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Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure.

Medicine (Baltimore) 2022 Jan;101(2):e28547

Institute of Genome Research, Vietnam Academy of Science and Technology, 18 - Hoang Quoc Viet Str., Caugiay, Hanoi, Vietnam.

Rationale: Hepatobiliary diseases such as biliary atresia (BA), Wilson disease, and progressive familial intrahepatic cholestasis are common causes of morbidity and mortality in young children. Affected patients progress rapidly to end-stage cirrhosis and require liver transplantation or die. Mutations in many genes have been identified to play an important role in the pathogenesis of hepatobiliary diseases. Read More

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January 2022

Role of NETosis in Central Nervous System Injury.

Oxid Med Cell Longev 2022 4;2022:3235524. Epub 2022 Jan 4.

Department of Orthopaedics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou 325027, China.

Central nervous system (CNS) injury is divided into brain injury and spinal cord injury and remains the most common cause of morbidity and mortality worldwide. Previous reviews have defined numerous inflammatory cells involved in this process. In the human body, neutrophils comprise the largest numbers of myeloid leukocytes. Read More

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January 2022

Ductus venosus reversed flow in omphalocele: Could it be a prognostic factor for long-term neurological impairment?

J Med Life 2021 Sep-Oct;14(5):726-730

Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.

Omphalocele (exomphalos) represents one of the most frequent congenital abdominal wall defects. It presents as a defect of inconstant size and is located on the midline, at the base of the umbilical cord, the skin, fascia, and abdominal muscles being absent at this level. Omphaloceles are classified as liver-containing or non-liver-containing, the latter containing primarily bowel loops. Read More

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Early prenatal diagnosis of an atypical phenotype of sacral spina bifida.

J Med Life 2021 Sep-Oct;14(5):716-721

Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.

Neural tube defects (NTDs) occur during embryogenesis, specifically during the fifth or sixth week of gestation, and are described as aberrant neural tube closing. The defect may alter the normal development of the vertebrae, spinal cord, cranium, or brain. The present study describes the case of a 41-year-old pregnant woman with fetal sacral meningocele, no associated pathologies, no family history of neural tube defects, a pregnancy under folate supplementation with the aim of highlighting the importance of ultrasound in diagnosing neural tube defects. Read More

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Severe complication subsequent to surgical site infection after cervical laminoplasty: a case report.

Spinal Cord Ser Cases 2022 Jan 14;8(1). Epub 2022 Jan 14.

Department of Orthopaedic Surgery, Nara Medical University, Nara, Japan.

Introduction: Surgical site infections (SSI) following spinal surgery can result in serious complications. Although early detection and intensive care are essential to minimize possible sequelae, more than one surgical intervention is required to alleviate the infection in some cases.

Case Presentation: A 66-year-old man with long-standing Parkinson's disease (PD) developed SSIs after cervical laminoplasty. Read More

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January 2022

Comparison of Three Different Cord Clamping Techniques Regarding Oxidative-antioxidative Capacity in Term Newborns.

Am J Perinatol 2022 Jan 13. Epub 2022 Jan 13.

Biochemistry, Gaziantep University, Gaziantep, Turkey.

Objective As newborns are exposed to oxidative stress during delivery, cord clamping techniques play significant role on antioxidant status. In this study, we aimed to show the relationship between early cord clamping (ECC), delayed cord clamping (DCC) and cut umblical cord milking (C-UCM) techniques with total oxidant capacity (TOC), total antioxidant capacity (TAC) and peroxynitrite levels. Study Design Sixty-nine term infants were selected with APGAR score of 7 and above in the first and fifth minutes. Read More

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January 2022

Pancreatic Cancer Metastasis to the Spine: A Systematic Review of Management Strategies and Outcomes with Case Illustration.

World Neurosurg 2022 Jan 10. Epub 2022 Jan 10.

Department of Neurological Surgery, The University of Texas Southwestern Medical Center; Department of Orthopaedic Surgery, The University of Texas Southwestern Medical Center; Spine Center, The University of Texas Southwestern Medical Center.

Objective: We aim to provide a thorough review of the literature regarding patient characteristics, treatment options, and outcomes of pancreatic cancer metastasis to the spine. We also provide an illustrative case from our institution of pancreatic adenocarcinoma presenting initially as cervical radiculopathy with an isolated cervical spine lesion.

Methods: Using the PRISMA guidelines, a query of the literature in PubMed, Google Scholar, and Web of Science databases was performed. Read More

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January 2022

The Change of Oxidative Stress in Maternal Blood During Pregnancy.

Reprod Sci 2022 Jan 13. Epub 2022 Jan 13.

Department of Obstetrics and Gynecology, Faculty of Medicine, Yamagata University, Iida-nishi, 2-2-2, Yamagata, 990-9585, Japan.

Oxidative stress (OS) is a state in which the oxidative capacity exceeds the antioxidant capacity in vivo. OS is associated with various perinatal diseases. There have been few reports about OS during pregnancy, such as OS changes that occur during gestation, normal maternal OS dynamics, and OS levels in umbilical cord blood. Read More

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January 2022

A Multi-Systems Approach to Human Movement after ACL Reconstruction: The Integumentary System.

Int J Sports Phys Ther 2022 1;17(1):74-80. Epub 2021 Dec 1.

Doctor of Physical Therapy Program, Tufts University School of Medicine.

Postoperative management of anterior cruciate ligament (ACL) reconstruction has traditionally focused on the evaluation and intervention of musculoskeletal components such as range of motion and patients' reports of function. The integumentary system can provide early indications that rehabilitation may be prolonged due to protracted or poor healing of the incision sites. Full evaluation of the reconstruction over time, including direction of the incisions, appearance of surgical sites, level of residual innervation, and health of the individual should be considered when determining time-based goals and plans for returning an athlete to activity. Read More

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December 2021

Mapping the cord blood transcriptome of pregnancies affected by early maternal anemia to identify signatures of fetal programming.

J Clin Endocrinol Metab 2022 Jan 11. Epub 2022 Jan 11.

Lund University Diabetes Centre, Malmö, Sweden.

Objective: Anemia during early pregnancy (EP) is common in developing countries and is associated with adverse health consequences for both mother and children. Offspring of women with EP anemia often have low birth-weight, the latter being a risk factor for cardiometabolic diseases including type 2 diabetes (T2D) later in life. Mechanisms underlying developmental programming of adult cardiometabolic disease include epigenetic and transcriptional alterations potentially detectable in umbilical cord blood (UCB) at time of birth. Read More

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January 2022

The impact of surgical timing on motor level lowering in motor complete traumatic spinal cord injury patients.

J Neurotrauma 2022 Jan 12. Epub 2022 Jan 12.

Amsterdam UMC Locatie VUmc, 1209, Neurosurgery, Amsterdam, Noord-Holland, Netherlands;

Patients with motor complete traumatic spinal cord injury (tSCI) have a low potential to recover ambulation. Motor level recovery, adjacent to the level of injury, could influence functional independency. This study addresses whether surgical timing influences motor level recovery in patients with sensorimotor complete (AIS A) and motor complete sensory incomplete (AIS B) tSCI. Read More

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January 2022

Comparison of Single and Repeated Dosing of Anti-Inflammatory Human Umbilical Cord Mesenchymal Stromal Cells in a Mouse Model of Polymicrobial Sepsis.

Stem Cell Rev Rep 2022 Jan 10. Epub 2022 Jan 10.

Regenerative Medicine Institute at CÚRAM Centre for Research in Medical Devices, School of Medicine, National University of Ireland Galway, Galway, Ireland.

Mesenchymal stromal cells (MSCs) ameliorate pre-clinical sepsis and sepsis-associated acute kidney injury (SA-AKI) but clinical trials of single-dose MSCs have not indicated robust efficacy. This study investigated immunomodulatory effects of a novel MSC product (CD362-selected human umbilical cord-derived MSCs [hUC-MSCs]) in mouse endotoxemia and polymicrobial sepsis models. Initially, mice received intra-peritoneal (i. Read More

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January 2022

Associations of 25 Hydroxyvitamin D and High Sensitivity C-reactive Protein Levels in Early Life.

Nutrients 2021 Dec 21;14(1). Epub 2021 Dec 21.

COPSAC, Copenhagen Prospective Studies on Asthma in Childhood, Herlev and Gentofte Hospital, University of Copenhagen, 2820 Copenhagen, Denmark.

Vitamin D deficiency and elevated high sensitivity C-reactive protein (hs-CRP) have been associated with several health outcomes, but knowledge on early life trajectories and association between 25 hydroxyvitamin D (25(OH)D) and hs-CRP is lacking. We investigated the association between longitudinal measurements of 25(OH)D and hs-CRP, respectively, from pregnancy to childhood and throughout childhood in two Danish mother-child cohorts-the COPSAC and COPSAC. In COPSAC, there was an association between 25(OH)D concentrations at week 24 in pregnancy and at age 6 months in childhood ( 633): estimate (95% CI); 0. Read More

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December 2021

The Study of Cerebrospinal Fluid microRNAs in Spinal Cord Injury and Neurodegenerative Diseases: Methodological Problems and Possible Solutions.

Int J Mol Sci 2021 Dec 22;23(1). Epub 2021 Dec 22.

Department of Histology, Cytology, and Embryology, Kazan State Medical University, 420012 Kazan, Russia.

Despite extensive research on neurological disorders, unanswered questions remain regarding the molecular mechanisms underpinning the course of these diseases, and the search continues for effective biomarkers for early diagnosis, prognosis, or therapeutic intervention. These questions are especially acute in the study of spinal cord injury (SCI) and neurodegenerative diseases. It is believed that the changes in gene expression associated with processes triggered by neurological disorders are the result of post-transcriptional gene regulation. Read More

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December 2021

Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.

Brain Topogr 2022 Jan 10. Epub 2022 Jan 10.

Affiliated Eye Center, Renmin Hospital of Wuhan University, Wuhan University, Wuhan, 430060, China.

To study the associations between RDH12 gene mutations, fundus types, and clinical manifestations. In total, 46 patients with inherited eye diseases caused by RDH12 gene mutations were included in this study. High-throughput chip capture sequencing, Sanger sequencing, and gene panel detection were used to determine that RDH12 was the pathogenic gene. Read More

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January 2022

Early experience with the Bolton Relay Pro/Plus for physician-modified fenestrated TEVAR.

Int Angiol 2022 Jan 10. Epub 2022 Jan 10.

Department of Vascular and Endovascular Surgery, University Hospital Münster, Münster, Germany.

Background: Thoracic endovascular aortic repair (TEVAR) can be challenging in cases involving the aortic arch and the visceral segment. We report our initial experience with fenestrated TEVAR (f-TEVAR) for thoracic aortic disease involving aortic branches using physician-modified stent grafts (PMSGs).

Materials And Methods: Between February 2019 and November 2020 nine patients were treated with a PMSG. Read More

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January 2022

Potential benefit of olive leaf extract in cervical spondylotic myelopathy model.

Ann Med Surg (Lond) 2022 Jan 11;73:103040. Epub 2021 Nov 11.

Department of Neurosurgery, Medical Faculty Universitas Sumatera Utara, Medan, Indonesia.

Introduction: Cervical spondylosis is the most common cause of myelopathy in the cervical due to chronic compression of the spinal cord in patients aged 55 years or older. Recent studies suggest that olive extracts suppress inflammation and reduce stress oxidative injury. The purpose of this study was to determine the potential neuroprotective effects of olive leaf extract (OLE) in an experimental cervical spondylotic myelopathy model. Read More

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January 2022

Heat-Shock Proteins Can Potentiate the Therapeutic Ability of Cryopreserved Mesenchymal Stem Cells for the Treatment of Acute Spinal Cord Injury in Dogs.

Stem Cell Rev Rep 2022 Jan 10. Epub 2022 Jan 10.

Department of Veterinary Clinical Sciences, College of Veterinary Medicine and Research Institute for Veterinary Science, Seoul National University, Seoul, 08826, South Korea.

Background: Mesenchymal stem cells (MSCs) are applied in the treatment of spinal cord injury (SCI) because of their neural tissue restoring ability. In the clinical setting, intravenous injection of cryopreserved cells is essential for the immediate treatment of SCI, exhibiting the disadvantage of reduced cell properties.

Methods: In this study, we potentiated the characteristics of cryopreserved MSCs by heat-shock (HS) treatment to induce the expression of HS protein (HSP) HSP70/HSP27 and further improved antioxidant capacity by overexpressing HSP32 (heme oxygenase-1 [HO-1]). Read More

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January 2022

N-Acetylcysteine alleviates spinal cord injury in rats after early decompression surgery by regulating inflammation and apoptosis.

Neurol Res 2022 Jan 9:1-9. Epub 2022 Jan 9.

Department of Orthopedics, Jincheng General Hospital, Jincheng, China.

Objective: Decompression surgery in patients with spinal cord injury (SCI) has a neuroprotective effect by alleviating secondary injury and improving neurological outcomes. N-Acetylcysteine (NAC), a drug approved by the United States Food and Drug Administration, has been shown to play neuroprotective roles via attenuation of apoptosis and inflammation. The purpose of the present study was to investigate the effects of early or late decompression surgery in combination with NAC administration on acute SCI, as well as investigate the underlying mechanisms of its actions. Read More

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January 2022

Clinical utility of expanded NIPT for chromosomal abnormalities and etiology analysis of cytogenetic discrepancies cases.

J Assist Reprod Genet 2022 Jan 9. Epub 2022 Jan 9.

Department of Obstetrics and Gynecology, The First Affiliated Hospital of University of Science and Technology of China, Hefei, China.

Purpose: This study is to assess the performance of expanded noninvasive prenatal testing (NIPT) in detecting chromosome aneuploidies and chromosome copy number variants (CNVs), and elucidate the discordant cases between NIPT and fetal karyotype.

Methods: A total of 2139 single pregnancies have been recruited and sequenced with expanded NIPT. Karyotype analysis and CNV sequencing (CNV-seq) of amniotic fluid were performed in 22 of 23 high-risk, three low-risk NIPT pregnant women with abnormal ultrasound findings in the follow-up, and three non-reportable NIPT pregnant women. Read More

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January 2022

Visuomotor integration in early Alzheimer's disease: A TMS study.

J Neurol Sci 2022 Jan 3;434:120129. Epub 2022 Jan 3.

Department of Neurorehabilitation, Hospital of Vipiteno (SABES-ASDAA), Vipiteno-Sterzing, Italy.

Background And Purpose: Cortical visuomotor integration is altered in Alzheimer's disease (AD), even at an early stage of the disease. The aim of this study was to assess the connections between the primary visual (V1) and motor (M1) areas in patients with early AD using a paired-pulse, twin-coil transcranial magnetic stimulation (TMS) technique.

Methods: Visuomotor connections (VMCs) were assessed in 13 subjects with probable AD and 16 healthy control subjects. Read More

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January 2022

Risk and predictive factors for candidemia after allogeneic hematopoietic cell transplantation: JSTCT Transplant Complications Working Group.

Transplant Cell Ther 2022 Jan 4. Epub 2022 Jan 4.

Division of Hematology, Jichi Medical University Saitama Medical Center, Saitama, Japan; Transplant Complications Working Group of the Japan Society for Transplantation and Cellular Therapy (JSTCT).

Background: Although antifungal prophylaxis that covers Candida species is a standard of care in allogeneic hematopoietic cell transplantation (HCT), candidemia mainly caused by non-albicans Candida species still occurs and is associated with a high mortality rate.

Objective: This study aimed to evaluate the risk factors for candidemia after allogeneic HCT. Particularly, we evaluated the impact of patient factors such as hematopoietic cell transplantation-specific comorbidity index (HCT-CI) and performance status (PS) in addition to well-recognized risk factors including donor type, delayed engraftment and graft-versus-host disease (GVHD). Read More

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January 2022

Ethamsylate Attenuates Mutilated Secondary Pathogenesis and Exhibits a Neuroprotective Role in Experimental Model of Spinal Cord Injury.

Neuroscience 2022 Jan 4. Epub 2022 Jan 4.

Department of Pharmacology and Toxicology, National Institute of Pharmaceutical Education and Research (NIPER)-Ahmedabad, Gandhinagar, Gujarat, India. Electronic address:

Deficits in the neuronal connection that succumbs to the impairment of sensory and motor neurons are the hallmarks of spinal cord injury (SCI). Secondary pathogenesis, which initiates after the primary mechanical insult to the spinal cord, depicts a pivotal role in producing inflammation, lesion formation and ultimately causes fibrotic scar formation in the chronic period. This fibrotic scar formed acts as a major hindrance in facilitating axonal regeneration and is one of the root causes of motor impairment. Read More

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January 2022

The early history of the knee-jerk reflex in neurology.

Authors:
J Wayne Lazar

J Hist Neurosci 2022 Jan 7:1-16. Epub 2022 Jan 7.

International Society for the History of the Neurosciences, Garden City South, New York, USA.

Medical interest in the knee-jerk reflex began in about 1875 with simultaneous and independent publications by Wilhelm Heinrich Erb (1840-1921) and Carl Friedrich Otto Westphal (1833-1890) contending that the knee jerk was absent (and the ankle clonus was present) in all clear cases of locomotor ataxia (tabes dorsalis). Physicians in the medical communities of Europe, Great Britain, and North America responded with case and large group studies that tested this contention. These studies revealed the usefulness of the knee jerk and other myotatic reflexes, but also unexpected characteristics. Read More

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January 2022

Spinal cord detethering without laminectomy or laminotomy.

Surg Neurol Int 2021 14;12:610. Epub 2021 Dec 14.

Department of Neurosurgery, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, New York, United States.

Background: Tethered cord syndrome occurs when there is abnormal tension on the distal spinal cord, which limits its elevation as patients grow. This results in stretching of the neural elements and microvasculature, resulting in both direct and ischemic injury.[7] Animal studies suggest that impairment of oxidative metabolic pathways may contribute to neuronal injury. Read More

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December 2021

Holocord spontaneous pneumorrhachis in the setting of refractory emesis.

Surg Neurol Int 2021 8;12:602. Epub 2021 Dec 8.

Department of Neurosurgery, Desert Regional Medical Center, Palm Springs, California, United States.

Background: Pneumorrhachis (PNR) is the presence of air within the spinal canal and may be either intramedullary or extramedullary in location. The etiology is most commonly iatrogenic or traumatic in nature. Treatment is dependent on underlying cause and physical exam. Read More

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December 2021

A metabolome-wide association study of in utero metal and trace element exposures with cord blood metabolome profile: Findings from the Boston Birth Cohort.

Environ Int 2022 Jan 19;158:106976. Epub 2021 Nov 19.

Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA; Welch Center for Prevention, Epidemiology, and Clinical Research, Johns Hopkins University, Baltimore, MD, USA. Electronic address:

Background: Exposure to metals lead (Pb), mercury (Hg), and cadmium (Cd) and trace elements selenium (Se) and manganese (Mn) has been linked to the developmental origins of cardiometabolic diseases, but the mechanisms are not well-understood.

Objective: Conduct a metabolome-wide association study to understand how in utero exposure to Pb, Hg, Cd, Se, and Mn affects the metabolic programming of fetuses.

Methods: We used data from the Boston Birth Cohort, which enrolled mother-child pairs from Boston, MA. Read More

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January 2022

Pediatric spinal cord diffuse midline glioma, H3 K27-altered with intracranial and spinal leptomeningeal spread: A case report.

Neuroradiol J 2022 Jan 6:19714009211067402. Epub 2022 Jan 6.

Edward B. Singleton Department of Radiology, 3984Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA.

Primary spinal cord high-grade gliomas, including those histologically identified as glioblastoma (GBM), are a rare entity in the pediatric population but should be considered in the differential diagnosis of intramedullary lesions. Pediatric spinal cord high-grade gliomas have an aggressive course with poor prognosis. The aim of this case report is to present a 15-year-old female adolescent with histopathologically confirmed spinal cord GBM with K27 M mutation consistent with a diffuse midline glioma (DMG), H3 K27-altered, CNS WHO grade 4 with leptomeningeal seeding on initial presentation. Read More

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January 2022

A Single Administration of Riluzole Applied Acutely After Spinal Cord Injury Attenuates Pro-inflammatory Activity and Improves Long-Term Functional Recovery in Rats.

J Mol Neurosci 2022 Jan 6. Epub 2022 Jan 6.

Department of Orthopedics, Beijing Chaoyang Hospital, Capital Medical University, Beijing, 100043, China.

After spinal cord injury (SCI), emergency treatment intervention can minimize tissue damage, which is closely related to the recovery of long-term function. Here, we examined whether the administration of a single dose of riluzole (6 mg/kg) immediately after SCI was a critical window for the drug to exert its regulatory effect and limit long-term neurological deficits. The animals were sacrificed 1 day after administration for investigation of neuronal survival and a potential neuroinflammatory response, and sacrificed in the 6th week for assessment of neurological function. Read More

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January 2022

Neurogenic pulmonary edema in subarachnoid hemorrhage: relevant clinical concepts.

Egypt J Neurosurg 2021 15;36(1):27. Epub 2021 Nov 15.

Medical and Surgical Research Center, School of Medicine, University of Cartagena, Cartagena, Colombia.

Background: Subarachnoid hemorrhage (SAH) continues to be a condition that carries high rates of morbidity, mortality, and disability around the world. One of its complications is neurogenic pulmonary edema (NPE), which is mainly caused by sympathetic hyperactivity. Due to the complexity of the pathophysiological process and the unspecificity of the clinical presentation, it is little known by general practitioners, medical students and other health care workers not directly related to the neurological part, making the management of this chaotic condition difficult. Read More

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November 2021