricial alopecia of the scalp and noncicatricial alopecia of the axillary and/or pubic regions. We present the case of a 47 years old female patient, known for 5 years with chronic hepatitis C and a poor therapeutic control of the disease due to Interferon intolerance. She presented to our clinic for the occurrence on the shins of some well-defined, intensely pruritic erythematous plaques, covered with thick scales, with a verrucous appearance, accompanied by excoriations. The skin biopsy reveal hypertrophic lichen planus on the shins and lichen planopilaris on the scalp. The patient was treated with systemic antihystamines, topical corticosteroids and salicylic acid under occlusion, emollients, phototherapy UVB narrow band 4 sessions/week for 3 weeks, cryotherapy. From our knowledge this is the first case of GLLS associated with chronic viral hepatis C.
Mass Casualty Incidents and Disaster Participation in Real versus Simulated Events in Romania
Authors: Stănescu Adrian , Boeriu Cristian , Copotoiu Sanda-Maria 
Published: February 2016

Abstract
Background: The current study outlines some of the main particularities of both real and simulated mass casualty incidents (MCI) and disasters in Romania as reported by medical and paramedical participating personnel. Methods: A non-profit organization in Romania trained 1250 doctors, nurses and paramedics for proper MCI interventions through a dedicated programme for the last part of the year 2013. Half a year later, an email with a unique link to an online questionnaire was sent to each participant to assess their opinion over the participation in real or already simulated MCI or disasters. The questionnaire consisted of 25 specific topics, out of which only a fraction were considered for the current study. Results: Out of all participants, 145 doctors, 184 nurses and 115 paramedics provided valid answers, totaling 444 responders. Most participants were satisfied with the information about the location and type of the incident they would respond to. The amplitude of a given event is generally well anticipated under simulation conditions as compared to real events, where the amplitude tends to be higher rather than lower than expected (p=0.0082). About three quarters of participants under real or simulated events repeated or demanded repeating the information trafficked through mobile radios, almost a quarter misinterpreted the information, and almost a half reported delayed operations due to miscommunication. Conclusions: Simulations are a proper method of communication evaluation for mass casualty incidents and disasters, which can also stress the common communication issues encountered during a real MCI unfolding.
Combined Myocardial Infarction in a Young Patient with Anomalous Coronary Artery Anatomy: A Case Report
Authors: Hadadi László , Lakatos Éva Katalin , Țăruși Mariana , Dobreanu Dan 
Published: February 2016

Abstract
Introduction: combined myocardial infarction (MI) is defined as the simultaneous ischemic injury of two different myocardial territories, raising the possibility of multiple culprit lesions. The anomalous origin of a coronary artery could represent an important challenge during percutaneous coronary intervention (PCI). Case presentation: A 46 year old, smoker Caucasian male presented to a territorial hospital four hours after the onset of severe angina. Consecutive electrocardiograms showed complete atrioventricular block and inferior ST segment elevation (STE), later PQ prolongation with right bundle branch block plus STE in leads V4-V6. After administration of thrombolytic treatment, the patient was transferred to the regional PCI center. Emergent coronary angiography revealed acute occlusion of the left anterior descending artery (LAD) and a thrombus containing, severe stenosis of the anomalously originated right coronary artery (RCA). Rescue PCI with stent implantation in the LAD and RCA was performed nine hours after pain onset. At the 1 year follow-up visit the patient had no angina or heart failure symptoms. Conclusion: this is the first report of a combined MI caused by acute, sequentially occurring thrombotic occlusion of two coronary arteries, one of them with anomalous origin, in a patient treated by rescue PCI following partially successful thrombolysis.
Papillary Thyroid Microcarcinomas: a 25 Years Retrospective, Institutional Study of 255 Cases
Authors: Zahan Ancuța Elena , Nechifor Boilă Adela , Pașcanu Ionela , Voidăzan Septimiu , Cătană Ramona , Fișus Andreea , Borda Angela 
Published: February 2016

Abstract
Background: Papillary thyroid microcarcinoma (PTMC) defines a group of papillary thyroid carcinomas, incidentally discovered, measuring 1 cm or less. The aim of our study was to evaluate the incidence and the pathological characteristics of PTMCs in our institution in the last 25 years, with special emphasis on the prognostic factors related to PTMCs. Material and methods: We performed a retrospective, cohort study on 255 PTMCs, registered in the Department of Pathology, Tîrgu-Mureş Emergency County Hospital between 1990 and 2014. Results: A significant increase in the incidence of PTMCs was observed in the 2004-2014 period, compared to 1990-2003 (7.6%, 229 PTMCs/3005 thyroid specimens vs. 1.2%, 23 PTMCs/1885 thyroid specimens). Conventional PTMCs accounted for most of PTMC cases (n=123 cases, 48.2%), followed by the follicular variant of PTC (n=117 cases, 45.9%). The increasing incidence of PTMCs was associated with a significant increase in the routine number of blocks sampled per case over the study period (R2 =0.72, p < 0.001). By means of the univariate and multivariate analysis, three risk factors were predictive for extrathyroidal extension in PTMCs: multifocality (Odds ratio [OR] 4.97, p-0.002), tumor size ≥ 5mm (OR 8.97, p-0.008) and lymph node involvement (OR 17.66 p<0.005). Conclusion: The incidence of PTMCs has revealed a significant increasing trend in our institution over the last 25 years. Multifocality, lymph node involvement and tumor size ≥ 5mm were found to be risk factors for extrathyroidal extension. These prognostic factors must be evaluated and clearly mentioned in the pathological report, to help a correct estimation of biological potential of the lesion and an appropriate postoperative management.
Distinct Morphological Features Predictive for Aggressiveness of Papillary Thyroid Microcarcinoma: a Study of 72 Cases and 80 Tumor Foci
Authors: Nechifor-Boilă Adela , Zahan Ancuţa Elena , Căpraru Oana , Cătană Ramona , Fișus Andreea , Berger Nicole 
Published: February 2016

Abstract
Introduction: In this study, we aimed to investigate the importance of some distinctive morphological parameters in predicting the extrathyroidal extension, as marker of aggressiveness, in a series of papillary thyroid microcarcinoma (PTMC) cases. Material and methods: All consecutive PTMC cases, sized ≥ 5mm, registered at the Department of Pathology, Tîrgu-Mureș Emergency County Hospital from January 2002 to December 2013 were re-evaluated. The following histological features were noted: the multifocality, the extrathyroidal extension, the histologic variant, the tumor’s border (well circumscribed versus infiltrative), the PTC nuclear features (well developed versus subtle), the tumor associated stromal reaction (fibrosis/desmoplasia/sclerosis versus none of these changes), the presence of “plump pink” cells, psammoma bodies, intratumoral lymphocytic infiltrate, cystic change, back-to-back arrangement, intratumoral multinucleated giant cells and lymph node involvement. Results: Our study included 72 PTMC cases, summing up to a total of 80 PTMC foci. We have shown that extrathyroidal extension is significantly associated with the presence of “plump pink”cells (p=0.0019), well developed nuclear features of PTC (p=0.018) and tumor associated stromal reaction (fibrosis/dezmoplazia/sclerosis) (p<0.0001). Other parameters were more prevalent among PTMC foci with extrathyroidal extension, but did not reach statistical significance. Conclusion: Our results pointed out the importance of a distinct set of morphological microscopical parameters, predictive for extrathyroidal extension in PTMC cases (“plump pink” cells, well developed PTC nuclear features, tumor associated stromal reaction, infiltrative tumor borders and conventional PTC histology). All these parameters are important to be mentioned in the histopathological reports, as they might be associated with a more aggressive biological behaviour.
Increased Cortisol Levels in Depression: A Comparative Study Evaluating the Correlation of Hypercortisolemia with Prosocial Coping Mechanisms
Authors: Moica Theodor , Gabos Grecu Iosif , Buicu Gabriela Elena , Ferencz Melinda , Gabos Grecu Marieta , Sălcudean Andreea , Popa Cosmin Octavian 
Published: February 2016

Abstract
Objective: The aim of this paper was to evaluate if depressed patients have an increased level of morning serum cortisol compared to healthy persons and to assess the relation between high levels of cortisol and prosocial coping mechanisms, in the context of Recurrent Major Depressive Disorder. Methods: Morning serum cortisol level was measured in 15 depressed patients hospitalized in First Clinic of Psychiatry Tirgu Mures and in 15 healthy controls. We have analyzed 3 behavioral coping strategies with The Strategic Approach of Coping Scale (SACS): social joining (SJ), seeking social support (SSS) and cautious action (CA). Results: 30 participants were included, the mean value of the cortisol for females was Mcort_female= 16.38 μg/dl and for males Mcort_male= 16.31 μg/dl. Independent sample t test showed that the cortisol level in depressed group was higher than the cortisol level in the control group: t = 2.394, p < 0.05 (0.024). In the MDD group the Spearman correlation between the level of serum cortisol and prosocial coping strategies was: rcortisol-SJ= -0.519; rcortisol-SSS= -0.107; rcortisol-CA= -0.382. Conclusions: Although the studied sample patient was small, we can conclude that the patients with Recurrent Major Depressive Disorder have an increased level of morning serum cortisol compared to healthy persons. In these patients there is an inverse correlation between the increased levels of morning cortisol and the frequency of use of the effective prosocial coping strategies, particularly the social joining type.
Intersphincteric Resection for Low Rectal Cancer – Case Report
Authors: Russu Cristian , Molnar Călin , Copotoiu Sanda Maria , Sărăcuț Claudiu , Gherghinescu Mircea , Molnar Varlam Claudiu , Copotoiu Constantin 
Published: February 2016

Abstract
Introduction: Surgical treatment for low rectal cancer represents a challenge: to perform a radical resection and to preserve the sphincter’s function. We report a case of intersphincteric resection in a combined multimodality treatment for low rectal cancer, with good oncologic and functional outcome. Case presentation: We report a case of a 73 years old woman admitted in April 2014 in surgery, for low rectal cancer. The diagnostic was established by colonoscopy and malignancy confirmed by biopsy. Complete imaging was done using computed tomography and magnetic resonance to establish the exact stage of the disease. The interdisciplinary individualized treatment began with radiotherapy (total dose of 50 Gy, administered in 25 fractions) followed by surgery after eight weeks. We performed intersphincteric rectal resection by a modified Schiessel technique. There were no postoperative complications and the oncologic and functional results were very good at one year follow up. Conclusions: Intersphincteric resection, in this selected case of low rectal cancer, represented an efficient surgical treatment, with good functional results and quality of life for the patient. A multidisciplinary team is an invaluable means of assessing and further managing the appropriate, tailored to the case, treatment in the aim of achieving best results.
The Relationship Between Chronic Inflammation and Glucidic-Lipidic Profile Disorders in Kidney Transplant Recipients
Authors: Tarța I.D. , Căldăraru Carmen Denise , Gliga Mirela , Huțanu Adina , Bajko Z. , Carașca E. , Dogaru G.A. 
Published: February 2016

Abstract
Introduction: Chronic inflammation has a proven role in atherogenesis, lipid profile parameters being related to cytokine production. In kidney transplant recipients, interleukin 6 (IL-6) is significantly associated with graft-related outcomes and also alterations of cholesterol and triglyceride metabolism. The aim of this study was to investigate the relationship between chronic inflammation and glucidic-lipidic metabolism disorders in a group of patients with kidney transplantation as renal replacement therapy. Methods: A prospective observational study which enrolled thirtysix non-diabetic kidney transplant recipients was conducted in the Nephrology and Peritoneal Dialysis Department, County Clinic Hospital of Tirgu Mures. The study group was divided as following: recipients with serum IL-6 concentration higher than 3.8 pg/ml (group A) and IL-6 within the normal range (group B). Results: Allograft recipients with higher serum IL-6 had significant higher erytrocyte sedimentation rate(ESR, p=0.0067). Patients with over-the-range levels of IL-6 had significant higher levels of serum cholesterol and LDL-cholesterol respectively (p=0.0242 and p=0.0081). Serum Apo-B was also significant higher in Group A than Group B. Protein excretion was significant higher in patients from group A (p=0.0013). No statistical significant relationship could be proven between elevated levels of IL-6 and hbA1c, insulin and glycosuria disturbances in the two groups. Also, we found no statistical significant association between resistivity and pulsatility indices (both hilum and intragraft) or carotid intima media thickness. Conclusion: Serum interleukin 6 is related to lipid profile disorders and less to glucidic metabolism anomalies in non-diabetic kidney transplant recipients.
High-on-Aspirin Residual Platelet Reactivity Evaluated Using the Multiplate® Point-of-Care Device
Authors: Mărginean Alina , Moldovan Valeriu , Mărginean Mihai 
Published: February 2016

Abstract
Objective: The aim of this study was to evaluate the prevalence of aspirin non-responsiveness using whole blood multiple electrode aggregometry and to investigate the role of different clinical and laboratory variables associated with the lack of response. Methods: The present study included 116 aspirin treated patients presented with acute coronary syndromes or stroke. Response to aspirin was assessed by impedance aggregometry using arachidonic acid as agonist, in a final concentration of 0.5 mM (ASPI test). Results: In our data set 81% (n=94) were responders and 19% (n=22) non-responders showing high-on-aspirin platelet reactivity. Correlation analysis showed that the ward of admittance, low-density lipoproteins (LDL), concomitant antibiotic treatment, beta-adrenergic receptor blockers, history of myocardial infarction as well as PCI performed on Cardiology patients have different degrees of association with aspirin response. Conclusion: Concomitant treatment with beta-adrenergic receptor inhibitors, history of myocardial infarction and Cardiology ward admittance significantly increased the chance of responding to aspirin treatment whereas antibiotic therapy and low-density lipoproteins cholesterol seemed to increase the risk of high-on-aspirin residual platelet reactivity.
Incidence of pathogens infections in a Romanian Intensive Care Unit and sensitivity to antibiotics. A prospective single center study
Authors: Bedreag Ovidiu Horea , Rogobete Alexandru Florin , Luca Loredana , Neamtu Claudiu , Dragulescu Dorian Mihai , Nartita Radu , Papurica Marius 
Published: February 2016

Abstract
Introduction: Nosocomial infections represent one of the biggest challenges faced by clinicians in the intensive care unit (ICU) and is associated with high morbidity and mortality. Infections in ICU are most often very serious and represent often the cause of hospitalization in intensive care clinics.
Aim of the study: This paper presents the incidence of nosocomial infections, and the sensitivity to antibiotics encountered in our ICU. Material and Methods: This prospective study was conducted for two years at the Clinic of Anesthesia and Intensive Care, Emergency County Hospital “Pius Brinzeu” Timisoara, Romania. All patients admitted to the ICU were analyzed in terms of signs and symptoms of bacterial infections.
Results: A total of 1081 microbiological reports were recorded. Among these, 635 (58.70 %) represented infections in the respiratory tract, 201 (18.60 %) in the bloodstream, 100 (9.30 %) in genitourinary tract, and 10 (0.90 %) in the central nervous system. The top five most frequently identified pathogen in microbiological reports are Klebsiella sp (17.60 %), Acinetobacter sp (14.20 %), Proteus mirabilis (13.80 %), Pseudomonas aeruginosa (12.90 %), Staphylococcus aureus - MSSA (12.80%).
Conclusions: In order to choose empirical treatment, international guidelines should be consulted according to each pathology and adapted to the sensitivity encountered in the microbiology reports of the Critical Care Unit.
Volemic Resuscitation in a Patient with Multiple Traumas and Haemorrhagic Shock. Anti-oxidative Therapy Management in Critical Patients. A Case Report
Authors: Bedreag Ovidiu Horea , Rogobete Alexandru Florin , Sarandan Mirela , Cradigati Alina Carmen , Nartita Radu , Sandesc Dorel , Papurica Marius 
Published: February 2016

Abstract
A patient with multiple traumas is usually found in severe haemorrhagic shock. In 40% of the cases, the patient with multiple traumas and haemorrhagic shock cannot recover due to secondary injuries and complications associated with the shock. In this paper we present the case of a male patient 30 years old, who suffered a car accident. The patient is admitted in our hospital with haemorrhagic shock due to femur fracture, acute cranial-cerebral trauma and severe thoracic trauma with bleeding scalp wound, associated with lethal triad of trauma. The clinical and biological parameters demand massive transfusion with packed red blood cells (PRBCs), fresh frozen plasma (FFP), cryoprecipitate (CRY) and colloidal solution (CO) sustained with vassopresor for the haemodynamic stabilisation. During his stay in the ICU, the patient benefits from anti-oxidative therapy with Vitamin C, Vitamin E and Vitamin B1. After 14 days the clinical state of the patient improves and he is transferred in Polytrauma Department.
Endocrine Dysfunction in Neurofibromatosis Type 1 – An Update
Authors: Pop Raluca-Monica , Neagoe Radu Mircea , Kolcsar Melinda , Paşcanu Ionela 
Published: February 2016

Abstract
Background: Neurofibromatosis type 1 is an autosomal dominant disorder associated with multiple neoplasms particularly those of ectodermal origin. Various endocrine pathologies are often present, among them, hyperparathyroidism and follicular thyroid lesion are very rare described and their coincidence in the same patient has not been described in the literature reviewed.
Subject: A 59-years-old woman with clinical manifestation of neurofibromatosis type 1 developed dysphagia, dysphonia, choking sensation. Physical and imagistic examination revealed a multinodular goiter with microfollicular lesion on fine needle aspiration biopsy (FNAB), elevated parathormone levels and severe osteoporosis. The surgically removed thyroid contained a nodule with follicular architecture of uncertain malignant potential; the parathyroid tissue appeared normal.
Discussion and conclusion: This case serves as a reminder to look for non-neurogenic tumors in patients with neurofibromatosis. Clinicians must be aware of the diverse clinical features of this genetic disorder.