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Maurizio Guida

Publications and source records attributed to Maurizio Guida.

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

A crash-prediction model for multilane roads.

Considerable research has been carried out in recent years to establish relationships between crashes and traffic flow, geometric infrastructure characteristics and environmental factors for two-lane rural roads. Crash-prediction models focused on multilane rural roads, however, have rarely been investigated. In addition, most research has paid but little attention to the safety effects of variables such as stopping sight distance and pavement surface characteristics. Moreover, the statistical approaches have generally included Poisson and Negative Binomial regression models, whilst Negative Multinomial regression model has been used to a lesser extent. Finally, as far as the authors are aware, prediction models involving all the above-mentioned factors have still not been developed in Italy for multilane roads, such as motorways. Thus, in this paper crash-prediction models for a four-lane median-divided Italian motorway were set up on the basis of accident data observed during a 5-year monitoring period extending between 1999 and 2003. The Poisson, Negative Binomial and Negative Multinomial regression models, applied separately to tangents and curves, were used to model the frequency of accident occurrence. Model parameters were estimated by the Maximum Likelihood Method, and the Generalized Likelihood Ratio Test was applied to detect the significant variables to be included in the model equation. Goodness-of-fit was measured by means of both the explained fraction of total variation and the explained fraction of systematic variation. The Cumulative Residuals Method was also used to test the adequacy of a regression model throughout the range of each variable. The candidate set of explanatory variables was: length (L), curvature (1/R), annual average daily traffic (AADT), sight distance (SD), side friction coefficient (SFC), longitudinal slope (LS) and the presence of a junction (J). Separate prediction models for total crashes and for fatal and injury crashes only were considered. For curves it is shown that significant variables are L, 1/R and AADT, whereas for tangents they are L, AADT and junctions. The effect of rain precipitation was analysed on the basis of hourly rainfall data and assumptions about drying time. It is shown that a wet pavement significantly increases the number of crashes. The models developed in this paper for Italian motorways appear to be useful for many applications such as the detection of critical factors, the estimation of accident reduction due to infrastructure and pavement improvement, and the predictions of accidents counts when comparing different design options. Thus this research may represent a point of reference for engineers in adjusting or designing multilane roads.

Accidents, Traffic↗
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

Endocervical metaplasia of the endometrium in a patient with cystic fibrosis: a case report.

OBJECTIVE: To report the case of an infertile female patient with cystic fibrosis who was diagnosed with endocervical metaplasia of the endometrium at diagnostic hysteroscopy and successfully treated with an oral estroprogestinic formulation. DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 27-year-old infertile female patient with cystic fibrosis. INTERVENTION(S): Hysteroscopy with multiple random biopsies was performed at the time of the first visit and after a 10-month cycle with an oral estroprogestinic formulation. MAIN OUTCOME MEASURE(S): Hysteroscopic evaluation with target biopsy; histological examinations of endometrial specimens. RESULT(S): Our patient benefited from a 10-month cycle with an oral estroprogestinic formulation. At the control visit we noticed a significant improvement in the hysteroscopic appearance of her endometrium, and the histological examination confirmed the complete reversion of the metaplastic alterations previously observed. CONCLUSION(S): The present report suggests a novel histological alteration possibly involved in affecting fertility in women with cystic fibrosis. In addition, the positive response to the estroprogestinic treatment observed in our patient poses new questions regarding the relationship between ovarian hormones and cystic fibrosis transmembrane conductance regulator protein regulation, offering interesting perspectives for a hormonal therapy in the treatment of subfertility in women with cystic fibrosis.

Administration, Oral↗
PubMed2006

Favorable outcome of cochlear implant in VIIIth nerve deficiency.

OBJECTIVE: To report on the outcomes of cochlear implantation (CI) in a child with cochleovestibular nerves (CVN) hypoplasia. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center, University hospital. PATIENTS: An 18-month-old child with profound bilateral congenital hearing loss and bilateral hypoplasia of the CVN at imaging. INTERVENTION: Left CI at age 29 months with a Nucleus Contour device (Cochlear Ltd., Lane Cove, New South Wales, Australia) after unsatisfactory results of hearing aid use for 10 months. MAIN OUTCOME MEASURES: Speech perception tests, behavioral observation, electrophysiologic tests, and cognitive evaluation. RESULTS: Although the child scores poorly in every perceptive category with the CI alone, the device greatly enhances his speech understanding with the hearing aid in the opposite ear. In the bimodal condition, his words and sentences identification, recognition, and comprehension far exceed the monaural figures. The Meaningful Auditory Integration Scale (MAIS) tests reaches a score of 26/40, and the MacArthur's questionnaires confirm the improvement of language production and comprehension. These results became noticeable after 5 to 6 months and continued to improve up to the 10th month. The child's cognitive scores and overall performance competences greatly benefit from the CI, with the mental age overcoming the chronological age. CONCLUSION: We can confirm the chance of achieving satisfactory results by CI even when the imaging of CVN is doubtful and the electrophysiological tests are disappointing. In our experience, a CI in Type IIb dysplasia of the CVN is a feasible option, provided that the candidate shows some responses at aided audiogram and at least minimal signs of language development. Adequate counseling is necessary for these children because the expected outcome is somewhat lower than that of their deaf peers with normal appearance of the nerves.

Audiometry, Pure-Tone↗
PubMed2006

Auditory brainstem implant in a child with severely ossified cochlea.

OBJECTIVE: The hearing outcome after implanting a severely ossified cochlea has always been less satisfactory than implanting a patent one. The aim of our study is to present a case where brainstem implantation was successfully performed as an alternative to cochlear implantation in a child with bilateral severe ossification of the cochlea. STUDY DESIGN: Case presentation. This study was conducted at Gruppo Otologico, Rome, Italy, a private referral center for neurotology and skull base surgery. METHODS: The subject of our study was a 12-year-old female child with postmeningitic deafness and bilaterally ossified cochleae. This case is the first brainstem implantation performed at our center with the indication of severe ossification of the cochlea. RESULTS: Successful brainstem implantation of a device was carried out, and the hearing of the patient was restored to the degree that she can freely use the telephone after 8 months of implantation. CONCLUSION: Although more cases are needed before establishing the exact outcome of brainstem implantation in cases of deafness in the presence of severe bilateral cochlear ossification, preliminary results show the superiority of brainstem implants to conventional or even customized cochlear implants.

Auditory Brain Stem Implants↗
PubMed2005

Bleeding patterns during continuous estradiol with different sequential progestogens therapy.

OBJECTIVE: : To evaluate the effects on monthly bleeding of four different progestogens administered in association with transdermal estradiol in a continuous sequential estrogen-progestin therapy (CS-EPT). DESIGN: : This prospective, open, randomized, clinical trial included 100 healthy postmenopausal women. Patients were randomized into four treatment groups, each consisting of 25 women. Treatment consisted of 50 mug/day transdermal 17beta-estradiol for all women combined to receive four different progestogens (group A: medroxyprogesterone acetate, 10 mg/day; group B: nomegestrol acetate, 5 mg/day; group C: dydrogesterone, 10 mg/day; group D: micronized progesterone, 200 mg/day) per os from the 14th to 25th day of each 28-day cycle. The duration of treatment was 12 cycles. Patients were asked to record in a daily diary the occurrence of any vaginal bleeding, the days of application of each patch, the days of assumption of the different progestogens, and the exact moment of bleeding onset. RESULTS: : A total of 937 cycles could be evaluated. In 690 cycles (73.6%), regular progestogen-related bleeding was reported. Among the other cycles, we observed 73 episodes of amenorrhea (7.8%, each one lasting one cycle), 78 episodes of irregular bleeding (8.3%), and 96 episodes of spotting (10.2%). Patients receiving nomegestrol acetate had a significantly higher incidence of regular progestogen-associated bleeding in comparison with those receiving medroxyprogesterone acetate or natural progesterone, and patients receiving dydrogesterone had a significantly higher incidence of regular progestogen-associated bleeding in comparison with those receiving natural progesterone. CONCLUSION: : Our data suggest that CS-EPT generally leads to regular withdrawal bleeding in women without uterine pathology. Micronized progesterone seems to induce more irregular bleeding episodes.

Administration, Cutaneous↗
PubMed2005

Auditory brainstem implant (ABI): new frontiers in adults and children.

UNLABELLED: Previous studies have considered only patients with neurofibromatosis type 2 (NF2) older than 12 years as candidates for an auditory brainstem implant (ABI). Our study expands the potential criteria to include both children and adult subjects with other cochlear or cochlear nerve malfunctions who either would not benefit at all from a cochlear implant (eg, cochlear nerve aplasia or avulsion) or whose benefit was or would be severely compromised (eg, cochlear ossification, cochlear fracture). STUDY DESIGN: In our department, over the period from April 1997 to September 2002, 29 patients, 20 adults and 9 children, were fitted with ABIs. Their ages ranged from 14 months to 70 years. Thirteen subjects had tumors, 10 NF2 and 3 solitary vestibular schwannoma, and 16 patients had a variety of nontumor (NT) cochlear or cochlear nerve diseases. A retrosigmoid-transmeatal approach was used in T and a retrosigmoid approach in NT patients. The electrode array was inserted into the lateral recess of the fourth ventricle and correct electrode positioning was monitored with the aid of electrically evoked auditory brainstem responses (EABRs). RESULTS: Correct implantation was achieved in all patients. No complications were observed due to implantation surgery or related to ABI activation or long-term use. Auditory sensations were induced in all patients with various numbers of electrodes (from 5 to 15). Different pitch sensations were identifiable with different electrode stimulation. Closed-set word recognition, open-set sentence recognition, and speech tracking scores achieved by the patients are reported in detail. The auditory performance of the patients showed significantly better outcomes than controls (Multicentric European clinical investigations on ABI with NF2). CONCLUSION: We have shown that the indications for the ABI can be extended to include NT patients with severe cochlear and/or cochlear nerve abnormalities. The degree of auditory benefit varies as a function of the underlying pathological conditions, with NT subjects exhibiting significantly better outcomes than the T patients.

Adolescent↗
PubMed2005

Effects of an oral contraceptive containing drospirenone on bone turnover and bone mineral density.

OBJECTIVE: To compare the effects of a new 21-day combined oral contraceptive containing 30 microg ethinyl/estradiol plus 3 mg drospirenone with a 21-day preparation containing 30 microg ethinyl/estradiol plus 75 microg gestodene on bone turnover and bone mineral density in young fertile women. METHODS: A randomized, controlled trial was conducted with healthy fertile women treated with 30 microg ethinyl/estradiol plus 3 mg drospirenone (group A; n = 24), 30 microg ethinyl/estradiol plus 75 microg gestodene (group B; n = 24) and healthy controls (group C, n = 23). At 3, 6, 9, and 12 months of the study, serum and urinary calcium, osteocalcin, urinary pyridinoline, and deoxypyridinoline were measured. At baseline and after 12 months, lumbar bone mineral density was determined by dual-energy X-ray absorptiometry. RESULTS: In groups A and B, urinary pyridinoline and deoxypyridinoline at 6, 9, and 12 months were significantly reduced in comparison with basal values and group C (P < .05). Pyridinoline and deoxypyridinoline levels were lower in group A than in group B throughout the study, but not significantly. In group A serum calcium levels were significantly increased after 6 months. At 12 months, no significant difference was detected in lumbar bone mineral density values among the 3 groups and in comparison with basal values. CONCLUSION: Both combined oral contraceptives exert a similar positive influence on bone turnover and bone-sparing effect in young postadolescent women.

Adult↗
PubMed2005

Cochlear implantation at under 12 months: report on 10 patients.

OBJECTIVES: There is growing evidence that early application of a cochlear implant in children affected by profound congenital hearing loss is of paramount importance for the development of an adequate auditory performance and language skills. For these reasons and as a result of advances in audiologic diagnosis and an enhanced awareness of the safety of cochlear implants, the age of implantation has substantially decreased over recent years. Children aged as little as 12 months are now being implanted in some centers. On the basis of our experience with very young children, we believe that the date of implantation may be further reduced to only 4 to 6 months of age. STUDY DESIGN: Over the period from November 1998 to April 2004, 103 children have been fitted with cochlear implants and 11 with auditory brainstem implants in our department, including 65 children aged below 3 years. The present study focuses on 10 children aged less than 12 months fitted with cochlear implants from November 1998 to December 2003. METHODS: The children's ages ranged from 4 to 11 (mean 9.5) months. Five were males and five females. All received a Nucleus CI 24 M. Postoperative auditory performance, as evaluated at the latest follow-up, was based on the category of auditory performance (CAP). The results obtained in these 10 children were compared with those obtained with cochlear implants in children belonging to older age brackets. The criteria used to assess speech performance were onset of babbling onset and babbling spurt, and the results observed were compared with those of a control group of 10 normally hearing children. RESULTS: Surgery was uneventful, and no immediate or delayed complications were encountered. Auditory performance was seen to increase as function of early age of implantation and length of implant use. All 10 children had a CAP score of 3 within 6 months of cochlear implant activation. The onset of babbling occurred very early (i.e., within 1 to 3 months of activation of the implant in all 10 patients), regardless of age at implantation, whereas the babbling spurt was recorded at times ranging from 3 to 5 months after implant activation. The positive impact of early implantation on babbling was clearly shown by the fact that the earlier the activation of the cochlear implant, the closer the results were to the outcomes of normally hearing children. CONCLUSIONS: We encourage very early implantation to facilitate a series of developmental processes occurring in the critical period of initial language acquisition. The indices we used in the present study (i.e., CAP and babbling) suggest that early cochlear implantation tends to yield normalization of audio-phonologic parameters, which enables us to consider the performance of children implanted very early as being similar to that of their normally hearing peers.

Age Factors↗
PubMed2005

Cochlear implantation in a human immunodeficiency virus-infected patient.

OBJECTIVES/HYPOTHESIS: Patients infected with HIV have an increased risk of developing sensorineural hearing loss (SNHL), yet pathogenesis of SNHL in HIV infection is still poorly understood. In subjects affected by bilateral profound or total SNHL, cochlear implantation may be the only possibility to restore a hearing level that allows them to have an acceptable quality of life. STUDY DESIGN: Case report. METHODS: A retrospective chart review of a HIV type 1-seropositive profoundly deafened patient who underwent cochlear implantation. RESULTS: To date, with a follow-up of 4 years, the patient has not experienced any complication and has regained useful open-set speech perception. CONCLUSIONS: Cochlear impairment with preserved auditory pathways can be responsible for profound SNHL in HIV-infected patients. Cochlear implantation can restore a social hearing in these patients, dramatically improving their quality of life. The surgical procedure can be safely performed when keeping in mind that the general condition of the patient is the decisive factor for or against surgery.

Adult↗
PubMed2004

Effects of two types of hormonal contraception--oral versus intravaginal--on the sexual life of women and their partners.

BACKGROUND: Data relating to the influence of hormonal contraception on sexual life are conflicting and mostly they refer to oral contraceptives. In this randomized, controlled, prospective study we compared the effect of an intravaginal hormonal contraceptive with the effect of a combined oral contraceptive on sexual function. METHODS: Fifty-one healthy women with a permanent partner and an active sexual life were randomly divided in two groups according to a computer-generated randomization list: 26 women (group A) used an intravaginal contraceptive releasing 120 microg/day of etonogestrel and 15 microg/day of ethinylestradiol (EE) and 25 women (group B) used an oral contraceptive containing 20 microg di EE and 150 microg of desogestrel. Twenty-five women participated in the study as control group (group C). A specific questionnaire was completed by the patients and their partners at the start of the study and after cycles 3 and 6 of contraceptive use. RESULTS: Within 3 months of contraceptive use, women from both groups A and B reported a global improvement in sexual function. A statistically significant increase in sexual fantasy was reported only by patients of group A. Whereas partners of the women in both groups A and B reported an improvement in sexual function after 3 months of contraceptive intake, only patients' partners of group A reported a significant increase in sexual interest, complicity and sexual fantasy. CONCLUSIONS: Both hormonal contraceptives tested were seen to have a positive effect on some aspects of sexual function. The intravaginal contraceptive ring seems to exert a further positive effect on the psychological aspect of both women and their partners, which is evident from an improved complicity and sexual satisfaction.

Administration, Intravaginal↗
PubMed2004

Effectiveness of auto-crosslinked hyaluronic acid gel in the prevention of intrauterine adhesions after hysteroscopic surgery: a prospective, randomized, controlled study.

BACKGROUND: A prospective, randomized, controlled study was performed to assess the efficacy of auto-crosslinked hyaluronic acid (ACP) gel to prevent the development of de-novo intrauterine adhesions following hysteroscopic surgery. METHODS: One hundred and thirty-two patients with a single surgically remediable intrauterine lesion (myomas, polyps and uterine septa, subgroups I-III) completed the study. Patients were randomized to two different groups: group A underwent hysteroscopic surgery plus intrauterine application of ACP gel (10 ml) while group B underwent hysteroscopic surgery alone (control group). The rate of adhesion formation and the adhesion score was calculated for each group and subgroup 3 months after surgery. RESULTS: Group A showed a significant reduction in the development of de-novo intrauterine adhesions at 3 months follow-up in comparison with the control group. Furthermore, the staging of adhesions showed a significant decrease in adhesion severity in patients treated with ACP gel. CONCLUSIONS: ACP gel significantly reduces the incidence and severity of de-novo formation of intrauterine adhesions after hysteroscopic surgery.

Adult↗