Reviewer's report
Title:Quantitative pedigree analysis and mitochondrial DNA sequence variants in
adults with cyclic vomiting syndrome.
Version:2Date:15 April 2014
Reviewer: Robert Issenman
Reviewer's report:
This paper reports the results of Quantitative Pedigree Analysis (QPA) in 195
patients who were genotyped using Restriction Fragment Length Polymorphism
(RFLP) or sequencing. The authors were able to show that there was stronger
maternal inheritance for some of symptoms. Unlike previously reported findings
in a pediatric population they were unable to show that there was a difference in
the prevalence of mitochondrial SNP’s 16519 T, 3010A and the AT genotype in
Haplogroup H CVS patients compared to historical controls.
The value of this largely negative study is that it suggests dissimilarity between
adult and pediatric patients presenting with similar complaint of episodic bouts of
severe debilitating nausea and vomiting.Previous publications have suggested
that most pediatric patients tend to become symptomatic at about age 5 with
resolution by age 12 in the majority. A minority have established mitochondrial
cytopathy or other identifiable metabolic diseases. Though certain mitochondrial
sequences occur more frequently about 80% seem to have symptoms which
become recognizable as migraine. Many respond to anti-migraine therapy.
By contrast the adult cohort described in this report have onset in late
adolescence or early adult life. Those develop these symptoms in association
with cannabis exposure are thought to suffer from up-regulation of canneboid
receptors. In other, there is a high prevalence of anxiety and other psychological
morbidities. Far fewer respond to therapies which work for migraine patients.
While disappointing, these results help further delineate subgroups with common
symptoms across the age spectrum which ultimate aids in targeting the most
effective interventions for different sub-groups.
No particular major or minor revisions are suggested. (This reviewer does not
have the expertise to evaluate the validity of the equation used to determine the
described maternal inheritance ratio).
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: Yes, but I do not feel adequately qualified to assess the
statistics.
Declaration of competing interests:
I declare that I have no competing interests
Reviewer's report
Title:Quantitative pedigree analysis and mitochondrial DNA sequence variants in
adults with cyclic vomiting syndrome.
Version:2Date:15 April 2014
Reviewer: Robert Issenman
Reviewer's report:
This paper reports the results of Quantitative Pedigree Analysis (QPA) in 195
patients who were genotyped using Restriction Fragment Length Polymorphism
(RFLP) or sequencing. The authors were able to show that there was stronger
maternal inheritance for some of symptoms. Unlike previously reported findings
in a pediatric population they were unable to show that there was a difference in
the prevalence of mitochondrial SNP’s 16519 T, 3010A and the AT genotype in
Haplogroup H CVS patients compared to historical controls.
The value of this largely negative study is that it suggests dissimilarity between
adult and pediatric patients presenting with similar complaint of episodic bouts of
severe debilitating nausea and vomiting.Previous publications have suggested
that most pediatric patients tend to become symptomatic at about age 5 with
resolution by age 12 in the majority. A minority have established mitochondrial
cytopathy or other identifiable metabolic diseases. Though certain mitochondrial
sequences occur more frequently about 80% seem to have symptoms which
become recognizable as migraine. Many respond to anti-migraine therapy.
By contrast the adult cohort described in this report have onset in late
adolescence or early adult life. Those develop these symptoms in association
with cannabis exposure are thought to suffer from up-regulation of canneboid
receptors. In other, there is a high prevalence of anxiety and other psychological
morbidities. Far fewer respond to therapies which work for migraine patients.
While disappointing, these results help further delineate subgroups with common
symptoms across the age spectrum which ultimate aids in targeting the most
effective interventions for different sub-groups.
No particular major or minor revisions are suggested. (This reviewer does not
have the expertise to evaluate the validity of the equation used to determine the
described maternal inheritance ratio).
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: Yes, but I do not feel adequately qualified to assess the
statistics.
Declaration of competing interests:
I declare that I have no competing interests
Please review this paper.
user
Reviewer's report
Title:Quantitative pedigree analysis and mitochondrial DNA sequence variants in
adults with cyclic vomiting syndrome.
Version:2Date:15 April 2014
Reviewer: Robert Issenman
Reviewer's report:
This paper reports the results of Quantitative Pedigree Analysis (QPA) in 195
patients who were genotyped using Restriction Fragment Length Polymorphism
(RFLP) or sequencing. The authors were able to show that there was stronger
maternal inheritance for some of symptoms. Unlike previously reported findings
in a pediatric population they were unable to show that there was a difference in
the prevalence of mitochondrial SNP’s 16519 T, 3010A and the AT genotype in
Haplogroup H CVS patients compared to historical controls.
The value of this largely negative study is that it suggests dissimilarity between
adult and pediatric patients presenting with similar complaint of episodic bouts of
severe debilitating nausea and vomiting.Previous publications have suggested
that most pediatric patients tend to become symptomatic at about age 5 with
resolution by age 12 in the majority. A minority have established mitochondrial
cytopathy or other identifiable metabolic diseases. Though certain mitochondrial
sequences occur more frequently about 80% seem to have symptoms which
become recognizable as migraine. Many respond to anti-migraine therapy.
By contrast the adult cohort described in this report have onset in late
adolescence or early adult life. Those develop these symptoms in association
with cannabis exposure are thought to suffer from up-regulation of canneboid
receptors. In other, there is a high prevalence of anxiety and other psychological
morbidities. Far fewer respond to therapies which work for migraine patients.
While disappointing, these results help further delineate subgroups with common
symptoms across the age spectrum which ultimate aids in targeting the most
effective interventions for different sub-groups.
No particular major or minor revisions are suggested. (This reviewer does not
have the expertise to evaluate the validity of the equation used to determine the
described maternal inheritance ratio).
Level of interest: An article of importance in its field
Quality of written English: Acceptable
Statistical review: Yes, but I do not feel adequately qualified to assess the
statistics.
Declaration of competing interests:
I declare that I have no competing interests
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