Biomedical subjects
Publications and source records attributed to A Franco.
We present two siblings with retinitis pigmentosa, mental retardation, markedly short stature, and brachydactyly. This association of clinical findings appears to be distinct from previously described syndromes and seems to represent the pleiotropic effects of a single autosomal recessive gene.
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This historical review of obstetric analgesia-anesthesia in Spain covers the first half of the twentieth century. Following usual practice for researching medical history, we have performed an exhaustive review of Spanish medical literature published during the study period, followed by classification, study and critical analysis. We found that the first half of the century saw considerable change in the application of analgesic-anesthetic techniques for childbirth and obstetric procedures, indicating that practitioners were far from apathetic as had been obstetricians of the second half of the nineteenth century, who generally rejected any type of analgesia for use during labor and birth. The numerous techniques in vogue during that period under study are described, although analgesia-anesthesia by inhaled ether and chloroform was undoubtedly the most widely used by obstetricians until well into the 1950's.
BACKGROUND: Recent findings have indicated the association between APC-resistance and cerebrovascular disease. These reports prompted us to investigate whether resistance to APC could be found in patients suffering from stroke. METHODS: Therefore, we studied APC-resistance in 50 young adults (< or =45 yrs) with a history of ischemic stroke. Eleven out of fifty cerebrovascular subjects showed APC-resistance, while 2 had PC deficiency and 3 PS deficiency. No deficiencies in the anticoagulant protein AT III and in fibrinolytic proteins were found. The family history demonstrated a distribution of APC-resistance compatible with dominant autosomal inheritance. The plasma concentration of prothrombin fragment 1+2 (F1+2), which is a marker of hypercoagulable states, was also measured in patients and family members of resistant subjects (n = 38). RESULTS: DNA analysis showed factor V R506Q mutation (Leiden mutation) in 11 patients and their relatives with poor response to activated protein C detected by APTT tests. Of 11 investigated subjects with APC-resistance, 9 were heterozygotes and 2, with the lowest APC-ratio values, were homozygotes for factor V mutation. Among 38 relatives, 22 showed a poor response to APC and according to the APC-ratio values, 18 were heterozygotes and 4 homozygotes for FV Leiden mutation. The mutation, in heterozygous form, was also found in 2% of our normal population (n = 100). The plasma concentration of F1+2 was significantly higher both in 11 individuals carrying the FV:Q506 mutation and in 39 patients without APC-resistance compared to that found in the control group. However, the patients with FV:Q506 mutation showed the highest values in F1+2. In the studied family members F1+2 plasma levels were within normal values. CONCLUSIONS: Our findings indicate a possible involvement of APC-resistance in the pathogenesis of cerebral thrombosis in young adults and agree with the hypothesis that individuals with APC-resistance have an imbalance between pro-and anti-coagulant forces leading to increased thrombin generation and a hypercoagulable state.
We present a study of modelling and the first steps of an experiment of a smart room for hospitalised elderly people. The system aims at detecting falls and sicknesses, and implements four main functions: perception of patient and environment through sensors, reasoning from perceived events and patient clinical findings, action by way of alarm triggering and message passing to medical staff, and adaptation to various patient profiles, sensor layouts, house fixtures and architecture. It includes a physical multisensory device located in the patient's room, and a multi-agent system for fall detection and alarm triggering. This system encompasses a perception agent, and a reasoning agent. The latter has two complementary capacities implemented by sub-agents: deduction of type of alarm from incoming events, and knowledge induction from recorded events. The system has been tested with a few patients in real clinical situation, and the first experiment provides encouraging results which are described in a precise manner.
The bacterial contamination rate of multidose ocular solutions used by hospitalized patients was evaluated by culturing vial dropper tips and residual solution in vials. Bacterial colonies were counted and identified. Overall 39 (23.5%) selected vials were contaminated. Contamination rates were 17.7% (20/113) for vials used by ophthalmology ward patients and 35.8% (19/53) for vials used by internal medicine and gerontology patients (P < 0.02). The most commonly identified organisms were part of the normal commensal flora. Three ophthalmology patients were using vials contaminated with Pseudomonas aeruginosa. A significant (P < 0.01) positive correlation was found between vial contamination rate and duration of vial use. Vials containing an antimicrobial agent were less likely to be contaminated than vials without antimicrobials (P < 0.01). No clinical consequences of vial contamination were identified. However, ocular solution vial contamination carries a risk of infection. Our data are evidence of inadequate efficacy of preservatives present in ocular solutions. The standard practice of using ocular solution vials for seven days in health care facilities may need to be reappraised. Care should be taken to ensure that health care providers and patients understand the rules for ocular solution use. Unit-dose presentations may be preferable over multi-dose presentations for in hospital treatment.
Chordoma of the mobile segments of the spine are infrequent lesions and especially rare are those located in the lower part of the cervical spine. We present the case of a cervical chordoma located in the C6 vertebral body diagnosed by means of magnetic resonance imaging and operated on by an anterior approach. The authors discuss the clinical and neuroradiological features of this disease also analysing some controversial therapeutic aspects.
Addition of hydrogen peroxide, menadione, or plumbagin to growing cultures of the fission yeast Schizosaccharomyces pombe increased trehalase activity. The effect was inhibited only slightly in the presence of cycloheximide, indicating that the stimulation of trehalase triggered by oxidative stress is mostly due to posttranscriptional activation. Northern blot analysis of trehalase mRNA level revealed that oxidative stress also induces a moderate rise in transcription of trehalase. Mutants disrupted in genes encoding elements of the mitogen-activated protein kinase (MAPK) cascade showed a reduced increase in trehalase activity upon oxidative challenge, which was coincident with a block in transcription of trehalase. Taken together, the results support the idea that the enhancement of trehalase by oxidative stress is due to enzyme activation (via the Pka1/Sck1 phosphorylation pathway) and induction of trehalase mRNA (via the MAPK signaling pathway). In spite of the trehalase increase, a net accumulation of trehalose was noticed during the oxidative stress.
Establishment of infection and disease implies modifications in the genetic programmes of the cell systems that are involved and the differential expression of genes in both parasite and host. In order to identify and isolate relevant genes of the fungus, Histoplasma capsulatum, in which expression is specifically induced during its interaction with murine macrophages (Mphi), we performed a comparative analysis of the pattern of gene expression of the fungus before and after exposure to, and internalization into Mphi by using differential display reverse transcriptase-PCR (DDRT-PCR). Using a limited set of primer combinations, six cDNA fragments of H. capsulatum were identified and isolated; five representing fungal genes in which expressions were enhanced during Mphi infection, whereas one mRNA fragment was down-regulated. Slot blots followed by Northern blot analyses confirmed that the transcripts detected with cDNA clones were over expressed after 1 h of Mphi infection, whereas no transcripts were detected with mRNA purified from H. capsulatum before infection. Sequence analyses and database searches revealed no significant homology to any known sequence for five of these clones. One of the clones showed homology to the rat p105 kD protein, and to the p100 kD co-activator proteins of human and Caenorhabditis elegans. To our knowledge, this is the first experimental evidence that specific genes are differentially expressed by a fungal pathogen when it is exposed to, and phagocytosed by Mphi. Furthermore, these results show that the DDRT-PCR procedure has adequate sensitivity to detect fungal genes induced during parasite-host interaction to identify potential new targets that can be used to develop new antifungal drugs.
BACKGROUND: Having a low number of siblings and a low birth order has been reported to be a relevant risk factor for development of atopic diseases and skin sensitization to common inhalants. Although the inverse association of atopy with sibship size has been confirmed repeatedly, the association with birth order has provided conflicting results. This possibly is due to the relatively small size of the population sample examined. OBJECTIVE: The objective of this study was to investigate the relation between sibship size, birth order, and atopy in a very large population sample, highly homogeneous for age and sex. METHODS: This was a retrospective survey of 11,371 Italian young men, 18 to 24 years old, all candidates for enrollment in the Italian Air Force. Demographic data had been collected by a standard questionnaire. Specific IgE for locally relevant airborne allergens had been tested by a multi-RAST assay (CAP-Phadiatop). RESULTS: The prevalence of atopy (defined as a high level of specific IgE against inhalants [cut-point >1.2 log RU]) was inversely related to the total number of siblings (25% in those with no siblings and 9% in those with five or more siblings), with a mean of a 3% decrease in prevalence for each added sibling. This relation persisted after adjustment for relevant variables such as father's education and rural and southern residence. An independent association between birth order and atopy was also observed because the decrease in atopy prevalence with increasing numbers of older siblings was significantly steeper than that found with the number of younger siblings (chi2 = 179, df = 1, p < 0.0001). CONCLUSIONS: In a very large and homogeneous population sample of a Mediterranean country, not only sibship size but also birth order was significantly associated with atopy. This observation further highlights the role of family structure in the development of atopy and supports the hypothesis that cross-infections acquired early in infancy or in later childhood might prevent development of atopy later in life.
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Several lines of evidence suggest that free radical mediated injury and oxidative stress may lead to muscle necrosis in the muscular dystrophies, including those related to defects in the dystrophin gene. We have examined muscle cell death using an in vitro assay in which the processes that lead to myofiber necrosis in vivo may be amenable to investigation in a simplified cell culture system. Using myotube cultures from normal and dystrophin-deficient (mdx) mice, we have examined the susceptibilities of the cells to different metabolic stresses. Dystrophin-deficient cells were more susceptible to free radical induced injury when compared to normal cells, but the two populations were equally susceptible to other forms of metabolic stress. The differential response appeared to be specifically related to dystrophin expression since undifferentiated myoblasts (which do not express dystrophin) from normal and mdx mice were equally sensitive to oxidative stress. Thus, the absence of dystrophin appears to render muscle specifically more susceptible to free radical induced injury. These results support the hypothesis that oxidative stress may lead to myofiber necrosis in these disorders. Elucidating the mechanisms leading to cell death may help to explain the variabilities in disease expression that are seen as a function of age, among different muscles, and across species in animals with muscular dystrophy due to dystrophin deficiency.
OBJECTIVE: The aim of this study was to measure the fatty acid (FA) dietary intakes and the FA composition of plasma total lipids in a selected group of hospitalized elderly patients. METHODS: Twenty-three women aged 76 to 99 years were recruited. FA were analyzed in 5-day duplicate portions and in plasma by gas liquid chromatography. RESULTS: The hospitalized elderly women ingested an average of 5.22 megajoules (MJ) and 45.9 g of lipids per day. Polyunsaturated fatty acids (PUFA) represented 11.0% and saturated fatty acids (SFA) 53.6% of the lipid intake. Minimal recommendations for linoleic acid intake were reached in average, but 32% of the patients ingested less than 3 g of linoleic acid/d. Eighty-six percent received less than 0.5% of energy for alpha-linolenic acid and 64% had low intakes in very long-chain n-3 FA. In parallel, these patients presented several biochemical signs of essential fatty acids (EFA) insufficiency (decrease in linoleic acid, increase in monounsaturated fatty acids (MUFA), in n-7 FA and in indexes of delta-6 and delta-9 desaturase activities). CONCLUSIONS: Hospitalized elderly patients have low PUFA intakes and show biochemical indices of EFA insufficiency. These patients might benefit from a nutritional supplementation providing both EFA and antioxidant micronutrients to limit the risk of skin troubles, immune system impairment and vascular disease often observed in institutionalized elderly subjects.
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The structure of the pineal gland of 32 clinically healthy ovine embryos at different stages of development was studied. Embryos were arranged in four age groups, each containing eight embryos (four males and four females), defined in terms of the most relevant histological features: group 1 (27 to 69 days of prenatal development), group 2 (70 to 97 days), group 3 (98 to 116 days), and group 4 (117 to 150 days). At around 30 days of prenatal life, according to topographic criteria, the pineal outline begins to differentiate into a dorsal evagination of the diencephalic medium line, close to the anterior and posterior commissures. The growth of the pineal is biphasic. The ontogenic-proliferative phase begins at 30 days and includes the invasion of ependymal cells and the proliferation of the pineal parenchyma cells. The hypertrophic-differentiation phase includes the volume increment of the pinealoblasts and their differentiation into pinealocytes; this occurs at around 118 days. At around 98 days, the gland acquires its definitive compact appearance due to 1) glandular growth in constant volume and 2) the obliteration of pineal recess. The glandular structure displays a parenchyma made up of pinealoblasts, interstitial cells, and cells containing pigment. The pineal stroma is structured in pseudolobes formed by reticular and collagen fiber septae, which constitute together the interstitial cell prolongation net, which is the support structure of the whole glandular cytology. Capillaries are detected all over the glandular surface, being more abundant in the medullary zone. At around 98 days of prenatal development, VIP (Vasoactive Intestinal Peptide) positive fibers, distributed around blood vessels and among pinealoblasts were detected.
Deep-vein thrombosis (DVT) remains the most frequent complication following hip surgery. This study was designed in order to evaluate the development of DVT after hip fracture surgery, and to determine if venous wall thickening detected before surgery predisposes patients to postoperative DVT. Systematic ultrasound examinations were performed on 100 consecutive patients undergoing hip fracture surgery on the day preceding the operation, and then postoperatively on days 2, 5 and 10. A total of 12 proximal, 28 distal deep-vein and four saphenous vein thromboses were detected. Of the DVT, 19 (43%) were detected at day 2. Five out of eight patients with venous wall thickening had a previous history of DVT. Venous wall thickening was positively correlated with proximal DVT development (62.5% versus 8% incidence in the group of patients with and without venous wall thickening respectively; p<0.001, relative risk = 7.8). This study highlights the high frequency of early major thromboembolic events following hip fracture surgery. It is considered that patients with a previous history of venous thromboembolic disease should undergo B-mode ultrasonographic examination before hip fracture surgery. Patients in whom venous wall thickening is detected should have repeated postoperative ultrasonographic examinations enabling early detection of DVT.
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Fifteen elderly patients participated in a teleconsultation with an orthopaedic surgeon, which was then followed by a conventional, face-to-face consultation. The comparison between the surgeon's ratings for both types of consultation suggested that the telemedicine consultation was satisfactory in terms of the quality of image and sound, the clinical examination and general simplicity. The telemedicine consultations did not generate a need for any additional clinical investigations, although in two cases a face-to-face consultation was necessary to clarify clinical signs (shortening of a limb and scar tissue). The surgeon's rating of his decision level was superior in the face-to-face situation in four cases, and for 11 patients it was equal. Similarly, the surgeon's level of confidence in decision making was superior in the conventional situation for five patients and equal for 10 patients. Patient attitudes towards teleconsulting were favourable. There was a high level of patient satisfaction. Teleconsulting between orthopaedic surgeons and elderly patients therefore appears to be possible, provided that certain technical, clinical and psychological considerations are addressed.