PubMed Health⌕ Search

Biomedical subjects

F Morelli

Publications and source records attributed to F Morelli.

51 records · Page 3Linked to original sources

Human HOX genes are differentially activated by retinoic acid in embryonal carcinoma cells according to their position within the four loci.

We studied the expression of 33 human homeobox genes belonging to four complex HOX loci in embryonal carcinoma NT2/D1 cells. These cells can be induced to differentiate by culturing them in media containing retinoic acid. Northern blot analysis reveals that no expression of these genes was detectable in NT2/D1 stem cells, whereas 22 HOX genes are well expressed in NT2/D1 cells treated with 10 microM retinoic acid for 14 days. The 11 HOX genes the expression of which remained undetectable in NT2/D1 cells after this treatment are located at the 5' end of their loci: four in HOX1, five in HOX3 and two in HOX4. The boundary between induced and silent genes roughly corresponds to the HOX genes constituting the homology group 5, related to the Abdominal-B homeotic gene of Drosophila. All nine identified HOX2 genes are well expressed in fully induced NT2/D1 cells and none of them maps 5' genes of this homology group. We conclude that HOX genes are differentially activated by retinoic acid in these cells according to their physical location within the four chromosomal loci.

Amino Acid Sequence↗

The human HOX gene family.

We report the identification of 10 new human homeobox sequences. Altogether, we have isolated and sequenced 30 human homeoboxes clustered in 4 chromosomal regions called HOX loci. HOX1 includes 8 homeoboxes in 90 kb of DNA on chromosome 7. HOX2 includes 9 homeoboxes in 180 kb on chromosome 17. HOX3 contains at least 7 homeoboxes in 160 kb on chromosome 12. Finally, HOX4 includes 6 homeoboxes in 70 kb on chromosome 2. Homeodomains obtained from the conceptual translation of the isolated homeoboxes can be attributed to 13 homology groups on the basis of their primary peptide sequence. Moreover, it is possible to align the 4 HOX loci so that corresponding homeodomains in all loci share the maximal sequence identity. The complex of these observations supports and extends an evolutionary hypothesis concerning the origin of mammalian and fly homeobox gene complexes. We also determined the coding region present in 3 HOX2 cDNA clones corresponding to HOX2G, HOX2H and HOX2I.

Amino Acid Sequence↗

Hypomethylation of repair patches in HeLa cells.

In HeLa cells, under conditions where normal semiconservative synthesis is suppressed by hydroxyurea, the excision repair process after irradiation by UV results in a small amount of incorporation of nucleotides into nonreplicated DNA. By labelling the cytosine moieties of these repair patches, and measuring the ratio between cytosine and 5-methylcytosine, we have found that the level of methylation of cytosine in repair patches five hours after UV-irradiation of the cells is about half of that observed in normal semiconservatively synthesized DNA.

5-Methylcytosine↗

Sequential occurrence of benign partial epilepsy and childhood absence epilepsy in three patients.

We first report 3 patients who experienced absence epilepsy (mean age at onset: 6.3 years; range: 4-9) 1-4 years after recovering from an electroclinical picture characteristic of benign childhood partial epilepsy (BCPE). All patients were put on monotherapy with sodium valproate, and their long-term course was excellent with remission of absences and normalization of EEG recordings. The exceptionality of our observation favors the hypothesis that BCPE and absence epilepsy are distinct entities.

Adolescent↗

Skin reactions due to anti-epileptic drugs: several case-reports with long-term follow-up.

In this study, the clinical findings and management of allergic skin reactions induced by the most used antiepileptic drugs, Lamotrigine (LMT) and Carbamazepine (CBZ), were evaluated. Lamotrigine is an antiepileptic drug recently released in several countries; it is effective for a variety of seizure types in adults and children, both as an add-on agent and in monotherapy, and it is generally well tolerated. Clinical and epidemiologic evidence suggest serious cutaneous reactions to antiepileptic drugs are more likely to occur during the first 8 weeks and they appear to increase when drugs are administered with other anticonvulsants, such as Valproate (VPA). We selected 10 patients who presented an idiosyncratic skin rash when treated with carbamazepine (8 patients) and lamotrigine (2 patients) administered as monotherapy, and we followed up on these patients for several years. Seven reactions were mild/severe cutaneous eruptions; one Toxic Epidermal Necrolysis, a case of Stevens-Johnson and a case of Hypersensitivity Syndrome. All severe skin drug reactions were induced by Carbamazepine. In five patients the AEDs were ceased abruptly (sometimes with the administration of a different molecule), tapered in four and continued unchanged in one. We conclude that the discontinuation of the drug with substitution with another is the most effective treatment and that corticosteroids are helpful in mild cutaneous reactions, while in severe skin reactions, such as Toxic Epidermal Necrolysis, corticosteroids are only a complementary therapy since intravenous immunoglobulins are the first choice treatment.

Adult↗

Viscoelastic properties of the semitendinosus and gracilis tendons in reconstruction of the ACL: an in vivo evaluation.

Tensioning of the tendons of the semitendinosus and the gracilis used to reconstruct the anterior cruciate ligament (ACL) of the knee is one of the main factors to take into consideration during surgery that aims at obtaining good postoperative joint stability. Some authors have shown in vitro that the viscoelastic nature of the patellar tendon is responsible for its gradual release (loss of tension). It is the purpose of this study to verify in vivo the biomechanical behavior of the semitendinosus and gracilis tendons. A total of 40 consecutive patients were submitted to reconstruction of the ACL with flexor tendons of the knee using a method that allows for the gradual tensioning of the doubled semitendinosus and gracilis tendons using the Swing Bridge method. Patients were divided into 2 groups: in the first 20 patients (group I), after adequate manual pretensioning and tibial and femoral stabilization, the tendons were twisted using a dynamometer to measure torsion forces until tensioning equal to 2.5 N was achieved. The control group (group II) was made up of the successive 20 patients in whom tensioning of the tendons at 2.5 N was carried out in many phases. Five minutes after initial tensioning at 2.5 N the decrease in tension was recorded that returned to initial values. A similar procedure was carried out after 5 more minutes. The patients in both groups were evaluated using a KT-1000 arthrometer one year after surgery. The patients in group II showed a decrease in torsion equal to 37.2% after the first 5 minutes, and a further 26.8% after 5 more minutes, and measurement by means of KT-1000 revealed mean values for S/S 30 lb. and S/S MM of 1.3 mm and 1.7 mm, respectively, that proved to have a statistically significant difference (p < 0.05) as compared to the patients in group I (S/S 30 lb.: 2.0 mm; S/S MM: 2.4 mm). Although these data do not provide indications on the amount and duration of pretensioning and definitive tensioning to be applied to the transplant, they do clearly show the viscoelastic properties of the tendons. These properties require a more in-depth study to better determine the exact tensioning of the neoligament.

Adolescent↗

[Transient neuromotor anomalies in the follow-up of the newborn infant at risk].

The case history in question refers to 94 high-risk babies, 24 of whom (25%) had neuromotor problems at some time during the first year. Of these, 15 have continued to be supervised up to the present time, i.e. to the age of four. Eight of them have had overall motor treatment and seven have had constant check-ups, advice on posture and active encouragement to move their bodies. All 15 infants developed normal neuromotor behaviour by the age of two (only one was retarded in speech). We therefore feel justified in not encouraging indiscriminate remedial therapy in all cases of abnormal development. It should be used only in those cases in which there are serious, persistent problems in the sphere of feeling and relating.

Follow-Up Studies↗

[High dose chemotherapy in metastatic carcinoma of the breast].

PURPOSE: To verify tolerance and clinical efficacy of high-dose chemotherapy (HDCT) in metastatic breast cancer (MBC). PATIENTS AND METHODS: We submitted to HDCT with autologous peripheral blood cells transplant 66 patients, with MBC responding to induction chemotherapy. The condizioning regimen was ICE: iphosphamide 3.3 g/m2 dd. -8/-6, carboplatin 450 mg/m2 plus etoposide 400 mg/m2 dd. -5/-3 (21 patients = 78%); CTM: cyclophosphamide 100 mg/kg dd. -4/-3, tyothepa 500 mg:m2 d.-5, mytoxantrone 40 mg/m2 d. -6 (6 patients, 22%). RESULTS: Median number of aphereses was 2 (range 1-5), median amount of CD34+ cells/kg bw of 10 x 10E6 (range 3.5-38.2). Median recovery time was 10th day for PMN (range 8-37) while for platelets it was 9th day (range 8-37): total hospital stay was of 24 days (range 22-48). After induction therapy we had PR in 13/27 metastatic patients (48%) and CR in 14/27 (52%). After conditioning treatment we had PR in 12/27 (44%) and CR in 15/27 (56%). Median time to progression was 19 months (range 7-38) and median survival 52 months (range 7-59+), with 30% surviving beyond 4 years. CONCLUSIONS: Feasibility of HDCT in advanced breast cancer seems verified. The promising results need to be confirmed.

Antineoplastic Agents↗