RESUMO
OBJECTIVES: To evaluate the prevalence of chromosomal anomalies in fetuses affected by increased nuchal translucency(iNT >99Th centile), cystic hygroma (CH) and cases progressing to fetal hydrops (NIHF) in order to correlate this result to prognosis and perinatal fetal outcomes, improving patient's counseling. METHODS: From January 2020 to December 2023, first trimester screening according to FMF criteria were performed in "Maternal fetal medicine Unit" of Foggia's hospital. We studied and collected clinical data of fetuses affected by nuchal translucency >99th centile (iNT), CH and cases progressing to Fetal Hydrops (non-immune fetal hydrop, NIFH). In these selected cases, we evaluated fetal Karyotype to demonstrate the presence of chromosomal abnormalities, associated to fetal structural anomalies and different pregnancy outcome. RESULTS: We have evaluated 45 cases of iNT, CH, and NIFH, identified by ultrasound during first trimester screening. Of these 45 pregnant women, four were lost to follow-up. Of the 41 pregnancies, 20 cases (48.8%) delivered at our division with newborns discharged in good health. Of the 21 patients (51.2%) who miscarried, only two miscarried spontaneously; the other 19 decided on a medical termination of pregnancy (MTP). The 19 patients who decided for MTP showed genetic abnormalities and/or malformation. The 20 cases of fetuses discharged as healthy newborns were enrolled with the following diagnoses: 5 had a diagnosis of CH (20% of cases), 1 case of NIFH (5% of cases), and 14 of iNT (75% of cases). All these fetuses had a normal karyotype and no major malformations. CONCLUSIONS: Isolated CH diagnosis is more frequent than described in Literature (5 cases out of 12: 41.7%) and their prognosis are better than previously described, with the same outcomes of fetuses with iNT without associated anomalies. The possibility of early diagnosis of chromosomal anomalies, associated malformations or the evolution into hydrops is essential for a complete consultation.
RESUMO
BACKGROUND AND PURPOSE: Stereotactic Ablative Radiotherapy (SABR) is emerging as a valid alternative to surgery in the oligometastatic setting in soft tissue sarcomas (STS), although robust data are lacking. The aim of this study is to evaluate toxicity and efficacy of SABR in oligometastatic STS. MATERIALS AND METHODS: This is a retrospective multicenter study including adult patients affected by stage IV STS, treated with SABR for a maximum of 5 cranial or extracranial metastases in up to 3 different organs. SABR was delivered with ablative purposes. Study endpoints were overall survival (OS), local control (LC), distant progression free survival (DPFS), time to polymetastatic progression (TTPP), time to new systemic therapy (TTNS) and toxicity. RESULTS: From 10 Italian RT centers, 138 patients (202 metastases) treated between 2010 and 2022 were enrolled in the study. Treatment was generally well tolerated, no acute or late toxicity ≥ G3 was recorded. Median follow up was 42.5 months. Median OS was 39.7 months. Actuarial OS at 1 and 2 years was 91.5 % and 72.7 %. Actuarial LC at 1 and 2 years was 94.8 % and 88.0 %. Median DPFS was 9.7 months. Actuarial DPFS at 1 and 2 years was 40.8 % and 19.4 %. CONCLUSION: SABR is a safe and effective approach for the treatment of oligometastatic sarcoma. One out of 5 patients is free of progression at 2-years.
Assuntos
Radiocirurgia , Sarcoma , Adulto , Humanos , Radiocirurgia/efeitos adversos , Intervalo Livre de Progressão , Oncologia , Sarcoma/radioterapia , Itália , Estudos RetrospectivosRESUMO
Most tumors are generated and evolve under high-nutrient conditions, yet therapy does not include dietary changes generating a hostile environment for cancer cells. Because fasting promotes the most drastic change in the levels of plasma macro- and micro-nutrients, and consequently in glucose and growth factors, it has the potential to maximize cancer cell sensitization.
RESUMO
The polymerase chain reaction (PCR) is one of the most efficient techniques for measuring the viral load of HIV-infected samples. Determination of the specificity of PCR products is usually based on Southern blotting and hybridization of the amplified DNA to radioactive oligonucleotide probes specific for sequences comprised between the PCR primers. The recent introduction of capillary electrophoresis (CE) for identification of HIV-1 and HTLV-I PCR products appears interesting in light of its reproducibility, sensitivity and because it is fast and suitable for detection of DNA/DNA and DNA/RNA hybrids. We demonstrate that specific hybridization of a HIV-1 oligonucleotide probe to single-stranded DNA obtained by unbalanced PCR is detectable by capillary electrophoresis. This enabled us the application of a one-step, non-radioactive protocol to demonstrate the specificity of amplification of HIV-1 genomic sequences by PCR. This procedure is simple, reproducible and is suggested as an integral part of automated diagnostic systems based on the use of laboratory work stations for DNA isolation, preparation of PCR reactions and analysis of PCR products.
Assuntos
DNA Viral/química , Eletroforese/métodos , HIV-1/genética , Oligonucleotídeos/química , Sequência de Bases , DNA Viral/isolamento & purificação , Genoma Viral , Dados de Sequência Molecular , Hibridização de Ácido Nucleico , Reação em Cadeia da PolimeraseRESUMO
OBJECTIVE: To define the clinical significance of non-organ specific autoantibody positivity in patients in whom routine clinical and laboratory examinations did not detect any disease that might have caused the serological finding. METHODS: Out of 1,120 patients consecutively admitted to an outpatient rheumatology clinic, 28 were referred for the evaluation of an autoantibody positivity unrelated to the clinical status. These patients and 28 sex- and age-matched controls underwent a specific work-up with the aim of detecting any underlying infection or autoimmune disease. RESULTS: Eight of the 28 patients (28.5%) were found to be affected by a previously undetected disease: 3 chronic hepatitis C, 3 Sjögren's syndrome, and 2 autoimmune thyroiditis. The remaining 20 did not show any autoimmune or hepatic disease, although 4 of them showed active infection by HBV (n = 1) or HGV (n = 3) and 15 had had a previous infection by hepatotropic viruses (HBV, CMV or EBV). After a follow-up lasting 6-54 months, none of the last 20 patients developed any autoimmune or chronic hepatic disease. CONCLUSIONS: A diagnostic work-up is necessary in patients presenting with unexpected autoantibody positivity in order to detect an underlying pre-clinical autoimmune disease and/or unexpected hepatic infection. Patients in whom such a work-up fails to point out any condition should be further followed in order to make an early diagnosis of autoimmune disease.
Assuntos
Autoanticorpos/sangue , Anticorpos Anti-Hepatite C/sangue , Doenças Reumáticas/epidemiologia , Doenças Reumáticas/imunologia , Adolescente , Adulto , Idoso , Criança , Feminino , Seguimentos , Vírus da Hepatite B/imunologia , Hepatite C Crônica/epidemiologia , Hepatite C Crônica/imunologia , Herpesvirus Humano 4/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Pacientes Ambulatoriais , Estudos SoroepidemiológicosRESUMO
The authors report the case of a 38-year-old woman who underwent total laparohysterectomy for multiple uterine leiomyomas and right adnexectomy following the intraoperative finding of a right tubal abortion.
Assuntos
Leiomioma/complicações , Gravidez Tubária/diagnóstico , Neoplasias Uterinas/complicações , Anexos Uterinos/cirurgia , Adulto , Feminino , Humanos , Histerectomia , Leiomioma/cirurgia , Neoplasias Primárias Múltiplas , Gravidez , Gravidez Tubária/complicações , Neoplasias Uterinas/cirurgiaRESUMO
BACKGROUND: The aim of this study was to compare the effects of two different therapies in menopausal women with uterine fibroids. METHODS: Thirty menopausal women with uterine fibroids were evaluated. They were randomized into two groups: the patients included in Group A were treated with transdermal hormonal therapy with 50 micrograms of ethynilestradiol and 5 mg of MAP; the patients in Group B with 2.5 mg of tibolone. The patients of both the groups have been treated for one year. Plasmatic levels of E2, FSH and LH were evaluated before and after treatment and the volume of fibroids was compared by transvaginal ultrasonography at the beginning of the study, after 6 months and after 1 year. RESULTS AND CONCLUSIONS: The results suggest that transdermal hormonal therapy increases significantly the volume of the fibroids while tibolone does not.
Assuntos
Terapia de Reposição de Estrogênios/métodos , Leiomioma/tratamento farmacológico , Menopausa/efeitos dos fármacos , Neoplasias Uterinas/tratamento farmacológico , Antineoplásicos Hormonais/administração & dosagem , Estradiol/administração & dosagem , Estradiol/sangue , Feminino , Humanos , Leiomioma/sangue , Acetato de Medroxiprogesterona/administração & dosagem , Pessoa de Meia-Idade , Norpregnenos/administração & dosagem , Fatores de Tempo , Neoplasias Uterinas/sangueRESUMO
8-Hydroxydeoxyguanosine (8-OH-dG) is widely recognized as a marker of DNA oxidation. Until now, 8-OH-dG has been measured by high-performance liquid chromatography or by gas chromatography-mass spectrometry. A method is reported that detects oxidative derivatives of deoxynucleosides by micellar electrokinetic capillary chromatography. Single-stranded DNA was incubated in the presence of 50 mM hydrogen peroxide-10 mM ascorbic acid and hydrolysed by enzymatic digestion. The order of electrophoretic mobilities of deoxynucleosides was dC > dA > T > dG > 8-OH-dG. 8-OH-dG was determined by introducing a laboratory-prepared internal standard. Two additional major oxidative derivatives were identified by comparing the electropherogram of the oxidized DNA with that of the oxidized standard deoxyguanosine.
Assuntos
Adutos de DNA/isolamento & purificação , Desoxiguanosina/análogos & derivados , 8-Hidroxi-2'-Desoxiguanosina , Cromatografia , Adutos de DNA/química , DNA de Cadeia Simples/química , Desoxiguanosina/isolamento & purificação , Eletroquímica , Eletroforese , Micelas , Desnaturação de Ácido Nucleico , Oxirredução , Espectrofotometria UltravioletaRESUMO
Objectives To determine 1. The prevalence and incidence of HGV infection in patients with chronic hepatitis C and 2. Its influence on the clinical outcome of chronic hepatitis C. Patients and methods Sixty-five patients with non-parenteral chronic hepatitis C virus infection were investigated for HGV infection using the polymerase chain reaction for HGV-RNA and by detecting serum antibodies against the E2 protein of HGV (anti-E2 antibodies). Results HGV-RNA in serum was found in 12 patients (18.4%) and anti-E2 antibodies in 4 (6.1%). No difference in age, sex, liver histology, basal ALT or ?GT was found between HGV positive and negative cases. Thirty-four patients (6 with HGV-RNA) were followed-up for 4 years; 4 of the 6 lost HGV-RNA, one of whom seroconverted to anti-E2. None of the 28 HGV-RNA negative cases presented HGV infection during the follow-up period. The presence of HGV infection did not influence either basal HCV viremia or the response of HCV to IFN therapy. Conclusions The study demonstrated that HGV had an intense circulation through non-classic parenteral routes, but its impact on HCV replication and liver disease is negligible.
RESUMO
BACKGROUND AND AIM: To evaluate the prevalence of goitre by means of urinary iodine excretion, palpatory and ultrasonographic thyroid examinations in a heterogeneous population living by the sea. METHODS AND RESULTS: We used a special self-administered questionnaire to evaluate thyroid size, iodine intake, eating habits and cardiovascular risk factors in 600 subjects with a mean age of 45 +/- 17 years: 253 men (42.3%) and 347 women (57.7%). Urinary iodine excretion was low (72.1 +/- 15.7 microg/L; median 71.2) and associated with ultrasonographic evidence of an enlarged thyroid (16%) or structural thyroid abnormalities (30%), thus allowing us to define the Salerno Gulf as a mild-moderate area of endemic goitre. All of the subjects ate a Mediterranean diet, with a mean of two portions of fish/week. The cardiovascular risk factors considered were obesity, cigarette smoking, hypertension, hypercholesterolemia, hypertriglyceridemia and diabetes, the prevalences of which were in line with those reported in other studies of similar age-matched populations. CONCLUSIONS: The moderate intake of fish and the consumption of a Mediterranean diet did not prevent goitre. Iodine deficiency and subsequent goitre endemia are also present at sea level, probably because of a diet based on local products grown on soil with a low iodine content or possible seawater, soil and air environmental pollution that may interfere with the availability of iodine. The assessment of iodine deficiency should therefore involve the entire population and not only subjects living far from the sea.
Assuntos
Doenças Cardiovasculares/epidemiologia , Dieta Mediterrânea , Bócio/epidemiologia , Iodo/deficiência , Iodo/urina , Programas de Rastreamento , Adulto , Idoso , Feminino , Bócio/diagnóstico , Bócio/diagnóstico por imagem , Bócio Endêmico/diagnóstico , Bócio Endêmico/diagnóstico por imagem , Bócio Endêmico/epidemiologia , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Palpação , Prevalência , Fatores de Risco , Inquéritos e Questionários , Glândula Tireoide/diagnóstico por imagem , UltrassonografiaRESUMO
A case of unusual combination of polycystic ovaries (PCO), adrenal non-functioning adenoma and severe hirsutism in a young woman from Southern Italy is reported here. A 18-yr-old woman was referred to our Department because of oligomenhorrea, acne and severe hirsutism. During evaluation of the cause of her symptoms, PCO and small left adrenal adenoma were revealed. Although adrenal androgen excess has been shown to dysregulate the hypothalamic-pituitary-gonadal axis, causing PCO-like syndrome, normal circulating androgen values were found. Androgens and cortisol levels were completely suppressed by low-dose dexamethasone test, excluding autonomous steroid secretion by the adrenal mass. Normal response of cortisol and adrenal androgens to corticotropin stimulation test permitted the exclusion of functional adrenal hyperandrogenism. Despite normal LH/FSH ratio, anovulatory cycles were revealed by persistently low progesterone values. Glucose and insulin response to oral glucose tolerance test did not differ from those of normal population. The patient showed an improvement of acne and hirsutism on therapy with estro-progestins (EP). In conclusion, despite normal pattern of serum androgens and LH/FSH ratio, this patient had anovulatory cycles and good response to the EP treatment. These findings suggest that ultrasonography evidence of PCO together with anovulatory cycles contributed to her clinical picture whereas adrenal adenoma seemed to have no relevant role. This case report underlines the need of cautious interpretation of imaging results and clinical signs of severe hirsutism, reminding one that the true cause of a medical problem may not be the most evident.