Estudo do Aborto Recorrente. Ainda há Lugar para a Histerossalpingografia?

Overview and Aims: The investigation of recurrent miscarriage includes the study of uterine morphology. 3D ultrasound allows the evaluation of the morphology (cavity and outer contour), reducing the need for invasive tests such as hystero - salpingography (HSG), hysteroscopy and laparoscopy. We evaluated the diagnostic agreement between HSG and 3D ultrasound in the study of the uterine cavity morphology. Study Design: Prospective study. Population: A total of 34 women referred to our institution with a history of recurrent miscarriage. Methods: To compare the results of 3D ultrasound and HSG, all women underwent both exams. 3D scans were performed by the same operator and HSG were evaluated by the same clinician. The concordance study was performed using the Kappa coefficient. Results: With 3D ultrasound and HSG, uterine anomalies were diagnosed in 52.9% (18/34) and 47% (16/34) of the cases and congenital malformations were the most frequent findings. The agreement between the two techniques was excellent(K = 0.825). The three cases of diagnostic disagreement were analyzed. Conclusion: A high level of diagnostic agreement was observed between HSG and 3D ultrasound. The 3D ultrasound, a low cost and well tolerated technique, when performed by an experienced operator, is the first line exam to study the uterine morphology in women with recurrent miscarriage.

The Photoreceptor Cell-Specific Nuclear Receptor Gene (PNR ) Accounts for Retinitis Pigmentosa in the Crypto-Jews from Portugal (Marranos), Survivors from the Spanish Inquisition

The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic study of a highly consanguineous endogamic population of Crypto-Jews of Belmonte affected with autosomal recessive retinitis pigmentosa (RP). A genome-wide search for homozygosity allowed us to localize the disease gene to chromosome 15q22-q24 (Zmax=2.95 at θ=0 at the D15S131 locus). Interestingly, the photoreceptor cell-specific nuclear receptor (PNR) gene, the expression of which is restricted to the outer nuclear layer of retinal photoreceptor cells, was found to map to the YAC contig encompassing the disease locus. A search for mutations allowed us to ascribe the RP of Crypto-Jews of Belmonte to a homozygous missense mutation in the PNR gene. Preliminary haplotype studies support the view that this mutation is relatively ancient but probably occurred after the population settled in Belmonte.