Medical Specialties Commons^™

Cataract Surgery In Children From Birth To Less Than 13 Years Of Age: Baseline Characteristics Of The Cohort., Michael X. Repka, Trevano W. Dean, Elizabeth L. Lazar, Kimberly G. Yen, Phoebe D. Lenhart, Sharon F. Freedman, Denise Hug, Bahram Rahmani, Serena X. Wang, Raymond T. Kraker, David K. Wallace, Pediatric Eye Disease Investigator Group

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To describe baseline characteristics, initial postoperative refractive errors, operative complications, and magnitude of the intraocular lens (IOL) prediction error for refractive outcome in children undergoing lensectomy largely in North America.

DESIGN: Prospective registry study of children from birth to enrollment.

PARTICIPANTS: Total of 1266 eyes of 994 children; 49% female and 59% white.

METHODS: Measurement of refractive error, axial length, and complete ophthalmic examination.

MAIN OUTCOME MEASURES: Eye and systemic associated conditions, IOL style, refractive error, pseudophakic refraction prediction error, operative and perioperative complications.

RESULTS: Mean age at first eligible lens surgery was 4.2 years; 337 (34%) were(59%). Additional …

Family Factors That Characterize Adolescents With Severe Obesity And Their Role In Weight Loss Surgery Outcomes., Meg H. Zeller, Sanita Hunsaker, Carmen Mikhail, Jennifer Reiter-Purtill, Mary Beth Mccullough, Beth Garland, Heather Austin, Gia Washington, Amy Baughcum, Dana Rofey, Kevin Smith, Teenview Study Group And In Collaboration With The Teen-Labs Consortium

Manuscripts, Articles, Book Chapters and Other Papers

Objective: To comprehensively assess family characteristics of adolescents with severe obesity and whether family factors impact weight loss outcomes following weight loss surgery (WLS).

Methods: Multisite prospective data from 138 adolescents undergoing WLS and primary caregivers (adolescent: Mage = 16.9; MBMI = 51.5 kg/m2 ; caregiver: Mage = 44.5; 93% female) and 83 nonsurgical comparators (NSComp: adolescent: Mage = 16.1; MBMI = 46.9 kg/m2 ; caregiver: Mage = 43.9; 94% female) were collected using standardized measures at presurgery/baseline and at 1 and 2 years.

Results: The majority (77.3%) of caregivers had obesity, with rates of caregiver WLS significantly higher in …

A 9-Year-Old Boy With A Chest Mass And Eosinophilia., Laura E. Norton, Sean N. Curtis, Jennifer L. Goldman

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Erratum To: High Expression Of Myocyte Enhancer Factor 2c (Mef2c) Is Associated With Adverse-Risk Features And Poor Outcome In Pediatric Acute Myeloid Leukemia: A Report From The Children's Oncology Group., George S. Laszlo, Todd A. Alonzo, Chelsea J. Gudgeon, Kimberly H. Harrington, Alex Kentsis, Robert B. Gerbing, Yi-Cheng Wang, Rhonda E. Ries, Susana C. Raimondi, Betsy A. Hirsch, A S. Gamis, Soheil Meshinchi, Roland B. Walter

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Monitoring Change In Volume Of Calcifications In Juvenile Idiopathic Inflammatory Myopathy: A Pilot Study Using Low Dose Computed Tomography., Maria Ibarra, Cynthia Rigsby, Gabrielle A. Morgan, Christina L. Sammet, Chiang-Ching Huang, Dong Xu, Ira N. Targoff, Lauren M. Pachman

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Dystrophic calcifications may occur in patients with J uvenile Idiopathic Inflammatory Myopathy (JIIM) as well as other connective tissue and metabolic diseases, but a reliable method of measuring the volume of these calcifications has not been established. The purpose of this study is to determine the feasibility of low dose, limited slice, Computed Tomography (CT) to measure objectively in-situ calcification volumes in patients with JIIM over time.

METHODS: Ten JIIM patients (eight JDM, two Overlap) with calcifications were prospectively recruited over a 2-year period to undergo two limited, low dose, four-slice CT scans. Calculation of the volume of calcifications …

A Trial Of Unrelated Donor Marrow Transplantation For Children With Severe Sickle Cell Disease., Shalini Shenoy, Mary Eapen, Julie A. Panepinto, Brent R. Logan, Juan Wu, Allistair Abraham, Joel Brochstein, Sonali Chaudhury, Kamar Godder, Ann E. Haight, Kimberly A. Kasow, Kathryn Leung, Martin Andreansky, Monica Bhatia, Jignesh Dalal, Hilary Haines, Jennifer Jaroscak, Hillard M. Lazarus, John E. Levine, Lakshmanan Krishnamurti, David Margolis, Gail C. Megason, Lolie C. Yu, Michael A. Pulsipher, Iris Gersten, Nancy Difronzo, Mary M. Horowitz, Mark C. Walters, Naynesh Kamani

Manuscripts, Articles, Book Chapters and Other Papers

Children with sickle cell disease experience organ damage, impaired quality of life, and premature mortality. Allogeneic bone marrow transplant from an HLA-matched sibling can halt disease progression but is limited by donor availability. A Blood and Marrow Transplant Clinical Trials Network (BMT CTN) phase 2 trial conducted from 2008 to 2014 enrolled 30 children aged 4 to 19 years; 29 were eligible for evaluation. The primary objective was 1-year event-free survival (EFS) after HLA allele-matched (at HLA-A, -B, -C, and -DRB1 loci) unrelated donor transplant. The conditioning regimen included alemtuzumab, fludarabine, and melphalan. Graft-versus-host disease (GVHD) prophylaxis included calcineurin inhibitor, …

Functional Validation Of Novel Compound Heterozygous Variants In B3gat3 Resulting In Severe Osteopenia And Fractures: Expanding The Disease Phenotype., Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret Gibson, Sarah E. Soden, Neil A. Miller, Isabelle Thiffault, Carol J. Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara, Emily G. Farrow

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: A new disease class of syndromes, described as linkeropathies, which are derived from defects in the glycosaminoglycan-linker region as well as glycosaminoglycan-side chains of proteoglycans is increasingly being recognized as a cause of human disease. Proteoglycans are an essential component of the extracellular matrix. Defects in the enzymatic process of proteoglycan synthesis broadly occur due to the incorrect addition of side chains. Previously, homozygous missense variants within the B3GAT3 gene encoding beta 1,3 glucuronyltransferase 3(GlcAT-I) responsible for the biosynthesis of glycosaminoglycans have been described in 7 individuals.

CASE PRESENTATION: In this study, a 4-year-old patient with a severe phenotype …

Cardiovascular Disease Risk Factors And Left Ventricular Hypertrophy In Girls And Boys With Ckd., Rebecca L. Ruebner, Derek Ng, Mark Mitsnefes, Bethany J. Foster, Kevin Meyers, Bradley A. Warady, Susan L. Furth

Manuscripts, Articles, Book Chapters and Other Papers

Background and objectives: Prior studies suggested that women with CKD have higher risk for cardiovascular disease (CVD) and mortality than men, although putative mechanisms for this higher risk have not been identified. We assessed sex differences in (1) CVD risk factors and left ventricular hypertrophy (LVH), and (2) the relationship of left ventricular mass (LVM) with different measures of body size in children with CKD.

Design, setting, participants, and measurements: The study population comprised 681 children with CKD from the Chronic Kidney Disease in Children cohort, contributing 1330 visits. CVD risk factors were compared cross-sectionally by sex. LVH was defined …

Staff Responses When Parents Hit Children In A Hospital Setting., Sarah A. Font, Elizabeth T. Gershoff, Catherine A. Taylor, Amy Terreros, Monica Nielsen-Parker, Lisa Spector, Rebecca H. Foster, Ann Budzak Garza, Denyse Olson-Dorff

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Physical punishment of children is a prevalent practice that is condemned by most medical professionals given its link with increased risk of child physical abuse and other adverse child outcomes. This study examined the prevalence of parent-to-child hitting in medical settings and the intervention behaviors of staff who witness it.

METHOD: Staff at a children's medical center and a general medical center completed a voluntary, anonymous survey. We used descriptive statistics to examine differences in the experiences of physicians, nurses, and other medical staff. We used logistic regression to predict intervention behaviors among staff who witnessed parent-to-child hitting.

RESULTS: …

Flipping The Classroom: Assessment Of Strategies To Promote Student-Centered, Self-Directed Learning In A Dental School Course In Pediatric Dentistry., Brenda S Bohaty, Gloria J. Redford, Cynthia C. Gadbury-Amyot

Manuscripts, Articles, Book Chapters and Other Papers

The aim of this study was to explore student and course director experiences with the redesign of a traditional lecture-based course into a flipped classroom for teaching didactic content in pediatric dentistry to second-year dental students. The study assessed student satisfaction, extent of student engagement, overall course grades, and course director satisfaction. The students enrolled in a flipped classroom pediatric dentistry course (spring semester 2014; SP14) were asked to complete pre- and post-course questionnaires to assess their perceptions of active learning, knowledge acquisition, and course satisfaction. The process was repeated with the class enrolled in the same course the following …

Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From The Children's Oncology Group., Robert B. Gerbing, Todd A. Alonzo, Lillian Sung, Alan S. Gamis, Soheil Meshinchi, Sharon E. Plon, Alison A. Bertuch, Maria M. Gramatges

Manuscripts, Articles, Book Chapters and Other Papers

Purpose Suboptimal outcomes for children with acute myeloid leukemia (AML) necessitate maximally intensive therapy. Consequently, serious adverse events, such as prolonged periods of profound myelosuppression, contribute to AML treatment-related mortality. Telomeres, the repetitive DNA-protein structures at chromosome ends, influence cellular replicative capacity in that critically short telomeres can induce cell senescence or apoptosis. Our objective was to evaluate the impact of telomere length on duration of post-therapy neutropenia in a pediatric AML cohort. Patients and Methods Patients were diagnosed with de novo AML, enrolled in Children's Oncology Group study AAML0531, and included those with (n = 53) and without (n …

Medical Center Staff Attitudes About Spanking., Elizabeth T. Gershoff, Sarah A. Font, Catherine A. Taylor, Rebecca H. Foster, Ann Budzak Garza, Denyse Olson-Dorff, Amy Terreros, Monica Nielsen-Parker, Lisa Spector

Manuscripts, Articles, Book Chapters and Other Papers

Several medical professional organizations, including the American Academy of Pediatrics, recommend that parents avoid hitting children for disciplinary purposes (e.g., spanking) and that medical professionals advise parents to use alternative methods. The extent to which medical professionals continue to endorse spanking is unknown. This study is the first to examine attitudes about spanking among staff throughout medical settings, including non-direct care staff. A total of 2580 staff at a large general medical center and 733 staff at a children's hospital completed an online survey; respondents were roughly divided between staff who provide direct care to patients (e.g., physicians, nurses) and …

Toxic Environmental Exposures And Kidney Health In Children., Darcy K. Weidemann, Virginia M. Weaver, Jeffrey J. Fadrowski

Manuscripts, Articles, Book Chapters and Other Papers

High-level exposures to a number of agents are known to have direct nephrotoxic effects in children. A growing body of literature supports the hypothesis that chronic, relatively low-level exposure to various nephrotoxicants may also increase the risk for chronic kidney disease (CKD) or accelerate its progression. In this review we highlight several environmental nephrotoxicants and their association with CKD in children and adolescents. We also discuss unique epidemiological challenges in the use of kidney biomarkers in environmental nephrotoxicology.

Association Of Blood Pressure Variability And Neurocognition In Children With Chronic Kidney Disease., Marc B. Lande, Susan R. Mendley, Matthew B. Matheson, Shlomo Shinnar, Arlene C. Gerson, Joshua A. Samuels, Bradley A. Warady, Susan L. Furth, Stephen R. Hooper

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Children with chronic kidney disease (CKD) and hypertension have increased blood pressure variability (BPV), which has been associated with lower neurocognitive test scores in adults. Children with CKD are at risk for decreased neurocognitive function. Our objective was to determine whether children with CKD and increased BPV had worse performance on neurocognitive testing compared with children with CKD and lower BPV.

METHODS: This was a cross-sectional and longitudinal analysis of the relation between BPV and neurocognitive test performance in children ≥6 years enrolled in the Chronic Kidney Disease in Children (CKiD) study. Visit-to-visit BPV was assessed by the standard …

Ibd Live Case Series-Case 6., Dhyan Rajan, Julia B. Greer, Miguel D. Regueiro, Leonard Baidoo, David G. Binion, Hans H. Herfarth, Corey A. Siegel, Douglas J. Hartman, Francis A. Farraye, Ioannis E. Koutroubakis, Myron H. Brand, Emmanuelle D. Williams, Alka Goyal, Raymond K. Cross

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

More Than Medication: Perinatal Palliative Care., Brian S. Carter

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Association Between Prolonged Neutropenia And Reduced Relapse Risk In Pediatric Aml: A Report From The Children's Oncology Group., Lillian Sung, Richard Aplenc, Todd A. Alonzo, Robert B. Gerbing, Yi-Cheng Wang, Soheil Meshinchi, A S. Gamis

Manuscripts, Articles, Book Chapters and Other Papers

Objective was to describe the relationship between the number of sterile site infections and duration of neutropenia during the first four cycles of chemotherapy and the risk of recurrence and overall survival in children with newly diagnosed acute myeloid leukemia (AML). AAML0531 was a Children's Oncology Group randomized phase 3 clinical trial that included 1022 children with de novo AML. For this analysis, we focused on non-Down syndrome favorable and standard risk patients who completed at least 4 cycles of chemotherapy without recurrence or withdrawal during protocol therapy. Those receiving hematopoietic stem cell transplantation in first remission were excluded. Five …

Processing Information After A Child's Cancer Diagnosis-How Parents Learn., Cheryl C. Rodgers, Kristin Stegenga, Janice S. Withycombe, Karen Sachse, Katherine Patterson Kelly

Manuscripts, Articles, Book Chapters and Other Papers

Parents of a child newly diagnosed with cancer must receive an extensive amount of information before their child's initial hospital discharge; however, little is known about best practices for providing this education. An interpretive descriptive study design was used to describe actual and preferred educational content, timing, and methods among parents of children newly diagnosed with cancer prior to their child's first hospital discharge. Twenty parents of children diagnosed with various malignancies participated in individual interviews 2 to 12 months after their child's diagnosis. Data were analyzed using constant comparative analysis. Education delivery occurred in a telling manner at diagnosis …

School-Located Influenza Vaccinations: A Randomized Trial., Peter G. Szilagyi, Stanley Schaffer, Cynthia M. Rand, Phyllis Vincelli, Ashley Eagan, Nicolas P N Goldstein, A Dirk Hightower, Mary Younge, Aaron Blumkin, Christina S. Albertin, Byung-Kwang Yoo, Sharon Humiston

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Assess impact of offering school-located influenza vaccination (SLIV) clinics using both Web-based and paper consent upon overall influenza vaccination rates among elementary school children.

METHODS: We conducted a cluster-randomized trial (stratified by suburban/urban districts) in upstate New York in 2014-2015. We randomized 44 elementary schools, selected similar pairs of schools within districts, and allocated schools to SLIV versus usual care (control). Parents of children at SLIV schools were sent information and vaccination consent forms via e-mail, backpack fliers, or both (depending on school preferences) regarding school vaccine clinics. Health department nurses conducted vaccine clinics and billed insurers. For all …

A 5-Year-Old With Fever, Headache, Neck Stiffness, And Leg Pain., Joy L. Solano, Grace Winningham, Duha Al Zubeidi, Angela Myers

Manuscripts, Articles, Book Chapters and Other Papers

A 5-year-old boy presented with fever, headache, fatigue, neck stiffness, and 2 episodes of nocturnal urinary incontinence, prompting a visit to the emergency department. He had experienced intermittent frontal headaches and leg and buttock pain for several months, which had worsened over the previous 2 weeks. His history was notable for a spinal hemangioma with vascular tract, but he was otherwise healthy. On examination, he was febrile and tachycardic. He held his neck slightly rotated to the right with limited range of motion in all directions due to pain. No focal neurologic deficits were noted, and sensation and deep tendon …

Risk Factors For Sleep-Related Infant Deaths In In-Home And Out-Of-Home Settings., Hilina Kassa, Rachel Y. Moon, Jeffrey D. Colvin

Manuscripts, Articles, Book Chapters and Other Papers

Background and objective: Multiple environmental risk factors are associated with sleep-related infant deaths. Little is known about differences in risk factors for deaths occurring in-home and out-of-home. We sought to compare risk factors for in-home and out-of-home infant deaths.

Methods: We conducted a cross-sectional analysis of sleep-related infant deaths from 2004 to 2014 in the National Child Fatality Review and Prevention database. The main exposure was setting (in-home versus out-of-home) at time of death. Primary outcomes were known risk factors: sleep position, sleep location (eg, crib), objects in the environment, and bed sharing. Risk factors for in-home versus out-of-home deaths …

Parental Refusal Of Surgery In An Infant With Tricuspid Atresia., Alexander A. Kon, Angira Patel, Steven Leuthner, John Lantos

Manuscripts, Articles, Book Chapters and Other Papers

We present a case of a fetal diagnosis of tricuspid atresia (TA). The pregnant woman and her husband requested that the baby be treated with only palliative care. The cardiologist did not think it would be appropriate to withhold life-prolonging surgery once the infant was born. The neonatologist argued that outcomes for TA are similar to those for hypoplastic left heart syndrome, and the standard practice at the institution was to allow parents to choose surgery or end-of-life care for those infants. The team requested an ethics consultation to assist in determining whether forgoing life-prolonging interventions in this case would …

The Alcohol Intervention Mechanisms Scale (Aims): Preliminary Reliability And Validity Of A Common Factor Observational Rating Measure., M Magill, Timothy R. Apodaca, Justin Walthers, Jacques Gaume, Ayla Durst, Richard Longabaugh, Robert L. Stout, Kathleen M. Carroll

Manuscripts, Articles, Book Chapters and Other Papers

The present work provides an overview, and pilot reliability and validity for the Alcohol Intervention Mechanisms Scale (AIMS). The AIMS measures therapist interventions that occur broadly across modalities of behavioral treatment for alcohol use disorder. It was developed based on identified commonalities in the function rather than content of therapist interventions in observed therapy sessions, as well as from existing observer rating systems. In the AIMS, the primary function areas are: explore (four behavior count codes), teach (five behavior count codes), and connect (three behavior count codes). Therapist behavior counts provide a frequency rating of occurrence (i.e., adherence). The three …

Assessment Of Diastolic Function In Single-Ventricle Patients After The Fontan Procedure., Renee Margossian, Lynn A. Sleeper, Gail D. Pearson, Piers C. Barker, Luc Mertens, Michael D. Quartermain, Jason T. Su, Girish S. Shirali, Shan Chen, Steven D. Colan, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Patients with functional single ventricles after the Fontan procedure have abnormal cardiac mechanics. The aims of this study were to determine factors that influence diastolic function and to describe associations of diastolic function with current clinical status.

METHODS: Echocardiograms were obtained as part of the Pediatric Heart Network Fontan Cross-Sectional Study. Diastolic function grade (DFG) was assessed as normal (grade 0), impaired relaxation (grade 1), pseudonymization (grade 2), or restrictive (grade 3). Studies were also classified dichotomously (restrictive pattern present or absent). Relationships between DFG and pre-Fontan variables (e.g., ventricular morphology, age at Fontan, history of volume-unloading surgery) and …

Ambivalence: Prerequisite For Success In Motivational Interviewing With Adolescents?, Sarah W. Feldstein Ewing, Timothy R. Apodaca, Jacques Gaume

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND AIMS: The exploration and resolution of ambivalence play an essential role in motivational interviewing (MI) theory. However, most adolescent MI studies have not examined ambivalence as a contributor to behaviour change. This paper reviewed research findings on the role of ambivalence in the adolescent change process.

METHODS AND RESULTS: We undertook a narrative review of the published empirical and theoretical literature on ambivalence and mechanisms of change in MI for adolescents and found that current MI evaluations appear not to have access to reliable and valid measures of ambivalence in adolescence or neuroimaging methods to evaluate the mechanisms …

The Influence Of Age On The Diagnostic Performance Of White Blood Cell Count And Absolute Neutrophil Count In Suspected Pediatric Appendicitis., Richard G. Bachur, Peter S. Dayan, Nanette C. Dudley, Lalit Bajaj, Michelle D. Stevenson, Charles G. Macias, Manoj K. Mittal, Jonathan Bennett, Kelly A. Sinclair, Michael C. Monuteaux, Anupam B. Kharbanda

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: White blood cell (WBC) count and absolute neutrophil count (ANC) are a standard part of the evaluation of suspected appendicitis. Specific threshold values are utilized in clinical pathways, but the discriminatory value of WBC count and ANC may vary by age. The objective of this study was to investigate whether the diagnostic value of WBC count and ANC varies across age groups and whether diagnostic thresholds should be age-adjusted.

METHODS: This is a multicenter prospective observational study of patients aged 3-18 years who were evaluated for appendicitis. Receiver operator characteristic curves were developed to assess overall discriminative power of …

Racial Differences In Renal Replacement Therapy Initiation Among Children With A Nonglomerular Cause Of Chronic Kidney Disease., Derek K. Ng, Marva Moxey-Mims, Bradley A. Warady, Susan L. Furth, Alvaro Muñoz

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: African American (AA) adults with chronic kidney disease (CKD) have a faster progression to end-stage renal disease and are less likely to receive a kidney transplant. It is unclear whether AA children experience renal replacement therapy (RRT) for end-stage renal disease sooner than non-AA children after accounting for socioeconomic status (SES).

METHODS: Among children with nonglomerular CKD in the Chronic Kidney Disease in Children study, we investigated time to RRT (i.e., first dialysis or transplant) after CKD onset using parametric survival models and accounted for SES differences by inverse probability weights.

RESULTS: Of 110 AA and 493 non-AA children …

The Supply And Demand Of The Cardiovascular Workforce: Striking The Right Balance., Akhil Narang, Shashank S. Sinha, Bharath Rajagopalan, Nkechinyere N. Ijioma, Natalie Jayaram, Aaron P. Kithcart, Varsha K. Tanguturi, Michael W. Cullen

Manuscripts, Articles, Book Chapters and Other Papers

As the burden of cardiovascular disease in the United States continues to increase, uncertainty remains on how well-equipped the cardiovascular workforce is to meet the challenges that lie ahead. In a time when health care is rapidly shifting, numerous factors affect the supply and demand of the cardiovascular workforce. This Council Commentary critically examines several factors that influence the cardiovascular workforce. These include current workforce demographics and projections, evolving health care and practice environments, and the increasing burden of cardiovascular disease. Finally, we propose 3 strategies to optimize the workforce. These focus on cardiovascular disease prevention, the effective utilization of …

Biallelic Mutations In Tbcd, Encoding The Tubulin Folding Cofactor D, Perturb Microtubule Dynamics And Cause Early-Onset Encephalopathy., Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret G. Au, Alessandro Capuano, Emanuela Piermarini, Anna A. Ivanova, Joshua W. Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A. Haaxma, Andrea Ciolfi, Simone Pizzi, Ganka V. Douglas, Kara Levine, Antonella Sferra, Maria Lisa Dentici, Rolph R. Pfundt, Jean-Baptist Lepichon, Emily G. Farrow, Frank Baas, Fiorella Piemonte, Bruno Dallapiccola, John M. Graham, Carol J. Saunders, Enrico Bertini, Richard A. Kahn, David A. Koolen, Marco Tartaglia

Manuscripts, Articles, Book Chapters and Other Papers

Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of neuronal processes, including cell division, migration, polarity, intracellular trafficking, and signal transduction. Mutations in genes encoding tubulins and microtubule-associated proteins are known to cause neurodevelopmental and neurodegenerative disorders. Growing evidence suggests that altered microtubule dynamics may also underlie or contribute to neurodevelopmental disorders and neurodegeneration. We report that biallelic mutations in TBCD, encoding one of the five co-chaperones required for assembly and disassembly of the αβ-tubulin heterodimer, the structural unit of microtubules, cause a disease with neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin …

Inside Pediatrics Wins Emmy Award . . . Again!, Children's Mercy Hospital

Our Story Continues

'The Heart of Children's Mercy' garners hospital's second trophy for programming excellence.

Once again, Inside Pediatrics has been recognized with a prestigious Emmy award for outstanding programming by the National Academy of Television Arts and Sciences. At the awards event Saturday night, the fifth episode (titled “The Heart of Children’s Mercy”) of the show’s second season won for Best Public/Current/Community Affairs Program or Special.

Last year, Season 1 of Inside Pediatrics won an Emmy in the same category.