244 results match your criteria syndrome unclassifiable

Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.

Genes (Basel) 2021 Jul 8;12(7). Epub 2021 Jul 8.

Department of Regional Health Research, University of Southern Denmark, DK-5230 Odense, Denmark.

The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now increasingly available and have led to a significant higher diagnostic yield in early-onset epilepsies and enabled precision medicine approaches. These have been instrumental in providing insights into the pathophysiology of both early-onset benign and self-limited syndromes and devastating developmental and epileptic encephalopathies (DEEs). Read More

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Multi-Omics Analyses Show Disease, Diet, and Transcriptome Interactions With the Virome.

Gastroenterology 2021 Jul 7. Epub 2021 Jul 7.

Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota; Department of Physiology and Biomedical Engineering, Mayo Clinic, Rochester, Minnesota. Electronic address:

Background & Aims: The gut virome includes eukaryotic viruses and bacteriophages that can shape the gut bacterial community and elicit host responses. The virome can be implicated in diseases, such as irritable bowel syndrome (IBS), where gut bacteria play an important role in pathogenesis. We provide a comprehensive and longitudinal characterization of the virome, including DNA and RNA viruses and paired multi-omics data in a cohort of healthy subjects and patients with IBS. Read More

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Fibrosing interstitial lung disease in primary Sjogren syndrome.

Joint Bone Spine 2021 Jun 9;88(6):105237. Epub 2021 Jun 9.

Rheumatology Unit, University of Modena and Reggio-Emilia, Modena, Italy.

Objectives: Interstitial lung disease (ILD) represents the main pulmonary involvement in primary Sjogren syndrome (pSS). A proportion of patients with pSS develop a progressive fibrosing form of ILD, but no data are available about the prevalence of these patterns in pSS patients. Aim of this monocentric, cross-sectional study was to investigate the prevalence of fibrosing patterns in pSS patients with ILD. Read More

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Mismatch repair deficiency is rare in bone and soft tissue tumors.

Histopathology 2021 Apr 7. Epub 2021 Apr 7.

Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.

Introduction: There has been an increased demand for mismatch repair (MMR) status testing in sarcoma patients after the success of immune checkpoint inhibition (ICI) in MMR deficient tumors. However, data on MMR deficiency in bone and soft tissue tumors is sparse, rendering it unclear if routine screening should be applied. Hence, we aimed to study the frequency of MMR deficiency in bone and soft tissue tumors after we were prompted by two (potential) Lynch syndrome patients developing sarcomas. Read More

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Phacomatosis spilorosea versus phacomatosis melanorosea: a critical reappraisal of the worldwide literature with updated classification of phacomatosis pigmentovascularis.

Daniele Torchia

Acta Dermatovenerol Alp Pannonica Adriat 2021 Mar;30(1):27-30

Department of Dermatology, James Paget University Hospital, Gorleston-on-Sea, United Kingdom.

Introduction: Phacomatosis pigmentovascularis is a term encompassing a group of disorders characterized by the coexistence of a segmental pigmented nevus of melanocytic origin and segmental capillary nevus. Over the past decades, confusion over the names and definitions of phacomatosis spilorosea, phacomatosis melanorosea, and their defining nevi, as well as of unclassifiable phacomatosis pigmentovascularis cases, has led to several misplaced diagnoses in published cases.

Methods: A systematic and critical review of the worldwide literature on phacomatosis spilorosea and phacomatosis melanorosea was carried out. Read More

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Favorable outcome of a patient with an unclassifiable myelodysplastic syndrome/myeloproliferative neoplasm treated with allogeneic hematopoietic stem cell transplantation.

SAGE Open Med Case Rep 2021 22;9:2050313X20988413. Epub 2021 Jan 22.

Section of Hematology, Department of Medicine, Haukeland University Hospital, Bergen, Norway.

The entity myelodysplastic syndrome/myeloproliferative neoplasm overlap syndrome is characterized by the coexistence of both myeloproliferative and myelodysplastic features in the bone marrow. Risk assessment and treatment recommendations have not been standardized, and clinicians rely on updated patient studies and reviews to make decisions for treatment approaches. Histopathological features have traditionally been important, although in the last decade, several studies have reported mutational profiles of this rare disease. Read More

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January 2021

[Interstitial lung disease associated with connective tissue disease].

Pathologe 2021 Feb 8;42(1):4-10. Epub 2021 Jan 8.

Klinik für Rheumatologie, Klinische Immunologie und Nephrologie, Helios Dr. Horst Schmidt-Kliniken Wiesbaden, Wiesbaden, Deutschland.

Interstitial lung disease (ILD) is the most frequent organ manifestation in rheumatic autoimmune disease. Depending on the underlying autoimmune disease, differently pronounced affections of small airways, interstitial parenchyma, and vessels are found. The group of rheumatic autoimmune diseases mainly includes connective tissue diseases (CTDs), also known as collagen vascular diseases, such as rheumatoid arthritis (RA), systemic sclerosis, (SSc), systemic lupus erythematosus, primary Sjögren's syndrome, idiopathic inflammatory myositis (IIM), and interstitial pneumonia with autoimmune features (IPAF). Read More

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February 2021

Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.

Hematology Am Soc Hematol Educ Program 2020 12;2020(1):450-459

Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN.

Myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) overlap syndromes are uniquely classified neoplasms occurring in both children and adults. This category consists of 5 neoplastic subtypes: chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), BCR-ABL1-negative atypical chronic myeloid leukemia (aCML), MDS/MPN-ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), and MDS/MPN-unclassifiable (U). Cytogenetic abnormalities and somatic copy number variations are uncommon; however, >90% patients harbor gene mutations. Read More

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December 2020

Myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes: a focused review.

Hematology Am Soc Hematol Educ Program 2020 12;2020(1):460-464

Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN.

Myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) overlap syndromes are unique myeloid neoplasms, with overlapping features of MDS and MPN. They consist of four adult onset entities including chronic myelomonocytic leukemia (CMML), MDS/MPN-ring sideroblasts-thrombocytosis (MDS/MPN-RS-T), BCR-ABL1 negative atypical chronic myeloid leukemia (aCML) and MDS/MPN-unclassifiable (MDS/MPN-U); with juvenile myelomonocytic leukemia (JMML) being the only pediatric onset entity. Among these overlap neoplasms, CMML is the most frequent and is hallmarked by the presence of sustained peripheral blood monocytosis with recurrent mutations involving TET2 (60%), SRSF2 (50%) and ASXL1 (40%); with RAS pathway mutations and JAK2V617F being relatively enriched in proliferative CMML subtypes (WBC ≥13 × 109/L). Read More

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December 2020

Spectrum of myelodysplastic syndrome in patients evaluated for cytopenia(s). A Report from a Reference Centre in Saudi Arabia.

Hematol Oncol Stem Cell Ther 2020 Nov 18. Epub 2020 Nov 18.

Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. Electronic address:

Background/objective: Myelodysplastic syndrome (MDS) is a clonal disorder of hematopoietic stem cells, characterized by ineffective hematopoiesis, peripheral cytopenias along with hypercellularity of the bone marrow, and marked dysplastic features. Establishing MDS diagnosis is difficult due to nonspecific clinical presentation and imprecise morphological criteria. In anticipation to improve the diagnostic approach in this field, we aimed to characterize the clinical and morphological features of patients presented with cytopenias with a special focus on MDS. Read More

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November 2020

Defining Features of Hand Anomalies in Severe Thumb Hypoplasia: A Classification Modification.

J Hand Surg Am 2021 05 12;46(5):422.e1-422.e5. Epub 2020 Nov 12.

Department of Orthopaedic Surgery, Washington University School of Medicine, Saint Louis, MO. Electronic address:

Purpose: To investigate morphologic hand anomalies in children with severe but unclassifiable forms of thumb hypoplasia and radial-sided hand deficiency.

Methods: We identified 15 extremities in 13 patients with severe thumb hypoplasia and associated absent radial-sided digits through the Congenital Upper Limb Differences registry. All patients had forearm involvement. Read More

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Ruxolitinib Plus Decitabine Effectively Treats Myelodysplastic Syndrome/Myeloproliferative Neoplasm, Unclassifiable, by Decreasing the Variant Allele Frequency of .

Onco Targets Ther 2020 9;13:10143-10148. Epub 2020 Oct 9.

Department of Hematology, The Fourth Affiliated Hospital of Zhejiang University School of Medicine, Yiwu, Zhejiang, People's Republic of China.

Myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U) is a subtype of MDS/MPN that exhibits a combination of the features of both MDS and MPN. To date, no curative treatment is available for MDS/MPN-U; however, previous studies have suggested a potential survival advantage for ruxolitinib and hypomethylating agents. We reported a case of a -negative but -positive MDS/MPN-U patient treated with ruxolitinib plus decitabine. Read More

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October 2020

Prevalence of Novel Myositis Autoantibodies in a Large Cohort of Patients with Interstitial Lung Disease.

J Clin Med 2020 Sep 11;9(9). Epub 2020 Sep 11.

ILD Center of Excellence, Department of Pulmonology, St. Antonius Hospital, Post box 2500, 3435 CM Nieuwegein, The Netherlands.

Connective tissue diseases (CTDs) are an important secondary cause of interstitial lung disease (ILD). If a CTD is suspected, clinicians are recommended to perform autoantibody testing, including for myositis autoantibodies. In this study, the prevalence and clinical associations of novel myositis autoantibodies in ILD are presented. Read More

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September 2020

Assessment of adverse reactions to α-lipoic acid containing dietary supplements through spontaneous reporting systems.

Clin Nutr 2021 03 29;40(3):1176-1185. Epub 2020 Jul 29.

Pharmacology Unit, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.

Background & Aims: Alpha-lipoic acid (ALA)-containing dietary supplements are widely used in clinical practice, although their safety assessment is under-investigated. We characterize the safety profile of ALA-containing products by analysing spontaneous reports of suspected adverse reactions (ARs).

Methods: Suspected ARs to ALA-containing products were extracted from the Italian Phytovigilance System (IPS), and scrutinized in terms of seriousness and causality (through WHO UMC system), with a specific focus on important (IMEs) and designated medical events (DMEs). Read More

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Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases.

Genes Brain Behav 2020 09 26;19(7):e12687. Epub 2020 Aug 26.

Child & Adolescent Psychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Increasing evidence links heterozygosity for NRXN1 gene deletions to a clinically wide spectrum of neurodevelopmental, psychiatric, and neurological disorders. However, to date, the neurocognitive and social communication features of children carrying this genomic rearrangement have not been assessed in detail. The cognitive and behavioral profiles of five children carrying a heterozygous NRXN1 deletion were investigated through systematic assessment of the cognitive and developmental levels, adaptive profile and presence of behavioral symptoms and autistic features. Read More

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September 2020

Advances in Targeted Therapy for Progressive Fibrosing Interstitial Lung Disease.

Lung 2020 08 26;198(4):597-608. Epub 2020 Jun 26.

Division of Pulmonary and Critical Care Medicine, NYU Langone Health, New York University Grossman School of Medicine, 550 1 Ave, New York, NY, 10016, USA.

Progressive fibrosing interstitial lung disease (PF-ILD) has been redefined as a new clinical syndrome that shares similar genetics, pathophysiology, and natural history to idiopathic pulmonary fibrosis (IPF). IPF is the most common form of idiopathic interstitial pneumonias, which is progressive in nature and is associated with significant mortality. Therapies targeting an inflammatory and/or immune response have not been consistently effective or well tolerated in patients with IPF. Read More

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Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U): More than just a "catch-all" term?

Best Pract Res Clin Haematol 2020 06 6;33(2):101132. Epub 2019 Dec 6.

Section of Hematology, Department of Internal Medicine, Yale University School of Medicine, New Haven, USA; Yale Cancer Center, New Haven, USA.

The clinicopathology of MDS and MPN are not mutually exclusive and for this reason the category of myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) exists. Several sub-entities have been included under the MDS/MPN umbrella, including MDS/MPN-unclassifiable (MDS/MPN-U) for those cases whose morphologic and clinical phenotype do not meet criteria to be classified as any other MDS/MPN sub-entity. Though potentially regarded as a wastebasket diagnosis, since its integration into myeloid disease classification, MDS/MPN-U has been refined with increasing understanding of the mutational and genomic events that drive particular clinicopathologic phenotypes, even within MDS/MPN-U. Read More

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Amyloid PET in Dementia Syndromes: A Chinese Multicenter Study.

J Nucl Med 2020 12 8;61(12):1814-1819. Epub 2020 May 8.

Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, Department of Neurology, Tianjin Dementia Institute, Tianjin Huanhu Hospital, Tianjin, China

Cerebral β-amyloid deposits and regional glucose metabolism assessed by PET are used to distinguish between Alzheimer disease (AD) and other dementia syndromes. In the present multicenter study, we estimated the prevalence of β-amyloid deposits on PET imaging in a wide variety of dementia syndromes and mild cognitive impairment (MCI) within a memory clinic population. Of the 1,193 consecutive patients with cognitive impairment (CI) who received 1 C-PIB PET or F-AV45 PET or both C-PIB PET and F-AV45 PET, 960 were diagnosed with AD, 36 with frontotemporal dementia (FTD), 5 with dementia with Lewy bodies, 144 with MCI, 29 with vascular dementia, 4 with corticobasal syndrome, and 15 with unclassifiable dementia. Read More

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December 2020

Genetic generalized and focal epilepsy prevalence in the North American SUDEP Registry.

Neurology 2020 04 26;94(16):e1757-e1763. Epub 2020 Mar 26.

From the Comprehensive Epilepsy Center (C.V., D.F., O.D.), New York University School of Medicine, New York; and Division of Neurology (E.D.), The Hospital for Sick Children, University of Toronto, Canada.

Objective: To assess relative rates and clinical features of patients with genetic generalized epilepsy (GGE), focal epilepsy (FE), and developmental encephalopathic epilepsy (DEE) in the North American SUDEP Registry (NASR).

Methods: We identified all adjudicated definite, definite plus, and probable sudden unexpected death in epilepsy (SUDEP) cases (n = 262) and determined epilepsy type (GGE, FE, or DEE) from medical record review including history, imaging and EEG results, genetics, and next-of-kin interviews.

Results: Of the 262 SUDEP cases, 41 occurred in GGE, 95 in FE, 24 in DEE, and 102 were unclassifiable. Read More

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High Division of the Median Nerve with Unusually High Origin of the 3rd Space Common Digital Nerve.

Injury 2020 Dec 9;51 Suppl 4:S96-S102. Epub 2020 Mar 9.

Plastic Surgery Reconstructive Microsurgery Department, Rehabilitation Clinical Hospital, Cluj Napoca, Romania; Plastic Surgery Reconstructive Microsurgery Department, University of Medicine Iuliu Hatieganu, Cluj Napoca, Romania.

Background: Median nerve (MN) variation in the carpal tunnel has been well documented by Lanz. Encountering rarely documented variants, that do not fit into existing classifications, increases the risk of iatrogenic injury.

Methods: The random occurrence of two unclassifiable anatomical variants of the MN in the carpal tunnel gives motivation to search the literature for similar and identical cases. Read More

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December 2020

Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.

Haematologica 2021 01 1;106(1):64-73. Epub 2021 Jan 1.

Clinical Haematology, Peter MacCallum Cancer Centre/Royal Melbourne Hospital, Melbourne, Australia.

Bone marrow failure (BMF) related to hypoplasia of hematopoietic elements in the bone marrow is a heterogeneous clinical entity with a broad differential diagnosis including both inherited and acquired causes. Accurate diagnostic categorization is critical to optimal patient care and detection of genomic variants in these patients may provide this important diagnostic and prognostic information. We performed real-time, accredited (ISO15189) comprehensive genomic characterization including targeted sequencing and whole exome sequencing in 115 patients with BMF syndrome (median age 24 years, range 3 months - 81 years). Read More

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January 2021

Clinical features and aetiology of cerebral palsy in children from Cross River State, Nigeria.

Arch Dis Child 2020 07 20;105(7):625-630. Epub 2020 Jan 20.

International Centre for Eye Health, London School of Hygiene and Tropical Medicine, London, United Kingdom.

Objective: There are few studies on cerebral palsy (CP) in African children and our study aimed to describe the aetiology, characteristics and severity of CP in children from Nigeria.

Design: A population-based study using key informant methodology (KIM) was conducted as part of a clinical research trial. Children aged 4-15 years were clinically assessed for CP. Read More

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Possible value of antifibrotic drugs in patients with progressive fibrosing non-IPF interstitial lung diseases.

BMC Pulm Med 2019 Nov 12;19(1):213. Epub 2019 Nov 12.

Center for interstitial and rare lung diseases, Pneumology, Thoraxklinik, University of Heidelberg, Germany and German Center for Lung Research, Heidelberg, Germany.

Background: Fibrosing, non-idiopathic pulmonary fibrosis (non-IPF) interstitial lung diseases (fILDs) are a heterogeneous group of diseases characterized by a different amount of inflammation and fibrosis. Therapy is currently based on corticosteroids and/or immunomodulators. However, response to these therapies is highly variable, sometimes without meaningful improvement, especially in more fibrosing forms. Read More

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November 2019

Clinical outcome of patients diagnosed with myelodysplastic syndrome-unclassifiable (MDS-U): single center experience.

Leuk Lymphoma 2019 10 7;60(10):2483-2487. Epub 2019 Mar 7.

Division of Hematology, Mayo Clinic , Rochester , MN , USA.

Myelodysplastic syndrome unclassifiable (MDS-U) is a small subtype of myelodysplastic syndromes (MDS). However, rare literature exists in terms of natural progression and clinical outcome of patients with MDS-U. In the present study, we investigated the characteristics and the clinical outcomes of patients categorized as MDS-U based on 2008 World Health Organization criteria (WHO) in a single center comparing to other MDS groups. Read More

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October 2019

Primary Mediastinal Nodal and Extranodal Non-Hodgkin Lymphomas: Current Concepts, Historical Evolution, and Useful Diagnostic Approach: Part 1.

Adv Anat Pathol 2019 Nov;26(6):346-370

Department of Pathology, M.D. Anderson Cancer Center, Houston, TX.

Primary mediastinal non-Hodgkin lymphomas (PM-NHLs) represent ~5% of all NHLs and comprise lymphomas of B-cell and T-cell origin. PM-NHLs are defined as involvement of mediastinal lymph nodes, thymus, and/or mediastinal organs (heart, lung, pleura, pericardium) by NHL without evidence of systemic disease at presentation. The clinical scenario is variable and depends on the lymphoma subtype. Read More

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November 2019

A case of central nervous system graft-versus-host disease following allogeneic stem cell transplantation.

Int J Hematol 2019 Nov 15;110(5):635-639. Epub 2019 Jul 15.

Department of Internal Medicine, Seoul St. Mary's Hematology Hospital, College of Medicine, The Catholic University of Korea, Banpo-daero 222, Seocho-Gu, Seoul, 06591, Republic of Korea.

Graft-versus-host disease (GVHD) is a serious complication of allogeneic stem cell transplantation (SCT). Here, we report a rare case of GVHD involving the central nervous system (CNS). A 35-year-old woman was diagnosed with myelodysplastic syndrome unclassifiable and underwent allogeneic peripheral blood SCT for disease progression to myelodysplastic syndrome with excess blasts-2. Read More

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November 2019

[Vertigo in children:composition and clinical characteristics].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019 Jun;33(6):481-484

Department of Otolaryngology Head and Neck Surgery, the Affiliated Sixth People's Hospital, Shanghai Jiao Tong University, Shanghai, 200233, China.

To explore composition and characteristics of vertigo in children. The diagnosis, medical history and examinations of 46 patients (≤17 years old) with vertigo were studied retrospectively. Of the 46 children patients with vertigo enrolled in this study, 19 patients were with BPVC(41. Read More

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Acquired sensorimotor polyneuropathy in an adolescent boy with primary intracranial sarcoma.

Eur J Paediatr Neurol 2019 Jul 4;23(4):662-667. Epub 2019 May 4.

Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany.

Acquired polyneuropathies (PN) are rare in childhood and adolescent. We report on a 15-year-old male patient who presented with progressive gait instability, ataxia, neuropathic pain, distal muscle weakness and progressive loss of ambulation. Nerve conduction studies (NCS) revealed a progressive demyelinating sensorimotor polyneuropathy predominantly of the lower limbs. Read More

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How Different is AMAN from AIDP in Childhood GBS? A Prospective Study from North India.

Indian J Pediatr 2019 04 12;86(4):329-334. Epub 2019 Jan 12.

Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Objectives: To compare the clinical profile and short-term outcome of children with axonal and demyelinating subtypes of childhood Guillain Barré syndrome (GBS).

Methods: This is a prospective observational study conducted in a tertiary care teaching hospital in North India. Consecutive children with Guillain Barré syndrome were recruited to compare the clinical profile and short term outcome among the subtypes. Read More

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t(3;8)(q26.2;q24) Often Leads to MECOM/MYC Rearrangement and Is Commonly Associated with Therapy-Related Myeloid Neoplasms and/or Disease Progression.

J Mol Diagn 2019 03 19;21(2):343-351. Epub 2018 Dec 19.

Department of Hematopathology, The University of Texas, MD Anderson Cancer Center, Houston, Texas.

t(3;8)(q26.2;q24) is a rare recurrent cytogenetic abnormality that is associated with myeloid neoplasms. Of 20 patients with t(3;8)(q26. Read More

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