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Article ; Online: The biochemical village: How it can flourish and thrive.

Regier, Debra S

2020 Volume 130, Issue 3, Page(s) 162–163

MeSH term(s)	Biochemistry ; Delivery of Health Care/statistics & numerical data ; Humans ; Molecular Biology ; Organizational Innovation
Language	English
Publishing date	2020-05-15
Publishing country	United States
Document type	Editorial
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2020.05.004
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Article ; Online: The clinical geneticist workforce: Community forums to address challenges and opportunities.

Chung, Wendy K / Dasgupta, Shoumita / Regier, Debra S / Solomon, Benjamin D

Genetics in medicine : official journal of the American College of Medical Genetics

2024 Volume 26, Issue 6, Page(s) 101121

Language	English
Publishing date	2024-03-09
Publishing country	United States
Document type	Editorial
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2024.101121
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Article: LPIN1

Kanderi, Navya / Kirmse, Brian / Regier, Debra S / Chapman, Kimberly A

Molecular genetics and metabolism reports

2022 Volume 30, Page(s) 100844

Abstract: Individuals ... ...

Abstract	Individuals with
Language	English
Publishing date	2022-02-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2022.100844
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Article ; Online: LPIN1 rhabdomyolysis

Navya Kanderi / Brian Kirmse / Debra S. Regier / Kimberly A. Chapman

Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100844- (2022)

A single site cohort description and treatment recommendations

2022

Abstract: Individuals with LPIN1 deficiency have early recurrent, life-threatening rhabdomyolysis but the full phenotypic spectrum and optimal treatment of the disorder remains unknown. Here we report the clinical details and treatment outcomes of 6 patients from ... ...

Abstract	Individuals with LPIN1 deficiency have early recurrent, life-threatening rhabdomyolysis but the full phenotypic spectrum and optimal treatment of the disorder remains unknown. Here we report the clinical details and treatment outcomes of 6 patients from our health system. The average age of presentation in our cohort was 23.8 months ±11.6 months (range 15–46 months). The average number of days for each hospitalization for this cohort is 11.7±13.2 days. Creatinine kinase (CK) levels peak during our care averaged 607,725 units/L (range 157,000-1,100,000 units/L). We observed that aspartate aminotransferase levels paralleled the CK levels in its elevation and resolution (Pearson's correlation R = 0.995); while alanine aminotransferase paralleled the elevation but lagged in the resolution of CK levels (R = 0.728). Unlike historical accounts, in our patient population, rhabdomyolysis was sometimes seen without inciting viral or traumatic events. We also cared for multiple individuals that had received treatment at other centers. This allowed us to compare multiple practice approaches and led to a standardized Care Recommendations.
Keywords	LPIN1 ; Rhabdomyolysis ; Medicine (General) ; R5-920 ; Biology (General) ; QH301-705.5
Language	English
Publishing date	2022-03-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Medical genetics education in the midst of the COVID-19 pandemic: Shared resources.

Regier, Debra S / Smith, Wendy E / Byers, Heather M

American journal of medical genetics. Part A

2020 Volume 182, Issue 6, Page(s) 1302–1308

Abstract: In the midst of the COVID-19 pandemic, it is appropriate that our focus is on patient care and preparation. However, the genetics community is well poised to fill in the educational gap created by medical students transitioning to limiting patient ... ...

Abstract	In the midst of the COVID-19 pandemic, it is appropriate that our focus is on patient care and preparation. However, the genetics community is well poised to fill in the educational gap created by medical students transitioning to limiting patient contact, creation of telemedicine patient care, and online learning modules. Our history of agility in learning and teaching is now only inhibited by the time constraints of current clinical demands on the genetics community. This publication is designed to offer ideas and resources for quickly transitioning our education to meet the current demands in the time of a pandemic. Not only will this allow us to continue our strong history of education, it will enhance our strong commitment to using modern educational techniques and tools to address the genetics workforce issues that have defined the recent past. We have the opportunity to aggressively educate for trainees that now have the capacity to learn, and to lead the way in showing how the genetics community rallies together no matter the challenge.
MeSH term(s)	Audiovisual Aids/supply & distribution ; Betacoronavirus/pathogenicity ; COVID-19 ; Containment of Biohazards/methods ; Coronavirus Infections/diagnosis ; Coronavirus Infections/epidemiology ; Coronavirus Infections/psychology ; Coronavirus Infections/transmission ; Education, Distance/organization & administration ; Education, Medical, Graduate/organization & administration ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/epidemiology ; Genetics, Medical/education ; Humans ; Pandemics ; Pneumonia, Viral/diagnosis ; Pneumonia, Viral/epidemiology ; Pneumonia, Viral/psychology ; Pneumonia, Viral/transmission ; Public Health/methods ; SARS-CoV-2 ; Students, Medical/psychology ; Telemedicine/methods
Keywords	covid19
Language	English
Publishing date	2020-04-23
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.61595
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Article ; Online: The past, present, and future of child growth monitoring: A review and primer for clinical genetics.

Shur, Natasha / Tigranyan, Annie / Daymont, Carrie / Regier, Debra S / Raturi, Sumant / Roshan Lal, Tamanna / Cleary, Kevin / Summar, Marshall

American journal of medical genetics. Part A

2023 Volume 191, Issue 4, Page(s) 948–961

Abstract: Child growth measurements are critical vital signs to track, with every individual child growth curve potentially revealing a story about a child's health and well-being. Simply put, every baby born requires basic building blocks to grow and thrive: ... ...

Abstract	Child growth measurements are critical vital signs to track, with every individual child growth curve potentially revealing a story about a child's health and well-being. Simply put, every baby born requires basic building blocks to grow and thrive: proper nutrition, love and care, and medical health. To ensure that every child who is missing one of these vital aspects is identified, growth is traditionally measured at birth and each well-child visit. While the blue and pink growth curves appear omnipresent in pediatric clinics, it is surprising to realize that their use only became standard of care in 1977 when the National Center for Health Statistics (NCHS) adopted the growth curve as a clinical tool for health. Behind this practice lies a socioeconomically, culturally, and politically complex interplay of individuals and institutions around the world. In this review, we highlight the often forgotten past, current state of practice, and future potential of this powerful clinical tool: the growth reference chart, with a particular focus on clinical genetics practice. The goal of this article is to understand ongoing work in the field of anthropometry (the scientific study of human measurements) and its direct impact on modern pediatric and genetic patient care.
MeSH term(s)	Infant ; Infant, Newborn ; Child ; Humans ; Child Development ; Nutritional Status ; Anthropometry
Language	English
Publishing date	2023-01-28
Publishing country	United States
Document type	Review ; Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63102
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Article ; Online: Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum.

Bosfield, Kerri / Albert, Jessica / Cheng, Nancy / Swaringer, Tiffany / Cusmano-Ozog, Kristina / Regier, Debra S

Genetics in medicine : official journal of the American College of Medical Genetics

2022 Volume 25, Issue 2, Page(s) 100340

Abstract: ... released and availability of laboratory director(s), resulting in inconsistent learning opportunities ... characteristics of the gene(s) implicated. Learner assessment is performed using pre- and post-tests, learner ...

Abstract	Purpose: A biochemical genetics laboratory rotation is required for multiple genetics training programs. Traditionally, this rotation has been observational with experience being dependent upon cases released and availability of laboratory director(s), resulting in inconsistent learning opportunities. This curriculum was created to standardize the learning experience. Methods: The revised rotation provides multiple teaching modalities including small group didactic sessions (flipped classroom model), case-based sessions, and hands-on laboratory experience. Trainees prepare a presentation (learning by teaching) and discuss the differential diagnosis, metabolic pathway, newborn screening, treatment, and molecular characteristics of the gene(s) implicated. Learner assessment is performed using pre- and post-tests, learner evaluations, and instructor feedback. Results: Pre- and post-test scores were significantly different (P < .001) for learners from all programs. Participants found the course to be effective, increased their learning, and allowed them to interact with metabolic testing results in helpful ways. Faculty appreciated the use of prerecorded lectures and additional time for in-depth teaching on interesting cases. Conclusion: The revised rotation has been well received by trainees and faculty. Interaction of learners with the laboratory staff was optimized by ensuring all parties were prepared to teach and learn. Future directions include expanding the program to include remote learners from other centers.
MeSH term(s)	Infant, Newborn ; Humans ; Rotation ; Curriculum ; Learning ; Molecular Biology
Language	English
Publishing date	2022-12-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2022.11.008
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Article: Maple syrup urine disease decompensation misdiagnosed as a psychotic event.

Higashimoto, Tomoyasu / Whitehead, Matthew T / MacLeod, Erin / Starin, Danielle / Regier, Debra S

Molecular genetics and metabolism reports

2022 Volume 32, Page(s) 100886

Abstract: Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease resulting in impaired or absent breakdown of branched-chain amino acids (BCAA) valine, isoleucine, and leucine. Classic MSUD often presents in post-natal periods, at times ... ...

Abstract	Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease resulting in impaired or absent breakdown of branched-chain amino acids (BCAA) valine, isoleucine, and leucine. Classic MSUD often presents in post-natal periods, at times before newborn screening results, and is treated with a protein restricted diet supplemented with medical food and close follow up to prevent toxic buildup of blood leucine. Acute episodes of decompensation are prevented by early recognition and treatment. Acute episodes of metabolic decompensation in patients with MSUD are medical emergencies that require immediate treatments as cerebral edema may lead to brain-stem compression resulting in death. As the early outcomes improve for MSUD patients, the long-term sequelae of chronic hyperleucemia are being elucidated and include cognitive impairment, mental health disorders, and movement disorders. In this report we present an adult patient with MSUD with attention deficit, hyperactivity type (ADHD) and depression due to prolonged exposure to elevated leucine managed with community support services who presented to the emergency department with new onset of acute hallucinations. He was held in the emergency department awaiting involuntary commitment to a psychiatric facility and underwent psychiatric treatments for suspected new onset hallucinations without improvement. Upon notification of metabolic specialists and initiation of appropriate therapy of MSUD, his leucine level normalized rapidly with resolution of his acute psychosis. This case describes the acute presentation of psychosis in the setting of long-term toxicity of leucine. This case also highlights the importance of transition of care, education and planning in patients with inborn errors of metabolism.
Language	English
Publishing date	2022-06-18
Publishing country	United States
Document type	Case Reports
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2022.100886
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Article: Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates.

Regier, Debra S / Bąk, Agata / Bausell, Heather / O'Reilly, Emer / Cowsert, Lex M

Molecular genetics and metabolism reports

2022 Volume 31, Page(s) 100855

Abstract: Phenylketonuria (PKU) is a rare genetic condition caused by inborn error(s) in the gene ...

Abstract	Phenylketonuria (PKU) is a rare genetic condition caused by inborn error(s) in the gene for the enzyme phenylalanine hydroxylase. Resulting loss of phenylalanine (Phe) metabolism requires strict dietary therapy and/or medication to prevent toxic accumulation of Phe. Novel investigational therapies, including gene therapies that aim to address underlying causes of PKU, are now entering clinical trials. However, perceptions of this technology in the PKU community have not been assessed. We conducted a qualitative survey recruiting adult patients, caregivers, and patient advocates from the US and 3 EU countries to assess the impact of living with PKU and the perceptions of gene therapy. Telephone interviews were conducted for up to 60 min following a standardized discussion guide. Interviewers classified each participant by their level of knowledge regarding gene therapy as either: low (little or no prior awareness); moderate (awareness of gene therapy as a concept in PKU); or high (working knowledge of gene therapy, e.g., vectors). In total, 33 participants were recruited (patients, n = 24; caregivers, n = 5; advocates, n = 4). The patient sample was well balanced among age groups, sex, and US/EU geographies. The participants' experiences and burden of living with PKU were largely negative, characterized by frustrations with current management consistent with prior reports. Most participants (n = 18/33) were identified as displaying moderate gene-therapy knowledge, 10/33 as displaying high knowledge, and 5/33 as displaying low knowledge. Both positive and negative perceptions were observed; positive perceptions were often linked to "hope" that gene therapy may represent a cure, whereas negative perceptions were linked to the "uncertainty" of outcomes. High knowledge of gene therapy appeared to trend with negative perceptions; 7/10 participants from this group reported high levels of concern over gene therapy. In contrast, participants who displayed low knowledge reported low (n = 3/5) or moderate (n = 2/5) concern, with predominantly positive perceptions. These data highlight the need for education around the theoretical risk:benefit profile of gene therapy. Despite current unknowns around gene therapy, our study demonstrates the important role of healthcare providers as educators who can use available data to provide balanced information to patients and caregivers.
Language	English
Publishing date	2022-03-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2022.100855
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Article ; Online: Maple syrup urine disease decompensation misdiagnosed as a psychotic event

Tomoyasu Higashimoto / Matthew T. Whitehead / Erin MacLeod / Danielle Starin / Debra S. Regier

Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100886- (2022)

2022

Abstract	Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease resulting in impaired or absent breakdown of branched-chain amino acids (BCAA) valine, isoleucine, and leucine. Classic MSUD often presents in post-natal periods, at times before newborn screening results, and is treated with a protein restricted diet supplemented with medical food and close follow up to prevent toxic buildup of blood leucine.Acute episodes of decompensation are prevented by early recognition and treatment. Acute episodes of metabolic decompensation in patients with MSUD are medical emergencies that require immediate treatments as cerebral edema may lead to brain-stem compression resulting in death. As the early outcomes improve for MSUD patients, the long-term sequelae of chronic hyperleucemia are being elucidated and include cognitive impairment, mental health disorders, and movement disorders.In this report we present an adult patient with MSUD with attention deficit, hyperactivity type (ADHD) and depression due to prolonged exposure to elevated leucine managed with community support services who presented to the emergency department with new onset of acute hallucinations. He was held in the emergency department awaiting involuntary commitment to a psychiatric facility and underwent psychiatric treatments for suspected new onset hallucinations without improvement. Upon notification of metabolic specialists and initiation of appropriate therapy of MSUD, his leucine level normalized rapidly with resolution of his acute psychosis.This case describes the acute presentation of psychosis in the setting of long-term toxicity of leucine. This case also highlights the importance of transition of care, education and planning in patients with inborn errors of metabolism.
Keywords	Maple syrup urine disease ; Branched-chain α-ketoacid dehydrogenase enzyme complex ; Branched-chain amino acids ; Transition of care ; Medicine (General) ; R5-920 ; Biology (General) ; QH301-705.5
Subject code	610
Language	English
Publishing date	2022-09-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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