Article
Endocrinology & Metabolism
Patrick Forny, Friederike Hoerster, Diana Ballhausen, Anupam Chakrapani, Kimberly A. Chapman, Carlo Dionisi-Vici, Marjorie Dixon, Sarah C. Gruenert, Stephanie Grunewald, Goknur Haliloglu, Michel Hochuli, Tomas Honzik, Daniela Karall, Diego Martinelli, Femke Molema, Joern Oliver Sass, Sabine Scholl-Buergi, Galit Tal, Monique Williams, Martina Huemer, Matthias R. Baumgartner
Summary: This article summarizes the latest guidelines for isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA), providing a more concise version through an expert panel evaluation and compilation of recommendations to assist healthcare professionals in making informed decisions in patient care.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Biochemistry & Molecular Biology
Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernandez-Felix, Pedro Ruiz-Sala, Patricia Alcaide, Francisco Arrieta, Mercedes Martinez-Pardo
Summary: The study found that patients with propionic acidemia (PA) generally have a deficiency of coenzyme Q10 (CoQ10), but supplementation with ubiquinol can correct this deficiency. In addition, ubiquinol supplementation can improve mitochondrial function and promote the smooth progress of the Krebs cycle in PA patients. This treatment method has good tolerability and may be used to prevent the chronic complications associated with PA.
Review
Cardiac & Cardiovascular Systems
J. Lukas Laws, Megan C. Lancaster, M. Ben Shoemaker, William G. Stevenson, Rebecca R. Hung, Quinn Wells, D. Marshall Brinkley, Sean Hughes, Katherine Anderson, Dan Roden, Lynne W. Stevenson
Summary: There is increasing evidence about the prevalence of genetic cardiomyopathies, with arrhythmias being a common first symptom. Genetic cardiomyopathies can lead to sudden death, and current testing methods are insufficient in tracking this risk. Genetic diagnosis has significant implications for other aspects of clinical management, such as exercise prescription and pharmacological therapy.
CIRCULATION RESEARCH
(2022)
Article
Pediatrics
Stefan Schumann, Frank Risto Rommel, Serdar Cantez, Evdokia Alexanidou, Clemens Kamrath, Jan de Laffolie
Summary: Methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. A small cohort study showed that placement of a percutaneous endoscopic gastrostomy with jejunal tube (J-PEG) can reduce metabolic imbalances and hospital stays in patients with MMA or PA. The placement of a postpyloric tube may help prevent metabolic emergencies by continuously feeding through the jejunal part.
FRONTIERS IN PEDIATRICS
(2023)
Editorial Material
Clinical Neurology
Roshan Dhanapalaratnam, Raymond Schwartz, William Huynh
Summary: A 72-year-old woman with a history of asthma and bronchiectasis presented with a 7-year history of bilateral hand cramps, which significantly improved following treatment.
Editorial Material
Medicine, General & Internal
Barbara Muoio, Giorgio Treglia, Paola Migliora, Maria Del Grande
Summary: The case describes a 45-year-old woman with an unusual presentation of metastatic ovarian cancer, presenting with skin rash, pleural effusion, and bilateral cystic ovarian masses. Biopsy confirmed the presence of ovarian serous carcinoma and breast skin lesion revealed carcinomatous lymphangitis with ovarian origin documented by immunohistochemistry.
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Ritesh Ramesh Suthar, Archi Agrawal, Kedar Deodhar, Nilendu Purandare, Sneha Shah, Ameya Puranik, Sayak Choudhury, Venkatesh Rangarajan
Summary: Ga-68-PSMA PET/CT is commonly used for prostate cancer imaging, but it can also be used for other pathologies. H. pylori infection can cause benign gastric mass formation with increased PSMA concentration.
CLINICAL NUCLEAR MEDICINE
(2022)
Article
Medicine, General & Internal
Hesham Afify, Somshukla Ghosh, Melissa Khalil, Mark R. Milunski
Summary: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease with unclear prevalence, diverse clinical presentations, non-standardized diagnostic criteria, and an increased risk for thromboembolic events. Here, we report an unusual case of LVNC diagnosed in a septuagenarian.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Article
Medicine, General & Internal
Joanna Jeleniewska, Ewa Niebudek-Bogusz, Jakub Malinowski, Joanna Morawska, Joanna Milkowska-Dymanowska, Wioletta Pietruszewska
Summary: This study assesses the clinical management of severe, isolated dysphonia during post-COVID-19 syndrome. The results indicate that comprehensive treatment including systemic steroids, moisturizing inhalations, and protective agents can significantly improve vocal function and quality in patients.
Article
Clinical Neurology
Zongzhi Jiang, Yuxin Fu, Xiaojing Wei, Ziyi Wang, Xuefan Yu
Summary: Propionic acidemia is an inherited metabolic disorder, and the late-onset type has specific characteristics in clinical presentation and muscle pathology. This case report describes the diagnosis and treatment of a 19-year-old female patient using symptoms, imaging, and genetic analysis.
FRONTIERS IN NEUROLOGY
(2022)
Article
Medicine, General & Internal
Jonathan Vincent M. Reyes, Hafsa Majeed, David Song, Saad Ahmad, Ashley Bray, Talal Almas, Abdulaziz Alshamlan, Joseph J. Lieber
Summary: This case study presents a patient with symptomatic sinus bradycardia resulting in syncope, later found to have underlying adrenal insufficiency that was treated with steroids. It emphasizes the importance of recognizing and correcting the underlying causes of symptomatic bradycardia.
ANNALS OF MEDICINE AND SURGERY
(2021)
Article
Medicine, General & Internal
Doron Kabiri, Diana Prus, Roie Alter, Gali Gordon, Shay Porat, Yossef Ezra
Summary: Group A Streptococcus infection after delivery can be life-threatening and characterized by high fever and abdominal pain. Atypical presentation may lead to delayed diagnosis.
FRONTIERS IN MEDICINE
(2022)
Article
Multidisciplinary Sciences
Hiroyuki Yamamoto, Haruna Akiba, Hiroshi Inagawa, Yasusei Okada
Summary: This is a rare and difficult-to-diagnose case of isolated right ventricular Takotsubo cardiomyopathy. The patient presented with acute right ventricular failure, progressing to cardiogenic shock requiring intensive treatment. Conflicting echocardiographic findings of right ventricular asynergy with right ventricular enlargement despite normal left ventricular wall motion and mild tricuspid regurgitation led to the correct diagnosis. Finally, the patient showed complete recovery with normalization of cardiac structure and function.
Article
Medicine, General & Internal
Nosakhare Paul Ilerhunmwuwa, Sheena Thayyil, Hrushikesh Divyateja, Ravikanth Gouni
Summary: An 82-year-old woman was admitted to the hospital due to feeling unwell, abdominal pain, and constipation for 4 weeks. Further investigations revealed severe hypercalcemia and ultimately diagnosed with sarcoidosis in the axillary lymph nodes. After treatment, her symptoms resolved, and this rare presentation of sarcoidosis in the axillary lymph nodes is uncommon.
Article
Genetics & Heredity
Dominik S. Westphal, Hannah Krafft, Ruth Biller, Karin Klingel, Jochen Gaa, Christoph S. Mueller, Eimo Martens
Summary: This article presents a case of ACM initially misdiagnosed as myocarditis and emphasizes the importance of molecular genetic testing in cases of recurrent or prolonged myocarditis.
Article
Medical Laboratory Technology
Ilya Gertsman, Wynonna S. Johnson, Connor Nishikawa, Jon A. Gangoiti, Bonnie Holmes, Bruce A. Barshop
CLINICAL CHEMISTRY
(2016)
Meeting Abstract
Endocrinology & Metabolism
Bruce A. Barshop, Ilya Gertsman, Jon A. Gangoiti
MOLECULAR GENETICS AND METABOLISM
(2016)
Meeting Abstract
Endocrinology & Metabolism
Kristen Wigby, Jaime Barea, Lynne Bird, Annette Feigenbaum, Bruce Barshop
MOLECULAR GENETICS AND METABOLISM
(2017)
Article
Endocrinology & Metabolism
Ilya Gertsman, Bruce A. Barshop
JOURNAL OF INHERITED METABOLIC DISEASE
(2018)
Article
Pharmacology & Pharmacy
Ranjan Dohil, Betty L. Cabrera, Jon A. Gangoiti, Bruce A. Barshop, Patrice Rioux
FUNDAMENTAL & CLINICAL PHARMACOLOGY
(2014)
Meeting Abstract
Endocrinology & Metabolism
Barry Byrne, Bruce Barshop, Richard Barohn, Lindsay Falk, Michael Fox, William Lang, Michelle Lossius, Sean McCarthy, Jayesh Vora, Jonathon LeBowitz
MOLECULAR GENETICS AND METABOLISM
(2012)
Meeting Abstract
Immunology
S. Emre, M. Brindle, T. Opladen, A. Khan, B. Barshop, B. Burton, M. Lindner, S. Martin, J. Meyberg, J. Haberle, J. Schenck, M. Seashore, M. Yudkoff, S. Kasting, W. Ruedinger, G. Hoffman
Article
Medical Laboratory Technology
William L. Nyhan, Karen McGowan, Bruce A. Barshop
CLINICA CHIMICA ACTA
(2019)
Article
Endocrinology & Metabolism
Garen Gaston, Jon A. Gangoiti, Shelley Winn, Benjamin Chan, Bruce A. Barshop, Cary O. Harding, Melanie B. Gillingham
JOURNAL OF INHERITED METABOLIC DISEASE
(2020)
Article
Multidisciplinary Sciences
Jennifer Concepcion, Katherine Chen, Rintaro Saito, Jon Gangoiti, Eric Mendez, Maria Eleni Nikita, Bruce A. Barshop, Loki Natarajan, Kumar Sharma, Jane J. Kim
Article
Endocrinology & Metabolism
Carlos R. Ferreira, Shamima Rahman, Markus Keller, Johannes Zschocke
Summary: The International Classification of Inherited Metabolic Disorders (ICIMD) is a comprehensive classification system involving input from a large number of experts and endorsement from major metabolic societies globally. It aims to improve understanding of the interconnections between different conditions sharing similar characteristics, and guarantees continued relevance through regular curation and expert advice.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Gastroenterology & Hepatology
Mary Catherine Sawh, Martina Wallace, Emma Shapiro, Nidhi P. Goyal, Kimberly P. Newton, Elizabeth L. Yu, Craig Bross, Janis Durelle, Cynthia Knott, Jon A. Gangoiti, Bruce A. Barshop, Jivani M. Gengatharan, Noah Meurs, Alexandra Schlein, Michael S. Middleton, Claude B. Sirlin, Christian M. Metallo, Jeffrey B. Schwimmer
Summary: The study evaluated the association between dairy fat intake and liver fat content in children, finding an inverse correlation between dairy fat intake, plasma C15:0, and plasma iso-C17:0 with hepatic steatosis. These findings suggest potential benefits of dairy fat intake on liver health in children, warranting further clinical trials for validation and potential inclusion in dietary guidelines.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2021)
Article
Oncology
Huimin Geng, Mazie Tsang, Lakshmipriya Subbaraj, Joseph Cleveland, Lingjing Chen, Ming Lu, Jigyasa Sharma, Daniel B. Vigneron, John Kurhanewicz, Marisa LaFontaine, Tracy Luks, Bruce A. Barshop, Jon Gangoiti, Javier E. Villanueva-Meyer, James L. Rubenstein
Summary: This study provides evidence that tumor metabolism, particularly lactate production and Warburg metabolism, may impact neurotransmitter dysregulation and neurocognition in CNS lymphomas. There is a reproducible correlation between changes in lactate and GABA concentrations, with high lactate and low GABA correlating significantly with lower MMSE scores. The findings suggest potential metabolomic biomarkers for future studies of neurocognition in CNS lymphomas.
Article
Radiology, Nuclear Medicine & Medical Imaging
Charles Q. Li, Bruce A. Barshop, Annette Feigenbaum, Paritosh C. Khanna
JOURNAL OF RADIOLOGY CASE REPORTS
(2018)