The authors report about observations they made in two sisters. One sister showed a fibroid degeneration of the cornea, the other a band-shaped keratopathy respectively, together with an ichthyosis and an alopecia as a result of capillary fractures due to pili torti. An autosomal recessive hereditary transmission could be determined. The cutaneous lesion is either an ichthyosis vulgaris, the hereditary transmission of which could not yet be confirmed, or it is a transition form of ichthyosis vulgaris and congenita.
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http://dx.doi.org/10.1007/BF00410468 | DOI Listing |
Clin Kidney J
January 2025
State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, Shandong, China.
Background: Hereditary nephropathy is an important cause of renal insufficiency and end-stage renal disease. Therefore, for couples with monogenic nephropathy, preventing transmission of the disease to offspring is urgent. Preimplantation genetic testing for monogenic disorders (PGT-M) is a means to prevent intergenerational inheritance by screening and transplanting normal embryos.
View Article and Find Full Text PDFCurr Opin Neurol
February 2025
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Purpose Of Review: Cerebral amyloid angiopathy (CAA) is a common brain disorder among the elderly and individuals with Alzheimer's disease, where accumulation of amyloid-ß can lead to intracerebral hemorrhage and dementia. This review discusses recent developments in understanding the pathophysiology and phenotypes of CAA.
Recent Findings: CAA has a long preclinical phase starting decades before symptoms emerge.
Mol Genet Genomics
December 2024
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450052, Henan, China.
Given the high morbidity, mortality, and hereditary risk of cardiovascular diseases (CVDs), their prevention and control have garnered widespread attention and remain central to clinical research. This study aims to assess the feasibility and necessity of haplotyping-based preimplantation genetic testing for the prevention of inherited CVD. A total of 15 preimplantation genetic testing for monogenic defect (PGT-M) cycles were performed in 12 CVD families from January 2016 to July 2022.
View Article and Find Full Text PDFVaccine X
January 2025
Department of Chemical-Pharmaceutical and Biomolecular Technologies, Faculty of Pharmacy, Catholic University "Our Lady of Good Counsel", Tirana, Albania.
Introduction: Human papillomavirus (HPV) infection is a widespread skin-to-skin transmitted infection that poses a global health concern. Although Albania faced prior challenges, it has recently introduced a quadrivalent recombinant HPV vaccine, a critical step in preventing cervical cancer among young women. This study aims to identify potential gaps in knowledge and attitudes among Albanian women regarding cervical cancer and HPV infection, as well as provide insights into the effectiveness of the national primary prevention program.
View Article and Find Full Text PDFAm J Chin Med
January 2025
Department of Neurology, The First Affiliated, Hospital of Anhui University of Traditional Chinese Medicine, Hefei, P. R. China.
Wilson's disease (WD) is a hereditary condition marked by abnormalities in copper metabolism, which precipitate a spectrum of neurological symptoms and cognitive impairments. Emerging research has highlighted ferroptosis (FPT) as a distinct type of programmed cell death, potentially linked to various cognitive dysfunctions. Nevertheless, the connection between FPT and cognitive impairment in Wilson's disease (WDCI) remains largely enigmatic.
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