Search Our Scientific Publications & Authors

Neuromuscul Disord 2022 Apr 30. Epub 2022 Apr 30.

Division of Birth Defects and Infant Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, MS S106-3, 4770 Buford Hwy, Chamblee, GA 30341-3717, United States of America.

Population-based estimates of survival among individuals with Duchenne muscular dystrophy (DMD) living in the United States are lacking. It is also unclear whether the association between glucocorticoid use and all-cause mortality persists in the context of other common treatments (cardiac medication, cough-assist, bilevel positive airway pressure, and scoliosis surgery) observed to delay mortality. Among 526 individuals identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network, the estimated median survival time from birth was 23. Read More

J Med Genet 2022 May 20. Epub 2022 May 20.

Department of Molecular Neurobiology, Aichi Developmental Disability Center, Kasugai, Japan

Background: encodes a Rho family small GTPase that regulates the behaviour and organisation of actin cytoskeleton and intracellular signal transduction. Variants in can cause a phenotypically heterogeneous neurodevelopmental disorder with structural brain anomalies and dysmorphic facies. The pathomechanism of this recently discovered genetic disorder remains unclear. Read More

Brain Nerve 2022 May;74(5):537-544

Department of Neurology, Nara Medical University School of Medicine.

Among idiopathic inflammatory myopathies, dermatomyositis and immune-mediated necrotizing myopathy are distinguished by their different clinicopathological features. Corticosteroids are administered as the first-line treatment for both, and immunosuppressive agents and intravenous immunoglobulin important second-line treatments. Since some patients show resistance to these therapies, it is necessary to considering additional treatment based on muscle pathology, muscle imaging, and systemic complications such as malignancy and interstitial lung disease, in addition to the careful evaluation of muscle strength. Read More

Mol Genet Metab 2022 Apr 27. 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

J Foot Ankle Res 2022 May 19;15(1):38. Epub 2022 May 19.

Movement Analysis Laboratory, IRCCS Istituto Ortopedico Rizzoli, Via di Barbiano 1/10, 40136, Bologna, Italy.

Ankle-Foot Orthoses (AFO) can be prescribed to allow drop-foot patients to restore a quasi-normal gait pattern. Standard off-the-shelf AFOs are cost-effective solutions to treat most patients with foot and ankle weakness, but these devices have several limitations, especially in terms of comfort. Therefore, custom AFOs are increasingly adopted to address drop-foot when standard solutions are not adequate. Read More

Nat Med 2022 May 18;28(5):911-923. Epub 2022 May 18.

Department of Immunobiology, Yale University School of Medicine, New Haven, CT, USA.

SARS-CoV-2 is not unique in its ability to cause post-acute sequelae; certain acute infections have long been associated with an unexplained chronic disability in a minority of patients. These post-acute infection syndromes (PAISs) represent a substantial healthcare burden, but there is a lack of understanding of the underlying mechanisms, representing a significant blind spot in the field of medicine. The relatively similar symptom profiles of individual PAISs, irrespective of the infectious agent, as well as the overlap of clinical features with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), suggest the potential involvement of a common etiopathogenesis. Read More

Sci Rep 2022 May 18;12(1):8268. Epub 2022 May 18.

Department of Abdominal Surgery, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Early recognition of elevated intraabdominal pressure (IAP) in critically ill patients is essential, since it can result in abdominal compartment syndrome, which is a life-threatening condition. The measurement of intravesical pressure is currently considered the gold standard for IAP assessment. Alternative methods have been proposed, where IAP assessment is based on measuring abdominal wall tension, which reflects the pressure in the abdominal cavity. Read More

Neuromuscul Disord 2022 May 2. Epub 2022 May 2.

Division of Neonatology, Department of Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada.

Chylothorax has been reported in rare cases of X-linked myotubular myopathy, but the pathophysiology of this association is not fully understood. We report a case of a neonate presenting prenatally with hydrops and chylothorax. The patient died at 17 days of life due to respiratory failure secondary to severe pulmonary hypertension. Read More

BMJ Case Rep 2022 May 18;15(5). Epub 2022 May 18.

Systemic Autoimmune and Rares Diseases Unit. Internal Medicine Department, Hospital Virgen del Rocio, Seville, Spain.

Calcinosis cutis (CC) is the umbrella term for calcium salt deposition on skin and subcutaneous tissue. We present a unique case of CC associated with anti-Mi2-positive dermatomyositis, having a distinctive distribution of subcutaneous calcifications appearing as a 'lumbar belt'. Treatment of CC remains challenging for clinicians due to a lack of high-quality evidence. Read More

Sci Transl Med 2022 May 18;14(645):eabj9152. Epub 2022 May 18.

Department of Surgery, Division of Plastic and Reconstructive Surgery, Stanford University School of Medicine, Stanford, CA 94305, USA.

Burns and other traumatic injuries represent a substantial biomedical burden. The current standard of care for deep injuries is autologous split-thickness skin grafting (STSG), which frequently results in contractures, abnormal pigmentation, and loss of biomechanical function. Currently, there are no effective therapies that can prevent fibrosis and contracture after STSG. Read More

J Cardiothorac Surg 2022 May 17;17(1):120. Epub 2022 May 17.

Department of Cardiothoracic Surgery, The First People's Hospital of Neijiang, Shizhong District, No. 1866, West Section of Hanan Avenue, Neijiang, 641000, Sichuan, China.

Background: Pulmonary lymphoepithelioma-like carcinoma (LELC) is a rare type of non-small cell lung cancer, which mostly occurred in non-smoking Asian populations. The prognosis of this tumor is better than other lung cancers. Polymyositis, a kind of idiopathic inflammatory myopathies, may negatively affect the prognosis of patients with lung cancer as a paraneoplastic syndrome (PNPS). Read More

BMC Musculoskelet Disord 2022 May 17;23(1):464. Epub 2022 May 17.

Department of Hand Surgery, Beijing Jishuitan Hospital, Fourth Clinical College of Peking University, No.31 Xinjiekou East Street, Xicheng District, Beijing, 100035, China.

Background: Neuromuscular choristomas (NMCs), are extremely rare developmental lesions that, have been previously established associated with recurrent fibromatosis after surgery, leading to several operations or even amputation. However, reports on the ultrasound imaging features and clinical conditions of NMCs are rare. The purpose of this study is to describe the ultrasound features and clinical analysis of NMCs to provide suggestions to identify the optimal management strategy. Read More

BMC Pediatr 2022 May 17;22(1):287. Epub 2022 May 17.

Department of Neurology Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, No.136 Zhongshan 2nd Road, Chongqing, 400014, China.

Background: Anti-α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) encephalitis is a rare autoimmune synaptic encephalitis associated with autoantibodies that cause a selective decrease in surface expression and changes in receptor localization. Anti-AMPAR encephalitis is poorly recognized, especially in children, and its clinical phenotype is incompletely described.

Case Presentation: We report a case of anti-AMPAR GluR1 antibody-mediated autoimmune encephalitis in a 12-year-old male. Read More

Neurol Neuroimmunol Neuroinflamm 2022 Jul 17;9(4). Epub 2022 May 17.

From the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China.

Background And Objectives: Sporadic late-onset nemaline myopathy (SLONM) is a treatable or otherwise fatal myopathy. Diagnosis of SLONM is still challenging, and no therapeutic consensus has been achieved. Here, we reported the clinicopathologic features and long-term follow-up data of SLONM in a Chinese cohort. Read More

BMJ Case Rep 2022 May 17;15(5). Epub 2022 May 17.

Medical Image Department, Neuroradiology Unit, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal.

BMJ Case Rep 2022 May 17;15(5). Epub 2022 May 17.

Barts and the London HPB Centre, Barts Health NHS Trust, London, London, UK

A woman in her 50s was undergoing a repeat liver resection surgery for recurrence of liver metastasis when the intravenous fluid flow was noted to be sluggish on multiple occasions. On the third examination of the right hand where the intravenous cannula was located, surgery was halted as there was extensive swelling from the hand to the biceps and the hand had started turning blue. A diagnosis of acute upper limb compartment syndrome secondary to extravasation exacerbated by metaraminol was made by the anaesthetist and surgeon. Read More

J Mol Diagn 2022 May 14. Epub 2022 May 14.

Molecular Diagnostic Laboratory, Montpellier University Hospital, Montpellier, France; PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France. Electronic address:

Titin protein is responsible for muscle elasticity. The TTN gene, composed of 364 exons, is subjected to extensive alternative splicing and leads to different isoforms expressed in skeletal and cardiac muscle. Variants in TTN are responsible for myopathies with a wide phenotypic spectrum and autosomal dominant or recessive transmission. Read More

Structure 2022 May 12. Epub 2022 May 12.

Department of Physiology and Cellular Biophysics, Columbia University, New York, NY, USA; Clyde & Helen Wu Center for Molecular Cardiology, Columbia University, New York, NY, USA. Electronic address:

The ryanodine receptor (RyR)/calcium release channel on the sarcoplasmic reticulum (SR) is required for excitation-contraction coupling in skeletal and cardiac muscle. Inherited mutations and stress-induced post-translational modifications result in an SR Ca leak that causes skeletal myopathies, heart failure, and exercise-induced sudden death. A class of therapeutics known as Rycals prevent the RyR-mediated leak, are effective in preventing disease progression and restoring function in animal models, and are in clinical trials for patients with muscle and heart disorders. Read More

Undersea Hyperb Med 2022 Second Quarter;49(2):233-248

Memorial Care Long Beach Memorial Medical Center, Long Beach, California U.S.

Acute traumatic ischemias are an array of disorders that range from crush injuries to compartment syndromes, from burns to frostbite and from threatened flaps to compromised reimplantations. Two unifying components common to these conditions are a history of trauma be it physical, thermal, or surgical coupled with ischemia to the traumatized tissues. Their pathophysiology resolves around the self-perpetuating cycle of edema and ischemia, and their severity represents a spectrum from mild, almost non-existent, to tissue death. Read More

JCI Insight 2022 May 17. Epub 2022 May 17.

Department of Developmental Biology, Washington University School of Medicine, St. Louis, United States of America.

Nemaline Myopathy (NM) is the most common congenital myopathy, characterized by extreme weakness of the respiratory, limb, and facial muscles. Pathogenic variants in Tropomyosin 2 (TPM2), which encodes a skeletal muscle specific actin binding protein essential for sarcomere function, cause a spectrum of musculoskeletal disorders that include NM as well as Cap Myopathy, congenital fiber type disproportion, and distal arthrogryposis (DA). The in vivo pathomechanisms underlying TPM2-related disorders are unknown, so we expressed a series of dominant, pathogenic TPM2 variants in Drosophila embryos and found four variants significantly affected muscle development and muscle function. Read More

Ann Med 2022 Dec;54(1):1403-1422

Department of Psychology, University of Jaén, Jaén, Spain.

Introduction: The pathophysiology of fibromyalgia (FM) is related to central sensitisation (CS) to pain. Algometry allows assessing CS based on dynamic evoked pain. However, current algometrýs protocols require optimising, unifying and updating. Read More

Disabil Rehabil 2022 May 17:1-13. Epub 2022 May 17.

Health Research Centre, Department of Education, Faculty of Educational Sciences, University of Almería, Almería, Spain.

Purpose: To analyze the effectiveness of resistance training programs (RTP) on strength, functional capacity, balance, general health perception, and fatigue for people with Multiple Sclerosis (MS) and to determine the most effective dose of RTP in this population.

Methods: Studies examining the effect of RTP on strength, functional capacity, balance, general health perception, and fatigue in MS patients were included. 44 studies were included. Read More

Rheumatology (Oxford) 2022 May 17. Epub 2022 May 17.

Myositis Support and Understanding, Lincoln, DE.

Objectives: Pain is commonly reported in people living with myositis. This study assesses the presence of pain in the subtypes of myositis as well frequency of opioid and non-opioid pain medication use.

Methods: A survey was developed and distributed by Myositis Support and Understanding, a patient-led advocacy organization, to members of its group. Read More

BMC Med Genomics 2022 May 16;15(1):113. Epub 2022 May 16.

Department of Otology and Skull Base Surgery, Eye Ear Nose and Throat Hospital, Fudan University, Shanghai, 200031, China.

Background: Hereditary hearing loss is a heterogeneous class of disorders that exhibits various patterns of inheritance and involves many genes. Variants in the EYA4 gene in DFNA10 are known to lead to postlingual, progressive, autosomal dominant nonsyndromic hereditary hearing loss.

Patients And Methods: We collected a four-generation Chinese family with autosomal-dominant nonsyndromic hearing loss (ADNSHL). Read More

Orphanet J Rare Dis 2022 May 16;17(1):201. Epub 2022 May 16.

Department of Cardiac Physiology, National Cerebral and Cardiovascular Center Research Institute, 6-1 Kishibe-Shimmachi, Suita, Osaka, 564-8565, Japan.

Background: The transient receptor potential cation channel subfamily V member 2 (TRPV2) is a stretch-sensitive calcium channel. TRPV2 overexpression in the sarcolemma of skeletal and cardiac myocytes causes calcium influx into the cytoplasm, which triggers myocyte degeneration. In animal models of cardiomyopathy and muscular dystrophy (MD), TRPV2 inhibition was effective against heart failure and motor function. Read More

Arthritis Res Ther 2022 May 16;24(1):111. Epub 2022 May 16.

CIRI/Rheumatology and Fraunhofer TMP, Goethe-University, Frankfurt, Germany.

Objective: To investigate the imaging characteristics and clinically assess heel enthesitis in spondyloarthritis (SpA) by applying in a post hoc analysis the Heel Enthesitis Magnetic Resonance Imaging Scoring system (HEMRIS) in blinded and centrally-read MRI data from the ACHILLES trial (NCT02771210).

Methods: ACHILLES included patients (≥18 years) with active psoriatic arthritis or axial SpA with clinical and MRI-positive heel enthesitis refractory to standard treatment. Patients were randomized to receive subcutaneous secukinumab 150/300 mg or placebo. Read More

Neurology 2022 May 16. Epub 2022 May 16.

Department of Neurology, University Hospitals Leuven, Leuven, Belgium

Background And Objectives: Limb-Girdle Muscular Dystrophy autosomal recessive type 12 (LGMDR12) is a rare hereditary muscular dystrophy for which outcome measures are currently lacking. We evaluated quantitative MRI and clinical outcome measures to track disease progression, in order to determine which tests could be useful in future clinical trials to evaluate potential therapies.

Methods: We prospectively measured the following outcome measures in all participants at baseline and after 1 and 2 years: six-minute walk distance (6MWD), 10-meter walk test (10MWT), Medical Research Council (MRC) sum scores, Biodex® isometric dynamometry, serum creatine kinase (CK) and 6-point Dixon MRI of the thighs. Read More

J Neurol Neurosurg Psychiatry 2022 May 16. Epub 2022 May 16.

Neurology Associates, Lincoln, Nebraska, USA.

Background: Coformulated sodium phenylbutyrate/taurursodiol (PB/TURSO) was shown to prolong survival and slow functional decline in amyotrophic lateral sclerosis (ALS).

Objective: Determine whether PB/TURSO prolonged tracheostomy/ventilation-free survival and/or reduced first hospitalisation in participants with ALS in the CENTAUR trial.

Methods: Adults with El Escorial Definite ALS ≤18 months from symptom onset were randomised to PB/ TURSO or placebo for 6 months. Read More

CMAJ 2022 May;194(19):E689-E690

Département de médecine interne, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, Inde

BMJ 2022 May 16;377:o1221. Epub 2022 May 16.

The BMJ.