1
40
11
-
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/ajmg.a.36687" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.36687</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
Differences in perspective on prognosis and treatment of children with trisomy 18
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2014
Creator
An entity primarily responsible for making the resource
Hurley EH; Krishnan S; Parton Lance A; Dozor AJ
Description
An account of the resource
Differences in perspective between physicians caring for children with trisomy 18 may be confusing and stressful for parents. The hypothesis of this study was that neonatologists and pediatric pulmonologists differ in their opinions regarding long-term prognosis and recommended interventions. Neonatologists and pediatric pulmonologists in New York State were surveyed. Respondents were asked to report their personal experience caring for affected children, opinions on prognosis, major influences on their opinions, and their likelihood of recommending specific medical or surgical interventions for two clinical vignettes. A total of 393 surveys were mailed, 327 to neonatologists and 66 to pediatric pulmonologists. Sixty-six (20%) neonatologists and 21 (32%) pediatric pulmonologists completed the survey. Neonatologists had cared for more patients with trisomy 18. Twenty-nine percent of pediatric pulmonologists had never cared for a patient with trisomy 18 compared to 2% of neonatologists, P < 0.001. Pediatric pulmonologists were more likely to recommend almost all interventions including antibiotics for pneumonia, mechanical ventilation, cardiac and orthopedic surgery, and "full code resuscitation." Neonatologists were more likely to recommend comfort care only or palliative care. Fifty-four percent of neonatologists and 5% of pediatric pulmonologists thought patients with trisomy 18 without significant congenital heart disease would die before age one despite aggressive medical care, P < 0.001. The major influences impacting these recommendations also varied. Pediatric pulmonologists are more optimistic about the prognosis for children than neonatologists and more likely to recommend medical and surgical interventions. Experience with the condition and perception of survivability may contribute to these differences in approach. © 2014 Wiley Periodicals, Inc.
2014-10
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.36687" target="_blank" rel="noreferrer">10.1002/ajmg.a.36687</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
2014
American Journal Of Medical Genetics.Part A
Backlog
Dozor AJ
Hurley EH
Journal Article
Krishnan S
Parton Lance A
-
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/ajmg.a.36298" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.36298</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
Our children are not a diagnosis: The experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2013
Creator
An entity primarily responsible for making the resource
Guon J; Wilfond BS; Farlow B; Brazg T; Janvier A
Description
An account of the resource
Trisomy 13 and trisomy 18 (T13-18) are associated with high rates of perinatal death and with severe disability among survivors. Prenatal diagnosis (PND) may lead many women to terminate their pregnancy but some women choose to continue their pregnancy. We sent 503 invitations to answer a questionnaire to parents who belong to T13 and 18 internet support groups. Using mixed methods, we asked parents about their prenatal experience, their hopes, the life of their affected child, and their family experience. 332 parents answered questions about 272 children; 128 experienced PND. These parents, despite feeling pressure to terminate (61%) and being told that their baby would likely die before birth (94%), chose to continue the pregnancy. Their reasons included: moral beliefs (68%), child-centered reasons (64%), religious beliefs (48%), parent-centered reasons (28%), and practical reasons (6%). At the time of the diagnosis, most of these parents (80%) hoped to meet their child alive. By the time of birth, 25% chose a plan of full interventions. A choice of interventions at birth was associated with fewer major anomalies (P < 0.05). Parents describe "Special" healthcare providers as those who gave balanced and personalized information, respected their choice, and provided support. Parents make decisions to continue a pregnancy and choose a plan of care for their child according to their beliefs and their child's specific medical condition, respectively. Insights from parents' perspective can better enable healthcare providers to counsel and support families. © 2013 Wiley Periodicals, Inc.
2013-12
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.36298" target="_blank" rel="noreferrer">10.1002/ajmg.a.36298</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
2013
American Journal Of Medical Genetics.Part A
Backlog
Brazg T
Farlow B
Guon J
Janvier A
Journal Article
Wilfond BS
-
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/ajmg.a.31841" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.31841</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
Progressive cerebral vascular degeneration with mitochondrial encephalopathy
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Child; Female; Humans; Cerebrovascular Circulation; Q3 Literature Search; Acyl-CoA Dehydrogenase/deficiency/genetics; Brain/blood supply/physiopathology; Leu/genetics; Magnetic Resonance Angiography; MELAS Syndrome/ge [Genetics]; Point Mutation; RNA; Transfer
Creator
An entity primarily responsible for making the resource
Longo N; Schrijver I; Vogel H; Pique LM; Cowan TM; Pasquali M; Steinberg GK; Hedlund GL; Ernst SL; Gallagher RC; Enns GM
Description
An account of the resource
MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a maternally inherited disorder characterized by recurrent cerebral infarctions that do not conform to discreet vascular territories. Here we report on a patient who presented at 7 years of age with loss of consciousness and severe metabolic acidosis following vomiting and dehydration. She developed progressive sensorineural hearing loss, myopathy, ptosis, short stature, and mild developmental delays after normal early development. Biochemical testing identified metabolites characteristic of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (hexanoylglycine and suberylglycine), but also severe lactic acidemia (10-25 mM) and, in urine, excess of lactic acid, intermediates of the citric cycle, and marked ketonuria, suggesting mitochondrial dysfunction. She progressed rapidly to develop temporary cortical blindness. Brain imaging indicated generalized atrophy, more marked on the left side, in addition to white matter alterations consistent with a mitochondrial disorder. Magnetic resonance angiography indicated occlusion of the left cerebral artery with development of collateral circulation (Moyamoya syndrome). This process worsened over time to involve the other side of the brain. A muscle biopsy indicated the presence of numerous ragged red fibers. Molecular testing confirmed compound heterozygosity for the common mutation in the MCAD gene (985A>G) and a second pathogenic mutation (233T>C). MtDNA testing indicated that the muscle was almost homoplasmic for the 3243A>T mutation in tRNALeu, with a lower mutant load (about 50% heteroplasmy) in blood and skin fibroblasts. These results indicate that mitochondrial disorders may be associated with severe vascular disease resulting in Moyamoya syndrome. The contribution of the concomitant MCAD deficiency to the development of the phenotype in this case is unclear.
2008
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.31841" target="_blank" rel="noreferrer">10.1002/ajmg.a.31841</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
2008
Acyl-CoA Dehydrogenase/deficiency/genetics
American Journal Of Medical Genetics.Part A
Backlog
Brain/blood supply/physiopathology
Cerebrovascular Circulation
Child
Cowan TM
Enns GM
Ernst SL
Female
Gallagher RC
Hedlund GL
Humans
Journal Article
Leu/genetics
Longo N
Magnetic Resonance Angiography
MELAS Syndrome/ge [Genetics]
Pasquali M
Pique LM
Point Mutation
Q3 Scoping Review Results
RNA
Schrijver I
Steinberg GK
Transfer
Vogel H
-
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/ajmg.a.33050" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.33050</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
Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2009
Subject
The topic of the resource
Child; Female; Humans; Male; Family; Adult; Parents; Middle Aged; social support; Prenatal Diagnosis; Intellectual Disability; Reproducibility of Results; Perception; social support; Exploratory Behavior; Intellectual Disability/diagnosis/therapy; Parent caregivers
Creator
An entity primarily responsible for making the resource
Makela NL; Birch PH; Friedman JM; Marra CA
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.33050" target="_blank" rel="noreferrer">10.1002/ajmg.a.33050</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
Description
An account of the resource
Although new technologies such as array genomic hybridization to diagnosis the cause of intellectual disabilities (ID) are exciting to clinicians, the value of an etiological diagnosis to the families of affected children is largely unknown. Parents of 20 children with ID, 10 with and 10 without a causal or an etiological diagnosis were interviewed in depth about the value they place on such a diagnosis. They were asked about experiences acquiring services, use of support groups, interactions with family and friends, and opinions on prenatal diagnosis. Parents were also asked whether their child's diagnostic status had influenced these events or affected the couple's reproductive decisions. Finally, parents were asked whether their interest regarding the importance of an etiological diagnosis had changed over time. Interview transcripts were analyzed to determine values parents place on etiological diagnoses and comparisons were made between the two groups. These parents felt the need for a diagnosis most intensely when developmental concerns were first noted, and most parents agreed that this intensity diminished over time. All would have preferred to have an etiological diagnosis, but for some the only reason was curiosity. Validation was the most important value attributed to a diagnosis: it offered legitimacy for the child's behavior and appearance. However, a descriptive label, such as autism, was often more useful to parents than a rare but specific etiological diagnosis. Surprisingly, between the two groups there were no differences in the parents' perceptions or experiences related to the presence or absence of an etiological diagnosis for their child's ID.
2009
Adult
American Journal Of Medical Genetics.Part A
Backlog
Birch PH
Child
Exploratory Behavior
Family
Female
Friedman JM
Humans
Intellectual Disability
Intellectual Disability/diagnosis/therapy
Journal Article
Makela NL
Male
Marra CA
Middle Aged
Parent caregivers
Parents
Perception
Prenatal Diagnosis
Reproducibility of Results
Social Support
-
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/ajmg.a.33314" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.33314</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
Linking MECP2 and pain sensitivity: the example of Rett syndrome
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2010
Subject
The topic of the resource
Child; Humans; Adult; Multivariate Analysis; adolescent; Preschool; Age Distribution; Methyl-CpG-Binding Protein 2/genetics; Mutation/genetics; Pain/complications/genetics; Rett Syndrome/complications/genetics
Creator
An entity primarily responsible for making the resource
Downs J; Geranton SM; Bebbington A; Jacoby P; Bahi-Buisson N; Ravine D; Leonard H
Description
An account of the resource
Recent animal studies suggest links between MeCP2 function and sensitivity to pain. This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations. Families enrolled in the Australian Rett Syndrome Database (ARSD) and InterRett database participated in this study. Cases with a known MECP2 pathogenic mutation, whose families had completed a questionnaire on registration and had answered questions on pain sensitivity were included (n = 646). Logistic regression was used to analyze relationships between the atypical pain responses and genotype. Descriptions of decreased pain sensitivity were content analyzed. The prevalence estimate of reporting an abnormal pain response was 75.2% and a decreased sensitivity to pain was 65.0% in the population-based ARSD. Families of ARSD and InterRett subjects with a C-terminal (OR 2.6; 95% CI 0.8-8.0), p.R168X (OR 2.1; 95% CI 0.7-6.1), or p.R306C (OR 2.7; 95% CI 0.8-9.6) mutation were more likely to report decreased sensitivity to pain. Parents and carers described decreased and delayed responses in situations judged likely to cause pain such as injections, falls, trauma, and burns. This study has provided the first precise estimate of the prevalence of abnormal sensitivity to pain in Rett syndrome but specific relationships with genotype are not yet clear. Clinical practice should include a low threshold for the clinical assessment of potential injuries in Rett syndrome.
2010
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.33314" target="_blank" rel="noreferrer">10.1002/ajmg.a.33314</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
2010
Adolescent
Adult
Age Distribution
American Journal Of Medical Genetics.Part A
Backlog
Bahi-Buisson N
Bebbington A
Child
Downs J
Geranton SM
Humans
Jacoby P
Journal Article
Leonard H
Methyl-CpG-Binding Protein 2/genetics
Multivariate Analysis
Mutation/genetics
Pain/complications/genetics
Preschool
Ravine D
Rett Syndrome/complications/genetics
-
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/ajmg.a.31173" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.31173</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
Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004.
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Child; Female; Humans; infant; Male; Survival Rate; Pregnancy; Adult; Middle Aged; Prenatal Diagnosis; Survival Analysis; Longitudinal Studies; Time Factors; Hospitals; Birth Weight; Preschool; infant; Newborn; retrospective studies; Abnormalities; Brain Diseases/ultrasonography; Child Health Services/economics/organization & administration/statistics & numerical data; Chromosomes; Congenital/ultrasonography; gestational age; Heart Defects; Human; Karyotyping; Maternal Age; Multiple/genetics/mortality/pathology; Pair 18/genetics; Paternal Age; Taiwan; Trisomy/diagnosis/genetics; Ultrasonography/methods
Creator
An entity primarily responsible for making the resource
Lin HY; Lin SP; Chen YJ; Hung HY; Kao HA; Hsu CH; Chen MR; Chang JH; Ho CS; Huang FY; Shyur SD; Lin DS; Lee HC
Description
An account of the resource
Trisomy 18 is the second most common autosomal trisomy in newborns. The birth prevalence of this disorder is approximately 1 in 3,000 to 1 in 8,000, and the life span of the majority of patients is less than 1 year. As information regarding outcome in trisomy 18 is rather fragmentary in the literature, this study is aimed at investigating the survival and natural history of trisomy 18. We also evaluated the survival age and management of trisomy 18 in two different periods, before and after the implementation of National Health Insurance (NHI) program. Thirty-nine cases of trisomy 18 were collected in Mackay Memorial Hospital in a 17-year period, from 1988 to 2004. Delivery data, survival age, management before and after the implementation of NHI program, structural defects, image findings and cytogenetic results were analyzed by medical and nurse's records. The diagnosis of trisomy 18 was based on the prenatal amniocentesis or postnatal chromosome analysis. Three patients had trisomy 18 mosaicism. Since cardiovascular and central nervous systems are the most common organ systems involved in this disorder, 31 patients received brain ultrasonography and heart ultrasonography for evaluation of their multiple anomalies after admission. All patients except one died in their first year due to severe malformations of the cardiovascular or central nervous systems. The median survival age was 6 days. We found a longer survival with female patients than with male patients (P < 0.05). Implementation of NHI program in the more recent decade of this study period was associated with longer survival of trisomy 18 (P < 0.05). The three most common structural defects were clenched hands (95%), rocker bottom feet (90%), and low set or malformed ears (90%). Low birth weight was present in 90%. By cardiac ultrasonography, the top four heart defects were ventricular septal defect (94%), patent ductus arteriosus (77%) and atrial septal defect (68%). However, ten cases (32%) had complex congenital heart defects. By brain ultrasonography, the most common brain lesion was cerebellar hypoplasia (32%), followed by brain edema (29%), enlarged cisterna magna (26%) and choroid plexus cysts (19%). Although most patients with trisomy 18 die within the first few weeks after birth, it is important to recognize that a small but notable percentage of these patients will survive the first year. When prenatal or postnatal decisions need to be made, the possibility of long-term survival should be included in any discussion to enable families to make the most appropriate decision.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.31173" target="_blank" rel="noreferrer">10.1002/ajmg.a.31173</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
2006
Abnormalities
Adult
American Journal Of Medical Genetics.Part A
Backlog
Birth Weight
Brain Diseases/ultrasonography
Chang JH
Chen MR
Chen YJ
Child
Child Health Services/economics/organization & administration/statistics & numerical data
Chromosomes
Congenital/ultrasonography
Female
Gestational Age
Heart Defects
Ho CS
Hospitals
Hsu CH
Huang FY
Human
Humans
Hung HY
Infant
Journal Article
Kao HA
Karyotyping
Lee HC
Lin DS
Lin HY
Lin SP
Longitudinal Studies
Male
Maternal Age
Middle Aged
Multiple/genetics/mortality/pathology
Newborn
Pair 18/genetics
Paternal Age
Pregnancy
Prenatal Diagnosis
Preschool
Retrospective Studies
Shyur SD
Survival Analysis
Survival Rate
Taiwan
Time Factors
Trisomy/diagnosis/genetics
Ultrasonography/methods
-
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/ajmg.a.31175" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.31175</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
Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment.
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Female; Humans; infant; Male; Survival Rate; Pregnancy; Prognosis; Prenatal Diagnosis; Survival Analysis; Longitudinal Studies; Birth Weight; Newborn; cause of death; Chromosomes; gestational age; Human; Pair 18/genetics; Trisomy/diagnosis/genetics; Children W/SNI; Chromosome Disorders/genetics/mortality/therapy; Fetal Diseases/diagnosis/genetics
Creator
An entity primarily responsible for making the resource
Kosho T; Nakamura T; Kawame H; Baba A; Tamura M; Fukushima Y
Description
An account of the resource
Management of neonates with trisomy 18 is controversial, supposedly due to the prognosis and the lack of precise clinical information concerning efficacy of treatment. To delineate the natural history of trisomy 18 managed under intensive treatment, we reviewed detailed clinical data of 24 patients with full trisomy 18 admitted to the neonatal intensive care unit of Nagano Children's Hospital, providing intensive treatment to those with trisomy 18, from 1994 to 2003. Cesarean, resuscitation by intubation, and surgical operations were performed on 16 (67%), 15 (63%), and 10 (42%) of the patients, respectively. Mechanical ventilation was required by 21 (88%), and 6 (29%) of them were extubated. Survival rate at age 1 week, 1 month, and 1 year was 88%, 83%, and 25%, respectively. Median survival time was 152.5 days. Respiration was not stabilized in two patients with left diaphragmatic eventration and hypoplasia accompanied by lung hypoplasia, even with maximal ventilation. The common underlying factors associated with death were congenital heart defects and heart failure (96%), followed by pulmonary hypertension (78%). The common final modes of death were sudden cardiac or cardiopulmonary arrest (26%) and possible progressive pulmonary hypertension-related events (26%). These data of improved survival, through neonatal intensive treatment, are helpful for clinicians to offer the best information on treatment options to families of patients with trisomy 18.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.31175" target="_blank" rel="noreferrer">10.1002/ajmg.a.31175</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
2006
American Journal Of Medical Genetics.Part A
Baba A
Backlog
Birth Weight
Cause Of Death
Children W/SNI
Chromosome Disorders/genetics/mortality/therapy
Chromosomes
Female
Fetal Diseases/diagnosis/genetics
Fukushima Y
Gestational Age
Human
Humans
Infant
Journal Article
Kawame H
Kosho T
Longitudinal Studies
Male
Nakamura T
Newborn
Pair 18/genetics
Pregnancy
Prenatal Diagnosis
Prognosis
Survival Analysis
Survival Rate
Tamura M
Trisomy/diagnosis/genetics
-
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/ajmg.a.31056" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.31056</a>
<a href="http://dx.doi.org/10.1002/ajmg.a.31056" target="_blank" rel="noreferrer">http://dx.doi.org/10.1002/ajmg.a.31056</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
Patau syndrome with a long survival (146 months): A clinical report and review of literature.
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Longitudinal Studies
Creator
An entity primarily responsible for making the resource
Iliopoulos D
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.31056" target="_blank" rel="noreferrer">10.1002/ajmg.a.31056</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
Description
An account of the resource
2006
2006
American Journal Of Medical Genetics.Part A
Backlog
Iliopoulos D
Journal Article
Longitudinal Studies
-
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/ajmg.a.20664" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.20664</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
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2004
Subject
The topic of the resource
Child; Female; Humans; Male; Survival Rate; Cohort Studies; Adult; Follow-Up Studies; Mutation; Time Factors; Phenotype; adolescent; Preschool; infant; Q3 Literature Search; Developmental Disabilities/pathology; Eye Diseases/pathology; Face/abnormalities; Growth Disorders/pathology; Kidney/pathology; Liver/pathology; Membrane Proteins/genetics; Peroxisomal Disorders/genetics/mortality/pathology; Seizures/pathology; Spleen/pathology
Creator
An entity primarily responsible for making the resource
Poll-The BT; Gootjes J; Duran M; de Klerk JB; Wenniger-Prick LJ; Admiraal RJ; Waterham HR; Wanders RJ; Barth PG
Description
An account of the resource
The peroxisome biogenesis disorders (PBDs) with generalized peroxisomal dysfunction include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). There is clinical, biochemical, and genetic overlap among the three phenotypes, also known as Zellweger spectrum disorders. Clinical distinctions between the phenotypes are not sharply defined. Only limited sources are available to serve as a background for prognosis in PBD, especially in case of prolonged survival. We delineated the natural history of 31 PBD patients (age 1.2-24 years) through systematic clinical and biochemical investigations. We excluded classical ZS from our study, and included all patients with a biochemically confirmed generalized peroxisomal disorder over 1 year of age, irrespective of the previously diagnosed phenotype. The initial clinical suspicion, age at diagnosis, growth, development, neurological symptoms, organ involvements, and survival are summarized. Common to all patients were cognitive and motor dysfunction, retinopathy, sensorineural hearing impairment, and hepatic involvement. Many patients showed postnatal growth failure, 10 patients displayed hyperoxaluria of whom 4 had renal stones. Motor skills ranged from sitting with support to normal gait. Speech development ranged from non-verbal expression to grammatical speech and comprehensive reading. The neurodevelopmental course was variable with stable course, rapid decline with leukodystrophy, spinocerebellar syndrome, and slow decline over a wide range of faculties as outcome profiles. At the molecular level, 21 patients had mutations in the PEX1 gene. The two most common PEX1 mutations were the G843D (c.2528G-->A) missense and the c.2097insT frameshift mutation. Patients having the G843D/G843D or the G843D/c.2097insT genotypes were compared. Patients homozygous for G843D generally had a better developmental outcome. However, one patient who was homozygous for the "mild" G843D mutation had an early lethal disease, whereas two other patients had a phenotype overlapping with the G843D/c.2097insT group. This indicates that next to the PEX1 genotype other yet unknown factors determine the ultimate phenotype.
2004
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.20664" target="_blank" rel="noreferrer">10.1002/ajmg.a.20664</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
2004
Admiraal RJ
Adolescent
Adult
American Journal Of Medical Genetics.Part A
Backlog
Barth PG
Child
Cohort Studies
de Klerk JB
Developmental Disabilities/pathology
Duran M
Eye Diseases/pathology
Face/abnormalities
Female
Follow-up Studies
Gootjes J
Growth Disorders/pathology
Humans
Infant
Journal Article
Kidney/pathology
Liver/pathology
Male
Membrane Proteins/genetics
Mutation
Peroxisomal Disorders/genetics/mortality/pathology
Phenotype
Poll-The BT
Preschool
Q3 Scoping Review Results
Seizures/pathology
Spleen/pathology
Survival Rate
Time Factors
Wanders RJ
Waterham HR
Wenniger-Prick LJ
-
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/ajmg.a.34084" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.34084</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
Trisomy 13 and 18 and quality of life: Treading "softly"
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2011
Creator
An entity primarily responsible for making the resource
Fenton LJ
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.34084" target="_blank" rel="noreferrer">10.1002/ajmg.a.34084</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
2011
American Journal Of Medical Genetics.Part A
Backlog
Fenton LJ
Journal Article
-
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/ajmg.a.34329" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.34329</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
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature
Publisher
An entity responsible for making the resource available
American Journal Of Medical Genetics.Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2011
Creator
An entity primarily responsible for making the resource
Schrier SA; Sherer I; Deardorff MA; Clark D; Audette L; Gillis L; Kline AD; Ernst L; Loomes K; Krantz ID; Jackson LG
Description
An account of the resource
To identify causes of death (COD) in propositi with Cornelia de Lange syndrome (CdLS) at various ages, and to develop guidelines to improve management and avoid morbidity and mortality, we retrospectively reviewed a total of 426 propositi with confirmed clinical diagnoses of CdLS in our database who died in a 41-year period between 1966 and 2007. Of these, 295 had an identifiable COD reported to us. Clinical, laboratory, and complete autopsy data were completed on 41, of which 38 were obtainable, an additional 19 had autopsies that only documented the COD, and 45 propositi had surgical, imaging, or terminal event clinical documentation of their COD. Proband ages ranged from fetuses (21-40 weeks gestation) to 61 years. A literature review was undertaken to identify all reported causes of death in CdLS individuals. In our cohort of 295 propositi with a known COD, respiratory causes including aspiration/reflux and pneumonias were the most common primary causes (31%), followed by gastrointestinal disease, including obstruction/volvulus (19%). Congenital anomalies accounted for 15% of deaths and included congenital diaphragmatic hernia and congenital heart defects. Acquired cardiac disease accounted for 3% of deaths. Neurological causes and accidents each accounted for 8%, sepsis for 4%, cancer for 2%, renal disease for 1.7%, and other causes, 9% of deaths. We also present 21 representative clinical cases for illustration. This comprehensive review has identified important etiologies contributing to the morbidity and mortality in this population that will provide for an improved understanding of clinical complications, and management for children and adults with CdLS.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.34329" target="_blank" rel="noreferrer">10.1002/ajmg.a.34329</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
2011
American Journal Of Medical Genetics.Part A
Audette L
Backlog
Clark D
Deardorff MA
Ernst L
Gillis L
Jackson LG
Journal Article
Kline AD
Krantz ID
Loomes K
Schrier SA
Sherer I