Paeds Flashcards
5 common childhood cancers
5 foremost childhood cancers in South Africa are (registry statistics 2009-2013:
Leukaemia
Lymphoma
Brain tumours
Nephroblastoma/ tumour
Bone cancer/Soft tissue sarcoma
Cancer registry
Collect accurate and complete cancer data
that can be used for cancer control and epidemiological research, public health program planning, and patient care improvement.
Ultimately, these activitiesreduce the burden of cancer
St siluan early warning signs of childhood cancer (acronym)
S - seek help if there are symptoms
I - white spots in eye, squinting, bulging
L - lump in body parts
U - unexplained fever > 2 weeks, loss of weight, pallor, fatigue, bleeding or bruising
A - aching of bones, joints, back and fractures
N- Neurological signs (walking, balance, speech)
Most common acute leukaemia
Adult acute myeloid leukemia (AML) is a type of cancer in which the bone marrow makes a large number of abnormal blood cells. AML is a cancer of the blood and bone marrow. It is the most common type of acute leukemia in adults. This type of cancer usually gets worse quickly if it is not treated.1
Why do childhood cancers develop
Prenatal exposure to X-rays
Postnatal exposure to high doses of radiation (e.g. therapeutic radiation as previously used for conditions such as tinea capitis and thymus enlargement)
Previous treatment with chemotherapy
Genetic conditions; e.g Down syndrome and risk of leukaemia
Burkitt Lymphoma
an aggressive non-Hodgkin B-cell lymphoma. The disease is associated with Epstein Barr virus (EBV), human immunodeficiency virus (HIV), and chromosomal translocations that cause the overexpression of oncogene c-myc.
Burkitt Lymphoma
an aggressive non-Hodgkin B-cell lymphoma. The disease is associated with Epstein Barr virus (EBV), human immunodeficiency virus (HIV), and chromosomal translocations that cause the overexpression of oncogene c-myc.
Burkitt’s leukemia as opposed to lympjoma
Burkitt’s leukemia occurs when the bone marrow contains a certain level of Burkitt’s lymphoma cells.
Burkitt’s leukemia as opposed to lymphoma
Burkitt’s leukemia occurs when the bone marrow contains a certain level of Burkitt’s lymphoma cells.
Most common autoimmune condition in kids
Systemic lupus e - SLE
attacks your child’s body tissues, including the lungs, kidneys and skin
Most common renal tumour
Nephroblastoma - Wilm’s tumour
Wilm’s tumour symptoms
large flank mass, haematuria and hypertension
Hypertension is due to activation of RAS (renin release) and compression of renal vasculature due to tumor
About 10% of children with Wilms tumor have a congenital anomaly that predisposed them to its development
Hemihypertrophy - one side larger than the other
Urinary tract anomalies, including cryptorchidism and hypospadias
Beckwith Wiedeman syndrome
Examples of autosomal dominant disorders
Familial hypercholesterolaemia
Neurofibromatosis
Marfan’s syndrome
Achondroplasia
Coronary artery disease / atherosclerotic heart disease
Damage or disease in the heart’s major blood vessels.
The usual cause is the build-up of plaque. This causes coronary arteries to narrow, limiting blood flow to the heart.
Coronary artery disease can range from no symptoms, to chest pain, to a heart attack.
Familial hypercholestrolemoa describe and features
High levels of LDL
Mutations in the LDLR gene (>700 mutations)
Causes premature coronary artery disease
Heterozygous/homozygous forms
Founder effect- Afrikaner population
(1 in 100 individuals affected)
Neurofibromatosis type 1 - what’s the spots called
Cafe au lait
Ahcindroplasia
Skeletal dysplasia - short limbed dwarfism
Achondroplasia is a genetic condition affecting a protein in the body called the fibroblast growth factor receptor. In achondroplasia, this protein begins to function abnormally, slowing down the growth of bone in the cartilage of the growth plate.
Hemolysis
Hemolysis is the destruction or breakdown of red blood cells (erythrocytes). Seen in sickle cell anaemia
Hunter syndrome
syndrome is a rare genetic disorder in which your child’s body doesn’t properly break down (digest) certain sugar molecules. When these molecules build up in organs and tissues over time, they can cause damage that affects physical and mental development.
X linked recessive occurring in males
AMBULATION
Ambulation is the ability to walk from place to place independently, with or without assistive devices. Early walking is one of the most crucial things seniors can do after surgery to prevent postoperative complications.
Seen in Duchenne dystrophy
Huntington’s disease
An inherited condition in which nerve cells in the brain break down over time.
It typically starts in a person’s 30s or 40s.
Usually, Huntington’s disease results in progressive movement, thinking (cognitive) and psychiatric symptoms.
No cure exists, but drugs, physiotherapy and talk therapy can help manage some symptoms.
Spinocerebellar ataxias
Spinocerebellar ataxia (SCA) is a group of inherited brain disorders. It affects your cerebellum, a part of your brain vital to coordination of physical movement, and sometimes your spinal cord. This inherited condition worsens over time and causes specific problems with coordination, usually affecting: Eyes.
Myotonic dystrophy
Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle.
Epigentic disorder with hyotonia
Prader-Willi syndrome (PWS) is characterized by severe hypotonia, poor appetite, and feeding difficulties in early infancy, followed in early childhood by excessive eating and gradual development of morbid obesity (unless food intake is strictly controlled). Motor milestones and language development are delayed.
Epigenetic disorder with hypoglycaemia
Beckwith-Wiedemann syndrome (BWS) is a congenital growth disorder, which means it’s present at birth. BWS has various signs and symptoms, including a large body size at birth and taller-than-average height during childhood, a large tongue, and hypoglycemia (low blood sugar).
Teratogenic drug with 50% risk and why
Isotretinoin (roaccutane) - can cause craniofaciak abnormalities
Disorder of alcohol teratogen
EFINITIONS:
FASD (fetal alcohol spectrum disorder):
A continuum of disabilities related to effects on developing brain
Alcohol related neurodevelopmental disorder (ARND),alcohol related birth defect (ARBD)
FAS (fetal alcohol syndrome):
Most severe end of the FASD spectrum
Has a characteristic pattern of dysmorphic features
Microcephaly
Microcephaly is a condition where a baby’s head is much smaller than expected. During pregnancy, a baby’s head grows because the baby’s brain grows. Microcephaly can occur because a baby’s brain has not developed properly during pregnancy or stopped growing after birth
Clinical manifestations of FASD
Microcephaly
Growth restriction
Dysmorphic features (short palpebral fissures), smooth philtrum and thin vermillion border
Limbs – radiolunar synostosis, clinodactyly
Cardiac defects (birth defects)
Behavioural/cognitive/learning difficulties
Radio ulnar synostosis
Radioulnar synostosis is a rare condition in which the two bones of the forearm — the radius and the ulna — are abnormally connected.
Hypoxaemia
Hypoxemia is low levels of oxygen in your blood. It causes symptoms like headac
What is a shunt
Short - an irregular pattern of blood low in your heart.
In cardiology, a cardiac shunt is a pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. It may be described as right-left, left-right or bidirectional, or as systemic-to-pulmonary or pulmonary-to-systemic.
a passage by which blood moves from one area (blood vessel or heart chamber) to another in a pattern that isn’t normal.
ASD
An atrial septal defect (ASD) is a heart condition that you’re born with between atria . That means it’s a congenital heart defect. People with an ASD have a hole between the upper heart chambers. The hole increases the amount of blood going through the lungs
Luckil6 not very common
As a baby develops in the womb, a wall (septum) forms that divides the upper chamber into a left and right atrium. When this wall does not form correctly, it can result in a defect that remains after birth. This is called an atrial septal defect, or ASD.
Causes
Normally, blood cannot flow between the two upper heart chambers. However, an ASD allows this to happen.
When blood flows between the two heart chambers, this is called a shunt. Blood most often flows from the left to the right side. When this happens the right side of the heart enlarges. Over time pressure in the lungs may build up. When this happens, the blood flowing through the defect will then go from right to left. If this occurs, there will be less oxygen in the blood that goes to the body.
Differences between secundum and primum septal defects
Atrial septal defects are defined as primum or secundum.
The primum defects are linked to other heart defects of the ventricular septum and mitral valve.
Secundum defects can be a single, small or large hole. They may also be more than one small hole in the septum or wall between the two chambers.
Sinus venous septal defect
A sinus venosus atrial septal defect is a type of atrial septal defect primarily associated with the sinus venosus. They represent 5% of atrial septal defects. They can occur near the superior vena cava or inferior vena cava, but the former are more common.
Sinus venous
The sinus venosus is a cardiac chamber upstream of the right atrium that harbours the dominant cardiac pacemaker. During human heart development, the sinus venosus becomes incorporated into the right atrium.
Effects of post tricuspid shunts
Post-tricuspid shunts lead to increased flow and pressure to the pulmonary vasculature up to systemic pressure levels, leading to a more rapid progression of abnormal pulmonary vascular remodeling, often early in childhood.
Effects of pre tricuspid shunts
Pre-tricuspid shunts are left-to-right (or bidirectional) shunts at a low-pressure level, which lead to volume load on the right ventricle (RV) and pulmonary circulation, without immediate or midterm increase of pulmonary arterial pressure (PAP).
PS murmur
Pulmonic stenosis (PS) is narrowing of the pulmonary outflow tract causing obstruction of blood flow from the right ventricle to the pulmonary artery during systole. Most cases are congenital; many remain asymptomatic until adulthood. Signs include a crescendo-decrescendo ejection murmur.
TS murmur
The murmur of tricuspid stenosis is mid-diastolic at the left lower sternal border (tricuspid listening post). Since venous return increases during inspiration, the murmur can be louder with this maneuver. This is different than Carvallo’s sign which occurs in the setting of tricuspid valve regurgitation.
Coarctation
A narrowing of the large blood vessel (aorta) that leads from the heart.
Coarctation of the aorta is usually present at birth (congenital) and may occur with other heart defects.
Many people have no symptoms and the condition often isn’t detected until adulthood. The most common symptom in adults is high blood pressure. Rarely, severe cases can cause heart failure in babies.
