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1.
Chirurgia (Bucur) ; 117(5): 526-534, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36318682

ABSTRACT

Background: Spontaneous retroperitoneal hematoma is a severe and potentially fatal complication that appears in the course of anticoagulation therapy. Therapeutic doses of low molecular weight heparin (LMWH) are used for the prevention of thrombosis in patients seriously ill with Covid-19. Methods: We describe 27 (0.14%) patients with retroperitoneal hematomas who required emergency surgery out of 19108 patients with Covid-19 who were hospitalized in Batajnica COVID Hospital between March 2021 and March 2022. All the patients were on therapeutic doses of LMWH. The existence of retroperitoneal hematoma was confirmed by abdominal ultrasound and computed tomography scans. Results: Open surgery was performed on 27 patients with spontaneous retroperitoneal hematomas (12 female and 15 male). The mean age of the study population was 71.6+-11.9 years. D-dimer was significantly elevated two days before the surgery in comparison with the values on the day of surgery (p=0.011). Six patients (22.23%) survived, while 21 (77.77%) patients died. Conclusion: Bleeding in Covid-19 patients treated by LMWH is associated with an increased risk of developing retroperitoneal hematoma. Open surgery for retroperitoneal hematoma in Covid-19 patients on anticoagulation therapy is a procedure associated with a high rate of mortality.


Subject(s)
COVID-19 , Peritoneal Diseases , Humans , Male , Female , Middle Aged , Aged , Aged, 80 and over , Heparin, Low-Molecular-Weight , Anticoagulants , Treatment Outcome , Hematoma , Gastrointestinal Hemorrhage
2.
Mol Syndromol ; 11(2): 104-109, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32655342

ABSTRACT

Mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been linked to malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. RYR1 is an intracellular calcium release channel and plays a crucial role in the sarcoplasmic reticulum and transverse tubule connection. Here, we report 2 fetuses from the same parents with compound heterozygous mutations in the RYR1 gene (c.10347+1G>A and c.10456-2Α>G) who presented with fetal akinesia and polyhydramnios at 27 and 19 weeks of gestation with intrauterine growth restriction in the third pregnancy. The prospective parents of the fetuses were heterozygous carriers for c.10456-2Α>G (mother) and c.10347+1G>A (father). Both mutations affect splice sites resulting in dysfunctional protein forms probably missing crucial domains of the C-terminus. Our findings reveal a new RYR1 splice site mutation (c.10456-2Α>G) that may be associated with the clinical features of myopathies, expanding the RYR1 spectrum related to these pathologies.

3.
J Neurol ; 264(6): 1091-1098, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28444446

ABSTRACT

Discovering novel mutations in C9orf72, FUS, ANG, and TDP-43 genes in ALS patients arises necessities for better clinical characterizations of these subjects. The aim is to determine clinical and cognitive profile of genetically positive Serbian ALS patients. 241 ALS patients were included in the study (17 familiar and 224 apparently sporadic). The following genes were analyzed: SOD1, C9orf72, ANG, FUS, and TDP-43. An extensive battery of classic neuropsychological tests was used in 27 ALS patients (22 SOD1 positive and 5 SOD1 negative) and 82 healthy controls (HCs). Overall 37 (15.4%) of 241 ALS patients carried mutations in tested genes-among 17 familiar ALS patients 16 (94.1%) were positive and among 224 apparently sporadic 21 (9.4%) had causative mutation. Mutations in SOD1 gene were the most common, representing 27 (73.0%) of all genetically positive ALS patients. The main clinical characteristics of SOD1 positive patients were: spinal onset in lower extremities, common sphincter and sensitive disturbances, and dysexecutive syndrome. Within SOD1 positive patients, we noticed somewhat earlier onset in patients with A145G, sensory and sphincter disturbances were dominant in patients with L144F, while D90A patients had significant sensory involvement. SOD1 negative group consisted of ten (27.0%) patients (six C9orf72, two ANG, one TDP-43, and one patient baring triple FUS, C9orf72 expansion, and ANG variants). Bulbar involvement and more extensive neuropsychological impairment (including executive, visuospatial, and memory difficulties) were the main features of SOD1 negative cohort. Our results suggest that meaningful clinical suspicion of certain ALS genotype might be made based on thorough clinical evaluation of patients.


Subject(s)
Amyotrophic Lateral Sclerosis/complications , Amyotrophic Lateral Sclerosis/genetics , Cognition Disorders/etiology , Cognition Disorders/genetics , Amyotrophic Lateral Sclerosis/epidemiology , C9orf72 Protein/genetics , Cohort Studies , DNA-Binding Proteins/genetics , Disability Evaluation , Female , Genetic Association Studies , Genetic Testing , Humans , Male , Mutation/genetics , Neuropsychological Tests , RNA-Binding Protein FUS/genetics , Ribonuclease, Pancreatic/genetics , Serbia/epidemiology , Superoxide Dismutase-1/genetics , Tertiary Care Centers
4.
Acta Clin Croat ; 56(4): 581-587, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29590709

ABSTRACT

Polytrauma is a term describing patients with injuries involving multiple body regions that compromises function of the body and/or organ involved. The aim of the study was to evaluate the potential role of erythropoietin in predicting poorer outcome in trauma patients. This prospective study included 86 patients admitted to the Emergency Center of Serbia due to polytrauma assigned according to Injury Severity Score (ISS). The patients were further evaluated using the Acute Physiology and Chronic Health Evaluation II and Sequential Organ Failure Assessment scores and erythropoietin levels. There was a significant difference among erythropoietin levels at admission, after 48 and 72 hours, and on day 7 of hospital stay, with significantly higher levels in patients with ISS values 49-75. Based on the results, ROC curves were used to identify cut-off levels to predict ISS score with critical clinical course. It was concluded that erythropoietin could be a good marker of injury severity. Further research has to be performed to determine the cut-off values of erythropoietin that are significant for injury severity.


Subject(s)
Erythropoietin , Injury Severity Score , Multiple Trauma , Erythropoietin/analysis , Humans , Prospective Studies , Serbia , Treatment Outcome
5.
Med Glas (Zenica) ; 11(2): 326-32, 2014 Aug.
Article in English | MEDLINE | ID: mdl-25082248

ABSTRACT

AIM: To assess IL-10 serum concentration according to outcome of severe trauma treatment and influence of short nuclear polymorphism (SNP) 1082G/A within IL-10 gene on treatment outcome of patients with severe trauma. METHODS: Forty-seven patients with major trauma were prospectively recruited, and they were divided into two groups according to outcome (survivors and non-survivors). The IL-10 gene polymorphisms were genotyped using restriction fragment length polymorphism analysis. Serum IL-10 levels were determined with enzyme-linked immunosorbent assay. Association between IL-10 serum concentration, IL-10 SNP type and IL-10 serum concentration in groups of patients with different SNPs with outcome after severe trauma was evaluated. RESULTS: Mean age of patients was 35.53±14.53 years. The major mechanism of injury was traffic, and the mean injury severity score was 35.47±11.23. Despite higher values of IL-10 serum concentrations in patients with lethal outcome, the difference was not statistically significant. In 40 (85%) patients no gene polymorphism for IL-10 was recorded. No statistical significance in frequency of IL-10-1082 gene polymorphism was observed between the patients with different outcomes of polytrauma. No statistically significant difference in IL-10 values was evidenced between the subjects with and without polymorphisms in any of the observed times of measurement, although a trend toward the higher values may be observed in patients with polymorphism in heterozygous form. CONCLUSION: The patients with IL-10 SNP gene polymorphism despite no proven statistical significance appeared to have higher values of IL-10 and consequently worse outcome.


Subject(s)
Interleukin-10/blood , Interleukin-10/genetics , Wounds and Injuries/blood , Wounds and Injuries/genetics , Adult , Female , Genotype , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide , Prognosis , Prospective Studies , Statistics, Nonparametric
6.
Acta Chir Iugosl ; 58(2): 137-42, 2011.
Article in English | MEDLINE | ID: mdl-21879663

ABSTRACT

Ageing of populataion world wide has significant contribution as one of the major risk factor for neurodegenerative disorders. The patients with neurodegenerative as well as other neuological diseases presented the population with possible great need either of small or big surgical intervention. There are several important issues in patients with neurological diseases: the nature, disease duration, therapy, the patient's ability to live without assistance. Neurological disease may become worst by general and regional anesthesia. Stopping therapy may lead to worsening of neurological diseases. One of the main common threat is the risk of significant cardiorespiratory complications, which is important in assessing operational risk, in preoperative preparation and in terms of postoperative recovery and outcomes of surgical treatment. This has resulted in greater preoperative care by detailed patient history evaluation and examination, patient information and informed consent. Besides the effect of the anaesthetic technique upon the course of the disease, there is also the interaction of drugs administered during anaesthesia and patient medication. Several undiagnosed diseases may be disclosed following a surgical/anaesthetic intervention.


Subject(s)
Nervous System Diseases/diagnosis , Nervous System Diseases/therapy , Preoperative Care , Alzheimer Disease/diagnosis , Alzheimer Disease/therapy , Amyotrophic Lateral Sclerosis/diagnosis , Amyotrophic Lateral Sclerosis/therapy , Anesthesia , Humans , Multiple Sclerosis/diagnosis , Multiple Sclerosis/therapy , Myasthenia Gravis/diagnosis , Myasthenia Gravis/therapy , Parkinson Disease/diagnosis , Parkinson Disease/therapy
7.
Acta Chir Iugosl ; 58(2): 163-8, 2011.
Article in English | MEDLINE | ID: mdl-21879667

ABSTRACT

Eating disorders are very common today. An increasing number of patients that undergo anesthesia and surgery have some nutritional disorder. These disorders are very versatile starting from obesity to anorexia. Significant changes in all organ systems are present. These pathophysiological changes are increased with the duration of the disease. There are many changes in the functioning of the cardiovascular system in all these diseases and there are significant. Respiratory and ventilatory functions are changed too. There are also many endocrine disorders. As a final result, there are many serious biochemical and coagulation disorders. These patients are often under some drug treatment. Patients could be under psychiatric therapy (psychiatric drugs) and/or could take drugs for relieving symptoms related to the pathophysiological changes in different organ systems. Preoperative preparation of patients must be detailed. All changes must be improved to optimal condition. In addition, it is necessary to think about the possible influence of used drugs on the anesthesia.


Subject(s)
Feeding and Eating Disorders/diagnosis , Feeding and Eating Disorders/therapy , Malnutrition/diagnosis , Malnutrition/therapy , Obesity/diagnosis , Preoperative Care , Humans
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