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Dr Ebin Roshan Paul
Assistant Professor & Clinical Geneticist
PK DAS Institute of Medical Sciences, Ottapalam, Kerala
 Journal club : an educational meeting where an article
is read, evaluated and discussed.
 Meeting where “critical analysis” of research journal
done
Critical analysis
 Critical analysis: “systematic process” through which
the strength and weakness of a study revealed.
 “putting the research in to practice”
Why we need critical analysis ?
 Common misconceptions about research articles
 1) article published in a scientific journal is always
correct
 2) presence of “paid journals” in scientific community
Critical analysis
 Not based on negative intentions.
 quality of the study
 based pre specified set of criteria
 whether the findings are trustworthy and useful
 balanced: alternative suggestions provided to
strengthen and avoid weakness
Types of study
Epidemiology (Greek word)
Epi: on
Demos: population
Logos: study
Guidelines for reporting studies
 CONSORT : RCT
 PRISMA: Systematic reviews and Meta analysis
 STROBE: Observational studies (Descriptive)
 Based on EQUATOR recommendations
EQUATOR Network
 Enhancing the Quality and Transparency Of health
Research.
 international initiative that aims to improve the
quality of research publications.
 provides a comprehensive list of reporting guidelines
https://www.equator-network.org/
STROBE checklist
 Strengthening The Reporting of OBservational
studies in Epidemiology.
 22 item checklist
 18 items are common - Cohort, CC and CS study
 6/12/14/15 varies with each design.
https://www.equator-network.org/
Our article for critical analysis
1. Overview of paper
 Journal and Year
 Article Title – key objectives
 Authors and Institution
 Corresponding author
https://www.equator-network.org/
Journal – Indexed or not ?
 “Scientific quality” of article
 Scientific review process by a trusted/reputed
indexer/institution
 “Index Medicus” from 1879 onwards
 Other – MedLine, Pubmed, EMBASE, SCOPUS, EBSCO,
SCIRUS......
SCOPUS indexed journal
Critical analysis
a. Journal indexed /
b. Year 
c. Article title 
d. Authors and Correspondence 
No Objective description
2. Abstract (summary) (1)
 Why? Quick way of knowing the article.
 Aims & Objective, Intervention, Methodology, Results,
Conclusions.
 Informative and “balanced summary of what was done
and what was found”
 “never contain data not included in manuscript”
https://www.equator-network.org/
a. AIM
b. Materials & Methods
c. Results
d. Conclusions
Inclusion/exclusion ??
Severity score /grade ??
Secondary objective ??
??
Critical analysis
a. Intelligible 
b. Aims & Objectives 
c. Methodology /
d. Results /
e. Other data present 
f. Conclusion clearly answer QOI 
No criteria, no scoring
No secondary objective
3. Introduction and
Background (2&3)
 Good background information with
adequate references
a. Clinical importance of condition
b. Limitations of available knowledge
c. Why this study relevant ?
d. How this will changes previous concept ?
Critical analysis
a. Good background information 
b. Clinical importance 
c. Limitation of current information 
d. Why this study relevant 
e. How this will change the previous concept 
https://www.equator-network.org/
4. Materials and Methods (4-12)
 Precise information  (4) Study design and Methodology
(5) Study settings & Location
(6) Population (PICOT)
(7) Variables
(8) Interventions (if used) & source &
tools of measurements (if used)
(9) Bias
(10) Sample size and calculations
(12) Statistical analysis used, CI, p value
confounding and missing data
Limitations of methodology
?
Outcome ?
Critical analysis
 Study design and Methodology 
 Population (PICOT) 
 Study settings & Location 
 Inclusion and exclusion criteria  ( not clearly defined )
 Sample size and calculations  (not done )
 Interventions (if used) & source 
 Tools of measurements (if used) / (severity of CL/CP)
 Statistical analysis used, CI, p value / ( comparison group+)
 Confounding and missing data 
 Limitations of methodology 
5. Result (13-17)
 Whether the Aims and Objectives covered/not?
 (13) In depth description of study population with descriptive and
analytical results done/not?
 (14) Descriptive data: Tables/Diagrams/Charts/Graphs used ?
 (16)What are the main results, are they statistically significant &
valid ?
 (17) Other analysis done in subgroups https://www.equator-network.org/

Primary
Secondary 12/24/170/5902
24/170
24/5902
Other analysis
Associations
9/24
5/11/24/170/5902
Outcome of management ?
Follow up ?
Correction score ? PWSS ?
Immediate events
Critical analysis
Demographic 
1◦ objective  (prevalence & characteristics)
2◦ objective  (severity? and outcome ?)
Statistical analysis 
Tables/chart/diagrams 
Self explanatory 
Descriptive data 
Analytical data 
Other analysis  ( Syndromes, Association, Genetics )
6. Discussion (18-21)
 Absolute comparison between published literature Vs
newly established result.
 Whether objectives of study met/not?
 If not: any explanations?
 Statistically significant results are clinically applicable?
 Limitations & Bias
 Recommendations for further studies ?
Validate the present study
Associations established
https://www.equator-network.org/
Primary objective
21 years
Scoring ?
Why delayed ?
5/11/24/170
3/24
22% Vs 67%
<50% (11/24)
? Secondary objective
? Outcome
? Success
? Follow up
? Scoring / Scale PWSS
9/24
1/24
1/24
? Severity assessment
? Follow up
? Outcome of Mx
Critical analysis
Absolute comparison 
Objectives of study /
Statistical analysis 
Generalizability 
Bias 
Limitations 
New associations 
Further studies 
Secondary objective
7. Funding and COI (22)
 Source of funding ?
 Role of funders in present study ?
 Any COI: Author, Authorship, Research, Funder,
Publisher.
https://www.equator-network.org/



Other information
Summary
 Overview: article title add key objectives
 Abstract: secondary objective and conclusion
 Introduction & Background: clinical importance of ED and relevance
of study
 Materials & Methods: inclusion/exclusion criteria, severity scoring,
sample size calculation, statistical analysis, limitations, bias
 Results: Outcome of 2◦ objective
 Discussion: statistical analysis, bias, generalizability, future studies
Dr Ebin Roshan Paul
Severe
Tp 63 gene
 3q28  p63 protein ( TF )  gene regulation
 Structural homology p53
 15 exons and many isoforms
 various region and type of mutation  GOF, abnormal
p63, altered ability to “turn on/off” target gene.
P 40
P51
P63
p73L
 AD trait
 Various syndromes 
EEC 3
AEC/RHS
LMS
ADULT
SHFM
OF cleft 8
EEC 3 syndrome
 9/24 article cases
 AD variability and penetrance
 Limbs: “lobster claw”
 Ectodermal: sparse hair, peg teeth, dysplastic nails, scaly skin
 Exocrine: hypohidrosis
 IQ normal
AEC syndrome / RHS
 Ankyloblepheron- Ectodermal defect- Cleft lip/palate
 1/24 article cases
 Extra features: Skin erosions scalp
“Ankyloblepheron filiforme adnatum”
AEC and RHS are allelic disorders
ADULT syndrome
 Acro Dermato Ungual Lacrimal Tooth syndrome
 AD trait
 Tp 63 gene
 EEC features ( without clefting) + Dermatological
(freckling, xerosis) + Lacrimal (NL duct obstruction) +
Teeth (hypodontia)
Limb mammary syndrome
 Tp63 exon 13 and 14
 Limb defect + “Hypo/aplasia of breast and nipple”
 ED – teeth and nail +/- cleft lip/palate
Focal Dermal Hypoplasia (FDH)
 XLD, 1/24 article cases
 PORCN gene (Xp11.23)  WNT proteins not released
 90% females
 Skin: Cutis aplasia, fat nodules, papillomas, telengiectasia.
 Abnormal dentition, sparse hair, dysplastic nails, limb defects, eye
anomalies
Blepharocheilodontic syndrome
BCDS
 AD trait
 3/24 article cases
 CDH1 gene (I) and CTNND1 gene (II) associated with E
cadherin and p120-catenin
 Craniofacial development and Ectodermal structures
 Blepharo – ectropion, euryblepharon, lagopthalmia,
distichiasis.
 Cheilo- cleft lip/palate
 Dontic- oligodontia, cone shaped teeth
 Others: flat face, high forehead, hair and nail changes,
syndactyly, clinodactyly.
Critical Analysis Journal club  how to do as a beginner
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Critical Analysis Journal club how to do as a beginner

  • 1. Dr Ebin Roshan Paul Assistant Professor & Clinical Geneticist PK DAS Institute of Medical Sciences, Ottapalam, Kerala
  • 2.  Journal club : an educational meeting where an article is read, evaluated and discussed.  Meeting where “critical analysis” of research journal done
  • 3. Critical analysis  Critical analysis: “systematic process” through which the strength and weakness of a study revealed.  “putting the research in to practice”
  • 4. Why we need critical analysis ?  Common misconceptions about research articles  1) article published in a scientific journal is always correct  2) presence of “paid journals” in scientific community
  • 5. Critical analysis  Not based on negative intentions.  quality of the study  based pre specified set of criteria  whether the findings are trustworthy and useful  balanced: alternative suggestions provided to strengthen and avoid weakness
  • 6.
  • 7. Types of study Epidemiology (Greek word) Epi: on Demos: population Logos: study
  • 8.
  • 9. Guidelines for reporting studies  CONSORT : RCT  PRISMA: Systematic reviews and Meta analysis  STROBE: Observational studies (Descriptive)  Based on EQUATOR recommendations
  • 10. EQUATOR Network  Enhancing the Quality and Transparency Of health Research.  international initiative that aims to improve the quality of research publications.  provides a comprehensive list of reporting guidelines https://www.equator-network.org/
  • 11.
  • 12. STROBE checklist  Strengthening The Reporting of OBservational studies in Epidemiology.  22 item checklist  18 items are common - Cohort, CC and CS study  6/12/14/15 varies with each design. https://www.equator-network.org/
  • 13.
  • 14. Our article for critical analysis
  • 15. 1. Overview of paper  Journal and Year  Article Title – key objectives  Authors and Institution  Corresponding author https://www.equator-network.org/
  • 16. Journal – Indexed or not ?  “Scientific quality” of article  Scientific review process by a trusted/reputed indexer/institution  “Index Medicus” from 1879 onwards  Other – MedLine, Pubmed, EMBASE, SCOPUS, EBSCO, SCIRUS......
  • 17.
  • 19. Critical analysis a. Journal indexed / b. Year  c. Article title  d. Authors and Correspondence  No Objective description
  • 20. 2. Abstract (summary) (1)  Why? Quick way of knowing the article.  Aims & Objective, Intervention, Methodology, Results, Conclusions.  Informative and “balanced summary of what was done and what was found”  “never contain data not included in manuscript” https://www.equator-network.org/
  • 21. a. AIM b. Materials & Methods c. Results d. Conclusions
  • 22. Inclusion/exclusion ?? Severity score /grade ?? Secondary objective ?? ??
  • 23. Critical analysis a. Intelligible  b. Aims & Objectives  c. Methodology / d. Results / e. Other data present  f. Conclusion clearly answer QOI  No criteria, no scoring No secondary objective
  • 24. 3. Introduction and Background (2&3)  Good background information with adequate references a. Clinical importance of condition b. Limitations of available knowledge c. Why this study relevant ? d. How this will changes previous concept ?
  • 25.
  • 26. Critical analysis a. Good background information  b. Clinical importance  c. Limitation of current information  d. Why this study relevant  e. How this will change the previous concept  https://www.equator-network.org/
  • 27.
  • 28. 4. Materials and Methods (4-12)  Precise information  (4) Study design and Methodology (5) Study settings & Location (6) Population (PICOT) (7) Variables (8) Interventions (if used) & source & tools of measurements (if used) (9) Bias (10) Sample size and calculations (12) Statistical analysis used, CI, p value confounding and missing data Limitations of methodology
  • 30. Critical analysis  Study design and Methodology   Population (PICOT)   Study settings & Location   Inclusion and exclusion criteria  ( not clearly defined )  Sample size and calculations  (not done )  Interventions (if used) & source   Tools of measurements (if used) / (severity of CL/CP)  Statistical analysis used, CI, p value / ( comparison group+)  Confounding and missing data   Limitations of methodology 
  • 31. 5. Result (13-17)  Whether the Aims and Objectives covered/not?  (13) In depth description of study population with descriptive and analytical results done/not?  (14) Descriptive data: Tables/Diagrams/Charts/Graphs used ?  (16)What are the main results, are they statistically significant & valid ?  (17) Other analysis done in subgroups https://www.equator-network.org/
  • 33. Outcome of management ? Follow up ? Correction score ? PWSS ? Immediate events
  • 34. Critical analysis Demographic  1◦ objective  (prevalence & characteristics) 2◦ objective  (severity? and outcome ?) Statistical analysis  Tables/chart/diagrams  Self explanatory  Descriptive data  Analytical data  Other analysis  ( Syndromes, Association, Genetics )
  • 35. 6. Discussion (18-21)  Absolute comparison between published literature Vs newly established result.  Whether objectives of study met/not?  If not: any explanations?  Statistically significant results are clinically applicable?  Limitations & Bias  Recommendations for further studies ? Validate the present study Associations established https://www.equator-network.org/
  • 36. Primary objective 21 years Scoring ? Why delayed ? 5/11/24/170 3/24 22% Vs 67%
  • 37. <50% (11/24) ? Secondary objective ? Outcome ? Success ? Follow up ? Scoring / Scale PWSS 9/24 1/24 1/24
  • 38. ? Severity assessment ? Follow up ? Outcome of Mx
  • 39. Critical analysis Absolute comparison  Objectives of study / Statistical analysis  Generalizability  Bias  Limitations  New associations  Further studies  Secondary objective
  • 40. 7. Funding and COI (22)  Source of funding ?  Role of funders in present study ?  Any COI: Author, Authorship, Research, Funder, Publisher. https://www.equator-network.org/
  • 42. Summary  Overview: article title add key objectives  Abstract: secondary objective and conclusion  Introduction & Background: clinical importance of ED and relevance of study  Materials & Methods: inclusion/exclusion criteria, severity scoring, sample size calculation, statistical analysis, limitations, bias  Results: Outcome of 2◦ objective  Discussion: statistical analysis, bias, generalizability, future studies
  • 43.
  • 45.
  • 47.
  • 48. Tp 63 gene  3q28  p63 protein ( TF )  gene regulation  Structural homology p53  15 exons and many isoforms  various region and type of mutation  GOF, abnormal p63, altered ability to “turn on/off” target gene. P 40 P51 P63 p73L
  • 49.
  • 50.  AD trait  Various syndromes  EEC 3 AEC/RHS LMS ADULT SHFM OF cleft 8
  • 51.
  • 52.
  • 53. EEC 3 syndrome  9/24 article cases  AD variability and penetrance  Limbs: “lobster claw”  Ectodermal: sparse hair, peg teeth, dysplastic nails, scaly skin  Exocrine: hypohidrosis  IQ normal
  • 54.
  • 55. AEC syndrome / RHS  Ankyloblepheron- Ectodermal defect- Cleft lip/palate  1/24 article cases  Extra features: Skin erosions scalp “Ankyloblepheron filiforme adnatum” AEC and RHS are allelic disorders
  • 56.
  • 57. ADULT syndrome  Acro Dermato Ungual Lacrimal Tooth syndrome  AD trait  Tp 63 gene
  • 58.  EEC features ( without clefting) + Dermatological (freckling, xerosis) + Lacrimal (NL duct obstruction) + Teeth (hypodontia)
  • 59. Limb mammary syndrome  Tp63 exon 13 and 14  Limb defect + “Hypo/aplasia of breast and nipple”  ED – teeth and nail +/- cleft lip/palate
  • 60. Focal Dermal Hypoplasia (FDH)  XLD, 1/24 article cases  PORCN gene (Xp11.23)  WNT proteins not released  90% females  Skin: Cutis aplasia, fat nodules, papillomas, telengiectasia.  Abnormal dentition, sparse hair, dysplastic nails, limb defects, eye anomalies
  • 61.
  • 62. Blepharocheilodontic syndrome BCDS  AD trait  3/24 article cases  CDH1 gene (I) and CTNND1 gene (II) associated with E cadherin and p120-catenin  Craniofacial development and Ectodermal structures
  • 63.  Blepharo – ectropion, euryblepharon, lagopthalmia, distichiasis.  Cheilo- cleft lip/palate  Dontic- oligodontia, cone shaped teeth  Others: flat face, high forehead, hair and nail changes, syndactyly, clinodactyly.