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  1. Article ; Online: Pseudo-hypertriglyceridemia in a 2-year-old male with global developmental delay, myopathy and adrenal hypoplasia.

    Fu, Xiaowei / Williamson, Claire P / Bosfield, Kerri

    Journal of mass spectrometry and advances in the clinical lab

    2024  Volume 32, Page(s) 47–49

    Abstract: Pseudo-hypertriglyceridemia is an overestimation of serum triglyceride levels due to laboratory assays that measure free glycerol concentrations instead of triglycerides directly. Consequently, conditions presenting with elevated levels of endogenous or ... ...

    Abstract Pseudo-hypertriglyceridemia is an overestimation of serum triglyceride levels due to laboratory assays that measure free glycerol concentrations instead of triglycerides directly. Consequently, conditions presenting with elevated levels of endogenous or exogenous free glycerol, such as glycerol kinase deficiency, result in an overestimation of serum triglycerides. Glycerol kinase deficiency (GKD) is caused by pathogenic variants of the
    Language English
    Publishing date 2024-02-20
    Publishing country Netherlands
    Document type Case Reports
    ISSN 2667-145X
    ISSN (online) 2667-145X
    DOI 10.1016/j.jmsacl.2024.02.004
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  2. Article: Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature.

    Bosfield, Kerri / Diaz, Jullianne / Leon, Eyby

    Molecular syndromology

    2021  Volume 12, Issue 3, Page(s) 159–168

    Abstract: Pure distal duplications of 7q have rarely been described in the medical literature. The term pure refers to duplications that occur without an accompanying clinically significant deletion. Pure 7q duplications of various segments have previously been ... ...

    Abstract Pure distal duplications of 7q have rarely been described in the medical literature. The term pure refers to duplications that occur without an accompanying clinically significant deletion. Pure 7q duplications of various segments have previously been reported in the literature; however, pure distal 7q duplications have only been reported in 21 cases. Twenty of these earlier reports described patients who were identified via karyotype and 1 recently by microarray. Cases have also been reported in genomic databases such as DECIPHER and the University of California Santa Cruz genome browser. We have reviewed 7 additional cases with distal 7q duplications from these databases and compared them to 7 previously reported distal 7q duplication cases to uncover common features including global developmental delay, frontal bossing, macrocephaly, seizures, kyphoscoliosis/skeletal anomalies, and microretrognathia/palatal anomalies. In this case, we describe a 4-year-old boy with a 30.8-Mb pure duplication of 7q32.1q36.3. Newly reported features associated with this duplication include intermittent dystonic posturing, increased behavioral irritability, eosinophilic esophagitis, segmental vertebral anomalies, and segmental intermittent limb cyanosis. We highlight the importance of using publicly available databases to describe rare genetic syndromes and to better characterize the features of pure distal 7q duplications and further postulate that duplication of this region represents a recognizable macrocephalic neurodevelopmental syndrome.
    Language English
    Publishing date 2021-03-29
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2546218-0
    ISSN 1661-8777 ; 1661-8769
    ISSN (online) 1661-8777
    ISSN 1661-8769
    DOI 10.1159/000513453
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  3. 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: 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), ... ...

    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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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5059: Show issues Location:
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    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article: Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis.

    Alqarajeh, Firas / Omorodion, Jacklyn / Bosfield, Kerri / Shur, Natasha / Ferreira, Carlos R

    Translational science of rare diseases

    2020  Volume 5, Issue 1-2, Page(s) 81–86

    Abstract: Background: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder characterized by deficient membrane transport of cationic amino acids. It is caused by pathogenic variants in SLC7A7, resulting in impairment of intestinal import and ...

    Abstract Background: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder characterized by deficient membrane transport of cationic amino acids. It is caused by pathogenic variants in SLC7A7, resulting in impairment of intestinal import and renal proximal tubule loss of the affected amino acids. LPI typically presents with gastrointestinal symptoms, such as vomiting, diarrhea, and failure to thrive.
    Case report: A 4-year-old African-American boy presented with multiple respiratory tract infections, weight loss in the setting of chronic diarrhea and worsening abdominal distention, and multiple episodes of rectal prolapse. Development was unaffected. Laboratory examination demonstrated mild anemia, hypokalemia and hypoalbuminemia, transaminitis, and normal ammonia. Initial urine amino acid analysis did not show major elevations of lysine and ornithine, often lower than expected in the setting of malnutrition. Upon initiation of total parenteral nutrition (TPN), his urine amino acids showed a characteristic profile of dibasic aminoaciduria.
    Conclusions: Failure to thrive, chronic diarrhea, and hepatomegaly should raise suspicion for LPI. Urine amino acids can be normal in this condition in the setting of malnutrition, a common complication of the disease. Additionally, it has been previously shown that the plasma arginine and ornithine concentration is higher in LPI subjects.
    Language English
    Publishing date 2020-08-03
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2900592-9
    ISSN 2214-6512 ; 2214-6490
    ISSN (online) 2214-6512
    ISSN 2214-6490
    DOI 10.3233/TRD-190035
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  5. Article ; Online: Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.

    Bosfield, Kerri / Regier, Debra S / Viall, Sarah / Hicks, Rebecca / Shur, Natasha / Grant, Christina L

    American journal of medical genetics. Part A

    2020  Volume 185, Issue 1, Page(s) 134–140

    Abstract: Mucopolysaccharidosis type I (MPS I)/Hurler syndrome newborn screening was added to the recommended uniform screening panel (RUSP) in 2016. As states have added screening for MPS I, programs have reported increased rates of false positives. Reasons for ... ...

    Abstract Mucopolysaccharidosis type I (MPS I)/Hurler syndrome newborn screening was added to the recommended uniform screening panel (RUSP) in 2016. As states have added screening for MPS I, programs have reported increased rates of false positives. Reasons for false positive screens include carrier status, true false positive, late-onset/attenuated forms, and in about half of cases, pseudodeficiency alleles. These alleles have DNA variants that can cause falsely decreased enzyme activity on biochemical enzyme studies and have increased frequency in individuals of African American and African descent. We describe the District of Columbia (DC) experience with MPS I screening from December 2017 to February 2019. In the context of a review of the literature on newborn screening and family experiences and this DC-based experience, we offer potential solutions to address preliminary concerns regarding this screening. The impact of overrepresentation of screen positives in a minority group and unintentional creation of health disparities and community wariness regarding medical genetics evaluations must be considered to improve the newborn screen programs nationally and internationally.
    MeSH term(s) African Americans/genetics ; Alleles ; Dried Blood Spot Testing ; Ethnic Groups/genetics ; Female ; Humans ; Infant, Newborn ; Male ; Mucopolysaccharidosis I/diagnosis ; Mucopolysaccharidosis I/epidemiology ; Mucopolysaccharidosis I/genetics ; Mucopolysaccharidosis I/pathology ; Neonatal Screening
    Language English
    Publishing date 2020-10-24
    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.61930
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/A: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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