Giant recurrent perineal endometriosis in an episiotomy scar – a case report

The occurrence of perineal endometriotic lesions can be explained by mechanical dissemination and transplantation of endometrial cells. Viable decidual endometrial cells are likely to be transplanted into the episiotomy wounds or perineal tears during normal vaginal delivery and subsequent growth may occur. A case of a 33-year old woman with a medical history of recurrent perineal endometriosis was described. An endometriotic giant mass (8 centimeter in diameter) was wide-excised, together with the episiotomy scar. The recovery was uneventful. Three years after the surgery, the patient is symptom-free and with no signs of recurrence or discomfort. According to the literature and our own experience, a complete excision of endometriotic tissue is the treatment of choice. We can conclude that a wide excision is mandatory as it is the only way to prevent tumor recurrence

Immunoexpression of androgen receptors and aromatase in testes of patient with Klinefelter's syndrome.

Klinefelter's syndrome (47, XXY) is the most common chromosome aneuploidy in men and is usually characterized by underdeveloped testes and sterility. The aim of the present study was to detect cellular distribution of androgen receptors (AR) and aromatase in testes of patient with KS. The tissue sections were processed for morphological and immunohistochemical staining. Additionally, levels of FSH, LH, PRL, estradiol, and testosterone were measured in the plasma. Morphological analysis revealed a complete absence of spermatogenesis. No germ cells were present in seminiferous tubules. In some tubules, nests of apparently degenerating Sertoli cells were found. In the interstitium, Leydig cell hyperplasia was observed. Using immunohistochemistry, nuclear AR staining was detected in Sertoli cells and peritubular cells, whereas in Leydig cells the staining was exclusively cytoplasmic. The immunostaining of aromatase was detected in the cytoplasm of Sertoli cells and Leydig cells. Increased levels of gonadotropins and decreased level of testosterone concomitantly with the cytoplasmic localization of AR in Leydig cells might contribute to the impaired testicular function in patient with KS

CAEv–A program for computer aided evaluation

The evaluation of new reagents and instruments in clinical chemistry leads to complex studies with large volumes of data, which are difficult to handle. This paper presents the design and development of a program that supports an evaluator in the definition of a study, the generation of data structures, communication with the instrument (analyser), online and offline data capture and in the processing of the results. The program is called CAEv, and it runs on a standard PC under MS-DOS. Version 1 of the program was tested in a multicentre instrument evaluation. The concept and the necessary hardware and software are discussed. In addition, requirements for instrument/host communication are given. The application of the laboratory part of CAEv is described from the user's point of view. The design of the program allows users a high degree of flexibility in defining their own standards with regard to study protocol, and/or experiments, without loss of performance. CAEv's main advantages are a pre-programmed study protocol, easy handling of large volumes of data, an immediate validation of the experimental results and the statistical evaluation of the data

Current views on fetal surgical treatment of myelomeningocele — the Management of Myelomeningocele Study (MOMS) trial and Polish clinical experience

Abstract Myelomeningocele (MMC) is the most frequent congenital defect of the central nervous system for which there is no satisfactory alternative to postnatal treatment. On the contrary prenatal MMC surgery is conducting before birth and is aimed at protecting from Chiari II malformation. The main goal of fetal MMC repair is to improve development and life quality of children with Chiari II malformation. Management of Myelomeningocele Study (MOMS) which was published in 2011 clearly confirmed effectiveness of prenatal surgery. In this paper we compare MOMS results with our own clinical experience. Thanks to high effectiveness and significant improvement in safety of maternal-fetal surgery prenatal MMC surgery become a new standard of treatment.  Myelomeningocele (MMC) constitutes the most common congenital defect of the central nervous system, with no satisfactory alternative to the postnatal treatment. Prenatal repair of MMC is aimed at protecting from a Chiari type II malformation. The main goal of fetal MMC repair is to improve the development and quality of life in children with a Chiari type II malformation. The Management of Myelomeningocele Study (MOMS), which was published in 2011, confirmed the effectiveness of prenatal surgery. In this paper, we compared the MOMS results with our own clinical experience. Owing to high effectiveness and significant improvement in the safety of the maternal-fetal surgery, prenatal MMC repair has become a new standard of treatment

Open fetal surgery for myelomeningocele — is there the learning curve at reduction mother and fetal morbidity?

Objectives: We aimed to show how increased experience of a surgery team in fMMC repair influences maternal andfetal/neonatal outcomes.Material and methods: We compare perinatal results of fMMC repair in our Fetal Surgery Center (FSC) in cohort groups forthe early period (2005–2011 year; previous — PFSC, n = 46) and current period (2012–2015 year; current — CFSC, n = 74)to results of the randomized Management of Myelomeningocele Study (MOMS, 78 patients).Results: The maternal morbidity due to fMMC repair was low and there was no difference comparing CFSC to PFSC andMOMS. The frequency of iatrogenic preterm labor (iPTL) ≤ 30 weeks of gestation decreased from 34.1% in PFSC to 23.9%in CFSC. Iatrogenic preterm premature rupture of membranes (iPPROM) was a common complication after fMMC repair inall cohorts. The total reduction rate of hindbrain hernation (HH) was similar in CFSC — 90.3% and PFSC — 82.1%.Conclusions: The increasing experience of our surgery team in fMMC repair majorly decreased the risk of iPTL

Wrodzony przerost nadnerczy z niedoboru 21-hydroksylazy - problemy i postępowanie u dorosłych

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive hereditary diseases. The impairment of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone (ACTH), adrenal hyperplasia, and excessive androgen synthesis. The syndrome is characterised by a considerable correlation between the genotype and the phenotype with the type of CYP21A2 gene mutation affecting the severity of 21-hydroxylase deficiency. The clinical manifestations of CAH in adults result from adrenocortical and adrenomedullary insufficiency, hyperandrogenism, and the adverse effects of glucocorticosteroids used for the treatment of the condition. Non-classic CAH may sometimes be asymptomatic. In patients with classic CAH obesity, hyperinsulinaemia, insulin resistance, and hyperleptinaemia are more often seen than in the general population. These abnormalities promote the development of metabolic syndrome and its sequelae, including endothelial dysfunction, and cardiovascular disease. Long-term glucocorticosteroid treatment is also a known risk factor for osteoporosis. Patients with CAH require constant monitoring of biochemical parameters (17a-hydroxyprogesterone [17-OHP] and androstenedione), clinical parameters (body mass, waist circumference, blood pressure, glucose, and lipids), and bone mineral density by densitometry. The principal goal of treatment in adults with CAH is to improve quality of life, ensure that they remain fertile, reduce the manifestations of hyperandrogenisation in females, and minimise the adverse effects of glucocorticosteroid treatment. Patients with classic CAH require treatment with glucocorticosteroids and, in cases of salt wasting, also with a mineralocorticosteroid. Radical measures, such as bilateral adrenalectomy, are very rarely needed. Asymptomatic patients with non-classic CAH require monitoring: treatment is not always necessary. Medical care for patients with CAH should be provided by reference centres, as the management of such patients requires collaboration between an endocrinologist, diabetologist, gynaecologist, andrologist, urologist, and psychologist.Wrodzony przerost nadnerczy (CAH, congenital adrenal hyperplasia) z niedoboru 21-hydroksylazy jest jedną z najczęstszych chorób dziedziczonych w sposób autosomalny recesywny. Upośledzenie syntezy kortyzolu doprowadza do nadmiernej stymulacji nadnerczy przez ACTH, przerostu nadnerczy i nadmiernej syntezy androgenów. Zespół ten cechuje się dużą korelacją pomiędzy genotypem i fenotypem - rodzaj mutacji genu CYP21A2 wpływa na stopień niedoboru 21-hydroksylazy. Objawy kliniczne w klasycznych postaciach CAH u dorosłych wynikają z: niedoczynności kory i rdzenia nadnerczy, hiperandrogenizmu oraz działań ubocznych stosowanych w leczeniu glikokortykosteroidów. Postać nieklasyczna może czasem przebiegać bezobjawowo. U pacjentów z klasyczną postacią CAH częściej niż w normalnej populacji stwierdza się otyłość, hiperinsulinizm i insulinooporność oraz hiperleptynemię. Nieprawidłowości te sprzyjają rozwojowi zespołu metabolicznego i jego konsekwencjom, w tym dysfunkcji śródbłonka i rozwojowi chorób sercowo-naczyniowych. Przewlekłe leczenie glikokortykosteroidami jest także znanym czynnikiem ryzyka rozwoju osteoporozy. Chorzy z CAH wymagają stałego monitorowania zarówno parametrów biochemicznych (17-OHP i androstendionu), jak i klinicznych (kontrola masy ciała, pomiary obwodu talii, ciśnienia tętniczego, glikemii, lipidogramu) oraz densytometrycznej oceny gęstości mineralnej kości. Podstawowym celem leczenia dorosłych chorych z CAH jest poprawa jakości życia, zapewnienie płodności, zmniejszenie objawów hiperandrogenizacji u kobiet oraz minimalizacja objawów niepożądanych glikokortykosteroidoterapii. Pacjenci z postacią klasyczną wymagają leczenia glikokortykosteroidami, a w przypadkach przebiegających z utratą soli także mineralokortykosteroidem. Niezwykle rzadko konieczne jest zastosowanie radykalnego postępowania, jakim jest obustronna adrenalektomia. Pacjenci z postacią nieklasyczną, z brakiem objawów klinicznych wymagają obserwacji, leczenie natomiast nie zawsze jest konieczne. Opieka nad dorosłymi chorymi z CAH powinna być prowadzona w ośrodkach referencyjnych, ponieważ wymaga współpracy endokrynologa, diabetologa, ginekologa, androloga, urologa i psychologa. (Endokrynol Pol 2010; 61 (1): 142-155

The ALICE TPC, a large 3-dimensional tracking device with fast readout for ultra-high multiplicity events

The design, construction, and commissioning of the ALICE Time-Projection Chamber (TPC) is described. It is the main device for pattern recognition, tracking, and identification of charged particles in the ALICE experiment at the CERN LHC. The TPC is cylindrical in shape with a volume close to 90 m^3 and is operated in a 0.5 T solenoidal magnetic field parallel to its axis. In this paper we describe in detail the design considerations for this detector for operation in the extreme multiplicity environment of central Pb--Pb collisions at LHC energy. The implementation of the resulting requirements into hardware (field cage, read-out chambers, electronics), infrastructure (gas and cooling system, laser-calibration system), and software led to many technical innovations which are described along with a presentation of all the major components of the detector, as currently realized. We also report on the performance achieved after completion of the first round of stand-alone calibration runs and demonstrate results close to those specified in the TPC Technical Design Report.Comment: 55 pages, 82 figure

Multicentre evaluation of the Boehringer Mannheim / Hitachi 911 Analysis System

The analytical performance and practicability of the Boehringer Mannheim (BM)/mtaci 91 analysis system have been assessed in a multicentre evaluation, which involved six laboratories from European countries. Analytes commonly used in classical clinical chemistry were tested in a core programme, which mainlyfollowed lhe ECCLS guidelines. In addition, a satellite programme covered other analytes, such as proteins, drugs and urine analytes. In total, the study comprised more than 100 000 data items collected over a three-month period. The evaluation was supported with 'Computer Aided Evaluation' (CAEv) and telecommunications. Acceptance criteria for the results were established at the beginning ofthe study. Nearly all ofthe analytes met the imprecision limits.' within-run imprecision (as CVs) was 2l/ofor enzyme and substrate assays, l%for ISE methods and 5l/o for immunoassays; between-day imprecision was 3l/ofor enzyme and substrate assays, 2o//o for ISE methods and 10% for immunoassays