Article
Medicine, General & Internal
Elham Maleki, Amir Baniasad, Mina Sepehran, Najmeh Davoudian
Summary: Monogenic diabetes mellitus, such as Wolcott-Rallison syndrome, is a rare condition that can present with DKA, especially when accelerated by COVID-19 infection. Recognizing the concurrency of COVID-19 and DKA is crucial in managing these cases.
CLINICAL CASE REPORTS
(2021)
Article
Endocrinology & Metabolism
Wafaa Laimon, Magdy El-Ziny, Amany El-Hawary, Ashraf Elsharkawy, Nanees Abdel-Badie Salem, Hadil Mohamed Aboelenin, Mohammad Hosny Awad, Sarah E. Flanagan, Elisa De Franco
Summary: This study aimed to define the genetic aetiology and clinical phenotypes of permanent neonatal diabetes mellitus (PNDM) in a large Egyptian cohort from a single center. The results showed that PNDM is a heterogenous disease with variable genotypes and clinical phenotypes among Egyptian patients, with EIF2AK3, INS, ABCC8, and KCNJ11 mutations being the commonest causes. The study also highlighted the importance of genetic testing for diagnosis, treatment plan, and prognosis of patients with neonatal diabetes mellitus.
ACTA DIABETOLOGICA
(2021)
Article
Biochemistry & Molecular Biology
Rebecca Young, Dylan E. Jones, Lautaro Diacovich, Andrzej Witkowski, Robert O. Ryan
Summary: An antibody-based method was used to detect and quantify 3-methylglutaconic aciduria, showing recognition of 3MGC-conjugated proteins by immune serum. Unexpectedly, trans-3MGC acid isomerized to cis-3MGC acid after conjugation, leading to the detection of 3MGCylated proteins. This non-enzymatic isomerization reaction could explain the presence of cis-3MGC acid in urine of individuals with 3MGC aciduria.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Review
Medical Laboratory Technology
Dylan E. Jones, Emma Klacking, Robert O. Ryan
Summary: 3-Methylglutaconic aciduria is a rare phenotypic feature associated with inborn errors of metabolism and compromised mitochondrial energy metabolism. It can be categorized into primary and secondary forms, with primary 3MGC aciduria resulting from deficiencies in leucine catabolism enzymes, and secondary 3MGC aciduria caused by the diversion of acetyl CoA due to interference with the TCA cycle. Through a series of biochemical processes, these two forms of 3MGC aciduria ultimately lead to the excretion of 3MGC acid in urine, serving as an overflow valve in muscle/brain tissue to redirect acetyl CoA when necessary.
CLINICA CHIMICA ACTA
(2021)
Article
Multidisciplinary Sciences
Yun Gi Kim, Yun Young Choi, Kyung-Do Han, Kyongjin Min, Ha Young Choi, Jaemin Shim, Jong-Il Choi, Young-Hoon Kim
Summary: The study found that patients with new-onset AF have a higher risk of developing VT, VFL, and VF, and the incidence of various ventricular arrhythmias significantly increases. The potential risk of suffering lethal ventricular arrhythmia in individuals with AF should be taken into consideration in clinical practice.
SCIENTIFIC REPORTS
(2021)
Article
Immunology
Lingtong Huang, Wei Wu, Yijing Zhu, Huili Yu, Lingling Tang, Xueling Fang
Summary: This article describes a patient with glutaric aciduria type IIC who presented with symptoms suggestive of hemophagocytic lymphocytosis (HLH). The diagnosis of glutaric aciduria type IIC was confirmed by whole exome sequencing. The patient was treated with coenzyme Q10 and riboflavin, which improved liver function. However, the patient eventually died from gastrointestinal bleeding.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Cell Biology
Haoran Sun, Jun Zhang, Qianqian Ye, Ting Jiang, Xueling Liu, Xiaoyang Zhang, Fanyu Zeng, Jie Li, Yue Zheng, Xianlin Han, Chuan Su, Yuguang Shi
Summary: Phosphatidylglycerol (PG) is a mitochondrial phospholipid that needs to be remodeled at the endoplasmic reticulum (ER) after mitochondrial biosynthesis to function properly. Defects in PG remodeling can lead to MEGDEL syndrome. LPGAT1, an acyltransferase, is identified as a candidate gene for MEGDEL syndrome and is involved in PG remodeling through interaction with the prohibitin/TIMM14 mitochondrial import motor. Deletion of LPGAT1 in mice results in features resembling MEGDEL syndrome.
Article
Cell Biology
Peihong Liu, Jiaxuan Li, Linghao Tang, Wei Cong, Han Jin, Hong Zhang, Bing Cui, Shan Yang, Jing Xiao, Chao Liu, Wuliji Saiyin
Summary: This study reveals that mutations in FAM20C primarily cause hypophosphatemia rickets or osteomalacia, and the skeletal manifestation of Rainne syndrome is influenced by other factors.
JOURNAL OF CELLULAR PHYSIOLOGY
(2023)
Article
Clinical Neurology
Dulika Sumathipala, Petter Stromme, Zohreh Fattahi, Torben Luders, Ying Sheng, Kimia Kahrizi, Ingunn Holm Einarsen, Jennifer L. Sloan, Hossein Najmabadi, Lambert van den Heuvel, Ron A. Wevers, Sergio Guerrero-Castillo, Lars Morkrid, Vassili Valayannopoulos, Paul Hoff Backe, Charles P. Venditti, Clara D. van Karnebeek, Hilde Nilsen, Eirik Frengen, Doriana Misceo
Summary: Mutations in the ZBTB11 gene are associated with intellectual disability. The study found that patients with ZBTB11 mutations showed atrophy in multiple brain regions and had malonic and methylmalonic aciduria as disease markers. In vitro experiments indicated that ZBTB11 regulates mitochondrial functions and RNA processing.
Article
Gastroenterology & Hepatology
Prashant Singh, Sarah Ballou, Vikram Rangan, Jesse Katon, Rafla Hassan, Johanna Iturrino, Anthony Lembo, Judy Nee
Summary: This study evaluated the factors associated with changes in functional dyspepsia (FD) symptom severity. The results showed that improvement in anxiety, lower baseline sleep disturbance, absence of irritable bowel syndrome (IBS), and higher baseline FD severity were associated with improvement in FD symptom severity.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Review
Oncology
Arindam Datta, Srijita Dhar, Sanket Awate, Robert M. Brosh
Summary: DNA helicases play crucial roles in genome stability and cancer cells, with potential for synthetic lethality through genetic interactions with other proteins.
Article
Endocrinology & Metabolism
Diego Martinelli, Giulio Catesini, Benedetta Greco, Alessia Guarnera, Chiara Parrillo, Evelina Maines, Daniela Longo, Antonio Napolitano, Francesca De Nictolis, Sara Cairoli, Daniela Liccardo, Stefania Caviglia, Anna Sidorina, Giorgia Olivieri, Barbara Siri, Roberto Bianchi, Gionata Spagnoletti, Luca Dello Strologo, Marco Spada, Carlo Dionisi-Vici
Summary: Liver and liver/kidney transplantation have positive effects on the neurological outcome of patients with methylmalonic aciduria. Improved biomarkers were observed in plasma, while biomarkers of mitochondrial dysfunction decreased in cerebrospinal fluid. Neurocognitive evaluation showed significant cognitive improvement and brain changes at MRI. Early transplantation is recommended due to long-term complications and low quality of life.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Endocrinology & Metabolism
Ulrike Muetze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C. Gruenert, Ute Spiekerkoetter, Rene Santer, Holger Blessing, Eva Thimm, Regina Ensenauer, Johannes Weigel, Skadi Beblo, Maria Arelin, Julia B. Hennermann, Thorsten Marquardt, Iris Marquardt, Peter Freisinger, Johannes Kraemer, Andrea Dieckmann, Natalie Weinhold, Mareike Keller, Magdalena Walter, Katharina A. Schiergens, Esther M. Maier, Georg F. Hoffmann, Sven F. Garbade, Stefan Koelker
Summary: This study evaluated the long-term clinical outcomes of 94 individuals with confirmed IVA, showing that NBS reduces mortality in classic IVA but does not reliably protect against severe neonatal metabolic decompensations. Individuals with mild IVA had excellent neurocognitive outcomes regardless of metabolic maintenance therapy, calling into question the benefit of NBS for this group. Uniform stratified therapeutic concepts are urgently needed.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Clinical Neurology
Emanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, Roberto H. Caraballo, Loretta Giuliano, Tulay Yilmaz, Alessandra Morano, Eleni Panagiotakaki, Francesca F. Operto, Beatriz Gonzalez Giraldez, Katri Silvennoinen, Sara Casciato, Marion Comajuan, Simona Balestrini, Francesco Fortunato, Antonietta Coppola, Giancarlo Di Gennaro, Angelo Labate, Vito Sofia, Gerhard J. Kluger, Dorothee G. A. Kasteleijn-Nolst Trenite, Antonio Gambardella, Betul Baykan, Sanjay M. Sisodiya, Alexis Arzimanoglou, Pasquale Striano, Carlo Di Bonaventura
Summary: This study investigated electrodinical endophenotypes and long-term seizure outcome in patients with eyelid myoclonia with absences (EMA). The results showed that early epilepsy onset was the most relevant prognostic factor for poor treatment response. Additionally, two distinct endophenotypes were identified, EMA-plus and EMA-only, which differed in terms of remission rates and cognitive outcomes.
Article
Engineering, Biomedical
Haiwei Liang, Yanxiao Ao, Wenjing Li, Kaini Liang, Baixue Tang, Junyang Li, Jianwei Wang, Xiaoyu Zhu, Yanan Du
Summary: This study aimed to assemble biomimetic 3D BM microniches by co-culturing HSPCs and MSCs, and transplant them into the BM cavity for the treatment of h-ARS. The results showed that these BM microniches can prolong the maintenance of HSPCs, promote hematopoietic reconstitution, and alleviate death from acute lethal radiation. Furthermore, the Notch signaling pathway plays a significant role in maintaining HSPCs.
BIOACTIVE MATERIALS
(2023)