Incontinentia pigmenti diagnostic criteria update

In 1993 diagnostic criteria for incontinentia pigmenti (IP), a genodermatosis in which skin changes are usually combined with anomalies of other organs, were established. Approximately a decade ago, IKBKG gene mutation was discovered as a cause for IP. This finding has not been included in IP diagnosis so far. In addition, literature data pointed out a few other clinical findings as possible IP diagnostic criteria. Literature facts concerning IP diagnosis were analyzed. Different organ anomalies, their frequency and severity, were analyzed in the context of applicability as IP diagnostic criteria. Taking into account analyzed data from the literature, the proposal of updated IP diagnostic criteria was presented. We propose as major criteria one of the stages of IP skin lesions. As updated IP minor criteria in our proposal we included: dental, ocular; central nervous system (CNS), hair, nail, palate, breast and nipple anomalies; multiple male miscarriages, and IP pathohistological findings. In the diagnosis of IP, the presence of IKBKG mutation typical for IP, and existence of family relatives with diagnosed IP are taken into account.     

Evaluation of prenatal diagnosis of congenital anomalies diagnosable by prenatal ultrasound in patients in neonatal intensive care units of Cali,Colombia

Introduction:

The study aim was to determine the frequency of prenatal ultrasound diagnosis of congenital anomalies in Newborns (NB) with birth defects hospitalized in two Neonatal Intensive Care Units (NICU) of Cali (Colombia) and to identify socio-demographic factors associated with lack of such diagnosis.

Patients and methods:

It was an observational cross-sectional study. NB with congenital defects diagnosable by prenatal ultrasound (CDDPU), who were hospitalized in two neonatal intensive care units (NICU), were included in this study. A format of data collection for mothers, about prenatal ultra-sonographies, socio-demographic data and information on prenatal and definitive diagnosis of their conditions was applied. Multiple logistic and Cox regressions analyses were done.

Results:

173 NB were included, 42.8% of cases had no prenatal diagnosis of CDDPU; among them, 59.5% had no prenatal ultrasound (PNUS). Lack of PNUS was associated with maternal age, 25 to 34 years (Odds Ratio [OR]: 4.41) and 35 to 47 years (OR: 5.24), with low levels of maternal education (OR: 8.70) and with only a PNUS compared to having two or more PNUS (OR: 4.00). Mothers without health insurance tend to be delayed twice the time to access the first PNUS in comparison to mothers with payment health insurance (Hazard Ratio [HR]: 0.51). Among mothers who had PNUS, screening sensitivity of CDDPU after the 19^th gestational week was 79.2%.

Conclusions:

The frequency of prenatal diagnosis is low and is explained by lack of PNUS, or by lack of diagnostic in the PNUS. An association between lack of PNUS and late age pregnancy and low level of maternal education was found. In addition, uninsured mothers tend to delay twice in accessing to the first PNUS in comparison to mothers with health insurance. It is necessary to establish national policies which ensure access to appropriate, timely and good quality prenatal care for all pregnant women in Colombia.     

Early versus late reconstruction of cloacal malformations: The effects on postoperative complications and long-term colorectal outcome

Introduction

Patients with a cloacal malformation generally undergo reconstructive surgery within the first years of life. However, the ideal age for surgery has rarely been mentioned. The aim of this study was to report differences in outcome between early (< 6 months) and late repair of cloacal malformations.

Methods

Charts of patients with a cloacal malformation treated in 5 pediatric surgical centers between 1985 and 2009 were retrospectively studied for associated anomalies, postoperative complications, and colorectal and urological outcome.

Results

Forty-two patients were eligible for this study, giving a mean exposure of less than 1 patient yearly per center. Forty-five percent of the patients had a short common channel (> 3 cm), and 14% had a long common channel. Length of common channel was missing in 41% of the patients. Median age of the cloacal reconstruction was 9 months (range 1–121 months). Twelve patients (29%) underwent an early surgical repair (within the first 6 months of age; median 3 months), and 30 (71%) patients underwent a late repair (after 6 months of age; median 14 months). Eighteen postoperative complications (< 30 days) had been documented in 15 patients (35%), with significant more perineal wound dehiscences in patients with an early repair (42% vs. 10%, p = 0.031). There were no differences in complication rate between patients with short and long common channels. Mean follow-up was 142 months (range 15–289). At the last follow-up, 10 patients (24%) had voluntary bowel movements. Fourteen patients (33%) had complaints of soiling, 25 (60%) were constipated, with no differences between the early and late repair groups. Patients in the late repair group as well as the group of patients with a short common channel were more frequently able to void spontaneously.

Conclusions

Postoperative complications are common in patients with cloacal malformations. Early repair is associated with more wound dehiscences, however, without affecting long-term functional outcome. All centers had limited annual exposure of less than 1 patient. In these clinical settings, ideal age of cloacal reconstruction seems to be between 6 and 12 months. In general, centralized care for these complex malformations may be the crucial factor for reducing postoperative complications and better long-term outcome.     

Chiari畸形合并脊髓空洞症两种术式治疗比较

目的 比较Chiari畸形合并脊髓空洞症在应用单纯枕骨大孔减压术及枕骨大孔减压术＋脊髓空洞-蛛网膜下隙分流术两种手术方式的临床治疗效果.方法 选取49例Chiari畸形合并脊髓空洞症患者,28例行单纯枕骨大孔减压术（术式一组）,21例行枕骨大孔减压术＋脊髓空洞-蛛网膜下隙分流术（术式二组）.根据术后临床疗效及复查MRI后判定两种手术方式治疗效果.结果 术式一组18例有效,10例无效,有效率64.3％（18/28）,术式二组19例有效,2例无效,有效率90.5％（19/21）,两组有效率比较差异有统计学意义（x2=4.45,P=0.034）.结论 枕骨大孔减压术＋脊髓空洞-蛛网膜下隙分流术是治疗Chiari畸形合并脊髓空洞症有效手段,手术疗效较单纯枕骨大孔减压术确切,适用于Chiari畸形合并脊髓空洞症患者,其治疗机制符合最新脊髓空洞症发病机制.     

Avoiding the fatal misdiagnosis of pregnancy in a noncommunicating rudimentary horn using 3D transvaginal ultrasound

Rudimentary horn pregnancies are an increasingly recognized complication of Mullerian duct anomalies. They can lead to uterine rupture with severe maternal morbidity and mortality. We present the case of a 28-year-old woman with a prior surgical diagnosis of bicornuate uterus who was diagnosed with a 7-week pregnancy in the left horn of a bicornuate uterus by 2D ultrasound. Further investigation with 3D ultrasound revealed that the pregnancy was within a noncommunicating rudimentary horn of a unicornuate uterus. These findings were confirmed at laparotomy. This case illustrates the importance and benefits of utilizing 3D ultrasound in diagnosing suspected Mullerian anomalies.     

Scimitar syndrome with bicuspid aortic valve. A case report of cross-sectional non- invasive imaging allowing a complete anatomical and functional assessment

Scimitar syndrome is a variant of partial anomalous pulmonary venous return with an aberrant vein, the Scimitar vein, draining the right lung to the inferior vena cava instead of the left atrium, resulting in a left-to-right shunt. The classic frontal radiographic finding, designated as “the scimitar sign”, is of a scimitar (a Turkish sword) shaped density along the right cardiac border. The diagnosis can be made by echocardiography, and cardiac catheterisation remains the gold standard to assess the left-to-right shunt. However, the place of multimodal cardiac imaging by computed tomography and magnetic resonance imaging is increasing. We report the case of a 26 year-old man presenting with chest pain during a brief panic attack, in whom scimitar syndrome was associated with a bicuspid aortic valve, a clinical association rarely reported in the literature. CT and MRI cardiac imaging was as accurate as echocardiography and hemodynamics, particularly for shunt quantification.     

Is preimplantation genetic diagnosis the ideal embryo selection method in aneuploidy screening?

To select cytogenetically normal embryos, preimplantation genetic diagnosis (PGD) aneuploidy screening (AS) is used in numerous centers around the world. Chromosomal abnormalities lead to developmental problems, implantation failure, and early abortion of embryos. The usefulness of PGD in identifying single-gene diseases, human leukocyte antigen typing, X-linked diseases, and specific genetic diseases is well-known. In this review, preimplantation embryo genetics, PGD research studies, and the European Society of Human Reproduction and Embryology PGD Consortium studies and reports are examined. In addition, criteria for embryo selection, technical aspects of PGD-AS, and potential noninvasive embryo selection methods are described. Indications for PGD and possible causes of discordant PGD results between the centers are discussed. The limitations of fluorescence in situ hybridization, and the advantages of the array comparative genomic hybridization are included in this review. Although PGD-AS for patients of advanced maternal age has been shown to improve in vitro fertilization outcomes in some studies, to our knowledge, there is not sufficient evidence to use advanced maternal age as the sole indication for PGD-AS. PGD-AS might be harmful and may not increase the success rates of in vitro fertilization. At the same time PGD, is not recommended for recurrent implantation failure and unexplained recurrent pregnancy loss.