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Best Pract Res Clin Rheumatol 2022 Jun 22:101764. Epub 2022 Jun 22.

Department of Neurology, Amsterdam University Medical Centers, Amsterdam, the Netherlands. Electronic address:

Idiopathic inflammatory myopathies are a heterogeneous set of systemic inflammatory disorders primarily affecting muscle. Signs and symptoms vary greatly between and within subtypes, requiring supportive laboratory and pathologic evidence to confirm the diagnosis. Several studies are typical assessments for patients with suspected inflammatory myopathy, including muscle enzymes, autoimmune markers, imaging, and muscle biopsy. Read More

Biomolecules 2022 Jun 11;12(6). Epub 2022 Jun 11.

Laboratório de Imunopatologia, Departamento de Imunobiologia, Universidade Federal Fluminense, Niterói, Rio de Janeiro 24210-201, Brazil.

Muscle injuries are frequent in individuals with genetic myopathies and in athletes. Skeletal muscle regeneration depends on the activation and differentiation of satellite cells present in the basal lamina of muscle fibers. The skeletal muscle environment is critical for repair, metabolic and homeostatic function. Read More

Int J Biochem Cell Biol 2022 Jun 20:106246. Epub 2022 Jun 20.

Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, College of Animal Science and Technology &College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, 430070, China. Electronic address:

Muscular dysplasia is a common muscle disease, but its pathological mechanism is still unclear. Adipose is originally identified as a highly conservative and widely expressed anti-obesity gene, and our previous study has reported that Adipose is also a positive regulator of myogenesis. Considering the vital role of during muscle development, this study was to demonstrate a potential relationship between Sirtuin1 and Adipose and clarified the mechanism by which Adipose regulated muscle development. Read More

Metabolites 2022 Jun 17;12(6). Epub 2022 Jun 17.

UMR 1253, iBrain, University of Tours, Inserm, 37044 Tours, France.

The transcription factor Krüppel-like factor 10 (), also known as Tieg1 for TGFβ (Inducible Early Gene-1) is known to control numerous genes in many cell types that are involved in various key biological processes (differentiation, proliferation, apoptosis, inflammation), including cell metabolism and human disease. In skeletal muscle, particularly in the soleus, deletion of the gene ( KO) resulted in ultrastructure fiber disorganization and mitochondrial metabolism deficiencies, characterized by muscular hypertrophy. To determine the metabolic profile related to loss of expression, we analyzed blood and soleus tissue using UHPLC-Mass Spectrometry. Read More

J Clin Res Pediatr Endocrinol 2022 Jun 23. Epub 2022 Jun 23.

Gazi Yasargil Training and Research Hospital, Pediatric Endocrinology, Diyarbakır, Turkey.

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metreleptin) has been suggested as an effective treatment option. Read More

N Z Med J 2022 Feb 4;135(1549):117-119. Epub 2022 Feb 4.

Metabolic Consultant, National Metabolic Service, Auckland City and Starship Children's Hospital.

Orphanet J Rare Dis 2022 06 20;17(1):241. Epub 2022 Jun 20.

Division of Metabolism, Department of Pediatric Subspecialties, Ospedale Pediatrico Bambino Gesù, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.

Background: Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but muscular and renal tubular involvement, dyslipidemia and osteopenia can develop. Considering the paucity of literature available, herein we provide a narrative review of these latter forms of GSDs. Read More

BMC Med Genomics 2022 Jun 20;15(1):139. Epub 2022 Jun 20.

Department of Rheumatology, Hospital de Pediatría, CMN Siglo XXI IMSS, Mexico City, Mexico.

Background: Dysferlinopathy encompasses a group of rare muscular dystrophies caused by recessive mutations in the DYSF gene. The phenotype ranges from asymptomatic elevated serum creatine kinase (hyperCKemia) to selective and progressive involvement of the proximal and/or distal muscles of the limbs. Bohan and Peter criteria are the most widely used for the diagnosis of polymyositis, but they have limitations and can misclassify muscular dystrophies with inflammation as polymyositis. Read More

J Med Food 2022 Jun;25(6):565-575

R&D Center, Enterobiome Inc., Siksa-dong, Ilsandong-gu, Goyang-si, Korea.

Muscular atrophy is a muscle disease in which muscle mass and strength decrease due to aging, injury, metabolic disorders, or chronic conditions. Proteins in muscle tissue are degraded by the ubiquitin-proteasome pathway, and atrophy accelerates this pathway. and strains are effective agents against metabolic and inflammatory diseases in next-generation probiotic research. Read More

Cureus 2022 May 7;14(5):e24817. Epub 2022 May 7.

Pulmonology and Critical Care, Henry Ford Health System, Detroit, USA.

Rhabdomyolysis is a common cause of admission to the intensive care unit. However, recurrent rhabdomyolysis remains a rare encounter for intensivists and presents a challenge in terms of identifying its etiology. Considerations of metabolic myopathies as a culprit remain underexplored. Read More

Am J Case Rep 2022 Jun 8;23:e936407. Epub 2022 Jun 8.

Department of Internal Medicine, HANSUNG Union Internal Medicine Clinic and Dialysis Center, Daegu, South Korea.

BACKGROUND Rhabdomyolysis is a clinical syndrome characterized by elevated serum creatine kinase (CK) and myoglobin levels due to the breakdown of muscle fibers and is associated with symptoms such as myalgia, muscle swelling, and erythruria. Rhabdomyolysis has an array of potential causes, including Salmonella infection, although rare. We report 2 cases in which nontyphoidal salmonellae caused acute gastroenteritis complicated by rhabdomyolysis and myoglobinuric acute kidney injury (AKI). Read More

Front Nutr 2022 20;9:878306. Epub 2022 May 20.

Tecnológico de Monterrey, Escuela de Ingeniería y Ciencias, Monterrey, Mexico.

Medicinal plants possess natural compounds that can be used as an alternative for synthetic medicines that may cause long-term side effects on patients such as neurocognitive effects, muscular and hepatic toxicity. Metabolic Syndrome is associated with increased risk of several diseases such as diabetes, cardiovascular disease, dyslipidemia, and hypertension thus, becoming the greatest challenge as a growing public health concern worldwide. Latin-American countries possess a wide diversity of medicinal plants that have been used to treat different health conditions since pre-Hispanic times. Read More

J Clin Neurosci 2022 Jul 29;101:264-275. Epub 2022 Apr 29.

Respiratory Diseases Unit, Department of Medical and Surgical Sciences, University Hospitals of Modena, Italy.

Coronavirus disease 2019 (COVID-19), a disease caused by the novel betacoronavirus SARS-COV-2, has become a global pandemic threat. SARS- COV-2 is structurally similar to SARS-COV, and both bind to the angiotensin-converting enzyme 2 (ACE2) receptor to enter human cells. While patients typically present with fever, shortness of breath, sore throat, and cough, in some cases neurologic manifestations occur due to both direct and indirect involvement of the nervous system. Read More

Front Pharmacol 2022 16;13:869842. Epub 2022 May 16.

Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.

Orphan drugs are used for the diagnosis, prevention and treatment of rare diseases that, in the European Union, are defined as disorders affecting no more than 5 persons in 10,000. So far, a total of around 800 orphan medicinal products have been approved by the European Medicines Agency, however the utilization profile of orphan drugs has yet to be explored. This study aimed at assessing the utilization profile of orphan drugs authorized for marketing by the Italian Medicines Agency using population-based data. Read More

J Spec Oper Med 2022 May;22(2):43-47

Crush injuries present a challenging case for medical providers and require knowledge and skill to manage the subsequent damage to multiple organ systems. In an austere environment, in which resources are limited and evacuation time is extensive, a medic must be prepared to identify trends and predict outcomes based on the mechanism of injury and patient presentation. These injuries occur in a variety of environments from motor vehicle accidents (at home or abroad) to natural disasters and building collapses. Read More

Viruses 2022 04 22;14(5). Epub 2022 Apr 22.

Silesian Park of Medical Technology Kardio-Med Silesia, M. Curie-Skłodowskiej 10C, 41-800 Zabrze, Poland.

Background: This study aimed to investigate the early and longitudinal humoral response in Healthcare Workers (HCWs) after two doses of the BNT162b2 vaccine and to assess the association between metabolic and anthropometric parameters and the humoral response after vaccination.

Methods: The study included 243 fully vaccinated HCWs: 25.50% previously infected with SARS-CoV-2 (with prior history of COVID-19-PH) and 74. Read More

Metabolites 2022 Apr 29;12(5). Epub 2022 Apr 29.

Laboratory of Endocrine Physiology and Physical Exercise, Department of Physiological Sciences, Federal University of São Carlos, São Carlos 13565-905, São Paulo, Brazil.

A deficit of estrogen is associated with energy substrate imbalance, raising the risk of metabolic diseases. Physical training (PT) is a potent metabolic regulator through oxidation and storage of substrates transported by GLUT4 and FAT CD36 in skeletal muscle. However, little is known about the effects of PT on these carriers in an estrogen-deficit scenario. Read More

J Clin Med 2022 May 12;11(10). Epub 2022 May 12.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.

Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis and next-generation sequencing. The rate of diagnosis increased exponentially with the addition of genes to successive versions of the INMD panel, from 31% for the first iteration (278 genes) to 40% for the last (324 genes). Read More

Int J Mol Sci 2022 May 19;23(10). Epub 2022 May 19.

Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Sorbonne Université, F-75013 Paris, France.

Mutations in profilin 1 (PFN1) have been identified in rare familial cases of Amyotrophic Lateral Sclerosis (ALS). PFN1 is involved in multiple pathways that could intervene in ALS pathology. However, the specific pathogenic role of PFN1 mutations in ALS is still not fully understood. Read More

Diagnostics (Basel) 2022 Apr 30;12(5). Epub 2022 Apr 30.

Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.

Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by the selective loss of adipose tissue. Its estimated prevalence is as low as 1 in 1 million. The deficiency of metabolically active adipose tissue is closely linked with a wide range of metabolic complications, such as insulin resistance, lipoatrophic diabetes, dyslipidemia with severe hypertriglyceridemia, hypertension or hepatic steatosis. Read More

Cell Mol Life Sci 2022 May 27;79(6):321. Epub 2022 May 27.

Department of Movement Sciences, Exercise Physiology Research Group, KU Leuven, 3001, Leuven, Belgium.

Background: Skeletal muscles (SkM) are mechanosensitive, with mechanical unloading resulting in muscle-devastating conditions and altered metabolic properties. However, it remains unexplored whether these atrophic conditions affect SkM mechanosensors and molecular clocks, both crucial for their homeostasis and consequent physiological metabolism.

Methods: We induced SkM atrophy through 14 days of hindlimb suspension (HS) in 10 male C57BL/6J mice and 10 controls (CTR). Read More

J Exp Clin Cancer Res 2022 May 26;41(1):183. Epub 2022 May 26.

CIBERehd, Madrid, Spain.

Background: Cholangiocarcinoma (CCA) is still a deadly tumour. Histological and molecular aspects of thioacetamide (TAA)-induced intrahepatic CCA (iCCA) in rats mimic those of human iCCA. Carcinogenic changes and therapeutic vulnerabilities in CCA may be captured by molecular investigations in bile, where we performed bile proteomic and metabolomic analyses that help discovery yet unknown pathways relevant to human iCCA. Read More

Neurology 2022 May 26. Epub 2022 May 26.

Friedrich-Baur-Institut, Department of Neurology Klinikum München, München, Germany.

Background And Objectives: Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA) and subsequent glycogen accumulation. Avalglucosidase alfa, a recombinant human GAA enzyme replacement therapy designed for increased cellular uptake and glycogen clearance, has been studied for long-term efficacy and safety in patients with late-onset Pompe disease (LOPD). Here we report up to 6. Read More

Mol Genet Genomics 2022 May 25. Epub 2022 May 25.

Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

The survival of motor neuron (SMN) genes, SMN1 and SMN2, are two highly homologous genes related to spinal muscular atrophy (SMA). Different patterns of alternative splicing have been observed in the SMN genes. In this study, the long-read sequencing technique for distinguishing SMN1 and SMN2 without any assembly were developed and applied to reveal multiple alternative splicing patterns and to comprehensively identify transcript variants of the SMN genes. Read More

Genome Med 2022 05 24;14(1):56. Epub 2022 May 24.

Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.

We describe a case series of five infants (age range: 1-90 days; 4 females and 1 male) who presented to Al Jalila Children's intensive care units (ICU) with complex multisystem disorders. Patients were Emirati, Kenyan, Jordanian, Filipino, or Pakistani. Trio rapid whole genome sequencing (rWGS) was performed on all five patients and their parents within the hospital's genomics facility. Read More

Sci Rep 2022 May 23;12(1):8666. Epub 2022 May 23.

Laboratory of Applied Microbiology, Department of Health Sciences (DiSS), Center for Translational Research on Allergic and Autoimmune Diseases (CAAD), School of Medicine, Università del Piemonte Orientale (UPO), Corso Trieste 15/A, 28100, Novara, Italy.

The spread of multidrug-resistant bacteria, such as the skin commensal Staphylococcus aureus, is a worldwide health challenge; new methods to counteract opportunistic pathogen growth and virulence are urgent. We compared the activity of Lacticaseibacillus rhamnosus LR06 (DSM 21981) and Lactobacillus johnsonii LJO02 (DSM 33828) cell-free supernatants (CFSs) produced in the conventional animal derivative-based MRS medium and an innovative animal derivative-free broth (TIL) versus the MDR S. aureus (ATCC 43300). Read More

Mol Genet Metab 2022 Jun 27;136(2):94-100. Epub 2022 Apr 27.

Division of Inborn Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, Via Orus 2B, 35129 Padua, Italy.

Phenylketonuria (PKU) is a metabolic inherited disorder in which transition from infancy to adult care is particularly difficult and not sufficiently regulated. According to the scientific literature, only few medical centers offer healthcare assistance for adult patients with PKU that are therefore still treated in pediatric settings. This generates psychological, emotional, and organizational discomfort among patients, leading them to discontinue the follow-up. Read More

Reumatol Clin (Engl Ed) 2022 May;18(5):273-278

Rheumatology Unit, University of Siena, Santa Maria alle Scotte Hospital, Siena, Italy.

Objectives: To investigate peripheral enthesitis with power Doppler ultrasound (PDUS) in patients presenting low back pain (LBP) and metabolic syndrome (MetS) in comparison with patients with only LBP, to correlate US scores with clinical-anthropometric characteristics, and to define any relationship between enthesitis and concurrent diffuse idiopathic hyperostosis syndrome (DISH).

Methods: Sixty outpatients with LBP and MetS, evaluated with multi-site entheseal PDUS, scoring inflammatory and structural damage changes, were retrospectively analyzed. A group of 60 subjects with LBP, without MetS and evaluated with the same protocol, was analyzed as the control group. Read More

Int J Environ Res Public Health 2022 04 28;19(9). Epub 2022 Apr 28.

Department of Biomedical Sciences for Health, Università degli Studi di Milano, 20133 Milan, Italy.

The aim of this case series was to evaluate the effectiveness of a dry-land home-training program conducted during the COVID-19 pandemic period in Paralympic swimmers. Previous evidence showed the importance of muscular strength and power training for Paralympic swimmers due to the positive relationship between severity of impairment, swimming technique and biomechanics parameters. Specifically, we aimed to analyze: (i) the effects of a customized training regime conducted pre, during and post restrictions on upper-body muscular strength and power (one repetition maximum, mean propulsive velocity, and mean relative propulsive power) compared to a regular gym-based program; (ii) the associations between mean propulsive velocity and load during two upper body exercises in order to estimate the one repetition maximum. Read More