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About 47,963 results

Langerhans cell histiocytosis misdiagnosed as cow protein allergy: a case report.
https://doi.org/10.1186/s12887-021-02921-8 10.1097/MD.0000000000014531 10.1097/PAS.0b013e31820654e4 10.1002/pbc.22663 10.1097/MPH.0000000000001428 10.1111/jgh.14598 10.1111/pde.14389 10.4084/mjhid.2019.035
BMC Pediatrics; Lv X, Wang L et. al.

Oct 24th, 2021 - Langerhans cell histiocytosis (LCH) is a heterogeneous disease with diverse clinical manifestations. Abdominal organ involvement is rare. Early diagnosis and active treatment are needed. The purpose of this article is to enable readers to have a better knowledge of LCH and prevent misdiagnosis. A 2-month-old boy had diarrhea, hematochezia, and a rash, and was diagnosed as having a cow milk prot...

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY CAUSES FATTY LIVER DISEASE AND REQUIRES LONG-TER...
https://doi.org/10.1002/jimd.12452
Journal of Inherited Metabolic Disease; Gorce M, Lebigot E et. al.

Oct 24th, 2021 - Liver disease, occurring during pediatric or adult age, is often of undetermined cause. Some cases are probably related to undiagnosed inherited metabolic disorders. Hepatic disorders associated with fructose-1,6-bisphosphatase deficiency, a gluconeogenesis defect, are not reported in the literature. These symptoms are mainly described during acute crises, and many reports don't mention them be...

The triumvirate of NF-κB, inflammation and cytokine storm in COVID-19.
https://doi.org/10.1016/j.intimp.2021.108255
International Immunopharmacology; Attiq A, Yao LJ et. al.

Oct 24th, 2021 - The coronavirus disease (COVID-19) has once again reminded us of the significance of host immune response and consequential havocs of the immune dysregulation. The severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) inflicts severe complications to the infected host, including cough, dyspnoea, fever, septic shock, acute respiratory distress syndrome (ARDs), and multiple organ failure. ...

Ophthalmic findings of Mycoplasma-induced rash and mucositis (MIRM) distinct from Steve...
https://doi.org/10.1016/j.jaapos.2021.06.003
Journal of AAPOS : the Official Publication of the Americ... Khalili A, Ackerman IM et. al.

Oct 24th, 2021 - To identify ophthalmic manifestations of Mycoplasma-induced rash and mucositis (MIRM). The medical records of patients with MIRM treated by the inpatient ophthalmology consult service at a single institution over a period of 4 years were reviewed retrospectively. Eye and skin findings, treatment, hospital course, and follow-up findings were documented and reviewed. MIRM was identified in 10 pat...

Bing-Neel Syndrome: Update on the Diagnosis and Treatment.
https://doi.org/10.1016/j.clml.2021.09.014
Clinical Lymphoma, Myeloma & Leukemia; Nanah A, Al Hadidi S

Oct 23rd, 2021 - Bing-Neel syndrome (BNS) is a rare syndrome that occurs in patients with Waldenstrom macroglobulinemia and is characterized by lymphoplasmacytic infiltration into the leptomeningeal tissue and/or the central nervous system. It represents an extramedullary manifestation which may translate into various neurological symptoms. Accurate diagnosis of BNS can be established via histologic sampling an...

Immunoglobulin A nephropathy in pediatrics: an up-to-date.
https://doi.org/10.1111/nep.13987
Nephrology (Carlton, Vic.); Paranhos RM, de Souza Figueiredo GA et. al.

Oct 23rd, 2021 - Immunoglobulin A nephropathy is the main cause of glomerulonephritis globally and an important etiology of end-stage renal disease in children. It has been considered an autoimmune disease that can lead to the production of autoantibodies against abnormal IgA1 and formation of immune complexes. These autoantibodies and immune complexes deposit in the glomeruli, resulting in renal injury. At the...

Association between toxic organochlorine levels in human serum and systemic lupus eryth...
https://doi.org/10.1177/09612033211051947
Lupus Helmy MA, Saad-Hussein A et. al.

Oct 23rd, 2021 - Organochlorines (OCs) are groups of highly toxic pesticides with known immunotoxicity. The present work aimed to study the potential association between serum residues of OCs and the risk of developing systemic lupus erythematosus (SLE) as well as correlating to the clinical-laboratory manifestations in a sample of Egyptian SLE patients. A cross-sectional study was conducted on 132 patients env...

Spinal Manifestation of Malignant Primary (PLB) and Secondary Bone Lymphoma (SLB).
https://doi.org/10.3390/curroncol28050332
Current Oncology (Toronto, Ont.); Barz M, Aftahy K et. al.

Oct 23rd, 2021 - Manifestation of malignant lymphoma in the spine is rare; there have only been a few cases reported in the literature. Due to its rarity, there is no gold standard for the management of patients suffering from spinal lymphoma manifestations. Methods: We retrospectively reviewed the data for 37 patients (14 female, 23 male) with malignant lymphoma in the spine receiving intervention in our cente...

Pamidronate Therapy Increases Trabecular Bone Complexity of Mandibular Condyles in Indi...
https://doi.org/10.1007/s00223-021-00915-3 10.1016/S0140-6736(04)16051-0 10.1007/s00198-016-3723-3 10.1038/nrdp.2017.52 10.1016/S0140-6736(15)00728-X 10.1016/S0140-6736(78)90763-8 10.1002/ajmg.a.37365 10.1002/ajmg.a.61366 10.1002/ajmg.a.36545 10.1016/0030-4220(84)90206-8 10.1111/j.1600-0714.1994.tb00082.x 10.1177/0022034514529150 10.1007/s00223-020-00707-1 10.1038/bdjopen.2017.21 10.1186/s12903-018-0497-3 10.1179/crn.2007.022 10.1016/S8756-3282(00)00269-6 10.1172/JCI0215952 10.1016/j.bone.2006.10.010 10.1002/jbmr.2567 10.1590/1678-4685-gmb-2018-0097 10.1177/0022034514567334 10.1259/dmfr.20150400 10.1016/j.oooo.2019.07.001 10.2147/DDDT.S141075 10.1111/odi.12950 10.1016/j.oooo.2019.12.009 10.1016/j.oooo.2019.03.002 10.1007/s11282-019-00388-z 10.1007/s10278-011-9383-0 10.5455/aim.2019.27.167-170 10.1038/sj.dmfr.4600630 10.14219/jada.archive.1996.0134 10.1016/j.oooo.2016.11.005 10.1016/j.maturitas.2013.10.011 10.1016/S1079-2104(99)70097-1 10.1097/01.prs.0000169940.69315.9c 10.1007/s00330-010-1828-1 10.1016/j.coms.2017.09.002 10.1007/s00223-021-00835-2 10.1007/s00784-012-0882-2 10.1016/S8756-3282(00)00353-7 10.4172/2161-1122.1000154 10.1002/14651858.CD005088.pub4 10.1016/j.nut.2011.04.003
Calcified Tissue International; Pantoja LLQ, Lustosa M et. al.

Oct 23rd, 2021 - Patients with Osteogenesis Imperfecta (OI) present extra-skeletal manifestations, including important orodental and craniofacial features as dentinogenesis imperfecta, dental agenesis, failure of maxilla growth and hypotonia of masticatory muscles. These features may compromise vital functions speech and mastication. Studies have demonstrated that cyclic pamidronate infusion, the standard thera...

Parkinsonism and cerebrospinal fluid disorders.
https://doi.org/10.1016/j.jns.2021.120019
Journal of the Neurological Sciences; Youn J, Todisco M et. al.

Oct 23rd, 2021 - Although various motor manifestations can be seen in patients with cerebrospinal fluid (CSF) disorders, such as hydrocephalus or intracranial hypotension, the clinical presentation with parkinsonism is not clearly elucidated. We searched the literature for studies describing the occurrence of parkinsonism in subjects with normal pressure hydrocephalus (NPH), obstructive hydrocephalus, and intra...

Cystic fibrosis-related liver disease: clinical presentations, diagnostic and monitorin...
https://doi.org/10.1016/j.jhep.2021.09.042
Journal of Hepatology; Dana J, Debray D et. al.

Oct 23rd, 2021 - Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population. Cystic Fibrosis-related Liver Disease (CFLD) is defined by the pathogenesis related to the underlying CFTR defect in biliary epithelial cells. CFLD needs to be distinguished from other liver manifestations that may not have any pathological significance. The clinical and histological presentation as...

Different manifestations of paracoccidioidomycosis: case reports.
https://www.ncbi.nlm.nih.gov/pubmed/34678747
General Dentistry; Felipe BC, Bachesk AB et. al.

Oct 23rd, 2021 - Paracoccidioidomycosis is an infectious disease caused by Paracoccidioides brasiliensis and is endemic in South America. A patient can be infected via fungus inhalation in the mycelium phase. Oral manifestations of paracoccidioidomycosis are often the first clinical sign of disease, but their appearance can vary. As a result, many clinicians are unable to identify this infection early. Late dia...

Schistosoma haematobium infection with pulmonary involvement in a traveller returning f...
https://doi.org/10.1016/j.tmaid.2021.102182
Travel Medicine and Infectious Disease; Mortier C, Aubry C et. al.

Oct 23rd, 2021 - Schistosomiasis is highly prevalent in sub-Saharan Africa and diagnosis is difficult for travel medicine practitioners, because it can affect different organs with atypical manifestations. S. haematobium is mostly associated with urinary involvement and rarely with pulmonary lesions. This review aims to summarise the pulmonary forms associated with schistosomiasis, especially with S. haematobiu...

Regression of thymoma-induced lichenoid hypersensitivity reactions of the oral mucosa f...
https://www.ncbi.nlm.nih.gov/pubmed/34678738
General Dentistry; Fantozzi PJ, D'Alessandro L et. al.

Oct 23rd, 2021 - Thymomas are neoplasms associated with paraneoplastic disorders. Severe hypersensitivity reactions involving the oral cavity may be the first sign of an undiagnosed thymoma. Oral manifestations of an underlying thymoma may present as recurrent severe painful lesions with associated significant morbidity, often not responding to standard therapeutic measures. This case report describes the treat...

Agrypnia excitata as the main feature in anti-LGI1 encephalitis: a detailed clinical an...
https://doi.org/10.1111/ene.15152
European Journal of Neurology; Piffer S, Cantalupo G et. al.

Oct 23rd, 2021 - The core manifestations of leucine-rich-glioma-inactivated-1 (LGI1) autoantibody-mediated encephalitis are limbic encephalitis and faciobrachial dystonic seizures (FBDSs). Agrypnia excitata (AE) is a rare syndrome characterized by sleep-wake cycle disruption, autonomic hyperactivation, and episodes of oneiric stupor (OS). Only a few diseases are known to present with AE. An autoimmune etiology ...

A Study to Investigate the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder
https://clinicaltrials.gov/ct2/show/NCT05064878

Oct 22nd, 2021 - This is a 2-part multicenter trial. Part 1 is a 20-week randomized, double-blind, placebo-controlled, fixed-dose, parallel-group study to examine the efficacy and safety of ZX008 as an adjunctive therapy (to existing concomitant treatment with antiepileptic treatments [AETs]) in children and adults with a CDD diagnosis and uncontrolled seizures. Part 1 of the study is 20 weeks in duration and w...

A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Subjects With VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
https://clinicaltrials.gov/ct2/show/NCT05027945

Oct 22nd, 2021 - Background: In 2019, investigators at the National Institutes of Health defined a new disease syndrome named VEXAS: Vacuoles in bone marrow cells, E1 enzyme mutations, X-linked, Autoinflammatory, Somatic syndrome. This syndrome is characterized by inflammatory and hematologic features and is frequently accompanied by marrow dysplasia, progressive bone marrow failure, and in some cases, the deve...

Efficacy and Safety of Intrathecal OAV101 (AVXS-101) in Pediatric Patients With Type 2 Spinal Muscular Atrophy (SMA)
https://clinicaltrials.gov/ct2/show/NCT05089656

Oct 22nd, 2021 - This is a multi-center, randomized, sham-controlled, double-blind study to investigate the safety, tolerability, and efficacy of IT OAV101 in SMA participants, sitting and never ambulatory. The study will enroll treatment naive Type 2 SMA participants who are ≥ 2 years to < 18 years who harbor biallelic SMN1 pathogenic variants in SMN1 and 2-4 copies of SMN2. The study consists of a Screening a...

Causes and Natural History of Dyslipidemias
https://clinicaltrials.gov/ct2/show/NCT00353782

Oct 22nd, 2021 - The lipoprotein transport system is vital to the delivery of the hydrophobic fats that are carried in the aqueous environment of the blood. The lipoprotein particles that comprise this system are polydisperse and contain triglycerides, free and esterified cholesterol, phospholipids and proteins. Inborn errors in the lipoprotein transport system lead to alterations in both the steady state conce...

Study of Families With Twins or Siblings Discordant for Rheumatic Disorders
https://clinicaltrials.gov/ct2/show/NCT00055055

Oct 22nd, 2021 - Most autoimmune diseases are thought to develop as a result of chronic immune activation and dysregulation after selected environmental exposures in genetically susceptible individuals. Current evidence suggests that the adult and juvenile forms of systemic rheumatic disorders -- defined here as rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and idiopat...