RESUMEN
OBJECTIVE: To elucidate an etiology in a case with persistent oligohydramnios by prenatal diagnosis and actively treat the case to achieve good prognosis. METHODS: We performed whole exome sequencing (WES) of DNA from the fetus and parents. Serial amnioinfusions were conducted until birth. Pressors were required to maintain normal blood pressure. The infant angiotensin-converting enzyme (ACE) activity, angiotensin II (Ang II, a downstream product of ACE), and compensatory enzymes (CEs) activities were measured. Compensatory enzyme activities in plasma from age-matched healthy controls were also detected. RESULTS: We identified a fetus with a severe ACE mutation prenatally. The infant was born prematurely without pulmonary dysplasia. Hypotension and anuria resolved spontaneously. He had almost no ACE activity, but his Ang II level and CE activity exceeded the upper limit of the normal range and the upper limit of the 95% confidence interval of controls, respectively. His renal function also largely recovered. CONCLUSION: Fetuses with ACE mutations can be diagnosed prenatally through WES. Serial amnioinfusion permits the continuation of pregnancy in fetal ACE deficiency. Compensatory enzymes for defective ACE appeared postnatally. Renal function may be spared by preterm delivery; furthermore, for postnatal vasopressor therapy to begin, improving renal perfusion pressure before nephrogenesis has been completed.
Asunto(s)
Oligohidramnios , Peptidil-Dipeptidasa A , Embarazo , Recién Nacido , Masculino , Femenino , Humanos , Peptidil-Dipeptidasa A/genética , Diagnóstico Prenatal , Feto , Oligohidramnios/diagnóstico por imagen , Oligohidramnios/terapia , Parto ObstétricoRESUMEN
<p><b>OBJECTIVE</b>To explore the relationship between the levels of estrogen (E2) and progestogen (P), expression of estrogen receptor (ER) and progesterone receptor (PR) and cervical cancer.</p><p><b>METHODS</b>A case-control study with hospital and community controls was employed. The levels of serum estrogen and progesterone were detected by enzyme linked immunosorbent assay (ELISA) for 141 cervical cancer cases, 137 uterine myoma patients as controls and 129 health women as controls. ER and PR were measured by immunohistochemistry sABC in cervix tissues from patients with cervical cancer and uterus myoma as well.</p><p><b>RESULTS</b>The levels of estrogen (47.49 ng/mL) and progesterone (2.34 pg/mL) in cases were significantly higher than those in both control groups. The association between estrogen and cervical cancer was significant both before and after menopause-adjusted, with over 89% of attributable risk percentage (ARP), and showed a dose-response relation. Using the lowest value of 2 pg/ml in follicular phase as cut off point for progesterone, there were no statistically significant difference between cases and controls, and neither in progesterone nor in premenopausal. The expressions of ER and PR in cases were lower than those in controls, even after being menopause-adjusted.</p><p><b>CONCLUSION</b>The high level of endogenous estrogen and progestogen might increase the risk of cervical cancer. Compared with progestogen, estrogen showed a higher risk that was not influenced by menopause. In some sense, ER and PR may exert certain protective effect on progressing of cervical carcinogenesis.</p>
Asunto(s)
Adulto , Femenino , Humanos , Persona de Mediana Edad , Estudios de Casos y Controles , Ensayo de Inmunoadsorción Enzimática , Estrógenos , Sangre , Inmunohistoquímica , Leiomioma , Sangre , Metabolismo , Posmenopausia , Sangre , Metabolismo , Progesterona , Sangre , Receptores de Estrógenos , Receptores de Progesterona , Factores de Riesgo , Neoplasias del Cuello Uterino , Sangre , Metabolismo , Neoplasias Uterinas , Sangre , MetabolismoRESUMEN
<p><b>OBJECTIVE</b>To explore the effects of estrogen (E(2)) and progesterone (P) on cervical cancer and the synergistic action between estrogen, progesterone and human papillomaviruses (HPV).</p><p><b>METHODS</b>Hoted-start polymerase chain reaction (HS-PCR) was used to detect HPVs, HPV16 and ELISA was used to assay E(2) and P on 141 cases with cervical cancer and on 129 healthy controls.</p><p><b>RESULTS</b>Positive rates of HPVs and HPV16 were 75.2% and 46.8% respectively in cervical cancer group, significantly higher than that in controls. Levels of estrogen and progesterone in case group were significantly higher than that in controls and a dose-responded relationship between the levels of estrogen and cervical cancer was revealed. Estrogen and HPV showed an additive interaction in the development of cervical cancer.</p><p><b>CONCLUSION</b>HPV16 infection played a principal role in the development of cervical cancer. The high levels of entogenous estrogen could increase the risk of cervical cancer and might serve as a cofactor in the development of HPV-induced cervical cancer.</p>