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1.
Case Rep Endocrinol ; 2017: 4271978, 2017.
Article in English | MEDLINE | ID: mdl-28638668

ABSTRACT

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height.

2.
R I Med J (2013) ; 100(2): 21-24, 2017 Feb 01.
Article in English | MEDLINE | ID: mdl-28146595

ABSTRACT

BACKGROUND: This study compared outcomes and costs for new-onset Type 1 diabetes mellitus (T1DM) patients educated at the outpatient versus inpatient settings. METHODS/DESIGN: Retrospective study examining the following variables: 1) hemoglobin A1c (HbA1c), 2) severe hypoglycemia, 3) admissions for diabetic ketoacidosis (DKA) or ER visits, and 4) healthcare cost. RESULTS: 152 patients with new-onset T1DM from September 2007-August 2009. There were no differences between outpatient group (OG) and inpatient group (IG) in mean HbA1c levels at 1, 2 and 3 years post-diagnosis (OG 8%, 8.5%, 9.3%; IG 8.3%, 8.9%, 9%, p=0.51). Episodes of severe hypoglycemia, DKA, and ER visits were not different between the two groups. Mean total hospital costs for OG and pure OG were significantly less than IG (OG: $2886 vs. IG: $4925, p<0.001), (pure OG: $1044 vs. IG: $4925, p<0.0001). CONCLUSION: Our study demonstrates that outpatient- based pediatric diabetes education lowers healthcare cost without compromising medical outcomes. [Full article available at http://rimed.org/rimedicaljournal-2017-02.asp].


Subject(s)
Diabetes Mellitus, Type 1/economics , Inpatients/education , Outpatients/education , Patient Education as Topic/economics , Adolescent , Child , Diabetes Mellitus, Type 1/therapy , Diabetic Ketoacidosis/diagnosis , Female , Glycated Hemoglobin/analysis , Health Care Costs , Hospitalization , Hospitals , Humans , Hypoglycemia/diagnosis , Male , Retrospective Studies , Rhode Island
3.
Blood ; 112(5): 1931-41, 2008 Sep 01.
Article in English | MEDLINE | ID: mdl-18567838

ABSTRACT

Primary systemic amyloidosis (AL) is a rare monoclonal plasma cell (PC) disorder characterized by the deposition of misfolded immunoglobulin (Ig) light chains (LC) in vital organs throughout the body. To our knowledge, no cell lines have ever been established from AL patients. Here we describe the establishment of the ALMC-1 and ALMC-2 cell lines from an AL patient. Both cell lines exhibit a PC phenotype and display cytokine-dependent growth. Using a comprehensive genetic approach, we established the genetic relationship between the cell lines and the primary patient cells, and we were also able to identify new genetic changes accompanying tumor progression that may explain the natural history of this patient's disease. Importantly, we demonstrate that free lambda LC secreted by both cell lines contained a beta structure and formed amyloid fibrils. Despite absolute Ig LC variable gene sequence identity, the proteins show differences in amyloid formation kinetics that are abolished by the presence of Na(2)SO(4). The formation of amyloid fibrils from these naturally secreting human LC cell lines is unprecedented. Moreover, these cell lines will provide an invaluable tool to better understand AL, from the combined perspectives of amyloidogenic protein structure and amyloid formation, genetics, and cell biology.


Subject(s)
Amyloid/biosynthesis , Amyloidosis/genetics , Amyloidosis/immunology , Immunoglobulin lambda-Chains/biosynthesis , Amino Acid Sequence , Amyloid/chemistry , Amyloid/ultrastructure , Amyloidosis/pathology , Base Sequence , Cell Line , Chromosome Aberrations , Cytokines/pharmacology , DNA Primers/genetics , Female , Genes, Immunoglobulin , Humans , Immunoglobulin lambda-Chains/chemistry , Immunoglobulin lambda-Chains/genetics , In Situ Hybridization, Fluorescence , Microscopy, Electron, Transmission , Middle Aged , Models, Molecular , Molecular Sequence Data , Oligonucleotide Array Sequence Analysis , Plasma Cells/drug effects , Plasma Cells/immunology , Plasma Cells/metabolism , Plasma Cells/pathology , Protein Conformation , Sequence Homology, Amino Acid
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