New mutation causing androgen insensitivity syndrome - a case report and review of literature.

Androgen insensitivity syndrome (AIS) is a congenital disorder in which a defect in the androgen receptor (AR) gene leads to cellular resistance to androgens. Defects in the AR gene, located on the X chromosome, result in the development of a feminine phenotype in chromosomally male (46, XY) individuals. In this case report, we present a 44 years old patient with complete androgen insensitivity syndrome (CAIS) initially presenting with primary amenorrhea. The patient underwent a full clinical evaluation, revealing hypoplastic vagina and a lack of uterus and ovaries. Hormonal evaluation revealed markedly elevated testosterone, FSH, and LH serum concentrations. Diagnostic imaging, including pelvic MRI, confirmed the presence of two solid masses in the inguinal canals (right 26 × 13 mm, left 25 × 15 mm). The patient underwent genetic testing, revealing a 46 XY karyotype and an as of yet unprecedented androgen receptor mutation. The type of the mutation was a single-base exchange - the substitution from cytosine to thymine in chromosome X:66942710 position (referred to human reference genome GRCh37), which has resulted in an amino acid changes from leucine (CTT) to phenyloalanine (TTT) in ligand-binding domain.

[The results of treatment of gastric cancer in the Provincial Hospital in Zielona Góra]. / Wyniki leczenia raka zoladka w Szpitalu Wojewódzkim w Zielonej Górze.

INTRODUCTION: Gastric cancer is the third leading cause of death from cancer worldwide in both sexes, following lung and breast cancer. The incidence of gastric cancer in Poland is approximately 5% in men and approximately 2.5% in women, among the complete incidence of cancers. Deaths from gastric cancer in men in Poland in 2009 amounted to 6.6%, while in women--4.6%. The highest mortality rate in men is observed in the Lubuskie, Podkarpackie, Slaskie and Opolskie provinces. European average 5-year survival in the EUROCARE-4 study is 24.5%. AIM: The aim of this paper was to assess the treatment of gastric cancer in the Department of General and Oncological Surgery of the Provincial Hospital in Zielona Góra. MATERIALS AND METHODS: The retrospective analysis of 109 patients with gastric cancer, operated in the years 2003-2007, was performed. The analysis included patients scheduled for admission with the histopathological confirmation of adenocarcinoma, prepared to and subjected to laparotomy. The post-operative intrahospital deaths were estimated up to 30 days after surgery. The analysis of the survival rates was performed up to 1, 6, 12, 36 and 60 months since lapatoromy. All the continuous variables with the standard distribution were expressed as the mean ± standard deviation, while the total survival rates were assessed by means of the Kaplan-Meier method. RESULTS: 55 patients (50.5%) underwent the radical surgical procedure intended to cure them. The remaining 54 patients (49.5%) could not be qualified for the radical surgical procedures. In 35 cases (32%) underwent laparotomy with biopsy, in 19 cases (17%) palliative surgery (intestinal bypass, gastrostomy, palliative resection). Out of 55 patients underwent the radical surgical procedure 9 patients died after the procedure (16.4%). The survival rates calculated for all the patients revealed that 21.1% patients survived 5 years after the surgery. CONCLUSIONS: Almost a half of the patients (49.5%) who were admitted for treatment had an advanced stage of the disease that could not be qualified for the radical surgical procedures. The distant results of surgical treatment are non-satisfactory due to the fact that the disease was so advanced. 5-year-long survival rates (21.1% in our data) are higher that the ones listed in the EUROCARE-4 test for Poland (14.4%), but lower than the European average (24.5%).

The influence of tobacco smoke exposure on selected markers of oxidative stress, kidneys and liver function in the serum of rats with streptozotocin-induced diabetes.

BACKGROUND: The significance of the free radicals is emphasized in the pathophysiology of diabetes and the progression of chronic diabetic complications. Smoking cigarettes increases the risk of developing type II diabetes and intensifies pathophysiological processes during the development of type I diabetes. Tobacco smoke is also additional source of free radicals. Moreover, smoking causes variety of adverse effects on organs, that have no direct contact with the tobacco smoke itself. The objective of the study was to examine the effects of tobacco smoke on the serum concentrations of relevant oxidative stress markers such as total protein (TP), reduced glutathione (GSH), glutathione S-transferase (GST) and thiobarbituric acid reactive substances (TBARS), as well as renal (creatinine, urea) and liver function (alkaline phosphatase, ALP; alanine aminotransferase, ALT; aspartate aminotransferase, AST) among animals with induced diabetes after administration of a single dose of streptozotocin (65 mg/kg, ip). METHODS: The markers of oxidative stress and biochemical parameters were determined using spectrophotometric methods. As a biomarker of exposure to tobacco smoke, cotinine was determined using high-performance liquid chromatography with diode array detection (HPLC-DAD). RESULTS: Tobacco smoke exposure of diabetic rats was manifested by significantly elevated liver enzymes activity - ALT (p < 0.05) and ALP (p < 0.01), higher creatinine and urea concentration (p < 0.01), lower GSH amount (p < 0.05), and higher GST activity (p < 0.05). CONCLUSIONS: Tobacco smoking induce liver and renal damage through the mechanisms including increased oxidative stress.

Assessment of the Results of Surgical Treatment of Zenker'S Diverticulum in Own Material.

UNLABELLED: Zenker diverticulum (ZD) is the most common type of diverticula of the esophagus. Most often refers to men with a peak incidence in the seventh and eighth decade of life. In the majority diverticula remains asymptomatic and in patients with symptomatic course of the disease symptoms are often nonspecific. Aim of the study was to present the authors' own experience in surgical treatment of Zenker diverticulum. MATERIAL AND METHODS: In this paper we present an analysis of 31 patients with confirmed ZD treated surgically at the Clinic in 2004-2014. Patients were analyzed in terms of age, gender, clinical symptoms, diverticulum size, type of surgery, the time to return to the oral intake, hospital stay and perioperative complications. RESULTS: 22 men and 9 women were enrolled it this study. The mean age of the patients was 64.8 (SD, 10.7; in the range of 28 to 82 years). 29 patients (93.5%) underwent resection of the diverticulum, while diverticulopexy was performed in two patients. In 25 (80.6%) cases stapler device was used, while in 4 (12.9%) resection was performed manually. The average size of resected diverticulum was 4.9 cm (SD, 1.5). Following the surgery in four patients (12.9%) complications were present. The average operating time was 118.7 minutes (SD, 42.2, in the range of 50 to 240 minutes). The mean length of hospital stay was 9.3 (SD, 3.3). CONCLUSIONS: Surgical treatment of ZD is associated with high effectiveness and low recurrence rate. Despite the advantages of endoscopic techniques, surgical treatment is characterized by one- stage procedure. The use of mechanical suture (stapler) significantly improves the operation, although on the basis of our own analysis there was no superiority revealed over hand sewn. Unquestionable adventage of classical technique is the opportunity to histopathological evaluation of resected diverticulum what is impossible to achieve in endoscopic techniques.

Endoscopic vacuum-assisted closure system (E-VAC): case report and review of the literature.

Negative pressure wound therapy (NPWT) has become a standard in the treatment of chronic and difficult healing wounds. Negative pressure wound therapy is applied to the wound via a special vacuum-sealed sponge. Nowadays, the endoscopic vacuum-assisted wound closure system (E-VAC) has been proven to be an important alternative in patients with upper and lower intestinal leakage not responding to standard endoscopic and/or surgical treatment procedures. Endoscopic vacuum-assisted wound closure system provides perfect wound drainage and closure of various kinds of defect and promotes tissue granulation. Our experience has shown that E-VAC may significantly improve the morbidity and mortality rate. Moreover, E-VAC may be useful in a multidisciplinary approach - from upper gastrointestinal to rectal surgery complications. On the other hand, major limitations of the E-VAC system are the necessity of repeated endoscopic interventions and constant presence of well-trained staff. Further, large-cohort studies need to be performed to establish the applicability and effectiveness of E-VAC before routine widespread use can be recommended.

Portable VAC therapy improve the results of the treatment of the pilonidal sinus--randomized prospective study.

UNLABELLED: Multiple therapeutic approaches of the treatment of pilonidal sinuses have been described in the literature, but there are still controversies and lack of standardization. Vacuum Assisted Closure (VAC) therapy has potential beneficial effect on the wound healing after the sinus resection. THE AIM OF THE STUDY: To analyze the results of VAC therapy in the treatment of pilonidal sinuses. MATERIAL AND METHODS: After randomization in the control group (9 men) the simple excision of the pilonidal cyst was performed with the standard wound dressing. In the VAC group (10 men) the same surgical procedure was performed, but after the excision the VAC dressing with mobile VAC Freedom device was used. Both groups were treated in an outpatient setting under local anesthesia. The wound size, time of surgery, time of wound healing time of recovery and pain after the surgery (VAS score) were compared. RESULTS: In VAC treated group the wound size and time of surgery were similar to control group. Time of wound healing, recovery and the pain after surgery in days 4-7 were reduced in comparison to the standard treated group. CONCLUSIONS: VAC therapy can be easily used in an outpatient setting, mobile device is highly accepted, operation of the equipment is simple. VAC therapy significantly decreases the time of wound healing and absenteeism from work as well as the postoperative late pain.

Preliminary study with SprayShield™ Adhesion Barrier System in the prevention of abdominal adhesions.

INTRODUCTION: Peritoneal adhesions, the fibrotic bands that form between the surfaces in the peritoneal cavity following surgery, still pose a difficult clinical challenge. AIM: To evaluate the SprayShield™ Adhesion Barrier System (PEG ester amine solution and a buffer solution) in reducing post-operative adhesion formation. MATERIAL AND METHODS: This was a prospective, multi-center, randomized, single blind study. A total of 11 subjects diagnosed with ulcerative colitis (UC) or familial adenomatous polyposis (FAP) were randomized: 8 to the SprayShield™ arm and 3 to the control arm. SprayShield™ was applied on the viscera directly under the midline peritoneal incision and at the site of ileostomy. During the follow-up surgery, the incidence, extent, and severity of post-operative adhesion formation were evaluated, as well as the time required to mobilize the ileal loop. RESULTS: In patients who received SprayShield™ the time required to mobilize the ileal loop at the ileostomy closure was slightly shorter and the incidence and severity of adhesions were somewhat lower vs. control subjects (NS). CONCLUSIONS: SprayShield™ was found to be easy to use, safe, and quick to apply, and performed well in adherence and conformity. The incidence and severity of adhesions were lower for SprayShield™ subjects vs. control subjects, but due to the limited number of patients there are not enough data to confirm the effectiveness of the SprayShield™ Adhesion Barrier System in prevention of adhesions.

Strangulation of the stomach and the transverse colon following laparoscopic esophageal hiatal hernia repair.

The authors present a 32-year-old male patient with incarceration of a recurrent esophageal hiatal hernia after laparoscopic repair. A life-threatening strangulation of the stomach and the transverse colon occurred within a few days after the operation. Relapse of hiatal hernias amounts to almost half of early complications characteristic for the laparoscopic approach. General recommendations regarding surgical technique as well as perioperative care have been proposed in order to decrease the risk of relapse. Also, routine contrast radiology on the first or second day following the laparoscopic operation facilitates early diagnosis of relapse of hiatal hernia with emergent reoperation. This may result in decreased morbidity and improved overall outcome of the treatment.

Vacuum-assisted closure therapy in patients with large postoperative wounds complicated by multiple fistulas.

Vacuum-assisted closure (VAC) therapy is a widely acknowledged method for chronic and traumatic wound healing. The feasibility of VAC therapy used for the treatment of intestinal fistulas is still a subject of debate. Complex postoperative wounds pose significant therapeutic problems, especially when there are several fistula openings in the wound area and other sites, usually at the site of previous drains. This paper describes the treatment of three patients in a critical condition, with complex postoperative wounds complicated by multiple fistulas. Vacuum-assisted closure therapy was based on effective drainage of the biggest fistula opening and ensuring conditions promoting the healing process of other fistulas and the wound. A considerable improvement in general condition and wound healing was noted within 2-4 weeks and both the number of fistulas and the volume of excreted contents decreased. After 5-7 weeks a significant improvement in wound healing was observed in all patients. Once the general condition of all patients was considered satisfactory (2-6 months), they underwent surgery aimed at restoration of the digestive tract continuity.In our opinion, VAC therapy used for the treatment of postoperative wounds with multiple fistulas in the wound area and other sites should aim mainly at the improvement of patients' general condition, limitation of the number of fistulas as well as accelerated wound healing. This may lead to formation of one stoma-type fistula, which can be dressed and cared for by patients until the continuity of the digestive tract has been surgically restored.