Prenatal Nonvisualization of the Gallbladder: A Diagnostic and Prognostic Dilemma.

INTRODUCTION: Nonvisualization of the fetal gallbladder has been associated with benign conditions such as isolated gallbladder agenesis or severe diseases such as biliary atresia (BA). Recently, gamma-glutamyl transpeptidase (GGTP) fetal blood levels were reported as useful after 22 weeks. OBJECTIVE: To determine the contribution of fetal blood GGTP levels after 22 weeks, based on 2 cases. Case 1: 20+4-week secundipara, with subcutaneous edema and pleural effusion. At 24+4 weeks, the gallbladder could not be visualized. Progressive hydrops deterioration was observed. 32+2-week magnetic resonance imaging (MRI) confirmed nonvisualization of the gallbladder. BA was suspected. The patient decided to terminate the pregnancy and fetal blood sample was obtained at feticide. GGTP was 573 IU/L. Fetal necropsy confirmed BA. Case 2: At the 22+6- and 24+0-week ultrasound scan, the gallbladder could not be visualized. Amniocentesis was offered, but declined by the patient. MRI at 35+0 weeks failed also to visualize it. Fetal cord blood sample at delivery was obtained, and GGTP was 129 IU/L. Ultrasound confirmed gallbladder agenesis with normal extra- and intrahepatic bile ducts. CONCLUSION: Cases of nonvisualized gallbladder after 22 weeks have rarely been reported in the literature. Until now, no standard management has been proposed. Our cases support the potential usefulness of fetal blood digestive enzymes.

Cervical pessary to prevent preterm birth in women with twin gestation and sonographic short cervix: a multicenter randomized controlled trial (PECEP-Twins).

BACKGROUND: Spontaneous preterm birth (SPB) is the leading cause of perinatal morbidity and mortality. In twins, the rate of preterm birth is higher than in singletons; interventions to prevent preterm birth are needed in this high-risk population. OBJECTIVE: We sought to test whether a cervical pessary reduces the preterm birth rate in twin pregnancies with sonographic short cervix. STUDY DESIGN: A prospective, open-label, multicenter, randomized clinical trial was conducted in 5 hospitals in Spain. The ethics committees of all participating hospitals approved the protocol. The trial was registered as ClinicalTrials.gov, number NCT01242410. Eligible women were scanned in Spain. The primary outcome was SPB <34 weeks of gestation. Neonatal morbidity and mortality were also evaluated. RESULTS: Cervical length was measured in 2287 women; 137 pregnant women with a sonographic cervical length ≤25 mm (of 154 detected with a short cervix) were randomly assigned to receive a cervical pessary or expectant management (1:1 ratio). SPB <34 weeks of gestation was significantly less frequent in the pessary group than in the expectant management group (11/68 [16.2%] vs 26/66 [39.4%]; relative risk, 0.41; 95% confidence interval, 0.22-0.76). Pessary use was associated with a significant reduction in the rate of birthweight <2500 g (P = .01). No significant differences were observed in composite neonatal morbidity outcome (8/136 [5.9%] vs 12/130 [9.1%]; relative risk, 0.64; 95% confidence interval, 0.27-1.50) or neonatal mortality (none) between the groups. No serious adverse effects associated with the use of a cervical pessary were observed. CONCLUSION: The insertion of a cervical pessary was associated with a significant reduction in the SPB rate. We propose the use of a cervical pessary for preventing preterm birth in twin pregnancies of mothers with a short cervix.

Cervical pessary in pregnant women with a short cervix (PECEP): an open-label randomised controlled trial.

BACKGROUND: Most previous studies of the use of cervical pessaries were either retrospective or case controlled and their results showed that this intervention might be a preventive strategy for women at risk of preterm birth; no randomised controlled trials have been undertaken. We therefore undertook a randomised, controlled trial to investigate whether the insertion of a cervical pessary in women with a short cervix identified by use of routine transvaginal scanning at 20-23 weeks of gestation reduces the rate of early preterm delivery. METHODS: The Pesario Cervical para Evitar Prematuridad (PECEP) trial was undertaken in five hospitals in Spain. Pregnant women (aged 18-43 years) with a cervical length of 25 mm or less were randomly assigned according to a computer-generated allocation sequence by use of central telephone in a 1:1 ratio to the cervical pessary or expectant management (without a cervical pessary) group. Because of the nature of the intervention, this study was not masked. The primary outcome was spontaneous delivery before 34 weeks of gestation. Analysis was by intention to treat. This study is registered with ClinicalTrials.gov, number NCT00706264. FINDINGS: 385 pregnant women with a short cervix were assigned to the pessary (n=192) and expectant management groups (n=193), and 190 were analysed in each group. Spontaneous delivery before 34 weeks of gestation was significantly less frequent in the pessary group than in the expectant management group (12 [6%] vs 51 [27%], odds ratio 0·18, 95% CI 0·08-0·37; p<0·0001). No serious adverse effects associated with the use of a cervical pessary were reported. INTERPRETATION: Cervical pessary use could prevent preterm birth in a population of appropriately selected at-risk women previously screened for cervical length assessment at the midtrimester scan. FUNDING: Instituto Carlos III.

Chemical characterization, antioxidant properties and oxygen consumption rate of 36 commercial oenological tannins in a model wine solution.

The chemical composition (CC), antioxidant capacity (AC) and oxygen consumption rate (OCR) of 36 different commercial tannins were measured. The CC was analyzed by total polyphenol index, Bate-Smith, methyl-cellulose, Folin-Ciocalteu, OIV official method and phloroglucinolisis. The AC was measured by different methods (ABTS, CUPRAC, DPPH, FRAP, ORAC) using Trolox as standard. The OCR was measured using a non-invasive method based on luminescence. The results indicate that it is possible to obtain differentiation between procyanidins/prodelphinidins, profisetinidins/prorobinetidins, gallotannins and ellagitannins by PCA based on their CC data. It is also possible to separate condensed from hydrolysable tannins by PCA based on their AC data. The results show that ellagitannins are the fastest oxygen consumers of the various oenological tannins, followed in descending order by condensed tannins and finally gallotannins. The combination of CC, AC and OCR analyses enable to classify tannins according to their effectiveness in protecting wines against oxidation.

Modification of cervical length after cervical pessary insertion: correlation weeks of gestation.

OBJECTIVES: To observe the modifications in cervical length (CL) in patients with and without cervical pessary (Arabin® ASQ 65/25/32) and correlate these modifications with gestational age at delivery. STUDY DESIGN: Prospective study of asymptomatic singleton pregnancies (PECEP-Trial) between weeks 20 + 0 and 23 + 6 with maternal short cervix (<25 mm) randomised into two groups: expectant management and cervical pessary. RESULTS: This study included 380 pregnant women: 190 with pessary and 190 without pessary. Mean CL in both groups at the time of randomisation showed no statistically-significant differences (pessary group: 19.0 mm and management group: 19.0 mm; p = 0.9). Mean CL measured after randomisation was 15.4 mm in patients of the expectant management group and 21.5 mm in the pessary group. These differences were statistically significant (p < 0.0001). When means at randomisation and at the second measurement were compared, CL had decreased by 3.6 mm in the expectant management group and increased by 2.6 mm in the pessary group; this difference was statistically significant (p < 0.0001). Coefficients of correlation showed that among patients of both groups with the same CL at 20 weeks of gestation, those with a pessary gave birth later. CONCLUSIONS: Insertion of an Arabin cervical pessary increased CL in asymptomatic patients with a short cervix, which correlated with shorter gestational age at delivery. The cervical pessary halted the progressive decrease in CL, which correlated with longer gestational age at delivery.

Maternal history and uterine artery Doppler in the assessment of risk for development of early- and late-onset preeclampsia and intrauterine growth restriction.

Objective. To examine the value of one-step uterine artery Doppler at 20 weeks of gestation in the prediction pre-eclampsia (PE) and/or intrauterine growth restriction (IUGR). Methods. A prospective multicentre study that included all women with singleton pregnancies at 19-22 weeks of gestation (w). The mean pulsatility index (mPI) of both uterine arteries was calculated. Receiver-operating characteristics curves (ROC) were drawn to compare uterine artery Doppler and maternal risk factors for the prediction of early-onset PE and/or IUGR (before 32 w) and late-onset PE and/or IUGR. Results. 6,586 women were included in the study. Complete outcome data was recorded for 6,035 of these women (91.6%). PE developed in 75 (1.2%) and IUGR in 69 (1.1%) cases. Uterine Doppler mPI was 0.99 and the 90th centile was 1.40. For 10% false-positive rate, uterine Doppler mPI identified 70.6% of pregnancies that subsequently developed early-onset PE and 73.3% of pregnancies that developed early-onset IUGR. The test had a lower detection rate for the late-onset forms of the disease (23.5% for PE and 30% for IUGR). Maternal history has a low sensitivity in the detection of early-onset cases, although it is better at detecting late-onset PE. Conclusion. Uterine artery Doppler and maternal risk factors seem to select two different populations - early and late-onset PE which might suggest a different pathogenesis.

Caracterización de la disostosis cleidocraneal en una familia / Characterization of Cleidocranial Dysostosis in a Family

Introducción: la displasia o disostosis cleidocraneal es una displasia esquelética rara, afecta huesos largos, especialmente clavículas y en el área máxilo-facial, se pueden apreciar anomalías de número, de erupción, prognatismo y ensanchamiento del arco cigomático. La mutación del gen CBFA1/RUNX2 ubicado en 6p21 considerado el gen maestro en la formación de los huesos y dientes está en relación con esta afección, al igual que otras mutaciones en otros genes.Objetivo: describir el comportamiento de la disostosis cleidocraneal en una familia. Métodos: se describió un estudio clínico, radiográfico y el árbol genealógico de la única familia afectada de disostosis cleidocraneal, descendientes de un inmigrante español que se asentó en el municipio de Urbano Noris y que ejerció un efecto fundador.Resultados: la deformidad con acortamiento de clavículas y la braquicefalia se presentó en el 100 por ciento de los afectados. En la segunda generación no se observó la deformidad producto a que este gen se expresó con penetrancia reducida.Conclusiones: se evidenció un patrón de herencia autosómico dominante, con afectación de 19 miembros, en cinco generaciones, de los cuales solo se estudiaron nueve de ellos; en esta 426 familia se presentó la afección con penetrancia reducida. Se comprobó desproporción entre las dimensiones del cráneo, de la cara y la deformidad torácica por el acortamiento de ambas clavículas en el total de los afectados, que resultó el signo clínico más llamativo. La displasia de ambas clavículas y la braquicefalia fueron las alteraciones radiográficas más frecuentes(AU)

Introduction: cleidocranial dysplasia or dysostosis is a rare skeletal dysplasia that affects long bones, especially clavicles and maxillofacial area, number abnormalities, rash, prognathism and widening of the zygomatic arch can be observed. CBFA1/RUNX2 gene mutation located on, 6p21, considered the master gene in the formation of bones and teeth is associated to the condition, as well as other mutations in other genes.Objective: to describe the behavior of cleidocranial dysostosis in a family.Methods: a clinical, radiographic study and the pedigree of the only one affected family by cleidocranial dysostosis, descendants of a Spanish immigrant who settled in the town of Urbano Noris and exerted a founder effect were described.Results: deformity with shortening of clavicles and brachycephaly was presented in ,100 percent, of patients. In the second generation this deformity was not observed because this gene was expressed with reduced penetrance.Conclusions: an autosomal dominant inheritance pattern, affecting ,19, members in five generations was showed and only nine of them were studied, in this family the condition with reduced penetrance was showed. Discrepancy was found between the dimensions of the skull, face and chest deformity by shortening both clavicles in the total of those affected, which was the most striking clinical sign. Dysplasia of both clavicles and brachycephaly were the most common radiographic abnormalities(AU)

Caracterización de la disostosis cleidocraneal en una familia / Characterization of Cleidocranial Dysostosis in a Family

Introducción: la displasia o disostosis cleidocraneal es una displasia esquelética rara, afecta huesos largos, especialmente clavículas y en el área máxilo-facial, se pueden apreciar anomalías de número, de erupción, prognatismo y ensanchamiento del arco cigomático. La mutación del gen CBFA1/RUNX2 ubicado en 6p21 considerado el gen maestro en la formación de los huesos y dientes está en relación con esta afección, al igual que otras mutaciones en otros genes. Objetivo: describir el comportamiento de la disostosis cleidocraneal en una familia. Métodos: se describió un estudio clínico, radiográfico y el árbol genealógico de la única familia afectada de disostosis cleidocraneal, descendientes de un inmigrante español que se asentó en el municipio de Urbano Noris y que ejerció un efecto fundador. Resultados: la deformidad con acortamiento de clavículas y la braquicefalia se presentó en el 100% de los afectados. En la segunda generación no se observó la deformidad producto a que este gen se expresó con penetrancia reducida. Conclusiones: se evidenció un patrón de herencia autosómico dominante, con afectación de 19 miembros, en cinco generaciones, de los cuales solo se estudiaron nueve de ellos; en esta familia se presentó la afección con penetrancia reducida. Se comprobó desproporción entre las dimensiones del cráneo, de la cara y la deformidad torácica por el acortamiento de ambas clavículas en el total de los afectados, que resultó el signo clínico más llamativo. La displasia de ambas clavículas y la braquicefalia fueron las alteraciones radiográficas más frecuentes.

Introduction: cleidocranial dysplasia or dysostosis is a rare skeletal dysplasia that affects long bones, especially clavicles and maxillofacial area, number abnormalities, rash, prognathism and widening of the zygomatic arch can be observed. CBFA1/RUNX2 gene mutation located on 6p21 considered the master gene in the formation of bones and teeth is associated to the condition, as well as other mutations in other genes. Objective: to describe the behavior of cleidocranial dysostosis in a family. Methods: a clinical, radiographic study and the pedigree of the only one affected family by cleidocranial dysostosis, descendants of a Spanish immigrant who settled in the town of Urbano Noris and exerted a founder effect were described. Results: deformity with shortening of clavicles and brachycephaly was presented in 100% of patients. In the second generation this deformity was not observed because this gene was expressed with reduced penetrance. Conclusions: an autosomal dominant inheritance pattern, affecting 19 members in five generations was showed and only nine of them were studied, in this family the condition with reduced penetrance was showed. Discrepancy was found between the dimensions of the skull, face and chest deformity by shortening both clavicles in the total of those affected, which was the most striking clinical sign. Dysplasia of both clavicles and brachycephaly were the most common radiographic abnormalities.

Failure to treat osteoporosis and the risk of subsequent fractures in elderly patients with previous hip fracture: a five-year retrospective study.

BACKGROUND AND AIMS: Considering the results of cost-effective analyses, the National Osteoporosis Foundation recommends osteoporosis treatment for patients with previous hip fracture. The aim of this study was to examine the application of adequate treatment for osteoporosis among patients who have had a hip fracture. We also evaluated the rate of subsequent fractures after five years. METHODS: We conducted a retrospective data study, with a follow-up at five years after discharge, in a tertiary teaching hospital with orthopedic services and all medical specialities. Treatment for osteoporosis and subsequent fracture rates were evaluated in 114 patients with hip fracture. Functional status was assessed using the Barthel Index (BI). We also evaluated the rate of subsequent fractures after five years. RESULTS: Twenty-five patients (22%) had a new fracture at some moment during the follow-up. Six percent at discharge and 12% at five years of follow-up were receiving adequate treatment for osteoporosis. After five years of follow-up, a decline in their BI persisted in 72% of the 43 surviving patients. CONCLUSIONS: Few patients were receiving adequate treatment for osteoporosis after hip fracture. Their fracture rates and functional decline were important.