Search results for: fetal phonocardiography
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 16

Search results for: fetal phonocardiography

16 Screening of Congenital Heart Diseases with Fetal Phonocardiography

Authors: F. Kovács, K. Kádár, G. Hosszú, Á. T. Balogh, T. Zsedrovits, N. Kersner, A. Nagy, Gy. Jeney

Abstract:

The paper presents a novel screening method to indicate congenital heart diseases (CHD), which otherwise could remain undetected because of their low level. Therefore, not belonging to the high-risk population, the pregnancies are not subject to the regular fetal monitoring with ultrasound echocardiography. Based on the fact that CHD is a morphological defect of the heart causing turbulent blood flow, the turbulence appears as a murmur, which can be detected by fetal phonocardiography (fPCG). The proposed method applies measurements on the maternal abdomen and from the recorded sound signal a sophisticated processing determines the fetal heart murmur. The paper describes the problems and the additional advantages of the fPCG method including the possibility of measurements at home and its combination with the prescribed regular cardiotocographic (CTG) monitoring. The proposed screening process implemented on a telemedicine system provides an enhanced safety against hidden cardiac diseases.

Keywords: Cardiac murmurs, fetal phonocardiography, screening of CHDs, telemedicine system.

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 2203
15 Wavelet Feature Selection Approach for Heart Murmur Classification

Authors: G. Venkata Hari Prasad, P. Rajesh Kumar

Abstract:

Phonocardiography is important in appraisal of congenital heart disease and pulmonary hypertension as it reflects the duration of right ventricular systoles. The systolic murmur in patients with intra-cardiac shunt decreases as pulmonary hypertension develops and may eventually disappear completely as the pulmonary pressure reaches systemic level. Phonocardiography and auscultation are non-invasive, low-cost, and accurate methods to assess heart disease. In this work an objective signal processing tool to extract information from phonocardiography signal using Wavelet is proposed to classify the murmur as normal or abnormal. Since the feature vector is large, a Binary Particle Swarm Optimization (PSO) with mutation for feature selection is proposed. The extracted features improve the classification accuracy and were tested across various classifiers including Naïve Bayes, kNN, C4.5, and SVM.

Keywords: Phonocardiography, Coiflet, Feature selection, Particle Swarm Optimization.

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 2415
14 The Results of the Fetal Weight Estimation of the Infants Delivered in the Delivery Room At Dan Khunthot Hospital by Johnson-s Method

Authors: Nareelux Suwannobol, JintanaTapin, Khuanchanok Narachan

Abstract:

The objective of this study was to determine the accuracy to estimation fetal weight by Johnson-s method and compares it with actual birth weight. The sample group was 126 infants delivered in Dan KhunThot hospital from January March 2012. Fetal weight was estimated by measuring fundal height according to Johnson-s method. The information was collected by studying historical delivery records and then analyzed by using the statistics of frequency, percentage, mean, and standard deviation. Finally, the difference was analyzed by a paired t-test.The results showed had an average birth weight was 3093.57 ± 391.03 g (mean ± SD) and 3,455 ± 454.55 g average estimated fetal weight by Johnson-s method higher than average actual birth weight was 384.09 grams. When classifying the infants according to birth weight found that low birth weight (<2500 g) and the appropriate birth weight (2500-3999g) actual birth weight less than estimate fetal weight . But the high birth weight (> 4000 g) actual birth weight was more than estimated fetal weight. The difference was found between actual birth weight and estimation fetal weight of the minimum weight in high birth weight ( > 4000 g) , the appropriate birth weight (2500-3999g) and low birth weight (<2500 g) respectively. The rate of estimates fetal weight within 10% of actual birth weight was 35.7%. Actual birth weight were compared with the found that the difference is statistically significant (p <.000). Employing Johnson-s method to estimate fetal weight can estimate initial fetal weight before passing to special examinations, which may require excessive high cost. A variety of methods should be employed to estimate fetal weight more precisely, which will help plan care for mother-s and infant-s safety.

Keywords: Johnson's method, Fetal weight estimate, Delivery Room, Student nurse.

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 2296
13 Extraction of Fetal Heart Rate and Fetal Heart Rate Variability from Mother's ECG Signal

Authors: Khaldon Lweesy, Luay Fraiwan, Christoph Maier, Hartmut Dickhaus

Abstract:

This paper describes a new method for extracting the fetal heart rate (fHR) and the fetal heart rate variability (fHRV) signal non-invasively using abdominal maternal electrocardiogram (mECG) recordings. The extraction is based on the fundamental frequency (Fourier-s) theorem. The fundamental frequency of the mother-s electrocardiogram signal (fo-m) is calculated directly from the abdominal signal. The heart rate of the fetus is usually higher than that of the mother; as a result, the fundamental frequency of the fetal-s electrocardiogram signal (fo-f) is higher than that of the mother-s (fo-f > fo-m). Notch filters to suppress mother-s higher harmonics were designed; then a bandpass filter to target fo-f and reject fo-m is implemented. Although the bandpass filter will pass some other frequencies (harmonics), we have shown in this study that those harmonics are actually carried on fo-f, and thus have no impact on the evaluation of the beat-to-beat changes (RR intervals). The oscillations of the time-domain extracted signal represent the RR intervals. We have also shown in this study that zero-to-zero evaluation of the periods is more accurate than the peak-to-peak evaluation. This method is evaluated both on simulated signals and on different abdominal recordings obtained at different gestational ages.

Keywords: Aabdominal ECG, fetal heart rate variability, frequency harmonics, fundamental frequency.

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 2621
12 Fetal and Infant Mortality in Botucatu City, São Paulo State, Brazil: Evaluation of Maternal - Infant Health Care

Authors: Noda L. M., Salvador I. C, C. M. L. G. Parada, Fonseca C. R. B.

Abstract:

In Brazil, neonatal mortality rate is considered incompatible with the country development conditions, and has been a Public Health concern. Reduction in infant mortality rates has also been part of the Millennium Development Goals, a commitment made by countries, members of the Organization of United Nations (OUN), including Brazil. Fetal mortality rate is considered a highly sensitive indicator of health care quality. Suitable actions, such as good quality and access to health services may contribute positively towards reduction in these fetal and neonatal rates. With appropriate antenatal follow-up and health care during gestation and delivery, some death causes could be reduced or even prevented by means of early diagnosis and intervention, as well as changes in risk factors and interventions. Objectives: To study the quality of maternal and infant health care based on fetal and neonatal mortality, as well as the possible actions to prevent those deaths in Botucatu (Brazil). Methods: Classification of prevention according to the International Classification of Diseases and the modified Wigglesworth´s classification. In order to evaluate adequacy, indicators of quality of antenatal and delivery care were established by the authors. Results: Considering fetal deaths, 56.7% of them occurred before delivery, which reveals possible shortcomings in antenatal care, and 38.2% of them were a result of intra- labor changes, which could be prevented or reduced by adequate obstetric management. These findings were different from those in the group of early neonatal deaths which were also studied. Adequacy of health services showed that antenatal and childbirth care was appropriate for 24% and 33.3% of pregnant women, respectively, which corroborates the results of prevention. These results revealed that shortcomings in obstetric and antenatal care could be the causes of deaths in the study. Early and late neonatal deaths have similar characteristics: 76% could be prevented or reduced mainly by adequate newborn care (52.9%) and adequate health care for gestational women (11.7%). When adequacy of care was evaluated, childbirth and newborn care was adequate in 25.8% and antenatal care was adequate in 16.1%. In conclusion, direct relationship was found between adequacy and quality of care rendered to pregnant women and newborns, and fetal and infant mortality. Moreover, our findings highlight that deaths could be prevented by an adequate obstetric and neonatal management.

Keywords: Fetal Mortality, Infant Mortality, Maternal-Child Health Services, Program Evaluation.

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 5027
11 Compressed Sensing of Fetal Electrocardiogram Signals Based on Joint Block Multi-Orthogonal Least Squares Algorithm

Authors: Xiang Jianhong, Wang Cong, Wang Linyu

Abstract:

With the rise of medical IoT technologies, Wireless body area networks (WBANs) can collect fetal electrocardiogram (FECG) signals to support telemedicine analysis. The compressed sensing (CS)-based WBANs system can avoid the sampling of a large amount of redundant information and reduce the complexity and computing time of data processing, but the existing algorithms have poor signal compression and reconstruction performance. In this paper, a Joint block multi-orthogonal least squares (JBMOLS) algorithm is proposed. We apply the FECG signal to the Joint block sparse model (JBSM), and a comparative study of sparse transformation and measurement matrices is carried out. A FECG signal compression transmission mode based on Rbio5.5 wavelet, Bernoulli measurement matrix, and JBMOLS algorithm is proposed to improve the compression and reconstruction performance of FECG signal by CS-based WBANs. Experimental results show that the compression ratio (CR) required for accurate reconstruction of this transmission mode is increased by nearly 10%, and the runtime is saved by about 30%.

Keywords: telemedicine, fetal electrocardiogram, compressed sensing, joint sparse reconstruction, block sparse signal

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 395
10 Assessment of Maternal and Embryo-Fetal Toxicity of Copper Oxide Fungicide

Authors: André M. Ornelas, Lise P. Labéjof, Ligia V. Lage dos Santos, Jackson A. Santos

Abstract:

The excessive use of agricultural pesticides and the resulting contamination of food and beds of rivers have been a recurring problem nowadays. Some of these substances can cause changes in endocrine balance and impair reproductive function of human and animal population. In the present study, we evaluated the possible effects of the fungicide cuprous copper oxide Sandoz® on pregnant Wistar rats. They received a daily oral administration of 103 or 3.103 mg/kg of the fungicide from the 6th to the 15th day of gestation. On day 21 of gestation, the maternal and fetal toxicity parameters and indices were determined. The administration of cuprous oxide (Copper Sandoz) in Wistar rats, the period of organogenesis, revealed no evidence of maternal toxicity or embryo at the studied doses.

Keywords: Reproductive toxicity, endocrine disrupter, cupper Sandoz®, rodent

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 1786
9 Mucosal- Submucosal Changes in Rabbit Duodenum during Development

Authors: Elnasharty M. A., Abou-Ghanema I. I., Sayed-Ahmed A., A. Abo Elnour

Abstract:

The sequential morphologic changes of rabbit duodenal mucosa-submucosa were studied from primodial stage to birth in 15 fetuses and during the early days of life in 21 rabbit newborns till maturity using light, scanning and transmission electron microscopy. Fetal rabbit duodenum develops from a simple tube of stratified epithelium to a tube containing villus and intervillus regions of simple columnar epithelium. By day 21 of gestation, the first rudimentary villi were appeared and by day 24 the first true villi were appeared. The Crypts of Lieberkuhn did not appear until birth. By the first day of postnatal life the duodenal glands appeared. The histological maturity of the rabbit small intestine occurred one month after birth. In conclusion, at all stages, the sequential morphologic changes of the rabbit small intestine developed to meet the structural and physiological demands during the fetal stage to be prepared to extra uterine life.

Keywords: Duodenum, mucosa, submucosa, morphogenesis, rabbit.

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 2363
8 Effect of Retinoic Acid on Fetus Reproductive Organ Mice (Mus musculus) Swiss Webster

Authors: Yulia Irnidayanti

Abstract:

Retinoic acid is like a steroid hormone that plays a role in embryo formation, proliferation of spermatogonia cells, ephitelial cells differentiation and organogenesis. Retinoic acid can influences seminiferous tubule formation during embryonic testis development and also play a role in the regulation of ovarian function and female reproductive tract by suppressing the hormones FSH receptor expression. The excessive use of retinoic acid caused abnormalities in the fetus. The result showed that there is the influence of retinoic acid on the developmet of mice fetal testes, for examples disruption of the formation of seminiferous tubules and tubules seemed to be hollow, spermatogonia cells are relatively few in number and caused Leydig cells count relatively more. While in the female fetus does not caused the formation of primordial follicles and disrupted the development of germinal ephitelial cells of fetal ovaries of female mice (mus musculus) Swiss Webster.

Keywords: Retinoic acid, Leydig cell, Spermatogonia cells, Semin- ferous tubules, Primordial follicles

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 1531
7 Sickle Cell Disease: Review of Managements in Pregnancy and the Outcome in Ampang Hospital, Selangor

Authors: Z. Nurzaireena, K. Azalea, T. Azirawaty, S. Jameela, G. Muralitharan

Abstract:

The aim of this study is the review of the management practices of sickle cell disease patients during pregnancy, as well as the maternal and neonatal outcome at Ampang Hospital, Selangor. The study consisted of a review of pregnant patients with sickle cell disease under follow up at the Hematology Clinic, Ampang Hospital over the last seven years to assess their management and maternal-fetal outcome. The results of the review show that Ampang Hospital is considered the public hematology centre for sickle cell disease and had successfully managed three pregnancies throughout the last seven years. Patients’ presentations, managements and maternal-fetal outcome were compared and reviewed for academic improvements. All three patients were seen very early in their pregnancy and had been given a regime of folic acid, antibiotics and thrombo-prophylactic drugs. Close monitoring of maternal and fetal well being was done by the hematologists and obstetricians. Among the patients, there were multiple admissions during the pregnancy for either a painful sickle cell bone crisis, haemolysis following an infection and anemia requiring phenotype- matched blood and exchange transfusions. Broad spectrum antibiotics coverage during and infection, hydration, pain management and venous-thrombolism prophylaxis were mandatory. The pregnancies managed to reach near term in the third trimester but all required emergency caesarean section for obstetric indications. All pregnancies resulted in live births with good fetal outcome. During post partum all were nursed closely in the high dependency units for further complications and were discharged well. Post partum follow up and contraception counseling was comprehensively given for future pregnancies. Sickle cell disease is uncommonly seen in the East, especially in the South East Asian region, yet more cases are seen in the current decade due to improved medical expertise and advance medical laboratory technologies. Pregnancy itself is a risk factor for sickle cell patients as increased thrombosis event and risk of infections can lead to multiple crisis, haemolysis, anemia and vaso-occlusive complications including eclampsia, cerebrovasular accidents and acute bone pain. Patients mostly require multiple blood product transfusions thus phenotype-matched blood is required to reduce the risk of alloimmunozation. Emphasizing the risks and complications in preconception counseling and establishing an ultimate pregnancy plan would probably reduce the risk of morbidity and mortality to the mother and unborn child. Early management for risk of infection, thromboembolic events and adequate hydration is mandatory. A holistic approach involving multidisciplinary team care between the hematologist, obstetricians, anesthetist, neonatologist and close nursing care for both mother and baby would ensure the best outcome. In conclusion, sickle cell disease by itself is a high risk medical condition and pregnancy would further amplify the risk. Thus, close monitoring with combine multidisciplinary care, counseling and educating the patients are crucial in achieving the safe outcome.

Keywords: Anemia, haemoglobinopathies, pregnancy, sickle cell disease.

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 1235
6 Outcomes of Pregnancy in Women with TPO Positive Status after Appropriate Dose Adjustments of Thyroxin: A Prospective Cohort Study

Authors: Revathi S. Rajan, Pratibha Malik, Nupur Garg, Smitha Avula, Kamini A. Rao

Abstract:

This study aimed to analyse the pregnancy outcomes in patients with TPO positivity after appropriate L-Thyroxin supplementation with close surveillance. All pregnant women attending the antenatal clinic at Milann-The Fertility Center, Bangalore, India- from Aug 2013 to Oct 2014 whose booking TSH was more than 2.5 mIU/L were included along with those pregnant women with prior hypothyroidism who were TPO positive. Those with TPO positive status were vigorously managed with appropriate thyroxin supplementation and the doses were readjusted every 3 to 4 weeks until delivery. Women with recurrent pregnancy loss were also tested for TPO positivity and if tested positive, were monitored serially with TSH and fT4 levels every 3 to 4 weeks and appropriately supplemented with thyroxin when the levels fluctuated. The testing was done after an informed consent in all these women. The statistical software namely SAS 9.2, SPSS 15.0, Stata 10.1, MedCalc 9.0.1, Systat 12.0 and R environment ver.2.11.1 were used for the analysis of the data. 460 pregnant women were screened for thyroid dysfunction at booking of which 52% were hypothyroid. Majority of them (31.08%) were subclinically hypothyroid and the remaining were overt. 25% of the total no. of patients screened were TPO positive. The various pregnancy complications that were observed in the TPO positive women were gestational glucose intolerance [60%], threatened abortion [21%], midtrimester abortion [4.3%], premature rupture of membranes [4.3%], cervical funneling [4.3%] and fetal growth restriction [3.5%]. 95.6% of the patients who followed up till the end delivered beyond 30 weeks. 42.6% of these patients had previous history of recurrent abortions or adverse obstetric outcome and 21.7% of the delivered babies required NICU admission. Obstetric outcomes in our study in terms of midtrimester abortions, placental abruption, and preterm delivery improved for the better after close monitoring of the thyroid hormone [TSH and fT4] levels every 3 to 4 weeks with appropriate dose adjustment throughout pregnancy. Euthyroid women with TPO positive status enrolled in the study incidentally were those with recurrent abortions/infertility and required thyroxin supplements due to elevated Thyroid hormone (TSH, fT4) levels during the course of their pregnancy. Significant associations were found with age>30 years and Hyperhomocysteinemia [p=0.017], recurrent pregnancy loss or previous adverse obstetric outcomes [p=0.067] and APLA [p=0.029]. TPO antibody levels >600 I U/ml were significantly associated with development of gestational hypertension [p=0.041] and fetal growth restriction [p=0.082]. Euthyroid women with TPO positivity were also screened periodically to counter fluctuations of the thyroid hormone levels with appropriate thyroxin supplementation. Thus, early identification along with aggressive management of thyroid dysfunction and stratification of these patients based on their TPO status with appropriate thyroxin supplementation beginning in the first trimester will aid risk modulation and also help avert complications.

Keywords: Antinuclear antibody, Subclinical hypothyroidism, Thyroxin, TPO antibody.

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 1660
5 Gamma Glutamyl Transferase and Lactate Dehydrogenase as Biochemical Markers of Severity of Preeclampsia

Authors: S. M. Munde, N. R. Hazari, A. P. Thorat, S. B. Gaikwad, V. S. Hatolkar

Abstract:

This study was conducted to examine the possible role of serum Gamma-glutamyltransferase (GGT) and Lactate dehydrogenase (LDH) in the prediction of severity of preeclampsia. The study group comprised of 40 preeclamptic cases (22 with mild and 18 with severe) and 40 healthy normotensive pregnant controls. Serum samples of all the cases were assayed for GGT and LDH. Demographic, hemodynamic and laboratory data as well as serum GGT and LDH levels were compared among the three groups.

The results indicated that severe preeclamptic cases had significantly increased levels of serum GGT and LDH. The symptoms in severe preeclamptic women were significantly increased in patients with GGT > 70 IU/L and LDH >800 IU/L. Elevated levels of serum GGT and LDH can be used as biochemical markers which reflects the severity of preeclampsia and useful for the management of preeclampsia to decrease maternal and fetal morbidity and mortality.

Keywords: Severe Preeclampsia, GGT, LDH.

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 3019
4 Perinatal Outcome in Cases with Bleeding during First and Early Second Trimester

Authors: S. Chhabra, C. Tickoo, P. Kalra

Abstract:

Background: Bleeding during first half of pregnancy mostly originates from placenta, some abort, others are at risk of complications. Objective: Study was done to know perinatal outcome with bleeding up to 20 weeks in singleton pregnancy. Material Methods: Subjects were 1020, equal controls managed over 2 years, 435 had viable pregnancy at admission, 135 excluded, 300 followed for perinatal outcome, 99 (19.52% up to 10 weeks), 201 (39.18% of 11-20 weeks). Results: Hypertensive disorders occurred in 24% cases of bleeding within 10 weeks, 22% 11-20 weeks 14.79% controls, placenta previa 4% in 10 weeks, 0.9% 11-20 weeks, 0.97% controls, prelabor rupture of membranes in 16%, 7.45% controls. 20% up to 10 weeks, 35% 11-20 weeks, 18% controls had fetal growth restriction, 34.34% up to 10 weeks 30.35% of 11-20 weeks 17.17% controls had preterm births, perinatal mortality rate in study was 118.62, in controls 68.16 (Uneventful pregnancy in 13.52% study, 46.11% controls). Conclusion: Once bleeding occurs, one third continue pregnancy, maternal neonatal outcome gets affected with variations in cases of bleeding within first 10 weeks & 11-20 weeks.

Keywords: First, Second trimester, bleeding, Disorders, Perinatal Outcome.

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 1673
3 Thermosensitive Hydrogel Development for Its Possible Application in Cardiac Cell Therapy

Authors: Lina Paola Orozco-Marín, Yuliet Montoya, John Bustamante

Abstract:

Ischemic events can culminate in acute myocardial infarction with irreversible cardiac lesions that cannot be restored due to the limited regenerative capacity of the heart. Tissue engineering proposes therapeutic alternatives by using biomaterials to resemble the native extracellular medium combined with healthy and functional cells. This research focused on developing a natural thermosensitive hydrogel, its physical-chemical characterization and in vitro biocompatibility determination. Hydrogels’ morphological characterization was carried out through scanning electron microscopy and its chemical characterization by employing Infrared Spectroscopy technic. In addition, the biocompatibility was determined using fetal human ventricular cardiomyocytes cell line RL-14 and the MTT cytotoxicity test according to the ISO 10993-5 standard. Four biocompatible and thermosensitive hydrogels were obtained with a three-dimensional internal structure and two gelation times. The results show the potential of the hydrogel to increase the cell survival rate to the cardiac cell therapies under investigation and lay the foundations to continue with its characterization and biological evaluation both in vitro and in vivo models.

Keywords: cardiac cell therapy, cardiac ischemia, natural polymers, thermosensitive hydrogel

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 657
2 Embryo Transfer as an Assisted Reproductive Technology in Farm Animals

Authors: Diah Tri Widayati

Abstract:

Various assisted reproductive techniques have been developed and refined to obtain a large number of offspring from genetically superior animals or obtain offspring from infertile (or subfertile) animals. The embryo transfer is one assisted reproductive technique developed well, aimed at increased productivity of selected females, disease control, importation and exportation of livestock, rapid screening of AI sires for genetically recessive characteristics, treatment or circumvention of certain types of infertility. Embryo transfer also is a useful research tool for evaluating fetal and maternal interactions. This technique has been applied to nearly every species of domestic animal and many species of wildlife and exotic animals, including humans and non-human primates. The successful of embryo transfers have been limited to within-animal, homologous replacement of the embryos. There are several examples of interspecific and intergeneric embryo transfers in which embryos implanted but did not develop to term: sheep and goat, mouse and rat. An immunological rejections and placental incompatibility between the embryo and the surrogate mother appear to restrict interspecific embryo transfer/interspecific pregnancy. Recently, preimplantation embryo manipulation procedures have been applied, such as technique of inner cell mass transfer. This technique will possible to overcome the reproductive barrier interspecific embryo transfer/interspecific pregnancy, if there is a protective mechanism which prevents recognition of the foreign fetus by the mother of the other species

Keywords: Embryo Transfer, Assisted Reproductive Techology, Intraspesific-Interspesific Pregnancy, Inner cell mass.

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 4671
1 Investigation of Genetic Epidemiology of Metabolic Compromises in ß Thalassemia Minor Mutation: Phenotypic Pleiotropy

Authors: Surajit Debnath, Soma Addya

Abstract:

Human genome is not only the evolutionary summation of all advantageous events, but also houses lesions of deleterious foot prints. A single gene mutation sometimes may express multiple consequences in numerous tissues and a linear relationship of the genotype and the phenotype may often be obscure. ß Thalassemia minor, a transfusion independent mild anaemia, coupled with environment among other factors may articulate into phenotypic pleotropy with Hypocholesterolemia, Vitamin D deficiency, Tissue hypoxia, Hyper-parathyroidism and Psychological alterations. Occurrence of Pancreatic insufficiency, resultant steatorrhoea, Vitamin-D (25-OH) deficiency (13.86 ngm/ml) with Hypocholesterolemia (85mg/dl) in a 30 years old male ß Thal-minor patient (Hemoglobin 11mg/dl with Fetal Hemoglobin 2.10%, Hb A2 4.60% and Hb Adult 84.80% and altered Hemogram) with increased Para thyroid hormone (62 pg/ml) & moderate Serum Ca+2 (9.5mg/ml) indicate towards a cascade of phenotypic pleotropy where the ß Thalassemia mutation ,be it in the 5’ cap site of the mRNA , differential splicing etc in heterozygous state is effecting several metabolic pathways. Compensatory extramedulary hematopoiesis may not coped up well with the stressful life style of the young individual and increased erythropoietic stress with high demand for cholesterol for RBC membrane synthesis may have resulted in Hypocholesterolemia.Oxidative stress and tissue hypoxia may have caused the pancreatic insufficiency, leading to Vitamin D deficiency. This may in turn have caused the secondary hyperparathyroidism to sustain serum Calcium level. Irritability and stress intolerance of the patient was a cumulative effect of the vicious cycle of metabolic compromises. From these findings we propose that the metabolic deficiencies in the ß Thalassemia mutations may be considered as the phenotypic display of the pleotropy to explain the genetic epidemiology. According to the recommendations from the NIH Workshop on Gene-Environment Interplay in Common Complex Diseases: Forging an Integrative Model, study design of observations should be informed by gene-environment hypotheses and results of a study (genetic diseases) should be published to inform future hypotheses. Variety of approaches is needed to capture data on all possible aspects, each of which is likely to contribute to the etiology of disease. Speakers also agreed that there is a need for development of new statistical methods and measurement tools to appraise information that may be missed out by conventional method where large sample size is needed to segregate considerable effect. A meta analytic cohort study in future may bring about significant insight on to the title comment.

Keywords: Genetic disease, Genetic epidemiology, Heterozygous, Phenotype, Pleotropy, ß Thalassemia minor, Metabolic compromises.

Procedia APA BibTeX Chicago EndNote Harvard JSON MLA RIS XML ISO 690 PDF Downloads 6513