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Biomedical subjects

F Lombardo

Publications and source records attributed to F Lombardo.

At least 19 recordsLinked to original sources
PubMed2006

Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development.

UNLABELLED: Anterior pituitary agenesis (APA) has very rarely been reported. Therefore, its phenotypical and genotypical features are not well known. The aim of this study was to ascertain whether the clinical picture in 4 subjects with APA and multiple pituitary hormone deficiencies (MPHD) was different compared to the one observed in a selected control group consisting of 7 MPHD individuals with hypoplastic (and not aplastic) adenohypophysis and pituitary stalk interruption syndrome. Another goal was to investigate genetic basis of APA by analyzing for the first time in this condition many of the transcriptional factors which are required for both structural development and cellular differentiation of hypophysis. Age at diagnosis was significantly lower in APA children than in controls (1.5+/-2.3 vs 11.1+/-7.6 yr, p<0.0005). Microphallus and neonatal cholestasis were observed only in APA subjects (chi-squared=4.3, p<0.05) and also neonatal hypoglycemia was more frequent in APA patients than in controls (X2=4.05, p<0.05). Molecular analyses of the genes of the transcriptional factors POU1F1, PROP1, LHX3, LHX4, ISL1 and HESX1 detected no mutations in APA patients. CONCLUSIONS: a) if compared with a selected cohort of MPHD patients with both adenohypophysis hypoplasia and pituitary stalk interruption syndrome, the ones with APA show an earlier and more severe picture of hypopituitarism; b) mutations in several transcription factors that are known to be essential for the development of Rathke's pouch are not necessarily found in humans with APA.

Child, Preschool↗
PubMed2006

Cryopreservation and sperm DNA integrity.

Cryopreservation of sperm is an extremely important issue in the field of male infertility as freezing can have detrimental effects on a variety of sperm functions, some of them not accessible to the traditional semen quality analysis. In this study, chromatin structure variations in human spermatozoa in semen were studied with the sperm chromatin structure assay (SCSA), both before and after cryopreservation. Samples were divided into two aliquots: the first was analysed without further treatment, while the second was stored in liquid nitrogen at -196 degrees C using standard cryopreservation techniques. The fresh and thawed aliquots were also assessed by light and fluorescence microscopy (after Acridine Orange staining, AO), and computer-assisted semen analysis (CASA) of motility. Overall sperm quality was found to deteriorate after cryopreservation. When thawed spermatozoa were subjected to an extra swim-up round, a general improvement in nuclear maturity was seen in post-rise spermatozoa.

Acridine Orange↗
PubMed2006

The effect of adding two target-controlled concentrations (1-3 ng mL -1 ) of remifentanil on MAC BAR of desflurane.

BACKGROUND AND OBJECTIVES: The aim of this prospective, randomized, double-blind study was to determine the effects of adding two different target-controlled concentrations of remifentanil (1 and 3 ng mL(-1)) on the desflurane requirement for blunting sympathetic responses after surgical incision (minimum anaesthetic concentration (MAC(BAR)). METHODS: 67 patients, aged 20-50 yr, ASA I, undergoing general anaesthesia for elective abdominal surgery were enrolled and randomly allocated to receive no remifentanil infusion (n = 21) or a target-controlled effect-site concentration of 1 ng mL(-1) (n = 24) or 3 ng mL(-1) remifentanil (n = 22). All patients were anaesthetized with propofol, cisatracurium and desflurane with a mixture of 60% nitrous oxide in oxygen. Sympathetic responses to surgical incision were determined after a 20-min period of stable end-tidal desflurane and target-controlled remifentanil concentrations. Predetermined end-tidal desflurane concentrations and the MAC(BAR) for each group were determined using an up-and-down sequential-allocation technique. RESULTS: The MAC(BAR) of desflurane was higher in the group receiving no remifentanil (6.25% [95% confidence interval: 5.9-6.5%]) as compared with patients of the groups receiving 1 ng mL(-1) (2.7% [2.6-2.8%]; P < 0.001) and 3 ng mL(-1) remifentanil (2% [1.9-2.2%]; P < 0.01). When considering a MAC value in this age population and the contribution of 60% nitrous oxide (0.55 MAC), the combined MAC(BAR) values, expressed as multiples of the MAC, were 1.9, 0.8 and 0.6 MAC, in the three groups, respectively. CONCLUSION: A target-controlled concentration of 1 ng mL(-1) remifentanil results in a 57% decrease in the MAC(BAR) of desflurane combined with 60% nitrous oxide. Increasing the target concentration of remifentanil to 3 ng mL(-1) produces a further 26% decrease in the MAC(BAR) values of desflurane.

Abdomen↗
PubMed2006

Tahini, a little known sesame-containing food, as an unexpected cause of severe allergic reaction.

We describe the case of a young woman with asthma and confirmed food allergy to sesame who had 2 severe systemic reactions after the inadvertent ingestion of tahini, a paste made with ground sesame seeds that is not generally known by physicians and patients as a sesame-containing food. A double-blind placebo-controlled food challenge confirmed the allergy to tahini in our patient. As new products and recipes are being introduced from around the world on a regular basis, it is essential that at-risk patients are able to obtain information about allergens used as ingredients and as potential contaminants. This should be applied not only to packaged food but also to freshly made foods, such as those served in restaurants.

Adult↗
PubMed2005

A recursive-partitioning model for blood-brain barrier permeation.

A series of bagged recursive partitioning models for log(BB) is presented. Using a LGO-CV, three sets of physical property descriptors are evaluated and found to have Q2 values of 0.51 (CPSA), 0.53 (Ro5x) and 0.53 (MOE). Extrapolating these models to Pfizer chemical space is difficult due to P-glycoprotein (P-gp) mediated efflux. Low correlation coefficients for this test set are improved (R2 = 0.39) when compounds known to be P-gp substrates or statistical extrapolations are removed. The use of simple linear models for specific chemical series is also found to improve the correlation over a limited chemical space.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed2005

The effect of adding nitrous oxide on MAC of sevoflurane combined with two target-controlled concentrations of remifentanil in women.

BACKGROUND AND OBJECTIVE: The aim of this prospective, randomized, double-blind study was to determine the effects of adding nitrous oxide on sevoflurane requirement for blunting sympathetic responses after surgical incision combined with two different target-controlled concentrations of remifentanil (1 and 3 ng mL(-1)) in female. METHODS: 102 female patients, aged 20-50 yr, ASA I, undergoing general anaesthesia for elective abdominal surgery were enrolled and randomly allocated to receive sevoflurane anaesthesia alone (Group A, n=53), or with the addition of 60% nitrous oxide (Group N, n=49). Patients of both groups were further assigned to receive a target-controlled remifentanil infusion with an effect-site concentration of either 1 ng mL(-1) (Group N1, n=27; Group A1, n=30), or 3 ng mL(-1) (Group N3, n=22; Group A3, n=23). Sympathetic responses to surgical incision were determined after a 20-min period of stable end-tidal sevoflurane and target-controlled remifentanil concentrations. Predetermined end-tidal sevoflurane concentrations and minimum alveolar concentration (MAC) for each group were determined using an up-and-down sequential allocation technique. RESULTS: The MAC of sevoflurane was 3.96% (95% confidence interval, CI95: 3.69-4.23%) in Group A1 and 1.2% (CI95: 0.9-1.3%) in Group N1 (P < 0.01), while in Groups A3 and N3 the MAC of sevoflurane was 0.36% (CI95: 0.24-0.47%) and 0.18% (CI95: 0.1-0.3%), respectively (P < 0.05). CONCLUSION: Adding 60% nitrous oxide reduces the MAC of sevoflurane by 70% when using a remifentanil concentration of 1 ng mL(-1) and 50% when using a remifentanil concentration of 3 ng mL(-1).

Adult↗
PubMed2005

The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation.

Amyotrophic lateral sclerosis (ALS) is caused by mutations in the gene for Cu/Zn superoxide dismutase (SOD1) in 10% of familial and sporadic cases. During the SOD1 analysis of 9 FALS and 121 SALS, in only one sporadic case we found the exonic mutation N19S; in 15 SALS patients we found a 319t>a variation in IVS1 sequence, at 108 bp upstream from exon 2. This variation has an unusually high frequency of 11% and is always in linkage disequilibrium with a described polymorphism in IVS3, +34a>c. The 319t>a variation is classified in two different public databases, HGMD and The ALS Online Database, as a splicing mutation and not as a polymorphism. The unusually high frequency of this mutation in our patients prompted us to determinate its frequency in 130 age- and gender- matched healthy controls and in 54 patients with Alzheimer's disease. We found again linkage disequilibrium with the polymorphism in intron 3, and the frequency of 11% and 7.8%, respectively. These results strongly support the idea that the IVS1 +319 t>a alone is not an ALS causing mutation, and that special care must be taken in the interpretation of data from mutations databases for correct genetic counselling.

Aged↗
PubMed2005

An Anopheles gambiae salivary gland promoter analysis in Drosophila melanogaster and Anopheles stephensi.

Regulatory regions driving gene expression in specific target organs of the African malaria vector Anopheles gambiae are of critical relevance for studies on Plasmodium-Anopheles interactions as well as to devise strategies for blocking malaria parasite development in the mosquito. In order to identify an appropriate salivary gland promoter we analysed the transactivation properties of genomic fragments located just upstream of the An. gambiae female salivary gland-specific genes AgApy and D7r4. An 800 bp fragment from the AgApy gene directed specific expression of the LacZ reporter gene in the salivary glands of transgenic Anopheles stephensi. However, expression levels were lower than expected and the transgene was expressed in the proximal-rather than in the distal-lateral lobes of female glands. Surprisingly, a promoter fragment from the D7r4 gene conferred strong tissue-specific expression in Drosophila melanogaster but only low transcription levels in transgenic An. stephensi. These results imply a certain conservation of gland-specific control elements between the fruit fly and the mosquito suggesting that an increased degree of complexity, probably connected to the evolution of haematophagy, underlies the regulation of tissue-specific expression in mosquito female salivary glands.

Animals↗
PubMed2005

Diagnosing erectile dysfunction: instruments for endocrine diagnosis.

Endocrine factors represent an important and potentially treatable cause of sexual dysfunction. The availability of a correct endocrinological diagnosis allows correct identification of most cases of sexual dysfunction in which the endocrine apparatus is involved. Not only the most frequent causes of endocrine sexual dysfunction, such as hypogonadism and hyperprolactinaemia, but almost all extra-gonadal endocrinopathies (hyper-and hypothyroidism, hyper- and hypocortisolism, steroidal secreting tumours, etc.) may have importance to a greater or lesser extent in sexual function. It is, therefore, necessary that the diagnostic process for sexual dysfunctions of an endocrine nature be as integrated and wide as possible, especially as such pathologies are normally extremely responsive to medical or surgical therapy.

Diagnostic Techniques, Endocrine↗
PubMed2005

The therapeutic dilemma: how to use tadalafil.

Tadalafil, a type 5 phosphodiesterase inhibitor, is a new and effective therapy for erectile dysfunction. It has unique pharmacokinetic properties in its drug class, which also includes sildenafil and vardenafil. It is also well tolerated with few side-effects, and can be used in difficult patients such as neuropaths or diabetics.

Carbolines↗
PubMed2005

Correlation between ejaculatory and erectile dysfunction.

Summary Premature ejaculation (PE) and erectile dysfunction (ED) are different sexological issues. However, they have many little-known links. PE is the most common male sexual dysfunction, but ED is undoubtedly the most common reason that medical help is sought. As a consequence, PE is largely under-diagnosed and under-treated, while ED has received great scientific and clinical attention in recent years. There are plenty of reasons for this: (i) PE is classically considered as psychogenic in nature; (ii) it is traditionally treated with behavioural psychotherapies; (iii) clear and accepted clinical definition(s) are lacking; (iv) the aetiologies are largely unknown; (v) the pathogenesis is still obscure - there is a lack of awareness and acknowledgement of PE as a symptom of medical disease; (vi) lacking a medical presence in the field and requests for help from patients are low. Finally, erectile dysfunctions (ED) and ejaculatory dysfunctions frequently overlap. The aim of this review article is to propose a new taxonomy of PE, which considers ED as an important factor of PE and vice versa.

Ejaculation↗
PubMed2005

Androgens and fertility.

Androgens play a pivotal role in the development of the male reproductive tract. The spermatogenesis requires high levels of intratesticular testosterone secreted by the Leydig cells. Testosterone exerts its action through the androgen receptor (AR), which is located both in the cytoplasm and in the nucleus of cells in the target tissue. Severe defects of the AR may result in abnormal male sexual development, while more subtle modifications can be a potential cause of male infertility. Low circulating levels of testosterone can be found in 20-30% of infertile men, but administration of testosterone or gonadotropins does not result in improved sperm production. Abuse of anabolic steroids is a frequent cause of male infertility, and substances such as endocrine disruptors can alter male fertility through an anti androgenic action.

Aged↗
PubMed2005

Psychosocial issues of ART in aging male.

The role of androgens in human sexuality as regards the mechanism of erection and the pathogenesis of impotence is under debate. In addition, it is difficult to define the psychosocial impact of both hypogonadism and androgen replacement. However, sexual hormones largely influence mood, well-being, and quality of life. For this reason, despite the methodological difficulties of assessment, testosterone replacement has a deep impact on the social, psychological and sexual life of the treated patient. Considering the obvious characteristic of testosterone as an hormone, it appears evident that the endocrinologist is the unique experienced specialist able to diagnose and treat the hypogonadal men, monitoring potential side effects and following the psychosocial issues of androgen therapy.

Aged↗
PubMed2004

Full-term pregnancies achieved with ICSI despite high levels of sperm chromatin damage.

BACKGROUND: Sperm DNA integrity is essential for the accurate transmission of genetic information. The clinical significance of this assessment lies in its association with not only natural conception rates, but also the success of assisted reproduction technology (ART). It has been reported that sperm chromatin structure assay (SCSA) identified thresholds for negative pregnancy outcome after ART when the DNA fragmentation index (DFI), previously known as COMPalphat, was >30%. METHODS: In a prospective clinical study, we examined 34 male infertile patients, the husbands of women undergoing conventional IVF or ICSI. SCSA and ART were carried out on semen aliquots taken from the same ejaculate. Fertilization rate, embryo quality and pregnancy rates were correlated to SCSA parameters, DFI and highly DNA stainable (HDS) cells. RESULTS: No differences were seen in SCSA parameter values between patients initiating pregnancies and not doing so in either ICSI or conventional IVF. Pregnancies and normal delivery were obtained even with high levels of DFI. CONCLUSIONS: There is still controversy over whether analytical techniques currently in use are able to identify the level of damage to spermatozoa. Large-scale studies should be conducted in different clinical settings to determine the effects of sperm DNA damage on the outcome of ART.

Adult↗
PubMed2004

Might erectile dysfunction be due to the thermolabile variant of methylenetetrahydrofolate reductase?

Hyperhomocysteinemia is considered one of the most important cardiovascular risk factors increasing considerably the risk of stroke and myocardial infarction. With respect to endothelial function, direct effects of hyperhomocysteinemia on vascular endothelial cells have been demonstrated through the reduction of endothelial nitric oxide production. In this paper, we report the case of a young man with homozygote genotype mutated with 5-methylenetetrahydrofolate reductase (MTHFR) thermolabile variant who, in the absence of relational stress, developed an erectile dysfunction (ED) refractory to the vasoactive type-V phosphodiesterase (PDE5) inhibitor therapy. After one month of treatment with 5 mg/day folic acid and 1000 microg/day cyanocobalamin, the patient restarted the assumption of 50 mg sildenafil, obtaining satisfying erections during sexual intercourse. We suggest that hyperhomocysteinemia may interfere with penile blood supply and, thus, be responsible for ED. If this relationship is confirmed, plasma levels and urinary homocysteine (HCy) should be evaluated in selected young patients with vascular ED. Furthermore, careful attention should be given to the risk of ED when dealing with this metabolic disturbance.

Adult↗
PubMed2004

Intestinal anisakiasis in Italy: case report.

A case of intestinal anisakiasis caused by Anisakis sp. larva type I in a woman from Italy who consumed raw marinated anchovies, is reported. The diagnosis was based on the morphological features characteristic of anisakid larval stages, which were readily recognized in a large granuloma removed after emergency surgical treatment.

Adult↗
PubMed2004

Hemolytic crisis in a non-ketotic and euglycemic child with glucose-6-phosphate dehydrogenase deficiency and onset of type 1 diabetes mellitus.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy and hemolytic anemia can be triggered by many drugs, by the ingestion of fava beans, and by metabolic imbalances. Nonetheless, only sporadic reports of hemolytic anemia due to G6PD deficiency in patients with type 1 diabetes mellitus (DM1) have been reported to date. We describe an 8 year-old Sicilian boy who suffered from hemolytic anemia some days after admission for DM1. On admission, acid-base equilibrium was normal but 4 days later he presented hemolytic anemia with G6PD deficiency, confirmed by personal and family history and laboratory evaluation. We suggest that the hemolytic crisis in this patient was triggered by the relative hypoglycemia that followed insulin administration. The interference of acidosis, infections, drugs, food or other triggering agents was excluded. This report demonstrates that hemolysis may represent a possible complication of DM treatment in patients with G6PD deficiency and we recommend careful clinical surveillance in these patients.

Anemia, Hemolytic↗