1
40
3
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Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
September 2019 List
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
September 2019 List
URL Address
<a href="http://doi.org/10.1136/archdischild-2017-314256" target="_blank" rel="noreferrer noopener">http://doi.org/10.1136/archdischild-2017-314256</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Infant deaths from congenital anomalies: novel use of Child Death Overview Panel data
Publisher
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Archives of Disease in Childhood
Date
A point or period of time associated with an event in the lifecycle of the resource
2018
Subject
The topic of the resource
Female; Infant; Male; Humans; Retrospective Studies; Newborn; congenital anomaly; ethnicity; Infant Death; infant mortality; Cause of Death; Congenital Abnormalities/mortality; Consanguinity; Death Certificates; Disabled Children; England/epidemiology; Ethnic Groups/statistics & numerical data; Infant Mortality/ethnology; Maternal Age
Creator
An entity primarily responsible for making the resource
Firth C; Petherick E; Oddie SJ
Description
An account of the resource
OBJECTIVE: We aimed to assess Child Death Overview Panel (CDOP) data validity, and cause of death classification, by comparison with information from a local birth cohort study (Born in Bradford, BiB), and another cause of death coding system (causes of death and associated conditions-CODAC). We then aimed to use CDOP data to calculate ethnic-specific infant mortality rates (IMRs), and compare characteristics of infants who died of congenital anomalies (CA) with those who died from other causes (non-CA). DESIGN: Retrospective cohort study. SETTING: Bradford Metropolitan District. PATIENTS: All infant deaths, 2008 to 2013. MAIN OUTCOME MEASURES: Infant mortality rates from CA and non-CA causes. RESULTS: 315 infant deaths were included, 56 of whom were BiB recruits. Agreement between CDOP and BiB was moderate to perfect for all characteristics except ethnicity, which showed weak agreement (kappa=0.58). The same deaths (27/56) were classified as CA by CDOP and CODAC. IMRs (per 1000 live births, 2009-2013) were highest in Pakistani infants (all causes 9.8, CA cause 5.5) compared with white British (all causes 4.3, CA cause 1.3) and other infants (all causes 5.1, CA cause 1.4). In multivariate analysis, infants who died of CA cause were more likely to have been born at term (OR 3.18) and to consanguineous parents (OR 3.28) than infants who died of non-CA cause. CONCLUSIONS: Excess Pakistani mortality appears to be partly explained by an excess of deaths from CA, which in this population appears associated with a greater prevalence of consanguinity.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1136/archdischild-2017-314256" target="_blank" rel="noreferrer noopener">10.1136/archdischild-2017-314256</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2018
Archives of Disease in Childhood
Cause Of Death
Congenital Abnormalities/mortality
congenital anomaly
Consanguinity
Death Certificates
Disabled Children
England/epidemiology
Ethnic Groups/statistics & numerical data
Ethnicity
Female
Firth C
Humans
Infant
Infant Death
Infant Mortality
Infant Mortality/ethnology
Male
Maternal Age
Newborn
Oddie SJ
Petherick E
Retrospective Studies
September 2019 List
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/ana.10631" target="_blank" rel="noreferrer">http://doi.org/10.1002/ana.10631</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes
Publisher
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Annals Of Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Child; Female; Humans; infant; Male; Treatment Outcome; Longitudinal Studies; Magnetic Resonance Imaging; Preschool; infant; Q3 Literature Search; Newborn; Age of Onset; Pedigree; Aromatic-L-Amino-Acid Decarboxylases/cerebrospinal fluid/deficiency/genetics; Autonomic Nervous System Diseases/genetics/physiopathology; Consanguinity; Hemodynamics/physiology; Movement Disorders/genetics/physiopathology; Nervous System Diseases/cerebrospinal fluid/genetics/physiopathology; Nitroprusside/diagnostic use; Vasodilator Agents/diagnostic use
Creator
An entity primarily responsible for making the resource
Swoboda KJ; Saul JP; McKenna CE; Speller NB; Hyland K
Description
An account of the resource
In this paper, we provide a brief update of diagnostic considerations and biochemical phenotype in L-amino acid decarboxylase deficiency. We review clinical features and outcome data in 11 affected patients, including 7 previously unreported cases. All had onset of the characteristic movement disorder by 6 months of age. The phenomenology of the movement disorder is identical to that previously reported, and includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement in all patients. Autonomic dysfunction is characterized by a significant impairment of sympathetic regulation of heart rate and blood pressure, as documented via detailed studies with spectral analysis techniques in two patients. Functional clinical outcomes as a group remain poor, in spite of a variety of attempted treatment interventions, with marked impairment in motor abilities as well as in speech and communication; however, outcome was quite variable from patient to patient and covered a broad spectrum of neurological disability. Much further work remains to identify and refine the best treatment options for patients with L-amino acid decarboxylase deficiency.
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ana.10631" target="_blank" rel="noreferrer">10.1002/ana.10631</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2003
Age of Onset
Annals Of Neurology
Aromatic-L-Amino-Acid Decarboxylases/cerebrospinal fluid/deficiency/genetics
Autonomic Nervous System Diseases/genetics/physiopathology
Backlog
Child
Consanguinity
Female
Hemodynamics/physiology
Humans
Hyland K
Infant
Journal Article
Longitudinal Studies
Magnetic Resonance Imaging
Male
McKenna CE
Movement Disorders/genetics/physiopathology
Nervous System Diseases/cerebrospinal fluid/genetics/physiopathology
Newborn
Nitroprusside/diagnostic use
Pedigree
Preschool
Q3 Scoping Review Results
Saul JP
Speller NB
Swoboda KJ
Treatment Outcome
Vasodilator Agents/diagnostic use
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1097/00001665-200309000-00022" target="_blank" rel="noreferrer">http://doi.org/10.1097/00001665-200309000-00022</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Infantile Systemic Haylinosis
Publisher
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The Journal Of Craniofacial Surgery
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Child; Female; Humans; adolescent; Contracture/pathology; Consanguinity; Collagen Diseases/metabolism/pathology; Fibromatosis; Gingival/pathology/surgery; Hyalin/metabolism; Skin Diseases/metabolism/pathology/surgery
Creator
An entity primarily responsible for making the resource
Al-Najjadah I; Bang RL; Ghoneim IE; Kanjoor JR
Description
An account of the resource
Infantile systemic hyalinosis (ISH) is a rare familial autosomal recessive disease of unknown etiology. The clinical features are evident either at birth or within 6 months of life. The presentation is painful progressive joint contractures, thickened skin with hyperpigmentation over prominences, small pearly facial papules, gingival hypertrophy, fleshy nodules in the perianal region, diarrhea, increased susceptibility to bone fractures, infections, and failure to thrive. This is a progressive disorder that may lead to death within first 2 years of life, mostly due to recurrent chest infection and diarrhea. Two patients with ISH, one aged 14 years and another aged 10 years, with all the clinical features, though crippled but surviving, were seen at our center. Debulking of hypertrophic gingiva and excision of some symptomatic skin masses in these patients are indicated for comfort and smooth nursing care of the patients and to allow better rehabilitation.
2003
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1097/00001665-200309000-00022" target="_blank" rel="noreferrer">10.1097/00001665-200309000-00022</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2003
Adolescent
Al-Najjadah I
Backlog
Bang RL
Child
Collagen Diseases/metabolism/pathology
Consanguinity
Contracture/pathology
Female
Fibromatosis
Ghoneim IE
Gingival/pathology/surgery
Humans
Hyalin/metabolism
Journal Article
Kanjoor JR
Skin Diseases/metabolism/pathology/surgery
The Journal Of Craniofacial Surgery