Lapkas Pediatric =)

7/30/2019 Lapkas Pediatric =)

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SUSPECT THALASSEMIA ,

MALNUTRITION AND PERICARDIAL

EFFUSION

Presenter :

Sasikala S. Balakrishnan

Yeoh Shu Ting

Supervisor :

Dr. Tina Christina L. Tobing, SpA (K)


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Background

Thalassaemia is a group ofinheriteddisorders of hemoglobin synthesis characterized bya reduced or absent one or more of the globinchains of adult hemoglobin .Genetic autosomal recessive blood disease.

Currently, there are approx. 1000 patients withsevere thalassemia in the US

The incidence of thalassemia trait within theethnic groups involved ranges from 3% to 5%

50-100/1000 in southeast Asia 30/1000 worldwide

150-300/1000 in Italy, Greece, and amongAmericans of Italian or Greek descent


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Pericardial effusion defines the presence

of an abnormal amount and/or character of

fluid in the pericardial space. It can be caused

by a variety of local and systemic disorders, or it

may be idiopathic.

Pericardial effusions can be acute or

chronic, and the time course of developmenthas a great impact on the patient's symptoms.


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4

Thalassemia

Mediterranean Anemia- 1st published in1925

May be either homozygous defect or

heterozygous defect.


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Demographics: Thalassemia

Found most frequentlyin the Mediterranean,

Africa, Western andSoutheast Asia, Indiaand Burma


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GeneticTypes of Thalassaemia :

There are TWO basic groups of thalassaemia.

Alpha ( )Thalassaemia

Beta ( )Thalassaemia


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Alpha Thalassemia

Alpha Thalassemia: deficient/absent alphasubunits

Excess beta subunits

Excess gamma subunits newborns Five types:

Silent Carrier

Trait (Minor)

Hemoglobin H Disease

Major (Hemoglobin Barts)

Hemoglobin Constant Spring

/ /

/

/


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Genetic basis of Alpha Thalassemia

Encoding genes on chromosome 16 (short arm)

Each cell has 4 copies of the alpha globin gene Each gene responsible for production of alpha

globin

4 possible mutation states: Loss of ONE gene silent carrier

Loss of TWO genes thalassemia minor (trait)

Loss of THREE genes Hemoglobin H

Accumulation of beta chains Association of beta chains in groups of 4 Hemoglobin H

Loss of FOUR genes Hemoglobin Barts NO alpha chains produced only gammachains present Association of 4 gamma chains Hemoglobin Barts


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Classification & Terminology

AlphaThalassemia

Normal /

Silent carrier - /

Minor -/-

--/

Hb H disease --/-

Barts hydrops fetalis --/--


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Beta Thalassemia

Beta Thalassemia: deficient/absent beta

subunits

Commonly found in Mediterranean, Middle

East, Asia, and Africa

Three types:

Minor

Intermedia

Major (Cooley anemia)

May be asymptomatic at birth as HbF functions


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Genetic basis of Beta Thalassemia

Encoding genes on chromosome 11 (short arm)

Each cell contains 2 copies of beta globin gene beta globin protein level = alpha globin protein level

Suppression of gene more likely than deletion 2 mutations: beta-+-thal / beta-0-thal

Loss of ONE gene thalassemia minor (trait)

Loss of BOTH gene complex picture 2 beta-+-thal thalassemia intermedia /

thalassemia major 2 beta-0-thal thalassemia major

beta-+-thal / beta-0-thal thalassemia major

Excess of alpha globin chains


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Classification & Terminology

Beta Thalassemia

Normal /

Minor /0

/+

Intermedia 0/+

+/+

Major 0/0+/+

0/+


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Pathophysiology

Disturbance of ratio between Alpha & non alpha

globin chain synthesis then absent or decrease

production of one or more globin chains

Formation of abnormal Hb structures

Ineffective erythropoiesis

Excessive RBCs Destruction

Iron Overload

Extra-medullary hematopoiesis


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Clinical Manisfestation of Alpha

Thalassemia

Silent carriers asymptomatic normal

Alpha Thalassemia minor (trait) no anemia

microcytosis-unusually small red blood cells due to fewer Hb in RBC

normal

Alpha Thalassemia intermedia (HemoglobinH) microcytosis & hemolysis (breakdown of RBC)

- results in severe anemia

bone deformities

splenomegaly (enlargement of spleen)

severe and life threatening


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Clinical Manisfestation of Beta

Thalassemia

Beta Thalassemia minor (trait) asymptomatic microcytosis

minor anemia

Beta Thalassemia intermedia

symptoms similar to Cooley Anemia but less severe

Beta Thalassemia major (Cooley Anemia) most severe form

moderate to severe anemia

intramedullary hemolysis (RBC die before full development)

peripheral hemolysis & splenomegaly

skeletal abnormalities (overcompensation by bone marrow) increased risk of thromboses

pulmonary hypertension & congestive heart failure


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Signs & Symptoms

Thalassaemia Minor :Usually no signs or symptoms

except for a mild anemia.

Thalassaemia Major :

1. Paleness, Jaundice or yellow coloured skin.

2. Growth retardation.

3. Bony abnormalities specially of the facial bones.4. Enlarged spleen and liver.


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DIAGNOSIS


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PERIPHERAL BLOOD FILM

Hypochromasia,microcytosis,hypochromic

macrocytes that represent

polychromatophilic cells,nucleated RBC,

basophilic stippling, immature leukocytes

Supra vital stain in hemoglobin H disease

that reveals heinz bodies(golf ballappearance)
http://refimgshow%284%29/http://refimgshow%285%29/


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Increased erythropoiesis in the bone marrow of patients with -

thalassemia major expands the marrow cavity producing the typical

hair-on-end appearance as seen on this radiograph of the skull of aboy with -thalassemia.


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Bone Marrow aspirationLiver biopsy

ECG and echocardiography

HLA typingEye examinations, hearing

tests, renal function tests,

frequent blood counts


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DIFFERENTIALDIAGNOSIS

Iron deficiency anemia

Acute leukemia

MalariaRhesus incompatibility


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TREATMENT

Blood transfusion

Chelation

Bone marrow transplant

Splenectomy should be considered when:

Annual blood requirements exceed 200 cc/kg/yr.

Splenic enlargement is accompanied by symptomssuch as left upper quadrant pain or early satiety.

Leucopenia or thrombocytopenia causing clinicalproblems (e.G. Recurrent bacterial infection or

Bleeding).


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Guidelines to begin transfusion..

(i)Confirmed laboratory diagnosis of thalassaemia major;

(ii) Laboratory criteria:

Hb < 7g/dl on 2 occasions, > 2 weeks apart (excluding all othercontributory

causes such as infections)

or

(iii) Laboratory and clinical criteria, including:

- Hb > 7g/dl with:

- Facial changes

- Poor growth

- Fractures, and

- Extramedullary haematopoiesis


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Transfusion programs

Recommended treatment for thalassaemia major involves:

lifelong regular blood transfusions, administered every two to

five weeks, to maintain the pre-transfusion hemoglobin level

above 9-10.5 g/dl.

A higher target pre-transfusion hemoglobin level of 11-12 g/dl

appropriate for patients with heart disease or other medical

conditions.


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IRON CHELATORS:

Desferioxamine (Desferal)

Deferiprone (Feriprox)

Deferasirox (Exjade, Icl670)


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COMPLICATION

iron overload

Repeated transfusions- blood-borne

diseases(hepatitis B and C),pyrexia

High-output cardiac failureOsteoporosis

Hyperbilirubinemia, gallstones long-term

increased red-cell turnover

GoutDesferrioxamine- local reaction, high frequency

hearing loss


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PROGNOSIS

Quality of life can drastically improve by

supertansfusion and chelation therapy

Bone marrow transplant, if possible, is

curative.


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MALNUTRITION

Th ti l f k f N t iti P bl s


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Theoretical framework of Nutrition Problems.

Nutrition problems

Food intake Infect Disease directcauses

Food availability Mother & child Health indirect

in household caring service causes

POOR FAMILY & EDUCATION, main

FOOD STUFF & JOB OPPORTUNITY problem

ECONOMIC & POLITIC CRISIS core

problem

Three level of determinants lead to nutrition status


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Three level of determinants lead to nutrition status

Immediate :Inadequacy of dietary intake

manifested :

- PEM

- Micronutr.deficiency

- Diarrhea & worm disease

- ARI

Supply & coverage immuniz

Immediate :Inadequacy of dietary intake

manifested :

-PEM- Micronutr.deficiency

- Diarrhea & worm disease

- ARI

Supply & coverage immuniz

Underlying :- Household food security

- Access to PHC

- Community of awareness &

care for children & women

Basic :- Socio-economic conditions

(poverty & crisis)

- Political factors

- Traditional practices (infant

feeding)

- Environment & sanitation

Intervention programs

Supply side :- access : health care facilities

- supplementation of food &

micronutr.

- immunization

- quality: providersskill- information system: coverage

of suplpement., fortification,

surveillance, etc.

Demand side:- empowerment

- family awareness of nutrition

- subsidies / health insurance

Health &

Nutrition

Status of

Children


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PERMASALAHAN MEP :tmerupakan primadona masalah kesehatan gizi

t berperan pd. morbiditas & mortalitas anak

t deteksi dini dan tatalaksananya penting sebagaiupaya pencegahan melanjutnya MEP

t MEP berat perlu perawatan di intensif di RS

t Berdampak jangka panjang thd. kualitas SDM

MEP


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MEP.

Klasifikasi Gizi Buruk :

1. GOMEZ (195..) : BB/U

2. MacLarren (196..) : Klinis + laboratoris3. The Wellcome : Klinis + antropometris

Trust Party (1970)

4. Waterlow (1973) : BB/TB

5. WHO (1999) : Klinis + antropometris

MEP


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MEP.

Klasifikasi Gizi Buruk :Wellcome classification of severe forms of protein-energymalnutrition

Percentage ofstandard weight for

age

Oedema present Oedema absent

60-80 Kwashiorkor Undernourishedhment


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MEP.

Klasifikasi Gizi Buruk (WHO,1999) :Gizi kurang Gizi buruk

Edema simetris -- +(oedematousmalnutrition)

BB/TB -3< Z-score


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Feature Kwashiorkor Marasmus

Growth failure Present Present

Wasting Present Present, marked

Oedema Present (mild) Absent

Hair changes Common Less common

Mental changes Very common Uncommon

Dermatosis, flaky-paint Common Does not occur

Appetite Poor Good

Anaemia Severe (sometimes) Present, less severe

Subcutaneous fat Reduced but present Absent

Face May be oedematous Drawn in, monkey-like

Fatty infiltration of liver Present Absent

Clinical Feature of Marasmus and Kwashiorkor


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Pericardial Effusion


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What is it?

Fibrous sac surrounding heart-dense network of

collagen fibres

Serous membrane

two continuous layersseparated by a small amount of fluid lubricant

(10-20mls straw coloured)

Layers are called visceral and parietal

Visceral is inner layer (epicardium)

Parietal is continuous with diaphragm and outer

walls of great arteries


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Where is it?

Surrounds the heart

Continuous with the great arteries and the

diaphragm


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What is its function?

Stabilises the position of the heart within the

chest

Prevents friction between the moving heart

and adjacent structures

Allows for small acute changes in size and

shape but limits ventricular filling (not the

case in chronic setting)


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Pericardial Effusion

Normal: 15-50 ml of thin serous fluid

Sudden increase: up to 200 ml: OK

between 200 and 300 ml: can be fatal

Slow increase: up to 2 liters: OK


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Normal heart and Pericardial effusion


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Symptoms

exercise intolerants

Dull chest pain

dyspnea at rest

ascites pallor mucosa

anorexia

cough Weakness


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Signs

TachycardiaHypotension

Signs of shock

Jugular venous distension


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Diagnosis & Laboratorium Studies

The following lab studies may be performed in

patients with suspected pericardial effusion.

Electrolytes - Metabolic abnormalities (eg,

renal failure) CBC count with differential - Leukocytosis for

evidence of infection, as well as cytopenias, as

signs of underlying chronic disease (eg, cancer,HIV)

Cardiac enzymes

Pericardial fluid analysis


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Imaging StudiesChest radiography

enlarged cardiac silhouette (so-calledwater-bottle heart)

Image is from a patient

with malignant

pericardial effusion. Note

the "water-bottle"

appearance of the

cardiac silhouette in the

anteroposterior (AP)

chest film.


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Echocardiography

is the imaging modality ofCHOICE for the

diagnosis of pericardial effusion, as the

test can be performed rapidly and in

unstable patients. Most importantly, the contribution of

pericardial effusion to overall cardiac

enlargement and the relative roles oftamponade and myocardial dysfunction to

altered hemodynamics can be evaluated

with echocardiography


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Differential diagnosis

Cardiac Tamponade

Pericarditis, Constrictive-Effusive

Cardiomyopathy, Dilated

Pericarditis, Uremic Myocardial Infarction

Pulmonary Edema, Cardiogenic

Pericarditis, Acute Pulmonary Embolism

Pericarditis, Constrictive


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TreatmentMedication

Aspirin/nonsteroid anti inflammatory agents(NSAIDS)

Most acute idiopathic or viral pericarditis

occurrences are self-limited and respond to

treatment with aspirin or another NSAID.

Aspirin may be the preferred nonsteroidal agent to

treat pericarditis after myocardial infarction

because other NSAIDs may interfere withmyocardial healing.

Indomethacin should be avoided in patients who

may have coronary artery disease.


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Antibiotics

In patients with purulent pericarditis,urgent pericardial drainage combined

with intravenous antibacterial therapy

(eg, vancomycin 1 g bid, ceftriaxone 1-2 gbid, and ciprofloxacin 400 mg/d) is

mandatory. Irrigation with urokinase or

streptokinase, using large catheters, may

liquify the purulent exudate, but open

surgical drainage is preferable.


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The initial treatment oftuberculous

pericarditis should include isoniazid 300

mg/day, rifampin 600 mg/day,

pyrazinamide 15-30 mg/kg/day, and

ethambutol 15-25 mg/kg/day.

Prednisone 1-2 mg/kg/day is given for

5-7 days and progressively reduced to

discontinuation in 6-8 weeks.

Drug sensitivity testing is essential.


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Surgical Care

Subxiphoid pericardial window with pericardiostomy

Thoracotomy

Video-assisted thoracic surgery

Consultations

A CARDIOLOGIST should be involved in the care ofpatients with pericardial effusion.

Complication


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ComplicationPericardial tamponade

Can lead to severe hemodynamic compromise and

death.

Heralded by equalization of diastolic filling pressures.

Treat with expansion of intravascular volume (small

amounts of crystalloids or colloids may lead to

improvement, especially in hypovolemic patients) and

urgent pericardial drainage. Avoid positive-pressure

ventilation if possible, as this decreases venous return

and cardiac output. Vasopressor agents are of littleclinical benefit.

Chronic pericardial effusion

Effusions lasting longer than 6 months.

Usually well tolerated.


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PROGNOSISMost patients with acute pericarditis recover without

sequelae.Predictors of a WORSE OUTCOME include the

following: fever greater than 38C, symptoms

developing over several weeks in association with

immunosuppressed state, traumatic pericarditis,

pericarditis in a patient receiving oral anticoagulants, a

large pericardial effusion (>20 mm echo-free space or

evidence of tamponade), or failure to respond to

NSAIDs.

Patients with symptomatic pericardial effusions from

HIV/AIDS or cancer have high short-term mortality

rates.


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Discussion & Summary


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Thank you

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