Article
Genetics & Heredity
Rita Alfattal, Maryam Alfarhan, Adeeb M. Algaith, Buthaina Albash, Reem M. Elshafie, Asma Alshammari, Ahmad Alahmad, Fatima Dashti, Rasha Alsafi, Hind Alsharhan
Summary: Defects in respiratory chain complex III (CIII) lead to rare mitochondrial disorders that have distinct neuroradiological abnormalities. The molecular defects involving mitochondrial CIII assembly factors are still largely unknown. This report presents the clinical and radiological characteristics of a patient with LYRM7-associated mitochondrial leukoencephalopathy, as well as summarizes the previous findings on this condition.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Review
Biochemistry & Molecular Biology
Paresh Kumar Purohit, Neeru Saini
Summary: This study focuses on the role of mitomiRs in regulating mitochondrial function, cell metabolism, and related diseases, pointing out their potential value in disease treatment.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Takahiro Yamazaki, Sayuri Yamada, Konomi Ohshio, Miho Sugamata, Yuji Morita
Summary: Lactobacillus paracasei KW3110 has anti-inflammatory effects and prevents inflammatory stress-induced mitochondrial damage by promoting IL-10 production in mouse macrophages.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Endocrinology & Metabolism
Feixia Zhan, Xiaoli Liu, Ruilong Ni, Taotao Liu, Yuwen Cao, Jingying Wu, Wotu Tian, Xinghua Luan, Li Cao
Summary: Multiple mitochondrial dysfunction syndrome (MMDS) is a group of mitochondrial diseases caused by nuclear gene mutations, characterized by early onset, impaired neurological development, muscle weakness, and other symptoms. There are six identified types based on different genotypes, including IBA57 which encodes a protein crucial for mitochondrial enzyme activity.
METABOLIC BRAIN DISEASE
(2022)
Article
Medicine, Research & Experimental
Rohit Sharma, Bryn Reinstadler, Kristin Engelstad, Owen S. Skinner, Erin Stackowitz, Ronald G. Haller, Clary B. Clish, Kerry Pierce, Melissa A. Walker, Robert Fryer, Devin Oglesbee, Xiangling Mao, Dikoma C. Shungu, Ashok Khatri, Michio Hirano, Darryl C. De Vivo, Vamsi K. Mootha
Summary: This study identified 20 circulating markers that can distinguish patients with MELAS from controls, including both classic and recently identified mitochondrial markers. These markers correlate strongly with disease severity and are largely attributable to an elevated NADH/NAD(+) ratio.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Biology
Xiaoxu Chen, Mingyue Chen, Yuqing Zhu, Haifeng Sun, Yue Wang, Yuan Xie, Lianfu Ji, Cheng Wang, Zhibin Hu, Xuejiang Guo, Zhengfeng Xu, Jun Zhang, Shiwei Yang, Dong Liang, Bin Shen
Summary: A proof-of-concept study demonstrates the potential of using a screened DdCBE pair to correct homoplasmic mitochondrial mutations and restore mitochondrial function in induced pluripotent stem cells.
COMMUNICATIONS BIOLOGY
(2023)
Editorial Material
Clinical Neurology
Aarushi Jain, Vito P. Arena, Connolly Steigerwald, Maria J. Borja, Ilya Kister, Nicolas J. Abreu
Summary: This case report highlights the unusual presentation of CSF1R-related leukoencephalopathy initially diagnosed as multiple sclerosis, emphasizing the importance of considering adult-onset neurogenetic disorders in differential diagnosis.
Article
Multidisciplinary Sciences
Charley Xia, Sarah J. Pickett, David C. M. Liewald, Alexander Weiss, Gavin Hudson, W. David Hill
Summary: Neuroticism is a heritable trait influenced by mitochondrial DNA, and associations between mitochondrial haplogroups and genetic variation have been found. The study reveals the links between neuroticism and various facets, as well as the relationships between mitochondrial genetic variation and overall health.
NATURE COMMUNICATIONS
(2023)
Article
Clinical Neurology
S. D. Roosendaal, T. van de Brug, C. A. P. F. Alves, S. Blaser, A. Vanderver, N. Wolf, M. S. van der Knaap
Summary: Through MRI evaluation of 132 patients with known genetic defects in mitochondrial leukodystrophy, common features associated with mitochondrial disease were identified, along with specific MRI patterns correlating with certain genotypes.
AMERICAN JOURNAL OF NEURORADIOLOGY
(2021)
Article
Chemistry, Multidisciplinary
Shuheng Tian, Yuchen Jiao, Zirui Gao, Yao Xu, Linke Fu, Hui Fu, Wu Zhou, Chaoquan Hu, Guosheng Liu, Meng Wang, Ding Ma
Summary: A one-pot catalytic method has been demonstrated to convert polylactic acid into alanine using a Ru/TiO2 catalyst and ammonia solution treatment. The process achieves a 77% yield of alanine at 140 degrees C with an overall selectivity of 94% through recycling experiments.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
(2021)
Review
Polymer Science
Jiaming Yu, Shengchao Xu, Biao Liu, Hailan Wang, Fengmin Qiao, Xiulian Ren, Qifeng Wei
Summary: Poly(lactic acid) (PLA) plastics are of great significance to the sustainable development of the world. The production of PLA involves the synthesis of lactide (LT) from lactic acid (LA) and the subsequent ring-opening polymerization. The quality and capacity of LA and LT directly affect the production and properties of PLA. This review summarizes the recent research progress on LA, LT, and PLA, and highlights the latest methods with significant advantages in energy consumption, reaction integration, efficiency, and yield in the production process.
EUROPEAN POLYMER JOURNAL
(2023)
Article
Chemistry, Multidisciplinary
Sofia-Maria Ioannidou, Jose Pablo Lopez-Gomez, Joachim Venus, Miguel Angel Valera, Vera Essmann, Irantzu Alegria-Dallo, Ioannis K. Kookos, Apostolis Koutinas, Dimitrios Ladakis
Summary: Process design, techno-economic assessment, and life cycle assessment methods were used to evaluate four biorefinery concepts utilizing the organic fraction of municipal solid waste (OFMSW) for the production of biosurfactants and lactic acid (LA), succinic acid (SA), hot melt adhesives (HMAs), or polyurethane urea dispersions (PUDs). LA and SA were produced through fermentation using sugar-rich OFMSW enzymatic hydrolysates, while biosurfactants were produced from OFMSW-derived lipids and proteins and bacterial biomass remaining at the end of fermentation. OFMSW-derived SA replaced fossil-based SA and adipic acid in PUDs production. The study employed process design for equipment sizing and costing, as well as the estimation of material and energy balances using experimental results obtained during the H2020 funded PERCAL project. HMAs and PUDs production could be profitable when biosurfactants are produced as co-products in OFMSW-based biorefineries, resulting in minimum selling prices (MSP) of $2.92 per kg (HMAs) and $1.95 per kg (PUDs) when considering biosurfactants market price of $4.1 per kg, OFMSW management fees of $0.035 per kg, and production capacities of SA and LA at economies of scale. If LA or SA are considered as final products together with biosurfactants, then the corresponding MSPs are $1.58 per kg (LA) and $2.14 per kg (SA). Five environmental indicators were estimated, considering either conventional electricity production mix (grid) or renewable electricity usage from photovoltaics. The proposed OFMSW-based biorefineries lead to 25-35% greenhouse gas emission savings per kg main product (or 0.95-2.06 kg CO2-eq per kg dry OFMSW) compared to conventional production of end-products and two OFMSW management practices based on either landfilling alone or combined composting (37.45%) and landfilling (62.55%). The results demonstrate that OFMSW-based biorefineries could lead to profitable and sustainable production of bio-based products and the utilization of OFMSW as feedstock.
Review
Biochemistry & Molecular Biology
Annalisa Tassone, Maria Meringolo, Giulia Ponterio, Paola Bonsi, Tommaso Schirinzi, Giuseppina Martella
Summary: Strong evidence suggests that the decline in mitochondrial function is correlated with degenerative diseases. Various types of neurodegenerative diseases, such as Huntington's chorea and Parkinson's disease, share mitochondrial bioenergy dysregulation as a common feature. These diseases have different manifestations and genetic factors, but they both involve neuronal dysfunction and striatal impairment. This review focuses on describing the onset and development of both diseases in relation to mitochondrial dysfunction.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Food Science & Technology
Agnieszka Zapasnik, Barbara Sokolowska, Marcin Bryla
Summary: Fermentation by lactic acid bacteria is an ancient form of food preservation. Lactic acid bacteria have antimicrobial activity against foodborne pathogens and the ability to neutralize mycotoxin. This activity is mainly due to the production of metabolites such as lactic acid, organic acids, hydroperoxide, and bacteriocins. The use of lactic acid bacteria may provide an alternative to chemical preservatives in biopreservation.
Review
Pharmacology & Pharmacy
Komal Kalani, Poonam Chaturvedi, Pankaj Chaturvedi, Vinod Kumar Verma, Nand Lal, Sudhir K. Awasthi, Anuradha Kalani
Summary: Mitochondrial function is crucial for neuronal health due to their high energy demand. Dysfunction in mitochondria exacerbates neurodegenerative diseases like Alzheimer's disease. Mitophagy, the process of eliminating dysfunctional mitochondria, plays a protective role in attenuating neurodegenerative disorders. However, disruptions in the mitophagy process and the release of proinflammatory mtDNA can contribute to AD pathology. This review critically examines the factors influencing mitochondrial impairment and different mitophagy processes in AD, as well as potential therapeutic molecules studied in mouse models and clinical trials.
DRUG DISCOVERY TODAY
(2023)
Article
Clinical Neurology
Itay Tokatly Latzer, Jonathan Roth, Shlomi Constantini, Gustavo Malinger, Alina Weissmann-Brenner, Liat Ben-Sira, Aviva Fattal-Valevski, Hadas Meirson
Summary: A follow-up study on children born with IAC showed that most of them had normal neurodevelopmental outcomes, without behavioral, social, or communication problems.
CHILDS NERVOUS SYSTEM
(2021)
Article
Genetics & Heredity
Roee Birnbaum, Adi Winsteen, Michael Brusilov, Igal Wolman, Liat Ben-Sira, Gustavo Malinger, Karina Krajden Haratz
Summary: The study revealed that fetal CMV infection may lead to focal GM changes, often accompanied by LSV, in late pregnancy. These changes may be isolated or part of a more generalized brain damage, with a favorable prognosis when isolated.
PRENATAL DIAGNOSIS
(2021)
Article
Clinical Neurology
Aviva Fattal-Valevski, Liat Ben Sira, Tally Lerman-Sagie, Rachel Strausberg, Aviva Bloch-Mimouni, Simon Edvardson, Rami Kaufman, Veronika Chernuha, Nira Schneebaum Sender, Gali Heimer, Bruria Ben Zeev
Summary: The study examined patients with a homozygous founder mutation c.1112T>C in MED17 gene, leading to postnatal progressive microcephaly. Patients showed a unique clinical phenotype with severe intellectual disability, epilepsy, and progressive spasticity. MRI findings revealed marked cerebral and cerebellar atrophy in these patients.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Moran Hausman-Kedem, Liat Ben-Sira, Debora Kidron, Shay Ben-Shachar, Rachel Straussberg, Daphna Marom, Penina Ponger, Anat Bar-Shira, Gustavo Malinger, Aviva Fattal-Valevski
Summary: Genetic alterations in COL4A2 are less common than those of COL4A1 and their fetal phenotype has not been described to date. In this study, a three-generation family with an intragenic deletion in COL4A2 associated with prenatal intracerebral hemorrhage (ICH) and various cerebrovascular manifestations is reported. The study provides genetic evidence of prenatal ICH and highlights the variable phenotype and partial penetrance of this disease.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Endocrinology & Metabolism
Ayelet Zerem, Liat Ben-Sira, Nitzan Vigdorovich, Zvi Leibovitz, Yael Fisher, Raphael Schiffmann, Yulia Grishchuk, Albert L. Misko, Naama Orenstein, Dorit Lev, Tally Lerman-Sagie, Debora Kidron
Summary: This study describes novel fetal brain MRI and neuropathology findings in a fetus with Mucolipidosis type IV, showing prenatal white matter involvement, significant activation of microglia and astrocytes, and impaired iron metabolism.
METABOLIC BRAIN DISEASE
(2021)
Article
Acoustics
K. Krajden Haratz, P. Oliveira Szejnfeld, M. Govindaswamy, Z. Leibovitz, L. Gindes, M. Severino, A. Rossi, D. Paladini, R. Garcia Rodriguez, L. Ben-Sira, T. Borkowski Tillman, R. Gupta, G. Lotem, N. Raz, T. E. N. K. Hamamoto, D. Kidron, A. Arad, R. Birnbaum, M. Brussilov, L. Pomar, Y. Vial, R. J. Leventer, G. McGillivray, M. Fink, W. Krzeszowski, A. Fernandes Moron, D. Lev, M. Tamarkin, J. Shalev, J. Har Toov, T. Lerman-Sagie, G. Malinger
Summary: This study describes the prenatal neuroimaging spectrum of rhombencephalosynapsis (RES) and provides criteria for its classification based on the severity of vermian anomaly. The findings indicate that a diagnosis of RES should be considered in fetuses with small transverse cerebellar diameter (TCD) or round-shaped cerebellum on axial views, especially when associated with ventriculomegaly. Partial RES is more common than previously thought, but poses a diagnostic challenge, particularly in cases with normal or nearly normal cerebellar morphology.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2021)
Article
Medicine, General & Internal
Hadar Rosen, Yossi Bart, Rita Zlatkin, Liat Ben-Sira, Dafna Ben Bashat, Sharon Amit, Carmit Cohen, Gili Regev-Yochay, Yoav Yinon
Summary: A study on pregnant women infected with SARS-CoV-2 showed that early gestational infection was not associated with vertical transmission and did not significantly impact fetal and perinatal outcomes.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Anesthesiology
Shahar Shalev, Liat Ben-Sira, Oshri Wasserzug, Ruth Shaylor, Shelly I. Shiran, Margaret Ekstein
Summary: Recent advancements in 3D printing technology have introduced new opportunities in clinical medicine, particularly for planning complex surgeries and prenatal treatment. This study demonstrates the first use of 3D printing technology to create a fetal airway model for planning an ex utero intrapartum treatment procedure.
JOURNAL OF ANESTHESIA
(2021)
Article
Genetics & Heredity
Michal Gafner, Marina Michelson, Emanuela Argilli, Keren Yosovich, Elliott H. Sherr, Kendall C. Parks, Eleina M. England, Ronen Hady-Cohen, Zvi Leibovitz, Dorit Lev, Yael Michaeli-Yosef, Tally Lerman-Sagie, Lubov Blumkin
Summary: Through case reports from two unrelated families, it was revealed that BCORL1 gene mutations may lead to major brain developmental abnormalities including hypoplastic corpus callosum, septal agenesis, and unilateral perisylvian polymicrogyria. The mothers of these patients were carriers of the mutated gene, indicating a potential influence of BCORL1 on brain development.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Roee Birnbaum, Ofer Markovitch, Tal Biron-shental, Debora Kidron, Liat Ben-Sira, Shira Litz Philipsborn, Eyal Reinstein
Summary: Pathogenic variants in the ZBTB18 gene have been found for the first time in a fetus, showing features such as intrauterine growth restriction, diminished long bones growth, single umbilical artery, and a short corpus callosum. The challenging diagnosis of this disorder highlights the importance of targeted follow-up and high clinical suspicion throughout pregnancy.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Daphna Link-Sourani, Netanell Avisdris, Shaul Harel, Liat Ben-Sira, Tuvia Ganot, Zoya Gordon, Ariel Many, Dafna Ben Bashat
Summary: Advanced MRI methods are used to assess human placenta to understand structure-function interplay and pregnancy risks. This study characterized ex-vivo human placental structure and function using MRI and identified imaging-markers for placentas at risk for dysfunction. Results showed correlation between placental function, umbilical cord centricity index, and birth weight, suggesting potential markers for identifying placental dysfunction risk.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2022)
Article
Clinical Neurology
Omar Abdel-Mannan, Ainat Klein, Anat Bachar Zipori, Liat Ben-Sira, Aviva Fattal-valevski, Yael Hacohen, Hadas Meirson
Summary: This study presents a case of radiologically isolated longitudinally extensive optic neuritis in a 12-year-old female with positive serum AQP4-Ab. The patient was asymptomatic and showed resolution of imaging changes after immune therapy. The discussion highlights the pathogenicity of AQP4-Ab in sub-clinical disease and the need for prognostic biomarkers to guide optimal therapy for patients with AQP4-Ab NMOSD.
MULTIPLE SCLEROSIS JOURNAL
(2022)
Article
Acoustics
Y. Yaron, V. Ofen Glassner, A. Mory, N. Zunz Henig, A. Kurolap, A. Bar Shira, D. Brabbing Goldstein, D. Marom, L. Ben Sira, H. Baris Feldman, G. Malinger, K. Krajden Haratz, A. Reches
Summary: This study compared the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in fetuses with central nervous system (CNS) anomalies. The results showed that ES provided a high diagnostic yield for severe CNS structural anomalies and may be considered as a first-tier test for prenatal diagnosis, detecting both sequence variants and copy-number variants (CNVs).
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Medicine, Research & Experimental
Ben Katz, Rachel Zaguri, Simon Edvardson, Channa Maayan, Orly Elpeleg, Shaya Lev, Elyad Davidson, Maximilian Peters, Shlomit Kfir-Erenfeld, Esther Berger, Shifa Ghazalin, Alexander M. Binshtok, Baruch Minke
Summary: This study provides direct evidence in humans for pain-related functional changes linked to TRPV1, a potential target in the development of pain relievers. Two individuals carrying a homozygous missense mutation in TRPV1 demonstrated insensitivity to heat stimulation, elevated pain thresholds, and abnormal responses to a TRPA1 channel activator. These findings highlight the importance of TRPV1 in pain modulation and may contribute to the development of novel pain therapies.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Netanell Avisdris, Daphna Link Sourani, Liat Ben-Sira, Leo Joskowicz, Gustavo Malinger, Simcha Yagel, Elka Miller, Dafna Ben Bashat
Summary: This study successfully differentiated hypo-/hypertelorism in fetuses using automatic biometric measurements and machine learning classification based on MRI. The results showed that the newly defined ratios and the ML multi-parametric classifier improved the accuracy of distinguishing abnormal from normal fetuses with the condition. The developed fully automatic method demonstrated high performance on varied clinical imaging data.
EUROPEAN RADIOLOGY
(2023)
Article
Clinical Neurology
Karlijn Bouman, Jeroen L. M. van Doorn, Jan T. Groothuis, Peter J. Wijkstra, Baziel G. M. van Engelen, Corrie E. Erasmus, Jonne Doorduin, Nicol C. Voermans
Summary: The majority of LAMA2-MD and all SELENON-RM patients had respiratory impairment. SELENON-RM patients showed lower respiratory function which was progressive, more prevalent mechanical ventilation, and more severe diaphragm atrophy and dysfunction than LAMA2-MD patients. Spirometry (FVC%, dVC) and respiratory muscle strength tests (SNIP) are useful in clinical care and as outcome measure in clinical trials.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Oliviero Bruni, Maria Breda, Emanuela Malorgio, Paolo Brambilla, Flavia Ceschin, Andrea Di Pilla, Maurizio Elia, Raffaele Ferri
Summary: This study aimed to describe the use of melatonin by Italian pediatricians in healthy children with chronic insomnia. The results showed that a high percentage of pediatricians prescribed melatonin, especially in children aged 1-2 years. The most common dosage was 1 mg/day and it was usually recommended to be taken 30 minutes before bedtime. Melatonin was often combined with sleep hygiene and was found to be effective in reducing difficulties falling asleep.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Pavel Seeman, Jana Zarubova, Petr Marusic, Pavel Krsek, Hana Krijtova, Alena Musilova, Petra Lassuthova
Summary: In this study, whole exome sequencing (WES) was performed to identify causal variants for developmental and epileptic encephalopathies (DEEs) in patients whose genetic diagnosis was not determined by gene panel testing. The results showed that WES can successfully identify disease-causing variants, even after inconclusive gene panel testing. Detailed clinical evaluations and phenotype-genotype correlation studies were conducted to better understand the rare subtypes of DEEs.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)