Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 73
Filtrar
1.
Rhinology ; 58(6): 544-549, 2020 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-32692786

RESUMO

BACKGROUND: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a type 2-dominated inflammatory disease of the upper air- ways. A subgroup of patients with CRSwNP suffer from intolerance to nonsteroidal anti-inflammatory drugs (NSAID) and develop NSAID-exacerbated respiratory disease (NERD). The aim of the study was to compare the cytokine based inflammatory endotype of nasal secretions of CRSwNP patients with and without NSAID intolerance. METHODS: Nasal secretions were collected from twenty-six patients suffering from CRSwNP, thirteen with NERD and thirteen without NSAID intolerance. As control, nasal secretions were collected from fifteen healthy donors. Tryptase and ten human cyto- kines were analyzed: interleukin (IL)-4, IL-5, IL-6, IL-8, IL-12p70, IL-13, IL-17A, IL-23, IFN-g, and TNF-a by a cytokine multiple array on a Luminex 200 platform. RESULTS: Grade of polyposis and frequency of polyp surgery was more severe in NERD- compared to non-NERD patients. IL-6 and IL-5 in CRSwNP was significantly increased compared to healthy participants. IL-5 and IL-13 were significantly increased in subjects suffering from NERD compared to CRSwNP patients without NERD. CONCLUSION: We identified IL-13 as a possible specific biomarker in nasal secretions of patients with NERD, which allows us to differentiate between CRSwNP with vs. without NERD. The characterization of inflammatory endotypes in CRSwNP enables the introduction of the best available therapy in the context of precision medicine.


Assuntos
Pólipos Nasais , Rinite , Sinusite , Anti-Inflamatórios não Esteroides/efeitos adversos , Doença Crônica , Humanos , Interleucina-13 , Pólipos Nasais/complicações , Rinite/complicações , Sinusite/complicações
2.
J Endocrinol Invest ; 43(6): 841-852, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31902058

RESUMO

OBJECTIVE: To present the sonographic follow-up of intrathyroidal ectopic thymus (IET) in children and adolescent patients. PATIENTS: Out of the 507 children referred to FNAB between 2006 and 2018, 30 (5.9%) pediatric patients (10 females), mean age 5.7 years (1.2-13.8, median 4.9 years) were diagnosed with IET. METHODS: A retrospective analysis of medical files of patients diagnosed with IET between 2006 and 2018. Assessed data included ultrasound characterisation, elastographic strain ratio (SR) results and hormonal evaluation. RESULTS: Analysis of thyroid US scans revealed that the mean age at the first thyroid ultrasound was 5.7 (1.2-13.8, median 4.9) years, and at the last US 10.7 (3.7-18, median 10.5) years. The mean time of the IET observation was 59.6 (2-148, median 53.5) months. On US, IET was hypoechoic with multiple linear and punctate echoes, hypovascular, fusiform on longitudinal plane and round or polygonal on an axial plane, more common in the right thyroid lobe (66.7%) and located in the posterior part of the lobes (54.5%), bilateral in two patients and multifocal in one patient. SR of IET was similar to the surrounding normal thyroid tissue. Complete regression of IET was observed in 12/30 patients after a mean time of 81.7 months (median 76.5), at the mean age of 13.7 (9.2-18, median 13.9) years. FNAB was performed in 10/30 and a hemithyroidectomy in 1/30 IET patients. In the FNAB (+) group, patients were younger (5.08 vs 6.08 years) and lesions were larger (0.12 ml vs 0.05 ml) than in the FNAB (-) group. All patients with IET were euthyroid with negative TPOAb and TgAb levels. CONCLUSION: The reproducibility of unique ultrasound features of IETs allows for safe long-term follow-up of these benign lesions in the majority of pediatric patients: not only monitoring the regression of IET but also screening towards the rare occurrence of a tumor arising from the IET.


Assuntos
Coristoma/diagnóstico por imagem , Timo , Glândula Tireoide/diagnóstico por imagem , Ultrassonografia de Intervenção/tendências , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino
3.
J Endocrinol Invest ; 42(3): 261-270, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29872995

RESUMO

PURPOSE: To present the outcomes of ultrasound (US) follow-ups in children with autoimmune thyroid disease who did not have a thyroid nodule on admission but developed papillary thyroid carcinoma (PTC) and to characterize the parenchymal changes in the thyroid gland prior to the development of PTC. METHODS: A retrospective thyroid US scan review of 327 patients diagnosed with AIT was performed. Forty patients (40/327, 12.2%) presented nodular AIT variant with a normoechogenic background. Eleven patients (11/327, 3.4%, 11/40, 27.5%) presenting this variant were diagnosed with PTC (nine females-mean age 15.3 years; two males aged 11 and 13 years). In five of 11 patients, the suspicious nodule that was later confirmed to be PTC was detected on the initial US at presentation. For the remaining six females (6/11) who developed PTC during the follow-up, we retrospectively analysed their US thyroid scans and these patients were selected for analysis in this study. RESULTS: On admission, the US evaluation revealed an enlarged normoechogenic thyroid gland in three patients and a hypoechogenic thyroid gland with fibrosis as indicated by irregular, chaotic hyperechogenic layers in three patients. No thyroid nodules were identified. Ultrasound monitoring revealed increasing echogenicity of the thyroid parenchyma during the follow-up. PTC developed in a mean time of 4.6 years (1 9/12-7 4/12 years) since referral to the outpatient thyroid clinic and 2.9 years (6/12-6 9/12) since the last nodule-free US thyroid scan. CONCLUSIONS: Sonographic follow-up assessments warrant further exploration as a strategy to determine PTC susceptibility in the paediatric population.


Assuntos
Carcinoma Papilar/patologia , Tecido Parenquimatoso/patologia , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Tireoidite Autoimune/complicações , Adolescente , Adulto , Carcinoma Papilar/diagnóstico por imagem , Carcinoma Papilar/etiologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Tecido Parenquimatoso/diagnóstico por imagem , Prognóstico , Estudos Retrospectivos , Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/etiologia , Tireoidite Autoimune/diagnóstico , Tireoidite Autoimune/diagnóstico por imagem , Ultrassonografia , Adulto Jovem
4.
J Endocrinol Invest ; 41(3): 371-380, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28866751

RESUMO

BACKGROUND: The prevalence of autoimmune thyroiditis (AIT) and papillary thyroid carcinoma (PTC) is rising in children and adolescents, and the coincidence of AIT and PTC is as high as 6.3-43%. OBJECTIVE: To investigate the ultrasound manifestation of AIT in relation to PTC development in paediatric patients. PATIENTS: 179 paediatric patients (133 females), mean (SD) age: 13.9 (3.03) years diagnosed with AIT and referred for ultrasound evaluation. Eight patients were diagnosed with PTC (6 females). METHODS: Retrospective analysis of thyroid ultrasound scans of patients diagnosed with AIT. Thyroid and autoimmune status was assessed based on TSH, fT4, fT3 and increased aTPO and/or aTG and/or TRAB levels. In patients with PTC, total thyroidectomy was performed. RESULTS: Analysis of thyroid US scans revealed that the following five ultrasound variants of AIT were observed in 179 patients: the most common in 35.2%-diffuse thyroiditis with hypoechogenic background and normoechogenic parenchyma, in 30.2%-diffuse thyroiditis with irregular background, in 18.9% nodular variant with normoechogenic background, in 11.7%-micronodulations and in 3.9%-diffuse hypoechogenic background. Eight cases of PTC were diagnosed in nodular variant of AIT with normoechogenic irregular background. CONCLUSION: Patients with AIT and nodular variant with normoechogenic irregular background of the thyroid gland on US scans are in the risk group of developing PTC and should be followed up with regular neck US assessment.


Assuntos
Carcinoma Papilar/patologia , Neoplasias da Glândula Tireoide/patologia , Tireoidite Autoimune/complicações , Ultrassonografia/métodos , Adolescente , Carcinoma Papilar/diagnóstico por imagem , Carcinoma Papilar/etiologia , Criança , Feminino , Seguimentos , Humanos , Masculino , Prognóstico , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/etiologia , Tireoidite Autoimune/diagnóstico , Tireoidite Autoimune/diagnóstico por imagem
6.
Angiology ; 67(5): 471-7, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26198473

RESUMO

Patients with familial hypercholesterolemia (FH) are at increased risk of premature cardiovascular disease. We compared factors associated with the presence of carotid plaques and carotid intima-media thickness (cIMT), markers of subclinical atherosclerosis, in 241 patients with FH (98, 40.7% men; mean age 41 ± 18.4 years). Patients with FH having carotid plaques (36.5%) had mean age, apolipoprotein (apo) B, glucose, apoA1, systolic blood pressure (SBP) and diastolic BP, waist/hip ratio (WHR), and body mass index higher than patients without plaques. Logistic regression revealed that apoB (odds ratio [OR] per 1 unit change 1.03,P= .005), high-density lipoprotein cholesterol (HDL-C; OR per 1 standard deviation [SD] change 0.59,P= .015), and non-HDL-C (OR per 1SD change 1.53,P= .04) were significantly associated with the presence of plaques. The cIMT correlated with obesity parameters, BP, apoB, glucose, high-sensitivity C-reactive protein, creatinine, γ-glutamyl transpeptidase, and alanine transaminase (P< .001). Regression analysis revealed that cIMT was significantly associated with apoB, SBP, and WHR. These results confirm the role of apoB-containing lipoproteins and low HDL-C with the presence of carotid plaques and apoB, BP, and WHR with cIMT.


Assuntos
Apolipoproteínas B/sangue , Aterosclerose/complicações , Espessura Intima-Media Carotídea , HDL-Colesterol/sangue , Hiperlipoproteinemia Tipo II/complicações , Lipoproteínas HDL/metabolismo , Adulto , Idoso , Aterosclerose/sangue , Pressão Sanguínea/fisiologia , Feminino , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/metabolismo , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Adulto Jovem
7.
Exp Clin Endocrinol Diabetes ; 124(1): 16-21, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26465830

RESUMO

AIMS: Microalbuminuria reflects generalized vascular dysfunction and the risk of cardiovascular disease. The study aim was to examine the relationship between low-grade albuminuria and the selected risk factors for atherosclerosis, markers of endothelial dysfunction and inflammation in diabetic children and adolescents. METHODS: In 154 children with diabetes duration of at least 5 years we assessed: HbA1c, lipid profile, apolipoproteins, lipoprotein (a), asymmetric dimethylarginine (ADMA), von Willebrand factor, fibrinogen, uric acid, cystatin C, creatinine, 24-h blood pressure monitoring (ABPM) and albuminuria. RESULTS: Median albuminuria in the whole group was 2.02 µg/min. No correlations were found between albuminuria and lipids, apolipoproteins, fibrinogen, von Willebrand factor, cystatin C and GFR, HbA1c, and uric acid. A significant negative correlation was found between AER and ADMA (R=-0.24, p=0.0023) and positive correlation with all ABPM variables: mean SBP (R=0.23, p=0.0049), mean DBP (R=0.24, p=0.0023), daytime MAP (R=0.31, p=0.0001), nocturnal MAP (r=0.31, p<0.0001) and with percentage of blood pressure dipping (R=-0.17, p=0.0323). A trend was noted for a positive correlation between albuminuria and Lp(a) (R=0.15, p=0.059) and BMI Z-score (R=0.14, p=0.089).Children with albuminuria below 5 µg/min. had significantly lower level of fibrinogen (2.96±0.57 g/l vs. 3.29±0.66 g/l, p=0.0167) and mean 24-h systolic and diastolic blood pressure, mean day and nocturnal blood pressure in comparison to the subjects with higher albuminuria. CONCLUSIONS: diabetic children with acceptable diabetes control but high-normal albuminuria together with higher level of Lp(a), fibrinogen and blood pressure may require more attention in terms of prevention of early macroangiopathy development.


Assuntos
Albuminúria , Aterosclerose , Complicações do Diabetes/sangue , Diabetes Mellitus Tipo 1/sangue , Adolescente , Albuminúria/sangue , Albuminúria/etiologia , Aterosclerose/sangue , Aterosclerose/etiologia , Criança , Pré-Escolar , Endotélio Vascular/metabolismo , Feminino , Humanos , Masculino , Fatores de Risco
8.
J Appl Genet ; 56(4): 463-467, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25997614

RESUMO

A patient with a female phenotype, 46,XY karyotype, and a diagnosis of complete androgen insensitivity syndrome (CAIS) was examined. Her mother and three 46,XX sisters were also included in the study. Sequence analysis of the androgen receptor gene (AR) revealed a novel A2933 insertion that alters the Tyr codon to a termination codon (Y857X), resulting in a truncated form of the receptor. Computer simulation revealed major conformational changes in the hydrophobic pocket that accommodates the hormone. An insA2933 results in a truncated receptor incapable of binding the ligand and is responsible for the clinical symptoms of CAIS in the patient. The levels of the AR transcript in peripheral blood leukocytes were higher in the patient than in her heterozygous mother and her heterozygous sister, as well as in the two healthy sisters. It is hypothesized that elevated levels of the AR transcript in the patient might be caused by the inability of the truncated receptor to react with IFI-16, which functions in complex with AR to inhibit the expression of the AR gene.


Assuntos
Síndrome de Resistência a Andrógenos/genética , Códon de Terminação/genética , Receptores Androgênicos/genética , Sequência de Bases , Pré-Escolar , Análise Mutacional de DNA , Feminino , Heterozigoto , Humanos , Masculino , Proteínas Mutantes/genética , Mutação , Linhagem
9.
Exp Clin Endocrinol Diabetes ; 123(4): 252-9, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25868061

RESUMO

OBJECTIVES: The assessment of the health consequences associated with obesity in young children is challenging. The aims of this study were: (1) to compare insulin resistance indices derived from OGTT in obese patients and healthy control (2) to analyze central obesity and Type 2 Diabetes genes expression in obese children, with special attention to the youngest group (< 10 years old). PATIENTS AND METHODS: The study included 49 children with obesity (median age 13.5 years old), and 25 healthy peers. Biochemical blood tests and expression of 11 central obesity and 33 Type 2 Diabetes genes was assessed. RESULTS: A significant difference in insulin resistance between obese and non-obese adolescents was observed in all studied indices (mean values of the insulin levels: 24.9 vs. 9.71 mIU/L in T0, 128 vs. 54.7 mIU/L in T60 and 98.7 vs. 41.1 mIU/L in T120 respectively; AUC: 217 vs. 77.2 ng/ml*h, mean values of B% (state beta cell function), S% (insulin sensitivity), and IR were 255 (±97) vs. 135 (±37.8), 46.6 (±37.3) vs. 84.2 (±29.6) and 3 (±1.55) vs. 1.36 (±0,56); HIS, WBIS and ISIBel median 3.89, 44.7, 0.73 vs. 8.57, 110, 2.25. All comparisons differed significantly p<0.001). Moreover, insulin sensitivity was significantly better in the older obese group (>10 years old): median AUC 239 vs. 104 ng/ml*h, and HIS, WBIS and ISIBel 3.57, 38, 0.67 vs. 6.23, 75.6, 1.87 respectively in the obese older compared to the obese younger subgroup, p<0.05. The expression of 64% of the central obesity genes and 70% of Type 2 Diabetes genes was higher in the obese compared to control groups. The differences were more pronounced in the younger obese group. CONCLUSION: Insulin resistance may develop in early stage of childhood obesity and in very young children may be associated with higher expression of the central obesity and Type 2 Diabetes genes.


Assuntos
Diabetes Mellitus Tipo 2/genética , Expressão Gênica , Resistência à Insulina/genética , Obesidade Abdominal/genética , Adolescente , Criança , Pré-Escolar , Feminino , Teste de Tolerância a Glucose , Humanos , Masculino
10.
J Endocrinol Invest ; 38(3): 345-9, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25304095

RESUMO

PURPOSE: An increased risk of insulin resistance, hypertension and liver dysfunction is related to obesity (Ob), but may be also present in normal-weight Turner syndrome (TS) patients. The aim of the study was to compare metabolic risk in adolescents with TS and Ob. METHODS: The study included 21 non-obese with TS (all receiving human recombinant growth hormone, 17/21 estrogen/estrogen-progesterone), and 21 age-matched Ob girls (mean age 13.9 years). Glucose and serum insulin levels were assessed fasting and in 120' of standard oral glucose tolerance test. Levels of triglycerides (TG), total cholesterol (TC), low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol, alanine aminotransferase (ALT), FGF19, FGF21 and FGF23 levels were measured fasting. RESULTS: Mean BMI SDS was significantly lower in TS patients (0.1 vs 4.8 SD, p < 0.001). The mean systolic and diastolic blood pressure was significantly lower in TS patients (102.6 vs 124.2 mmHg, p < 0.001 and 67.1 vs 76.5 mmHg, p = 0.02). There were no differences concerning mean fasting, and post-load glucose (4.5 vs 4.3, 5.1 vs 5.8 mmol/L), and insulin (14.97 vs 17.19 and 69.3 vs 98.78 µIU/mL) levels, HOMA-IR (3.02 vs 3.4), TC (4.05 vs 4.4 mmol/L), TG (1.25 vs 1.37 mmol/L), ALT (26.9 vs 28.3 IU/L), FGF19 (232.8 vs 182.7 pg/mL), and FGF23 (12.3 vs 17.5 pg/mL) levels. Mean LDL (2.05 vs 2.7 mmol/L, p = 0.003) and FGF21 (293.9 vs 514.7 pg/mL, p = 0.007) levels were significantly lower, and HDL (1.7 vs 1.2 mmol/L, p < 0.001) level higher in TS group. CONCLUSIONS: Insulin resistance in adolescents with TS on growth hormone treatment is comparable to Ob patients, but overall metabolic risk factors seem to be lower.


Assuntos
Glicemia/metabolismo , Resistência à Insulina/fisiologia , Insulina/sangue , Obesidade/metabolismo , Síndrome de Turner/metabolismo , Adolescente , Criança , Feminino , Fator de Crescimento de Fibroblastos 23 , Fatores de Crescimento de Fibroblastos/sangue , Teste de Tolerância a Glucose , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Lipídeos/sangue , Obesidade/sangue , Fatores de Risco , Síndrome de Turner/sangue , Síndrome de Turner/tratamento farmacológico
11.
Exp Clin Endocrinol Diabetes ; 122(8): 491-5, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24918536

RESUMO

AIMS: To investigate the relationship between bone-derived osteocalcin (OC), osteoprotegerin (OPG), Receptor Activator of Nuclear Factor NF-ĸB ligand (RANKL), and fat tissue-derived leptin and adiponectin with a clinical outcome of type 1 diabetes mellitus (T1DM) in children and adolescents. METHODS: 78 patients (43 girls and 35 boys), aged 11.5±4.3 years with T1DM and 11 age- and BMI-matched controls were included into the study. Patients were divided into 3 groups according to HbA1c level, I - below 7% [53 mmol/mol], II - 7-9% [53-75 mmol/mol] and III - above 9% [75 mmol/mol]. Blood samples for biochemical measurements were drawn at 8.00 AM, when the patients were in a fasting state. HbA1c was measured by the standardized IFCC method. OC, OPG, RANKL, leptin and adiponectin were measured by ELISA. ANOVA, and multiple regression analysis were used for statistical analysis. RESULTS: Significant differences in leptin and osteocalcin levels between groups with different HbA1c values were observed (p=0.03, p=0.04). Multiple regression analysis adjusted for age showed that serum OC and leptin negatively correlated with HbA1c levels (r=-0.22, p=0.004 and r=-0.27, p=0.0001, respectively). In contrast, serum OPG correlated positively with HbA1c (r=0.26, p=0.02) as well as with adiponectin (r=0.26, p=0.02) and RANKL (r=0.27, p=0.02) levels. The correlation of OC with HbA1c was the strongest in group I - patients with good metabolic control of DM (r=-0.43, p=0.03). In that group, in multiple regression analysis adjusted for age and BMI leptin correlated positively with daily dose of insulin (r=0.52, r=0.009). In group II and III in multiple regression analysis adjusted for age and BMI OC correlated negatively with leptin (r=-0.37, p=0.01). CONCLUSIONS: Our data suggest significant relationships between bone, fat tissue and glucose metabolism in pediatric patients with T1DM. The results can confirm that poor metabolic control is associated with reduced bone formation. On the other hand fat and bone tissue can influence glucose metabolism, potentiality in insulin-dependent manner. From these data leptin or OC may be potentially used as additional therapeutic agents for T1DM.


Assuntos
Adiponectina/sangue , Diabetes Mellitus Tipo 1/sangue , Leptina/sangue , Osteocalcina/sangue , Osteoprotegerina/sangue , Ligante RANK/sangue , Adolescente , Biomarcadores/sangue , Criança , Feminino , Humanos , Insulina/sangue , Masculino
13.
J Endocrinol Invest ; 30(7): 578-89, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17848841

RESUMO

We report 24-month interim results of two multicenter phase III studies in previously untreated children with growth failure secondary to GH deficiency (GHD) that were paramount to the development of a new recombinant human GH (rh- GH, somatropin), approved as the first 'biosimilar' in Europe. Study 1 consisted of 3 parts performed in 89 children. The objective was to compare efficacy and safety of the lyophilized formulation of the new somatropin [Somatropin Powder (Sandoz)] with a licensed reference rhGH preparation and the liquid formulation of the new somatropin [Somatropin Solution (Sandoz)] and to assess long-term efficacy and safety of this ready-to-use Somatropin Solution. Study 2 was performed in 51 children and designed to demonstrate efficacy and safety of Somatropin Powder and to confirm its low immunogenic potential; rhGH was given sc at a daily dose of 0.03 mg/kg. Primary [body height, height SD score (HSDS), height velocity, and height velocity (HV) SD score (HVSDS)] and secondary [IGF-I and IGF binding protein 3 (IGFBP-3)] efficacy endpoints and safety parameters were assessed regularly. In study 1, all treatments showed comparable increases in growth. The baseline-adjusted difference between Somatropin Powder and the reference rhGH product in mean HV was -0.20 cm/yr (95% confidence interval (CI) [-1.34;0.94]) and in mean HVSDS was 0.76 (95% CI [-0.57;2.10]) after 9 months. These very small differences demonstrate comparable therapeutic efficacy between the two treatments. The results of study 2 were consistent with those seen in study 1. Equivalent therapeutic efficacy and clinical comparability in terms of safety and immunogenicity between Somatropin Powder and the reference rhGH product and between Somatropin Powder and Somatropin Solution was demonstrated. The safety and immunogenicity profiles were similar and as expected from experience with rhGH preparations.


Assuntos
Transtornos do Crescimento/tratamento farmacológico , Hormônio do Crescimento Humano/administração & dosagem , Determinação da Idade pelo Esqueleto , Estatura/efeitos dos fármacos , Criança , Pré-Escolar , Feminino , Seguimentos , Hormônio do Crescimento Humano/efeitos adversos , Humanos , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina , Proteínas de Ligação a Fator de Crescimento Semelhante a Insulina/sangue , Fator de Crescimento Insulin-Like I/análise , Masculino , Pós , Proteínas Recombinantes/administração & dosagem , Proteínas Recombinantes/efeitos adversos , Soluções , Resultado do Tratamento
14.
J Urol ; 171(6 Pt 2): 2632-5, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15118438

RESUMO

PURPOSE: Sigmoid vaginoplasty is an alternative technique for vaginal replacement. We describe the successful use of laparoscopy for reconstruction of a vagina in patients with the Mayer-Rokitansky-Kuster-Hauser syndrome. MATERIALS AND METHODS: Laparoscopic surgery was performed in 5 girls with a mean age of 17 years and 5 months. We used 4 ports, the first of which was inserted supraumbilically by the Hasson technique. The next 10 mm port was introduced through the right lower quadrant under visual control. Then 5 and 15 mm ports were inserted at the left lower quadrant. The scope was introduced through the supraumbilical port. After isolating a segment of the sigmoid using 2 endoscopic staplers an incision was made in the deepest part of the vestibule. Performing a blunt dissection a 2-finger wide space was created between the urethra, bladder and rectum. In the top of the space the peritoneum was incised under laparoscopic control, which allowed passage of the forceps from the perineum and enabled descent of the isolated sigmoid segment. The graft was fixed to the mucosa of the vaginal vestibule using a single suture. The continuity of the intestinal tract was restored using a circular mechanical suture through the rectum. RESULTS: Average operative time was 5 hours. None of the cases needed conversion to open surgery. No significant blood loss or any other complication was noted. Average postoperative stay was 7 to 9 days. CONCLUSIONS: This preliminary report suggests that laparoscopic sigmoid vaginal replacement is feasible and safe, and may be used as an alternative to open surgery.


Assuntos
Anormalidades Múltiplas , Colo Sigmoide/transplante , Laparoscopia , Ductos Paramesonéfricos/anormalidades , Procedimentos de Cirurgia Plástica , Útero/anormalidades , Vagina/anormalidades , Vagina/cirurgia , Adolescente , Adulto , Feminino , Humanos , Síndrome
15.
J Endocrinol Invest ; 25(3): 259-63, 2002 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-11936470

RESUMO

Molecular diagnostics of the LHR gene was conducted in a 5-year-old boy with clinical symptoms and hormonal profile typical of precocious puberty. His parents and 4 sisters were also diagnosed. Single-strand conformation polymorphism analysis under temperature gradient conditions (Multitemperature SSCP) of 3 overlapping fragments of exon 11 of LHR gene revealed a mutation in the fragment spanning nucleotides 1072 to 1804. This mutation was found in the patient, in his mother and in his 4 sisters, and was confirmed by digestion with the use of restriction enzyme Bbr Cl. Direct sequencing revealed a heterozygous T1193C transition in the DNA fragment of the patient and in one of the alleles of his mother's and sister's DNA. This mutation causes Met398Thr substitution in the second transmembrane helix and results in a constitutive activation of LH receptor. This is the second identical mutation detected in Poland and one of the 7 identified so far in the world population.


Assuntos
Mutação , Puberdade Precoce/genética , Receptores do LH/genética , Pré-Escolar , Eletroforese em Gel de Poliacrilamida , Éxons , Heterozigoto , Humanos , Masculino , Linhagem , Polimorfismo Conformacional de Fita Simples , Estrutura Secundária de Proteína , Receptores do LH/química , Análise de Sequência de DNA , Temperatura
16.
J Pediatr Endocrinol Metab ; 14(6): 789-96, 2001 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11453531

RESUMO

A 5 year-old girl presented with typical features of isosexual precocity with breast and pubic hair development (Tanner stage 3) and menarche, following a few months history of hirsutism of the back and thighs. Stimulation testing revealed GnRH-independent precocious puberty, tertiary hypothyroidism, hyperprolactinemia and mild testosteronemia. The ovaries in ultrasound examination were prepubertal. Tumor markers beta-hCG and AFP were markedly elevated and a 2.5 x 1.5 cm suprasellar germ cell tumor (GCT) was visualized by MRI. Combined chemotherapy followed by radiotherapy resulted in normalization of pubertal features along with estrogen and marker levels. Our observations support the possibility of hCG-dependent precocious puberty (PP) in girls caused by suprasellar hCG-secreting tumor. We emphasize the need of diagnostic management of hCG-dependent PP not only in boys, but also in girls, especially when they present even slight features of androgenization. We hypothesize that the rarity of isosexual PP in girls with hCG-secreting suprasellar GCT results not only from the lower occurrence of these tumors in girls than in boys, but above all from a rare simultaneous concomitant incidence of both high tumor aromatase activity and hCG secreting potency.


Assuntos
Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/metabolismo , Gonadotropina Coriônica Humana Subunidade beta/metabolismo , Germinoma/complicações , Germinoma/metabolismo , Hormônio Liberador de Gonadotropina/fisiologia , Puberdade Precoce/etiologia , alfa-Fetoproteínas/metabolismo , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/terapia , Pré-Escolar , Terapia Combinada , Feminino , Germinoma/diagnóstico , Germinoma/terapia , Humanos , Imageamento por Ressonância Magnética , Sela Túrcica
17.
J Pediatr Endocrinol Metab ; 14(4): 443-9, 2001 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11327379

RESUMO

Only a few reports on patients with hypo/ asplenism associated with APECED have been published, yet hyposplenism has been found in approximately half of the studied patients. The 7-year follow-up in our only patient with APECED revealed a decrease of spleen size from normal to half-size by ultrasound and CT examinations. Scintigraphy of the liver and spleen demonstrated a progressively diminishing splenic uptake of the tracer from low to complete absence. Peripheral blood smears revealed permanent thrombocytosis with the presence of Howell-Jolly bodies when functional asplenism was reached. The cause of autoimmunization and hyposplenism in APECED is unknown. We hypothesize that hyposplenism depends primarily on local AIRE gene dysfunction in the spleen, and secondarily on an AIRE gene-mediated autoagressive process. In our opinion, hypo/asplenism in APECED disease might not be noticed in patients with APECED if not directly examined. Thus we emphasize the necessity of searching for hyposplenism in all patients with APECED, and recommend scintigraphy.


Assuntos
Poliendocrinopatias Autoimunes/imunologia , Esplenopatias/imunologia , Autoanticorpos/sangue , Criança , Eritrócitos/patologia , Feminino , Citometria de Fluxo , Técnica Indireta de Fluorescência para Anticorpo , Humanos , Imunoglobulinas/sangue , Fígado/diagnóstico por imagem , Subpopulações de Linfócitos , Poliendocrinopatias Autoimunes/diagnóstico , Poliendocrinopatias Autoimunes/genética , Cintilografia , Baço/diagnóstico por imagem , Baço/imunologia , Baço/fisiopatologia , Esplenopatias/diagnóstico , Esplenopatias/fisiopatologia , Trombocitose/etiologia , Tomografia Computadorizada por Raios X , Ultrassonografia
18.
Support Care Cancer ; 9(1): 65-8, 2001 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-11147146

RESUMO

The aim of this pilot study was to assess a humoral response to influenza vaccine in 9 women with breast cancer. In the epidemic season 1998/1999 the patients received a single 0.5-ml dose of split influenza vaccine (Vaxigrip, Pasteur Merieux). Humoral response was measured by the hemagglutinin inhibition test in sera collected before vaccination and 1 month after vaccination. All results were compared with a control group of 19 healthy vaccinated women. The mean 'fold' increases ranged from 12.0 to 22.2 in patients with breast cancer and from 10.5 to 29.2 in healthy women. After vaccination, protection rates ranged from 44.4% to 88.9% and 63.2% to 94.7%, respectively. Response rates were between 44.4% and 88.9% in women with cancer and between 63.2% and 78.9% in the control group. After vaccination, antihaemagglutinin antibody titers were significantly higher than the prevaccination titers. During the whole study there were no statistically significant differences in humoral response between patients with breast cancer and healthy women. The results of the present study clearly show that women with breast cancer, including those undergoing chemotherapy, were able to develop a good serological response to influenza vaccine.


Assuntos
Formação de Anticorpos/imunologia , Neoplasias da Mama/imunologia , Vacinas contra Influenza/imunologia , Adulto , Idoso , Antineoplásicos/uso terapêutico , Neoplasias da Mama/tratamento farmacológico , Feminino , Humanos , Pessoa de Meia-Idade , Vacinação
19.
Artigo em Polonês | MEDLINE | ID: mdl-12818136

RESUMO

In 28 children aged 2.3-12 years born with birth weight less than -2 SD for gestational age we assessed growth according to birth weight and height, duration of gestation, mid- parental height, and somatotropic axis. All children were subjected to auxological evaluation every 3 months. The assessment included changes of height for chronological age standard deviation score (DeltaH SDS CA), height for bone age (DeltaH SDS BA), growth velocity (GV SDS) and height - mid-parental height (H SDS-MPH SDS). We observed a significant growth improvement in children with lower birth weight (r=-0.5, p<0.0059), a positive correlation between IGF-1 level and catch -up growth (DeltaH SDS CA) (r=0.5, p<0.048) and maximum GH level (stimulation test) and growth velocity (GV SDS) (r=0.8, p<0.01). These data suggest that children with lower IGF-1 and GH levels, as well as birth weight within -2 SDS could be treated with growth hormone. However, this theory requires further evaluation.

20.
Artigo em Polonês | MEDLINE | ID: mdl-12818137

RESUMO

The aim of the study was to estimate growth curve and body mass during and after a treatment of ALL. Retrospective study group included 48 children (27 boys and 21 girls). The age at the start of the treatment varied from 1.4 up 17 years, during our evaluation 4.6-25.4 years. Patients were treated according to modified American (New York Protocol) and German (BFM) protocols. 43 children received central nervous system radiation in a dose of 14-24 Gy. All children completed the treatment protocol and are in the remission. Growth velocity and body mass were estimated during and after the ALL treatment. During the treatment growth retardation was observed at 34 children (2/3 patients). No significant difference in growth velocity was found between group of standard and high risk of ALL. Combined radiotherapy and chemotherapy has probably more influence for growth retardation than chemotherapy alone. Obesity was stated at 13 patients (27%), mostly boys. After the treatment 9 children were permanently obese. Body mass deficiency was found at 5 patients during the treatment and was the same when the treatment protocol was completed.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...