Monday, December 16, 2013

Autoantibodies commonly associated with Systemic Lupus Erythematosus (SLE)

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by multisystem inflammation and the presence of circulating autoantibodies directed against self-antigens.Read about ACR criteria for diagnosis of SLE.

The table below illustrates the antibodies associated with various risks in SLE. This is impotant table and a frequent MCQ question as well.


AUTOANTIBODIES COMMONLY ASSOCIATED WITH SYSTEMIC LUPUS ERYTHEMATOSUS (SLE)
ANTIBODY CLINICAL ASSOCIATION
Anti–double-stranded DNA Correlates with disease activity, especially nephritis, in some with SLE
Anti-Smith antibody Specific for the diagnosis of SLE
Anti-ribonucleoprotein antibody
Increased risk for Raynaud phenomenon and pulmonary hypertension
High titer may suggest diagnosis of mixed connective tissue disorder
Anti-Ro antibody (anti-SSA antibody)
Anti-La antibody (anti-SSB antibody)

Associated with sicca syndrome
May suggest diagnosis of Sjogren syndrome
Increased risk of neonatal lupus in offspring (congenital heart block)
May be associated with cutaneous and pulmonary manifestations of SLE
May be associated with isolated discoid lupus
Antiphospholipid antibodies (including anticardiolipin antibodies) Increased risk for venous and arterial thrombotic events
Antihistone antibodies
Present in a majority of patients with drug-induced lupus
May be present in SLE

Monday, December 2, 2013

Tuberculosis in children- Treatment Regimen NTP

DOTS (Directly Observed Treatment, Short-course),  the World Health Organization-recommended tuberculosis control strategy follow the following regimens in treatment of tuberculosis in adult patients compared to children. Nepal Tuberculosis Protocol has been devised for use in TB treatment in Nepal.

Tuberculosis is a prevalent disease in the developing countries with severe consequences specially in children who are more likely to develop dissemination.



Treatment consits of 2 phases-

Initial Intensive Phase- Duration is generally 2 months and it achieves rapid killing of mycobacteria. Infectious patients are rendered non-infectious by 2 weeks. Majority of patients turn sputum positive to negative by 2 months of therapy. DOTS currently focuses more on Intensive phase as the drug resistance likelihood is higher at this phase when mycobateria are more.

Continuation phase- Usually 4-5 months durations. Fewer drugs are used but for a longer duration in this phase. Drugs eliminate the remaining bacilli including persister thus preventing TB repalse. If DOTS is not possible in this phase a close supervision is instituted.

Standard code of Treatment-
Each ATT drug has an abbreviation namely-
Isoniazid- H
Rifampicin- R
PyriZinamide-Z
Ethambutol-E
Streptomycin-S

And two phases as described earlier.

TB TREATMENT CATEGORY PATIENT
Category 1- new sputum smear-positive PTB,sputum negative PTB and extra pulmonary TB.
Category 2 -relapse,treatment failure,treatment after default (interrupted treatment)

Severe Extra pulmonary TB- meningitis, miliary, pericarditis, peritonitis,, bilateral or extensive  pleural effusion, spinal , intestinal , genitor-urinary.
Less Severe Extrapulmonary TB-lymph node,pleural effusion (unilateral),bone (excluding spine), peripheral joint,adrenal gland

Following regimen is recommended by Nepal Tuberculosis Protocol- Click for full image


For Children combination packs have been developed as per weight wise catergory-


The regimens are modified in various Tuberculosis like TB meningitis, TB spine etc. Special scenarios require steroid at the start of therapy-
1. TB Meningitis
2.TB Pericarditis
3.TB Pleural effusion
4. Hypoadrenalism
5.TB laryngitis
6. Severe hypersensitivity reactions to ATT drugs
7.Renal tract TB
8. Massive lymphnode enlargement with compressive effect.

Steroid is given in TBM for 4 weeks then tapered, 8 weeks and tapered in TB pericarditis and 2 weeks in TB pleural effusion.



Sunday, November 10, 2013

Eliciting the Primitive Neonatal Reflexes: Video article

Neonatal reflexes are the reflexes which are present at birth and have a predictable course of appearance and disappearance. A normally developing newborn should respond to certain stimuli with these reflexes, which eventually become inhibited as the child matures.



The List of reflexes that can be elicited in normal newborn are-
  1. Moros Reflex
  2. Rooting reflex
  3. Sucking reflex
  4. Grasp reflex
  5. Babinski reflex
  6. Asymmetric tonic nect reflex- ATNR
  7. Gallant reflex
  8. Stepping reflex
  9. Landau's reflex
  10. Tonic Labyrinthine Reflex

Click on the image to view enlarged version.


After going through the table, you can now watch this video showing the commonly elicited neonatal reflexes and their significance.



Here is a helpful library on Pediatric neurology. 

Saturday, October 26, 2013

Studying pediatrics - is it easy?


Pediatrics is a domain of Medicine that deals with child health, illness and well-being . The word "children " may itself may be hard for many doctors, but pediatrics isn't simply about a word. Here the word "Children" includes - neonates, infants, toddlers, shool-age children and adolescents. Every age group has own horizon.



Why studying pediatrics needs a lot of determination and interest?


As we all know, children are not easy to deal with and many people don't have the patience , passion and rest find it hard to built a rapport with children.

Children are scared of white coat and the hospital environment. As soon as they enter, they begin to resist and doctor may have hard time getting his or her co-operation.




Signs are more important than symptoms in pediatrics. Children may not give a subjective complains, instead doctor has to detect his problem. All small children do is cry. A pediatrician has to find a meaning out of his cry.Sometimes it may be a simple colic to as bad as an intussusception or meningitis.

Most difficult thing is the change in biophysiology in children. Right from birth there is daily to monthly change in vitals, clinical findings, reflexes, behavior. Without proper experience detecting an abnormality might be impossible. Pediatric residents have pockets full of growth charts, reference values and drug dosings.
Even the management is totally different in newborn and older children.
Maintainance fluid requirement , nutritional requirement, dose dosing and interval, whether the drug can be used in children, drug formulations- syrup, drops, DT ect makes it mandatory for residents to carry a drug dosage formulation books. There is no fixed dose as in adults.




Another difficult part is the growth and development part. I have seen even pediatrician surrender to this domain. It is a mighty domain and is a core pediatric subject. Even we are pissed off when we encounter a developmental problem case. It is a matter of dedication and patience.

The next is , Congenital anomaly, dysmorphology and spectra of genetic and metabolic diseases that are an
add on to medicine. Dysmorphology is an unrewarding subject. You are a detective and you find the culprit but its unpunishable at most times.There is always a differential when a child is not growing, seriously or recurrently ill or has other problems and it is this part.

The adolescents to say aren't a different species, but its time when they act different. Aggression, rage, frustration, emotions are all exaggerated during this time and taking them in confidence and giving them the right path is the real challenge.

The most important thing is, it is the most sensitive field in medicine. Everyone value children dearer than their life. When a child is critically ill, counselling the parents is harder than the treatment. Breaking a bad news is a different story. Lot of mishaps have occured.

Last but not the least, no matter how ever you are, you have to act funny.

Still, the children make your everyday special. You cannot be a pediatrician and sad. There is only one option. They dazzle you no doubt. So treating these gift of god is a novel job. Pediatrics however difficult may it be, is worth it.

I may be missing points. you are always welcomed to add in.

Saturday, October 12, 2013

Pulmonary Function Test in children- PFT

PFT- The term encompasses a wide variety of objective methods to assess lung function.

1. Ventilatory Lung Function Tests
  • Spirometry
  • Peak Expiratory Flow Rate
  • Helium Dilution technique
  • Body Plethysmography
2.Assessment of Pulmonary Gas Exchange or Diffusion
  • Blood gas analysis
  • Pulse oximetry
  • Measurement of diffusing capacity
3.Assessment of Pulmonary perfusion
  • Methods of measurement of pulmonary circulation
  • Ventilation-Perfusion by Lung Scan


Pulmonary function testing in infants and young children
  • Plethysmography and nasal pneumotachography
  • Blood gas analysis provides the most sensitive index
  • Paediatric pneumogram

Uses of Pulmonary Function Testing in Children
  • Diagnose lung and chest wall disorders
  • Evaluate unexplained dyspnea
  • Identify airway reactivity
  • Evaluate bronchodilator response
  • Assess preoperative lung function
  • Determine course of respiratory failure
  • Assess prognosis
  • Evaluate exercise-related symptoms

Spirometry
Spirometry is a medical test that measures the volume of air an individual inhales or exhales as a function of time. (ATS, 1994)” .John Hutchinson (1811-1861)—inventor of the spirometer and originator of the term vital capacity (VC).
Measurement devices
  • Volume displacement spirometers
  • Flow sensing spirometers
  • Portable devices
Age:
Age : 6 years and above (Spirometry can be reproducibly done from the age of 5 years but these values should be interpreted with individual considering age, sex, height and nutritional status )
Faridi MMA, Gupta P and Prakash A. Lung functions in malnourished children aged five to eleven years. Indian Pedtiatr 1995; 32(1): 35-42

Reference Values
  • Lung volumes and flow rates vary with age, sex and ethnic group. Ideally Every Lab should develop its own Normal values or use data generated from same population.

A spirometer can be used to measure the following:
  • FVC and its derivatives (such as FEV1, FEF 25-75%)
  • Forced inspiratory vital capacity (FIVC)
  • Peak expiratory flow rate
  • Maximum voluntary ventilation (MVV)
  • Slow VC
  • IC, IRV, and ERV
  • Pre and post bronchodilator studies

Read Lung Volumes and Capacities
Procedure
1. Check spirometer calibration.
2. Explain test.
3. Prepare patient-Ask about recent illness, medication use, etc.
4. Give instructions and demonstrate:
  • Show nose clip and mouthpiece.
  • Demonstrate position of head with chin slightly elevated and neck somewhat extended.
  • Inhale as much as possible, put mouthpiece in mouth (open circuit), exhale as hard and fast as possible.
  • Give simple instructions.
5. Patient performs the maneuver
  • Patient assumes the position
  • Puts nose clip on
  • Inhales maximally
  • Puts mouthpiece on mouth and closes lips around mouthpiece (open circuit)
  • Exhales as hard and fast and long as possible
  • Repeat instructions if necessary –be an effective coach
  • Repeat minimum of three times (check for reproducibility)

Special Consideration in children
  • Ability to perform spirometry dependent on developmental age of child, personality, and interest of the child.
  • Patients need a calm, relaxed environment and good coaching. Patience is key.
  • Even with the best of environments and coaching, a child may not be able to perform spirometry

When is the Test Acceptable?
  • A clear start to the test with an apparently maximum effort
  • A smooth, continuous exhalation maintained for at least
  • 6 seconds, without coughing or Valsalva’s maneuver
  • An obvious end to the test (no change in volume for at least 2 seconds)
  • Subject should perform a minimum of three and a maximum of eight FVC maneuvers until at least two acceptable curves are obtained
  • The reproducibility of the two largest curves should be within 5% or 0.1 L, whichever is greater
  • The recorded FVC should be the maximum value from the acceptable curves
Flow is plotted against volume.
Maximum forced expiratory flow (FEF max) is generated in the early part of exhalation, and it is a commonly used indicator of airway obstruction in asthma and other obstructive lesions.
Provided maximum pressure is generated consistently during exhalation, a decrease in flow is a reflection of increased airway resistance.
The total volume exhaled during this maneuver is forced vital capacity (FVC). Volume exhaled in one second is referred to as FEV1. FEV1/FVC is expressed as a percentage of FVC.
FEV 25%-75% is the mean flow between 25% and 75% of FVC and is considered relatively effort independent.
Individual values and shapes of flow-volume curves show characteristic changes in obstructive and restrictive respiratory disorders
  • In intrapulmonary airway obstruction such as asthma or cystic fibrosis, there is a reduction of FEFmax, FEF25%-75%, FVC, and FEV1/FVC. Also, there is a characteristic concavity in the middle part of the expiratory curve.
  • In restrictive lung disease such as interstitial pneumonia, FVC is decreased with relative preservation of airflow and FEV1/FVC. The flow volume curve assumes a vertically oblong shape compared to normal.

Changes in shape of the flow volume loop and individual values depend on the type of disease and the extent of severity.




Approach to Diagnosis:


Click to enlarge
References
  1. Nelson Textbook of Pediatrics, 19 th edition
  2. PEDIATRIC ASTHMA, ALLERGY & IMMUNOLOGY Volume 16, Number 4, 2003 © Mary Ann Liebert, Inc.Basic Pulmonary Function Testing in Children LAURA S. INSELMAN, M.D.
  3. Interpreting pulmonary function tests:Recognize the pattern, and the diagnosis will follow CLEVELAND CLINIC JOURNAL OF MEDICINE VOLUME 70 • NUMBER 10 OCTOBER 2003
  4. Interpretative strategies for lung function tests Eur Respir J 2005; 26: 948–968 DOI: 10.1183/09031936.05.00035205 CopyrightERS Journals Ltd 2005- ATS/ERS Task Force
  5. American Thoracic Society Documents- An Official American Thoracic Society/European Respiratory Society Statement: Pulmonary Function Testing in Preschool Children
  6. PAEDIATRIC PULMONARY FUNCTION TESTS (PFT) - A Review.- Dhaka
  7. Pulmonary Function Testing in Office Practice Soumya Swaminathan Tuberculosis Research Centre, Indian Council of Medical Research Chetput, Chennai
Submitted by - Dr Sujit Shrestha

Thursday, August 22, 2013

Ectrodactyly or Lobster-claw syndrome : A CASE REPORT


Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected.

It is characterized by transverse terminal aphalangia or partial to total absence of the distal segments of fingers. It may involve one or more digits or the full hand and even part of the upper arm. More severe manifestations are hemimelia or amelia. All these abnormalities are considered to represent various degrees of severity of the same anomaly and may be due to an intrauterine vascular occlusion or insufficiency [2]. These different forms are connected with a different genetic mutation. Type I, the most frequent form has been found to be a mutation on chromosome 7 in a region that contains two homeobox genes, DLX5 and DLX6. 

Usually this is characterized as the split hand/foot deformity due to the absence of the third digit, with clefting into the proximal portion of the hand or foot and syndactyly of remaining digits on each side of the cleft. The hand resembles a lobster claw [3]. The association of ectrodactyly with cleft lip and palate was originally described by Cockayne [4]. It was known as Ectrodactyly-Ectodermal Dysplasia-Cleft lip/palate syndrome (EEC syndrome) [5].

The case:
A female baby was born in Hospital. The primigravidae mother had no significant medical history. There was no history of consanguinity or any other relevant family history. She had uneventful antenatal period and had received all the supplements. There was no gestational diabetes mellitus, pregnancy induced hypertension. Antenatal ultrasound at local health centre showed no congenital abnormalities. After a term pregnancy of 38 weeks, ceasarian section was performed for oligohydraminos with amniotic fluid index of 2. Birth weight was 2.4 kilograms.No resuscitation was required.

 ECTRODACTYLY
Physical examination revealed the following: 
Both her hands were showing lengthening and broadening of the digits. There was a medial cleft in the metacarpals, dividing the hand into two portions. Syndactyly of the remaining fingers was seen. The growth of the digits was more as compared to other body parts. The nails of the affected fingers were maldeveloped . Her legs were normal. Systemic examination of the patient did not reveal any other anomaly. Abdominal ultrasonography did not show any abnormality. Echocardiogram revealed double outlet right ventricle. Hair and teeth were normal and there were no other congenital malformations.

Discussion:
Ectrodactyly is a rare autosomal dominant ectodermal dysplasia. It sometimes may be associated with other ectodermal defects. The most common clinical manifestations of EEC syndrome are ectodermal dysplasia, ectrodactyly, cleft lip/palate and tear duct anomalies. The expression of this may be quite variable with reduced penetrance also. In a review of 230 published cases by Roelfsema et al. [6], ectrodactyly was found in 84%, ectodermal dysplasia in 77%, clefting in 68% and anomalies of lacrimal ducts in 59%. Urogenital defects were reported in 52%. Isolated cases were more severely affected than familial cases [6]. In the present case she only showed lobster claw with double outlet right ventricle. The parents were offered genetic counseling and the mode of inheritance explained. Since ectrodactyly is an autosomal dominant disorder, there are 50% chances of recurrence for the future pregnancies. Genetic studies using mutation analysis was explained to the patient but the patient opted out, as it was very expensive and not available in Nepal. In the present case, the parents left against medical advice.

References
1. Kalla G, Garg A. Ectrodactyly. Indian J Dermatol Venereol Leprol. 2002;68:152–153.
2. Deborah K. The dysostoses. In: Rimoin DL, Connor JM, Pyeritz RE and Korf BR, editors. Principles and practice of medical genetics. 4th ed. London: Churchill Livingstone. 2002; pp. 4170–4171.
3. Jung KR, Jeong C, Jong SC. Ectrodactyly. Korean J Radiol. 2003;4(4):243–251. doi: 10.3348/kjr.2003.4.4.243.
4. Cockayne EA. Cleft palate-lip, hair lip, docrocystitis and cleft hand and foot. Biometrika. 1936;26:60–63.
5. Pries C, Mittleman D, Miller M, et al. The EEC syndrome. Am J Dis Child. 1974;127:840–844.
6. Roelfsema NM, Cobben JM. The EEC syndrome: a literature study. Clin Dysmorphol. 1996;2:115–127.


Article by:

Dr Nischal Maskey
MD Resident
Division of Neonatology
Department of Child Heath, Institute of Medicine, Tribhuvan University
Kathmandu, Nepal

Wednesday, August 14, 2013

Immunization Schedule for Children: National Immunization Program- Nepal

The National Immunization Programme (at the time known as the Expanded Programme on Immunization - EPI) was initiated in 1979 in three districts with only two antigens (BCG and DPT) and was rapidly expanded to include all 75 districts with all six recommended antigens (BCG, DTP, OPV, and measles) by 1988.

In 2003, with the support of the GAVI Alliance, monovalent Hepatitis B (HepB) vaccine was introduced, which was later administered as a single tetravalent (DPT-HepB) injection. In 2009, vaccination against Haemophilus influenzae type b was introduced through out the nation in a phase wise manner starting in Far Western (FWDR) and Western (WDR) Development Regions. Also in 2009, Japanese encephalitis (JE) vaccine was introduced into the routine immunizationprogramme in 16 JE endemic districts following JE mass vaccination campaigns.



Routine immunization Schedule for children and pregnant women

Vaccine
Disease(s) prevented
Number of Doses
Recommended Age
BCG
tuberculosis
1
At birth or on first contact
OPV
Polio
3
6, 10, and 14 weeks of age
DPT-HepB-Hib
Diphtheria, pertussis, tetanus, hepatitis B, andHaemophilus influenzae type b
3
6, 10, and 14 weeks of age
Measles
1
9 months of age
TT
tetanus
2
All Pregnant women
Note – 5 doses of TT vaccine during a woman’s reproductive life
JE
Japanese encephalitis
1
12 to 23 months

Source- http://www.nep.searo.who.int



Year
Activity
1979
*        Started immunization program with BCG and OPV in three districts.
1988
*        Nationwide immunization program with BCG, OPV, DTP, Measles.
1996
*        First nationwide polio immunization campaign.
1998 

*        Polio Eradication Nepal (PEN) was established with four surveillance field offices.
*        Nepal National Certification Committee was formed.
*        Surveillance Medical Officers hired by WHO to support polio eradication activities.
*        International and national review for polio eradication initiatives
2000

*        Last reported indigenous case of poliomyelitis in Nepal.
2001



*        Program expands to 14 surveillance field offices (10 in 2005).
*        National Expert Review Committee starts virological classification of AFP cases.
*        AFP surveillance achieves internationally accepted standards.
2002
*        National Task Force for Laboratory Containment of wild poliovirus formed.
*        TT campaign was initiated (2002-2004, for age 11 to 39 and 15 to 45 years)
2003
*        Measles and tetanus surveillance integrated into AFP surveillance network.
*        National Public Health Laboratory accredited by WHO as a National Laboratory for Measles surveillance.
*        National immunization injection safety policy
*        Hepatitis B included in the routine immunization schedule.
2004

*        Surveillance for acute encephalitis syndrome (AES) for Japanese encephalitis (JE) integrated into AFP surveillance.
*        Nationwide Measles catch up immunization campaign initiated (2004-2005, in three phases).
2005
*        Neonatal tetanus elimination achieved.
*        Sentinel surveillance for Haemophilus Influenzae type b initiated.
*        Immunization Officers hired to support routine immunization.
*        School immunization was initiated with TT for student (grade 1, 2 and 3) in 8 districts
2006
*        Japanese encephalitis catch up campaigns initiated in high risk districts.
*        International and national AFP surveillance review.
2007
*        Measles case-based surveillance initiated.
2008
*        Measles follow up campaign integrated with OPV nationwide (in two phases).
*        Rubella burden of disease studies initiated.
*        National Committee for Immunization Practice Formed.
2009
*        Hib vaccine included in the routine immunization schedule.
*        JE vaccine included in the routine immunization schedule in 17 districts that completed catch up campaigns.
*        EPI coverage survey.
*        Sentinel surveillance site for rotavirus initiated.
*        Sentinel sites for Hib disease expanded to include pneumococcal disease.
*        Initiated pneumonia surveillance to support H5N1, H1N1 influenza through AFP surveillance network.
*        Provided technical support for cholera outbreak in Mid West Development Region.
2010
*        International and national review of vaccine preventable diseases and EPI.

This Article is taken from WHO website for Nepal