2,082 results match your criteria Gardner Syndrome

Plasma P-tau181 and P-tau217 in Patients With Traumatic Encephalopathy Syndrome With and Without Evidence of Alzheimer Disease Pathology.

Neurology 2022 May 16. Epub 2022 May 16.

University of California, San Francisco, Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, San Francisco, CA.

Background: Traumatic encephalopathy syndrome (TES) has overlapping clinical symptoms with Alzheimer's disease (AD). AD pathology commonly co-occurs with chronic traumatic encephalopathy (CTE) pathology. There are currently no validated CTE biomarkers. Read More

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Multimodal Biomarkers of Repetitive Head Impacts and Traumatic Encephalopathy Syndrome: A Clinico-Pathological Case Series.

J Neurotrauma 2022 Apr 28. Epub 2022 Apr 28.

University of California San Francisco, Neurology, San Francisco, California, United States;

Traumatic encephalopathy syndrome (TES) criteria were developed to aid diagnosis of chronic traumatic encephalopathy (CTE) pathology during life. Interpreting clinical and biomarker findings in patients with TES during life requires autopsy-based determination of the neuropathological profile. We report a clinico-pathological series of 9 patients with prior repetitive head impacts (RHI) classified retrospectively using the TES research framework (100% male and white/Caucasian, age at death 49-84) who completed antemortem neuropsychological evaluations, T1-weighted MRI, diffusion tensor imaging (N=6), (18)F-fluorodeoxyglucose-PET (N=5), and plasma measurement of neurofilament light (NfL), glial fibrillary acidic protein (GFAP), and total tau (N=8). Read More

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Food as medicine? Exploring the impact of providing healthy foods on adherence and clinical and economic outcomes.

Explor Res Clin Soc Pharm 2022 Mar 18;5:100129. Epub 2022 Mar 18.

The Marzam Group, USA.

Background: Chronic disease prevalence is increasing. Adherence to dietary guidelines is low (<50%) despite positive impacts in disease progression, clinical outcomes, and medical costs. It is important to summarize the impact of providing medically-tailored meals to patients on adherence rates, clinical outcomes, and potential economic outcomes. Read More

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A standardized definition of neonatal opioid withdrawal syndrome.

J Pediatr 2022 Apr 18. Epub 2022 Apr 18.

Children and Family Futures, Lake Forest, California.

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A Scoping Review: Mapping the Evidence for Undergraduate Concussion Education and Proposing the Content for Medical Student Concussion Teaching.

Int J Environ Res Public Health 2022 04 4;19(7). Epub 2022 Apr 4.

Centre for Public Health, Queen's University Belfast, Belfast BT12 6BA, UK.

Introduction: Concussion is a common yet complex condition, with each new case requiring assessment by a medical doctor. Recent research has shown that doctors working in the UK have significant knowledge deficits regarding concussion diagnosis and management.

Aim: The aim of this scoping review was to map out the evidence about how undergraduate medical students are being educated about concussion. Read More

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Neurogenic Thoracic Outlet Syndrome in the Overhead and Throwing Athlete: A Narrative Review.

PM R 2022 Apr 10. Epub 2022 Apr 10.

Emory University School of Medicine, Atlanta, Georgia, USA.

Thoracic outlet syndrome is an important cause of shoulder pain and dysfunction due to compression of neurovascular structures as they traverse the thoracic outlet. Symptoms are most commonly due to compression of the brachial plexus called neurogenic thoracic outlet syndrome (nTOS). Throwing athletes are at increased risk of nTOS due to a variety of biomechanical factors. Read More

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Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing.

Front Neurol 2022 23;13:821189. Epub 2022 Mar 23.

James J. and Joan A. Gardner Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH, United States.

Long-read sequencing (LRS) technologies have been recently introduced to overcome intrinsic limitations of widely-used next-generation sequencing (NGS) technologies, namely the sequencing limited to short-read fragments (150-300 base pairs). Since its introduction, LRS has permitted many successes in unraveling hidden mutational mechanisms. One area in clinical neurology in need of rethinking as it applies to genetic mechanisms is essential tremor (ET). Read More

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Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.

Head Neck Pathol 2022 Mar 21;16(1):143-157. Epub 2022 Mar 21.

MD Anderson Cancer Center, Houston, TX, USA.

The initiative of the 5th edition of the WHO classification of the Head and Neck Tumours establishing a new section dedicated to familial/heritable tumor syndromes with tumors and lesions in the head and neck region was much needed to better understand the tumours, diseases, and associated syndromes, as well as establish recommendations for monitoring and treating these patients. (WHO Classification of Tumours Editorial Board. Head and Neck tumours. Read More

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Relationship Between Serum Brain-Type Natriuretic Peptide and Biomarkers of Growth in Infants With Shunt-Dependent Single Cardiac Ventricle.

Am J Cardiol 2022 May 11;171:146-150. Epub 2022 Mar 11.

Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

For infants with shunt-dependent or ductal-dependent single ventricle heart disease, poor growth is common and associated with morbidity and impaired neurodevelopmental outcomes. Although attention has focused on nutrition to promote weight gain, little is known about the relation between heart failure and growth factors. A prospective observational pilot study was performed to assess the relation between heart failure, assessed by brain natriuretic peptide (BNP), and growth factors (insulin-like growth factor 1 [IGF-1] and insulin-like growth factor-binding protein 3) at 3 visits: (1) before discharge from neonatal intervention with the establishment of stable pulmonary blood flow, (2) immediately before superior cavopulmonary connection, and (3) before discharge after superior cavopulmonary connection operation. Read More

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Mass COVID-19 patient screening using UvsX and UvsY mediated DNA recombination and high throughput parallel sequencing.

Sci Rep 2022 03 8;12(1):4082. Epub 2022 Mar 8.

Department of Cancer Biology and Genetics, College of Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, OH, 43210, USA.

The Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2), also known as 2019 novel coronavirus (2019-nCoV), is a highly infectious RNA virus. A percentage of patients develop coronavirus disease 2019 (COVID-19) after infection, whose symptoms include fever, cough, shortness of breath and fatigue. Acute and life-threatening respiratory symptoms are experienced by 10-20% of symptomatic patients, particularly those with underlying medical conditions. Read More

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Characterization of immune responses in fully vaccinated individuals after breakthrough infection with the SARS-CoV-2 delta variant.

Sci Transl Med 2022 Apr 20;14(641):eabn6150. Epub 2022 Apr 20.

Center for Virology and Vaccine Research, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.

Breakthrough infections with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants have been reported frequently in vaccinated individuals with waning immunity. In particular, a cluster of over 1000 infections with the SARS-CoV-2 delta variant was identified in a predominantly fully vaccinated population in Provincetown, Massachusetts in July 2021. In this study, vaccinated individuals who tested positive for SARS-CoV-2 ( = 16) demonstrated substantially higher serum antibody responses than vaccinated individuals who tested negative for SARS-CoV-2 ( = 23), including 32-fold higher binding antibody titers and 31-fold higher neutralizing antibody titers against the SARS-CoV-2 delta variant. Read More

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Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.

Int J Clin Oncol 2022 May 21;27(5):992-1000. Epub 2022 Feb 21.

La Paz Hospital Institute for Health Research (IdiPAZ), Madrid, Spain.

Introduction: Approximately 10% of pediatric patients with cancer have an inherited, sometimes masked, cancer predisposition syndrome (CPS). Identifying patients with genetic susceptibility to malignant disease is essential for their correct diagnosis and clinical management.

Materials And Methods: Here, we present the workflow and experience of a multidisciplinary cancer predisposition unit focused on pediatric patients with cancer. Read More

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Oral Nirmatrelvir for High-Risk, Nonhospitalized Adults with Covid-19.

N Engl J Med 2022 04 16;386(15):1397-1408. Epub 2022 Feb 16.

From Global Product Development, Pfizer, Collegeville, PA (J.H., H.L.-T.); Global Product Development (A.G.) and Early Clinical Development (M.L.B.), Pfizer, Cambridge, MA; Global Product Development, Pfizer, New York (P.A., W.B., B.D., R.P.); Global Product Development, Pfizer, Lake Forest, IL (W.W.); Medical and Safety, Pfizer, Sandwich, United Kingdom (V.M.H.); Köhler and Milstein Research, Mérida, Yucatan, Mexico (A.S.-C.); and Global Product Development, Pfizer, Tampa, FL (J.M.R.).

Background: Nirmatrelvir is an orally administered severe acute respiratory syndrome coronavirus 2 main protease (M) inhibitor with potent pan-human-coronavirus activity in vitro.

Methods: We conducted a phase 2-3 double-blind, randomized, controlled trial in which symptomatic, unvaccinated, nonhospitalized adults at high risk for progression to severe coronavirus disease 2019 (Covid-19) were assigned in a 1:1 ratio to receive either 300 mg of nirmatrelvir plus 100 mg of ritonavir (a pharmacokinetic enhancer) or placebo every 12 hours for 5 days. Covid-19-related hospitalization or death from any cause through day 28, viral load, and safety were evaluated. Read More

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Adaptive immunity and neutralizing antibodies against SARS-CoV-2 variants of concern following vaccination in patients with cancer: the CAPTURE study.

Nat Cancer 2021 12 27;2(12):1305-1320. Epub 2021 Oct 27.

Cancer Dynamics Laboratory, the Francis Crick Institute, London, UK.

Coronavirus disease 2019 (COVID-19) antiviral response in a pan-tumor immune monitoring (CAPTURE) ( NCT03226886 ) is a prospective cohort study of COVID-19 immunity in patients with cancer. Here we evaluated 585 patients following administration of two doses of BNT162b2 or AZD1222 vaccines, administered 12 weeks apart. Seroconversion rates after two doses were 85% and 59% in patients with solid and hematological malignancies, respectively. Read More

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December 2021

Pathophysiology of intraabdominal hypertension and abdominal compartment syndrome and relevance to veterinary critical care.

J Vet Emerg Crit Care (San Antonio) 2022 Jan;32(S1):48-56

Department of Veterinary Clinical Sciences, The Ohio State University, Columbus, Ohio, USA.

Background: Increased intraabdominal pressure, termed intraabdominal hypertension (IAH), is reported as an independent cause of morbidity and mortality in the human ICU but, until recently, has been rarely described in veterinary species outside of experimental models. Failure to identify severe IAH leads to organ dysfunction, termed abdominal compartment syndrome, and rapidly becomes fatal without therapeutic intervention. Although the veterinary community has been slow to address the concept of IAH and associated comorbidities, recent companion and large animal case series and experimental studies suggest IAH may also be common in veterinary species and correlates well with risk factors and grading systems already described in the human literature. Read More

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January 2022

Where's the Beef? Understanding Allergic Responses to Red Meat in Alpha-Gal Syndrome.

J Immunol 2022 01;208(2):267-277

Department of Medicine, Thurston Arthritis Research Center, Division of Rheumatology, Allergy, and Immunology, University of North Carolina School of Medicine, Chapel Hill, NC; and Department of Pediatrics, University of North Carolina Food Allergy Initiative, Division of Allergy and Immunology, University of North Carolina School of Medicine, Chapel Hill, NC

Alpha-gal syndrome (AGS) describes a collection of symptoms associated with IgE-mediated hypersensitivity responses to the glycan galactose-alpha-1,3-galactose (alpha-gal). Individuals with AGS develop delayed hypersensitivity reactions, with symptoms occurring >2 h after consuming mammalian ("red") meat and other mammal-derived food products. The mechanisms of pathogenesis driving this paradigm-breaking food allergy are not fully understood. Read More

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January 2022

HIV Reservoirs: Modeling, Quantification, and Approaches to a Cure.

Methods Mol Biol 2022 ;2407:215-228

Division of Infectious Diseases, Emory University School of Medicine, Atlanta, GA, USA.

Biomedical research in animal models depends heavily on nonhuman primates (NHP) (Phillips et al., Am J Primatol 76(9):801-827, 2014). In their physiology, neurobiology, and, most importantly, their susceptibility to infectious diseases and subsequent immune responses, NHPs have many parallels with humans (Rhesus Macaque Genome Sequencing and Analysis Consortium et al. Read More

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Quality of life in upper airway resistance syndrome.

J Clin Sleep Med 2022 May;18(5):1263-1270

Department of Neurology, Emory University, Atlanta, Georgia.

Study Objectives: To evaluate the health-related quality of life (HRQoL) in patients with upper airway respiratory syndrome (UARS) and obstructive sleep apnea (OSA) compared to the general population (GP) in Lima, Peru, and to explore the variables associated with differences in HRQoL in patients with UARS.

Methods: This was a retrospective study of medical and polysomnography records from 2009-2014 in a referral sleep medicine center for patients aged 18-64 years. UARS was defined by polysomnography as follows: apnea-hypopnea index < 5 events/h, oxygen saturation ≥ 92%, respiratory effort-related arousal index ≥ 5. Read More

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The Five-Factor Model for the Diagnosis of Parental Alienation.

J Am Acad Child Adolesc Psychiatry 2022 May 17;61(5):591-594. Epub 2021 Dec 17.

University of California San Francisco.

Although the phenomenon that we know as parental alienation (PA) had been described in the mental health and legal literature for many years, it was given its name-parental alienation syndrome-by Richard Gardner in 1985. As time went on, most writers abandoned the use of the word syndrome and simply referred to this mental condition as parental alienation. The definition of PA is a mental state in which a child-usually one whose parents are engaged in a high-conflict separation or divorce-allies strongly with one parent (the favored parent) and rejects a relationship with the other parent (the alienated parent) without a good reason. Read More

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Biomarkers associated with mortality in pediatric patients with cardiac arrest and acute respiratory distress syndrome.

Resuscitation 2022 01 3;170:184-193. Epub 2021 Dec 3.

Division of Critical Care Medicine, Department of Anesthesiology & Critical Care Medicine, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Leonard Davis Institute, University of Pennsylvania, Philadelphia, PA, USA.

Aims: To identify plasma biomarkers associated with cardiac arrest in a cohort of children with acute respiratory distress syndrome (ARDS), and to assess the association of these biomarkers with mortality in children with cardiac arrest and ARDS (ARDS + CA).

Methods: This was a secondary analysis of a single-center prospective cohort study of children with ARDS from 2014-2019 with 17 biomarkers measured. Clinical characteristics and biomarkers were compared between subjects with ARDS + CA and ARDS with univariate analysis. Read More

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January 2022

Death following pulmonary complications of surgery before and during the SARS-CoV-2 pandemic.


Br J Surg 2021 Dec;108(12):1448-1464

Background: This study aimed to determine the impact of pulmonary complications on death after surgery both before and during the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic.

Methods: This was a patient-level, comparative analysis of two, international prospective cohort studies: one before the pandemic (January-October 2019) and the second during the SARS-CoV-2 pandemic (local emergence of COVID-19 up to 19 April 2020). Both included patients undergoing elective resection of an intra-abdominal cancer with curative intent across five surgical oncology disciplines. Read More

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December 2021

Percutaneous ultrasound-guided radiofrequency ablation for giant desmoid tumors of the intra-abdominal cavity in a patient with Gardner syndrome.

J Cancer Res Ther 2021 Nov;17(5):1286-1288

Department of Ultrasonography, The Second Affiliated Hospital of Zhejiang University School of Medicine, Zhejiang, China.

Gardner syndrome (GS) is a rare variant of familial adenomatous polyposis, leading to numerous intra- and extracolonic lesions. Extracolonic lesions of GS are most common with desmoid tumors (DTs) in the abdominal wall, intra-abdominal cavity, and mesentery. Surgery remains the primary treatment for DTs; however, the patients are challenged with the high recurrence rate after surgical resection, and wide resection often results in debilitating loss of function. Read More

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November 2021

Gardner-Diamond syndrome complicated with chronic urticaria successfully treated with antihistamine.

J Dermatol 2022 Feb 18;49(2):e75-e76. Epub 2021 Nov 18.

Department of Laboratory medicine, Tokyo Medical University, Tokyo, Japan.

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February 2022

A Severe form of Gardner-Diamond Syndrome in a Patient with Schizophrenia: A Rare Comorbidity with an Exceptional Pathophysiology.

Psychiatr Danub Fall 2021;33(3):368-370

Department of Psychiatry, Bakirkoy Prof Mazhar Osman Training. and Research Hospital for Psychiatry, Neurology, and Neurosurgery, 34147, Istanbul, Turkey,

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February 2022

Recurrent CTNNB1 mutations in craniofacial osteomas.

Mod Pathol 2022 Apr 1;35(4):489-494. Epub 2021 Nov 1.

Division of Translational Pathology, Gerhard-Domagk-Institute of Pathology, University Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.

Osteoma is a benign bone forming tumor predominantly arising on the surface of craniofacial bones. While the vast majority of osteomas develops sporadically, a small subset of cases is associated with Gardner syndrome, a phenotypic variant of familial adenomatous polyposis caused by mutations in the APC gene resulting in aberrant activation of WNT/β-catenin signaling. In a sequencing analysis on a cohort of sporadic, non-syndromal osteomas, we identified hotspot mutations in the CTNNB1 gene (encoding β-catenin) in 22 of 36 cases (61. Read More

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Protective Efficacy of Gastrointestinal SARS-CoV-2 Delivery against Intranasal and Intratracheal SARS-CoV-2 Challenge in Rhesus Macaques.

J Virol 2022 01 27;96(2):e0159921. Epub 2021 Oct 27.

Center for Infectious Disease Research, Walter Reed Army Institute for Research, Silver Spring, Maryland, USA.

Live oral vaccines have been explored for their protective efficacy against respiratory viruses, particularly for adenovirus serotypes 4 and 7. The potential of a live oral vaccine against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), however, remains unclear. In this study, we assessed the immunogenicity of live SARS-CoV-2 delivered to the gastrointestinal tract in rhesus macaques and its protective efficacy against intranasal and intratracheal SARS-CoV-2 challenge. Read More

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January 2022

Personality, spatiotemporal ecological variation and resident/explorer movement syndromes in the sleepy lizard.

J Anim Ecol 2022 01 9;91(1):210-223. Epub 2021 Nov 9.

Department of Environmental Science and Policy, University of California, Davis, CA, USA.

Individual variation in movement is profoundly important for fitness and offers key insights into the spatial and temporal dynamics of populations and communities. Nonetheless, individual variation in fine-scale movement behaviours is rarely examined even though animal tracking devices offer the long-term, high-resolution, repeatable data in natural conditions that are ideal for studying this variation. Furthermore, of the few studies that consider individual variation in movement, even fewer also consider the internal traits and environmental factors that drive movement behaviour which are necessary for contextualising individual differences in movement patterns. Read More

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January 2022

Parkinsonism in viral, paraneoplastic, and autoimmune diseases.

J Neurol Sci 2022 02 1;433:120014. Epub 2021 Oct 1.

Truong Neuroscience Institute, Orange Coast Memorial Medical Center, Fountain Valley, CA, USA; Department of Neurosciences, UC Riverside, Riverside, CA, USA. Electronic address:

Secondary parkinsonism, namely parkinsonism due to causes other than idiopathic neurodegeneration, may have multiple etiologies. Common secondary etiologies of parkinsonism such as drug-induced or vascular etiologies are well documented. Other secondary causes of parkinsonism such as infectious (mainly viral and prion-like diseases), autoimmune (systemic/drug-induced) and paraneoplastic etiologies are rare but are a topic of increasing interest. Read More

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February 2022

Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19.

Immunity 2021 11 4;54(11):2650-2669.e14. Epub 2021 Sep 4.

Institute of Innate Immunity, Medical Faculty, University of Bonn, Bonn, Germany.

Longitudinal analyses of the innate immune system, including the earliest time points, are essential to understand the immunopathogenesis and clinical course of coronavirus disease (COVID-19). Here, we performed a detailed characterization of natural killer (NK) cells in 205 patients (403 samples; days 2 to 41 after symptom onset) from four independent cohorts using single-cell transcriptomics and proteomics together with functional studies. We found elevated interferon (IFN)-α plasma levels in early severe COVD-19 alongside increased NK cell expression of IFN-stimulated genes (ISGs) and genes involved in IFN-α signaling, while upregulation of tumor necrosis factor (TNF)-induced genes was observed in moderate diseases. Read More

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November 2021

Novel Mutation in Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome.

Diagnostics (Basel) 2021 Aug 28;11(9). Epub 2021 Aug 28.

Medicine of Mother and Child Department, "Grigore T. Popa" University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania.

Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in the gene. The early diagnosis and identification of high-risk individuals are important because patients have a 100% risk of colon cancer. We present the case of a family with Gardner syndrome. Read More

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