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Background: SOX2 disorders are associated with anophthalmia-esophageal-genital syndrome or microphthalmia, syndromic 3 (MCOPS3- # 206900). Case Report: We describe a third fetal case with a de novo 3q26.32q26.33 deletion extending for 4.31 Mb, detected in a 15-week fetus. After legal interruption of pregnancy, at autopsy, the fetus presented bilateral microphthalmia, right cleft lip and palate, bilateral cerebral ventriculomegaly and dilated third ventricle, microcystic left lung, and intestinal malrotation. Histologically, the left lung showed congenital pulmonary airway malformation (CPAM) type 2. Retinal dysplasia was found in both eyes. Discussion/Conclusion: The human SOX2 gene (OMIM #184429) is located on chromosome 3 at position q26.3-27 and encodes a transcription factor involved in the development of the central and peripheral nervous systems, retina, and lung. In our case, the combination of cerebral, retinal, and pulmonary anomalies, not previously described, are consistent with SOX2 haploinsufficiency due to chromosomal deletion.
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Fenda Labial , Fissura Palatina , Gravidez , Feminino , Humanos , Fenda Labial/genética , Fissura Palatina/genética , Deleção Cromossômica , Fatores de Transcrição/genética , Análise Citogenética , Hibridização Genômica Comparativa , Fatores de Transcrição SOXB1/genéticaRESUMO
Introduction: Fusobacterium nucleatum is a gram-negative anaerobe, a constituent of the oral microflora, responsible for chronic periodontal diseases. Case Report: We describe a preterm infant with premature rupture of membranes at 23 weeks of gestational age due to F. nucleatum. The newborn died soon after birth. Placental histopathology showed severe necrotizing chorioamnionitis and funisitis with gram-negative bacilli. After autopsy, F. nucleatum was microbiologically isolated from the lung. The mother had dental hygiene 1 day before delivery, presenting mild and diffuse gingivitis. At admission, she had leukocytosis, foul-smelling vaginal discharge, but no fever. Conclusion: This case highlights the possibility of F. nucleatum spreading from oral cavity after a dental procedure to the placenta with chorioamnionitis and fetal infection. This raises the question of whether dental procedures during pregnancy should be accompanied by prophylactic antibiotics.
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Corioamnionite , Morte Perinatal , Sepse , Gravidez , Humanos , Recém-Nascido , Feminino , Placenta/patologia , Corioamnionite/microbiologia , Fusobacterium nucleatum , Recém-Nascido PrematuroRESUMO
INTRODUCTION: 24 % of abortion in Italy are repeated procedure. The cause of repeated abortion can be traced back to the inadequacy of the contraceptive counseling during the previous admission or to the adoption of an ineffective contraception method. This study aims to evaluate the Italian situation on the perceived quality of contraceptive counselling by patients undergoing abortion. The second aim is to verify if the chosen methods were available for immediate start. STUDY DESIGN: Multicentric, prospective, non-interventional, non-randomized, non-pharmacological clinical observational study. We analyzed anonymous questionnaires on contraceptive counseling and LARC (Long Acting Reversable Contraceptives) availability and SARC (Short Acting Reversable Contraceptives) prescription at hospital discharge, distributed to women who requested abortion. RESULTS: 1074 participants on 15 hospitals through Italy. 82 % of the interviewees reported that they had received correct information regarding contraception. 74 % of the patients who chose LARC methods reported to have them inserted at the time of abortion. 73 % of women who had chosen a SARC method stated that they had received the prescription before discharge. After contraceptive counselling, we reported a significative reduction of "none or natural methods use" and a significant increase of SARC and LARC use compared to before the abortion. CONCLUSION: Contraceptive counselling could allow a better contraceptive choice in patient who required abortion and we hope that future strategies will implement LARC choice. We think that a greater availability of LARC at an affordable price at the time of abortion could improve LARC choice. In case of SARC choice, we have to implement the prescription at hospital discharged.
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Aborto Induzido , Aconselhamento , Humanos , Feminino , Adulto , Aborto Induzido/métodos , Aborto Induzido/psicologia , Aconselhamento/métodos , Estudos Prospectivos , Itália , Adulto Jovem , Anticoncepção/métodos , Gravidez , Inquéritos e Questionários , Adolescente , Comportamento Contraceptivo/estatística & dados numéricos , Comportamento Contraceptivo/psicologia , Comportamento de EscolhaRESUMO
OBJECTIVES: The purpose of this study was to evaluate the feasibility of visualization and measurement of the pericallosal artery during early stages of gestation. METHODS: The study group comprised 80 pregnant women between 12 and 21 weeks' gestation who attended our ultrasound unit. Transabdominal or transvaginal sonography was performed to obtain the optimal angle of a midsagittal section. High-definition flow power Doppler imaging was used to visualize the pericallosal artery. In a sagittal plane, the lengths of the pericallosal artery were measured using a straight line to connect the most anterior and posterior points. All patients were reexamined at a later stage of pregnancy to verify the existence of the corpus callosum and pericallosal artery. RESULTS: Visualization of the pericallosal artery was evident in 71 fetuses, in all of whom the biparietal diameter was greater than 20 mm. We were able to verify normal anatomy and the existence of the pericallosal artery in these fetuses between 30 and 32 weeks' gestation. A positive linear association was found between the length of the pericallosal artery and the gestational age (R(2) = 0.95) and the biparietal diameter at each gestational age (R(2) = 0.99). CONCLUSIONS: Our data show that it is feasible to visualize and measure the pericallosal artery from an early stage of gestation, and this measurement could be an indirect indication of normal corpus callosum development.
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Corpo Caloso/irrigação sanguínea , Corpo Caloso/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adulto , Análise de Variância , Corpo Caloso/embriologia , Estudos de Viabilidade , Feminino , Idade Gestacional , Humanos , Gravidez , Análise de RegressãoRESUMO
Citrobacter koseri is a facultative anaerobic, motile, non-spore-forming Gram-negative bacillus, which belongs to the family of Enterobacteriaceae. Severe infections due to Citrobacter spp. have been reported in the urinary tract, respiratory airways, intra-abdominal organs, skin and soft tissue, eye, bone, bloodstream, and central nervous system. In newborns, C. koseri is a well-known cause of meningitis, cerebral abscesses, brain adhesions, encephalitis, and pneumocephalus. Infection can be acquired through vertical maternal transmission or horizontal hospital settings; however, in many cases, the source is unknown. Preterm premature rupture of membranes (PPROM), caused by C. koseri, has rarely been described. Herein, we describe a case of PPROM at 16 weeks and 3 days of gestation, leading to anhydramnios. The parents opted for legal termination of the pregnancy, as the prognosis was very poor. C. koseri was isolated postmortem from a placental subamniotic swab and parenchymal sample, as well as fetal blood and lung. To the best of our knowledge, this is the first case of early second-trimester PPROM in which C. koseri infection was demonstrated.
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Objectives. To assess the risk of very low birth weight (VLBW) and extremely low birth weight (ELBW) attributable to second trimester amniocentesis. Methods. Records of 4,877 consecutive amniocentesis, performed between 1997 and 2003, were analyzed. Only VLBW and ELBW in the study population (exposed) and in the control group (unexposed) were evaluated. Comparisons were made between the amniocentesis group versus nonexposed. Odds ratios (OR) and 95% confidence intervals (95% CI) were calculated for VLBW and ELBW classes. Results. In the study population, the VLBW were 35 (0.71%) and the ELBW were 20 (0.41%). In the control group, the VLBW were 220 (0.67%) and the ELBW were 112 (0.34%). The Odds ratios of the VLBW between the study and the control group did not show any statistical significant risk (OR = 1.07, 95% CI = 0.72-1.54). Also in ELBW odds ratios between study and control group were not statistically significant (OR = 1.20, 95% CI = 0.7-1.95). Conclusions. No effect of the second trimester amniocentesis was noted on VLBW and ELBW.
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OBJECTIVES: To assess the risk of fetal loss attributable to second trimester amniocentesis in singleton pregnancies through a cross-sectional study. METHODS: Records of 5043 consecutive second trimester amniocentesis, performed by a single operator between 1997 and 2003, were analyzed. Fetal loss post amniocentesis was calculated by grouping pregnant women in age classes and assessing observed/expected (O/E) rate. RESULTS: Total fetal losses were 40 (0.81%): 33 cases (0.67%) occurred before the 24th week, 37 cases (0.76%) before the 28th gestational week, and 3 cases (0.06%) after the 28th week of pregnancy. An age-dependent increase of the rate of fetal loss, not statistically significant (Chi-Square = 0.349, p = 0.505) was observed. The total O/E ratio values did not show any statistically significant risk (O/E ratio = 1.25, CI = 0.86-1.64). The analysis of the single age classes did not detect any statistical significance. The excess fetal loss rate associated with amniocentesis was 0.16%. CONCLUSIONS: No effect of the 2nd trimester amniocentesis was noted on fetal loss.
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Amniocentese/efeitos adversos , Morte Fetal/etiologia , Segundo Trimestre da Gravidez , Adulto , Fatores Etários , Transtornos Cromossômicos/epidemiologia , Feminino , Morte Fetal/epidemiologia , Idade Gestacional , Humanos , Itália/epidemiologia , Gravidez , Fatores de RiscoRESUMO
Anti-müllerian hormone (AMH) appears to regulate follicular growth. The aim of this study was to investigate AMH serum levels in patients affected by secondary amenorrhea. The AMH was significantly lower (or undetectable) in patients with premature ovarian failure (POF) and significantly higher in patients affected by polycystic ovary syndrome (PCOS). We suggest that serum AMH evaluation could be associated with that of established hormones, such as FSH, LH, and E2, when the activity of hypothalamo-pituitary-ovarian axis is investigated.
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Amenorreia/sangue , Amenorreia/diagnóstico , Glicoproteínas/sangue , Síndrome do Ovário Policístico/sangue , Síndrome do Ovário Policístico/diagnóstico , Insuficiência Ovariana Primária/sangue , Insuficiência Ovariana Primária/diagnóstico , Hormônios Testiculares/sangue , Adolescente , Adulto , Amenorreia/etiologia , Hormônio Antimülleriano , Biomarcadores/sangue , Feminino , Humanos , Síndrome do Ovário Policístico/complicações , Insuficiência Ovariana Primária/complicações , Medição de Risco/métodos , Fatores de RiscoRESUMO
BACKGROUND: Raised insulin levels have been shown to contribute to ovarian overproduction of androgens. Hyperinsulinemia, usually associated with polycystic ovary syndrome (PCOS), brings about greater ovarian endocrine and morphological responses to ovulation induced by follicle-stimulating hormone (FSH). This indicates that elevated levels of insulin play a role in the endocrine and paracrine control of the ovaries. OBJECTIVE: The aim of the present study was to investigate whether basal insulin levels influence ovarian response to FSH in healthy women (non-PCOS) undergoing assisted reproduction by in vitro fertilization-embryo transfer (IVF-ET). METHODS: The study included 36 consecutive women, 27-45 years old, undergoing IVF-ET for tubal-factor or male-factor infertility. Serum insulin levels were determined on the day of administration of gonadotropin-releasing hormone analog (GnRHa) and on the first day of FSH administration. RESULTS: Mean insulin levels were 6 +/- 3 and 7 +/- 3 microU/ml on the day of GnRHa and FSH administration, respectively. No correlations were found between basal insulin level, days of treatment, total FSH dose, estradiol level and the number of oocytes retrieved. CONCLUSIONS: The results of the present study show that normal levels of insulin do not seem to influence ovarian response to FSH in non-PCOS women. In all patients included in our study, serum insulin levels did not correlate with IVF stimulation data (days of stimulation, total FSH dose) nor with IVF-ET outcome. Thus the study demonstrates that, in patients who are not insulin-resistant, insulin does not correlate with ovarian response to FSH administration.