Article
Endocrinology & Metabolism
Chisa Inoue, Kota Nishihama, Aoi Hayasaki, Yuko Okano, Akinobu Hayashi, Kazuhito Eguchi, Mei Uemura, Toshinari Suzuki, Taro Yasuma, Takeshi Inoue, Tohru Yorifuji, Shugo Mizuno, Esteban C. Gabazza, Yutaka Yano
Summary: The patient is a 28-year-old Japanese man diagnosed with severe congenital hyperinsulinemic-hypoglycemia. He developed necrotizing acute pancreatitis at 28 years of age, which was thought to be caused by diazoxide. After surgery, his hypoglycemia improved.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Geriatrics & Gerontology
Li-Ping Wang, Jieli Geng, Chang Liu, Yuyang Wang, Zhijun Zhang, Guo-Yuan Yang
Summary: Recent clinical studies have shown an increased incidence of neurobehavioral disorders in patients with diabetes mellitus. The severity of diabetes is associated with the progression of white matter hyperintensity on brain imaging, which increases the risk of cognitive impairment. This study investigated whether hyperglycemia-induced neurological deficits are related to dysfunction of oligodendrocyte precursor cells.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Otorhinolaryngology
Asa Bonnard, Cecilia Engmer Berglin, Josephine Wincent, Per Olof Eriksson, Eva Westman, Maria Feychting, Hanna Mogensen
Summary: This study using nationwide register data in Sweden suggests that the risk of cholesteatoma in the middle ear is strongly associated with a family history of the condition. However, family history is rare and can only explain a limited number of cases, making families an important source of information regarding the genetic background of cholesteatoma disease.
JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY
(2023)
Article
Endocrinology & Metabolism
Anthony L. McCall, David C. Lieb, Roma Gianchandani, Heidemarie MacMaster, Gregory A. Maynard, M. Hassan Murad, Elizabeth Seaquist, Joseph Wolfsdorf, Robin Fein Wright, Wojtek Wiercioch
Summary: This study reviewed and updated the management of hypoglycemia in people with diabetes, aiming to reduce and prevent it. A multidisciplinary panel of experts identified 10 clinical questions and made 10 recommendations. These recommendations can be used to inform clinical practice and improve healthcare systems, as hypoglycemia is an important complication for people with diabetes.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Psychiatry
Erica L. Karp, Trevor F. Williams, Lauren M. Ellman, Gregory P. Strauss, Elaine F. Walker, Philip R. Corlett, Scott W. Woods, Albert R. Powers, James M. Gold, Jason E. Schiffman, James A. Waltz, Steven M. Silverstein, Vijay A. Mittal
Summary: This study investigated self-reported gesture interpretation and performance in individuals at clinical high risk for psychosis, those with internalizing disorders, and healthy controls. The results showed that the clinical high-risk group had significantly lower scores in self-reported gesture interpretation compared to the other two groups, while there were no differences in gesture performance among the three groups. Within the clinical high-risk group, greater deficits in gesture performance were associated with lower verbal learning and memory, and gesture deficits were also linked to higher cross-sectional risk for conversion to a full psychotic disorder.
SCHIZOPHRENIA BULLETIN
(2023)
Article
Biochemistry & Molecular Biology
Amarens van der Vaart, Martine G. E. Knol, Martin H. de Borst, Stephan J. L. Bakker, Margery A. Connelly, Erwin Garcia, Henk J. G. Bilo, Peter R. van Dijk, Robin P. F. Dullaart
Summary: This study suggests that fasting plasma ketone bodies (KB) are associated with poorer glycemic control in individuals with type 2 diabetes (T2D) in a cross-sectional analysis, but longitudinally associated with better long-term glycemic control in a prospective analysis.
Article
Clinical Neurology
Ahmad Mayeli, James D. Wilson, Francesco L. Donati, Alice LaGoy, Fabio Ferrarelli
Summary: This study found that sleep spindles are altered in individuals at clinical high-risk for psychosis, and these spindle abnormalities are associated with cognitive deficits, indicating that they may serve as a sleep-specific neurophysiological biomarker for cognitive dysfunction in psychosis risk.
Article
Multidisciplinary Sciences
Ganna Leonenko, Emily Baker, Joshua Stevenson-Hoare, Annerieke Sierksma, Mark Fiers, Julie Williams, Bart de Strooper, Valentina Escott-Price
Summary: Polygenic Risk Scores for Alzheimer's disease offer unique possibilities for reliably identifying individuals at high and low risk. The study shows that the best prediction accuracy is achieved with a model including APOE and a polygenic score excluding APOE. Standardizing PRS against the population mean makes individuals' scores comparable between studies.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Susanne F. Awad, Soha R. Dargham, Amine A. Toumi, Elsy M. Dumit, Katie G. El-Nahas, Abdulla O. Al-Hamaq, Julia A. Critchley, Jaakko Tuomilehto, Mohamed H. J. Al-Thani, Laith J. Abu-Raddad
Summary: A diabetes risk score was developed using a novel analytical approach and tested in the Qatari population. Results from 2020 to 2050 showed comparable performance, demonstrating the effectiveness of the self-complete risk score for diabetes screening and targeted lifestyle counseling.
SCIENTIFIC REPORTS
(2021)
Article
Endocrinology & Metabolism
Matthew J. Magee, Anjali Khakharia, Neel R. Gandhi, Cheryl L. Day, Hardy Kornfeld, Mary K. Rhee, Lawrence S. Phillips
Summary: The study used longitudinal data to show that LTBI is associated with increased diabetes incidence. Even after adjusting for covariates, the diabetes incidence rate remained higher in patients with LTBI. Among patients with LTBI, the diabetes incidence rate was similar in those treated for LTBI compared with those who were not treated.
Article
Endocrinology & Metabolism
Matthew J. Magee, Anjali Khakharia, Neel R. Gandhi, Cheryl L. Day, Hardy Kornfeld, Mary K. Rhee, Lawrence S. Phillips
Summary: Comprehensive longitudinal data indicate that latent tuberculosis infection (LTBI) is associated with increased diabetes incidence.
Article
Endocrinology & Metabolism
Sebastian Hoerber, Rainer Lehmann, Louise Fritsche, Juergen Machann, Andreas L. Birkenfeld, Hans-Ulrich Haering, Norbert Stefan, Martin Heni, Andreas Fritsche, Andreas Peter
Summary: Lifestyle intervention over one year significantly reduces coagulation factor activities, improves coagulation status, and lowers the risk of thrombosis. In addition to body weight, reducing liver fat, improving insulin sensitivity, and decreasing low-grade inflammation also contribute to improvements in hemostasis.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Laura M. Jacobsen, Brian N. Bundy, Heba M. Ismail, Mark Clements, Megan Warnock, Susan Geyer, Desmond A. Schatz, Jay M. Sosenko
Summary: Individuals with an Index60 ≥ 2.04 have a greater risk for type 1 diabetes with more characteristic features of the disorder compared to those with an HbA1c ≥ 5.7%. Therefore, using an Index60 ≥ 2.04 as a criterion for prediabetes in autoantibody-positive individuals appears to be justified.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Clinical Neurology
Karen Agricola, Gabrielle Stires, Darcy A. Krueger, Jamie K. Capal, David N. Franz, David M. Ritter
Summary: The long-term use of mTOR inhibitors in TSC patients may increase the risk of developing diabetes, as shown in the analysis of 8 patients who developed diabetes. Early detection is crucial for diabetes management. More studies are needed to investigate the causal relationship, but clinicians should be aware of this potential association when initiating and monitoring treatment.
PEDIATRIC NEUROLOGY
(2021)
Article
Endocrinology & Metabolism
Raija Lithovius, Anni A. Antikainen, Stefan Mutter, Erkka Valo, Carol Forsblom, Valma Harjutsalo, Niina Sandholm, Per-Henrik Groop
Summary: This study explores the use of a genetic risk score (GRS) for coronary artery disease (CAD) risk prediction in individuals with type 1 diabetes. The GRS showed similar predictive performance to established clinical markers and was more effective in younger individuals.
Article
Critical Care Medicine
Andrea Kelly, Diva D. De Leon, Saba Sheikh, Devaney Camburn, Christina Kubrak, Amy J. Peleckis, Darko Stefanovski, Denis Hadjiliadis, Michael R. Rickels, Ronald C. Rubenstein
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2019)
Article
Endocrinology & Metabolism
Mary Ellen Vajravelu, Morgan Congdon, Lauren Mitteer, Jamie Koh, Stephanie Givler, Justine Shults, Diva D. De Leon
HORMONE RESEARCH IN PAEDIATRICS
(2019)
Article
Respiratory System
Marissa J. Kilberg, Saba Sheikh, Darko Stefanovski, Christina Kubrak, Diva D. De Leon, Denis Hadjiliadis, Ronald C. Rubenstein, Michael R. Rickels, Andrea Kelly
JOURNAL OF CYSTIC FIBROSIS
(2020)
Article
Multidisciplinary Sciences
Mangala M. Soundarapandian, Christine A. Juliana, Jinghua Chai, Patrick A. Haslett, Kevin Fitzgerald, Diva D. De Leon
Article
Genetics & Heredity
Sarah E. Sheppard, Brett Barrett, Colleen Muraresku, Heather McKnight, Diva D. De Leon, Katherine Lord, Rebecca Ganetzky
Summary: Heterozygous pathogenic variants in HNF4A can result in a range of disorders, including hyperinsulinism and diabetes, with patients potentially exhibiting multiple features simultaneously. Specific pathogenic variants may also lead to the expansion of different clinical phenotypes.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Letter
Obstetrics & Gynecology
Paul Thornton, Diva D. De Leon
JOURNAL OF PERINATOLOGY
(2021)
Article
Genetics & Heredity
Anne Benner, Yazeid Alhaidan, Matthew A. Lines, Klaus Brusgaard, Diva D. De Leon, Rebecca Sparkes, Anja L. Frederiksen, Henrik T. Christesen
Summary: Idiopathic ketotic hypoglycemia is a diagnosis of exclusion with differential diagnosis including glycogen storage diseases. Our study identified novel pathogenic PHKA2 variants associated with ketotic hypoglycemia, hepatomegaly, and growth retardation. The continuum of PHKA2 missense variants expands the classical GSD IXa phenotype.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Endocrinology & Metabolism
Arpana Rayannavar, Lauren M. Mitteer, Courtney A. Balliro, Firas H. El-Khatib, Katherine L. Lord, Colin P. Hawkes, Lance S. Ballester, Edward R. Damiano, Steven J. Russell, Diva D. De Leon
Summary: The study aimed to determine if the bihormonal bionic pancreas (BHBP) improves glycemic control and reduces hypoglycemia in individuals with congenital hyperinsulinism (HI) and postpancreatectomy diabetes (PPD) compared with usual care (UC). The results showed that relative to UC, the BHBP resulted in comparable glycemic control in the study population.
Article
Oncology
Elizabeth Rosenfeld, Kelly D. Getz, Tamara P. Miller, Alix E. Seif, Brian T. Fisher, Evanette Burrows, Mark Jason Ramos, Diva D. De Leon, Richard Aplenc, Knashawn H. Morales, James P. Guevara
Summary: This study found a high incidence of hypoglycemia during maintenance chemotherapy, with younger age at maintenance initiation and hepatotoxicity during chemotherapy prior to maintenance initiation being associated with this outcome. It highlights the importance of counseling and monitoring for hypoglycemia, especially in young children.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Pediatrics
Lisa J. States, Susan A. Becker, Diva D. De Leon
Summary: Hyperinsulinemic hypoglycemia of infancy, also known as congenital hyperinsulinism, is a group of disorders characterized by dysregulated insulin release. Severe cases may require pancreatectomy to prevent brain damage from hypoglycemia, and surgical resection of a focal lesion can result in a cure in up to 97% of children. PET imaging with genetic evaluation is crucial for guiding surgical treatment.
PEDIATRIC RADIOLOGY
(2022)
Article
Endocrinology & Metabolism
Darko Stefanovski, Mary E. Vajravelu, Stephanie Givler, Diva D. De Leon
Summary: The aim of this study was to assess the effects of exendin-(9-39) on fasting and postprandial plasma glucose and the incidence of hypoglycemia in children with hyperinsulinism. The results showed that exendin-(9-39) significantly increased fasting and postprandial glucose and reduced the likelihood of hypoglycemia.
Article
Endocrinology & Metabolism
Heather Cuff, Katherine Lord, Lance Ballester, Tryce Scully, Nicole Stewart, Diva D. De Leon
Summary: This study evaluated the effectiveness and safety of lanreotide in individuals with HI, showing that lanreotide is a well-tolerated treatment resulting in a longer duration of fasting and simplification of treatment regimens.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Pediatrics
Elizabeth Rosenfeld, Ohoud Alzahrani, Diva D. De Leon
Summary: The study aimed to determine whether incidental hypoglycaemia detected during intercurrent illness in children requires an endocrine workup and to compare clinical and biochemical features between patients ultimately diagnosed with a hypoglycaemic disorder and those who were not. The study found that 8% of the patients who underwent a diagnostic fast were diagnosed with a hypoglycaemic disorder, suggesting that diagnostic evaluation is necessary for hypoglycaemia detected during illness.
BMJ PAEDIATRICS OPEN
(2023)
Article
Endocrinology & Metabolism
Diva D. De Leon, Jean Baptiste Arnoux, Indraneel Banerjee, Ignacio Bergada, Tricia Bhatti, Louise S. Conwell, Jun Fen Fu, Sarah E. Flanagan, David Gillis, Thomas Meissner, Klaus Mohnike, Tai L. S. Pasquini, Pratik Shah, Charles A. Stanley, Adrian Vella, Tohru Yorifuji, Paul S. Thornton
Summary: Hyperinsulinism (HI) is the most common and severe cause of persistent hypoglycemia in infants and children. Despite advances in diagnostic tools and understanding of the pathophysiology, there is currently only one approved drug for treating HI, and it is unavailable in many under-developed regions. This international consensus statement aims to aid in early recognition and treatment of HI, with the goal of reducing brain injury caused by hypoglycemia.
HORMONE RESEARCH IN PAEDIATRICS
(2023)
Article
Endocrinology & Metabolism
Paul S. Thornton, Diva D. De Leon, Susann Empting, David Zangen, David M. Kendall, Sune Birch, Eva Boge, Jelena Ivkovic, Indraneel Banerjee
Summary: This study evaluated the efficacy and safety of continuous subcutaneous infusion of dasiglucagon as an add-on treatment for children with CHI and persistent hypoglycemia. Dasiglucagon was found to significantly reduce the frequency and severity of hypoglycemic episodes, and was well tolerated.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)