Reviewer's report
Title:Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency: Prevalence
and SLC25A13 mutations among Thai Infants
Version: 1Date:14 September 2012
Reviewer: Osamu Sakamoto
Reviewer's report:
This article reported that the mutation spectrum of SLC25A13 in Thai NICCD,
comparison of clinical manifestations and blood chemistry between NICCD and
non-NICCD infants, and the prevalence of NICCD in Thai infants with idiopathic
cholestasis.
Mutation analysis was performed appropriately. The 851del4 mutation is most
common among patients of NICCD in Thai like as other Asian countries. And the
comparison of clinical manifestations and blood chemistry between NICCD and
non-NICCD infants was sensible.
Major Compulsory Revisions
1. As the authors said, there were limitations of the present study, especially,
using the panethnic incidence of infantile cholestasis for the estimation of the
prevalence of NICCD among Thai infants. Furthermore, because not all infants
with pathogenic SLC25A13 mutations on both alleles manifest NICCD
symptoms, the carrier frequency calculated based on the symptomatic patients
may be underestimated. So the carrier frequency should be obtained by the
mutation analysis of control subjects.
2. The authors showed p.M1T was found 3 among 100. That means the carrier
frequency is 3/100 (if p.M1T is pathogenic). The authors should comment the
discrepancy between the carrier frequency (1/110) by reverse calculation based
on Hardy-Weinberg equation and the other one (3/100) by population analysis.
Minor Essential Revisions
3. (Page 9, lines 14-16) Coagulopathy, galactosuria and hypoglycemia were
remarkable observed among NICCD patients but not in the suspected NICCD
infants.
Is the sentence `suspected NICCD’right? (non-NICCD ?)
4. (Table1) `p.R605Q5?’is wrong. (p.R605Q).
Level of interest: An article whose findings are important to those with closely
related research interests
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
I declare that I have no competing interests.
Reviewer's report
Title:Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency: Prevalence
and SLC25A13 mutations among Thai Infants
Version: 1Date:14 September 2012
Reviewer: Osamu Sakamoto
Reviewer's report:
This article reported that the mutation spectrum of SLC25A13 in Thai NICCD,
comparison of clinical manifestations and blood chemistry between NICCD and
non-NICCD infants, and the prevalence of NICCD in Thai infants with idiopathic
cholestasis.
Mutation analysis was performed appropriately. The 851del4 mutation is most
common among patients of NICCD in Thai like as other Asian countries. And the
comparison of clinical manifestations and blood chemistry between NICCD and
non-NICCD infants was sensible.
Major Compulsory Revisions
1. As the authors said, there were limitations of the present study, especially,
using the panethnic incidence of infantile cholestasis for the estimation of the
prevalence of NICCD among Thai infants. Furthermore, because not all infants
with pathogenic SLC25A13 mutations on both alleles manifest NICCD
symptoms, the carrier frequency calculated based on the symptomatic patients
may be underestimated. So the carrier frequency should be obtained by the
mutation analysis of control subjects.
2. The authors showed p.M1T was found 3 among 100. That means the carrier
frequency is 3/100 (if p.M1T is pathogenic). The authors should comment the
discrepancy between the carrier frequency (1/110) by reverse calculation based
on Hardy-Weinberg equation and the other one (3/100) by population analysis.
Minor Essential Revisions
3. (Page 9, lines 14-16) Coagulopathy, galactosuria and hypoglycemia were
remarkable observed among NICCD patients but not in the suspected NICCD
infants.
Is the sentence `suspected NICCD’right? (non-NICCD ?)
4. (Table1) `p.R605Q5?’is wrong. (p.R605Q).
Level of interest: An article whose findings are important to those with closely
related research interests
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
I declare that I have no competing interests.
Please review this paper.
user
Reviewer's report
Title:Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency: Prevalence
and SLC25A13 mutations among Thai Infants
Version: 1Date:14 September 2012
Reviewer: Osamu Sakamoto
Reviewer's report:
This article reported that the mutation spectrum of SLC25A13 in Thai NICCD,
comparison of clinical manifestations and blood chemistry between NICCD and
non-NICCD infants, and the prevalence of NICCD in Thai infants with idiopathic
cholestasis.
Mutation analysis was performed appropriately. The 851del4 mutation is most
common among patients of NICCD in Thai like as other Asian countries. And the
comparison of clinical manifestations and blood chemistry between NICCD and
non-NICCD infants was sensible.
Major Compulsory Revisions
1. As the authors said, there were limitations of the present study, especially,
using the panethnic incidence of infantile cholestasis for the estimation of the
prevalence of NICCD among Thai infants. Furthermore, because not all infants
with pathogenic SLC25A13 mutations on both alleles manifest NICCD
symptoms, the carrier frequency calculated based on the symptomatic patients
may be underestimated. So the carrier frequency should be obtained by the
mutation analysis of control subjects.
2. The authors showed p.M1T was found 3 among 100. That means the carrier
frequency is 3/100 (if p.M1T is pathogenic). The authors should comment the
discrepancy between the carrier frequency (1/110) by reverse calculation based
on Hardy-Weinberg equation and the other one (3/100) by population analysis.
Minor Essential Revisions
3. (Page 9, lines 14-16) Coagulopathy, galactosuria and hypoglycemia were
remarkable observed among NICCD patients but not in the suspected NICCD
infants.
Is the sentence `suspected NICCD’right? (non-NICCD ?)
4. (Table1) `p.R605Q5?’is wrong. (p.R605Q).
Level of interest: An article whose findings are important to those with closely
related research interests
Quality of written English: Acceptable
Statistical review: No, the manuscript does not need to be seen by a
statistician.
Declaration of competing interests:
I declare that I have no competing interests.
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