[Family form of nephrogenic X-linked diabetes indiabetes].

There is a global trend towards an increase in the prevalence of diabetes insipidus. Symptoms of nephrogenic diabetes insipidus with X-linked inheritance appear in men, in women with heterozygous mutations, are characterized by an isolated symptom complex of polyuria, polydipsia, hypostenuria. In children, more often than in adults, with fluid restriction, a clinic of water-deficient dehydration develops with hypernatremia, hyperthermia, and plasma hyperosmolality. This manuscript presents a case of Nephrogenic diabetes insipidus, X-linked familial form in male patients.At the same time, in the family along the female line, the mother and grandmother also had an increased need for water, the use of minirin was ineffective. In the older brother and younger brother, clinical manifestations of diabetes insipidus in the form of severe thirst and polyuria were noted from infancy, after the examination, the diagnosis was made - diabetes insipidus and desmopressin was prescribed.Due to the lack of effect from the use of desmopressin, the analysis of exons and adjacent sections of the introns of the AQP2 and AVPR2 genes was carried out by PCR and subsequent direct sequencing. No mutations were found in the AQP2 gene. The hemizygous substitution S315I was found in the AVPR2 gene. The familial form X was confirmed - linked nephrogenic diabetes insipidus. A hypothiazide was recommended, against the background of constant intake of which only a slight positive trend is observed.

[Salvage lymphadenectomy in patients with prostate cancer recurrence: A review]. / Salvagelymphadenektomie beim Rezidiv eines Prostatakarzinoms : Eine Übersicht.

BACKGROUND: Salvage extended pelvic lymph node dissection (salvage ePLND) in patients with prostate cancer (PCa) biochemical recurrence is an alternative to the commonly used androgen deprivation therapy (ADT) and/or chemotherapy. Small patient number, insufficient accuracy of contemporary imaging methods for lymph node relapse diagnostics, and the lack of prospective data present limiting factors for a wider application of salvage ePLND. The purpose of this publication is to review German and European data and studies on the subject of salvage ePLND and to discuss future perspectives. MATERIALS AND METHODS: We analyzed available studies up to October 2014 from Medline with the keywords "salvage lymph node dissection prostate cancer". RESULTS: A total of 51 publications since 1984 (up to October 2014) meeting the search criteria were found. Ten of these were studies that analyzed the results of salvage ePLND. Of these 10 studies, 6 originated from German clinics. Furthermore, among these 51 publications, there were 2 clinical case reports (1 from Germany) and 3 reviews (none from Germany). CONCLUSIONS: The available data show insufficient evidence-based validity. There have been no prospective studies and just one multicenter study. However, single-center retrospective studies have shown promising results. Salvage ePLND leads to biochemical remission, freedom from clinical recurrence, and probably also to renewed response to ADT in patients with castration-resistant PCa. Multicenter prospective studies should be conducted in Germany (where most of the available studies have been performed). The selection of patients should be analyzed in order to identify clear selection criteria for salvage ePLND.

[A serious complication after bladder embolisation due to massive tissue necrosis in the gluteal region]. / Eine schwerwiegende Komplikation in Form massiver Gewebenekrosen in der glutealen Region nach Embolisation der Harnblase.

Adequate and successful treatment of Hb-relevant macrohaematuria in bladder cancer patients is a frequent problem in clinical routine. It is often not easy to identify a good treatment option for inoperable older patients. A possible option is transcatheter-based arterial embolisation of the vesical artery. Unfortunately there are only few publications about this procedure; a detailed analysis of bladder embolisation is difficult to find in the literature. Our report illustrates the embolisation of the vesical artery in an 84-year-old patient with bladder cancer with an Hb-relevant, transurethral non-curable macrohaematuria. Massive necrosis of the M. gluteus maximus developed after embolisation of the vesical artery. During the ensuing surgery, the entire musculature of the gluteal region was removed, and the N. ischiadicus was cut. The patient was supervised first in the intensive care and then in the palliative care ward. The patient's prognosis is unfavourable due to the localisation and size of the wound and consecutive life-long immobility. Embolisation of the vesical artery is a viable procedure, but only if alternative therapeutic strategies are impossible. It should only be performed by an experienced radiologist and it is strongly recommended not to apply liquid embolisation agents. Inadequate embolisation of the vesical artery can lead to extensive necrosis. Radiological diagnostics help to identify the margins of the necrotic region. During the intervention, maximum attention should be paid to saving the entirety of N. ischiadicus, especially in patients with large necrotic areas.

[Extended salvage pelvic and retroperitoneal lymph node dissection due to prostate cancer relapse]. / Ausgedehnte Salvage-Lymphknotenentfernung aus Becken- und Retroperitoneum bei Prostatakarzinomrezidiv.

Treatment of a biochemical prostate cancer relapse represents a difficult clinical dilemma, which has remained without a definitive solution so far. Based on clinical studies, we combine radical prostatectomy with extended pelvic lymph node dissection in intermediate and high risk patients as a routine procedure at our clinic. In this paper, we report on a case of extended salvage lymphadenectomy performed due to biochemical prostate cancer recurrence. The 56-year-old patient came to our clinic in April 2012 with a finding of lymph node metastasis according to PET-CT imaging. Laparoscopic radical retropubic prostatectomy with lymphadenectomy had been performed in 2008 [pT3a, N0 (0/4), M0, R0, GS 5+4=9, iPSA 26.67 ng/mL], and followed by radiotherapy as of September 2009. The extended salvage lymphadenectomy was performed in April 2012 due to a PSA-level rise up to 24 ng/mL and the aforementioned PET-CT findings. A total of 22 lymph nodes were removed, among them 3 lymph nodes with metastases. In the fossa obturatoria on the right we identified a walnut-size lymph node relapse with tumour necrosis, which fully corresponded to the PET-CT scan. The PSA level subsequently dropped to 0.4 ng/mL postoperatively, and further to the current value of 0.02 ng/mL (August 2012).

[Use of the exogenous surfactant curosurf in combined therapy for acute respiratory failure in children after cardiosurgical interventions].

This study was undertaken to evaluate the effectiveness and safety of use of an exogenous surfactant in combined therapy for acute respiratory failure in children after cardiac surgery. In 2003 to 2004, the A. N. Bakulev Research Center of Cardiovascular Surgery, Russian Academy of Medical Sciences, used Curosurf in 58 infants undergone cardiac surgery. The infants' age ranged from 1 day to 27 months (4.6 +/- 0.75 months); the body weight was 1.1 to 14.8 kg (4.9 +/- 0.69 kg). According to the indications for replacement therapy with Curosurf, all the patients were divided into 4 groups: 1) 19 patients with acute pulmonary lesion syndrome; 2) 12 patients with bilateral pneumonia; 3) 22 infants with recurrent atelectases, and 4) 5 patients with paresis of the cupula of the diaphragm. Group 1 patients receiving the exogenous surfactant showed a significant increase in oxygenation and Cdyn, which allowed a significant reduction in the level of respiratory support. Group 2 patients were found to have similar changes, less pronounced as they were, in gas exchange and the mechanics of respiration. In most patients with recurrent atelectases, a steady-state smoothing-out of the latter could be achieved. In Group 4 patients, the exogenous surfactant did not affect the duration of artificial ventilation. Complications due to the administration of the exogenous surfactant (pneumothorax, short-term blood desaturation) were encountered rarely and readily arrested. As a whole, Curosurf is an effective component of combined intensive therapy for acute respiratory failure in pediatric cardiosurgery.

Medico-genetic and cytogenetic investigation in family with high predisposition to diffuse intestine polyposis.

We revealed a family consisting of 25 persons which displayed high predisposition to malignant diseases of the gastrointestinal tract (GIT): rectal cancer (RC) was diagnosed in 2 patients, large intestine malignant polyposis (LIMP) in 1 patient, large intestine diffuse polyposis (LIDP) in 3 and uterus fibromyoma in 1 patient. Six members of the family were examined cytogenetically with the methaphase method on blood lymphocytes following G-banding of chromosomes. In 2 patients with LIDP was detected 8.7 and 16.7% of hyperaneuploid cells, respectively, and 20% of cells with double minute chromosomes (DMS) were detected in 1 LIDP patient. We suppose, that LIDP development in members of the family is related to the significant increase of proportion of hyperaneuploid and DMS-containing cells.

[Clinical and cytogenetic investigation of a family with high predisposition for intestinal polyps]. / Mediko-geneticheskoe i tsitogeneticheskoe issledovanie sem'i s vysokoi predraspolozhennost'iu k polipozu kishechnika.

A medico-genetic investigation of a family, consisting of 25 members, revealed high predisposition to malignant pathology of the gastrointestinal tract: rectal cancer was diagnosed in 2, malignant polyposis of the large intestine--1, diffuse polyposis of the large intestine (DPLI)--3, and uterine fibromyoma--in 1 patient. Six members underwent a cytogenetic examination using the metaphase method for peripheral blood lymphocytes and G-banding of chromosomes. Two patients with DPLI carried 8.7 and 16.7% of hyperaneuploid cells and one--20% of cells with double minute chromosomes (DMS). It is suggested that formation and subsequent significant increase in hyperaneuploid and DMS cells could have been responsible for DPLI development in the family.

[Effectiveness of combined resection and exenteration of the pelvic organs as part of the comprehensive treatment of extensive malignancies of the rectum and female genitals]. / Effektivnost' kombinirovannykh rezektsii i ékzenteratsii organov malogo taza kak étapa kompleksnogo lecheniia rasprostranennykh opukholei priamoi kishki i zhenskikh genitalii.

The results of the surgical treatment of 865 patients with extended malignancies of the rectum and female genitals are presented. Combined resection and exenteration of organs of the small pelvis (both radical and palliative to ensure cytoreduction of tumor) were carried out in 695 cases (palliative surgery for symptoms--170). The number of resections and sphincter-saving operations has increased while the lethality rates have dropped in recent years. Three-year survival after combined radical surgery for rectal cancer was 59.1%; five-year survival--49% (palliation with removal of distant metastases--26.0 and 14.8%; without removal--24.2 and 0%, respectively; palliative surgery for symptoms--2.3 and 0%, respectively). In cases of palliative surgery for cytoreduction of tumor of the female genitals, 3- and 5-year survival after removal of all distant foci was 66.2 and 54.1%; partial cytoreduction--42.2 and 28.8%, and surgery for symptoms--13.8 and 13.8%, respectively. Cytoreduction improved both the chances and efficacy of adjuvant radio- and chemotherapy. It is suggested that surgery be included as a component of complex treatment of malignancies; combined cytoreduction is fully justified even if its effect is merely palliative.

[Intestinal obstruction in disseminated malignant tumors of the female genitalia: the surgical procedure and combined operations]. / Kishechnaia neprokhodimost' pri rasprostranennykh zlokachestvennykh opukholiakh zhenskikh polovykh organov: khirurgicheskaia taktika i kombinirovannye operatsii.

Results of surgical treatment of 103 patients are presented who had spread malignant tumors of the female genitalia with the involvement of different segments of the intestine and urinary tract, and damaged intestinal passage. Combined operations were performed on 57 patients (55.3%), palliative--46 patients (44.7%) 54 patients were operated on urgently. For the last 10 years resectability has been increased 8.5 times owing to active surgical policy. Immediate lethality after combined operations was 10.5%. Cumulative indices of 3- and 5-year survival were 66% and 53.3% respectively. Lethality and 5-year survival after palliative operations were 30.4% and 13.8% respectively. Combined operations for cancer of female genitalia (both primary and recurrent ones and metastases) are quite reasonable in order to provide the optimum volume of cytoreduction and perform chemo- and radiation treatment.

[Experimental tests and clinical trials of the biologically active food additive Fibromed]. / Eksperimental'naia i klinicheskaia aprobatsiia biologicheski aktivnoi dobavki k pishche Fibromed.

A biologically active food additive--Fibromed--has been tested experimentally and clinically. The additive made from wheat bran by the Reacon Company contains no less than 40% of dietary fibre (cellulose, hemicellulose and lignin). Its effect on multi-organ carcinogenesis induced by N-methyl-N-nitrosourea (MNU) and lipid metabolism was tested in rats. Tumors were induced by combined intramammary injections and intrarectal infusions of the agent. Fibromed was fed (20% by weight) during post-initiation period. It effectively inhibited the development of mammary and colonic tumors and reduced serum-blood cholesterol, triglycerides and beta-lipoproteids. The influence of Fibromed treatment on stool during early post-operative period was studied in surgical cases of colorectal cancer. When administered in a dose of 60 g, daily, starting from days 4-5, Fibromed restored intestinal function 36 hr earlier than in controls. Fibromed should be recommended for prevention of breast and colonic tumors, lipid metabolism disorders and rehabilitation of patients who underwent surgery for colorectal cancer.

[Current approaches to radical surgical and combined treatment of rectal cancer]. / Sovremennye podkhody k radikal'nomu khirurgicheskomu i kombinirovannomu lecheniiu raka priamoi kishki.

The article gives an analysis of the 30 years experiences with treatment of more than 3200 patients with rectum cancer at a specialized oncological department. Postoperative lethality was 7.3%. In recent years this figure has been decreased (5.2%). The individual programs of treatment were associated with the degree of growing the tumor through the bowel wall and with the metastatic damage of the regional lymph nodes. These factors show that careful as well as extended and combined operations are justified. The advantages of combined methods of treatment and functionally saving surgical interventions have been revealed.