Biomedical subjects
A Palmieri
Publications and source records attributed to A Palmieri.
Scan of human genome reveals no new Loci under ancient balancing selection.
There has been much speculation as to what role balancing selection has played in evolution. In an attempt to identify regions, such as HLA, at which polymorphism has been maintained in the human population for millions of years, we scanned the human genome for regions of high SNP density. We found 16 regions that, outside of HLA and ABO, are the most highly polymorphic regions yet described; however, evidence for balancing selection at these sites is notably lacking--indeed, whole-genome simulations indicate that our findings are expected under neutrality. We propose that (i) because it is rarely stable, long-term balancing selection is an evolutionary oddity, and (ii) when a balanced polymorphism is ancient in origin, the requirements for detection by means of SNP data alone will rarely be met.
Chronic cluster headache responsive to pramipexole.
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Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.
Nonsyndromic cleft lip with or without cleft palate (CL/P) is a complex genetic trait and little is known about its aetiology. Recent investigations on rare clefting syndromes provided interesting clues about genes involved in face development. The PVRL1 gene encodes nectin1, a cell-to-cell adhesion molecule. Mutations in its sequence have been shown to cause the rare autosomal recessive syndrome CL/P-ectodermal dysplasia syndrome (CLPED1), while heterozygosity for the mutation W185X seemed to increase the risk of non syndromic CL/P in a population from northern Venezuela. In the present study, we screened 143 Italian CL/P patients for mutations in PVRL1. Three rare sequence variants in exon 3 that create amino-acid changes were detected in a total of 7 patients. Two of these mutations were not found in a panel of 292 unaffected controls, while the third was found in two controls. This study describes new mutations that may represent genetic risk factors for CL/P. Even though a study to look at the effects of the mutations on nectin1 function was not feasible, supporting evidence was reported, thus confirming the involvement of PVRL1 in the aetiology of non-syndromic CL/P malformation.
Effects of Emdogain on osteoblast gene expression.
OBJECTIVE: Emdogain (EMD) is a protein extract purified from porcine enamel and has been introduced in clinical practice to obtain periodontal regeneration. EMD is composed mainly of amelogenins (90%), while the remaining 10% is composed of non-amelogenin enamel matrix proteins such as enamelins, tuftelin, amelin and ameloblastin. Enamel matrix proteins seem to be involved in root formation. EMD has been reported to promote proliferation, migration, adhesion and differentiation of cells associated with healing periodontal tissues in vivo. DESIGN: How this protein acts on osteoblasts is poorly understood. We therefore attempted to address this question by using a microarray technique to identify genes that are differently regulated in osteoblasts exposed to enamel matrix proteins. RESULTS: By using DNA microarrays containing 20,000 genes, we identified several upregulated and downregulated genes in the osteoblast-like cell line (MG-63) cultured with enamel matrix proteins (Emd). The differentially expressed genes cover a broad range of functional activities: (i) signaling transduction, (ii) transcription, (iii) translation, (iv) cell cycle regulation, proliferation and apoptosis, (v) immune system, (vi) vesicular transport and lysosome activity, and (vii) cytoskeleton, cell adhesion and extracellular matrix production. CONCLUSIONS: The data reported are the first genome-wide scan of the effect of enamel matrix proteins on osteoblast-like cells. These results can contribute to our understanding of the molecular mechanisms of bone regeneration and as a model for comparing other materials with similar clinical effects.
[Neurological disorders in a pediatric emergency room: Epidemiology and clinical aspects].
AIM: The aim of this study was to demonstrate how important neurological disorders are in the organization of services and education of staff in a pediatric emergency room. The first objective was to collect and review data in pediatric emergency care; based on an analysis of these data, the second objective was to design an organizational plan for emergency services to be developed in this setting. METHODS: We used the ICD IX system to search our computerized database created in 2000 and to select diagnoses from the medical records of patients who came to our emergency room with neurological symptoms. Because the system is not yet comprehensive and because this was a retrospective study, we had to select the bulk of the diagnoses following the formulation each of us had given at patient discharge. While this raised the risk of data spread, it still permitted us to identify certain characteristics of the disorders that were particularly useful for classifying their etiopathogenesis. RESULTS: Selected were 2.630 neurological patients that had been discharged or admitted to our unit (2.7% of all admissions). The patients were stratified by disorder and admission code number. Specific disorders of major impact, the clinical approach to their treatment and etiology were reviewed in detail. CONCLUSIONS: The results provide evidence that acute neurological disorders command the immediate attention of the emergency room physician and require prompt diagnosis.
Cluster-like headache secondary to cavernous sinus metastasis.
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What is the best management for abdominal aortic aneurysm in patients at high surgical risk? A single-center review.
AIM: To determine the best treatment for high-risk patients with abdominal aortic aneurysms (AAA). METHODS: We reviewed a prospective database of all patients who underwent conventional (OPEN) or endovascular aneurysm repair (EVAR) between January 1998 and December 2002. Patients were preoperatively classified according to the American Society of Anesthesiology (ASA). Comorbidities and medical risk factors were categorized according to the Ad Hoc Committee on Reporting Standards. Perioperative mortality and morbidity rates were analyzed according to the type of surgical procedure (OPEN vs EVAR) and ASA class. Patients in ASA classes I and II were excluded. Continuous data were expressed as mean +/- standard deviation. All data were calculated using the cumulated actuarial method of event outcome probability. Kaplan-Meier curves were constructed and the log-rank statistic and chi squared test were used for comparative data. P values less than 0.05 were considered to indicate statistical significance. RESULTS: Of the total 375 patients who underwent AAA repair, 168 (45%) belonged in ASA classes III and IV (85 submitted OPEN and 83 EVAR to repair). Among general risk factors only coronary artery disease differed significantly between the 4 groups (P = 0.04). The Bonferroni correction identified a statistically significant difference between ASA classes III and IV for the OPEN technique and for EVAR (P = 0.007 and P = 0.012). Neither 30-day morbidity or mortality differed significantly according to ASA class and surgical technique. The median follow-up was 19 months (range 5-60 months). The overall survival was 78% at 60 months. Survival rates during follow-up differed significantly in the 2 risk classes (ASA III 5/123, 4% vs ASA IV 9/38, 24%), (P = 0.0001). The deaths in the ASA class 4 patients (12/14; 86%) were caused by preexisting medical comorbidities (in 9 patients cardiovascular, in 1 cancer and in 2 cirrhosis). CONCLUSIONS: Except patients with small aneurysms (< 6 cm), in whom the risk of death at 1-year due to comorbidities exceeds the risk of a ruptured aneurysm, all patients at high surgical risk (ASA class IV) benefit from AAA repair. Patients with small aneurysms must undergo strict surveillance to assess growth and aneurysmal wall changes to prevent unexpected rupture.
Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate.
The pathogenesis of cleft lip with or without cleft palate (CL/P) is complex; its onset could be due to the interaction of various genetic and environmental factors. Recently MTHFR functional polymorphisms were found to increase the risk of this common malformation; however, this finding is still debated. We investigated 110 sporadic CL/P patients, their parents and 289 unrelated controls for c.665C>T (commonly known as 677C>T; p.Ala222Val) and c.1286A>C (known as 1298A>C; p.Glu429Ala) polymorphism in the MTHFR gene. Transmission disequilibrium test (TDT) showed no distortion in allele transmission. Nevertheless, association studies revealed significant differences in allele frequencies between mothers of CL/P patients and controls. This work supports the hypothesis that a lower MTHFR enzyme activity in pregnant women, mostly related to the c.665C>T variant form, is responsible for a higher risk of having CL/P affected offspring.
Hemicrania continua evolving from migraine with aura: clinical evidence of a possible correlation between two forms of primary headache.
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[Triage and white codes].
AIM: In this paper, the authors analyse the type of accesses to the Emergency Department of the DEA of the G. Gaslini Institute defined by the triage as White Code, monitoring the outcome of said access. METHODS: This investigation was of retrospective type and lasted 6 months. It employed the fast track triage nursing system for the selection of patients. Independently of their age and sex and presenting pathology, the selected patients, at the moment of nursing triage, received the white code on the basis of EPM (emergency paediatric medicine) paediatric triage guidelines. A specially designed grid containing motivations was applied to those admitted to hospital on the basis of the Emergency Department judgement. The prospective investigation was facilitated by the computerised emergency department patient management system that has been operative in our department since June 2000. RESULTS: A total of 22400 white code accesses were recruited into the study; the admission percentage was 3.7% (89 patients). The most frequent reason for hospitalisation was the need to clinically classify a pathology that persisted without a complete response. CONCLUSION: This preliminary investigation will be pursued in the future with a collection of data for organisation type purposes and in order to contribute to greater hospital-local district integration.
Epidemiology of hydatidosis in the province of Sassari, Italy.
Cystic echinococcosis is endemic in certain parts of the world, including Sardinia, Italy. It was performed a study in the province of Sassari in order to evaluate the incidence of the infection in man and the effects of control programs since 1964 to 2002. Data obtained by surgical records, hospital discharge forms, radiological and pathological files were collected using a case report form. During the years 1964-2002, 2702 new cases were identified (average annual incidence: 17 per 100,000) and 1981 (73.3%) were submitted to surgical treatment. In 57.3% municipalities no cases were observed during the years 1998-2002. Males are more affected (56.2%), mostly farmers-shepherdess (68.6 per 100,000) and pensioners (59.6 per 100,000). Control measures led to a significant decline in the incidence rate of hydatidosis during the period 1964-2002, dropping by 27.6 per 100,000. The mean age of surgical patients increased during the years of surveillance, such as the surgical liver/lung ratio as a consequence of a cohort effect. The durability of control programs is the corner stone for obtaining a significant decrease of this infection.
One-trocar laparoscopy: a valid procedure to treat abdominal complications in children with peritoneal shunt for hydrocephalus.
BACKGROUND: The aim of this paper is to show the efficacy of laparoscopy using only one umbilical trocar to treat abdominal complications of hydrocephalic children with ventriculoperitoneal shunts (VPS). MATERIALS AND METHODS: In a 15-year period, 14 laparoscopies were performed on as many children with VPS complications: in the last 4 patients only one trocar was used to solve the complications, and this subgroup will be the object of the present study. Concerning the indication for surgery, the patients presented one catheter lost in the abdominal cavity; one cerebrospinal fluid pseudocysts; one bowel obstruction; and one malfunctioning peritoneal limbs of the catheter. We used the one-trocar laparoscopic approach in all the 4 patients, and the 10-mm trocar was always introduced through the umbilical orifice in open laparoscopy. RESULTS: The laparoscopic technique was curative in all four cases and permitted the solution of the complication. CONCLUSIONS: One-trocar laparoscopic surgery can be considered as the ideal procedure in case of abdominal complications of VPS in children with hydrocephalus.
Neurophysiologic evaluation of central-peripheral sensory and motor pudendal pathways in primary premature ejaculation.
OBJECTIVES: Pudendal nerve somatosensory evoked potentials (SEPs), the bulbocavernosus (BC) reflex, and BC perineal motor evoked potentials after transcranial magnetic cortical stimulation were performed in patients with primary premature ejaculation to investigate the somatic sensory and motor function of the genital area. METHODS: Fourteen patients with primary premature ejaculation underwent psychological counseling, urologic physical examination, transrectal ultrasound examination, laboratory testing, and the Stamey test. The spinal and cortical pudendal nerve SEPs were performed by dorsal nerve stimulation at the penile shaft (DN-SEPs) in all patients and at the glans penis (GP-SEPs) in 3 of them. The BC reflex was obtained by stimulating the base of the penis. RESULTS: The mean sensory threshold did not significantly differ between the patients and normal subjects. Cortical DN-SEPs were normal in all patients. The sensory central conduction time, calculated in 6 patients, was normal. The mean cortical DN-SEP amplitude was significantly smaller in patients than in controls. In 3 patients and in 3 controls who underwent both DN-SEP and GP-SEP testing, the glans penis sensory threshold was lower than the dorsal nerve threshold and the cortical GP-SEP latency was longer than the cortical DN-SEP latency. The BC reflex was normal in most patients. The BC motor evoked potentials were normal in all patients, but one. CONCLUSIONS: We did not confirm either a faster conduction along the pudendal sensory pathway or a greater cortical representation of the sensory stimuli from the genital area in our patients. Moreover, we did not confirm hyperexcitability of the BC reflex in them. Our results suggest that the electrophysiologic approach is probably not sufficient to clarify the causes of primary premature ejaculation. A more integrated investigation could allow better results in this field.
Current drug use as risk factor for erectile dysfunction: results from an Italian epidemiological study.
Several drugs have been associated with an increased risk of erectile dysfunction (ED). We analysed the role of pharmacological treatments on the risk of ED using data from a cross-sectional study on prevalence and risk factors for ED in the general population in Italy. A total of 2450 men aged more than 18 years were randomly identified by 143 general practioners (GP) among their registered patients and invited to a confidential interview by their GP. Patients were asked 'about their ability to achieve and maintain an erection sufficient for satisfactory sexual performance'. If they were dissatisfied, they were defined as having ED. Out of the 2450 men identified, 440 (18%) refused to participate. The present analysis therefore includes information on 2010 men. After adjustment for related pathologies, anxiolytics and antidepressants showed insignificantly higher odds ratio (ORs, respectively, 1.7 and 2.1); antipsychotic drug use significantly increased the risk of ED (OR 9.0, 95% confidence interval, CI 1.8-44.4). Diuretics (OR 3.1, 95% CI 1.4-6.9) and anticholinergic drugs (OR 12.8, 95% CI 2.7-60.1) were associated with ED risk. No association emerged between ED and H2 antagonists, anticholesterolemic or hypoglycemic drugs. In conclusion, after taking account of related pathologies, our results suggest that men treated with antipsychotic, diuretic and anticholinergic drugs are at greater risk of ED.
Female sexual dysfunction: an update on physiopathology.
Despite the importance of sexuality for both men and women of all ages, only in the last few years extensive research has been carried out into female sexual problems. It has been discovered that sexual problems affect a considerable number of women each year, and this indicates the validity and necessity of further medical studies. We know that female genital sexual response is a combination of vasocongestive and neuromuscular events in the genital tract and pelvic floor which are controlled in part by specific neurotransmitters. Other pelvi-perineal genital structures undergo vasculogenic changes, namely the labia, periurethral glands, urethra and the Halban's fascia but much less attention has been paid to the role of these tissues in sexual response compared to the clitoris and the vagina. The most common etiologies of female sexual dysfunction are vasculogenic, neurogenic, hormonal/endocrine, muscologenic. The increasing various problems of female sexual dysfunction and the interest in the matter and the subsequent research are factors which keep the scientific community involved constantly active.
The genome of the natural genetic engineer Agrobacterium tumefaciens C58.
The 5.67-megabase genome of the plant pathogen Agrobacterium tumefaciens C58 consists of a circular chromosome, a linear chromosome, and two plasmids. Extensive orthology and nucleotide colinearity between the genomes of A. tumefaciens and the plant symbiont Sinorhizobium meliloti suggest a recent evolutionary divergence. Their similarities include metabolic, transport, and regulatory systems that promote survival in the highly competitive rhizosphere; differences are apparent in their genome structure and virulence gene complement. Availability of the A. tumefaciens sequence will facilitate investigations into the molecular basis of pathogenesis and the evolutionary divergence of pathogenic and symbiotic lifestyles.
Economics of reservoir sedimentation and sustainable management of dams.
Accepted practice has been to design and operate reservoirs to fill with sediment, generating benefits from remaining storage over a finite period of time. The consequences of sedimentation and project abandonment are left to the future. This 'future' has already arrived for many existing reservoirs and most others will eventually experience a similar fate, thereby imposing substantial costs on society. Such costs could be avoided if sedimentation was minimized and dams were allowed to live forever. The fact that the world's inventory of suitable reservoir sites is limited provides an additional reason for encouraging the sustainable management of dams. This paper provides a framework for assessing the economic feasibility of sediment management strategies that would allow the life of dams to be prolonged indefinitely. Even if reduced accumulation or removal of sediment is technically possible, its economic viability is likely to depend on physical, hydrological and financial parameters. The model presented incorporates such factors and allows a characterization of conditions under which sustainable management would be desirable. The empirical implementation of the model draws upon the substantial amount of technical information available. We analyze the sustainability of reservoirs, with a focus on the trade-off between such sustainability and the short to medium term benefits which a reservoir is expected to produce. The results show that, for a very wide range of realistic parameter values, sustainable management of reservoirs is economically more desirable than the prevailing practice of forcing a finite reservoir life through excessive sediment accumulation.