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  1. Article ; Online: Approach to the Patient With Hypothalamic Obesity.

    Shoemaker, Ashley H / Tamaroff, Jaclyn

    The Journal of clinical endocrinology and metabolism

    2022  Volume 108, Issue 5, Page(s) 1236–1242

    Abstract: Hypothalamic obesity (HO) is defined as abnormal weight gain due to physical destruction of the hypothalamus. Suprasellar tumors, most commonly craniopharyngiomas, are a classic cause of HO. HO often goes unnoticed initially as patients, families, and ... ...

    Abstract Hypothalamic obesity (HO) is defined as abnormal weight gain due to physical destruction of the hypothalamus. Suprasellar tumors, most commonly craniopharyngiomas, are a classic cause of HO. HO often goes unnoticed initially as patients, families, and medical teams are focused on oncologic treatments and management of panhypopituitarism. HO is characterized by rapid weight gain in the first year after hypothalamic destruction followed by refractory obesity due to an energy imbalance of decreased energy expenditure without decreased food intake. Currently available pharmacotherapies are less effective in HO than in common obesity. While not a cure, dietary interventions, pharmacotherapy, and bariatric surgery can mitigate the effects of HO. Early recognition of HO is necessary to give an opportunity to intervene before substantial weight gain occurs. Our goal for this article is to review the pathophysiology of HO and to discuss available treatment options and future directions for prevention and treatment.
    MeSH term(s) Humans ; Pituitary Neoplasms/complications ; Pituitary Neoplasms/diagnosis ; Pituitary Neoplasms/therapy ; Hypothalamic Diseases/complications ; Hypothalamic Diseases/diagnosis ; Craniopharyngioma/complications ; Craniopharyngioma/diagnosis ; Craniopharyngioma/therapy ; Obesity/complications ; Obesity/therapy ; Weight Gain
    Language English
    Publishing date 2022-11-28
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgac678
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Risk Factors for Progression to Type 2 Diabetes in a Pediatric Prediabetes Clinic Population.

    Belsky, Natasha / Tamaroff, Jaclyn / Shoemaker, Ashley H

    Journal of the Endocrine Society

    2023  Volume 7, Issue 11, Page(s) bvad118

    Abstract: Background: Pediatric type 2 diabetes (T2D) is increasing in prevalence, yet it is unclear what definition of pediatric prediabetes predicts progression to T2D. Strategies are needed to better identify at risk individuals who could benefit from early ... ...

    Abstract Background: Pediatric type 2 diabetes (T2D) is increasing in prevalence, yet it is unclear what definition of pediatric prediabetes predicts progression to T2D. Strategies are needed to better identify at risk individuals who could benefit from early intervention.
    Methods: Retrospective chart review of a pediatric prediabetes clinic over 7 years. Inclusion criteria include hemoglobin A1c (HbA1C) and ≥1 glucose from oral glucose tolerance test. Exclusion criteria include type 1 diabetes, maturity onset diabetes of the young, or T2D on initial visit.
    Results: A total of 552 patients were included, 6.5% (n = 36) progressed to T2D over 2.4 ± 1.5 years. At initial visit, T2D progressors had a higher body mass index (38.6 ± 6.5 vs 34.2 ± 8.4 kg/m
    Discussion: A total of 6.5% of patients with prediabetes developed T2D over a 7-year period. Initial visit laboratory values and weight trajectory may allow for risk stratification, whereas fasting plasma glucose is less helpful. Weight stabilization and metformin therapy could be important interventions for diabetes prevention in children.
    Language English
    Publishing date 2023-10-12
    Publishing country United States
    Document type Journal Article
    ISSN 2472-1972
    ISSN (online) 2472-1972
    DOI 10.1210/jendso/bvad118
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Prevalence of genetic causes of obesity in clinical practice.

    Tamaroff, Jaclyn / Williamson, Dylan / Slaughter, James C / Xu, Meng / Srivastava, Gitanjali / Shoemaker, Ashley H

    Obesity science & practice

    2023  Volume 9, Issue 5, Page(s) 508–515

    Abstract: Background: While obesity is common in the United States, monogenic obesity is rare, accounting for approximately 5% of individuals with obesity. New targeted therapies for genetic forms of obesity are available but there is limited guidance on who ... ...

    Abstract Background: While obesity is common in the United States, monogenic obesity is rare, accounting for approximately 5% of individuals with obesity. New targeted therapies for genetic forms of obesity are available but there is limited guidance on who requires testing. The aims of this study were to evaluate the prevalence of potentially clinically significant variants among individuals in Pediatric Endocrinology or Medical Weight Center clinics at a single center and to identify clinical characteristics that may make genetic obesity more likely.
    Methods: Children and adults who had a genetic test for obesity, Uncovering Rare Obesity Gene panel, ordered during routine clinic visits from December 2019 to March 2021 were identified.
    Results: Of the 139 patients with testing ordered, 117 had available results and clinical data. Over 40% (52/117, 44%) had at least one positive result (variant) with a variant that is considered pathogenic, likely pathogenic, or a variant of uncertain significance. No association was detected between age, sex, race, and body mass index (BMI) or BMI
    Conclusion: Overall, clinical suspicion for genetic obesity is important in determining who requires genetic testing but no clinical factors were found to predict results. While obesity is multifactorial, novel medications for genetic forms of obesity indicate the need for evidence-based guidelines for who requires genetic testing for obesity.
    Language English
    Publishing date 2023-05-26
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2836381-4
    ISSN 2055-2238 ; 2055-2238
    ISSN (online) 2055-2238
    ISSN 2055-2238
    DOI 10.1002/osp4.671
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Role of Rotavirus Vaccination in Decline in Incidence of Type 1 Diabetes.

    Vajravelu, Mary Ellen / Tamaroff, Jaclyn / Shults, Justine

    JAMA pediatrics

    2019  Volume 173, Issue 9, Page(s) 893

    Language English
    Publishing date 2019-06-28
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2701223-2
    ISSN 2168-6211 ; 2168-6203
    ISSN (online) 2168-6211
    ISSN 2168-6203
    DOI 10.1001/jamapediatrics.2019.2457
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxia.

    Cilenti, Nicolette A / Tamaroff, Jaclyn G / Capiola, Christopher J / Faig, Walter / McBride, Michael G / Paridon, Stephen M / O'Malley, Shannon / Edelson, Jonathan B / Lynch, David R / McCormack, Shana E / Lin, Kimberly Y

    Muscle & nerve

    2024  Volume 69, Issue 5, Page(s) 613–619

    Abstract: Introduction/aims: Traditional exercise is often difficult for individuals with Friedreich ataxia (FRDA), and evidence is limited regarding how to measure exercise performance in this population. We evaluated the feasibility, reliability, and natural ... ...

    Abstract Introduction/aims: Traditional exercise is often difficult for individuals with Friedreich ataxia (FRDA), and evidence is limited regarding how to measure exercise performance in this population. We evaluated the feasibility, reliability, and natural history of adaptive cardiopulmonary exercise test (CPET) performance in children and adults with FRDA.
    Methods: Participants underwent CPET on either an arm cycle ergometer (ACE) or recumbent leg cycle ergometer (RLCE) at up to four visits (baseline, 2 weeks, 4 weeks, and 1 year). Maximum work, oxygen consumption (peak VO
    Results: In our cohort (N = 23), median age was 18 years (interquartile range [IQR], 14-23), median age of FRDA onset was 8 years (IQR 6-13), median Friedreich Ataxia Rating Scale score was 58 (IQR 54-62), and GAA repeat length on the shorter FXN allele (GAA1) was 766 (IQR, 650-900). Twenty-one (91%) completed a maximal CPET (n = 8, ACE and n = 13, RLCE). Age, sex, and GAA1 repeat length were each associated with peak VO
    Discussion: Adaptive CPET is feasible in FRDA, a relevant clinical trial outcome for interventions that impact exercise performance and will increase access to participation as well as generalizability of findings.
    MeSH term(s) Adult ; Child ; Humans ; Adolescent ; Exercise Test ; Friedreich Ataxia/diagnosis ; Reproducibility of Results ; Oxygen Consumption ; Respiratory Function Tests
    Language English
    Publishing date 2024-03-21
    Publishing country United States
    Document type Journal Article
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.28085
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Overview of Atypical Diabetes.

    Tamaroff, Jaclyn / Kilberg, Marissa / Pinney, Sara E / McCormack, Shana

    Endocrinology and metabolism clinics of North America

    2020  Volume 49, Issue 4, Page(s) 695–723

    Abstract: Although type 1 diabetes mellitus and, to a lesser extent, type 2 diabetes mellitus, are the prevailing forms of diabetes in youth, atypical forms of diabetes are not uncommon and may require etiology-specific therapies. By some estimates, up to 6.5% of ... ...

    Abstract Although type 1 diabetes mellitus and, to a lesser extent, type 2 diabetes mellitus, are the prevailing forms of diabetes in youth, atypical forms of diabetes are not uncommon and may require etiology-specific therapies. By some estimates, up to 6.5% of children with diabetes have monogenic forms. Mitochondrial diabetes and cystic fibrosis related diabetes are less common but often noted in the underlying disease. Atypical diabetes should be considered in patients with a known disorder associated with diabetes, aged less than 25 years with nonautoimmune diabetes and without typical characteristics of type 2 diabetes mellitus, and/or with comorbidities associated with atypical diabetes.
    MeSH term(s) Adolescent ; Adult ; Child ; Child, Preschool ; Cystic Fibrosis/complications ; Diabetes Mellitus/diagnosis ; Diabetes Mellitus/etiology ; Diabetes Mellitus/genetics ; Diabetes Mellitus/therapy ; Humans ; Infant ; Infant, Newborn ; Mitochondrial Diseases/complications ; Young Adult
    Language English
    Publishing date 2020-10-14
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 92116-6
    ISSN 1558-4410 ; 0889-8529
    ISSN (online) 1558-4410
    ISSN 0889-8529
    DOI 10.1016/j.ecl.2020.07.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Targeted Education Across Clinical Settings Improves Adherence to Evidence-Based Interventions for Bronchiolitis.

    Molloy, Matthew J / Tamaroff, Jaclyn / McDaniel, Lauren / Genies, Marquita C

    Clinical pediatrics

    2019  Volume 58, Issue 11-12, Page(s) 1284–1290

    Abstract: Bronchiolitis remains a leading cause of hospitalization of infants. Despite evidence-based recommendations, wide variation in practice remains. A pre-post educational intervention was implemented to improve adherence to bronchiolitis guidelines in ... ...

    Abstract Bronchiolitis remains a leading cause of hospitalization of infants. Despite evidence-based recommendations, wide variation in practice remains. A pre-post educational intervention was implemented to improve adherence to bronchiolitis guidelines in emergency and inpatient settings. Among children meeting inclusion criteria (136 pre-intervention, 185 post-intervention), emergency department (ED) bronchodilator use decreased by 64% (
    MeSH term(s) Adrenal Cortex Hormones/therapeutic use ; Anti-Bacterial Agents/therapeutic use ; Bronchiolitis/therapy ; Bronchodilator Agents/therapeutic use ; Emergency Service, Hospital ; Evidence-Based Medicine/methods ; Female ; Guideline Adherence/statistics & numerical data ; Humans ; Infant ; Male ; Pediatrics/education
    Chemical Substances Adrenal Cortex Hormones ; Anti-Bacterial Agents ; Bronchodilator Agents
    Language English
    Publishing date 2019-06-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 207678-0
    ISSN 1938-2707 ; 0009-9228
    ISSN (online) 1938-2707
    ISSN 0009-9228
    DOI 10.1177/0009922819852982
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Rate of Change in Cardiac Magnetic Resonance Imaging Measures Is Associated With Death in Duchenne Muscular Dystrophy.

    Starnes, Joseph R / Xu, Meng / George-Durrett, Kristen / Crum, Kimberly / Raucci, Frank J / Spurney, Christopher F / Hor, Kan N / Cripe, Linda H / Husain, Nazia / Buddhe, Sujatha / Gambetta, Katheryn / Tamaroff, Jaclyn / Slaughter, James C / Markham, Larry W / Soslow, Jonathan H

    Journal of the American Heart Association

    2024  Volume 13, Issue 9, Page(s) e032960

    Abstract: Background: Cardiovascular disease is the leading cause of death among patients with Duchenne muscular dystrophy (DMD). Identifying patients at risk of early death could allow for increased monitoring and more intensive therapy. Measures that associate ... ...

    Abstract Background: Cardiovascular disease is the leading cause of death among patients with Duchenne muscular dystrophy (DMD). Identifying patients at risk of early death could allow for increased monitoring and more intensive therapy. Measures that associate with death could serve as surrogate outcomes in clinical trials.
    Methods and results: Duchenne muscular dystrophy subjects prospectively enrolled in observational studies were included. Models using generalized least squares were used to assess the difference of cardiac magnetic resonance measurements between deceased and alive subjects. A total of 63 participants underwent multiple cardiac magnetic resonance imaging and were included in the analyses. Twelve subjects (19.1%) died over a median follow-up of 5 years (interquartile range, 3.1-7.0). Rate of decline in left ventricular ejection fraction was faster in deceased than alive subjects (
    Conclusions: Duchenne muscular dystrophy death is associated with the rate of change in left ventricular ejection fraction, midcircumferential strain, and ventricular volumes. Aggressive medical therapy to decrease the rate of progression may improve the mortality rate in this population. A decrease in the rate of progression may serve as a valid surrogate outcome for therapeutic trials.
    MeSH term(s) Humans ; Muscular Dystrophy, Duchenne/mortality ; Muscular Dystrophy, Duchenne/physiopathology ; Muscular Dystrophy, Duchenne/diagnostic imaging ; Muscular Dystrophy, Duchenne/complications ; Stroke Volume/physiology ; Male ; Ventricular Function, Left ; Adolescent ; Child ; Prospective Studies ; Magnetic Resonance Imaging, Cine/methods ; Disease Progression ; Magnetic Resonance Imaging ; Young Adult ; Predictive Value of Tests ; Risk Factors ; Time Factors ; Prognosis
    Language English
    Publishing date 2024-04-30
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Observational Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 2653953-6
    ISSN 2047-9980 ; 2047-9980
    ISSN (online) 2047-9980
    ISSN 2047-9980
    DOI 10.1161/JAHA.123.032960
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Bone Mineral Density and Current Bone Health Screening Practices in Friedreich's Ataxia.

    Dunn, Julia / Tamaroff, Jaclyn / DeDio, Anna / Nguyen, Sara / Wade, Kristin / Cilenti, Nicolette / Weber, David R / Lynch, David R / McCormack, Shana E

    Frontiers in neuroscience

    2022  Volume 16, Page(s) 818750

    Abstract: Introduction: Friedreich's Ataxia (FRDA) is a progressive neurological disorder caused by mutations in both alleles of the : Methods: Dual energy X-ray absorptiometry (DXA) scan-based assessments of areal bone mineral density (aBMD) in individuals ... ...

    Abstract Introduction: Friedreich's Ataxia (FRDA) is a progressive neurological disorder caused by mutations in both alleles of the
    Methods: Dual energy X-ray absorptiometry (DXA) scan-based assessments of areal bone mineral density (aBMD) in individuals with FRDA were abstracted from four studies at the Children's Hospital of Philadelphia (CHOP). Disease outcomes, including the modified FRDA Rating Scale (mFARS), were abstracted from the FRDA Clinical Outcomes Measures Study (FACOMS), a longitudinal natural history study. A survey regarding bone health and fractures was sent to individuals in FACOMS-CHOP.
    Results: Adults with FRDA (
    Conclusions: Low aBMD is prevalent in FRDA, but few of even the highest risk individuals are undergoing screening. Our findings highlight potential missed opportunities for the screening and treatment of low aBMD in FRDA.
    Language English
    Publishing date 2022-03-14
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2411902-7
    ISSN 1662-453X ; 1662-4548
    ISSN (online) 1662-453X
    ISSN 1662-4548
    DOI 10.3389/fnins.2022.818750
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Friedreich's Ataxia related Diabetes: Epidemiology and management practices.

    Tamaroff, Jaclyn / DeDio, Anna / Wade, Kristin / Wells, McKenzie / Park, Courtney / Leavens, Karla / Rummey, Christian / Kelly, Andrea / Lynch, David R / McCormack, Shana E

    Diabetes research and clinical practice

    2022  Volume 186, Page(s) 109828

    Abstract: Aims: Friedreich's Ataxia (FRDA) is a progressive neuromuscular disorder typically caused by GAA triplet repeat expansions in both frataxin gene alleles. FRDA can be complicated by diabetes mellitus (DM). The objective of this study was to describe the ... ...

    Abstract Aims: Friedreich's Ataxia (FRDA) is a progressive neuromuscular disorder typically caused by GAA triplet repeat expansions in both frataxin gene alleles. FRDA can be complicated by diabetes mellitus (DM). The objective of this study was to describe the prevalence of, risk factors for, and management practices of FRDA-related DM.
    Methods: FACOMS, a prospective, multi-site natural history study, includes 1,104 individuals. Extracted data included the presence of DM and other co-morbidities, genetic diagnosis, and markers of disease severity. We performed detailed medical record review and a survey for the subset of individuals with FRDA-related DM followed at one FACOMS site, Children's Hospital of Philadelphia.
    Results: FRDA-related DM was reported by 8.7% of individuals. Age, severe disease, and FRDA cardiac complications were positively associated with DM risk. FRDA-related DM was generally well-controlled, as reflected by HbA1c, though diabetic ketoacidosis did occur. Insulin is the mainstay of treatment (64-74% overall); in adults, metformin use was common and newer glucose-lowering agents were used rarely.
    Conclusions: Clinical factors identify individuals at increased risk for FRDA-related DM. Future studies should test strategies for FRDA-related DM screening and management, in particular the potential role for novel glucose-lowering therapies in preventing or delaying FRDA-related cardiac disease.
    MeSH term(s) Adult ; Child ; Diabetes Mellitus/epidemiology ; Diabetes Mellitus/genetics ; Diabetic Ketoacidosis/complications ; Friedreich Ataxia/complications ; Friedreich Ataxia/epidemiology ; Glucose ; Humans ; Iron-Binding Proteins/genetics ; Prospective Studies ; Risk Factors ; Trinucleotide Repeat Expansion
    Chemical Substances Iron-Binding Proteins ; Glucose (IY9XDZ35W2)
    Language English
    Publishing date 2022-03-14
    Publishing country Ireland
    Document type Journal Article ; Multicenter Study
    ZDB-ID 632523-3
    ISSN 1872-8227 ; 0168-8227
    ISSN (online) 1872-8227
    ISSN 0168-8227
    DOI 10.1016/j.diabres.2022.109828
    Database MEDical Literature Analysis and Retrieval System OnLINE

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