Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12820DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11670272PMC

Publication Analysis

Top Keywords

uncommon case
4
case mitochondrial
4
mitochondrial disease
4
disease mild
4
mild amyotrophy
4
amyotrophy legs
4
legs symmetrical
4
symmetrical lipomatosis
4
lipomatosis arms
4
uncommon
1

Similar Publications

Background: δβ-thalassemia/HPFH is an uncommon hemoglobinopathy characterized by decreased or the total absence of production of δ- and β-globin and increased HbF levels. Both these disorders have variable genotype and phenotype, but significant overlap in the clinical and laboratory findings. Given the lack of literature in this regard, the study aimed to estimate the prevalence of the disease and evaluate its clinical, hematological, and molecular profile in India.

View Article and Find Full Text PDF

Internal Ophthalmoplegic Migraine During Pregnancy: A Clinical Case.

Neurol Int

December 2024

Universidad Simón Bolívar, Facultad de Ciencias de la Salud, Barranquilla 080001, Atlántico, Colombia.

Background: Ophthalmoplegic migraine (OM) is an uncommon variant of migraine characterised by headache and cranial nerve palsy, posing significant diagnostic and therapeutic challenges.

Objective: This study aimed to describe an extremely rare OM variant with a partial therapeutic response.

Clinical Case: A 34-year-old pregnant woman in gestational week 19.

View Article and Find Full Text PDF

Uncommon Nasal Mass Presentation: A Radiological Case Series.

J Pers Med

December 2024

Radiological Sciences Section, Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, AOUP "Paolo Giaccone", Via del Vespro 129, 90127 Palermo, Italy.

Nasal and paranasal sinus masses can arise from a wide range of conditions, both benign and malignant, as well as congenital or acquired. Diagnosing these masses is often challenging, requiring a combination of nasal endoscopy, imaging studies, and histopathological analysis. Initial imaging frequently involves computed tomography or cone beam computed tomography (CBCT) to evaluate the bony anatomy of the nasal cavity and surrounding sinuses, while magnetic resonance imaging (MRI) is typically used for detailed assessment of soft tissues and to aid in differential diagnosis when the findings are inconclusive.

View Article and Find Full Text PDF

Deep or aggressive angiomyxoma is an uncommon neoplasm of the pelvis. Although deep angiomyxoma is a benign tumor, its tendency to infiltrate soft tissues and reach a large size (typically > 10 cm) indicates aggressive biological behavior. It is usually present in female patients, but there have been recent reports of male-aggressive angiomyxoma.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!