Congenital Corneal Opacities: A Review with a Focus on Genetics

Congenital corneal opacities present in approximately 3/100,000 newborns. Many different disorders may result in corneal opacifications of infancy, including Peters' anomaly (PA), congenital hereditary endothelial dystrophy (CHED), congenital hereditary stromal dystrophy (CHSD) and posterior polymorphous dystrophy (PPMD). Current studies have localized defects using genetic testing in PA, CHED, CHSD and PPMD. Identifying mutations for specific disorders may lead to better understanding of the underlying pathogeneses and may help with diagnosis and prognosis. This article will review the clinical presentations, treatments and genetics of Peters' anomaly, congenital hereditary endothelial dystrophy, congenital hereditary stromal dystrophy and posterior polymorphous dystrophy.     

Evaluation of the sensitivity of Moroccans to shrimp tropomyosin and effect of heating and enzymatic treatments

The aim of this work was to evaluate the IgE-sensitivity to shrimp tropomyosin (ST) in a Moroccan population from Fez region, and then to study the effect of temperature and enzymatic digestion on the allergenicity of ST. This work was conducted with a questionnaire completed by a sera-bank, obtained from 500 patients recruited from Fez Hospitals. Their sera were analyzed for specific IgE-sensitivity to ST. From questionnaire, 9.8% reported allergy to fish and shellfish where shrimp was one of the most common species causing allergy in patients. Evaluation of specific IgE showed that 10.2% of patients present higher values. Further indirect ELISA and Dot-blot results indicated that ST showed a decrease in the human IgE binding under heating or pepsin hydrolysis. These results demonstrate that this population was sensitive to ST and the sensitivity could be reduced by heating and more where it was digested by pepsin.     

Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray

We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13.2 detected by chromosomal microarray. Fetal sonography detected radial-ray anomalies in the form of bilateral absence of thumbs and the left club hand deformity. The presence of single atrioventricular canal instead of the atrial septal defect typical for Holt-Oram syndrome pointed us to rather suspect the SALL4 related diseases. Central nervous system anomaly in the form of enlarged lateral brain ventricles with choroid plexus shifted backwards was not previously reported as a part of SALL4 related disorders. The pregnancy was terminated at 14 + 3 weeks of pregnancy and the autopsy confirmed ultrasonographic findings. Deleted region included 38 genes, where only SALL4, ADNP and KCNB1 heterozygote pathogenic variants were described to be cause of syndromic forms. Radial ray anomalies are common part of clinical picture of SALL4 related disorders. Despite the lack of prenatally described cases, we hypothesized that maldevelopment of lateral brain ventriculomegaly could be very early sonographic sign of disturbed ADNP expression causing Helsmoortel-Van der Aa syndrome, but in some extent also of KCNB1 related early-onset epileptic encephalopathy. Furthermore, the possible dosage-dependent influence of recessive genes located in this region cannot be also excluded. The use of genome-wide technologies enables the detection of subtle chromosomal imbalances and more precise familial genetic counseling regarding actual and future pregnancies.     

Patterns of parental emotional reactions after a pre- or postnatal diagnosis of a congenital anomaly

Objective: This study aimed to describe parental reactions at disclosure of a diagnosis of congenital anomaly and to investigate both the existence of distinct patterns of intensity of reactions and their association with post-diagnosis psychosymptomatology. Background: When receiving the news of a pre- or postnatal diagnosis of congenital anomaly, parents usually display acute grief reactions. However, questions arise regarding the variability and intensity of those reactions and their clinical significance. Method: Fifty-one women and 42 men whose infants were diagnosed with a congenital anomaly completed, one month after the disclosure, the Brief Symptom Inventory-18 and retrospectively evaluated their emotional experience at disclosure. Results: Negative emotions, and also hope, were experienced with greater intensity at disclosure. There was variability of emotional reactions, as two distinct patterns were identified: one pattern fits the acute grief reactions pattern, and another of less-intense emotional reactions. No gender differences were found on emotional reactions. Higher-intensity reactions at disclosure were associated with more psychosymptomatology one-month later only for fathers. Conclusion: Findings suggest the need for healthcare professionals to adjust their practice to meet parental needs in the early post-diagnosis stage. Both parents should be given the opportunity to express their emotions as a couple and individually.     

Implicaciones anestésicas en gestante con trombocitopenia extrema por síndrome de May-Hegglin: ¿anestesia regional o general?

The May-Hegglin anomaly is an inherited disorder, so uncommon that the incidence is still unknown. It is characterized by macro-thrombocytopenia with normal platelet function and cytoplasmic inclusion bodies in granulocytes.The case is reported of a 28-year-old primiparous patient who had an urgent caesarean section due to failed induction of labour. The patient had no history of abnormal bleeding. Other causes of thrombocytopenia or platelet dysfunction, such as preeclampsia, HELLP syndrome, or placental abruption, were ruled out. The platelet count prior to surgery was 20,900/mm³ with normal platelet function. General anaesthesia was performed. No excessive bleeding occurred and a platelet transfusion was not needed.     

Arcada coronária – uma anomalia rara da circulação coronária

Intercoronary communication or ‘coronary arcade’ is a rare congenital coronary anomaly. We present the case of a 65‐year‐old man with atypical chest pain for four months. The 12‐lead ECG and echocardiogram were normal. Treadmill exercise testing was interrupted at peak exercise due to consecutive salvos of ventricular premature beats, without significant ST‐T changes. Coronary angiography showed no significant coronary stenosis, but a connection between the right coronary and circumflex arteries was observed, consistent with coronary arcade. The functional importance of this variant is not clear, but it may cause myocardial ischemia by coronary steal or function as a natural bypass, in which case it may play a protective role in the myocardium if significant atherosclerosis develops.     

Thermo-Mechanical Behavior of Textile Heating Fabric Based on Silver Coated Polymeric Yarn

This paper presents a study conducted on the thermo-mechanical properties of knitted structures, the methods of manufacture, effect of contact pressure at the structural binding points, on the degree of heating. The test results also present the level of heating produced as a function of the separation between the supply terminals. The study further investigates the rate of heating and cooling of the knitted structures. The work also presents the decay of heating properties of the yarn due to overheating. Thermal images were taken to study the heat distribution over the surface of the knitted fabric. A tensile tester having constant rate of extension was used to stretch the fabric. The behavior of temperature profile of stretched fabric was observed. A comparison of heat generation by plain, rib and interlock structures was studied. It was observed from the series of experiments that there is a minimum threshold force of contact at binding points of a knitted structure is required to pass the electricity. Once this force is achieved, stretching the fabric does not affect the amount of heat produced.     

Ebstein anomaly review: what’s now,what’s next?

Ebstein anomaly accounts for 1% of all congenital heart disease. It is a right ventricular myopathy with failure of tricuspid valve delamination and highly variable tricuspid valve morphology that usually results in severe regurgitation. It is the only congenital heart lesion that has a range of clinical presentations, from the severely symptomatic neonate to an asymptomatic adult. Neonatal operation has high operative mortality, whereas operation performed beyond infancy and into adulthood has low operative mortality. Late survival and quality of life for hospital survivors are excellent for the majority of patients in all age brackets. Atrial tachyarrhythmias are the most common late complication. There have been more techniques of tricuspid repair reported in the literature than any other congenital or acquired cardiac lesion. This is largely due to the infinite anatomic variability encountered with this anomaly. The cone reconstruction of Ebstein anomaly can achieve near anatomic restoration of the tricuspid valve anatomy. Early and intermediate results with these repairs are promising. Reduced right ventricular function continues to be a challenge for some patients, as is the need for reoperation for recurrent tricuspid regurgitation. The purpose of this article is to outline the current standard of care for diagnosis and treatment of Ebstein anomaly and describe innovative strategies to address poor right ventricular function and associated right-sided heart failure.