Search results for "pig"
showing 10 items of 2235 documents
Morphologic diagnosis in neuronal ceroid lipofuscinosis.
1997
Morphologic pathology in NCL is marked by two processes, the interaction of which has not yet been completely clarified: 1) degeneration of nerve cells, foremost in the cerebral cortex, resulting in considerable cerebral atrophy in early childhood forms, likely responsible for clinical and neuroradiological findings; 2) widespread accumulation of autofluorescent lysosomal lipopigments of varying ultrastructure, the demonstration of which is still largely responsible for diagnostic recognition of an individual patient's NCL. Numerous tissues and organs are available for biopsy, among them brain (historical), rectum (still favoured by some), skeletal muscle and peripheral nerves (largely by c…
Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon.
1987
Inquiries to Manuel Diaz Llopis, M.D., Cl Cirilo Amoros No. 1 PTA 2, Valencia 46004, Spain. Familial polyposis of the colon is a dominant autosomal disorder that is characterized by hundreds and sometimes thousands of adenomatous polyps throughout the entire colon, which begin in adolescence. Virtually all pa tients with familial polyposis develop carcino ma of the colon by age 50 years. A total colectomy should be carried out early in adult life in affected persons. Because of the autosomal dominant inheritance pattern, an intensive sur vey of family members must be conducted. There is no phenotype biochemical abnormality or serologic marker that indicates whether a familial member will…
Ultrastructure of the Retina in Adult Neuronal Ceroid Lipofuscinosis
1998
A 33-year-old woman died of biopsy-proven adult neuronal ceroid lipofuscinosis (NCL) or Kufs’ disease marked by fingerprint and curvilinear lipopigments in neural and nonneural cell types. She had never experienced visual impairment or shown electroretinographic abnormalities. At autopsy, her retina appeared intact without degeneration at the light-microscopic level, but nerve cells in different layers were loaded with lipopigments of the granular type. This appears to be the third ultrastructural study of the retina in a patient with adult NCL, a former one showing preservation of the retina, another retinal degeneration. Thus, only further molecular genetic data will clarify the nosology …
Prenatal diagnosis of a rhodopsin mutation using chemical cleavage of the mismatch
2002
Objective: Mutations of the rhodopsin gene are responsible for autosomal dominant or recessive retinitis pigmentosa (RP). The present study reports the first prenatal diagnosis performed on chorionic villi biopsy of a pregnant woman affected by a severe form of autosomal dominant transmitted RP, due to the Arg135Trp substitution. Methods: The rhodopsin gene was analysed by automated direct sequencing and, for the first time, by fluorescence-assisted mismatch analysis (FAMA). The latter is an inexpensive, rapid and particularly sensitive method, based on the chemical cleavage of the mismatch in heteroduplex DNA molecules marked with strand-specific fluorophores. Results: FAMA is a feasible p…
Bilateral DIEP Flap Breast Reconstruction to a Single Set of Internal Mammary Vessels: Technique, Safety, and Outcomes after 250 Flaps.
2019
BACKGROUND: The deep inferior epigastric artery perforator (DIEP) flap is considered the gold standard in autologous breast reconstruction. In bilateral cases, both flaps are often anastomosed to the internal mammary vessels on either side of the sternum. The authors propose a method in which both flaps are anastomosed to only the right side internal mammary artery and vein. METHODS: Between November of 2009 and March of 2018, 125 patients underwent bilateral DIEP flap breast reconstruction with this technique. One flap is perfused by the anterograde proximal internal mammary artery and the second one by the retrograde distal internal mammary artery after presternal tunneling. Patient demog…
The Transversus and Rectus Abdominis Musculoperitoneal (TRAMP) Composite Flap for Vulvovaginal Reconstruction
1996
The transversus and rectus abdominis musculoperitoneal (TRAMP) flap, a novel composite flap supplied by the deep inferior epigastric vessels, was used successfully for partial vulvovaginal reconstruction following anterior and posterior exenteration. The full potential of the TRAMP flap in vulvovaginal reconstruction is being investigated further.
Pitfall prayer marks: Recognition and appropriate treatment: A case report and review of literature.
2019
Prayer marks are asymptomatic callosities resulting from repeated, extended pressure, and friction exerted on bony prominences when praying on hard ground. A 41-year-old woman with ulcerative colitis treated with infliximab was referred to our clinic due to skin changes on her feet that were suspected to be drug eruptions. The patient presented several asymptomatic, hyperpigmented, and hyperkeratotic plaques over the lateral malleoli suggesting that the lesions had a mechanical cause. Further exploration revealed that the patient, a practicing Muslim, prays in a sitting position called "Julus" several times a day. After color marking, the lesions over the lateral feet left a precise imprint…
Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing
2020
AbstractBiological ageing estimators derived from DNA methylation (DNAm) data are heritable and correlate with morbidity and mortality. Leveraging DNAm and SNP data from >41,000 individuals, we identify 137 genome-wide significant loci (113 novel) from meta-analyses of four epigenetic clocks and epigenetic surrogate markers for granulocyte proportions and plasminogen activator inhibitor 1 levels, respectively. We report strong genetic correlations with longevity and lifestyle factors such as smoking, education, and obesity. Significant associations are observed in polygenic risk score analysis and to a lesser extent in Mendelian randomization analyses. This study illuminates the genetic …
Centenarians as a model to discover genetic and epigenetic signatures of healthy ageing.
2018
Abstract Centenarians are a model of successful ageing. The data favours the theory that, in order to live to 100, it is mandatory to inherit the right genetic variants from parents or acquire epigenetic variants through the environment. Therefore, the study of epigenetic signatures of healthy ageing is becoming an important aspect to identify the role of chromatin modification in ageing and understand how manage this fine-tuning system. So, according to the concept of developmental plasticity, establishment of a longevity phenotype requires a combination of stochastic and non-stochastic events that modulate the genetic substrate and leads to a different outcome. It can be concluded that ce…
Biological clocks and physical functioning in monozygotic female twins
2018
Background Biomarkers of biological aging – DNA methylation age (DNAm age) and leukocyte telomere length (LTL)– correlate strongly with chronological age across the life course. It is, however, unclear how these measures of cellular wear and tear are associated with muscle strength and functional capacity, which are known to decline with older age and are associated with mortality. We investigated if DNAm age and LTL were associated with body composition and physical functioning by examining 48 monozygotic twin sisters. Methods White blood cell DNAm age (predicted years) was calculated from Illumina 450 k BeadChip methylation data using an online calculator. DNAm age acceleration was define…