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| http://dx.doi.org/10.4103/ijo.IJO_724_18 | DOI Listing |
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Bifid rib in bioarchaeological material on the example of new cases from Poland with literature review and proposal of classification.
Sci Rep
December 2024
Department of Anthropology, Faculty of Biology and Environmental Protection, University of Lodz, Banacha Str. 12/16, Łódź, 90-237, Poland.
Article Synopsis
- - The study examines the rare skeletal anomaly known as bifid rib, which appears in less than 1.5% of the population and faces challenges in identification due to postmortem damage and similarity to other conditions.
- - It presents five cases of rib bifurcation from four individuals across different populations in the Kujawy region of Poland, analyzed through morphological and paleoradiological methods.
- - The research also critiques existing evidence linking bifurcated ribs to naevoid basal cell carcinoma syndrome and proposes a new way to classify this anomaly in osteological studies.
Focal dermal hypoplasia (Goltz syndrome) with concurrent growth hormone deficiency and response to therapy.
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Endocrinology, Nizam's Institute of Medical Sciences, Hyderabad, India
A toddler presented with failure to thrive and dysmorphic features since birth. On examination, she was found to have a cleft lip, syndactyly, hypopigmented patchy skin lesions and patchy alopecia. The baseline haematological evaluation was normal.
View Article and Find Full Text PDF[POEMS syndrome mimicking CIDP].
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Exploration of the causative gene in a case of multiple nevoid basal cell carcinoma: A case report.
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Plastic Surgery, Affiliated Hospital of Qingdao University, Qingdao, China.
Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by a diverse clinical presentation, which includes developmental abnormalities and tumorigenesis that can impact multiple organ systems. Basal cell carcinoma is the most common and characteristic clinical presentation in patients with NBCCS. There are three identified causative genes for this disease, the PTCH1 gene located at 9q22-31, the PTCH2 gene at 1p32-34, and the SUFU gene at 10q24.
View Article and Find Full Text PDFArticle Synopsis
- Gorlin-Goltz syndrome (GGS) is an autosomal dominant genetic condition linked to an increased risk of multiple basal cell carcinomas (BCCs) and associated with mutations in the PTCH1 or SUFU genes, though diagnosis can occur without these markers.
- The main symptom of GGS is the development of multiple BCCs, which usually grow slowly and stay localized, but can sometimes be more aggressive in affected individuals.
- A recent case demonstrates that radiation therapy (RT), typically avoided due to the heightened risk of BCCs in GGS patients, can be effective and safe in treating an inoperable BCC that had metastasized, suggesting the need for personalized treatment approaches.
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