Title: Outcome of PML-RARα Short Isoform and FLT3-ITD in a Patient with Several Adverse Prognostic Markers: a Case ReportMohammed A Bafail1, Rahaf AlTahan1Manar A Samman1, Suha A Tashkandi1, Ibraheem H Motabi2 , Abdul Ali Peer-Zada1*

Leukemic retinopathy is a severe complication of severe leukocytosis that results from untreated chronic myelogenous leukemia (CML). Immediate cytoreduction via leukapheresis may reverse ocular manifestations and prevent permanent vision damage. We present a case of a patient with acute unilateral vision loss found to have leukemic retinopathy in the setting of

A document by Reynaldo Jr. Balintona. Click on the document to view its contents.

Newborn with amniotic band sequenceAbstract: Amniotic band sequence (ABS) is an uncommon congenital disorder where strands of amniotic tissue cause entrapment of the limbs, body wall, and viscera leading to an array of congenital malformations. We report a case of a newborn with prenatally undiagnosed amniotic band sequence.Keywords: amniotic band sequence, amniotic band syndrome

A document by Joshua Levine. Click on the document to view its contents.

Manuscript:

Late Small Bowel Perforation from a Migrated Double Plastic Biliary Stent: A Case Report and a Review of Literature of 85 Cases from 2000 to 2022

Esophageal fistula involving the thoracic aorta is a rare event. Mycotic aneurysm may complicate this condition: A case reportShokrollah Hafezeftekhari 1, Farzaneh Khoroushi 1, Hossein Bozorgi 11Department of Radiology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranCorrespondence: Hossein Bozorgi, Department of Radiology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranEmail: [email protected]: 09906136895Shokrollah Hafezeftekhari – MD – Radiology ResidentAffiliation: Department of Radiology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Email Address: [email protected] Khoroushi – MD – Assistant Professor of RadiologyAffiliation: Department of Radiology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Email Address: [email protected] Bozorgi – MD – Radiology ResidentAffiliation: Department of Radiology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Email Address: [email protected]

INTRODUCTIONSchizencephaly is an uncommon anomaly of the brain characterized by abnormal gray matter lined clefts extending from the ependymal surface of the ventricle to the subarachnoid space. There are two distinct subtypes. Cleft with fused lips is a type 1 or closed type whereas unopposed lips allowing communication of the cleft to the ipsilateral ventricle is an open type.[1] Although the exact cause of this disorder is uncertain, diverse theories have been put forward to establish a definite underlying etiology. A defect in neuronal migration[2] or some form of molecular genetic abnormalities such as mutation in EMX2 [1], SHH and SIX 3 gene [3] , intrauterine infections[4] are few of the probable causes advocated in literature. MRI is the best suited imaging modality for diagnostic evaluations owing to its superiority in gray and white matter distinction, and hence distinguishing the entity from porencephaly or any other post infectious, postoperative or post necrotic lesions.[2][5]

A document by Tatsuya Horibe. Click on the document to view its contents.

Heterotaxy pattern associated with Sinus Node Dysfunction in an adult: A case report.Authors : Naman Shah MBBS1, Sankalp Acharya2, Apoorva Tripathi MBBS2, Himanshi Bisht MBBS2,Maitri Shah MBBS1, Aayushi Pareek MBBS3, Asmit Gera MBBS4, Abhigan Babu Shrestha, MBBS5, Vikash Jaiswal MD61. GMERS Medical college Sola, Ahmedabad, India2. B. J. Medical College, Ahmedabad, India3. RHUS College of Medical Science, Jaipur, Rajasthan4. JCCR Cardiology Research, Varanasi, India5. M Abdur Rahim Medical College, Dinajpur, Bangladesh6. AMA School of Medicine, Makati, Philippines

INTRODUCTIONMerkel Cell Carcinoma (MCC) is a rare, life-threatening tumor with neuroendocrine features. Due of its extremely low occurrence worldwide, epidemiological data on the disease is limited. (1). Commonly recognized risk factors include fair skin, history of skin cancer, old age, chronic immunosuppression, chronic ultraviolet (UV) light exposure, and Merkel cell polyomavirus (MCPyV) infection (2). Amongst these factors, MCPyV and UV exposure play a fundamental role with synergistic effects in the pathophysiology of MCC (3). Despite being a part of normal skin flora in most individuals, MCPyV DNA can clonally combine with the genome of neoplastic cell precursors at the initial phases of carcinogenesis (4, 5). Concurrently, UV exposure elicits antigen-presenting dendritic cells to produce inflammatory cytokines, leading to local immunosuppression and creating an ideal environment for tumoral growth (6). Moreover, immune hypersensitivity from UV exposure facilitates the viral tumorigenic process (2).Merkel cells cannot be derived from the MCC because they lack the ability to proliferate. Merkel cell precursors (perhaps generated from epidermal stem cells or hair follicle stem cells) and pre- and pro-B cells appear to have histopathology, genetics, and molecular characteristics with malignant cells instead (7).MCC often presents as a single, asymptomatic erythematous or violaceous nodule, often mistaken for cysts or abscesses. It usually originates from the head or neck and generally spares the extremities (8). Immunohistochemical (IHC) staining is required to validate histopathological findings of small round cells that infiltrate cutaneous or subcutaneous area. (7). Although MCC responds to the combination of excisional surgery, radiotherapy, and chemotherapy, it requires continuous follow-ups within the first year of diagnosis due to the high recurrence rate (9).Here, we present a 32-year-old Iranian (non-Caucasian) immunocompetent female with a small nodule on her left arm at the disease onset finally diagnosed as MCC. In this report, we aim to emphasize the significance of early diagnosis and management of this cancer and highlight the complications that a late diagnosis would entail for these patients.

TITLE: UMBILICAL CORD HEMANGIOMA AND PSEUDOCYST WITH FAVORABLE FETAL OUTCOME

IntroductionLangerhans cell histiocytosis (LCH) is a rare hematological disorder characterized by intense and abnormal proliferation of bone marrow-derived immature myeloid dendritic cells; Langerhans cells (LCs) in the skin, bone, lymph nodes, and other organs.1Although, due to its low occurrence, limited information on the epidemiology of LCH is available, an estimated 5 to 9 cases per million in children < 15 years of age, and 1 case per million in patients > 15 years of age have been reported.2Depending on the different clinical manifestations, LCH had been classified conventionally by the International Histiocyte Society into three different types: Type I - Eosinophilic granuloma (chronic focal LCH), Type II - Hand-Schüller-Christian disease (chronic disseminated LCH) and Type III - Letterer-Siwe disease (acute disseminated LCH).3 However, because clinical findings are widely manifested, the disease has also been classified into unifocal and multifocal forms; depending on the extent of its spread throughout the body. The unifocal form presents only one destructive lesion in an organ, affecting bones or skin (80% of cases), liver, spleen, brain, and lymph nodes more frequently3 The disease manifests itself in a variety of ways, from isolated disease that resolves on its own to life-threatening multisystem disease, with a 20% mortality rate.4The involvement of head and neck region is quite common in LCH, particularly the bones of skull and jaws. The oral soft tissue lesions are also common and are mostly seen on the hard palate and gingiva. Since the symptoms of LCH may first appear in the oral cavity before occurring elsewhere in the body, a thorough knowledge of the clinical presentation of the disease is important.1Awareness among clinicians regarding the clinical, histological, and immune-histopathological features of the disease will help in early diagnosis and treatment for better prognosis. Thus, this report aims to present a case of Langerhans cell histiocytosis with the oral and dermal manifestations seen in a pediatric patient.

IntroductionTuberculosis (TB) is one of the most common global health burdens caused by Mycobacterium Tuberculosis.1 Almost half of the TB cases remain unreported, contributing to the underdiagnosis of extrapulmonary tuberculosis.2 The worldwide incidence of disseminated TB is also in increasing trend. Central nervous system (CNS) involvement is one of the most devastating complications of tuberculosis and is seen in 10% of all disseminated TB cases, accounting for 1% of all TB cases.3 CNS involvement may present as meningitis, cerebral tuberculoma, tuberculoma abscess, and thoracic transverse myelopathy.1,4The predominant symptoms of disseminated TB are fever, cough, malaise, loss of appetite, weakness, and weight loss. In addition, symptoms according to system involvement are often seen, like a headache in the case of meningeal tuberculosis and abdominal pain in peritoneal or intestinal tuberculosis.5Although the treatment of disseminated and pulmonary TB are considered the same, CNS involvement warrants a longer duration of treatment. The four-drug regimen of rifampicin, isoniazid, pyrazinamide, and ethambutol is administered daily for two months, followed by rifampicin and isoniazid for two months. In disseminated cases, these two drug regimens can be extended. There is no clear evidence of the effectiveness of corticosteroids in disseminated TB cases. However, steroids are often used in disseminated cases. 6 Early identification and prompt management are the cornerstones for optimal patient management in disseminated TB with CNS involvement.We reported this case following the updated consensus-based Surgical Case Report (SCARE) Guidelines. 7

COVID-19 infection and Leser-Trelat sign: is there an association?Farhad Handjaniab, Roya Radanfarab, Mozhdeh Sepaskhahab*, Niloofar Dehdari EbrahimicaMolecular Dermatology Research Center, Shiraz University of Medical Sciences, Shiraz, IranbDepartment of Dermatology, Shiraz University of Medical Sciences, Shiraz, IrancStudent Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran*corresponding author

Recurrent facial Microcystic adnexal carcinoma and hair transplantation on scar site

Abstract Objective The objective of this study was to characterize the clinical features, developmental milestones, and the natural history of Pelizaeus Merzbacher disease (PMD) associated with PLP1 gene duplications. Methods The study examined 16 PMD Patients ranging in age from 7 to 48, who had a documented PLP1 gene duplication. The