A document by Jose Marino. Click on the document to view its contents.

Anti-GD1b disorder presenting as multiple mononeuropathies.Kamar Eid MD, Rim Araoui MD, Ragheb Ismail BSN, Raja Sawaya MDDepartment of Neurology, American University of Beirut Medical Center, Beirut, Lebanon.Correspondence to:Raja A. Sawaya, MDProfessor of NeurologyDirector of Clinical Neurophysiology LaboratoryDirector of Neuromuscular Fellowship ProgramDepartment of NeurologyAmerican University Medical CenterPOB: 113 – 6044 / C-27Beirut, Lebanon.Tel: 961-1-350000Email: rs01@aub.edu.lbNumber of words: 882 words.Kew words: Opthalmoplegia, sensory neuropathy, mononeuropathy, anti-gangliosides, anti-GD1b.The patient signed a written consent agreeing to publish his case in the medical literature.

Combined Treatment of Myofascial Pain Syndrome by Bilateral Coronoidectomy and Botulinum Toxin Injection

A document by Jean Michel Hovsepian. Click on the document to view its contents.

INTRODUCTIONHereditary thrombotic thrombocytopenic purpura (TTP) is a rare autosomal recessive inherited disease involving the ADMATS13 gene. Common causes of TTP include infection, inflammation or pregnancy. However, hereditary TTP occurs mostly in children and pregnant women, accounting for only 5% of all total cases of TTP.1Homozygous or double heterozygous mutations of theADAMTS13 gene, result in plasma ADAMTS13 activity absence or severe deficiency. ADAMTS13 is located on chromatin 9q34, contains 29 exons, and encodes a 1427 amino acid multidomain protein.2 The most common types of types of mutations are nonsense , followed by missense, frameshift insertions, or deletions, which can be distributed throughout the gene.3Reduced or absent ADAMTS13 activity in the plasma results in the failure of timely degradation of abnormally released von Willebrand factor (VWF) multimers, which can spontaneously bind to platelets, leading to microvascular thrombosis and subsequent organ dysfunction.4,5 Most Hereditary TTP cases are diagnosed during childhood or early adolescence after the first acute episode. Here, we present a case of hereditary TTP in a 30 year old female, which resulted from a compound heterozygous mutation of ADAMTS13 c.1045C > T (p.Arg349Cys) and c.2411G > A(p.Cys 804Tyr).

Background: renal cystic disease encompasses a complex group of pathologic and clinical entities, with varied but distinctive features. Unilateral renal agenesis is defined as the complete absence of one kidney and the ipsilateral ureter in the typical lumbar location, the renal loggia. In the case of prenatal diagnosis of foetal kidney

Mpox with digestive manifestations in a 16-year-old adolescent girl; A case report

A document by bahareh Abtahi-naeini. Click on the document to view its contents.

DR JULIA O'MAHONY ORCID 0009-0004-0458-934X DR CATHAL O'CONNOR ORCID 0000-0001-7084-5293 Case Report

Pilomatricoma in the Infraorbital Region

A document by Weimin Ma. Click on the document to view its contents.

Title:  Case Report of a Giant Mediastinal Neurofibroma Misdiagnosed as Massive Pleural EffusionAuthors:  1. Hongqiang Chen1;2. DanYi Lin1 ;3. Zhizhong Zhou1*1 Fuzhou First General Hospital Affiliated to Fujian Medical University Fuzhou, CN 350000Corresponding Author:*Email: nb892366303@163.com ; Tel: +86-13959183699Conflict of Interest:  None declared.Funding:  NoAuthor Contributions: HC: wrote the manuscript, created the Figure, wrote the manuscript and treated the patient. ZZ: treated the patient, discussed the diagnosis and provided clinical comments. DL: wrote the manuscript and treated the patientEthics Statement: The requirement for informed consent was waived by the Ethics Committee due to the retrospective and anonymized nature of the data. But the written consent of the patient has been obtained before submitting the article, and the written and reserved consent is signed as requiredCase Report of a Giant Mediastinal Neurofibroma Misdiagnosed as Massive Pleural EffusionKey clinical message:  For thoracic hypodense lesions, ultrasound and contrast-enhanced CT differentiate tumors from effusions. Giant mediastinal tumors require preoperative vascular localization, optimal surgical access, and gradual decompression to prevent re-expansion complications.Keywords: Mediastinum; Nervous system neoplasms; Thoracic surgery; Video-assisted

A document by Jiangmin Wan. Click on the document to view its contents.

IntroductionPerivascular epithelioid cell tumor (PEComa) is a rare mesenchymal-derived tumor composed of perivascular epithelioid cells (PECs) with a distinctive morphology and immunophenotype, first proposed by Bonetti [1], which is a family of tumors encompassing a variety of subtypes including angiomyolipomatous smooth muscle lipomas (AMLs), lymphatic smooth muscle myelomatosis (LAMs), clear cell ”sugar” tumors (CCST), clear cell myeloma (CCMMT), and non-specific types of PEComa (PEComa-NOS), among others[2]; their common features are that morphologically the tumor cells are epithelioid or spindle shaped, with abundant, translucent, or eosinophilic cytoplasm, and conspicuous nucleoli, often radially arranged around blood vessels, and in immunohistochemistry, melanocyte and smooth muscle markers, including HMB-45, Melan-A, SMA, desmin, are usually expressed, and some of them may express Cathepsin K[3].Common sites of PEComa include the uterus, skin, and liver, and so on. PEComa originating in the bone is extremely rare, with only a few cases or small-sample studies reported in the literature, and its diagnosis and treatment relies on comprehensive multidisciplinary evaluation. In this paper, we report a case of an elderly patient with PEComa originating in the femur with postoperative supplemental radiation therapy，aiming to provide a reference for the clinical diagnosis and treatment of PEComa in rare sites.

A document by Hidetoshi Satomi. Click on the document to view its contents.

An isolated primary ALK-positive anaplastic large T-cell lymphoma (ALCL) of the axilla mimicking an inflammatory breast cancer.

Case Report of IgG4-Related Autoimmune PancreatitisRui Yu1, Shiyu Zhang2, Yanping Zhao2, Jingdong Xiao1*, Chuijie Wang1, Yufeng Li1, Ziting Mo2, Xihan Zhu11Affiliated Hospital of Liaoning University of Traditional Chinese Medicine, Beiling Street 33, Shenyang 110032, China2Liaoning University of Traditional Chinese Medicine, Chongshan East Road 79, Shenyang 110847, ChinaCorresponding author: Jingdong Xiao, xiaojd@126.com

A document by Minoosh Shabani Barzegar. Click on the document to view its contents.