PubMed Health⌕ Search

Biomedical subjects

A Grillo

Publications and source records attributed to A Grillo.

At least 37 records · Page 2Linked to original sources
PubMed1994

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

The microphthalmia with linear skin defects (MLS) syndrome (MIM 309801) is a severe developmental disorder observed in XX individuals with distal Xp segmental monosomy. The phenotype of this syndrome overlaps with that of both Aicardi (MIM 304050) and Goltz (MIM 305600) syndromes, two X-linked dominant, male-lethal disorders. Here we report the clinical, cytogenetic, and molecular characterization of 3 patients with this syndrome. Two of these patients are females with a terminal Xpter-p22.2 deletion. One of these 2 patients had an aborted fetus with anencephaly and the same chromosome abnormality. The third patient is an XX male with Xp/Yp exchange spanning the SRY gene which results in distal Xp monosomy. The extensive clinical variability observed in these patients and the results of the molecular analysis suggest that X-inactivation plays an important role in determining the phenotype of the MLS syndrome. We propose that the MLS, Aicardi, and Goltz syndromes are due to the involvement of the same gene(s), and that different patterns of X-inactivation are responsible for the phenotypic differences observed in these 3 disorders. However, we cannot rule out that each component of the MLS phenotype is caused by deletion of a different gene (a contiguous gene syndrome).

Abnormalities, Multiple↗
PubMed1994

Neuroleptic malignant syndrome in an AIDS patient: clinical and pathological findings.

Neuroleptic malignant syndrome (NMS) has been recently described following therapy with non strictly neuroleptic drugs that alter dopaminergic function, such as sulpiride and metoclopramide, and might occur more easily in patients with functional or organic brain disorders. We observed an AIDS patient who suffered from NMS following treatment with clotiapine for insomnia and agitation. Two months later, he presented with a similar syndrome following antiemetic treatment with alizapride. On both occasions, the symptoms completely regressed after the administration of dopaminergic and muscle relaxant drugs. The patient died of pneumonia one month after the last episode. The present paper describes the clinical and pathological findings.

Acquired Immunodeficiency Syndrome↗
PubMed1994

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.

In the framework of constructing a comprehensive transcript map of the human Xp22.3 region, we identified an evolutionary conserved CpG island and cloned the corresponding gene. The predicted 760 amino acid protein encoded by this gene contains 12 hydrophobic domains and shares significant sequence and structural similarities with all the previously isolated members of a recently identified family of voltage-gated chloride channels (the 'CIC family'). This gene, termed CICN4 (Chloride Channel 4), contains at least 10 exons spanning 60 to 80 kb on the X chromosome. In contrast to most genes isolated from the human Xp22.3 region, the CICN4 gene does not share homology with the Y chromosome and it is conserved in mouse and hamster. Expression studies revealed the presence of a 7.5 kb transcript which is particularly abundant in skeletal muscle and is also detectable in brain and heart. These data suggest that we have identified a new voltage-gated chloride channel which is encoded by a gene located in the distal short arm of the X chromosome.

Amino Acid Sequence↗
PubMed1994

Assessment of the relevance of zona pellucida antibodies in follicular fluid of in-vitro fertilization (IVF) patients.

The presence of anti-zona pellucida antibodies in the follicular fluid of 11 women who underwent in-vitro fertilization (IVF) and embryo transfer was analysed. Only infertile couples with tubal or unexplained pathologies were included in our study, which was aimed at investigating the relationship between anti-zona pellucida antibodies in follicular fluid and failed fertilization. Whether or not these antibodies were present in some or all follicles in the same patient was also investigated. Out of 55 follicular fluids analysed, 36.3% were positive to the test and no fertilization was observed in oocytes from these follicles, while 63.6% were negative, and the oocyte fertilization rate associated with these was 51.4%. The presence of anti-zona pellucida antibodies was positively correlated with the degree of fertilization failure (P < 0.001 chi 2 test).

Adult↗
PubMed1994

[Care of the patient after biliopancreatic diversion (BPD) surgery].

The authors report their experience in the care of severely obese patients undergoing biliopancreatic diversion (BPD) surgery. The success of this surgical technique not only depends on its correct application but also on correct postoperative management, both immediately and over time. After a short summary of the methods of management used immediately after surgery, the authors focus in greater detail on the most frequent complications in this type of surgery: these are divided into early and late. Among the former, the authors discuss thromboembolic disease, the most severe complications and bronchopneumonia disorders. The authors illustrate the methods of treating both as well as therapies for their prevention. The most frequent and potentially dangerous late complications are examined in detail: protein malnutrition, sideropenic anemia and diarrhea. Lastly, the authors underline the need for a constant rather than episodic approach to the problem of severe obesity since, in their opinion, only continuous and long term application ensures the best results with the fewest complications.

Anemia, Iron-Deficiency↗
PubMed1994

[Prognostic factors of local recurrence after conservative surgery in breast carcinoma. Our experience].

One of the most important problems linked to the conservative surgery of breast cancer consists of local recurrences (LR), even if it has now been proven that the appearance of LR has no influence on overall survival of the patients operated for breast cancer. We have considered 108 patients suffering from breast cancer and treated with quadrantectomy plus axillary dissection. In these patients were found 4 LR (3.7%), that in two cases appeared in the residual mammary gland and in other two cases were found on the skin scar. The mean time of occurrence of the LR was of 43 month (range 18-90 month). The authors have correlated the appearance of LR with some characteristics of the tumor, as the pT, the histologic type, the histologic Grading, the estrogen receptor status and the extensive intraductal component of the tumor (EIC). No particular correlations were found between the pT, histologic type, histologic Grading, estrogen receptor status of the tumor and the onset of LR. Instead a significant correlation was found between the LR appearance and the EIC of the tumor. In fact, for the tumors with a rich EIC there was found a 11.5% incidence of LR against a 1.2% impact of LR for the tumors with a low EIC. The authors conclude that is impossible now to assert that exist really some prognostic factor but is most important to note that there are many data in the literature that seems ever more to point at the rich EIC of the tumor as an important prognostic factor of LR.

Axilla↗
PubMed1993

A high resolution deletion map of human chromosome Xp22.

We have developed a 32-interval deletion panel for human chromosome Xp22 spanning about 30 megabases of genomic DNA. DNA samples from 50 patients with chromosomal rearrangements involving Xp22 were tested with 60 markers using a polymerase chain reaction strategy. The ensuing deletion map allowed us to confirm and refine the order of previously isolated and newly developed markers. Our mapping panel will provide the framework for mapping new sequences, for orienting chromosome walks in the region and for projects aimed at isolating genes responsible for diseases mapping to Xp22.

Base Sequence↗
PubMed1993

The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.

We have used cell lines from patients with deletions and translocations involving the Xp22 region to map the genes for two X-linked disorders, ocular albinism type 1 (OA1) and microphthalmia with linear skin defects (MLS). Using existing and newly isolated DNA markers, the map position within Xp22 of key patient breakpoints, defining the boundaries of the genomic regions involved in these disorders (the critical regions), has been precisely determined. A 2.6 Mb yeast artificial chromosome (YAC) contig, spanning the critical regions for these two disorders, was assembled. Detailed long-range restriction analysis of the contig established the sizes of the critical regions to be 200 kb for OA1 and 800 - 925 kb for MLS. Ten potential CpG-islands, representing candidate sites for genes, have been mapped within the 2.6 Mb region. Our data should greatly facilitate efforts aimed at cloning the genes for these developmental defects.

Albinism, Ocular↗
PubMed1993

Successful resuscitation from cardiopulmonary arrest following deliberate inhalation of Freon refrigerant gas.

Presented is a case of successful resuscitation of cardiopulmonary arrest following inhalation of a fluorinated hydrocarbon. Fluorinated hydrocarbons have a direct cardiotoxic effect. We found no previous reports describing resuscitation with good neurologic outcome of a patient in cardiopulmonary arrest subsequent to inhalation of a fluorinated hydrocarbon. Early bystander cardiopulmonary resuscitation and ACLS provider intervention help to contribute to improved patient survival. We present a case illustrating the utility of basic life support and early advanced life support, followed by a review of the pertinent literature.

Adolescent↗
PubMed1992

Cytogenetic alterations in laryngeal carcinomas.

The purpose of this study was to determine the most frequent chromosomal abnormalities in laryngeal carcinomas. Biopsy specimens of surgical resections from laryngeal squamous cell carcinomas from 15 patients representing different degrees of histologic differentiation were analyzed in short-term culture. Nine of the 15 tumors were hypodiploid with 41 to 45 chromosomes, and four of the 15 tumors were polyploid with more than 50 chromosomes. The most frequent chromosomal alterations we noted included deletion of the short arm of chromosome 3 in 60%, monosomy of chromosome 11 in 30%, and inversions of chromosome 9 and 16 that were present in 20% of the cases.

Carcinoma, Squamous Cell↗
PubMed1991

[The treatment of nonpalpable breast lesions. Our experience].

Thanks to the diffusion of the clinico-mammographic screening, in the last ten years a considerable increase of breast carcinomas diagnosed in a subclinical stage has been registered. The authors report the preliminary results of their experience in nonpalpable lesions of the breast and confirm the validity of conservative surgery for their treatment. Nonpalpable breast carcinomas must be considered as an early stage of palpable T1 tumors, for which validity of conservative surgery is largely demonstrated. Moreover, results are not compromised by possible multicentricity and/or positivity of axillary lymph nodes.

Adult↗
PubMed1991

[The use of the TA-55 mechanical suturing device in the closure of the cecostomy. The authors' experience].

The authors confirm the actuality and validity of decompressive cecostomy in emergency treatment of large bowel obstructions. Taking into account that staplers have substantially reduced the rate of complications and inconvenient of gastrointestinal surgery, their use of cecostomy closure is proposed. Advantages obtained with this technique, namely lack of infections and incisional hernias, are underlined.

Acute Disease↗