A sexuação em pacientes com hiperplasia adrenal congênita por deficiência da 21-hidroxilase

Orientadora: Profª. Drª. Rosana Marques PereiraCoorientadora: Profª. Drª. Claire Terezinha LazzarettiDissertação (mestrado) - Universidade Federal do Paraná, Setor de Ciências da Saúde, Programa de Pós-Graduação em Saúde da Criança e do Adolescente. Defesa: Curitiba, 03/07/2015Inclui referências : f.150-156Área de concentração: Endocrinologia pediátrica - psicologiaResumo: A hiperplasia adrenal congênita (HAC) é um erro do metabolismo dos esteroides adrenais e causa distúrbio da diferenciação sexual com ambiguidade da genitália externa em recém-nascidos com cariótipo 46,XX. Este trabalho teve por objetivo avaliar a relação entre a fala dos pais e da equipe de saúde com os pacientes na sexuação dos portadores de Hiperplasia Adrenal Congênita (46,XX HAC). Esta síndrome, quando apresentada ao nascimento, pode impossibilitar e definir de imediato o sexo da criança. Foram realizadas entrevistas individuais com dez pacientes adultos (de 19 a 42 anos, sendo 1 homem). Nove pacientes foram submetidos à correção cirúrgica da genitália na infância. Os dados foram codificados e, segundo a frequência em que se repetiam, foram classificados em seis categorias: a) Sexuação. b) Os pais propiciaram palavras sobre a HAC e sobre sexualidade?. c) A equipe de saúde propiciou palavras sobre a HAC e sobre sexualidade?. d) É difícil falar disso. e) A fantasia de ter os dois sexos. f) O que o paciente sabe sobre sua doença. Encontrou-se que seis são heterossexuais, três homossexuais e um bissexual. Houve sugestão de mais diálogo em oito pacientes, seis disseram que é difícil falar de sua doença e de sua sexualidade, sete apresentaram a fantasia de ter os dois sexos e sete apresentaram algum conhecimento médico de sua doença junto com alguma fantasia para explicá-la. A falta de diálogo entre os pacientes e seus pais e entre a equipe de saúde e os pacientes durante a infância e adolescência foi identificada em oito participantes. Concluiu-se que a fala dos pais e da equipe interdisciplinar sobre a HAC e sobre sexualidade tem um valor preponderante sobre a sexuação. Palavras-chave: Sexuação, Sexualidade, Identidade sexual, Hiperplasia adrenal congênitaAbstract: Congenital adrenal hyperplasia (CAH) is an inborn error of metabolism of adrenal steroids and cause disorder of sexual differentiation with ambiguous genitalia in newborn infants with 46, XX karyotype. The classical form of this disorder makes it difficult to easily identify the newborn as male or female. This study aimed to evaluate the relationship between the speech of parents and health professionals to patients and the sexuation of patients with Disorder of Sexual Differentiation and Congenital Adrenal Hyperplasia (CAH). Personal interviews were conducted with ten adult patients (19-42 years, 1 male). Nine patients underwent surgical correction of the genitalia in childhood. Data were coded and, depending on the frequency that recurred were classified into six categories: a) Sexuation; b) Parents provided words about HAC and sexuality; c) The health team facilitated words about HAC and sexuality; d) It is difficult to talk about it; e) The fantasy of having both sexes and f) What the patient knows about her/his disease. It was found that six were heterosexuals, three homosexuals and one bisexual. There was a suggestion of the importance of more dialogue in eight patients; six said that it was difficult to talk about their disease and sexuality; seven had a fantasy of having both sexes and seven had some medical knowledge of their disease along with some fantasy to explain it. The lack of dialogue between patients and their parents and between health staff and patients during childhood and adolescences was identified in eight subjects. In conclusion, the speech of parents and the interdisciplinary team on HAC and sexuality is important to sexuation of patients with disorder of sexual differentiation with CAH. Keywords: Sexuation, Sexuality, Sexual identity, Congenital adrenal hyperplasi

Monocyte activity after stimulation by serum of women with endometriosis

Objectives: Impairments of immune system play an important role in the development and pathogenesis of endometriosis. In affected women peritoneal macrophages are excessively activated, which is visible in an increased synthesis and release of macrophage-derived cytokines and growth factors. Monocytes are precursors of those cells in peripheral blood. The aim of the study was to evaluate the activity of monocyte from a healthy person, after stimulation by serum of women with endometriosis in cell culture conditions. The indicator of monocyte activity was the concentration of neopterin (NPT), produced by those cells. Material and methods: Twenty nine women with endometriosis (mean age: 28.7+/-4.5 years) were included into this study. Among them were 18 women with moderate endometriosis (I and II stages according to AFS) and 11 women with advanced stages of the disease (III and IV stages according to AFS). Reference group consisted of fifteen healthy women (mean age: 27.4+/-5.3 years), with excluded endometriosis and other pathological disorders within the pelvis. Monocytes used in the study were isolated from peripheral blood of a healthy male and serum of women with endometriosis and control group. Monocytes were cultured in attendance of 15% and 30% serum of studied women. The concentration of NPT in the supernatants of culture was measured by enzyme-linked immunosorbent ELISA assay. Results: The serum of women with endometriosis causes an increased concentration of NPT in supernatants, when comparing with serum of healthy women (

Changes in calprotectin concentration – inflammation marker in serum of women with gynecological cancer

Summary Objectives: Malignant tumors of the ovary and uterus remain to be a diagnostic and therapeutic problem in Poland, mainly due to the lack of effective diagnosis of their early stages. There is a relation between an impaired immune system, especially the process of inflammation and the pathogenesis of these tumors. The aim of the study was to assess the concentration of calprotectin – a inflammation marker in the serum of women with ovarian or uterine cancer. Material and methods: The study group included 96 women, aged 21 to 72 (mean age: 46.7+/-13.6 years) with the diagnosed and histologically confirmed ovarian or uterine tumor. The control group consisted of 30 women aged 24–60 (mean age 45.6+/-8.9 years), showing no pathological disorders or any inflammations of the reproductive system. The concentration of calprotectin was evaluated with the use of the immunoenzymatic method ELISA using the Calprotectin ELISA (serum) kit by DRG Instruments (Germany). Results: In serum of women with tumors the calprotectin level was significantly higher comparing to the control group (

Concetration of anticardiolipin antybodies in peritonel fluid and in fluid from lymphocytes culture in women with endometriosis

Summary Aim: The aim of our work was to study both the concentration of anticardiolipin antibodies (aCL) in peritoneal fluid in women with endometriosis and to examine peritoneal lymphocyte ability to produce anticardiolipin antibodies. Material and methods: Study group included 30 women with endometriosis. The clinical stages of the disease were assessed by the revised American Fertility Society (rAFS) classification. Reference group included fifteen healthy women, with excluded endometriosis and other pathological disorders within the pelvis. The concentration of aCL in the peritoneal fluid and in fluid from lymphocyte culture was measured by enzyme-linked immunosorbent ELISA assay. Results: Statistical analysis showed significantly increased mean concentration of aCL in peritoneal fluid in women with endometriosis compared to women from the reference group (

Concentration of soluble ligand for receptor CD30 (sCD30L) – marker of apoptosis in women with ovarian tumor

Summary Objectives: Impairments of apoptosis processes are the basis of pathogenesis of many diseases, including ovarian tumors. The aim of the study was to evaluated the concentration of soluble ligand for receptor CD30 (sCD30L) – marker of apoptosis in women with ovarian tumor. Material and methods: The study comprised 80 women, aged from 21 to 62, and included 30 patients with Cystadenocarcinoma serosum Ia, 35 with Cystadenoma serosum and 15 women with Teratoma maturum. The control group consisted of 30 healthy women, aged 24 to 57, with no evidence of pathological disorders in the reproductive system. The concentration of sCD30L in the serum of all studied women and in the fluid of ovarian cyst of women with cystadenoma serous were measured by immunoenzymatic method ELISA. Results: The highest level of sCD30L was observed in the serum of women with ovarian cancer and it was significantly higher when compared to the concentration in the serum of women with cystadenoma serous and teratoma maturum of the ovary (

Ocena częstości występowania hipoglikemii w zależności od aktywności fizycznej

  Aim. Assessment of the effect of the physical activity level in diabetic patients on the occurrence of hypo­glycaemia. Material and methods. The survey was conducted in a group of 422 diabetic patients: 209 patients with type 1 diabetes mellitus (129 women, 80 men, mean age 30 ± 11 years, mean duration of diabetes 12 ± 8 years, HbA1c: 7.5 ± 1.4%) and 213 patients with type 2 diabetes mellitus (119 women, 94 men, mean age 60 ± 12 years, mean duration of diabetes 10 ± 9 years, HbA1c: 8 ± 1.5%). Patients filled in the questionnaire covering data on diabetes control and physical activity (based on the International Physical Activity Question­naire — IPAQ). Results. Overall the number of patients with hypogly­cemia was significantly higher in patients with high physical activity (65%) when compared to low activity (43%; p &lt; 0.01). Patients with moderate activity did not differ from remaining groups. In type 1 diabetes mellitus number of episodes was significantly lower in low activity group (4%) when compared to high activity (61%; p &lt; 0.001) and moderate activity (17%; p &lt; 0.001). Also significant difference was found be­tween high and moderate activity (p &lt; 0.001). In type 2 diabetes mellitus the relation was similar. 23% patients with hypoglycemia in high activity; 11% in moder­ate activity (p &lt; 0.005) and 5% in low activity group (p &lt; 0.001 vs. high and moderate activity respectively). Conclusions. The incidence of hypoglycaemia increases along with increasing physical activity. This indicates the necessity of an increased education in patients planning physical activity.   Cel. Ocena wpływu poziomu aktywności fizycznej u chorych na cukrzycę na występowanie hipoglikemii. Materiał i metody. Badanie zostało przeprowadzone w grupie 422 pacjentów chorych na cukrzycę: 209 chorych na cukrzycę typu 1 (129 kobiet, 80 mężczyzn, średni wiek: 30 ± 11 lat, średni czas trwania cukrzy­cy: 12 ± 8 lat, HbA1c: 7,5 ± 1,4%) oraz 213 chorych na cukrzycę typu 2 (119 kobiet, 94 mężczyzn, średni wiek: 60 ± 12 lat, średni czas trwania cukrzycy: 10 ± 9 lat, HbA1c: 8 ± 1,5%). Pacjenci uzupełnili ankietę obejmującą dane dotyczące wyrównania cukrzycy oraz aktywności fizycznej (wg Międzynarodowego Kwestio­nariusza Aktywności Fizycznej — IPAQ). Wyniki. Ogółem liczba pacjentów z hipoglikemią była istotnie wyższa u pacjentów cechujących się wysoką aktywnością fizyczną (65%) w porównaniu z niską aktywnością (43%, p < 0,01). Pacjenci z umiarkowa­ną aktywnością nie różnili się od pozostałych grup. W przypadku cukrzycy typu 1 liczba epizodów była istotnie niższa w grupie o niskiej aktywności (4%) w porównaniu z wysoką aktywnością (61%, p < 0,001) i umiarkowaną aktywnością (17%, p < 0,001). Stwierdzono również istotną różnicę pomiędzy wysoką i umiarkowaną aktywnością (p < 0,001). U chorych na cukrzycę typu 2 relacja była podobna: 23% pacjentów z hipoglikemią w przypadku wysokiej aktywności, 11% — w umiarkowanej (p < 0,005) i 5% w grupie o niskiej aktywności (odpowiednio p < 0,001 vs. wy­soka i umiarkowana aktywność). Wnioski. Częstość występowania hipoglikemii zwiększa się wraz ze wzrostem aktywności fizycznej. Wskazuje to na konieczność zwiększenia edukacji pacjentów planujących aktywność fizyczną

A simple mathematical model for Ebola in Africa

We deal with the following question: Can the consumption of contaminated bush meat, the funeral practices and the environmental contamination explain the recurrence and persistence of Ebola virus disease outbreaks in Africa? We develop an SIR-type model which, incorporates both the direct and indirect transmissions in such a manner that there is a provision of Ebola viruses. We prove that the full model has one (endemic) equilibrium which is locally asymptotically stable whereas, it is globally asymptotically stable in the absence of the Ebola virus shedding in the environment. For the sub-model without the provision of Ebola viruses, the disease dies out or stabilizes globally at an endemic equilibrium. At the endemic level, the number of infectious is larger for the full model than for the sub-model without provision of Ebola viruses. We design a nonstandard finite difference scheme, which preserves the dynamics of the model. Numerical simulations are provided.The South African Research Chairs Initiative (SARChI chair) in Mathematical Models and Methods in Bioengineering and Biosciences.https://www.tandfonline.com/loi/tjbd20hj2021Forensic MedicineMathematics and Applied Mathematic

The immune complex p53 protein/anti-p53 autoantibodies in the pathogenesis of ovarian serous carcinoma

Objectives: The tests conducted were intended to analyze the concentration of p53 protein and anti-p53 autoantibodies in serum of women with ovarian tumours. Material and methods: The study included patients with diagnosed ovarian cancer: Cystadenoma serosum or Cystadenocarcinoma papillare serosum at IIIc stage (including 10 women who had G1, 14 women who had G2 and 30 women who had G3 staging). Concentrations of parameters were measured by ELISA. Results: The analysis of the obtained results showed statistical significance between the concentration of p53 protein depending on the degree of differentiation of G1 and G3 (p &lt; 0.001) and anti-p53 autoantibodies depending on the degree of differentiation of G1 and G2 (p &lt; 0.05) as well as G2 and G3 (p &lt; 0.01). In addition, the determined p53/anti-p53 autoantibodies ratio was only significant between G1 and G2 (p &lt; 0.05), as was the assessment of the percentage of the tested parameters in the immune complex. Conclusions: Immune system disorders involving the p53 protein and anti-p53 autoantibodies may be one of the immune mechanisms involved in the pathogenesis of ovarian serous cancer

Participation of selected soluble cell adhesion molecules and syndecans in formation and development of endometriosis

Objectives: Concentrations of soluble ICAM-2, -3, -4 and syndecan-1 and -4 have not yet been marked in the peritoneal fluid of women with endometriosis. The aim of the study was to determine whether these molecules can participate in formation and development of endometriosis.Material and methods: The study comprised of 80 women at the proliferative phase of the menstrual cycle, aged 21 to 49 years (mean age 31. 3 ± 6. 7 years) undergoing laparoscopy, to determine the causes of primary infertility and to confirm or exclude endometriosis. The study group consisted of 60 women with endometriosis in the pelvis as confirmed by laparoscopy and histopathology. The reference group consisted of 20 women in whom no endometriosis. Concentrations of selected sICAM and syndecans in the peritoneal fluid were determined with the use of ELISA method. Results: Decreased concentrations of sICAM-2 and increased concentrations of sICAM-3, sICAM-4 and syndnecan-1 and -4 were observed in the peritoneal fluid of women with endometriosis and compared with concentrations of this parameter in the reference group (p &lt; 0.0001). Additionally, negative correlation was found between the concentrations of sICAM-3 and sICAM-2 among women with endometriosis. There was no statistically significant correlation between the concentration of sICAM-2 and sICAM-4, sICAM-3 and sICAM-4 and syndecan-1 and syndecan-4 in the examined women. Conclusions: Changes in concentrations of all the evaluated molecules were observed in the peritoneal fluid in women suffering from endometriosis. Since they have a role in regulation of the immune response, in angiogenesis and apoptosis of the endometrial cells