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MmuPV1 infection of Tmc6/Ever1 or Tmc8/Ever2 deficient FVB mice as a model of βHPV in typical epidermodysplasia verruciformis.
PLoS Pathog
January 2025
Department of Pathology, Johns Hopkins University, Baltimore, Maryland, United States of America.
Typical epidermodysplasia verruciformis (EV) is a rare, autosomal recessive disorder characterized by an unusual susceptibility to infection with specific skin-trophic types of human papillomavirus, principally betapapillomaviruses, and a propensity for developing malignant skin tumors in sun exposed regions. Its etiology reflects biallelic loss-of-function mutations in TMC6 (EVER1), TMC8 (EVER2) or CIB1. A TMC6-TMC8-CIB1 protein complex in the endoplasmic reticulum is hypothesized to be a restriction factor in keratinocytes for βHPV infection.
View Article and Find Full Text PDFFunctional dyspepsia (FD) is a gut-brain axis disorder characterized by postprandial fullness, early satiety, bloating and/or epigastric pain, which are presumed to originate in the gastroduodenal tract. While the international recommendations in the Rome IV consensus require endoscopy to rule out an organic condition before establishing a diagnosis of FD, international guidelines recommend that, in the absence of risk factors, patient management be initiated at the primary care level by establishing Helicobacter pylori infection status, with eradication when positive, followed by empiric therapy with proton pump inhibitors and/or prokinetics, and that endoscopy be reserved for patients refractory to said measures. Second-line therapy includes neuromodulating agents, among which tricyclic antidepressants and atypical antipsychotics such as levosulpiride stand out.
View Article and Find Full Text PDFDiffuse Large B-Cell Lymphoma Presenting Primarily as a Cutaneous Leg Lesion: A Case Report and Literature Review.
Cureus
December 2024
Hematology and Medical Oncology, East Carolina University (ECU) Health Medical Center/Brody School of Medicine, Greenville, USA.
Primary cutaneous B-cell lymphoma (PCBCL) has three subtypes, among those, the leg type variant is the rarest with the highest rates of relapse and recurrence making it an intriguing focus for researchers. Nevertheless, prior to framing a diagnosis solely based on the lesion's location, it is prudent to reconsider whether it is genuinely a primary cutaneous B-cell lymphoma (PCBCL) or if it aligns more closely with the more prevalent lymphoma variants such as diffuse large B-cell lymphoma (DLBCL) with cutaneous involvement. We are reporting a case of an 85-year-old African American lady, who presented with unilateral left leg DLBCL with cutaneous involvement.
View Article and Find Full Text PDF-Linked Parkinson Syndrome in Female Heterozygotes Is Associated With PET-Detectable Tau Pathology.
Neurol Genet
February 2025
Memory Center, Keio University School of Medicine, Tokyo, Japan.
Background And Objectives: A previous postmortem study of men with Christianson syndrome, a disorder caused by loss-of-function mutations in the gene , reported a mechanistic link between pathologic tau accumulation and progressive symptoms such as cerebellar atrophy and cognitive decline. This study aimed to characterize the relationships between neuropathologic manifestations and tau accumulation in heterozygous women with mutation.
Methods: We conducted a multimodal neuroimaging and plasma biomarker study on 3 middle-aged heterozygous women with mutations (proband 1: mid-50s; proband 2: early 50s; proband 3: mid-40s) presenting with progressive extrapyramidal symptoms.
Uncommon retroperitoneal mass in a young adult: A rare case report of retroperitoneal schwannoma and review of diagnostic challenges.
Int J Surg Case Rep
January 2025
General Surgery Department, Center for Traumatology and Major Burns, 1st of May Street, El Iskan City, 2013, Ben Arous, Tunisia; Faculty of Medicine of Tunis. 15, Djebel Lakhdhar Street, 1007 Bab Saadoun, Tunis, Tunisia.
Introduction And Importance: Retroperitoneal schwannomas are extremely rare, benign tumors originating from Schwann cells in peripheral nerve sheaths, with few reported cases. Their deep location and nonspecific symptoms make preoperative diagnosis challenging, often requiring imaging and surgical resection for confirmation. This case highlights an uncommon presentation of retroperitoneal schwannoma in a young patient, emphasizing its rarity.
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