Thursday, 12 April 2018

Story of Evolution: Genetics and Clinical Trials in Pediatrics

Story of Evolution: Genetics and Clinical Trials in Pediatrics

 Some children born healthy with no medical issues or birth defects, some children are born with defects in body structure, brain development, or body chemistry that leads to problems with their health, development, school performance, social interaction etc, those imbalance and disorders are the genetic disorders.  The trained person or doctors who could identify the real cause of these disorders are known as pediatric geneticist. They suggest tests and treatments that can help in understanding and caring for the child’s condition. The genetics of a child belongs to their own ancestors the only difference left is of 1% genes which makes us different from each other. Disorders occur due to some deficiency or excess of chromosomes which differentiates a normal child from others.

Pediatrics genetic disorders involves,
Congenital skeletal diseases:  Achondroplasia, Skeletal dysplasias: Specific disorders, Craniofacial anomalies, Craniosynostosis syndromes, Facial clefts and holoprosencephaly , Microcephaly: A clinical genetics approach
Cytogenetic abnormalities:  Beckwith-Wiedemann syndrome, Clinical manifestations and diagnosis of Turner syndrome
Congenital cytogenetic abnormalities: Down syndrome: Clinical features and diagnosis , Down syndrome: Management , Microdeletion syndromes (chromosomes 1 to 11) (chromosomes 12 to 22) , Microduplication syndromes, Sex chromosome abnormalities.
Dermatologic disorders: The genodermatoses , Dysmorphology etc.

Birth defects

Their Epidemiology, Types and Patterns: Glycogen storage diseases, Glucose-6-phosphatase deficiency (glycogen storage disease I, von Gierke disease), Glycogen branching enzyme deficiency (glycogen storage disease IV, Andersen disease),      Glycogen debrancher deficiency (glycogen storage disease III) , Lactate dehydrogenase deficiency , Liver glycogen synthase deficiency , Liver phosphorylase deficiency (glycogen storage disease VI, Hers disease) , Lysosomal acid alpha-glucosidase deficiency , Lysosome-associated membrane protein 2 deficiency (glycogen storage disease IIb, Danon disease), Myophosphorylase deficiency (glycogen storage disease V, McArdle disease) , GLUT2 deficiency and aldolase A deficiency, Phosphofructokinase deficiency (glycogen storage disease VII, Tarui disease) , Phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency, Phosphorylase b kinase deficiency.
Inborn errors of metabolism:  Congenital disorders of creatine metabolism , Disorders of tyrosine metabolism, Galactosemia, Gaucher disease , Mucopolysaccharidoses: , Organic acidemias , maple syrup urine disease , phenylketonuria , Specific fatty acid oxidation disorders, Urea cycle disorders, Wilson disease.

Neurologic disorders: Charcot-Marie-Tooth disease , Osler-Weber-Rendu syndrome, Fabry disease , Fragile X syndrome , Huntington disease , Krabbe disease , hereditary hemorrhagic telangiectasia, Metachromatic leukodystrophy, von Hippel-Lindau disease , Neurofibromatosis type 1 (NF1), Niemann-Pick disease , Rett syndrome , The spinocerebellar ataxias , Tuberous sclerosis complex
Renal disease:  Autosomal dominant polycystic kidney disease in children , Autosomal dominant tubulointerstitial kidney disease (medullary cystic kidney disease) , Autosomal recessive polycystic kidney disease in children , von Hippel-Lindau disease , Congenital and infantile nephrotic syndrome , Cystinosis , Genetics and pathogenesis of nephronophthisis , Nail-patella syndrome , Primary hyperoxaluria , Williams-Beuren syndrome .

Disorders needs treatment for which we use medicines and go for some clinical trials and those clinical trials involves some experimentation. They provide some reliable evidence and controlled testing with their knowledge of medicines and treatments. Paediatric trials are more challenging to conduct than trials in adults due the concern of child and ethics, still the advancement and technological growth are improving the quality of clinical trials in children.

Pharmacokinetic studies, required for assigning the dosage forms and quantity of medicinal doses are important in the different paediatric age ranges, any type of analysis and dosage issues are followed only after the consideration of child age and the related pharmacodynamics with that particular disorder or treatment. Lastly all this procedures and methods are completely handled under the guidance of health organization, all the risks and framework are under the wellbeing safeguard of the department of health and human services  reviewing with the ethics of paediatrics .these ethics and developmental science will surely leads to a disease free world.

Saturday, 7 April 2018

Heart: The Pumping Organ

Heart: The Pumping Organ
The Heart, a muscular organ, pumps blood through the blood vessels, supply oxygen by this means of flowing blood. The deposition of fatty acids or unwanted particles causes diseases as they do not allow the blood to flow leading to the heart diseases.
Heart disease, word itself includes so many things and diseases within itself in both adults and children. This includes many different types of problems that can also be taken as life threatening Pediatric heart disease is a term used to describe several different heart conditions in children. The most common type of pediatric heart disease is congenital. Child born with such disease. It could be diagnosed earlier in the time period of infant or may be diagnosed later in the adult stage of the life. Heart diseases are difficult enough adults and can be tragic in children.
There are different types of heart problems that can affect children includes congenital heart defects, viral infections that affect the heart, and even heart disease acquired in earlier stages due to illnesses or genetic syndromes. Congenital heart disease (CHD) is a type of heart disease with which the child is born with, usually caused by the genetic issues with the parents or in family traits. These heart defects may have long-term effects on a child’s health. They’re usually treated with surgery, catheter procedures, medications, and in severe cases, heart transplants.
Symptoms include:
·         Narrowing of the aortic valve, which restricts blood flow, causes heart valve disorders.
·         The left side of the heart is underdeveloped, leads to hypoplastic left heart syndrome.
·         Disorders involving holes in the heart walls between the chambers and between vessels
·         Ventricular septal defects
·         Atrial septal defects
·         Patent ductus arteriosus
·         Tetralogy of Fallot, combination of four defects
·         A hole in the ventricular septum
·         A narrowed passage between the right ventricle and pulmonary artery
·         A displaced aorta.

Various Heart diseases includes:
·         Atherosclerosis
·         Arrhythmias
·         Kawasaki disease
·         Heart murmurs
·         Pericarditis
·         Rheumatic heart disease
·         Viral infections
·         Dilated Cardiomyopathy
·         Hypertrophic Cardiomyopathy
·         Atrial Septal Defect (ASD)
·         Ebstein’s Anomaly
·         Ventricular Septal Defect (VSD)
·         Pulmonary Stenosis
·         Hypoplastic Left Heart Syndrome
·         Atrial Septal Defect (ASD)
Diagnostic Tests includes:
·         Prenatal ultrasound
·         Chest x-ray
·         Electrocardiogram (ECG)
·         Echocardiogram
·         Cardiac catheterization
·         Stress test (dobutamine or exercise)
·         Cardiac MRI
With increased advancement in science and technology the diagnosis and management of heart disease in pediatric have taken a lot better place and grown up with the advances working with the during the last-four decades, advances in molecular genetics and defining the familial patterns have helped a lot in finding the genetic and molecular factors linked to congenital heart disease and arrhythmia, providing opportunity for improved genetic counselling and future gene therapy. Advanced Medical treatment of congenital heart disease targets not only the augmentation of ventricular contractility but also the derangement or any issues in the physiology associated with it. The ultrasound technology and many more for the better treatment and facilities in improving the paediatric heart conditions and their treatments.

Most supplements for children do not contain enough vitamin-D

Vitamins  are important for the well being of an individual as they help in smooth functioning of several body systems. Low levels...