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Biomedical subjects

L Capasso

Publications and source records attributed to L Capasso.

At least 37 records · Page 2Linked to original sources

hMLH1 mutations in hereditary nonpolyposis colorectal cancer kindreds. Mutations in brief no. 182. Online.

Hereditary nonpolyposis colorectral cancer (HNPCC), an autosomal dominantly inherited predisposition for early onset colorectal cancer, accounts for at least 6% of all colorectal malignancies. HNPCC results from germ-line mutations in DNA mismatch repair (MMR) genes (hMSH2, hMLH1, hPMS1 and hPMS2) and is associated with a high rate of replication errors in tumor cells. Using PCR-SSCP, the protein truncation test and DNA sequencing we have analyzed the hMSH2 and hMLH1 genes in 10 Italian families that met the standard diagnostic criteria for HNPCC. We have identified three new mutations in the hMLH1 gene. One mutation consists in a deletion of one base pair at nucleotide 954 (954delC) in exon 11 that creates an early stop at codon 366 and is predicted to abolish normal protein function. The other two are missense mutations. Cys77Arg and Ser193Pro, that cause dramatic amino acid substitutions in two highly conserved MLH domains. The Cys77Arg mutation occurs within a domain (1-114 residues) that is very critical for MMR function. The Ser193Pro mutation occurs in a highly conserved central region of the MLH1 protein. No functional domains have yet been identified in this region. All mutant alleles cosegregate with the cancer phenotype.

Adaptor Proteins, Signal Transducing↗

Effects of wortmannin on human neutrophil respiratory burst and phagocytosis.

Modulation of neutrophil response to naturally occurring stimuli is important to avoid host tissue injure. Both soluble and particulate stimuli may induce superoxide anion generation in human polymorphonuclear leukocytes. Recently wortannin has been shown to inhibit the N-formyl-methionyl-leucyl-phenylalanine (fMLP) induced activation of respiratory burst via phosphatidylinositol 3-kinase. However no data are available about the effect of the inhibitor on the respiratory burst induced by a particulate stimulus. In this paper we studied the effect of wortmannin on E. coli induced respiratory burst and phagocytosis by flow cytometry, which allows the quantitation of both H2O2 production and ingested bacteria in whole blood samples without the need of purification and concomitant manipulation of the cells. The effects of worthmannin on fMLP-induced chemotaxis was also examined by the under agarose method. Neither the E. coli nor the fMLP-induced responses were blocked by wortmannin, suggesting that PI 3-kinase activity is not required to activate these neutrophil functions. Since it is known that the respiratory burst elicited by fMLP is blocked by wortmannin, our results suggest that the generation of oxygen radicals is controlled via different signal transduction pathways, depending on the agonist used.

Androstadienes↗

A further observation of corneal dystrophy and perceptive deafness in two siblings.

We studied two siblings with the rare association of corneal dystrophy and perceptive deafness (Harboyan syndrome). To our knowledge, this is the third description of this hereditary disorder. The results of the clinical, genetic, audiometric, and ocular examination of the two siblings and the type of inheritance, which agree with the previous description of the syndrome, are reported. Various hereditary syndromes associated with corneal dystrophy are reviewed.

Adult↗

[A paleopathological case of Stafne's defect of the mandible (the Rutigliano necropolis, Bari, 6th-4th century B.C.)].

Authors describes a paleopathological case of regional osseous atrophy of a human jaw dated from the Roman time and coming from Rutigliano (Bari). The atrophy was probably related to the compressive action of the lateral part of the submandibular salivary gland, such as the Stafne's defect. Authors discussed the differential diagnosis of this case and remarked the extreme rarity of this jaw pathology, especially in ancient times.

Adult↗

[Archaelogical documentation of the atmospheric pollution in antiquity].

Authors examines the paleopathologic evidences of the atmosferic pollution in ancient time, point out the attention on two principal findings: pulmonar anthracosis and lead exposure. Pulmonar anthracosis is present in many mummified bodies and was due to the deposition on the pulmonar alveoli of carbon particles coming from the combustion of oils or vegetables for illumination, cooking or heating. Lead atmosferic pollution was very high between V century B.C. and III century A.D. in the North emisphere, in consequence to the impressive quantity of lead produced by Greek and Roman metallurgic technology (perhaps 80,000 metric tons per year around the start of I century AD). Cumulative lead fallout to the Greenland Ice Sheet during these eight centuries was as high as 15 percent of that caused by the massive use of lead alkyl additives in gasoline since the 1930s. Finally, the high atmosferic lead concentration caused a high exposure of humans to the lead: in fact paleopathologists, have clarely demonstrated a high quantity of lead concentration in the human bone dated to the period between III century B.C. and VI century AD circa.

Anthracosilicosis↗

[Not Available].

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History, Ancient↗

[Paleopathology of human tumors].

The occurrence and frequency of neoplastic lesions in ancient populations has been a subject of debate for both paleopathologists and medical historians. The available sources of information are both direct, i.e., deriving from the study of ancient skeletal or mummified samples, and indirect, i.e., deriving from the analysis of ancient works of art, and of written records. Often, however, indirect sources do not allow a precise nosographic identification of the disease. Therefore, paleopathology is critical for the study of tumors in antiquity. The paleopathological record is itself difficult to interpret, because of the relative scarcity and poor state of preservation of the samples generally available for analysis. The study of the antiquity of tumors can be conveniently approached following a geographic criterion. Tumors are already documented in fossil specimens referred to an early ancestor of modern humans, Homo erectus. However, neoplastic lesions become relatively abundant only from the Neolithic period. Altogether, in ancient populations from Africa, Eurasia and the Americas, some benign tumors and most malignant soft tissue tumors may have had a frequency comparable to that documented for modern populations. In contrast, carcinomas and hemopoietic tumors which occur frequently in modern populations appear to have been generally rare in antiquity. To a large extent, this was probably related to the demographic structure of ancient populations. However, some malignant tumors, including nasopharyngeal carcinoma in ancient Egypt, and multiple myeloma in Africa, Eurasia, and the Americas, may have occurred more frequently in the past.

History, Ancient↗

Paleopathology of the Copper Age mummy from the Val senales glacier.

The unique conditions of preservation of the Copper age mummy found in the Val Senales glacier permit to analyze the general state of health of a man of the late European prehistory. Investigations conducted within the organizational framework of an International Research Project revealed the presence of a series of alterations, that, in a broad sense, can be considered of paleopathological interest. These can be classified as: 1) post mortem lesions, including scalp erosion, alopecia, soft tissue loss in the right gluteal region, right coxo-femoral disarticulation, right sacro-iliac dislocation; 2) lesions that occurred intra vitam, including tattooings, dental wear, trichorrexis nodosa, nail hypoplasia, moderate osteoarthrosis of the lumbar vertebral column and of the coxo-femoral joints, tibio-tarsal osteosclerosis. The palaeopathological analysis of this unique mummy shed vivid light on the mutual interactions between disease, environment, and culture, that shaped human life in a distant past.

Austria↗

History of medicine and prehistoric orthopedics.

Increasing efforts have been recently made to apply medical technologies to history of medicine of ancient time. Despite the use of molecular biology techniques, the most reliable results have been obtained by the paleopathological study on disease which may be recognized by the observation of stigmata of bones: the datation of skeletal lesions and the findings of cranial and orthopedic lesions indicate that the attempts of cure of bones are typical of early medical activity, dating from the prehistoric antiquity.

History, Ancient↗

[Not Available].

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Allergy and Immunology↗

[The absence of a central lower incisor in a medieval subject from the Norman cemetery of San Lorenzo di Aversa (Caserta)].

The authors describes a case of hypodontia in a male subject aged about 45 years and coming from the medieval necropolis of San Lorenzo of Aversa (Caserta, South Italy), dated to 890-1290 A.D. Hypodontia consists of the absence of a central inferior incisor (probably the left). Radiographic examination excluded the presence of a healed traumatic lesion. For this reason, the authors suggests that the described hypodontia was related to a primary agenesia of the central inferior incisor.

Anodontia↗

[The congenital absence of the permanent upper lateral incisors with the persistence of the deciduous canines in a subject of the Iron Age from the Sulmona (AQ) necropolis].

The paper reports a case of bilateral agenesia of the permanent upper lateral incisors associated with the persistence of the deciduous eye teeth placed between the first premolars and the permanent canine teeth which, in turn, had emerged in place of the agenetic lateral incisors (situs dentis inversus) in a adult male from the Iron Age whose skeletal remains were exhumed from tomb no. 58 of the Sulmona necropolis (AQ). The authors place the case in the context of agenesia as found both in today's population and in ancient times.

Adult↗

DNA-binding of water-soluble furocoumarins: a thermodynamic and conformational approach to understanding different biological effects.

The interaction of two water-soluble furocoumarins, 8-(omega-diethyl aminopropyloxy)psoralen hydrochloride (I) and its 5-isomer (II), with DNA has been investigated by spectroscopic, equilibrium dialysis, hydrodynamic and chiroptical techniques. Both compounds intercalate into the polynucleotide double helix. From the dependence of the binding on ionic strength, ion release and binding free energy corrected for counterion release have been quantitatively estimated. It is shown that the differences in DNA-affinity observed for compounds I and II arise primarily from non electrostatic contributions. The binding process is exothermic, with slightly different van't Hoff enthalpies for the examined furocoumarins. Helix lengthening and dichroic effects indicate different intercalation geometries for the isomeric compounds. These studies allow a possible explanation for the finding that isomer I exhibits largely better DNA-photobinding properties, while isomer II is by far more effective as an antiviral agent.

Animals↗