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  1. Article ; Online: Down Syndrome Cures: Perspectives of People With Down Syndrome and Their Parents.

    Rogers, Julie M / Weaver, Amy L / Havyer, Rachel D

    American journal on intellectual and developmental disabilities

    2022  Volume 127, Issue 3, Page(s) 194–212

    Abstract: Down syndrome (DS) research is advancing rapidly, yet efforts have raised ethical questions. This mixed methods study describes views of people with DS (self-advocates) and their parents regarding medical interventions for DS. Responses from 35/171 (20.5% ...

    Abstract Down syndrome (DS) research is advancing rapidly, yet efforts have raised ethical questions. This mixed methods study describes views of people with DS (self-advocates) and their parents regarding medical interventions for DS. Responses from 35/171 (20.5%) self-advocates and 430/867 (49.6%) parents showed the majority of self-advocates were glad they have DS (27/35; 77.1%) and liked who they are (33/35; 94.3%), but did want to learn faster (23/35; 65.7%). Parents much more commonly agreed with a willingness to give medications to prevent Alzheimer's disease (427/429; 99.5%) or blood cancer (428/430; 99.5%) as compared with a medicine to cure DS (225/425; 52.9%). Qualitative comments intertwined DS with identity, yet indicated desire for improved quality of life and opportunities. Responses decoupled DS itself from the complications of DS, with treatment of complications being more acceptable.
    MeSH term(s) Alzheimer Disease ; Down Syndrome/complications ; Down Syndrome/therapy ; Emotions ; Humans ; Parents ; Quality of Life
    Language English
    Publishing date 2022-04-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2477909-X
    ISSN 1944-7558 ; 1944-7515
    ISSN (online) 1944-7558
    ISSN 1944-7515
    DOI 10.1352/1944-7558-127.3.194
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Population-based incidence of food allergies in Olmsted County over 17 years.

    Almodallal, Yahya / Weaver, Amy L / Joshi, Avni Y

    Allergy and asthma proceedings

    2022  Volume 43, Issue 1, Page(s) 44–49

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Adolescent ; Adult ; Arachis ; Child ; Child, Preschool ; Female ; Food Hypersensitivity/epidemiology ; Humans ; Incidence ; Infant ; Male ; Minnesota/epidemiology ; Prevalence
    Language English
    Publishing date 2022-01-03
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1312445-6
    ISSN 1539-6304 ; 1088-5412
    ISSN (online) 1539-6304
    ISSN 1088-5412
    DOI 10.2500/aap.2022.43.210088
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  3. Article ; Online: Association of tumor molecular factors with in-transit metastasis in primary cutaneous melanoma.

    Jakub, James W / Weaver, Amy L / Meves, Alexander

    International journal of dermatology

    2022  Volume 61, Issue 9, Page(s) 1117–1123

    Abstract: Background: In-transit metastases (ITM) are a form of locoregional relapse representing intralymphatic metastatic spread and occur in approximately 4-9% of patients with melanoma >1 mm Breslow thickness. Our objective was to evaluate a combination of ... ...

    Abstract Background: In-transit metastases (ITM) are a form of locoregional relapse representing intralymphatic metastatic spread and occur in approximately 4-9% of patients with melanoma >1 mm Breslow thickness. Our objective was to evaluate a combination of clinicopathologic risk factors and gene expression biomarkers predictive of ITM risk.
    Methods: We used PCR to quantify gene expression in diagnostic biopsy tissue across a prospectively designed archival cohort of 854 consecutive thin and intermediate thickness primary cutaneous melanomas. The outcome of interest was ITM >90 days after a melanoma diagnosis. Cox proportional hazard models were fit to estimate each clinicopathologic and molecular characteristic's association with the risk of ITM.
    Results: The 5-year cumulative incidence of ITM was 3.2%. Clinical factors univariately associated with an increased risk of ITM were older age, greater Breslow thickness, greater mitotic rate, lower extremity location, ulceration, and a positive SLN biopsy. Of 108 genes tested, five were significantly upregulated and five significantly downregulated when evaluated in Cox models adjusted for age, Breslow thickness, mitotic rate, and lower extremity location. Among the upregulated genes, the strongest association was observed for interleukin-8 (IL8).
    Conclusion: A subset of gene expression biomarkers was identified as independently associated with the risk of ITM after adjusting for key covariates. Once sufficiently validated, our results may lead the way to regional therapy trials for a small, selected group of high-risk patients.
    MeSH term(s) Humans ; Lymphatic Metastasis ; Melanoma/pathology ; Neoplasm Recurrence, Local ; Prognosis ; Sentinel Lymph Node Biopsy ; Skin Neoplasms/pathology ; Melanoma, Cutaneous Malignant
    Language English
    Publishing date 2022-03-05
    Publishing country England
    Document type Journal Article
    ZDB-ID 412254-9
    ISSN 1365-4632 ; 0011-9059 ; 1461-1244
    ISSN (online) 1365-4632
    ISSN 0011-9059 ; 1461-1244
    DOI 10.1111/ijd.16141
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  4. Article ; Online: Eosinophilic esophagitis: Does age matter?

    O'Sullivan, Donnchadh / Camila Cardenas, Maria / Ricaurte, Luisa / Moreira, Roger / Weaver, Amy L / Hopson, Puanani / Absah, Imad

    Journal of pediatric gastroenterology and nutrition

    2024  

    Abstract: Objectives: Eosinophilic esophagitis (EoE) is often diagnosed in school-age children between 6- and 9-year-old. There is less known about those who are diagnosed with EoE that are younger than 6 years old. The objective of this study is to compare ... ...

    Abstract Objectives: Eosinophilic esophagitis (EoE) is often diagnosed in school-age children between 6- and 9-year-old. There is less known about those who are diagnosed with EoE that are younger than 6 years old. The objective of this study is to compare clinical presentation, comorbidities, and outcomes based on age at diagnosis of EoE.
    Methods: Single-center retrospective chart review of children (<18 years) diagnosed with EoE between 2005 and 2020. We recorded demographics, clinical presentation, family history, past medical history, treatment, and endoscopic findings. Children in this cohort were classified based on age into three age groups: <2 years, 2-<6 years, and 6-<18 years.
    Results: We identified 256 children with EoE, the mean age (SD) at the time of diagnosis was 9 (5.2) years and 184 (72%) were male. We had 164 (64%) patients with available follow-up esophagogastroduodenoscopies (EGD) data (495 EGDs in total) of those 99/164 (60%) reached mucosal remission. In the very young children (<2 years) vomiting was the most common presentation, while poor weight gain was seen more in the 2-<6-year group in comparison to the >6-years. Food impaction and abdominal pain were most likely to present in older children 6-18 years. Combination therapy, as opposed to a single therapy, induced remission at a higher frequency in the <6-year group in comparison to the 6-<18-year group (85% vs. 66%).
    Conclusion: EoE should be considered in younger children presenting with feeding difficulty and poor weight gain. Combination therapy seems to be more effective in younger children with EoE, but further studies with bigger sample size are needed to study the efficacy of the different combination therapies.
    Language English
    Publishing date 2024-04-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 603201-1
    ISSN 1536-4801 ; 0277-2116
    ISSN (online) 1536-4801
    ISSN 0277-2116
    DOI 10.1002/jpn3.12201
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  5. Article ; Online: Would Women With Solid Organ Transplant Qualify for Triennial Cervical Cancer Screening as Recommended by the American College of Obstetricians and Gynecologists in 2016 and American Society for Colposcopy and Cervical Pathology in 2019?

    Long, Margaret E / Chantigian, Paula D M / Weaver, Amy L

    Journal of lower genital tract disease

    2021  Volume 25, Issue 2, Page(s) 92–97

    Abstract: Objective: The aim of the study was to assess the applicability and safety of cervical cancer screening guidelines recommended by the American College of Obstetricians and Gynecologists (2016) and American Society for Colposcopy and Cervical Pathology ( ... ...

    Abstract Objective: The aim of the study was to assess the applicability and safety of cervical cancer screening guidelines recommended by the American College of Obstetricians and Gynecologists (2016) and American Society for Colposcopy and Cervical Pathology (2019) for women with solid organ transplants (SOTs).
    Materials and methods: We analyzed data previously abstracted through December 2015 for 971 women (18-60 y) who received their first SOT at Mayo Clinic (Rochester, MN) from January 17, 1995, through December 31, 2011. Inclusion criteria were initial benign findings on cervical cytology after SOT and at least 1 subsequent cytologic screening.
    Results: Of 415 women whose initial cytologic findings were benign, 310 met inclusion criteria. The cumulative incidence of abnormal cervical cytology among these 310 women was 4.3% (95% CI = 1.9%-6.7%) by 30 months and 11.2% (95% CI = 7.1%-15.4%) by 60 months after their initial benign results. Considering all women with SOT, 68.4% (284/415) had no documented abnormal cytologic findings within 60 months (26 had abnormality; 284 no abnormality; and 105 not assessed). In women with negative tests for human papillomavirus, high-grade squamous intraepithelial lesions were not documented on cytology with variable duration of follow-up. No cervical squamous cell carcinoma was identified.
    Conclusions: Of women with initial benign cervical cytology after SOT, more than two thirds would have been eligible for extended-interval screening. Further study is needed, particularly regarding the role of high-risk human papillomavirus testing.
    MeSH term(s) Adolescent ; Adult ; Cervical Intraepithelial Neoplasia/diagnosis ; Cervix Uteri ; Colposcopy ; Early Detection of Cancer/methods ; Early Detection of Cancer/statistics & numerical data ; Female ; Gynecology ; Humans ; Middle Aged ; Minnesota/epidemiology ; Obstetrics ; Papanicolaou Test/statistics & numerical data ; Practice Guidelines as Topic ; Societies, Medical ; Time ; Transplant Recipients/statistics & numerical data ; Transplants ; Uterine Cervical Neoplasms/diagnosis ; Uterine Cervical Neoplasms/epidemiology ; Uterine Cervical Neoplasms/pathology ; Vaginal Smears ; Young Adult
    Language English
    Publishing date 2021-02-25
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2041332-4
    ISSN 1526-0976 ; 1089-2591
    ISSN (online) 1526-0976
    ISSN 1089-2591
    DOI 10.1097/LGT.0000000000000588
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  6. Article ; Online: Risk of Autoimmune Disease in Research-Identified Cases of Autism Spectrum Disorder: A Longitudinal, Population-Based Birth Cohort Study.

    Villarreal, Veronica R / Katusic, Maja Z / Myers, Scott M / Weaver, Amy L / Nocton, James J / Voigt, Robert G

    Journal of developmental and behavioral pediatrics : JDBP

    2024  Volume 45, Issue 1, Page(s) e46–e53

    Abstract: Objective: Determine the risk of autoimmune disease in research-identified cases of autism spectrum disorder (ASD) compared with referents using a longitudinal, population-based birth cohort.: Methods: ASD incident cases were identified from a ... ...

    Abstract Objective: Determine the risk of autoimmune disease in research-identified cases of autism spectrum disorder (ASD) compared with referents using a longitudinal, population-based birth cohort.
    Methods: ASD incident cases were identified from a population-based birth cohort of 31,220 individuals. Inclusive ASD definition based on DSM-IV-TR autistic disorder, Asperger syndrome, and pervasive developmental disorder, not otherwise specified, was used to determine ASD cases. For each ASD case, 2 age- and sex-matched referents without ASD were identified. Diagnosis codes assigned between birth and December 2017 were electronically obtained. Individuals were classified as having an autoimmune disorder if they had at least 2 diagnosis codes more than 30 days apart. Cox proportional hazards models were fit to estimate the hazard ratio (HR) between ASD status and autoimmune disorder.
    Results: Of 1014 ASD cases, 747 (73.7%) were male. Fifty ASD cases and 59 of the 1:2 matched referents were diagnosed with first autoimmune disorder at the median age of 14 and 17.1 years, respectively. ASD cases had increased risk of autoimmune disease compared with matched referents (HR 1.74; 95% confidence interval [CI], 1.21-2.52). The increased risk was statistically significant among male patients (HR 2.01; 95% CI, 1.26-3.21) but not among the smaller number of female subjects (HR 1.38; 95% CI, 0.76-2.50).
    Conclusion: This study provides evidence from a longitudinal, population-based birth cohort for co-occurrence of ASD and autoimmune disorders. Thus, children with ASD should be monitored for symptoms of autoimmune disease and appropriate workup initiated.
    MeSH term(s) Child ; Humans ; Male ; Female ; Adolescent ; Autism Spectrum Disorder/epidemiology ; Autism Spectrum Disorder/diagnosis ; Child Development Disorders, Pervasive/diagnosis ; Cohort Studies ; Birth Cohort ; Autistic Disorder
    Language English
    Publishing date 2024-02-16
    Publishing country United States
    Document type Journal Article
    ZDB-ID 603379-9
    ISSN 1536-7312 ; 0196-206X
    ISSN (online) 1536-7312
    ISSN 0196-206X
    DOI 10.1097/DBP.0000000000001232
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  7. Article ; Online: The Association of Adverse Childhood Experiences with Long-term Mood and Anxiety Disorders After Childhood Traumatic Brain Injury: A Population-based Case-Control Study.

    Esterov, Dmitry / Hines, Emily / Neumann, Alyssa A / Mara, Kristin C / Weaver, Amy L

    Archives of physical medicine and rehabilitation

    2023  Volume 104, Issue 12, Page(s) 2075–2083

    Abstract: Objective: To assess the association between ACEs and the development of psychiatric disorders by age 25 among individuals who sustained TBI prior to age 10.: Design: Population-based case-control study.: Setting: Olmsted County, Minnesota.: ... ...

    Abstract Objective: To assess the association between ACEs and the development of psychiatric disorders by age 25 among individuals who sustained TBI prior to age 10.
    Design: Population-based case-control study.
    Setting: Olmsted County, Minnesota.
    Participants: 566 individuals (N=566) who sustained a TBI prior to age 10 were identified and classified using a validated TBI classification system. Among these individuals, cases with a subsequent mood or anxiety disorder prior to age 25 were identified through clinical diagnostic codes and manual record review. For each case, a 1:1 matched control was randomly selected from individuals with a pediatric TBI who did not have a mood/anxiety disorder prior to the matched case's mood/anxiety disorder.
    Interventions: Not applicable MAIN OUTCOME MEASURES: Development of a mood/anxiety disorder.
    Results: Among the 114 matched pairs of individuals with a TBI prior to age 10, a subsequent mood/anxiety diagnosis was significantly associated with a history of 10 of 14 ACE categories and with having an ACE score ≥1 (odds ratio 5.17; 95% confidence interval 2.78-9.59).
    Conclusions: This is the first population-based study to the authors' knowledge showing that among children who sustained a TBI prior to age 10, those who experienced ACEs are at increased risk of developing a mood or anxiety disorder.
    MeSH term(s) Humans ; Child ; Adult ; Anxiety Disorders/epidemiology ; Anxiety Disorders/complications ; Adverse Childhood Experiences ; Case-Control Studies ; Brain Injuries, Traumatic/epidemiology ; Brain Injuries, Traumatic/complications ; Mood Disorders/epidemiology
    Language English
    Publishing date 2023-07-17
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 80057-0
    ISSN 1532-821X ; 0003-9993
    ISSN (online) 1532-821X
    ISSN 0003-9993
    DOI 10.1016/j.apmr.2023.07.002
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  8. Article ; Online: Socioeconomic status, race, and preadolescent acne: A population-based retrospective cohort analysis in a mixed rural-urban community of the United States (Olmsted County, Minnesota).

    Rodriguez Baisi, Katinna E / Weaver, Amy L / Wi, Chung-Il / Shakshouk, Hadir / Tollefson, Megha M

    Pediatric dermatology

    2023  Volume 40, Issue 3, Page(s) 460–465

    Abstract: Background/objective: There is limited information about the potential relationship of socioeconomic status (SES) with acne in preadolescents. Our objective was to assess the possible relationship between SES and preadolescent acne.: Methods: A ... ...

    Abstract Background/objective: There is limited information about the potential relationship of socioeconomic status (SES) with acne in preadolescents. Our objective was to assess the possible relationship between SES and preadolescent acne.
    Methods: A population-based retrospective cohort study was conducted to identify Olmsted County, Minnesota, residents with an initial acne diagnosis between 7 and ≤12 years old during 2010 to 2018 using the Rochester Epidemiology Project. For each acne case, we randomly selected 2 sex- and age-matched controls without an acne diagnosis from the county. Individual HOUsing-based SocioEconomic Status index (HOUSES) derived from real property data was used to evaluate SES, represented as four quartiles with higher quartile representing higher SES.
    Results: A total of 604 patients met the criteria. HOUSES distribution significantly differed between cases and controls (p = .001); a higher proportion of acne cases were in quartile 4 (42.2% vs. 32.7%), indicating higher SES. Race and ethnicity did not significantly differ between cases and controls. Among cases and controls, 74.5% and 72.3% were White, respectively. Study limitations include its retrospective design, only patients who visited a physician were included, and Olmsted County residents are largely non-Hispanic White.
    Conclusion: Preadolescents diagnosed with acne have a higher SES than those without diagnosed acne, highlighting a potential disparity in access to care and appropriate diagnosis.
    MeSH term(s) Humans ; United States ; Child ; Retrospective Studies ; Minnesota/epidemiology ; Social Class ; Cohort Studies ; Acne Vulgaris/epidemiology
    Language English
    Publishing date 2023-03-25
    Publishing country United States
    Document type Journal Article
    ZDB-ID 605539-4
    ISSN 1525-1470 ; 0736-8046
    ISSN (online) 1525-1470
    ISSN 0736-8046
    DOI 10.1111/pde.15294
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  9. Article ; Online: Acne incidence in preadolescents and association with increased body mass index: A population-based retrospective cohort study of 643 cases with age- and sex-matched community controls.

    Rodriguez Baisi, Katinna E / Weaver, Amy L / Shakshouk, Hadir / Tollefson, Megha M

    Pediatric dermatology

    2023  Volume 40, Issue 3, Page(s) 428–433

    Abstract: Background/objectives: Little is known about acne incidence in preadolescents and its potential association with body mass index (BMI). Our study aims to determine acne incidence in preadolescents and its association with BMI.: Methods: A population- ... ...

    Abstract Background/objectives: Little is known about acne incidence in preadolescents and its potential association with body mass index (BMI). Our study aims to determine acne incidence in preadolescents and its association with BMI.
    Methods: A population-based retrospective cohort study identified 7- to ≤12 year-olds with an initial acne diagnosis during 2010-2018, and incidence was calculated. Two age- and sex-matched controls without acne were randomly selected per case, and BMI was recorded.
    Results: A total of 643 acne patients were identified. Annual age- and sex-adjusted incidence rate was 58.0 per 10,000 person-years, higher in females vs. males (89.2 vs. 28.2 per 10,000 person-years, p < .001), and increased with age (4.3, 24.4, and 144.3 per 10,000 person-years among 7-8, 9-10, and 11-12 year-olds, respectively, p < .001). Systemic medication use was associated with increasing BMI (odds ratio = 1.43 per 5 kg/m
    Conclusion: Acne incidence is higher in preadolescent girls than boys and increases with age. Preadolescents with acne are more likely to be obese than those without acne. Those with higher BMIs are more likely to be given systemic treatment.
    MeSH term(s) Male ; Female ; Humans ; Body Mass Index ; Incidence ; Retrospective Studies ; Obesity/complications ; Acne Vulgaris/epidemiology
    Language English
    Publishing date 2023-01-03
    Publishing country United States
    Document type Journal Article
    ZDB-ID 605539-4
    ISSN 1525-1470 ; 0736-8046
    ISSN (online) 1525-1470
    ISSN 0736-8046
    DOI 10.1111/pde.15223
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  10. Article ; Online: IQ in Autism Spectrum Disorder: A Population-Based Birth Cohort Study.

    Katusic, Maja Z / Myers, Scott M / Weaver, Amy L / Voigt, Robert G

    Pediatrics

    2021  Volume 148, Issue 6

    Abstract: Objectives: We aimed to describe the intellectual ability and ratio of boys to girls with average or higher IQ within autism spectrum disorder (ASD) cases identified in a population-based birth cohort. We hypothesized that research-identified ... ...

    Abstract Objectives: We aimed to describe the intellectual ability and ratio of boys to girls with average or higher IQ within autism spectrum disorder (ASD) cases identified in a population-based birth cohort. We hypothesized that research-identified individuals with ASD would be more likely to have average or higher IQ, compared to clinically diagnosed ASD. We also hypothesized the male to female ratio would decrease as the definition of ASD broadened.
    Methods: ASD incident cases were identified from 31 220 subjects in a population-based birth cohort. Research-defined autism spectrum disorder, inclusive criteria (ASD-RI) was based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision, autistic disorder (AD), Asperger Disorder, and pervasive developmental disorder not otherwise specified criteria. Research-defined autism spectrum disorder, narrow criteria (ASD-RN) was a narrower definition based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision AD criteria. Clinical diagnoses of ASD were abstracted from medical and school records. Intellectual ability was based on the last IQ score or on documented diagnoses of intellectual disability if no scores available. Average or higher IQ was defined as IQ ≥86.
    Results: A total of 59.1% of those with ASD-RI (n = 890), 51.2% of those with ASD-RN (n = 453), and 42.8% of those with clinically diagnosed autism spectrum disorder (n = 187) had average or higher IQ. Within the ASD-RI and ASD-RN groups, boys were more likely than girls to have an average or higher IQ (62.0% vs 51.3% [P = .004] and 54.1% vs. 42.5% [P = .03], respectively).
    Conclusion: Our data suggest that nearly half of individuals with ASD have average or higher IQ. Boys with ASD are more likely to have average or higher IQ than girls. Patients with ASD and higher IQ remain at risk for not being identified.
    MeSH term(s) Adolescent ; Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/epidemiology ; Autism Spectrum Disorder/psychology ; Birth Cohort ; Child ; Child, Preschool ; Cohort Studies ; Diagnostic and Statistical Manual of Mental Disorders ; Female ; Humans ; Intelligence/classification ; Intelligence Tests ; Male ; Minnesota/epidemiology ; Sex Factors ; Young Adult
    Language English
    Publishing date 2021-12-01
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 207677-9
    ISSN 1098-4275 ; 0031-4005
    ISSN (online) 1098-4275
    ISSN 0031-4005
    DOI 10.1542/peds.2020-049899
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