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[Update on diagnosis and therapy in frequent vestibular and balance disorders].

Fortschr Neurol Psychiatr 2021 Apr 19. Epub 2021 Apr 19.

LMU Klinikum, Neurologische Klinik und Deutsches Schwindel- und Gleichgewichtszentrum (DSGZ).

The 8 most frequent vestibular disorders account for more than 70% of all presentations of vertigo, dizziness, and imbalance. In acute (and mostly non-repetitive) vestibular disorders acute unilateral vestibulopathy and vestibular stroke are most important, in episodic vestibulopathies benign paroxysmal positional vertigo (BPPV), Menière's disease and vestibular migraine, and in chronic vestibular disorders bilateral vestibulopathy/presbyvestibulopathy, functional dizziness and cerebellar dizziness. In the last decade, internationally consented diagnostic criteria and nomenclature were established for the most frequent vestibular disorders, which can be easily applied in clinical practice. Read More

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Olfactory dysfunction in SARS-CoV-2 infection: Focus on odorant specificity and chronic persistence.

Am J Otolaryngol 2021 Apr 13;42(5):103014. Epub 2021 Apr 13.

Department of Physics and Chemistry of Materials, Faculty of Medicine/Dental Medicine, Danube Private University, Krems, Austria; Institute of Chemical Technology of Inorganic Materials, Johannes Kepler University Linz, Linz, Austria.

Background: Smell dysfunction has been recognized as an early symptom of SARS-CoV-2 infection, often occurring before the onset of core symptoms of the respiratory tract, fever or muscle pain. In most cases, olfactory dysfunction is accompanied by reduced sense of taste, is partial (microsmia) and seems to normalize after several weeks, however, especially in cases of virus-induced complete smell loss (anosmia), there are indications of persisting deficits even 2 months after recovery from the acute disease, pointing towards the possibility of chronic or even permanent smell reduction for a significant part of the patient population. To date, we have no knowledge on the specificity of anosmia towards specific odorants or chemicals and about the longer-term timeline of its persistence or reversal. Read More

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Epidemiologic Characteristics of a COVID-19 Outbreak Caused by Religious Activities in Daegu, Korea.

Epidemiol Health 2021 Apr 14:e2021024. Epub 2021 Apr 14.

Department of Internal Medicine, School of Medicine, Kyungpook National University, Daegu, Republic of Korea.

Objectives: A coronavirus disease (COVID-19) outbreak triggered by religious activities occurred in Daegu, South Korea in February 2020. This outbreak spread rapidly to the community through high-risk groups. This study describes the characteristics of the COVID-19 cases based on S religious group membership and summarizes Daegu City's processes and responses to control the outbreak. Read More

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Pregnancy Associated Granulomatous Mastitis: Clinical Characteristics, Management, and Outcome.

Breastfeed Med 2021 Apr 19. Epub 2021 Apr 19.

Department of Breast, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

We have already known that idiopathic granulomatous mastitis (IGM) is a rare benign chronic inflammatory disorder that can clinically mimic breast carcinoma, especially affects parous women of childbearing age, but there is little literature to report about pregnancy associated granulomatous mastitis (PAGM). The aim of our study is to report and describe the clinical signs, managements, clinical course, and clinical outcomes after treatment of PAGM in our hospital. We retrospectively analyzed 15 pregnant patients who were diagnosed as PAGM in our hospital collected from December 2018 to December 2020 by reviewing medical records and questionnaire survey, including the patients' characteristics, clinical presentations, microbiological workups, tissue pathology, treatment modalities, outcomes, and follow-up data. Read More

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Cognitive Performance of Patients With Multiple Sclerosis and Optic Neuritis at Presentation.

J Neuroophthalmol 2021 Apr 14. Epub 2021 Apr 14.

Goldschleger Eye Institute (AL, OS, AS, RH-B), Sheba Medical Center, Tel-Hashomer, Israel; Department of Behavioral Sciences and Psychology (RA), Ariel University, Ariel, Israel; Multiple Sclerosis Center (RA, AA), Sheba Medical Center, Tel Hashomer, Israel; and Sackler Faculty of Medicine (RA, AA, AL, OS, AS, RH-B), Tel Aviv University, Tel Aviv, Israel.

Background: Cognitive dysfunction is common among patients with multiple sclerosis (MS), but the effect of coexisting optic neuritis (ON) at the first presentation of multiple sclerosis on the course of cognitive decline is unknown. The purpose of this study was to assess whether ON at presentation has any effect on the progression of cognitive decline in MS.

Methods: Historical cohort study. Read More

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Development of type 2 diabetes in adolescent girls with polycystic ovary syndrome and obesity.

Pediatr Diabetes 2021 Apr 18. Epub 2021 Apr 18.

Department of Pediatrics, Division of Pediatric Endocrinology, University of Colorado Anschutz Medical Campus, Aurora, CO.

Adult women with polycystic ovary syndrome (PCOS) and obesity have an 8-fold increased risk of developing type 2 diabetes (T2D). Our goal was to determine the incidence and risk factors for T2D in adolescents with PCOS and obesity. Retrospective chart review of girls aged 11-21 years with confirmed PCOS (oligomenorrhea and hyperandrogenism) diagnosis between 7/2013-8/2018 and at least one follow-up visit and BMI >85%ile. Read More

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Evaluation of palliative treatments in unresectable pancreatic cancer.

ANZ J Surg 2021 Apr 18. Epub 2021 Apr 18.

Department of Upper Gastrointestinal/Hepatobiliary (HPB) Surgery, Western Health, Melbourne, Victoria, Australia.

Background: Pancreatic ductal adenocarcinoma (PDAC) presents as unresectable disease in 80% of patients. Limited Australian data exists regarding management and outcome of palliative management for PDAC. This study aims to: (i) identify patients with PDAC being managed with palliative intent; (ii) assess the type of palliative management being used. Read More

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Plasma Microbial Cell-free DNA Next Generation Sequencing in the Diagnosis and Management of Febrile Neutropenia.

Clin Infect Dis 2021 Apr 19. Epub 2021 Apr 19.

Division of Infectious Diseases and Geographic Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.

Background: Standard testing fails to identify a pathogen in most patients with febrile neutropenia (FN). We evaluated the ability of the Karius microbial cell-free DNA (mcfDNA) sequencing Test (KT) to identify infectious etiologies of FN and its impact on antimicrobial management.

Methods: This prospective study (ClinicalTrials. Read More

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Clinical analysis of 11 cases of nocardiosis.

Open Med (Wars) 2021 8;16(1):610-617. Epub 2021 Apr 8.

Department of Hematology, Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetic and Gene Regulation, Sun Yat-Sen University, Sun Yat-Sen Memorial Hospital, Guangzhou, Guangdong 510120, People's Republic of China.

Nocardiosis is a rare, life-threatening, opportunistic, and suppurative infection. Its clinical manifestation lacks specificity, which makes early diagnosis difficult. A retrospective analysis of the clinical records of 11 patients with nocardiosis admitted to our hospital from January 2013 to November 2018 was conducted. Read More

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Epidemiological and clinical characteristics of 65 hospitalized patients with COVID-19 in Liaoning, China.

World J Clin Cases 2021 Apr;9(10):2205-2217

Department of Pulmonary and Critical Care Medicine, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China.

Background: Coronavirus disease 2019 (COVID-19) has spread rapidly to multiple countries through its infectious agent severe acute respiratory syndrome coronavirus 2. The severity, atypical clinical presentation, and lack of specific anti-viral treatments have posed a challenge for the diagnosis and treatment of COVID-19. Understanding the epidemiological and clinical characteristics of COVID-19 cases in different geographical areas is essential to improve the prognosis of COVID-19 patients and slow the spread of the disease. Read More

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Prevalence and Recovery from Newly Onset Anosmia and Ageusia in Covid 19 Patients at our Teritary Care Centre.

Indian J Otolaryngol Head Neck Surg 2021 Apr 10:1-8. Epub 2021 Apr 10.

Department of ENT, Vilasrao Deshmukh Government Institute of Medical Sciences, Latur, Maharashtra India.

Anosmia (loss of smell) and Ageusia (loss of taste) are newly presenting independent symptoms in association with multiple symptoms such as Fever, Dry cough and Breathlessness in COVID 19 Patients.The Study of aims is to estimate Prevalence of Anosmia & Ageusia in Confirmed Covid 19 cases and to assess their Recovery rates. A Study conducted between June 2020 and September 2020 at a tertiary care COVID Dedicated hospital. Read More

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Acute transverse myelitis in West Nile Virus, a rare neurological presentation.

IDCases 2021 31;24:e01104. Epub 2021 Mar 31.

Department of Medicine, Mount Auburn Hospital, Cambridge, MA, USA.

Introduction: West Nile Virus varies in presentation from asymptomatic to a febrile illness often associated with malaise, weakness and maculopapular rash. West Nile neuro-invasive disease often manifests as meningitis, encephalitis, and less commonly acute flaccid paralysis in a "polio-like" presentation. Acute transverse myelitis (ATM) is a rare manifestation. Read More

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Pseudotumoral Lesion as a Manifestation of Autoimmune Pancreatitis.

Cureus 2021 Mar 16;13(3):e13931. Epub 2021 Mar 16.

Internal Medicine Department, Centro Hospitalar Barreiro Montijo, Barreiro, PRT.

Autoimmune pancreatitis is a chronic and benign disease of autoimmune etiology that can occur isolated or constitute a manifestation of immunoglobulin G4 (IgG4)-related disease (types 2 and 1, respectively). It is a pathological condition that can mimic pancreatic cancer by presenting as a mass in imaging studies and provoking symptoms such as obstructive jaundice and dramatic weight-loss. The inflammatory infiltrates in the pancreas can also produce endocrine dysfunction leading to diabetes. Read More

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Cardiac Amyloidosis Presenting as Biventricular Systolic Heart Failure.

Case Rep Cardiol 2021 1;2021:6671469. Epub 2021 Apr 1.

Division of Cardiology, UF Health Jacksonville, Jacksonville, FL, USA.

A previously healthy octogenarian presented with new onset heart failure symptoms. Comprehensive multimodality imaging including complete echocardiography with longitudinal strain analysis, cardiac magnetic resonance imaging (cMRI), nuclear medicine pyrophosphate (99-mcTcPYP) scan along with biomarker, monoclonal protein analysis, and fat pad biopsy confirmed diagnosis of transthyretin cardiac amyloidosis. Read More

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Acute severe autoimmune hepatitis with anti-rods and rings autoantibodies; literature first evidence.

Gastroenterol Hepatol Bed Bench 2021 ;14(1):89-94

Clinical Investigation Laboratory, ASST Bergamo Est, Seriate, Bergamo, Italy.

Autoimmune hepatitis (AIH) was defined as a progressive, chronic inflammatory autoimmune liver disease (ALD). The diagnosis of AIH requires the presence of characteristic clinical and laboratory features, and the exclusion of other clinical conditions that cause chronic hepatitis and cirrhosis. AIH can have an acute onset that mimics an acute viral or toxic hepatitis or an acute severe (fulminant, ASF) presentation that satisfies criteria for acute liver. Read More

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January 2021

Genetic or Autoimmune: POLG-Related Epilepsy Initially Treated as an Autoimmune Encephalitis, a Case Report.

Neurohospitalist 2021 Jan 25;11(1):80-83. Epub 2020 Aug 25.

Duke University Medical Center, Durham, NC, USA.

Hospital neurologists participate at the forefront of managing fulminant acute and subacute onset epilepsy, frequently attributed to autoimmune encephalitis (AE). As the recognition of antibody-mediated AE grows, there is a growing number of patients who are treated as antibody-negative AE. While antibody-negative autoimmune processes should be considered in the setting of acute and subacute onset of fulminant epilepsy, other causes must be considered before subjecting patients to long-term immunomodulatory treatments and other potential therapeutic toxicities. Read More

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January 2021

From Blocking Shots to Blocking GI Transit, This Professional Basketball Player Does It All: A Case Report on Small Bowel Obstruction.

Case Rep Med 2021 1;2021:5534945. Epub 2021 Apr 1.

Investigation Performed at the Emory Clinic, Department of Orthopaedic Surgery, Emory University, Atlanta, Georgia.

Small bowel obstructions (SBO) are a commonly encountered diagnosis within emergency departments. Typically, these patients have evident risk factors including, but not limited to, prior abdominal surgery, personal or family history of gastrointestinal disorders, femoral and inguinal hernias, or neoplasm. In this case, we describe an SBO in a female, professional athlete whose swift, severe symptom onset, rapid resolution with conservative treatment, lack of identifiable risk factors, and prompt return to high level competition without recurrence are certainly unique. Read More

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Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With Deficiency.

Front Genet 2021 1;12:644447. Epub 2021 Apr 1.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

Objective: To describe the clinical characteristics of 12 patients from six families with pyridoxine-dependent epilepsy (PDE) carrying mutations, and analyze the impact of early diagnosis and treatment, as well as possible genotype-phenotype relationship.

Methods: Clinical and genetics data of 12 patients were collected.

Results: Family 1-3 presented with symptoms in the neonatal period, while family 4-6 presented during early infancy. Read More

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Serum Heparin-Binding Protein as a Potential Biomarker to Distinguish Adult-Onset Still's Disease From Sepsis.

Front Immunol 2021 31;12:654811. Epub 2021 Mar 31.

Department of Rheumatology and Immunology, Ruijin Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China.

Adult-onset Still's disease (AOSD) is a systemic, multifactorial, autoinflammatory disease for which the etiopathogenesis is not well understood. Given the similarities in clinical and laboratory features between this disease and sepsis, and the differences in treatment strategies for these two diseases, specific diagnostic markers are crucial for the correct diagnosis and management of AOSD. Previous studies have shown plasma heparin-binding protein (HBP) is a promising potential biomarker for AOSD; thus, this study aimed to detect serum HBP levels in patients with AOSD or sepsis to assess its potential as a biomarker for differential diagnosis. Read More

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Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood.

Front Immunol 2021 18;12:516427. Epub 2021 Mar 18.

Autoinflammation Reference Center Tuebingen (arcT) and Division of Pediatric Rheumatology, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, Germany.

Monogenic Interleukin 1 (IL-1) mediated autoinflammatory diseases (AID) are rare, often severe illnesses of the innate immune system associated with constitutively increased secretion of pro-inflammatory cytokines. Clinical characteristics include recurrent fevers, inflammation of joints, skin, and serous membranes. CNS and eye inflammation can be seen. Read More

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The Impact of COVID-19 Pandemic Lockdown on the Incidence of New-Onset Type 1 Diabetes and Ketoacidosis Among Saudi Children.

Front Endocrinol (Lausanne) 2021 1;12:669302. Epub 2021 Apr 1.

Pediatric Endocrinology Division, Pediatrics Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Background: Overburdened healthcare systems during the coronavirus disease (COVID-19) pandemic led to suboptimal chronic disease management, including that of pediatric type 1 diabetes mellitus (T1DM). The pandemic also caused delayed detection of new-onset diabetes in children; this increased the risk and severity of diabetic ketoacidosis (DKA). We therefore investigated the frequency of new-onset pediatric T1DM and DKA in Saudi Arabia during the COVID-19 pandemic and compared it to the same period in 2019. Read More

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Testicular Growth and Pubertal Onset in GH-Deficient Children Treated With Growth Hormone: A Retrospective Study.

Front Endocrinol (Lausanne) 2021 2;12:619895. Epub 2021 Apr 2.

Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

The prevalence of idiopathic oligozoospermia has been esteemed as high as 75%. An Italian survey has reported bilateral testicular hypotrophy in 14% of final-year high school students. The search for determinants of testicular growth in childhood is important for the primary prevention of spermatogenic failure. Read More

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Investigation of TSH receptor blocking antibodies in childhood-onset atrophic autoimmune thyroiditis.

Clin Pediatr Endocrinol 2021 3;30(2):79-84. Epub 2021 Apr 3.

Department of Pediatrics, Jichi Medical University, Tochigi, Japan.

Atrophic autoimmune thyroiditis (AAT) is a type of autoimmune hypothyroidism without goiter. TSH receptor-blocking antibodies (TSBAb) are involved in its etiology in adults. Reportedly, this disease is extremely rare in children. Read More

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Phase-amplitude coupling of ripple activities during seizure evolution with theta phase.

Clin Neurophysiol 2021 Mar 26. Epub 2021 Mar 26.

Department of Neurological Diagnosis and Restoration, Graduate School of Medicine, Osaka University, Suita 565-0871, Japan; Endowed Research Department of Clinical Neuroengineering, Global Center for Medical Engineering and Informatics, Osaka University, Suita 565-0871, Japan; Department of Neurosurgery, Graduate School of Medicine, Osaka University, Suita 565-0871, Japan.

Objective: High-frequency activities (HFAs) and phase-amplitude coupling (PAC) are key neurophysiological biomarkers for studying human epilepsy. We aimed to clarify and visualize how HFAs are modulated by the phase of low-frequency bands during seizures.

Methods: We used intracranial electrodes to record seizures of focal epilepsy (12 focal-to-bilateral tonic-clonic seizures and three focal-aware seizures in seven patients). Read More

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Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity.

J Child Neurol 2021 Apr 19:8830738211004736. Epub 2021 Apr 19.

Division of Pediatric Genetics, Department of Pediatrics, 64005Hacettepe University Faculty of Medicine, Ankara, Turkey.

Kohlschütter-Tönz syndrome (OMIM 226750) is a rare disorder with autosomal recessive inheritance among epileptic encephalopathy syndromes. To date, only 31 Kohlschütter-Tönz syndrome families have been reported in the literature. Early-onset epilepsy, progressive global developmental delay, and amelogenesis imperfecta are the main components of the syndrome. Read More

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Attitude and Acceptability of the Self-Sampling in HPV Carrier Women.

Hisp Health Care Int 2021 Apr 19:15404153211001577. Epub 2021 Apr 19.

School of Nursing, The University of Texas at Austin, TX, USA.

Methods: The descriptive, cross-sectional design included a convenience sample of Mexican women with a previous diagnosis of cervical dysplasia.

Results: Women ( = 61) were young adults ( = 27 years, = 6.92) reporting single marital status (55%) and sexually active (93%). Read More

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Hemiconvulsion-Hemiplegia-Epilepsy syndrome with 5q33.3q34 microdeletion: causal or chance association.

Int J Dev Neurosci 2021 Apr 18. Epub 2021 Apr 18.

Department of Pediatric Neurology, the Affiliated Hospital of Qingdao University, No. 1677 Wutaishan Road, Qingdao, Shandong, 266000, China.

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. We present a girl with global developmental delay with history and brain MRI consistent with the diagnosis of HHE syndrome. The cytogenetic microarray (CMA) showed 9. Read More

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Diabetes in pregnancy and risk of near-miss, maternal mortality and foetal outcomes in the USA: a retrospective cross-sectional analysis.

J Public Health (Oxf) 2021 Apr 19. Epub 2021 Apr 19.

College of Pharmacy and Health Sciences, Texas Southern University, Houston, TX 77004, USA.

Background: The prevalence of diabetes in pregnant women has increased in the USA over recent decades. The primary aim of this study was to assess the association between diabetes in pregnancy and maternal near-miss incident, maternal mortality and selected adverse foetal outcomes.

Methods: We conducted a retrospective, cross-sectional analysis among pregnancy-related hospitalizations in USA between 2002 and 2014. Read More

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Failure of IVIG in steroid-responsive autoimmune glial fibrillary acidic protein astrocytopathy: A case report.

Mult Scler Relat Disord 2021 Apr 4;51:102933. Epub 2021 Apr 4.

University of California Irvine (UCI), Department of Neurology, Irvine CA, United States.

Objective: To advocate for high-dose steroids, not intravenous immunoglobulins (IVIG), as first-line treatment for Anti-glial fibrillary acidic protein (GFAP) associated meningoencephalomyelitis.

Background: A novel IgG antibody against GFAP was associated with relapsing autoimmune meningoencephalomyelitis.

Design/methods: Here, we present an investigational case report to highlight continuing challenges in diagnosing and managing Anti-GFAP associated meningoencephalomyelitis. Read More

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Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians.

Am J Med Sci 2021 Apr 15. Epub 2021 Apr 15.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

Acute hepatic porphyria (AHP) is a group of rare, metabolic diseases where patients can experience acute neurovisceral attacks, chronic symptoms, and long-term complications. Diagnostic biochemical testing is widely available and effective, but a substantial time from symptom onset to diagnosis often delays treatment and increases morbidity. A panel of laboratory scientists and clinical AHP specialists collaborated to produce recommendations on how to enhance biochemical diagnosis of AHP in the USA. Read More

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