☆ 4.7 Editorial Material

Donohue Syndrome

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Journal

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Volume 97, Issue 5, Pages 1416-1417

Publisher

ENDOCRINE SOC

DOI: 10.1210/jc.2011-3215

Keywords

-

Categories

Endocrinology & Metabolism

Ask authors/readers for more resources

Protocol

Community support

Reagent

Community support

Authors

I am an author on this paper

Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.7

Not enough ratings

Secondary Ratings

Novelty

-

Significance

-

Scientific rigor

-

Rate this paper

Recommended

Article Chemistry, Multidisciplinary

Description of sigmoid adsorption isotherms of water pollutants by the Aranovich-Donohue equation

Murat Yilmaz, Mohd Ali Hashim, Khim Hoong Chu

Summary: This article examines the limitations of the widely used Brunauer-Emmett-Teller (BET) equation in fitting nonstandard type II isotherm data in adsorptive water remediation. It introduces the Aranovich-Donohue equation as a modified version of the BET equation and demonstrates its superior performance in accurately correlating anomalous isotherm data. The Aranovich-Donohue-Sips equation is also shown to effectively fit nonstandard type II isotherm data, highlighting its versatility in practical applications.

SEPARATION SCIENCE AND TECHNOLOGY (2022)

Add to Collection

Article Obstetrics & Gynecology

Donohue syndrome in an Egyptian infant: a case report

Kotb Abbass Metwalley, Hekma Saad Farghaly, Lamiaa Mahmood Maxi

Summary: We report a case of Donohue syndrome, a rare genetic disorder associated with severe insulin-resistant diabetes. The patient, a 4-month-old girl, exhibited characteristic dysmorphic facial features, severe growth retardation, fasting hypoglycemia, postprandial hyperglycemia, and hyperinsulinemia. Diagnosis was confirmed by genetic analysis and the patient achieved reasonable glycemic control with high-dose insulin treatment and frequent nasogastric formula milk feeding.

CASE REPORTS IN PERINATAL MEDICINE (2023)

Add to Collection

Article Music

Donohue plus : Developing performer-specific electronic improvisatory accompaniment for instrumental improvisation

Sam Gillies, Maria Sappho Donohue

Summary: This article documents the development of an improvisatory electroacoustic instrument for pianist Maria Donohue as a collaborative process for music-making. Through the process of development, Maria's performative style, within the broader context of free improvisation, was analysed and used to design an interactive electronic system. The end result is a meaningful augmentation of the piano in accordance with Maria's creative practice.

ORGANISED SOUND (2021)

Add to Collection

Review Health Care Sciences & Services

Broad Electrocardiogram Syndromes Spectrum: From Common Emergencies to Particular Electrical Heart Disorders

Anastasia Balta, Alexandr Ceasovschih, Victorita Sorodoc, Kyriakos Dimitriadis, Sara Guzel, Catalina Lionte, Cristian Statescu, Radu Andy Sascau, Emmanouil Mantzouranis, Athanasios Sakalidis, Panayotis K. Vlachakis, Panagiotis Tsioufis, Athanasios Kordalis, Eleftherios Tsiamis, Konstantinos Tsioufis, Laurentiu Sorodoc

Summary: Electrocardiogram (ECG) remains a useful diagnostic method in modern cardiology due to its availability, non-invasiveness, and sensitivity. Good training in ECG interpretation is mandatory for practitioners. This article presents less common ECG situations with high pathological significance.

JOURNAL OF PERSONALIZED MEDICINE (2022)

Add to Collection

Article Pediatrics

Duodenogastric Intussusception in a 14-Week-Old Infant with Donohue Syndrome: Case Study

Corina Ramona Nicolescu, Clara Cremillieux, Jean-Louis Stephan

Summary: Donohue syndrome is a rare genetic disorder characterized by severe insulin resistance and a range of symptoms, including growth restriction, facial abnormalities, and complications in various organs. The prognosis of this syndrome is poor, with a short life expectancy.

CASE REPORTS IN PEDIATRICS (2023)

Add to Collection

Review Endocrinology & Metabolism

Pregnancy complicated with adrenal adenoma causing ACTH-independent Cushing's syndrome, accompanied by obstetric antiphospholipid syndrome and severe pre-eclampsia: case report and literature review

Shenghan Xu, Miao Liu, Jiamu Xu, Bangwei Che, Wenjun Zhang, Wei Li, Tao Huang, Ying Yu, Cheng Zha, Zheng Peng, Kunyuan Huang, Kaifa Tang

Summary: This case report shares the management experience of a patient with pregnancy combined with adrenal adenoma causing ACTH-independent Cushing's syndrome (CS), accompanied by obstetric antiphospholipid syndrome (OAPS) and severe pre-eclampsia. The patient underwent laparoscopic adrenal tumor resection under general anesthesia at 23 weeks of gestation and cesarean section at 39 weeks to give birth to a healthy baby girl with an Apgar score of 10. Pregnancy complicated by CS is rare and difficult to diagnose, but diagnostic methods such as 24-hour urinary free cortisol, cortisol circadian rhythm, ultrasound, and MRI can be helpful. Furthermore, this case highlights the importance of recognizing and treating OAPS in patients with CS during pregnancy.

FRONTIERS IN ENDOCRINOLOGY (2023)

Add to Collection

Article Medicine, General & Internal

Case 2-2022: A 70-Year-Old Man with a Recurrent Left Pleural Effusion

Peter C. Grayson, Cory A. Perugino, Vincent V. Dinculescu, Judith A. Ferry

Summary: This case report describes a 70-year-old man with a history of various diseases who presented with recurrent left pleural effusion. Diagnostic tests were performed to guide treatment decisions.

NEW ENGLAND JOURNAL OF MEDICINE (2022)

Add to Collection

Article Medicine, General & Internal

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

David E. Godler, Ling Ling, Dinusha Gamage, Emma K. Baker, Minh Bui, Michael J. Field, Carolyn Rogers, Merlin G. Butler, Alessandra Murgia, Emanuela Leonardi, Roberta Polli, Charles E. Schwartz, Cindy D. Skinner, Angelica M. Alliende, Lorena Santa Maria, James Pitt, Ronda Greaves, David Francis, Ralph Oertel, Min Wang, Cas Simons, David J. Amor

Summary: The findings of this study suggest that screening for all chromosome 15 imprinting disorders using SNRPN methylation analysis is feasible, with 5 individuals identified out of 16,579 infants screened.

JAMA NETWORK OPEN (2022)

Add to Collection

Review Endocrinology & Metabolism

Syndromic forms of congenital hyperinsulinism

Martin Zenker, Klaus Mohnike, Katja Palm

Summary: Congenital hyperinsulinism (CHI), also known as hyperinsulinemic hypoglycemia (HH), is a diverse condition that is the most common cause of severe and persistent hypoglycemia in infants and children. It is primarily caused by genetic defects affecting pancreatic beta-cells and their glucose-sensing system. However, CHI/HH can also occur in various syndromic disorders.

FRONTIERS IN ENDOCRINOLOGY (2023)

Add to Collection

Review Immunology

An advanced understanding of the heterogeneous clinical features of non-criteria obstetric antiphospholipid syndrome: Two case reports and a literature review

Xue Peng, Xi Tan, Aiyun Xing

Summary: Antiphospholipid syndrome (APS) is an acquired autoimmune disorder characterized by recurrent thrombosis and pregnancy complications. Obstetrical APS (OAPS) specifically refers to APS in pregnant women. The classification criteria for OAPS have generated discussion due to the possibility of excluding certain patients. This article presents two cases of non-criteria OAPS with severe complications and discusses the diagnosis, treatment, and prognosis of this unusual antenatal event. It also provides an overview of the pathogenetic mechanisms and clinical features of OAPS.

FRONTIERS IN IMMUNOLOGY (2023)

Add to Collection

Article Medical Informatics

Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study

Antonio R. Porras, Kenneth Rosenbaum, Carlos Tor-Diez, Marshall Summar, Marius George Linguraru

Summary: The study presented a machine learning-based facial deep phenotyping technology to evaluate the risk of genetic syndromes in children. Trained and tested on a diverse population's facial photographs, the technology demonstrated high accuracy and sensitivity in the overall population.

LANCET DIGITAL HEALTH (2021)

Add to Collection

Article Clinical Neurology

Skeletal Muscle and Peripheral Nerve Histopathology in COVID-19

Joome Suh, Shibani S. Mukerji, Sarah Collens, Robert F. Padera, Geraldine S. Pinkus, Anthony A. Amato, Isaac H. Solomon

Summary: In patients who died after SARS-CoV-2 infection, muscle and nerve tissues showed various pathological changes, predominantly indicating inflammatory/immune-mediated damage possibly related to cytokine release. There was no evidence of direct viral invasion of these tissues.

NEUROLOGY (2021)

Add to Collection

Article Hematology

Azacitidine for patients with Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry

Thibault Comont, Mael Heiblig, Etienne Riviere, Louis Terriou, Julien Rossignol, Didier Bouscary, Virginie Rieu, Guillaume Le Guenno, Alexis Mathian, Achille Aouba, Julien Vinit, Jeremie Dion, Olivier Kosmider, Benjamin Terrier, Sophie Georgin-Lavialle, Pierre Fenaux, Arsene Mekinian

Summary: Azacitidine may be effective in MDS associated with inflammatory/autoimmune diseases. A study on 116 VEXAS patients in France found that azacitidine treatment achieved clinical response in 46% of patients, suggesting its potential effectiveness in selected VEXAS patients with MDS.

BRITISH JOURNAL OF HAEMATOLOGY (2022)

Add to Collection

Review Radiology, Nuclear Medicine & Medical Imaging

Long-term Lung Abnormalities Associated with COVID-19 Pneumonia

Jeffrey P. Kanne, Brent P. Little, Jefree J. Schulte, Adina Haramati, Linda B. Haramati

Summary: In the 3rd year of the SARS-CoV-2 pandemic, it has been found that about one-third of patients with moderate-to-severe pneumonia, especially those who required intensive care or mechanical ventilation, have residual abnormalities in their lungs one year after initial presentation. These abnormalities range from parenchymal bands to bronchial dilation to fibrosis. The long-term pulmonary vascular sequelae are not well understood, but there seems to be a persistent increased risk of venothromboembolic events in a small group of patients. The histologic abnormalities associated with SARS-CoV-2 infection are similar to those seen in patients with acute lung injury from other causes.

RADIOLOGY (2023)

Add to Collection

Article Gastroenterology & Hepatology

Clinical Features of Patients Infected With Coronavirus Disease 2019 With Elevated Liver Biochemistries: A Multicenter, Retrospective Study

Yu Fu, Rui Zhu, Tao Bai, Ping Han, Qin He, Mengjia Jing, Xiaofeng Xiong, Xi Zhao, Runze Quan, Chaoyue Chen, Ying Zhang, Meihui Tao, Jianhua Yi, Dean Tian, Wei Yan

Summary: Elevated liver biochemistries were common in patients with COVID-19, with those exhibiting hypoxia or severe inflammation more likely to have abnormal liver tests upon admission. Patients presenting abnormal AST or TBIL on admission were more prone to severe complications and mortality.

HEPATOLOGY (2021)

Add to Collection

Article Endocrinology & Metabolism

Ovarian Hyperandrogenism and Response to Gonadotropin-releasing Hormone Analogues in Primary Severe Insulin Resistance

Isabel Huang-Doran, Alexandra B. Kinzer, Mercedes Jimenez-Linan, Kerrie Thackray, Julie Harris, Claire L. Adams, Marc de Kerdanet, Anna Stears, Stephen O'Rahilly, David B. Savage, Phillip Gorden, Rebecca J. Brown, Robert K. Semple

Summary: Severe insulin resistance (IR) is associated with high levels of androgens and ovarian changes similar to polycystic ovary syndrome (PCOS). Treatment with GnRH analogues can improve hyperandrogenic symptoms and reduce testosterone levels in different subtypes of SIR. Insulin signaling disorders and adipose development defects have distinct relationships with free testosterone levels, mediated by sex hormone-binding globulin (SHBG).

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)

Add to Collection

Correction Biochemistry & Molecular Biology

The islet's bridesmaid becomes the bride: Proglucagon-derived peptides deliver transformative therapies (vol 184, pg 1945, 2021)

Stephen O'Rahilly

CELL (2021)

Add to Collection

Review Genetics & Heredity

A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement

Sofia Douzgou, Myfanwy Rawson, Eulalia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian, Kim M. Keppler-Noreuil, Paul Kuentz, Grazia M. S. Mancini, Marie-Cecile Maniere, Victor Martinez-Glez, Victoria E. Parker, Robert K. Semple, Siddharth Srivastava, Pierre Vabres, Marie-Claire Y. De Wit, John M. Graham, Jill Clayton-Smith, Ghayda M. Mirzaa, Leslie G. Biesecker

Summary: Growth promoting variants in PIK3CA can cause a range of developmental disorders, grouped as PIK3CA-Related Overgrowth Spectrum disorders (PROS). Managing these conditions presents challenges due to clinical heterogeneity and lack of medical expertise in affected families. A consensus on management guidelines is needed to address these issues effectively.

CLINICAL GENETICS (2022)

Add to Collection

Correction Genetics & Heredity

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities (Apr, 10.1038/s41436-021-01161-6, 2021)

Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Helene Aubriot-Lorton, Victoria E. R. Parker, Arthur Sorlin, Sylvie Fraitag, Jean-Benoit Courcet, Yannis Duffourd, Diana Rodriguez, Rachel G. Knox, Satyamaanasa Polubothu, Anne Boland, Robert Olaso, Marc Delepine, Veronique Darmency, Melissa Riachi, Chloe Quelin, Paul Rollier, Louise Goujon, Sarah Grotto, Yline Capri, Marie-Line Jacquemont, Sylvie Odent, Daniel Amram, Martin Chevarin, Catherine Vincent-Delorme, Benoit Catteau, Laurent Guibaud, Alexis Arzimanoglou, Malika Keddar, Catherine Sarret, Patrick Callier, Didier Bessis, David Genevieve, Jean-Francois Deleuze, Christel Thauvin, Robert K. Semple, Christophe Philippe, Jean-Baptiste Riviere, Veronica A. Kinsler, Laurence Faivre, Pierre Vabres

GENETICS IN MEDICINE (2021)

Add to Collection

Review Endocrinology & Metabolism

Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes

Amelie Bonnefond, Robert K. Semple

Summary: Integration of genomic and other data has stratified type 2 diabetes, but has not yet impacted mainstream diabetes practice. Diabetes caused by single gene defects provides the best example of precision diabetes, with clear genotype-selective responses to therapy. In monogenic insulin-resistant diabetes, subcutaneous leptin therapy benefits severe lipodystrophy patients. The main challenge in beta cell diabetes is the implementation of precision diabetes vision at scale. While genotype-specific benefits for monogenic insulin-resistant diabetes have been proven in fewer patients, further genotype-targeted therapies are being evaluated.

DIABETOLOGIA (2022)

Add to Collection

Editorial Material Biochemistry & Molecular Biology

PIK3CA-related overgrowth: silver bullets from the cancer arsenal?

Ralitsa R. Madsen, Robert K. Semple

Summary: Mutations that activate growth factor signaling play a crucial role in cancer growth, but they can also cause developmental growth disorders when they occur in isolation. PIK3CA, a gene that encodes a catalytic subunit of phosphatidylinositol 3-kinase (PI3K), exemplifies this paradigm. This article discusses the recent exciting progress towards repurposing cancer drugs for PIK3CA-driven overgrowth, which is a key goal in cancer research.

TRENDS IN MOLECULAR MEDICINE (2022)

Add to Collection

Editorial Material Endocrinology & Metabolism

Insulin Resistance and Adrenal Androgen Synthesis Viewed Through a Monogenic Lens

Robert K. Semple

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2022)

Add to Collection

Article Pharmacology & Pharmacy

Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome

Isis Atallah, Dominique McCormick, Jean-Marc Good, Mohammed Barigou, Montserrat Fraga, Christine Sempoux, Andrea Superti-Furga, Robert K. Semple, Christel Tran

Summary: This article describes a case of Werner syndrome presenting with early onset diabetes, partial lipodystrophy, severe dyslipidaemia, and rapidly progressive liver fibrosis. Molecular diagnosis revealed compound heterozygous mutations in the WRN gene. The study suggests that including WRN gene analysis in patients with early onset diabetes, lipodystrophy, or dyslipidaemia can allow for early detection of Werner syndrome and implementation of preventive interventions.

JOURNAL OF CLINICAL LIPIDOLOGY (2022)

Add to Collection

Article Endocrinology & Metabolism

Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7-8 April 2022

Helena Mosbah, Baris Akinci, David Araujo-Vilar, Juan Carrion Tudela, Giovanni Ceccarini, Philippe Collas, I. Sadaf Farooqi, Antia Fernandez-Pombo, Isabelle Jeru, Fredrik Karpe, Kerstin Krause, Margherita Maffei, Konstanze Miehle, Elif Oral, Naca Perez de Tudela, Xavier Prieur, Justin Rochford, Rebecca Sanders, Ferruccio Santini, David B. Savage, Julia von Schnurbein, Robert Semple, Anna Stears, Ekaterina Sorkina, Marie-Christine Vantyghem, Camille Vatier, Antonio Vidal-Puig, Corinne Vigouroux, Martin Wabitsch

Summary: Lipodystrophy syndromes are rare diseases that affect the development or maintenance of adipose tissue, leading to severe metabolic complications. The European Consortium of Lipodystrophies (ECLip) is a non-profit network that promotes scientific understanding and clinical management of these diseases through collaborations and a patient registry.

ANNALES D ENDOCRINOLOGIE (2022)

Add to Collection

Article Immunology

Ethnic differences in complement system biomarkers and their association with metabolic health in men of Black African and White European ethnicity

L. M. Goff, K. Davies, W. M. Zelek, E. Kodosaki, O. Hakim, S. Lockhart, S. O'Rahilly, B. P. Morgan

Summary: Poor metabolic health and obesity in Black African populations contribute to increased susceptibility to disease, including COVID-19. Complement dysregulation has been linked to metabolic health and implicated as a driver of pathology; however, ethnic differences in complement have not been explored.

CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2023)

Add to Collection

Article Biochemistry & Molecular Biology

p53 Regulates Mitochondrial Dynamics in Vascular Smooth Muscle Cell Calcification

Kanchan Phadwal, Qi-Yu Tang, Ineke Luijten, Jin-Feng Zhao, Brendan Corcoran, Robert K. Semple, Ian G. Ganley, Vicky E. MacRae

Summary: Arterial calcification, a characteristic of cardiovascular disease, shares similarities with skeletal mineralization but the cellular mechanisms are not fully understood. This study found that vascular smooth muscle cell (VSMC) calcification is associated with elongated mitochondria, increased reactive oxygen species production, and reduced mitophagy. The protein expressions of OPA1 and DRP1, key regulators of mitochondrial fusion and fission, respectively, were also altered. Additionally, p53-induced mitochondrial fusion was found to underlie cellular senescence in VSMC calcification.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

Add to Collection

Article Endocrinology & Metabolism

Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty

Katie Duckett, Alice Williamson, John W. R. Kincaid, Kara Rainbow, Laura J. Corbin, Hilary C. Martin, Ruth Y. Eberhardt, Qin Qin Huang, Matthew E. Hurles, Wen He, Raja Brauner, Angela Delaney, Leo Dunkel, Romina P. Grinspon, Janet E. Hall, Joel N. Hirschhorn, Sasha R. Howard, Ana C. Latronico, Alexander A. L. Jorge, Ken McElreavey, Veronica Mericq, Paulina M. Merino, Mark R. Palmert, Lacey Plummer, Rodolfo A. Rey, Raissa C. Rezende, Stephanie B. Seminara, Kathryn Salnikov, Indraneel Banerjee, Brian Y. H. Lam, John R. B. Perry, Nicholas J. Timpson, Peter Clayton, Yee-Ming Chan, Ken K. Ong, Stephen O'Rahilly

Summary: Deleterious variants in MC3R are more frequently found in patients with constitutional delay of growth and puberty (CDGP) compared to normosmic idiopathic hypogonadotropic hypogonadism (nIHH). However, these variants are not a common cause of CDGP.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2023)

Add to Collection

Article Endocrinology & Metabolism

Resolution of dysglycaemia after treatment of monoclonal gammopathy of endocrine significance

Bonnie Grant, Gowri Ratnayake, Claire L. Williams, Anna Long, David J. Halsall, Robert K. Semple, James D. Cavenagh, William M. Drake, David S. Church

Summary: This case report describes a 67-year-old man with monoclonal gammopathy who developed disabling hypoglycaemia due to an insulin-binding paraprotein. Despite distal pancreatectomy, his symptoms persisted, but were successfully managed with plasma exchange and Lenalidomide treatment.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2023)

Add to Collection

Meeting Abstract Oncology

Functional dissection of GNAQ and GNA11 oncogenic mutations identifies potential targeted therapy

Davide Zecchin, Nicole Knoepfel, Anna Gluck, Mark Stevenson, Kate E. Lines, Satyamaanasa Polubothu, Noreen Muwanga-Nanyonjo, Sara Barberan-Martin, Fanourios Michailidis, Dale Bryant, Ulrike Loebel, Asuka Inoue, Robert Semple, Sarah Aylett, Rajesh V. Thakker, Veronica A. Kinsler

CANCER RESEARCH (2022)

Add to Collection

Meeting Abstract Dermatology

Aberrant calcium signalling and systemic hypocalcaemia in GNAQ/11 mosaic diseases

Davide Zecchin, Nicole Knoepfel, Anne Gluck, Mark Stevenson, Satyamaanasa Polubothu, Noreen Muwanga-Nanyonjo, Sara Barberan-Martin, Fanis Michailidis, Dale Bryant, Ulrike Loebel, Hanna Richardson, Sarah Aylett, Martin Tisdall, Asuka Inoue, Robert Semple, Rajesh Thakker, Veronica Kinsler

BRITISH JOURNAL OF DERMATOLOGY (2022)

Add to Collection

No Data Available

© Peeref 2019-2024. All rights reserved.