Lessons from ten years the prevalence of Congenital Rubella Syndrome (CRS) in young population living in a developing country, Tehran; Iran

Background: A safe and effective rubella vaccine is available and prescribed in IRAN. Objective: This is a survey of CRS cases collected based on WHO criteria one decade after MR vaccination campaign (2003) Methods: This Multi-stage prospective/cross-sectional study was carried out in three stages in 3 educational hospitals in Tehran (Rasoul Aram, Akbar Abadi and Firoozabadi), In the first stage of study between 2011 and 2012 total 186 infants were evaluated and in the second stage of study, total 163 blood samples of infants with suspected INTRA UTERINE INFECTION were compared with a group of healthy matched infants. In the first and second stages, Rubella immunity (IgG&IgM) in cord blood was evaluated by Eliza method. Results: Despite MR vaccination in Iran, after one decade"confirmed CRS" and " compatible CRS" were diagnosed in 5 and 31 from 89 CRS suspected cases. Conclusion: The incidence of "confirmed CRS" in every 100 CRS suspected infants (after campaign) is 5.6 %;and 31 CRS Compatible cases are so important. Without active CRS surveillance, mild infection such as IUGR, hearing loss,heart abnormalities, impaired vision, and mental retardation even in the developed country might be missed. Fetal infection is persistent, which imposes additional costs on the country.Another mass vaccination in women and girls is needed. Also, the anti-rubella IgG testing before pregnancy in women who were not vaccinated; vaccination of women before marriage /pregnancy should be obligatory in order to prevent the CRS.

Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance

Catecholaminergic Polymorphic Ventricular Tachycardia is a life-threatening disorder. The clinical diagnosis is challenging owing to the absence of electrocardiogram and overt structural heart abnormalities in the majority of patients. Approximately 35% of cases remain without a genetic etiology. Here, we identified two genes as a novel promising candidate for CPVT.

1355 Clinical Profile of Congenital Heart Diseases in Children in Khartoum, Sudan

Aim Congenital heart diseases (CHDs) are heart abnormalities that present at birth and are one of the most common birth defects in children. Few studies assessed the clinical profile of CHDs in Sudan, and they are almost outdated. The aim of this study was to provide a recent overview of the clinical profile of CHDs in Khartoum, Sudan. Method a descriptive cross-sectional hospital-based study was done in 2016 in 3 main pediatric tertiary care hospitals in Khartoum. Firstly, the authors included all patients presented with suspicion of cardiac diseases. From which only those diagnosed with CHDs were included. The total sample size was 112 patients, from which CHDs comprised 60 patients. Results among the 112 patients, 53.6% had CHDs, 25% had acquired diseases, and 21.4% were normal. Of those with CHD, 60% were having acyanotic CHD, and 21.7% were having cyanotic CHD, the remaining patients had other cardiac defects. VSD was the most predominant individual CHD (33%), followed by ASD (19%), PDA (16.8%) and TOF (16.8%). VSD was the most common acyanotic lesion, while TOF was the most common cyanotic lesion followed by TGA and pulmonary atresia (PA). Conclusions We have an updated overview of the clinical profile of CHDs in Khartoum, Sudan. CHDs were the most common form within all pediatric patients with cardiac disease. From these CHDs, acyanotic lesions were the most common ones. VSD was the most common acyanotic lesion followed by PDA. TOF was the most common cyanotic lesion. These findings are consistent with studies done regionally and internationally.

Diseases associated with mutations in the filamin A gene (FLNA)

The article presents literature review of the diseases associated with mutations in the FLNA gene encoding filamin A, which is a cytoskeleton protein with polymorphic functions. The mutations of this gene lead to the damage of the central nervous system (periventricular nodular heterotopy), respiratory organs (emphysema, interstitial lung disease), heart (congenital heart defects and minor heart abnormalities); the listed diseases can be diagnosed at different ages. The information presented in this review can be useful for clinical geneticists, specialists in rare (orphan) diseases, pediatricians, neonatologists, neurologists, epileptologists, pulmonologists, surgeons, cardiologists for timely diagnosis and improvement of medical care for patients requiring a multidisciplinary approach.

Newborn screening: Need of the hour

Newborn screening (NBS) is the process by which newborns are screened just after birth for disorders that can cause severe illness or death unless detected and treated early. At present, there is no national NBS program in India. Although the exact incidence in India is not known, approximately 4:1000 and 5:1000 are estimated to have hearing defects and congenital heart abnormalities, respectively, whereas the incidence of IEMs is estimated to be approximately 1:1000. This high incidence is due to high prevalence of consanguinity in our country. If undiagnosed and untreated many children develop mental retardation, learning disabilities, autism, dyslexia, behavioral abnormalities, and scholastic backwardness later in life. There is also considerable burden-financial and emotional on the parents to diagnose, treat, and manage these children. The most rational and cost-effective way of preventing such tragedies would be to have a NBS program which will detect most of the preventable or treatable, if not all IEMs and other genetic disorders. Hence, all hospitals in urban areas in India should initiate NBS at least for the common disorders: CH, CAH, and G6PD deficiency.

Use of Wavelets in Electrocardiogram Research: a Literature Review

Currently the introduction and detection of heart abnormalities using electrocardiogram (ECG) is very much. ECG conducted many research approaches in various methods, one of which is wavelet. This article aims to explain the trends of ECG research using wavelet approach in the last ten years. We reviewed journals with the keyword title "ecg wavelet" and published from 2011 to 2020. Articles classified by the most frequently discussed topics include: datasets, case studies, pre-processing, feature extraction and classification/identification methods. The increase in the number of ECG-related articles in recent years is still growing in new ways and methods. This study is very interesting because only a few researchers focus on researching about it. Several approaches from many researchers are used to obtain the best results, both by using machine learning and deep learning. This article will provide further explanation of the most widely used algorithms against ECG research with wavelet approaches. At the end of this article it is also shown that the critical aspect of ECG research can be done in the future is the use of datasets, as well as the extraction of characteristics and classifications by looking at the level of accuracy.

Detection of Heart Abnormalities Based On ECG Signal Characteristics using Multilayer Perceptron with Firefly Algorithm-Simulated Annealing

Heart disease is one of the causes of death worldwide. Therefore, detecting heart disease is very important to reduce the increased mortality rate. One of the methods used to detect the abnormalities or disorders of the heart is to use computer assistance to determine the characteristics of an electrocardiogram. Electrocardiogram (ECG) is a test that detects and records the activity of the heart through small metal electrodes attached to the skin of one's chest, arms and legs. This test shows how fast the heart beats and whether the rhythm is stable or not. The purpose of this thesis is to apply a multi-layer perceptron model with firefly algorithm and simulated annealing in detecting cardiac abnormalities based on the ECG signal characteristics. The initial step of this research is image processing. The stages of ECG image processing are grayscale, thresholding, edge detection, segmentation and normalization processes. The results of this image processing are used as input matrices in the perceptron multilayer network training using firefly algorithm and simulated annealing. In the training process, we will get optimal weights and biases for validation tests on test data. The training data in this thesis uses 20 ECG images and in the validation test process uses 10 ECG images. The validation results in the validation test show that the accuracy in detecting heart abnormalities based on the characteristics of ECG signals using multi- layer perceptron with firefly algorithm and simulated annealing is 100%.