The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease

The intervertebral disc disease (IDD) is one of the most common musculoskeletal disorders. A number of environment and anthropometric risk factors may contribute to it. The recent reports have suggested the importance of genetic factors, especially these which encode collagen types IX and XI. The allelic variants in the collagen IX genes – COL9A2 (Trp2) and COL9A3 (Trp3) have been identified as genetic risk factors for IDD, because they interfere the cross-linking between collagen types II, IX and XI and result in decreased stability of intervertebral discs. Type XI collagen is a minor component of cartilage collagen fibrils, but it is present in the annulus fibrosus and nucleus pulposus of intervertebral discs. Some studies have shown the association between gene COL11A1 polymorphism c.4603C>T and IDD. The frequency of 4603T allele was significantly higher in the patients with IDD than in the healthy controls

An 11-year-old boy with Down syndrome phenotype and partial duplication in 21q11.2-q21 region

Opis przypadku 11-letniego chłopca z zespołem Downa ze stwierdzoną de novo częściową duplikacją chromosomu 21. pary. W pracy dokonano prezentacji algorytmu diagnostycznego, jak również skrótowego przeglądu literaturowego.We report a clinical case of an 11-year-old boy with de novo partial duplication of chromosome 21st pair and some clinical features of Down syndrome. Using hr-CGH method (high resolution Comparative Genomic Hybridization) we detected a quantitative change (a duplication) in 21q21-q11.2 region. To confirmed the results of hr-CGH analysis we used Quantitative Fluorescent Real Time PCR method with four primers for two different genes located in duplication region

Treatment of cerebral palsy using stem cells

Cerebral palsy is a wide group of diseases whose common feature are motor disorders. Patients affected by this condition show abnormalities of movement and posture. Various possible causes of damage were identified. Hypoxia, ischemia, infection, injury and congenital defects are one of the conditions that increase the risk of the disease. The first signs of cerebral palsy noted by parents are: incorrect head and torso stabilization, inability to sit and walk at the right age. There are currently no treatments available that would indicate good efficacy. . In recent years, stem cell therapies have enjoyed considerable interest. The encouraging results of many preclinical studies have indicated that stem cell therapy may have benefits in neonatal diseases. Despite many encouraging reports, data on the effectiveness of stem cell therapy in cerebral palsy are still insufficient. Scientists should continue to research the success of the therapy

Bacterial infections of the lower genital tract in fertile and infertile women from the southeastern Poland

Objectives: The objective of the study was to investigate the detection rates of Chlamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma genitalium, Mycoplasma hominis, Ureaplasma urealyticum, Gardnerella vaginalis, Escherichia coli, Streptococcus agalactiae and Enterococcus faecalis, showing no clinical signs of an ongoing, acute inflammatory state of the vagina and/or the cervix, in fertile and infertile women. Material and methods: The study encompassed 161 women, including 101 women treated for infertility and 60 fertile women who had already given birth to healthy children. The material for the presence of C. trachomatis, N. gonorrhoeae, M. genitalium, M. hominis and U. urealyticum was collected from the cervical canal and analyzed by PCR. Furthermore, BD ProbeTec ET system was used to detect C. trachomatis infection. Vaginal swabs were collected for classification of bacterial vaginosis and aerobic vaginitis and assessed according to the Nugent score, as well as by traditional culture methods. Results: U. urealyticum was identified in 9% of the infertile women and in 8% of controls. Presence of M. hominis was demonstrated only in the former (4%) and C. trachomatis only in latter (3%). N. gonorrhoeae and M. genitalium were not found in any of the examined women. The frequency of aerobic vaginitis in both groups was estimated at 12%. There were 7% bacterial vaginosis cases in the study group, and none in the control group (p=0.0096). Conclusions: Despite having no symptoms of an ongoing acute inflammation of the reproductive tract, many women may experience permanent or periodic shifts of equilibrium of the vaginal and/or cervical microflora. BV develops more frequently in infertile patients when compared to the fertile women

Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland

Pompe disease is estimated to happen in 1 out of 40 000 borns. It is rare metabolic disease connected to autosomal recessive genetic mutation. Disease is characterised by deficit of α-glucosidase (GAA) which is lysosomal glycogen hydrolizing enzyme acid. Decreased activity of enzyme leads to glycogen storage in lysosomes which appears as disfunction of tissues, especially cardiac muscle and skeletal muscles. In Poland, we have two common and very simple methods to diagnose Pompe disease. First test is dried blood spot (DBS), second is full peripheral blood test. Currently, in Poland, drug containing alglucosidase alpha is refunded. Drug is available as powder for infusion. Periodic assessment of therapy effectiveness is performed at least every 6 months based on rating the patient's clinical condition and assessment of the effectiveness of the therapy used

Toxic relationship and drug addicted? – a case series of teenagers with behavioural disorders

Poland is among the infamous leaders among countries when it comes to the percentage of suicide attempts among young people. Methadone is a long-acting opioid agonist, which is mainly used as substitution treatment for heroin and morphine addiction. There is a typical triad for methadone overdose consisting of respiratory failure, myopic pupils and central nervous system depression. It may also lead to QT prolongation with following torsade de pointes. We present two teenager patients, who were poisoned with methadone. They were both under the influence of their boyfriend who was drug addicted. What is more, the girls both were in toxic relationship with the same man, who had similar influence on them. First patient was 18 years old. She was admitted to Department of Toxicology and Cardiology because of intravenous methadone overdose. The treatment used improved the general condition. No abnormalities were seen in the clinical examination. Teenager was examined by psychiatrist and psychologist. Second patient, 16 years old, was hospitalized twice. Teenager admitted that she got methadone from her boyfriend who is being treated for drug addiction. At the time of admission, the patient was emotionally disturbed, tearful, and periodically aroused. After two days of hospitalization girl was discharged home under mother’s protection. Three months later, 16 years old patient was admitted to the hospital again, because of intoxication with psychoactive substances and self-injuries. After three days of hospitalization, she was transferred to psychiatric hospital for further therapy. We can indicate methadone use not only as methadone’s level in urine, but also as EDDP, methadone’s metabolite concentration in urine. Every person with symptoms of behavioural disorder should be as fast as possible be examined by psychiatrist and psychologist, to avoid suicide attempts

Patient with depression poisoned with psychopharmaceutics and ethanol – case report

In Poland in 2016, there were almost 10,000 suicide attempts, in which about 55% ended up with death. Suicidal attempts are more often taken by women, but they are more effective in the case of men. Most of these people are afflicted with mental illness such as depression. A 49 year old man was admitted to Cardiology and Toxicology Department, because of poisoning with antipsychotic drugs and ethanol. It was his second suicide attempt. The day he was admitted to the hospital he was in serious condition. Patient was monitored, symptomatic treatment and pharmacotherapy were initiated. The patient required intubation and the use of respiratory therapy because of breathing problems. In the clinical study and imaging examinations massive pneumonia, was confirmed. His pharmacotherapy was modified and the antibiotics were given because of inflammation of a lungs. For patients poisoned by various substances, respiratory failure often has a complex medium. It may result from the depression itself of the xenobiotics on the respiratory system, the influence of the indirect mechanism of breathing or the result of aspiration and development of pneumonia. In therapy the most important is the monitoring of the patient's condition, electrolyte imbalance and symptomatic treatment. In a few cases and only for some drugs, we can use a specific antidote

A problem of multiple drug overdose by patient with schizophrenia - case report

Introduction Suicidal risk caused by drug overdose is a considerable factor influencing earlier mortality among people with schizophrenia. An adjustment of effective pharmacological treatment is essential to sustain the stability of the patient. Commonly, the treatment divides to two groups: first generation antipsychotics (FGA) and second-generation antipsychotics (SGA). Yet, due to significant risk of depression and possible side effects of the drugs, other medicaments should also be introduced. Case report A 38 years old woman that was repeatedly hospitalized at the local ward, brought by ambulance and admitted to the Clinical Toxicology Department. She was admitted to the department for 20th time in period between April 2013 and May 2019 due to deliberate drug overdoses. During last hospitalization laboratory tests indicated presence of valproic acid (121,41 μg/ml). Moreover, psychiatric consultation revealed that although she was balanced state, she was not critical about her behavior. Patient was diagnosed with schizophrenia and mild intellectual disability. Each time, the intoxication was followed by medications from group of antipsychotics and tranquilizers used in treatment of the illness. Additionally, she confirmed that some of intoxications had suicidal attempt. 60% of hospitalizations of the patient were followed by stay in Neuropsychiatric hospital for further observation and treatment. Conclusion The administration of proper dosage of antipsychotics should be precisely controlled by the psychiatrist that takes care of the patient. For patients with greater suicidal risk, SGA are more recommended than FGA. Moreover, drugs from other groups such as antidepressants should also be introduced. Undoubtedly, efficient pharmacological treatment should be supported by psychotherapy of the patient

The use of tamoxifen in the treatment and prevention of breast cancer

Breast cancer is the most frequently occurring malignant neoplasm among women. Statistically, it constitutes 22,8% of all malignant neoplasms among females. Despite the fact that the causes of the disease remain unknown, a few risk factors are contributing to its development. Age, family history, type of lifestyle, hormones and genetic background have a significant association with occurrence of breast cancer. Due to the fact that time in which female sex hormones affect mammary gland is one of the most important risk factors of breast cancer development, more researchers focused on the use of drugs such as selective estrogen receptor modulators (SERMs) in the disease prevention. Tamoxifen has antiestrogenic effect. That results in the inhibition of both- growth factors release and synthesis by the tumour. Moreover, this drug works as agonist, replacing oestrogen to many tissues, such as the ones in liver, bone, breast and uterus. In the literature there are many reports about the effectiveness of tamoxifen in the prevention of breast cancer. The drug, in addition to using it as adjuvant therapy for breast cancer, can be used as a prophylactic of the disease. Side effects of the drug are rare, but they can not be completely excluded. Breast cancer, which is currently the most common tumour in the globe, is a serious worldwide public health quandary. Tamoxifen is considered to be a pioneering drug as it is used in combined breast cancer therapy and also in chemoprophylaxis ,but every case of using the medicine should be considered individually to assess benefit-risk ratio