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Biomedical subjects

Giuseppe Bifulco

Publications and source records attributed to Giuseppe Bifulco.

At least 19 recordsLinked to original sources
PubMed2026

Genomic Sequencing in Neonatal Encephalopathy and Suspected Hypoxic-Ischaemic Encephalopathy: A Systematic Review.

BACKGROUND: Neonatal encephalopathy (NE) is a major cause of neonatal mortality and long-term neurological disability. Although hypoxic-ischaemic encephalopathy (HIE) is the most common cause, several genetic disorders may mimic or coexist with hypoxic-ischaemic injury. Next-generation sequencing has emerged as a promising diagnostic tool in this setting. This systematic review evaluated the current evidence on genomic sequencing in NE. MATERIAL AND METHODS: A systematic review was conducted according to PRISMA 2020 guidelines and prospectively registered in PROSPERO. PubMed/MEDLINE, Embase, and Scopus were searched from inception to June 2026. Eligible studies included neonates (≤28 days) with NE, suspected or confirmed HIE, HIE mimics, or unexplained NE who underwent genomic sequencing. Whole-exome sequencing (WES), whole-genome sequencing (WGS), clinical exome sequencing (CES), rapid genomic sequencing, and targeted next-generation sequencing panels were considered. Study quality was assessed using the Newcastle-Ottawa Scale. RESULTS: Seven studies met the inclusion criteria. Considerable heterogeneity was observed regarding patient selection, sequencing strategies, and reported outcomes. Among diagnostic sequencing studies, diagnostic yield ranged from 23.5% to 53.1%. Pathogenic and likely pathogenic variants were identified in genes associated with developmental and epileptic encephalopathies, metabolic disorders, mitochondrial diseases, and neurodevelopmental syndromes, including SCN2A, KCNQ2, CACNA1A, STXBP1, PTPN11, BCOR, MMUT, COQ2, and GBE1. Genomic sequencing frequently refined or changed the initial diagnosis, improved prognostic assessment and genetic counselling, and, in selected cases, guided disease-specific treatment. One study investigated genetic susceptibility to hypoxic-ischaemic injury rather than diagnostic sequencing. CONCLUSIONS: Genomic sequencing provides clinically meaningful diagnoses in a substantial proportion of neonates with unexplained NE or atypical HIE presentations. Current evidence supports integrating genomic sequencing into the diagnostic evaluation of selected infants, although larger prospective studies are needed to define its optimal timing, clinical utility, and cost-effectiveness.

Humans↗
PubMed2006

Use of office hysteroscopy to empty a very large hematometra in a young virgin patient with mosaic Turner's syndrome.

OBJECTIVE: To describe the successful management of a hematometra using a 5-mm continuous flow operative office hysteroscope. DESIGN: Case report. SETTING: University of Naples "Federico II." PATIENT(S): A 13-year-old virgin patient affected by mosaic Turner's syndrome (45 X; 46 XX) was referred to the emergency room of the Department of Obstetrics and Gynecology after an episode of severe pelvic pain with metrorrhagia. A large hematometra was detected by transabdominal ultrasound scanning. INTERVENTION(S): Vaginoscopic hysteroscopy performed in outpatient setting. MAIN OUTCOME MEASURE(S): Complete resolution of the hematometra and related clinical symptoms. RESULT(S): Vaginoscopic approach avoided general anesthesia and preserved the integrity of her hymen. A chocolate-like fluid started to spill out from the uterine cavity as soon as the tip of hysteroscope passed through the internal uterine ostium. A transabdominal ultrasound performed 2 days later showed resolution of the hematometra. Success of the procedure was confirmed by the resolution of all clinical symptoms. CONCLUSION(S): In selected cases, with intact outflow tract, outpatient vaginoscopic hysteroscopy might represent the therapeutic technique of choice in case of hematometra, even in the case of virgin patients.

Adolescent↗
PubMed2006

Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?

BACKGROUND: Leiomyomatosis peritonealis disseminata (LPD) is a rare disease in which multiple smooth muscle or smooth muscle-like nodules develop subperitoneally in any part of the abdominal cavity. No reports of multiple congenital malformations associated with LPD have been found in the English literature. CASE PRESENTATION: A 27 year-old patient referred to our gynaecology unit for pelvic pain, amenorrhoea, stress incontinence, chronic constipation and recurrent intestinal and urinary infections. Multiple congenital malformations had previously been diagnosed. Most of these had required surgical treatment in her early life: anorectal malformation with rectovestibular fistula, ectopic right ureteral orifice, megadolichoureter and hemisacrum. An ultrasound scan and computed tomography performed in our department showed an irregular, polylobate, complex 20 cm mass originating from the right pelvis that reached the right hypochondrium and the epigastrium. The patient underwent laparotomy. The three largest abdominal-pelvic masses and multiple independent nodules within the peritoneum were progressively removed. The histological diagnosis was of LPD. CONCLUSION: The case we report is distinctive in that a rare acquired disease, LPD, coexists with multiple congenital malformations recalling a particular subgroup of caudal regression syndrome: the Currarino syndrome.

Abnormalities, Multiple↗
PubMed2006

On the role of stereo-electronic effects in tuning the selectivity and rate of DNA alkylation by duocarmycins.

The role of local geometric and stereo-electronic effects in tuning the alkylation of DNA by duocarmycins has been analyzed by an integrated computational tool rooted in the density functional theory and the polarizable continuum model. Our study points out that together with steric accessibility, different electronic delocalisations also contribute to determine the higher reactivity of adenine with respect to guanine. Also the effect of the methyl ester group on the alkylating agent has an electronic origin. Furthermore, deviations from the planarity in the drug structure (conformational catalysis) could be less important than currently accepted since, according to our computations, compounds with strongly different reactivity have nearly constant and very similar out of plane distortions before and after the reaction. Model computations suggest, instead, that specific non covalent interactions could discriminate between different drugs selectively reducing some activation energies with respect to the corresponding processes in solution.

Adenine↗
PubMed2006

Inhibitory effect of HIV-1 Tat protein on the sodium-D-glucose symporter of human intestinal epithelial cells.

OBJECTIVE: The pathophysiology of HIV-1-related intestinal dysfunction is largely unknown. We previously found that the transactivator factor peptide (Tat) produced by HIV-1 induces ion secretion and inhibits cell proliferation in human enterocytes. Because sugar malabsorption is a frequent feature in AIDS patients, we evaluated whether Tat inhibits intestinal glucose absorption. DESIGN AND METHODS: We measured Na-D-glucose symporter (SGLT-1) activity and determined its phenotypic expression in Caco-2 cells, in the presence and absence of Tat, in uptake experiments using a non-metabolized radiolabelled glucose analogue, and by western blot analysis, respectively. alpha-Tubulin staining was used to study the effects exerted by Tat on cell structure. RESULTS: Tat dose dependently inhibited glucose uptake by human enterocytes. This effect was prevented by anti-Tat polyclonal antibodies and by L-type Ca channels agonist Bay K8644. Western blot analysis of cellular lysates and brush-border membrane preparations showed that Tat induced SGLT-1 missorting. Tat also caused a dramatic decrease in alpha-tubulin staining, which indicates dysruption of the cytoskeleton organization. CONCLUSIONS: Tat acutely impairs intestinal glucose absorption through SGLT-1 missorting. This result indicates that Tat is directly involved in AIDS-associated intestinal dysfunction.

3-Pyridinecarboxylic acid, 1,4-dihydro-2,6-dimethy↗
PubMed2006

Synthesis, conformational analysis and CB1 binding affinity of hairpin-like anandamide pseudopeptide mimetics.

We have designed, synthesized and evaluated the CB(1) binding affinity of a number of new conformationally restricted lipopeptides (1-17). All of them present some of the AEA key structural elements incorporated in a hairpinlike peptide framework. Among them, compounds 1-3 and 8 showed CB(1) affinities in competitive binding assays with K(i) values in the micromolar range (K(i) of AEA = 0.8 microM in the same assay). The remaining pseudopeptides showed little binding to the CB(1) receptor (with K(i) values >or= 50 microM). Conformational analysis on two representative compounds, performed by a combination of NMR studies, restrained molecular dynamics and QM calculations, allowed us to shed light on the structure-activity relationships (SAR), pointing to a correlation between the predominance of the hairpin-like structural motif and the CB(1) binding affinity. In a more general context, the present study may also prove useful in gaining additional insight into the biological relevance of the various AEA conformations.

Amino Acid Sequence↗
PubMed2006

Do serum leptin levels have a role in the prediction of pregnancy outcome in case of threatened miscarriage?

OBJECTIVE: To determine whether maternal serum leptin levels can predict pregnancy outcome in cases of threatened miscarriage. DESIGN: Observational study. PATIENTS: Fifty-seven women with normal pregnancy (group A), 19 women with threatened miscarriage who delivered at term (group B), 22 women with threatened miscarriage with subsequent miscarriage (group C) and 27 women with delayed miscarriage (group D). MEASUREMENTS: Maternal serum leptin was determined using a commercial radioimmunoassay (RIA) kit. RESULTS: Serum leptin levels were not significantly different among groups A, B and C [median (range) 17.6 (10.1-26.5), 18.2 (12.5-25.6) and 17.3 (11.2-27.6) microg/l, respectively]. Women in group D showed significantly lower serum leptin levels in comparison with other groups [14 (6.7-21.3) microg/l; P < 0.05]. CONCLUSIONS: Serum leptin levels in the first trimester of pregnancy may not be the primary indicator of miscarriage in cases of threatened abortion.

Abortion, Spontaneous↗
PubMed2005

Quantum mechanical calculations of conformationally relevant 1H and 13C NMR chemical shifts of calixarene systems.

[graphs: see text] QM GIAO calculations of 13C and 1H chemical shift values of the ArCH2Ar group have been performed, using the hybrid DFT functional MPW1PW91 and the 6-31G(d,p) basis set, on some representative calixarenes and on a series of simplified calixarene models allowing derivation of chemical shift surfaces versus phi and chi dihedral angles. A good reproduction of experimental data was obtained. The applicability of chemical shift surfaces in the study of calixarene conformational features is illustrated.

Journal Article↗
PubMed2005

Synthesis, solution structure, and bioactivity of six new simplified analogues of the natural cyclodepsipeptide jaspamide.

Recently, we described the synthesis and the biological evaluation of three modified analogues of jaspamide (1), a natural cyclodepsipeptide possessing a potent antitumor activity as a consequence of its ability to interfere with actin cytoskeleton. To obtain additional information on the potential pharmacophoric core of the target molecule, which is of fundamental importance to discover new and more effective anticancer products, we decided to explore the biological effects of further structural modifications carried out on the parent molecule. The synthesis and the chemical characterization of six jaspamide analogues (2-7) are reported and their conformational and biological properties are described.

Antineoplastic Agents↗
PubMed2005

Increased cyclooxygenase-2 expression is associated with better clinical outcome in patients submitted to complete ablation for severe endometriosis.

BACKGROUND: Recent studies have demonstrated the overexpression of cyclooxygenase-2 (COX-2) in endometriosis. The aim of this study was to investigate the correlation between COX-2 expression and the clinical outcome rate in a homogeneous series of patients undergoing fertility-sparing complete laparoscopic ablation for severe endometriosis. METHODS: COX-2 expression was analysed by immunohistochemistry in 103 samples, 71 endometriomas (group 1) and 32 peritoneal implants and or recto-vaginal nodules (group 2) of endometriotic tissue from 85 patients submitted to complete laparoscopic ablation of severe endometriosis. RESULTS: At median follow-up of 54 months, a recurrence rate of 24.7% (n = 21) was observed. Patients with COX-2-positive endometriotic cysts showed a lower relapse rate than COX-2-negative cases (16.7 versus 41.2%; P = 0.036). Patients with COX-2-positive peritoneal implant and or recto-vaginal nodule showed a similar trend. Taking the two groups of patients together, we found a significantly lower relapse rate in COX-2-positive patients in comparison to COX-2-negative patients (16.4 versus 40%; P = 0.0152). Moreover, COX-2-positive patients showed a longer relapse-free survival in comparison to COX-2-negative patients (P = 0.016). CONCLUSIONS: In patients with severe endometriosis who underwent fertility-sparing complete ablation, COX-2 overexpression characterizes a subgroup of patients with lower risk of relapse and longer relapse-free survival.

Adult↗
PubMed2005

Advances in the universal NMR database approach. 2'-substituted taxanes as probes for an improved protocol of diastereomeric differentiation.

[structure: see text] The configuration of the alpha-substituted alpha-hydroxy-beta-aminoester moiety in a series of 2'-substituted taxanes was analyzed according to the recently proposed Universal NMR Database (UDB) approach. A critical analysis of the results showed that modifications regarding chemical shift adjustment (so as to render the shifts virtually connectivity independent) were necessary to get consistent stereoassignments in this set of compounds. On this basis, a modified UDB-based strategy, especially tailored to the configurational assignment of densely substituted diastereomeric fragments, is proposed.

Databases, Factual↗
PubMed2005

Role of laparoscopy to assess the chance of optimal cytoreductive surgery in advanced ovarian cancer: a pilot study.

OBJECTIVE: To investigate whether laparoscopy can be considered as adequate and reliable as standard laparotomy in predicting optimal cytoreduction (RT < or = 1 cm) in patients with advanced ovarian cancer. METHODS: From March to November 2003, 95 patients with suspected advanced ovarian or peritoneal cancer have been evaluated. Thirty-one cases were excluded due to an anesthesiological class of risk ASA III-IV (51.6%) and for the presence of a large size mass reaching the xiphoid (48.4%). Sixty-four patients completed the study. All patients were submitted to preoperative clinico-radiological evaluation and then to both laparoscopy and standard longitudinal laparotomy, sequentially. Some specific preoperatively defined parameters were analyzed during each procedure in order to obtain the most accurate evaluation on the possibility to get an optimal cytoreduction. RESULTS: The overall accuracy rate of laparoscopy in assessing optimal cytoreduction was 90%. The negative predictive value (NPV) of the clinical-radiologic evaluation corresponded to 73%, whereas in no case was the judgment of unresectable disease obtained by laparoscopy changed by the laparotomic approach (NPV 100%). On the contrary, an optimal debulking was achievable in 34 of 39 cases (87%) selected as completely resectable by explorative laparoscopy. CONCLUSIONS: Laparoscopy can be considered super imposable to standard longitudinal laparotomy in identifying not optimally resectable advanced ovarian cancer patients.

Female↗
PubMed2004

Reduced bone mass detected by bone quantitative ultrasonometry and DEXA in pre- and postmenopausal women with endogenous subclinical hyperthyroidism.

BACKGROUND: Although overt hyperthyroidism is a well known cause of bone loss, systemic effects of subclinical hyperthyroidism (SH) are still a matter of debate. OBJECTIVE: The aim of this cross-sectional study was to evaluate the effect of endogenous SH on bone in relation to the menopausal status. METHODS: Bone mass and turnover were assessed in a group of 60 patients with endogenous SH due to multinodular goitre; 30 of them were premenopausal and 30 early postmenopausal (mean age, 40.9 +/- 7.3 and 57.7 +/- 6.75, respectively). Sixty healthy women matched for age-, BMI- and menopausal status served as controls. Three different skeletal sites were evaluated using two different techniques: lumbar spine and femoral neck were assessed by DEXA whereas the proximal phalanges were evaluated by quantitative ultrasonometry (QUS), measuring the amplitude-dependent speed of sound (Ad-SoS). Serum osteocalcin and urinary deoxypyridinoline (DPD) were also determined as markers of bone turnover. RESULTS: A significant decrease was found in femoral BMD (P < 0.05) and phalangeal Ad-SoS (P < 0.001) in pre- and postmenopausal patients compared to controls, being greater in those postmenopausal. Lumbar BMD was decreased only in postmenopausal patients (P < 0.05). Bone turnover markers were higher in patients than in controls and in post- than in the premenopausal ones. A significant negative correlation was found between femoral BMD, Ad-SoS and serum free T3 levels, the latter considered a marker of disease activity. CONCLUSIONS: A significant increase in bone turnover markers and a decrease in bone mass was found in women affected by endogenous SH, being greater in early postmenopausal patients. Cortical rich bone was mainly affected. Both QUS and the conventional DEXA technique were equally able to determine bone density decrease related to mild thyroid hormone excess and sexual hormone decrease.

Absorptiometry, Photon↗
PubMed2004

A prospective randomized study of laparoscopy and minilaparotomy in the management of benign adnexal masses.

BACKGROUND: Recent prospective and randomized studies have demonstrated that laparoscopy is better than laparotomy in the treatment of benign adnexal masses. The aim of this study is to analyse the perioperative outcomes of laparoscopy and minilaparotomy in these patients, in a prospective and randomized manner. METHODS: Between January 2003 and August 2003, 100 consecutive women with a diagnosis of presumed benign adnexal mass and requiring surgical treatment were randomly assigned to minilaparotomy and laparoscopy. Randomization was centralized and computer-based. RESULTS: All operative procedures were performed without conversion to laparotomy. In the group of patients submitted to minilaparotomy, a shorter operating time than patients submitted to operative laparoscopy (mean+/-SD: 71.9+/-31.8 versus 87.0+/-44.8 min; P<0.05) was found. On the other hand, there were significant differences in terms of postoperative ileus (1.1+/-0.4 days in laparoscopy and 1.4+/-0.6 in minilaparotomy P<0.023), without affecting the day of discharge. No intraoperative or early complications were registered in either group. CONCLUSIONS: Taking into account that laparoscopy has to be considered the first choice for benign adnexal surgery, our data suggest that minilaparotomy could offer the gynaecology surgeon a valid alternative in the minimally invasive surgery field, especially in specific settings.

Adnexal Diseases↗