Persistent Hyperinsulinemic Hypoglycemia in Infancy-A Case Report

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is one of the commonest reasons for severe, intractable hypoglycemia in neonates. Dysregulated insulin secretion is the major underlying pathogenesis which results in hyperinsulinemia, hypoketonemia and hypofatty acidemia. The management is extremely complicated. Early diagnosis and aggressive management of hyperinsulinemic hypoglycemia is essential for prevention of hypoglycemia induced neuronal injury. Here we describe a baby diagnosed as PHHI who was unresponsive to medical management with diazoxide and underwent near total pancreatectomy. Genetic work up revealed a homozygous termination mutation in ABCC8 gene at amino acid position 1452 with heterozygosity in both parents.

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4-Hydroxyisoleucine: a novel amino acid potentiator of insulin secretion

Diabetes ◽

10.2337/diabetes.47.2.206 ◽

1998 ◽

Vol 47 (2) ◽

pp. 206-210 ◽

Cited By ~ 55

Author(s):

Y. Sauvaire ◽

P. Petit ◽

C. Broca ◽

M. Manteghetti ◽

Y. Baissac ◽

...

Keyword(s):

Insulin Secretion ◽

Amino Acid

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A Novel Amino Acid Sequence-based Computational Approach to Predicting Cell-penetrating Peptides

Current Computer - Aided Drug Design ◽

10.2174/1573409914666180925100355 ◽

2019 ◽

Vol 15 (3) ◽

pp. 206-211 ◽

Cited By ~ 2

Author(s):

Jihui Tang ◽

Jie Ning ◽

Xiaoyan Liu ◽

Baoming Wu ◽

Rongfeng Hu

Keyword(s):

Machine Learning ◽

Amino Acid ◽

Amino Acid Position ◽

Cell Penetrating Peptides ◽

Support Vector ◽

Cell Penetration ◽

Drug Candidates ◽

Machine Learning Model ◽

Cell Penetrating ◽

Novel Method

Introduction: Machine Learning is a useful tool for the prediction of cell-penetration compounds as drug candidates. Materials and Methods: In this study, we developed a novel method for predicting Cell-Penetrating Peptides (CPPs) membrane penetrating capability. For this, we used orthogonal encoding to encode amino acid and each amino acid position as one variable. Then a software of IBM spss modeler and a dataset including 533 CPPs, were used for model screening. Results: The results indicated that the machine learning model of Support Vector Machine (SVM) was suitable for predicting membrane penetrating capability. For improvement, the three CPPs with the most longer lengths were used to predict CPPs. The penetration capability can be predicted with an accuracy of close to 95%. Conclusion: All the results indicated that by using amino acid position as a variable can be a perspective method for predicting CPPs membrane penetrating capability.

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Drosophila kinesin motor domain extending to amino acid position 392 is dimeric when expressed in Escherichia coli.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)31692-2 ◽

1994 ◽

Vol 269 (51) ◽

pp. 32708

Author(s):

T G Huang ◽

J Suhan ◽

D D Hackney

Keyword(s):

Escherichia Coli ◽

Amino Acid ◽

Amino Acid Position ◽

Motor Domain ◽

Kinesin Motor

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Death of unknown cause? Post-mortem diagnosis of fulminant course of an EBV-associated secondary hemophagocytic lymphohistiocytosis

memo - Magazine of European Medical Oncology ◽

10.1007/s12254-021-00701-9 ◽

2021 ◽

Author(s):

Josia Fauser ◽

Stefan Köck ◽

Eberhard Gunsilius ◽

Andreas Chott ◽

Andreas Peer ◽

...

Keyword(s):

Immune Response ◽

Case Report ◽

Macrophage Activation ◽

Post Mortem ◽

Life Threatening ◽

Appropriate Therapy ◽

Diagnostic Work ◽

Work Up ◽

Diagnostic Work Up ◽

Secondary Hemophagocytic Lymphohistiocytosis

SummaryHLH is a life-threatening disease, which is characterized by a dysregulated immune response with uncontrolled T cell and macrophage activation. The often fulminant course of the disease needs a fast diagnostic work-up to initiate as soon as possible the appropriate therapy. We present herein the case of a 71-year-old patient with rapidly progressive hyperinflammatory syndrome, which post mortem resulted in the diagnosis of EBV-associated HLH. With this case report, we intend to highlight the relevance of the HScore in the diagnosis of HLH, to create a greater awareness for EBV as a trigger of HLH, and to demonstrate the importance of treating EBV-associated HLH as early as possible.

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