Dorosły z rzadkim schorzeniem genetycznym - diagnostyka i terapia zespołu Cornelii de Lange

Zespół Cornelii de Lange (CdLS, OMIM 122470) jest rzadkim genetycznie uwarunkowanym schorzeniem. Do podstawowych cech klinicznych tego zespołu należą: charakterystyczna dysmorfia twarzy, pre- i postnatalne zaburzenie wzrostu, opóźnienie rozwoju psychomotorycznego znacznego stopnia, wady rozwojowe kończyn, serca, narządu wzroku, układu moczowo-płciowego oraz zaburzenia żołądkowo-jelitowe. Charakterystyczny fenotyp obecny w dzieciństwie zmienia się z wiekiem, co utrudnia rozpoznanie tego zespołu u osób dorosłych, zwłaszcza w przypadku braku wad rozwojowych kończyn. U większości chorych stwierdza się także zaburzenia funkcji przewodu pokarmowego - przede wszystkim refluks żołądkowo-przełykowy. Część chorych wymaga chirurgicznych zabiegów antyrefluksowych mimo stosowanego od wczesnego dzieciństwa leczenia zachowawczego. Poza tym większość chorych wykazuje umiarkowany lub głęboki stopień upośledzenia umysłowego, a objawy nadpobudliwości, autoagresji, zachowania autystyczne nasilają się z wiekiem. Obserwowany brak lub ubogi zakres mowy nie zawsze mają związek z niedosłuchem. Obserwuje się wyraźnie przedwczesne starzenie się osób z CdLS. W Gdańskim Uniwersytecie Medycznym działa system wielospecjalistycznej opieki nad pacjentami z CdLS. Wielonarządowy charakter zaburzeń nakazuje bowiem objęcie dorosłych z CdLS wielospecjalistyczną opieką, co pozwoli nie tylko przedłużyć życie pacjentów, ale zapewnić im większy jego komfort. Forum Medycyny Rodzinnej 2010, tom 4, nr 4, 273-28

Clinical use of redox biomarkers for diagnosis of male infertility

The aim of the study was to analyze the activity of antioxidant enzymes (glutathione reductase, catalase, superoxide dismutase) and malondialdehyde (MDA) levels in a population of men with abnormal semen parameters and in a population of men diagnosed with normozoospermia. This study was performed using data collected at the Infertility Treatment Clinic ‚Genesis’ , Bydgoszcz, Poland, between 1 January 2011 and 31 December 2017. A total number of 321 men meeting the inclusion criteria were selected and divided into the control group (162 men) and the infertility group (159 men). The activities of superoxide dismutase (SOD), catalase (CAT), and glutathione reductase (GR) were measured using ready-made kits; lipid peroxidation intensity was determined by the thiobarbituric acid method. No statistically significant differences were found for the activity of SOD, GR, CAT between the groups. MDA values measured in the serum of patients in the healthy group were higher than in the group with semenological disorders. Although our study did not demonstrate the usefulness of the above blood tests, further studies are needed to explore the potential use of assessing redox parameters to develop new diagnostic and therapeutic approaches for male infertility

Analysis of Factors Influencing Patient Satisfaction with Hospital Treatment at the Surgical Department

The aim of the study was to determine factors responsible for patient satisfaction after treatment at the surgical department.Material and methods. The study was conducted in six health care units, which were divided into two groups: Group I: 3 hospitals with the number of beds exceeding 400, and Group II: 3 hospitals with the number of beds below 400. The study group comprised 180 patients, 30 from each of the hospitals. The authors' used the Servqual method and questionnaire with 30 questions relating to five areas characteristic of medical service. Apart from the above-mentioned we also took into consideration hospital personnel: their qualifications and salary, hospital equipment, patient hospitalization costs, and indicated by the patient - the reason for his/her satisfaction or dissatisfaction with hospitalization. Results were subject to statistical analysis.Results. The results indicated that the factors pertaining to costs, especially those related to living conditions and also those related to empathy, personnel competence, and their communication with the patient had very significant influence on patient satisfaction with his/her hospitalization. Fulfilling the patient's needs considering the functional quality increases the patient's comfort, and as a consequence translates into satisfaction with the hospitalization.Conclusions. Considering both groups of hospitals the surgical departments did not entirely fulfill the patient's expectations, and there is a need for improvement in this area. The main reason for the negative feelings of patients included worse than expected living conditions, sporadic contact with physicians and lack of information concerning the course of therapy

Bispectral index and cerebral oximetry in low-flow and high-flow rate anaesthesia during laparoscopic cholecystectomy – a randomized controlled trial

Introduction: The need to reduce pollution emissions in the operating room and to reduce treatment costs motivatesmore frequent use of general anaesthesia with a small or minimal fresh gas flow rate. Nevertheless, the reduction ofthe delivery of fresh gases should not influence the quality and safety of the anaesthesia. Material and methods: A total of 105 elective laparoscopic cholecystectomy patients were included in the study. Therewere 72 female (68.6%) and 33 male (31.4%) patients. Patients were randomized by a ‘closed envelope’ method intotwo groups. Group I included patients with low-flow anaesthesia and group II included patients with high-flow anaesthesia.In all patients the cerebral oximetry was measured separately for each cerebral hemisphere; the bispectralindex (BIS), heart rate, blood pressure, end-tidal carbon dioxide concentration and haemoglobin oxygen saturationwere monitored. Results: Heart rate, blood pressure, end-tidal carbon dioxide concentration and saturation were similar in both groupsand the differences between them were statistically insignificant. The BIS values were similar in both groups and indicatedthat patients who underwent low-flow anaesthesia were not exposed to a higher risk of awakening during theprocedure than the high-flow anaesthesia patients. The changes in brain oximetry values were similar in both lowflowand high-flow anaesthesia. Conclusions: Use of both low-flow and high-flow rate general anaesthesia provided patients undergoing laparoscopiccholecystectomy proper oxygenation of the central nervous system, adequate sleep depth and haemodynamic stability

The Role and Place of Antioxidants in the Treatment of Male Infertility Caused by Varicocele

The inability to become pregnant for at least 1 year despite regular unprotected intercourse may indicate infertility of one or both partners. This problem affects approximately 10–20% of couples worldwide, regardless of race, with male infertility reported to account for 25–60% of cases. Among the most common pathological causes of male infertility is the presence of varicocele and chronic infections of the male reproductive system. This study was performed using data collected at the Genesis Infertility Treatment Clinic, Bydgoszcz, Poland, between 1 January 2015 and 30 June 2017. A total of 163 men meeting the inclusion criteria were selected and divided into the idiopathic infertility group (78 men) and varicocele-related infertility group (85 men). All patients received treatment with a male fertility supplement containing a combination of 1725 mg of L-carnitine fumarate, 500 mg of acetyl-L-carnitine, 90 mg of vitamin C, 20 mg of coenzyme Q10, 10 mg of zinc, 200 µg of folic acid, 50 µg of selenium, and 1.5 µg of vitamin B12 (Proxeed® Plus, Sigma-Tau, Italy) twice a day for a period of 6 months from the time of the diagnosis of infertility. The treatment resulted in significant improvements in general semen parameters, particularly sperm count, sperm concentration, total motility, and progressive motility. This antioxidant therapy produced a particularly marked therapeutic benefit in patients with Grade III varicocele, with a greater improvement in progressive motility than in men with less severe or no varicocele. The use of the antioxidant preparation examined here seems reasonable in men with idiopathic infertility and as an adjuvant in those with varicocele-related infertility in whom surgical treatment has resulted in no improvement. Its use should be considered particularly in patients with Grade III varicocele who do not wish to undergo surgical treatment or in whom such a treatment is not possible for various reasons