Acute Anterior ST-Elevation Myocardial Infarction and Electrical Storm Secondary to Nondominant Right Coronary Artery Occlusion

A 42-year-old man emergently presented with chest pain and anterior ST elevation. Refractory ventricular arrhythmias and shock developed rapidly. A coronary angiogram revealed the acute occlusion of a nondominant right coronary artery. After percutaneous coronary intervention, the anterior ST elevation and ventricular arrhythmias resolved. The electrocardiographic pattern was a result of isolated right ventricular infarction that in turn caused profound electrical and hemodynamic instability. We discuss the cause and pathophysiology of this patient''s case, and we recommend that interventional and general cardiologists be aware that anterior ST elevation can be caused by the occlusion of a nondominant right coronary artery.     

Single Coronary Ostium in Right Coronary Sinus: Previously Unreported “One for All” Configuration

We report our identification of a single coronary ostium arising from the right coronary sinus of Valsalva, in a 63-year-old woman who presented with chest pain atypical of angina. Coronary angiograms showed that the left anterior descending coronary artery arose from a right ventricular branch and that the left circumflex coronary artery arose from a right posterolateral branch. Both arteries reconstituted themselves in a backward fashion from the apex to the base of the heart—a configuration that to our knowledge has not been reported. The patient was treated conservatively and reported no chest pain 24 months later.     

双源CT对心肌桥与冠状动脉粥样硬化关系的探讨

目的利用双源CT(DSCT)探讨左冠状动脉前降支心肌桥(myocardial bridging,MB)与该支冠状动脉粥样硬化的相关关系。方法采用DSCT对500例可疑冠心病(coronary artery disease,CHD)和体检者行冠状动脉CT血管成像(CTA),由3位CT诊断医师独立判断并在结果一致时确定前降支MB,测量MB长度、厚度。将所有病例分为前降支MB组和非MB组,利用多平面重组(MPR)、最大密度投影(MIP)、曲面重组(CPR)、容积再现(VR)等后处理技术联合观察前降支钙化及粥样硬化斑块的发生率,利用Circulation软件QCA工具测量前降支由于斑块所致的狭窄率,比较MB组与非MB组的平均狭窄程度以及钙化、粥样硬化斑块的发生率。应用Spearman等级相关统计分析MB近端冠状动脉狭窄程度与MB的长度及厚度之间的相关关系。结果 500例受检者中冠状动脉CTA发现前降支MB 135例(27%)。MB组钙化及粥样硬化斑块的发生率分别为38.5%和53.3%,非MB组钙化及粥样硬化斑块的发生率分别为32.3%和46.3%,MB组与非MB组的平均狭窄程度分别为(45.6±21.2)%和(45.7±22.2)%,两组之间钙化的发生率、粥样硬化斑块的发生率及平均狭窄程度差异均无明显统计学意义(P=0.25;P=0.16;P=0.99),MB近端冠状动脉狭窄程度与MB的长度及厚度间相关性均不明显(r=-0.03,P=0.83;r=-0.10,P=0.42)。结论左冠状动脉前降支MB的存在并没有显著增加该支冠状动脉狭窄程度及粥样硬化斑块的总体发生率,MB近端冠状动脉狭窄程度与MB的长度及厚度相关性不明显。     

Practical and social skills of 16–19-year-olds with Down syndrome: Independence still far away

Survival of children with Down syndrome (DS) has improved considerably, but insight into their level of daily functioning upon entering adulthood is lacking. We collected cross-sectional data from a Dutch nationwide cohort of 322 DS adolescents aged 16–19 (response 62.8%) to assess the degree to which they master various practical and social skills, using the Dutch Social competence rating scale and the Children's Social Behavior Questionnaire. Up to 60% mastered some of the skills required for independent functioning, such as maintaining adequate standards of personal hygiene and preparing breakfast. Less than 10% had achieved basic skills such as basic cooking and paying in a shop. It is difficult for DS people to master all the skills necessary to live independently. Ninety percent of adolescents with DS experience significant problems in social functioning.     

Monosomy 1p36 – A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities

Monosomy 1p36 is the most common subtelomeric deletion syndrome seen in humans. Uniform features of the syndrome include early developmental delay and consequent intellectual disability, muscular hypotonia, and characteristic dysmorphic facial features. The gene-rich nature of the chromosomal band, inconsistent deletion sizes and overlapping clinical features have complicated relevant genotype–phenotype correlations. We describe four patients with isolated chromosome 1p36 deletions. All patients shared white matter abnormalities, allowing us to narrow the critical region for white matter involvement to the deletion size of up to 2.5 Mb from the telomere. We hypothesise that there might be a gene(s) responsible for myelin development in the 1p36 subtelomeric region. Other significant clinical findings were progressive spastic paraparesis, epileptic encephalopathy, various skeletal anomalies, Prader-Willi-like phenotype, neoplastic changes – a haemangioma and a benign skin tumour, and in one case, sleep myoclonus, a clinical entity not previously described in association with 1p36 monosomy. Combined with prior studies, our results suggest that the clinical features seen in monosomy 1p36 have more complex causes than a classical contiguous gene deletion syndrome.     

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.