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Biomedical subjects

L Bruni

Publications and source records attributed to L Bruni.

At least 19 recordsLinked to original sources
PubMed2001

Niikawa-Kuroki (Kabuki) syndrome in two siblings.

The Niikawa-Kuroki (Kabuki make-up) syndrome is a recognizable pattern of malformation consisting of mental retardation, dysmorphic cranio-facial features, bone and joint anomalies, postnatal growth deficiency and susceptibility to infections. Two male siblings, 8 and 5 years of age, displaying characteristic clinical and radiological manifestations of this syndrome as well as their father, who displays only some of the facial features, are presented.

Abnormalities, Multiple↗
PubMed2000

Ketorolac for paediatric postoperative pain. A review.

Ketorolac, a nonsteroidal anti-inflammatory drug (NSAID) largely used in adults, deserves particular attention for postoperative pain therapy in children, even if it is not officially approved for paediatric use. We have examined a lot of studies about the use of ketorolac for paediatric postoperative pain, pointing out pharmacological and pharmacokinetic properties and side effects. There are significant differences in pharmacokinetic parameters, doses, routes of administration, length of treatment, side effects, usage precautions and pharmacological interactions between children and adults. Amongst the many drugs available, ketorolac seems to be particularly efficient for postoperative pain therapy in children too.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMed1999

Non-immune fetal hydrops associated with nuchal cystic hygroma: further evidence for an autosomal recessive subtype.

Nuchal cystic hygroma (NCH) and non immune hydrops (NIH) were detected by ultrasound examinations in two sib male fetuses. Fetal and parental karyotypes were normal. The parents elected to terminate the two pregnancies. Post mortem examination showed no anomalies other than those detected by ultrasound. The family history shows consanguinity supporting the hypothesis, in this family, of an autosomal recessive inheritance of the cystic hygroma/non immune hydrops.

Diagnosis, Differential↗
PubMed1997

A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.

We describe a novel double nucleotide substitution in the SRY gene of a 46,XY female with gonadal dysgenesis or Swyer syndrome. The SRY sequence was analysed by both the single-strand conformational polymorphism assay and direct DNA sequencing of products from the polymerase chain reaction. A double nucleotide substitution was identified at codon 18 of the conserved HMG box motif, causing an arginine to asparagine amino acid substitution. The altered residue is situated in the high mobility group (HMG)-related box of the SRY protein, a potential DNA-binding domain. Since the mutation abolishes one HhaI recognition site, the results were confirmed by HhaI restriction mapping. No other mutations were found in the remaining regions of the gene. The corresponding DNA region from the patient's brother was analysed and found to be normal. We conclude that the SRY mutation in the reported XY female occurred de novo and is associated with sex reversal.

Adult↗
PubMed1997

Intraoperative monitoring of facial nerve antidromic potentials during acoustic neuroma surgery.

The present paper presents monopolar recording of facial nerve antidromic potentials as an alternative technique to facial electromyography for the continuous monitoring of the facial nerve during acoustic neuroma surgery. The investigation involved 22 patients undergoing acoustic neuroma surgery via a retrosigmoid approach (tumour sizes ranging from 5 to 28 mm). Bipolar electrical stimulation of the marginalis mandibulae was performed to elicit facial nerve antidromic potentials. Stimulus intensity ranged from 2 to 6 mA with a delivery rate of 7/sec. A silver wire monopolar electrode positioned intracranially on the proximal portion of the acoustic facial bundle was used to record antidromic potentials. To define the specific origin of the action potentials and acquire normative data, monopolar and bipolar recordings of facial nerve antidromic potentials were performed in 15 subjects undergoing retrosigmoid vestibular neurectomy for Meniere's disease. The average facial nerve antidromic potential latency was 4.2 (+/- 0.6) msec in subjects with acoustic neuroma and 3.3 (+/- 0.2) msec in subjects with Meniere's disease. Facial nerve antidromic potentials furnished near real-time information about intraoperative facial nerve damage and postoperative facial nerve function during acoustic neuroma surgery. Facial nerve antidromic potentials may provide additional information to conventional EMG. They allow the use of endplate blockers, yield quantitative estimation of facial nerve conduction properties in terms of amplitude and latency, and allow actual continuous monitoring of the facial nerve.

Adult↗
PubMed1996

"Sex passport" obligation for female athletes. Consideration and criticisms on 364 subjects.

In Ancient Greece determination of sex was made by direct observation of the all-male athletes participating in the Olympic Games. In 1966 the International Olympic Committee (I.O.C.) established that female athletes must submit to a complete physical examination before each international competition. In 1968 they further established that each female participant be granted a "Sex Passport" based upon the findings of a medical and gynaecological examination as well as chromosomal sex determination. The authors, whose department has been responsible for granting Sex Passports for more than 20 years, examined 364 female athletes aged 16 to 29 years using I.O.C. criteria. They found three chromatic-negative cases (0.8%). The present work indicates several scientific shortcomings of the current I.O.C. examination criteria, illustrates three chromatin-negative cases, their consequences and proposed a return to original criteria for examination except in doubtful cases.

Adolescent↗
PubMed1996

Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism.

Genotyping with flanking DNA markers was used to ascertain Treacher Collins Franceschetti syndrome (TCOF1) in a subject affected by tetralogy of Fallot and cryptorchidism. The proband's family consisted of a father and sister who were affected by the disease, and a healthy mother. Since cardiac malformation and cryptorchidism have been associated with the TCOF1 syndrome, the proband was suspected to be a carrier of the mutated gene. Microsatellite markers D5S527, SPARC and D5S519, which previously mapped the TCOF1 gene within a 2.1-cM interval on chromosome 5 (5q32-33.1), were used to follow the transmission of the TCOF1 mutated locus. Flanking markers D5S519 and D5S527 were informative and enabled us to exclude inheritance of a TCOF1 mutation to the proband, while showing that cardiac malformation and crytorchidism were unrelated in this patient.

Abnormalities, Multiple↗
PubMed1996

New perspectives in intraoperative facial nerve monitoring with antidromic potentials.

Electromyographic (EMG) activity recorded from the facial muscles in response to electrical and mechanical stimulation is the most popular method for continuous monitoring of the facial nerve during cerebellopontine-angle surgery. EMG recording is, however, extremely sensitive to the administration of neuromuscular blockers. An alternative technique for the continuous monitoring of the facial nerve [i.e., monopolar recording of facial nerve antidromic potentials (FNAPs)], is described. Ten subjects undergoing retrosigmoid vestibular neurectomy for Meniere's disease and 11 subjects operated on with acoustic neuroma surgery via a retrosigmoid approach (tumor size range, 12-28 mm) participated in the investigation. Bipolar electrical stimulation of the marginalis mandibulae was performed to elicit FNAPs. Stimulus intensity ranged from 0 to 10 mA with a delivery rate of 7/s. Antidromic potentials were recorded with a silver-wire monopolar electrode positioned intracranially on the proximal portion (root entry zone) of the acoustic-facial bundle. Bipolar recordings with two silver electrodes were also performed from the trigeminal and facial nerves in the cerebellopontine angle to define the specific origin of the action potentials. FNAP amplitude increased as a function of stimulus intensity. The average latency was 3.35 ms (range, 3.0-3.7 ms). Action potentials recorded intracranially during electrical stimulation of the marginal nerve originated specifically from the facial nerve. Changes in latency and amplitude of FNAPs were analyzed as a function of the main surgical steps in patients operated on for acoustic neuroma. FNAP monitoring provided quantitative real-time information about damaging maneuvers performed on the nerve and postoperative facial function.

Adult↗
PubMed1996

Down syndrome with unusual chromosome translocation: case report and review.

We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11:q21), + der (5) t(5;21). The mother's karyotype was 46 XX, der (5) t(5,21) (q11:q21). The chromosome imbalance resulted from 3:1 meiotic segregation.

Chromosomes, Human, Pair 21↗
PubMed1996

[Spondylitis in infancy. A case report].

The authors report on a case of a spondylodiskitis in three year old child. Diskitis is an inflammatory process of the intervertebral disk space, not often described in pediatric age. The etiology is infective and generally presents with lumbar spine localization. Clinically it is characterized by lumbar pain at times radiating to a lower extremity. Symptoms are aspecific and radiological signs do not appear for several weeks after the onset of symptoms. Interest in this pathology derives from the fact that it may be more common than previously recognized. This case offered us the opportunity to review principal symptoms of diskitis and to describe the main diagnostic technics used.

Child, Preschool↗
PubMed1995

Dominance of a single Epstein-Barr virus strain in SCID-mouse tumors induced by injection of peripheral blood mononuclear cells from healthy human donors.

Severe Combined Immune Deficiency mouse tumors, induced by inoculating peripheral blood mononuclear cells from 11 healthy human donors (hu-PBMC-SCID tumors), were used to analyse Epstein-Barr virus (EBV) type and strain variations. PCR analysis of EBNA 2- and EBNA 3C-specific sequences showed that EBV type A was present in SCID-mouse tumors induced by PBMC from all donors but one, while, using amplimers for a highly polymorphic region within the latent membrane protein (LMP) coding sequence, 5 different strains could be detected among the samples examined. The same LMP fragment was present in different tumors arising in the same animal, as well as in different mice injected with PBMC from any donor. Compared to B95.8 and AG876 prototype viruses, sequence analysis of LMP variants disclosed a higher homology to the latter, with 33 bp additional repetitions and a few point mutations in specific sites. This study confirms and extends previous data on the presence of a single EBV type and strain in the peripheral blood of most normal healthy subjects using the SCID-mouse system.

Amino Acid Sequence↗
PubMed1995

Cromolyn versus nedocromil: duration of action in exercise-induced asthma in children.

Cromolyn sodium (10 mg), nedocromil sodium (4 mg), and placebo, all delivered by a metered dose inhaler, were compared in their efficacy and duration of action in preventing exercise-induced asthma in children. After a screening test was performed, 13 patients with asthma performed standard exercise tests 20 minutes and 140 minutes after drug inhalation in a randomized, double-blind, crossover study. Both drugs were significantly more protective than placebo after 20 minutes, but no significant difference was seen between cromolyn sodium and nedocromil sodium. No difference between active drugs and placebo was found 140 minutes after inhalation. At these clinically recommended doses both cromolyn sodium and nedocromil sodium provide equal protection against exercise-induced asthma, and the duration of action of both lasts for less than 2 hours.

Adolescent↗
PubMed1994

Lymphoproliferative disease in human peripheral-blood-mononuclear-cell- injected scid mice. II. Role of host and donor factors in tumor generation.

Intraperitoneal injection of lymphoid cells from EBV+ donors into SCID mice might provide a useful tool for studying the pathways of B-cell lymphomagenesis in man. Since previous studies showed that donor T cells greatly favor B-cell proliferation and tumor generation in this model, we addressed the host and donor factors involved in limiting or promoting lymphoma development. The number of EBV-infected B-cell precursors was crucial, since purified B lymphocytes, which alone were unable to generate tumors, underwent expansion and established tumor masses when the animals were inoculated with an EBV-containing supernatant. Host factors were critical in limiting tumor development; in vivo NK-cell removal allowed purified B cells to expand and proceed to tumors in the absence of T lymphocytes, whereas potentiation of mouse NK-cell activity prevented tumor generation in PBMC- and LCL-injected animals. The T-cell-derived factors that favor lymphomagenesis could not be identified; IL-2, IL-4, IL-6, and soluble CD23 were not able to promote B-cell expansion, and treatment of PBMC-injected mice with the relevant anti-cytokine anti-sera did not counteract lymphoma development. These experiments also showed that IL-6 plays a minor role, if any, in B-cell lymphoproliferation in this model. Our data indicate that reconstitution of SCID mice with PBMC from EBV+ donors may constitute a useful model for determining the events involved in lymphomagenesis in humans, provided that strict control of all the experimental variables is guaranteed.

Animals↗
PubMed1994

Comparison of the protective effects of cromolyn sodium and nedocromil sodium in the treatment of exercise-induced asthma in children.

Seventeen children with asthma were studied in a double-blind, crossover, placebo-controlled study designed to compare the efficacy of cromolyn sodium with that of nedocromil sodium in preventing exercise-induced asthma. All drugs were delivered through a metered-dose inhaler (cromolyn sodium, 10 mg; nedocromil sodium, 4 mg; placebo, two puffs). Nedocromil sodium and cromolyn sodium provided significant, comparable protection from exercise-induced asthma, and both drugs were better than placebo. We conclude that nedocromil sodium and cromolyn sodium administered by a pressurized aerosol provide equal protection against exercise-induced asthma in children.

Adolescent↗
PubMed1994

Trisomy 9 mosaicism syndrome. A case report and review of the literature.

The authors report on a case of trisomy 9 mosaicism syndrome, a rare chromosome abnormality. The common features of this syndrome are growth and mental retardation, low-set malformed ears, wide sutures and fontanelles, bulbous nose, short palpebral fissures, micrognathia, microphthalmia and enophthalmos, abnormal hands and feet, hip dislocation, joint limitation, cardiovascular defects and urogenital abnormalities. Our patient presented some unusual characteristics, such as 13 pairs of ribs, a vertebral malformation, a hemivertebra and a Dandy-Walker syndrome. They compare their clinical findings with the few cases previously described and they try to contribute to the further clinical definition of the syndrome. It is possible that there is a correlation between the variability of the phenotype and the percentage of trisomic cells in the patient.

Abnormalities, Multiple↗
PubMed1994

Properties of tumors arising in SCID mice injected with PBMC from EBV-positive donors.

Groups of SCID mice were injected with different PBMC sub-populations, and established LCL cells. In about 80% of PBMC-injected animals, tumors developed in association with high levels of human Ig in mouse serum and detectable IL-6 levels. The tumors showed a histopathologic pattern reminiscent of large cell immunoblastic non-Hodgkin's lymphoma; in situ hybridization invariably evidenced EBV sequences in a minority of cells. Genotypic analysis of tumors arising in PBMC-injected mice showed the presence of different oligoclonal B cell populations in different tumor sites. Southern blot analysis disclosed the presence of both linear (replicating) and episomal (latent) EBV DNA forms; sequential analysis of LCL cells serially passaged into animals revealed the progressive selection of clonal cells with only the latent episomal form. Attempts to dissect the events underlying tumor development revealed that the presence of T cells within the injected population was essential for tumor generation; however, the putative T cell-derived factors involved are unclear, and IL-6 seems to play a minor role.

Animals↗