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Biomedical subjects

A Frattini

Publications and source records attributed to A Frattini.

At least 37 records · Page 2Linked to original sources
PubMed1996

The chromosome localization and the HCF repeats of the human host cell factor gene (HCFC1) are conserved in the mouse homologue.

The gene encoding the human host cell factor (HCFC1) has recently been cloned and mapped to Xq28. HCFC1 codes for a family of related polypeptides that apparently arise from posttranslational processing. Six extremely conserved 19-amino-acid (aa)long motifs, unique to HCFC1 and located in the middle of the protein, could play a role in this processing or could be instrumental to the physiological role of the protein. Aternatively, these repeats could have arisen from recent duplications and may not have any specific function. To resolve this issue, we cloned the homologous region from the mouse HCFC1 gene and demonstrated that the 19-aa motifs are extremely conserved in sequence, number, and genomic organization, while the "linker" region between the third and fourth repeat is not. This suggests an important function for these repeats. In addition, by RT-PCR analysis of human RNA and comparison to the human genomic sequence, an alternative transcript including a 44-aa in-frame insertion, deriving from the 3' end of intron 18, was found. The significance of this alternative transcript is unknown, since it was not detectable in the mouse. The mouse HCFC1 gene maps to a region syntenic to Xq28, and, as in human, is in close proximity to the Renin-binding protein gene, in a 100-kb region also including the Licam and Vasopressin receptor type 2 genes.

Amino Acid Sequence↗
PubMed1996

[Gittes' pubovaginal suspension in the treatment of stress urinary incontinence (SUI)].

Since the 1993, a series of 22 women with stress urinary incontinence underwent bladder neck suspension, according to Gittes (pubovaginal suspension). No patients had preoperative detrusor instability or intrinsic sphincter dysfunction; 14 pts had a significant cystocele (II-III degree). We followed up 20 pts at 6 months: 9 pts (45%) were cured, 3 were significantly improved and 8 were not improved. Disappearance or marked improvement of moderate or severe cystocele wasn't confirmed in all pts. No serious complications were recognized. We believe that this procedure is quick and easy to perform with low morbidity and is useful where the indication is correct: patients with stress incontinence without significant anterior vaginal wall prolapse.

Aged↗
PubMed1995

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).

Severe combined immune deficiency (SCID) represents a heterogenous group of hereditary diseases. Mutations in the common gamma-chain (gamma c), which is part of several cytokine receptors including those for interleukin (IL)-2, IL-4, IL-7, IL-9 and IL-15, are responsible for X-linked SCID, which is usually associated with a lack of circulating T cells and the presence of B lymphocytes (T- B+ SCID). The gene(s) responsible for autosomal recessive T- B+ SCID is still unknown. The Jak-3 protein kinase has been found to associate with the gamma c-chain-containing cytokine receptors. Therefore Jak-3 or other STAT proteins with which it interacts are candidate genes for autosomal recessive T- B+ SCID. Here we investigate two unrelated T- B+ SCID patients (both from consanguineous parents) who have homozygous mutations in the gene for Jak-3. One patient carries a mutation (Tyr100-->Cys) in a conserved tyrosine residue in the JH7 domain of Jak-3 which is absent in more than 150 investigated chromosomes. The other patient carries a homozygous 151-base-pair deletion in the kinase-like domain, leading to a frameshift and premature termination. Both mutations resulted in markedly reduced levels of Jak-3. These findings show that abnormalities in the Jak/STAT signalling pathway can account for SCID in humans.

B-Lymphocytes↗
PubMed1995

The human genes encoding renin-binding protein and host cell factor are closely linked in Xq28 and transcribed in the same direction.

The Xq28 chromosomal band represents a C+G-rich region onto which several genes have been mapped. In most cases, the exact relationship between the mapped genes has not yet been established, and neither the regulatory nor the spacer regions between the various transcription units have been defined. In the region around the L1CAM gene (encoding L1 cell adhesion molecule), the transcription units appear, from preliminary analyses, to be quite compact. By sequencing the region at the 3' end of the recently found host cell factor 1-encoding gene (HCFC1), we report that the renin-binding protein-encoding gene (RBP) major transcription start point lies 2763 bp downstream from the 3' end of HCFC1 and that both are transcribed in the same direction from the telomere to the centromere.

Base Sequence↗
PubMed1995

[Rouxel-Coadou method of ileal neobladder: clinico-functional considerations].

Twelve patients are submitted to orthotopic ileal neobladder, performed using staplers. The simplicity and speed of automatic stapling devices in the Rouxel-Coadou's surgical technique are reported. All patients underwent clinical and urodynamic evaluation at 3, 6, 12 months, after surgery (mean follow-up 6 months). They preferred complete daytime continence and 2 pts/4 night-time continence too. At one year, postvoid residual volume was absent, mean neobladder capacity was 450 ml and mean pressure at maximum capacity was 30-40 cm H2O. These preliminary results indicate that this technique guarantees a low-pressure reservoir with good capacity and compliance.

Adult↗
PubMed1995

[The current role of surgery in renal calculi].

We report our experience on 63 patients submitted to kidney stone surgery, between january '88 and june '94, at the Division of Urology, in Parma (Italy). Nowadays percutaneous lithotripsy (PCNL) and extracorporeal shock wave lithotripsy (ESWL) permit the resolution of lithiasic disease in more than 90% of the cases; in fact, the incidence of open surgery in only about 1-12%. At the present, the role of traditional surgery is also directed to resolution of damages of endourological and extracorporeal failures, as post-traumatic events. We want to emphasize, as now, that essential surgical approach to kidney surgery is lacking in the aim of young urologists training.

Contraindications↗
PubMed1995

[Percutaneous nephrolithotripsy (PCNL). The authors' own experience with 106 patients].

The authors report 106 consecutive patients who underwent percutaneous removal or debulking of renal stones from March '88 to June '94. Removal was successful in 64 pts (60%), while 6 patients (5.6%) needed a second-look section and in one case (0.9%) a third-look; in 33 cases (31.3%) PCNL was performed as debulking procedure before ESWL. The major complications were: 1 severe haemorrhage with secondary nephrectomy, 2 respiratory complications, 1 intestinal fistula, 2 hyponatremic syndromes, 1 global kidney functional exclusion and 1 sectorial exclusion. PCNL is an effective technique to treat the majority of single big renal stone or debulking procedure in staghorn calculi before ESWL.

Female↗
PubMed1995

[Extracorporeal shockwave lithotripsy (ESWL). Our experience].

The authors report their experience with a third generation lithotripter Storz-Modulith SL 20 with fluoroscopic and echography stone localization. A total of 284 patients, between september '92 and august '94, with 149 renal and 135 ureteral stones, underwent 483 treatments. The mean treatment rate was 1,7 and the over-all stone free rate was 93%. Auxiliary procedures before ESWL were performed in 5.1% of the sessions (stenting, nephrostomy tube) and in 1% post-ESWL manipulations for lithiasic steinstrasse. Complications as: renal damage, steinstrasse etc. occurred in 2.5% of the session; in 20 patients ESWL procedure failed.

Adult↗
PubMed1995

Orthotopic ileal neobladder: our experience.

We report our experience with orthotopic ileal neobladder, after radical prostatocistectomy for local advanced cancer. We performed 2 reservoirs using Camey's I-II procedure, 4 Studer, 3 Hautmann, 4 VIP and 17 performed using staplers, according to Rouxel-Coadou's technique (we underline the simplicity and speed of automatic stapling devices, very important elements for surgical staff performance in this kind of surgery). Clinical and urodynamic evaluations were performed at 3,6,12,18 months and after every year (mean follow-up 18 months). All patients referred day-time continence already 3 months and 7/10 pts (70%) night-time continence too, after 24 months; the others referred moderate incontinence (1 pad for night). The urethral sphincter was well preserved in all patients (MUCP 72,4 cm H2O). At 18 months, post-void residual volume was absent, basal cystometric pressure was 10-15 cm H2O and mean neobladder capacity was 475 ml. We report 2 cases of reservoir calculosis, 2 stenosis of neobladder-urethral anastomosis and 2 pts with I-II grade hydronephrosis (in first case it's monolateral, the second is a bilateral case) owing to a stenosis of ureteral-ileal anastomosis. In short, the use of debutularizated and bended ileum allows to achieve a low pressure with an adequate capacity and continent orthotopic reservoir.

Follow-Up Studies↗
PubMed1995

[Polyp fibroangioma of the ureter. Endoscopic treatment].

Fibroangiomatous polyps and its histological variants most often occur in the ureters of young adult. They may be multiple, and rarely occur in the renal pelvis. Microscopically, normal or hyperplastic urothelium cover loose, vascular, edematous, fibrous stroma that may be inflamed. Etiologic factors are unknown. Intermittent flank pain is the most common symptom; dysuria and hematuria occur less frequently. A case of fibroangiomatous polyps of the left ureter, in a 37-years old woman, is presented. We emphasize the endoscopic conservative treatment of this lesion as a valid alternative to the surgical approach; beside, it's important to obtain pre-operative histological finding, confirming the benign lesion.

Adult↗
PubMed1994

Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28.

The region between DXS52 and Factor VIII gene in the human Xq28 chromosomal band contains a G+C-rich isochore to which many genes have been mapped. We report here the isolation and characterization of a transcript mapping about 50 kb telomeric from the vasopressin type 2 receptor gene in a 180-kb YACs/cosmid contig containing the L1CAM gene at its centromeric end. The determined transcribed sequence from a human fetal brain library is identical to that of the recently identified accessory protein HCFC1 (host cell factor, also called C1) that activates herpes simplex virus VP16 (alpha TIF) transactivator protein for association with the octamer motif-binding protein Oct-1 (Cell 74: 115, 1993). The gene is expressed in a ubiquitous pattern and a larger transcript of approximately 10 kb is present in all the tissues tested, while an alternatively spliced RNA of approximately 8.0 kb is present in muscle and heart tissues. Genomic sequencing allowed us to determine that the sequenced transcript is assembled from 26 exons spread over a relatively small genomic region of approximately 24 kb. This alllowed us to determine that a previously reported cDNA clone arises from the splicing out of an internal portion of exon 8 which does not change the reading frame. All together these results raise the possibility that alternative mRNA processing could partly contribute to the diversity of the polypeptide HCFC1 family in a subset of tissues.

Base Sequence↗
PubMed1994

The exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280.

We have determined the exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280 (filamin), a ubiquitous protein that plays an important role in the mechanochemical activities of cells through its association with actin filaments and membrane components. The gene is composed of 47 exons spanning approximately 26 kb. The first and part of the second exon are untranslated. The actin-binding domain at the N-terminus is encoded by exons 2 to 5. The 96-amino-acid repeats corresponding to the elongated rod backbone of the protein are encoded by the remaining 42 exons: size, location, and boundaries of the exons cannot be easily correlated with the repeated structure, while sequences interrupting the repeats (the two hinge segments preceding repeats 16 and 24 and the 8-amino-acid (aa) segment interrupting the 15th repeat) were encoded by separate exons, suggesting that they may be recent additions to the X-linked protein. The 8-aa segment is encoded by exon 29, which is alternatively spliced.

Amino Acid Sequence↗
PubMed1994

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

Recently, CD40L has been identified as the gene responsible for X chromosome-linked hyper-IgM syndrome (HIGM1). CD40L on activated T cells from HIGM1 patients fails to bind B-cell CD40 molecules, and subsequent analysis of CD40L transcripts by reverse transcription PCR demonstrated coding region mutations in these patients. This approach, however, is of limited use for prenatal diagnosis of HIGM1 in the early-gestation fetus. In this report, we have defined the genomic structure of the CD40L gene, which is composed of five exons and four intervening introns. With this information, we have defined at the genomic level the CD40L gene abnormalities for three previously described HIGM1 patients who demonstrated clustered deletions in the CD40L coding region. These different deletions arose from three distinct mechanisms, including (i) a splice donor mutation with exon skipping, (ii) a splice acceptor mutation with utilization of a cryptic splice site, and (iii) a deletion/insertion event with the creation of a new splice acceptor site. In addition, we have performed prenatal evaluation of an 11-week-old fetus at risk for HIGM1. CD40L genomic clones provide a starting point for further studies of the genetic elements that control CD40L expression. Our knowledge of the CD40L gene structure will prove useful for the identification of additional mutations in HIGM1 and for performing genetic counseling about this disease.

Base Sequence↗
PubMed1994

[Calyceal diverticula: notes on endourological technique].

Percutaneous approach to complicated small caliceal diverticula is the first choice therapy. Generally, the open surgery is used large diverticula with renal parenchymal damage but, in selected cases, a percutaneous (PCN) treatment may be an effective alternative. The Authors report a case of inferior caliceal diverticulum associated to a parenchymal damage successfully treated using directed PCN management (electrical fulguration) and consequent injection of human fibrin glue.

Diverticulum↗
PubMed1994

[Neoadjuvant chemotherapy in advanced-stage bladder carcinoma. A randomized prospective study comparing MVAC and MVEEC].

The Authors report the results with combination of cisplatin, methotrexate, vinblastine with adriamycin or epidoxorubicin (MVAC v MVEEC), in the neoadjuvant treatment of muscle-infiltrating bladder cancer (T2-4NO-1MO), before cystectomy. MVAC has been used in 29 patients and MVEEC in 25, who met eligibility criteria. Results from this prospective randomised trial show that MVAC and MVEEC can produce clinical and pathologic down-staging in 40-50% of cases: cCR+cPR are 15/28 (54%), pCR+pPR are 11/25 (44%). The survival duration of "pathologic" responders has been significantly longer than that of no responders (median no achieved at 200 weeks v 124 weeks for "pathologic" no responders). We conclude that neoadjuvant chemotherapy with MVAC or MVEEC select the more responsive patients, who have a longer survival.

Aged↗
PubMed1994

[Percutaneous treatment of postoperative stenosis of ureteropelvic junction. Use of the Korth stent].

Endopyelotomy is, in our opinion, the most proper therapeutic strategy for the treatment of UPF post-surgery stenosis, as a traditional re-operation is often difficult to be carried out and not exempt from possible stenotic relapse. We report 2 cases of secondary stenosis and inferior caliceal stones associated. As a first step we subjected the patients to a percutaneous lithotomy of the calculi and we kept a trans-calyceal nephrostomy in situ for about 5 days. Among the different EPT techniques, we chose the "transurethral traction" Rippa-Franch set, as the dynamic combined transurethral traction of the cold-knife allows a smooth dissection of the strongest cicatrix pad, too. The stenting of the dissected UPF has been carried out for few days by means of a Korth's temporaneous nephrostomy and subsequently, at light-coloured urine, by using the definitive Korth endostent by subcutaneous anchorage. This internal stenting system seems to be the most suitable one, as the patient can stand it quite well for long periods of time (3-6 months) too and it is not burden with V-U refluxes that could jeopardize the good result of the operation. The easy performance and good results achieved by this way, persuade us to suggest this two combined techniques as an effective endourological solution for UPF post-surgery stenosis.

Constriction, Pathologic↗