Possible synergistic effect of apoE and LRP1 genotypes on metabolic syndrome development in Serbian patients.

The modern way of life contributes to the higher frequency of a complex state medically called metabolic syndrome (MetS), which is an inevitable consequence of several most common diseases of modern civilization. Patients with MetS have three times higher risk of experiencing a heart attack or a stroke and twice higher possibility to die from them. Serbia holds the infamous third place in Europe in mortality from heart disease, just behind Russia and Ukraine. The study explores the correlation of every combination of genotypes of apoE (apolipoprotein E) and LRP1 (low density receptor- related protein 1) genes with presence of MetS, and the connection with each anthropometric and biochemical parameter in both tested groups. Study demonstrates the impact of genotype combinations on the emergence and development of the MetS in Serbia. 63 patients and 30 controls were included in the study, aged from 19 to 65. Each person genotype was determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) profile. Odds ratio (OR) values showed that the presence of apoE e3e4/LRP1 CC genotype combination of genotypes in patients multiplies the chance (7.6 times) for the occurrence of the MetS in comparison to the presence of other genotype combinations. Determining the genetic basis of MetS is one of the necessary steps in the prevention of disease, saving the cost of treatment, and in the design of targeted therapies.

The LRP1 Gene Polymorphism is associated with Increased Risk of Metabolic Syndrome Prevalence in the Serbian Population.

The determination of genetic background in metabolic syndrome (MetS) represents one of the necessary steps to prevent the disorder, thus reducing the cost of medical treatments and helping to design targeted therapy. The study explores the association between individual alleles of the LRP1 gene and the diagnosis of MetS to find correlation between the low-density lipoprotein receptor-related (LRP1) gene polymorphism and each individual anthropometric and biochemical parameter. The study included 93 males and females, aged from 19 to 65, divided into two groups. The genotype of each person was determined from the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) profile. Results indicated the association of the T allele form of exon 3 LRP1 gene with development and progression of MetS that further pointed out its negative impact on tested anthropometric and biochemical parameters. The presence of the T allele in patients multiplies the chance of occurrence of deviations from the reference values of body mass index (BMI), (4.24-fold) and low-density lipoprotein (LDL) (20.26-fold) compared to C allele carriers. The results showed that T allele presence multiplies the chance (4.76 fold) for the occurrence of MetS in comparison to C allele carriers. Correlation found that the T allele of the LRP1 gene with MetS determinants is not negligible, therefore, the T allele may be considered as a risk factor for MetS development.

How often absence of palmaris longus and functional deficiencyof flexor digitorum superficialis occurs ?

This study was designed to find a possible correlation between the presence of the palmaris longus and function of the fifth flexor digitorum superficialis. We examined 300 participants to assess the absence of palmaris longus and flexor digitorum superficialis function by several clinical tests. Overall absence of palmaris longus, was seen in 157 participants (52.3%). Overall deficiency of flexor digitorum superficialis was noted in 100 participants (33.3%). In 15 participants (5%) we noted bilateral absence of palmaris longus and flexor digitorum superficialis deficiency. Five participants (1.7%) had unilateral absence of palmaris longus and flexor digitorum superficialis deficiency on the same, left or right hand. Bilaterally presence of these muscles we noted in 95 participants (31.7%). We believe that there is no connection between absent palmaris longus and absent function of flexor digitorum superficialis. We found a much higher prevalence of muscles absence individually and jointly than in other studies.

Obstructive sleep apnoea as a late complication after tracheostomy.

BACKGROUND: Obstructive sleep apnoea occurs consequent to partial or complete upper airway obstruction, caused mostly by the collapse of upper airway musculature. Drug-induced sleep endoscopy represents the 'gold standard' in identifying the obstruction site, from the palatal level to laryngeal entry. Breathing impairment in sleep caused by the collapse of cervical trachea after previous tracheostomy has not yet been described in the literature. METHODS: This report presents two patients with severe obstructive sleep apnoea, in whom pre-operative drug-induced sleep endoscopy revealed upper airway and cervical trachea collapse at the level of previous tracheostomy. RESULTS: The female patient was successfully treated with resection of hypertrophic tissue of the tongue base via lateral pharyngectomy, and resection of the collapsed segment of the trachea with primary reconstruction of the trachea by end-to-end anastomosis. The male patient was recommended continuous positive airway pressure therapy because of serious co-morbidities and high operative risk. CONCLUSION: Drug-induced sleep endoscopy should always be used for visualisation of anatomical structures below the vocal folds in patients with a history of cervical trachea surgery. These two cases demonstrate the importance of drug-induced sleep endoscopy in planning conservative and surgical treatments, contributing significantly to operative success.