6,251 results match your criteria Paraneoplastic Diseases


Evaluation of mesenteric panniculitis with computed tomography: benign condition or paraneoplastic syndrome?

Turk J Med Sci 2018 Jun 14;48(3):569-575. Epub 2018 Jun 14.

Background/aim: This study aimed to investigate the prevalence and association of mesenteric panniculitis (MP) with other diseases and the clinicoradiological features of MP, and to examine computed tomography findings to estimate the presence of malignancy in patients with MP. Materials and methods: Between September 2012 and August 2016, we used a keyword search to identify patients diagnosed with MP. Associated diseases and malignancies of patients were recorded. Read More

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The neuropathology of the adult cerebellum.

Authors:
Arnulf H Koeppen

Handb Clin Neurol 2018 ;154:129-149

Research, Neurology, and Pathology Services, Veterans Affairs Medical Center and Departments of Neurology and Pathology, Albany Medical College, Albany, NY, United States. Electronic address:

This chapter summarizes the neuropathologic features of nonneoplastic disorders of the adult cerebellum. Gait ataxia and extremity dysmetria are clinical manifestations of diseases that interrupt the complex cerebellar circuitry between the neurons of the cerebellar cortex, the cerebellar nuclei (especially the dentate nuclei), and the inferior olivary nuclei. The cerebellum is a prominent target of several sporadic and hereditary neurodegenerative diseases, including multiple system atrophy, spinocerebellar ataxia, and Friedreich ataxia. Read More

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January 2018
2 Reads

Paraneoplastic limbic encephalitis associated with mixed olfactory neuroblastoma and craniopharyngioma: A case report and literature review.

Medicine (Baltimore) 2018 Jun;97(24):e10932

Department of Otolaryngology-Head and Neck Surgery, Kyorin University School of Medicine, Tokyo, Japan.

Rationale: Paraneoplastic limbic encephalitis (PLE) is a rare disorder of the nervous system associated with malignant disease. It has a subacute onset with the following symptoms: cognitive dysfunction, seizures, irritability, hallucinations, and short-term memory loss. Herein, we report the case of a 35-year-old man with PLE, an olfactory neuroblastoma (ONB) admixed with craniopharyngioma, and serum anti-Hu antibodies. Read More

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Transcriptomic immune profiling of ovarian cancers in paraneoplastic cerebellar degeneration associated with anti-Yo antibodies.

Br J Cancer 2018 Jun 14. Epub 2018 Jun 14.

Brain and Spine Institute (ICM), Experimental Neuro-Oncology Department, Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06, 75013, Paris, France.

Background: Paraneoplastic neurological syndromes are rare conditions where an autoimmune reaction against the nervous system appears in patients suffering from a tumour, but not linked to the spreading of the tumour. A break in the immune tolerance is thought to be the trigger.

Methods: The transcriptomic profile of 12 ovarian tumours (OT) from patients suffering from paraneoplastic cerebellar degeneration (PCD) linked to anti-Yo antibodies (anti-Yo PCD OT) was compared with 733 ovarian tumours (OT control) from different public databases using linear model analysis. Read More

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An atypical presentation of POEMS syndrome with IgG kappa type M protein and normal VEGF level: Case report and review of literature.

J Cancer Res Ther 2018 Apr-Jun;14(3):679-681

Department of Internal Medicine, Health East Care System, Saint Paul, Minnesota, 55102, USA.

POEMS syndrome is a multisystem disorder characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. We present an atypical case of POEMS syndrome with subclinical polyneuropathy, splenomegaly, hypogonadism, and myeloma of immunoglobulin G kappa type. The typical osteosclerotic lesions and skin lesions were absent, and vascular endothelial growth factor (VEGF) level was normal. Read More

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June 2018
3 Reads

Immune-mediated ataxias.

Handb Clin Neurol 2018 ;155:313-332

French Reference Centre for Paraneoplastic Neurological Syndromes, Lyon Neurological Hospital, Lyon, France; Institut NeuroMyoGene, Université Claude Bernard Lyon 1, Lyon, France. Electronic address:

Immune-mediated cerebellar ataxia (CA) comprises a group of rare diseases that are still incompletely described, and are probably underdiagnosed. Both acute and progressive progressions are possible. Different syndromes have been identified, including CA associated with anti-GAD antibodies, the cerebellar type of Hashimoto encephalopathy, primary autoimmune CA, gluten ataxia, opsoclonus-myoclonus syndrome, and paraneoplastic cerebellar degenerations. Read More

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January 2018

Buccal paraneoplastic pemphigus multi-resistant: Case report and review of diagnostic and therapeutic strategies.

J Stomatol Oral Maxillofac Surg 2018 Jun 8. Epub 2018 Jun 8.

Department of oral and maxillofacial surgery, cliniques universitaires Saint-Luc, université catholique de Louvain, avenue Hippocrate 10, 1200 Woluwe-Saint-Lambert, Belgium.

Paraneoplastic pemphigus is a rare autoimmune blistering disease generally associated with malignancy. The clinical presentation consists typically of painful and diffuse erosive stomatitis that may be accompanied by polymorphic skin lesions and systemic involvement. Diagnosis is based on clinical manifestations and confirmed by histology and immunological testing. Read More

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June 2018
3 Reads

Overview of therapeutic plasma exchange in pediatric neurology: a single-center experience.

Acta Neurol Belg 2018 Jun 7. Epub 2018 Jun 7.

Department of Physiology, Baskent University Faculty of Medicine, Dr Turgut Noyan Teaching and Medical Research Center, Adult Bone Marrow Transplantation Center, Apheresis Unit, Adana, Turkey.

Therapeutic plasma exchange (TPE) is used in the treatment of neurological, hematological, renal and autoimmune diseases with known or suspected immune pathogenesis. In comparison with neurological diseases of adults, knowledge about the use of TPE in children is incomplete. We report our experience on TPE in children with neurological diseases in a single institution and describe the underlying etiology, clinical course, treatment and outcome. Read More

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June 2018
2 Reads

Spinal extradural T-cell lymphoma with paraneoplastic hypereosinophilia in a dog: clinicopathological features, treatment, and outcome.

Clin Case Rep 2018 Jun 6;6(6):999-1005. Epub 2018 Apr 6.

Small Animal Hospital School of Veterinary Medicine College of Medical Veterinary and Life Sciences University of Glasgow Bearsden Road Glasgow G61 1QH UK.

Spinal lymphoma is a rare manifestation of a common canine hematopoietic neoplasia. Description of treatment, outcome, and MRI features are scarce. The latter can be heterogeneous, stressing the importance of lesion excision and analysis. Read More

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Coexistence of myasthenia gravis and Lambert-Eaton myasthenic syndrome in a small cell lung cancer patient: A case report.

Medicine (Baltimore) 2018 Jun;97(23):e10976

Department of Oncology, Binzhou Medical University Hospital, Binzhou, Shandong, P.R. China.

Rationale: Myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) are both neuromuscular junction diseases, and some controversy exists whether the 2 diseases occur at the same time.

Patient Concerns: We report a case that a patient with presentation of acetylcholine receptor (AChR) antibody positive MG and LEMS associated with small cell lung cancer (SCLC).

Diagnoses: The patient firstly suffered from fluctuant symptoms, including slurred speech, double eyelid ptosis, and weakness of limbs. Read More

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June 2018
3 Reads

A Case of Whipple's Disease: A Very Rare Cause for Rapidly Progressive Dementia.

Indian J Psychol Med 2018 May-Jun;40(3):280-283

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

Introduction: Whipple's disease (WD) is a very rare systemic disease caused by the gram-positive bacillus Tropherymawhippleii 1st described in the year 1907. It is a disease with multisystem involvement and high degree of suspicion is needed for diagnosis. However the classical (OMM)oculomasticatory (OFMM)oculofacial-skeletal myorhythmia clubbed with dementia, head ache and other neurologic features should deserve an attempt to confirm whenever possible and therapeutic trial as it is one of the treatable dementias. Read More

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June 2018
2 Reads

Case report of a woman with anti amphiphysin positive stiff person syndrome.

Ideggyogy Sz 2017 May;70(5-6):213-216

Department of Functional Neurosurgery, National Institut of Clinical Neuroscience, Budapest, Hungary.

Stiff person syndrome is a rare neuroimmunological disease, characterized by severe, involuntary stiffness with superimposed painful muscle spasms, which are worsened by external stimuli. The classical form is associated with high levels of antibodies against glutamic acid decarboxylase. One of the variant forms is associated with antibodies against amphiphysin. Read More

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Multicenter validation of [F]-FDG PET and support-vector machine discriminant analysis in automatically classifying patients with amyotrophic lateral sclerosis versus controls.

Amyotroph Lateral Scler Frontotemporal Degener 2018 Jun 4:1-8. Epub 2018 Jun 4.

a Division of Nuclear Medicine and Department of Imaging and pathology , University Hospitals Leuven and KU Leuven , Leuven , Belgium.

Objective: F-Fluorodeoxyglucose (F-FDG) positron emission tomography (PET) single-center studies using support vector machine (SVM) approach to differentiate amyotrophic lateral sclerosis (ALS) from controls have shown high overall accuracy on an individual patient basis using local a priori defined classifiers. The aim of the study was to validate the SVM accuracy on a multicentric level.

Methods: A previously defined Belgian (BE) group of 175 ALS patients (61. Read More

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New onset hyperglycemia attributed to renal cell carcinoma.

Intractable Rare Dis Res 2018 May;7(2):134-137

Department of Internal Medicine, VA Omaha Medical Center, Omaha, NE, USA.

A 61-year-old male was admitted from the outpatient setting for treatment of severe hyperglycemia. Five months earlier, his hemoglobin A1c had been 5 mmol/mol. At presentation, hemoglobin A1c was 11. Read More

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Current Treatment Options for Peripheral Nerve Hyperexcitability Syndromes.

Curr Treat Options Neurol 2018 May 28;20(7):23. Epub 2018 May 28.

Department of Neurology, Penn State University, 30 Hope Drive, EC 037, Hershey, PA, 17033, USA.

Purpose Of Review: Peripheral nerve hyperexcitability (PNH) syndromes are divided into primary and secondary groups based on the presence or absence of demonstrable peripheral nerve disease. In this review, we systematically evaluate the evidence for current therapies and supportive managements based on autoimmune, paraneoplastic, and genetic components in pathophysiology reported in the literature.

Recent Findings: Current therapy options are based on symptomatic management as well as focusing the underlying immune/genetic/paraneoplastic pathology by immunosuppressants, chemotherapy, and surgery. Read More

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Paraneoplastic pemphigus in Russian patients: a single center case series.

Int J Dermatol 2018 May 24. Epub 2018 May 24.

Division of Immune-mediated Skin Diseases, Department of Dermatology and Venereology, I.M. Sechenov First Moscow State Medical University, Moscow, Russia.

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May 2018
4 Reads

Pulmonary adenocarcinoma associated with Guillain-Barré syndrome: A case report.

Medicine (Baltimore) 2018 May;97(21):e10737

Department of Neurology, The Affiliated Hospital of Medical College, Qingdao University, Qingdao, Shandong.

Rationale: Guillain-Barré Syndrome (GBS) as a paraneoplastic manifestation of small cell lung cancer has been published several times, while paraneoplastic GBS accompanied by pulmonary adenocarcinoma is rare.

Patient Concerns: An 80-year-old male was hospitalized with a 2-week history of fever and 10-day history of progressive ascending muscle weakness in the legs and arms. The patient felt weakness in legs at first when he was still able to move around, but the symptoms gradually progressed to the arms. Read More

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Paraneoplastic autoimmune encephalitis associated with pleomorphic lung carcinoma: An autopsy case report.

Neuropathology 2018 May 20. Epub 2018 May 20.

Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.

A 64-year-old man was admitted with acute onset disturbed consciousness. Cerebrospinal fluid analysis revealed pleocytosis and elevated protein, with negative cultures and PCR. Serum antibodies for autoimmune encephalitis were also negative. Read More

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Unilateral paraneoplastic optic disc edema and retinal periphlebitis in pineal germinoma.

Am J Ophthalmol Case Rep 2018 Jun 13;10:236-239. Epub 2018 Mar 13.

Koc University School of Medicine, Department of Ophthalmology, Istanbul, Turkey.

Purpose: To describe a unilateral ocular paraneoplastic syndrome in pineal germinoma.

Observations: A 24-year-old male presented with diplopia, excessive thirst, and frequent urination. Cranial MRI showed a mass in pineal gland. Read More

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Ovarian teratoma associated Anti-N-methyl-D-aspartate receptor encephalitis: a difficult diagnosis with a favorable prognosis.

Autops Case Rep 2018 Apr-Jun;8(2):e2018019. Epub 2018 Apr 18.

University of California, Davis Medical Center, Department of Pathology and Laboratory Medicine . Sacramento, CA , USA .

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently described auto-immune and paraneoplastic encephalitis with prominent neuropsychiatric manifestations affecting young adults with ovarian teratoma. The availability of a novel assay to measure these antibodies might suggest an etiology for this potentially life-threatening disease, which if early recognized can be treated promptly with surgery with chances of a good clinical outcome. Reported prognostic indicators for a good outcome depend on the presence of a tumor, prompt treatment and no admission to an intensive care unit. Read More

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Cutaneous sarcoidosis: a new subset in the spectrum of paraneoplastic dermatoses.

Clin Exp Dermatol 2018 May 20. Epub 2018 May 20.

Department of Dermatology, Al-Azhar University for Girls, Cairo, Egypt.

Background: Sarcoidosis is a well-described disease that can be associated with various malignancies; however, this correlation is still not fully clarified.

Aim: To determine the clinical and histological features, demographic characteristics, and prognosis of patients diagnosed with paraneoplastic sarcoidosis (PS).

Methods: This observational cohort prospective study included all patients diagnosed as cutaneous sarcoidosis. Read More

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Acute transverse myelitis following an opsoclonus-myoclonus syndrome: An unusual presentation.

Eur J Paediatr Neurol 2018 May 8. Epub 2018 May 8.

Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires Paris-Sud, Hôpital Bicêtre, Pediatric Neurology Department, National Referral Center for Rare Inflammatory Brain and Spinal Diseases and Université Paris-Sud, UMR 1184-CEA-IDMIT, Center for Immunology of Viral Infections and Autoimmune Diseases, 94275, Le Kremlin Bicêtre, France. Electronic address:

Opso-myoclonus syndrome (OMS) is a very rare and severe condition. Ataxia, opsoclonus, myoclonus and/or behavioral and sleeping disturbances define that autoimmune disorder syndrome which is paraneoplastic or triggered by an infection. Here, we report a 3 year-old immunocompetent boy who developed an atypical OMS which was later complicated by an acute transverse myelitis. Read More

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May 2018
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[Paraneoplastic syndromes : multiple aspects].

Rev Med Suisse 2018 May;14(607):1015-1020

Service d'oncologie médicale, HUG, 1211 Genève 14.

Knowledge of paraneoplastic syndromes, and above all their diversity, is very important in terms of clinical application because they often forerun the oncologic diagnosis and thereby may be a tell-tale sign. Recognizing them could allow an early diagnosis at the beginning of the disease or at the relapse. The diversity of these syndromes is an additional problem and clinicians must be aware of this differential diagnosis. Read More

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May 2018
1 Read

Two types of ectopic Cushing syndrome or a continuum? Review.

Pituitary 2018 May 15. Epub 2018 May 15.

Department Endocrinology, Hospital Universitario de la Princesa, Madrid, Spain.

Background: Two types of ectopic Cushing syndrome (ECS) are described: ECS associated with aggressive neoplasms, and ECS with indolent and occult tumors, however, there is a lack of studies that thoroughly review their characteristics.

Methods: A systematic review was carried out on PUBMED of all the papers about the ECS, in order to better define the types of this subcategory of Cushing's syndrome, highlighting the differential aspects between these subgroups.

Results: It was found that in 50% of cases the prototypic "aggressive" ECS is caused by small cell lung carcinomas (SCLC). Read More

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Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.

Ann Clin Transl Neurol 2018 May 26;5(5):559-569. Epub 2018 Mar 26.

Neuromuscular Diseases Unit Neurology Department Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain.

Objective: Paraneoplastic neurological syndromes (PNS) are rare neurological disorders in which ectopic expression of neural antigens by a tumor results in an autoimmune attack against the nervous system. Onconeural antibodies not only guide PNS diagnosis but may also help detecting underlying malignancies. Our project aims to uncover new potential antibodies in paraneoplastic neuropathies (PN). Read More

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May 2018
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Autoimmunity Mimics: Infection and Malignancy.

Prim Care 2018 Jun;45(2):343-360

Rheumatology Service, U.S. Air Force, Medical Corps, Walter Reed National Military Medical Center, Uniformed Services University, 4301 Jones Bridge Road, Bethesda, MD 20814-4799, USA.

Musculoskeletal rheumatic syndromes are commonly encountered in the primary care setting. A plethora of commonly encountered and rare infectious agents can produce osteoarticular and soft tissue manifestations. Likewise, malignancies may manifest rheumatic symptoms via direct tumor invasion or paraneoplastic effects. Read More

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June 2018
1 Read

Coexistence of Lambert-Eaton myasthenic syndrome and autoimmune encephalitis with anti-CRMP5/CV2 and anti-GABAB receptor antibodies in small cell lung cancer: A case report.

Medicine (Baltimore) 2018 May;97(19):e0696

Department of Neurology, Affiliated Hospital of Jining Medical University, Jining.

Rationale: Autoimmune encephalitis and Lambert-Eaton myasthenic syndrome are classic paraneoplastic neurological conditions common in patients with small cell lung cancer.

Patient Concerns: The patient complained of tiredness, fluctuating recent memory loss, and inability to find his home. His family members reported a change in character, irritability, and paranoia. Read More

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Cancer-Related Neuropathic Pain: Review and Selective Topics.

Authors:
Mellar P Davis

Hematol Oncol Clin North Am 2018 Jun 9;32(3):417-431. Epub 2018 Mar 9.

Department of Palliative Care, Geisinger Medical Center, 100 North Academy Avenue, Danville, PA 17822, USA. Electronic address:

Neuropathic pain is the result of neuroplastic and neuroinflammatory changes from trauma or diseases that damage the somatosensory system. Cancer-related neuropathic pain is caused by treatment, cancer, or paraneoplastic reactions to cancer. Approximately 30% of patients with cancer have neuropathic pain, mostly mixed nociceptive and neuropathic pain. Read More

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Motor neuron disease of paraneoplastic origin: a rare but treatable condition.

J Neurol 2018 May 3. Epub 2018 May 3.

Département de Neurophysiologie clinique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

Paraneoplastic motor neuron disorders (MND) are rare conditions; their exact clinical and electrophysiological phenotype have not been exhaustively described yet. The purpose of this study is to depict the main characteristics of paraneoplastic MND to highlight the features that may allow its diagnosis. Based on the description of eight original cases, and on the revision of 21 patients identified from a systematic review of the literature, the main features of paraneoplastic MND can be summarized as follows: (1) subacute; (2) lower motor neuron syndrome, associated or not with upper motor neuron involvement; (3) predominant asymmetric upper limb involvement; (4) presence of other non-motor neurological manifestations, including sensory neuronopathy; (5) signs of inflammation in the cerebrospinal fluid (CSF); (6) neurological improvement or stabilization after immunotherapy and tumor treatment. Read More

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Necrotizing Autoimmune Myopathy: Clinicopathologic Study from a Single Tertiary Care Centre.

Ann Indian Acad Neurol 2018 Jan-Mar;21(1):62-67

Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.

Background: Idiopathic inflammatory myopathies (IIMs) are a group of chronic, autoimmune disorders which include a new entity, necrotizing autoimmune myopathy (NAM). NAM lacks inflammation and presents with markedly elevated creatinine phosphokinase (CPK) levels. It is associated with connective tissue diseases (CTDs), statin use, malignancies, and most cases are idiopathic. Read More

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Various clinical features of patients with anti-Hu associated paraneoplastic neurological syndromes: An observational study.

Authors:
Jia Li Weihong Lin

Medicine (Baltimore) 2018 May;97(18):e0649

Department of Neurology and Neuroscience Center, First Hospital of Jilin University, Changchun, China.

To describe and analyze the clinical features and prognosis of patients with anti-Hu associated paraneoplastic neurological syndromes (PNS).The symptoms, MRI findings, cerebrospinal fluid (CSF) changes, electroencephalogram (EEG) characteristics and prognoses of 9 well-diagnosed anti-Hu associated PNS patients were analyzed.The study enrolled 6 female and 3 male patients. Read More

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May 2018
2 Reads

First pathological report of a de novo CD5-positive diffuse large B-cell lymphoma patient presenting with Guillain-Barré syndrome-like neuropathy due to neurolymphomatosis.

Neuropathology 2018 May 2. Epub 2018 May 2.

Department of Pathology, Shinshu University School of Medicine, Matsumoto, Japan.

Peripheral neuropathy occurs in approximately 5% of the patients with lymphoma. Two major causes of peripheral neuropathy associated with lymphoma are neurolymphomatosis and paraneoplastic neuropathy such as demyelinating neuropathy. The differential diagnosis between neurolymphomatosis and demyelinating neuropathy is difficult, because electrophysiological findings suggestive of demyelination are frequently observed even in patients with neurolymphomatosis. Read More

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May 2018
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Are Anti-Retinal Autoantibodies a Cause or a Consequence of Retinal Degeneration in Autoimmune Retinopathies?

Authors:
Grazyna Adamus

Front Immunol 2018 16;9:765. Epub 2018 Apr 16.

School of Medicine, Casey Eye Institute, Oregon Health & Science University, Portland, OR, United States.

Autoantibodies (AAbs) against various retinal proteins have been associated with vision loss in paraneoplastic and non-paraneoplastic autoimmune retinopathies (AR). There are two major paraneoplastic syndromes associated anti-retinal AAbs, cancer-associated retinopathy (CAR), and melanoma-associated retinopathy. Some people without a cancer diagnosis may present symptoms of CAR and have anti-retinal AAbs. Read More

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April 2018
2 Reads

Uncommon reasons of the digestive tract-related paraneoplastic syndromes in children with neuroblastic tumors: three case reports.

Contemp Oncol (Pozn) 2018 3;22(1):42-46. Epub 2018 Apr 3.

Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.

Aim Of The Study: presentation of the uncommon paraneoplastic syndromes related to the gastrointestinal tract that may occur in children with neuroblastic tumors and their impact on the disease course.

Material And Methods: Retrospective analysis of three cases of patients mainly with digestive tract-related symptoms, who were originally admitted to the gastroenterology department from 2013 to 2016 and were finally diagnosed with neuroblastic tumors.

Results: The clinical data analysis showed that the symptoms from gastrointestinal tract were dominant in analyzed subjects. Read More

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Syndrome and outcome of antibody-negative limbic encephalitis.

Eur J Neurol 2018 Apr 18. Epub 2018 Apr 18.

Neuroimmunology Program, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.

Background And Purpose: The aim was to report the clinical characteristics of 12 patients with limbic encephalitis (LE) who were antibody-negative after a comprehensive immunological study.

Methods: The clinical records of 163 patients with LE were reviewed. Immunohistochemistry on rat brain, cultured neurons and cell-based assays were used to identify neuronal autoantibodies. Read More

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Auto-antibodies against P/Q- and N-type voltage-dependent calcium channels mimicking frontotemporal dementia.

SAGE Open Med Case Rep 2018 10;6:2050313X17750928. Epub 2018 Apr 10.

Department of Neurology, The University of Texas Health Science Center at Houston, Houston, TX, USA.

The behavioral variant of frontotemporal dementia is usually a sporadic and progressive neurodegenerative disorder. Here, we report the subacute onset of a frontotemporal dementia phenotype with a treatable etiology. The patient has a history of rheumatoid arthritis, episcleritis, and thyroid eye disease on immunosuppressive therapy. Read More

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Stauffer's syndrome: A comprehensive review and proposed updated diagnostic criteria.

Urol Oncol 2018 Jul 12;36(7):321-326. Epub 2018 Apr 12.

Department of Medical Oncology, Portuguese Oncology Institute of Porto, Porto, Portugal; Portuguese Genitourinary Group (GPGU), Lisbon, Portugal.

Background: Stauffer's syndrome corresponds to a set of clinical and analytical changes of paraneoplastic nature firstly recognized more than 50 years ago, in association to renal cell carcinoma. A definitive review including universal diagnostic criteria and updated knowledge since the original description is lacking.

Basic Procedures: The authors conducted a comprehensive bibliographical review and propose updated diagnostic criteria to standardize diagnosis for clinical practice purposes and avoid misclassification. Read More

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July 2018
2 Reads

Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype.

Hum Genome Var 2018 5;5:18016. Epub 2018 Apr 5.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is a rare phenotype resulting from pathogenic variants of mitochondrial DNA polymerase gamma (). We modeled a novel variant, T599P, that causes the SANDO phenotype and another variant at the same residue, p.T599E, to observe their effect on protein function and confirm the pathogenicity of T599P. Read More

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[Paraneoplastic syndromes in rheumatology].

Authors:
Marc Schmalzing

Z Rheumatol 2018 May;77(4):309-321

Zentrum Innere Medizin, Medizinische Klinik und Poliklinik II, Rheumatologie/Klinische Immunologie, Oberdürrbacher Str. 6, 97080, Würzburg, Deutschland.

Rheumatic paraneoplastic syndromes are paraneoplastic arthritis, palmar fasciitis and polyarthritis syndrome, remitting seronegative symmetrical synovitis with pitting edema, pancreatic panniculitis with polyarthritis, paraneoplastic vasculitis, cancer-associated myositis, hypertrophic osteoarthropathy (Marie-Bamberger disease) and tumor-induced osteomalacia. Typical clinical manifestations, pathogenesis, prognosis, and treatment of this entity are presented. Knowledge of these disease entities can lead to timely diagnosis of the underlying malignant disease and to a higher probability of a cure. Read More

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May 2018
1 Read

[Cerebellar Ataxia and Autoantibodies].

Brain Nerve 2018 Apr;70(4):371-382

Tokyo Medical University Hachioji Medical Center, Department of Neurology, Tokyo Medical University Hachioji Medical Center.

The cerebellum is one of the main targets in the central nervous system for autoimmunity. Immune-mediated cerebellar ataxias include gluten ataxia, GAD antibody-associated cerebellar ataxia, Hashimoto's encephalopathy, and paraneoplastic cerebellar degeneration. Autoimmune cerebellar ataxia may be of either insidious or subacute onset, and vertigo or transient neurological symptoms occur in some patients before the onset of the disease, in contrast to spinocerebellar degeneration. Read More

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April 2018
2 Reads

[P/Q-type Calcium Channel Antibodies in Lambert-Eaton Myasthenic Syndrome].

Brain Nerve 2018 Apr;70(4):341-355

Department of Neurology and Strokology, Nagasaki University Hospital.

Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease of the neuromuscular junction. Approximately 50-60% of patients with LEMS have a tumor, most often small cell lung cancer (SCLC), making LEMS a paraneoplastic neurological syndrome. In Japan, the clinical picture is a male: female ratio of 3:1; mean age, 62 years (17-80 years); and 61% of LEMS patients have SCLC (SCLC-LEMS), with the remainder of patients having no cancer. Read More

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Paraneoplastic pemphigus without antibodies to desmoglein 1 and 3.

Dermatol Online J 2018 02 15;24(2). Epub 2018 Feb 15.

Feinberg School of Medicine, Northwestern University, Chicago, Illinois,.

Paraneoplastic pemphigus is a severe autoimmune blistering disease presenting in the setting of underlying malignancy. Paraneoplastic pemphigus is associated with diffuse painful stomatitis throughout the oral cavity with extension to the lips. The cutaneous findings are varied and have been described as lichenoid, pemphigoid, and targetoid lesions. Read More

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February 2018
2 Reads

Immune-Mediated Myelopathies.

Continuum (Minneap Minn) 2018 Apr;24(2, Spinal Cord Disorders):497-522

Purpose Of Review: This article reviews the clinical presentation, diagnostic evaluation, and management of immune-mediated myelopathies.

Recent Findings: The discovery of several neural autoantibodies and their antigenic targets has revolutionized the investigation and treatment of immune-mediated myelopathies. Detection of these serologic biomarkers can support or establish a diagnosis of an autoimmune myelopathy, and, in the case of paraneoplastic syndromes, indicate the likely presence of an underlying malignancy. Read More

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Autoimmune encephalitis and psychiatric disorders.

Rev Neurol (Paris) 2018 Apr 31;174(4):228-236. Epub 2018 Mar 31.

Centre de référence maladies rares 'Syndromes neurologiques paranéoplasiques', hospices civils de Lyon, hôpital neurologique, neurologie B, 69677 Bron, France; INMG (NeuroMyoGene Institut), Inserm U1217/CNRS UMR 5310, 69372 Lyon, France; Université de Lyon - université Claude-Bernard Lyon 1, 69372 Lyon, France.

Autoimmune encephalitis (AE) refers to a rare, newly described, group of diseases associated with specific circulating autoantibodies directed against neuronal proteins used as biomarkers of the disease. Characterization of the associated autoantibodies present in the patients' cerebrospinal fluid (CSF) and/or sera can differentiate the various AE subgroups, which have specific clinical presentations and prognoses, and is therefore essential for proposing appropriate treatments. As psychiatric symptoms may predominate at the onset or over the course of these diseases, the diagnosis is frequently delayed. Read More

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Immune checkpoint inhibitors in small cell lung cancer.

J Thorac Dis 2018 Feb;10(Suppl 3):S460-S467

Department of Hematology and Medical Oncology, Winship Cancer Institute of Emory University, Atlanta, GA, USA.

Small cell lung cancer (SCLC) is a rapidly progressive cancer that often debilitates patients within months of detection and quickly becomes refractory to the limited options of therapy. While SCLC is not generally considered an immunogenic tumor, clinical experience suggests that patients with robust immune response manifesting as paraneoplastic syndrome are more likely to present with limited stage of the disease and tend to have a better prognosis. Monoclonal antibodies targeting critical negative regulators of immune response, so called immune checkpoints, such as cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and programmed death 1 (PD-1) have expanded the application of immune-based therapies to increasing number of advanced stage cancers. Read More

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February 2018
1 Read

Comorbidity in polymyalgia rheumatica.

Reumatismo 2018 Mar 27;70(1):35-43. Epub 2018 Mar 27.

Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds.

Polymyalgia rheumatica (PMR) is the commonest inflammatory rheumatic disease affecting older people. The current mainstay of treatment is long-term oral glucocorticoid therapy. Management of these patients in clinical practice is often complicated by the presence of comorbidity. Read More

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March 2018
1 Read

The real evidence for polymyalgia rheumatica as a paraneoplastic syndrome.

Reumatismo 2018 Mar 27;70(1):23-34. Epub 2018 Mar 27.

Institute for Primary Care & Health Sciences, Keele University.

The aim of this study was to systematically consider the evidence for polymyalgia rheumatica (PMR) as a paraneoplastic disease. A systematic review of Medline and Embase was conducted from their inception to February 2017. Risk of bias was assessed using the Newcastle-Ottawa tool. Read More

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March 2018
6 Reads

A rare case of unilateral diffuse melanocytic proliferation.

Indian J Ophthalmol 2018 04;66(4):588-590

Vitreretina Serices, M M Joshi Eye Institute, Hubballi, Karnataka, India.

A 67-year-old woman presented with metamorphopsia in the right eye. Leopard mottling was seen temporal to the fovea oculus dexter with corresponding hyper- and hypo-autofluorescent lesions on fundus autofluorescence. Spectral domain-optical coherence tomography revealed hyperreflective dots in the retinal pigment epithelium and choroid with subretinal fluid (SRF). Read More

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April 2018
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