Role of enterocele in the obstructed defecation syndrome (ODS): a new radiological point of view.

AIM: The aim of this study was to understand the role of enterocele in the pathogenesis of the obstructed defecation syndrome (ODS) a new defecographic classification based on function. METHOD: A total of 597 patients (551 women, 46 men) who underwent cinedefecography between November 2001 and November 2005 were studied. A total of 567 (95%) underwent cinedefecography as they had symptoms of ODS. Enterocele was classified into three types. RESULTS: Enterocele was found in 127 (23%) female and one (2.2%) male patients. Thirty-eight (6.9%) patients had type A, 38(6.9%) type B, and 27(4.9%) type C enterocele. A total of 24 patients (4.35%) had sigmoidocele. In patients with type C enterocele, the finding of a radiological pattern of ODS was higher (26/27) than that in the other groups (A + B + Sigmoidocele) (23/100) (P < 0.001). An obstructed evacuation pattern was found in 49 (38.5%) patients with enterocele and in 148 (34.9%) patients in the control group. CONCLUSION: Type C enterocele is often associated with a radiological pattern of ODS and usually presents as an isolated condition. Type B is less frequently associated with ODS and is more frequently accompanied by other pathological conditions.

Administration of type A botulinum toxin after total hip replacement.

Pain after hip replacement is one of the most common problems during rehabilitation and is often the main obstacle in rehabilitation, even though it can often be controlled by localized cryotherapy and/or administration of analgesics. However, patients with positive anamnesis for hip arthritis and long-lasting pain may report persistence of symptoms for months after surgical intervention; often, in these patients, contractures and muscle retraction in the pelvic region are observed. The present study reports the case of a female patient who suffered from complications after total hip replacement (THR) for osteoarthritis. Due to severe pain in the gluteal region not responding to standard treatments the patient was unable to stand in an upright position or walk, so she was forced to stop the rehabilitation program. Treatment by injection of botulinum toxin type A (BTX-A) in the gluteus maximus muscle brought about the complete resolution of pain and functional recovery. The follow-up visits, carried out after 6 and 16 months, confirmed the complete healing of the patient. BTX-A has been shown to be effective in the treatment of painful localized contractures even in the absence of neurological lesions. Therefore, BTX-A could be a feasible option to treat painful localized contractures that do not respond to standard treatments. Further investigations are suggested to better identify appropriate dosages and the best inoculation schedule.

Cloning and functional characterization of the human heterogeneous nuclear ribonucleoprotein type I promoter.

We have cloned and functionally characterized a portion of the human hnRNP I (heterogeneous nuclear ribonucleoprotein type I) gene containing the promoter elements. HnRNP I is an alternative splicing modulator of tissue-specific transcripts that is expressed in three different isoforms. The DNA sequence at the transcription start site, identified by 5'-rapid amplification of cDNA ends, shows a high 'GC' content, lacks canonical TATA sequences and contains multiple putative Sp1 and NF1 transcription factor-binding sites, a GATA box and a CAAT box. By means of a chloramphenicol acetyltransferase reporter construct and deletion analyses, we have identified two regions between -770 bp and -206 bp that had a positive effect on expression activity in HeLa cells.

Spontaneous carotid dissection presenting lower cranial nerve palsies.

Cranial nerve palsy in internal carotid artery (ICA) dissection occurs in 3--12% of all patients, but in 3% of these a syndrome of hemicranias and ipsilateral cranial nerve palsy is the sole manifestation of ICA dissection, and in 0.5% of cases there is only cranial nerve palsy without headache. We present two cases of lower cranial nerve palsy. The first patient, a 49-year-old woman, developed left eleventh and twelfth cranial nerve palsies and ipsilateral neck pain. The angio-RM showed an ICA dissection with stenosis of 50%, beginning about 2 cm before the carotid channel. The patient was treated with oral anticoagulant therapy and gradually improved, until complete clinical recovery. The second patient, a 38-year-old woman, presented right hemiparesis and neck pain. The left ICA dissection, beginning 2 cm distal to the bulb, was shown by ultrasound scanning of the carotid and confirmed by MR angiogram and angiography with lumen stenosis of 90%. Following hospitalisation, 20 days from the onset of symptoms, paresis of the left trapezius and sternocleidomastoideus muscles became evident. The patient was treated with oral anticoagulant therapy and only a slight right arm paresis was present at 10 months follow-up. Cranial nerve palsy is not rare in ICA dissection, and the lower cranial nerve palsies in various combinations constitute the main syndrome, but in most cases these are present with the motor or sensory deficit due to cerebral ischemia, along with headache or Horner's syndrome. In the diagnosis of the first case, there was further difficulty because the cranial nerve palsy was isolated without hemiparesis, and the second case presented a rare association of hemiparesis and palsy of the eleventh cranial nerve alone. Compression or stretching of the nerve by the expanded artery may explain the palsies, but an alternative cause is also possible, namely the interruption of the nutrient vessels supplying the nerve, which in our patients is more likely.

Organization of the human gene encoding heterogeneous nuclear ribonucleoprotein type I (hnRNP I) and characterization of hnRNP I related pseudogene.

The human gene hnRNPI encoding the heterogeneous nuclear ribonucleoprotein type I, an alternative splicing modulator of tissue-specific transcripts, also known as PTB (polypyrimidine tract-binding protein), was recently mapped on chromosome 14, as well as on chromosome 19, suggesting that two closely related copies of the same gene might exist in the human genome. We report here that the gene localized on chromosome 14 corresponds to a highly homologous processed pseudogene related to hnRNPI gene (psihnRNPI). Analysis by RT-PCR and by EST database comparison indicates that psihnRNPI is not expressed. In this report we have also analyzed the organization of the actual hnRNPI gene localized on chromosome 19. The DNA sequence at the intron-exon boundaries unveiled the possible mechanism by which three isoforms of the protein (namely hnRNPI, PTB2 and PTB3) are generated by means of alternative splicing of the same hnRNPI gene transcript.

[Percutaneous positioning of port catheter in the hepatic artery for chemotherapy of metastases using the Arai technique]. / Posizionamento percutaneo di catetere di Port nell'arteria epatica per la chemioterapia delle metastasi secondo la tecnica di Arai.

INTRODUCTION: Liver metastases from colorectal, gastric and breast cancers are a very frequent event; these metastases are treated with cycles of intraarterial chemotherapy with a permanent catheter positioned in the hepatic artery or with surgical or interventional radiology techniques. We tested Arai's technique and its feasibility and evaluated the efficacy of this chemotherapy schedule. MATERIAL AND METHODS: Four patients with liver metastases from colorectal carcinoma were treated with combined systemic and locoregional chemotherapy with a permanent catheter placed in the hepatic artery according to Arai's technique. Arai's technique consists in studying the hepatic vascularization and then redistributing hepatic flow in case of multiple hepatic arteries; the vessels in which the infusion of chemotherapies could cause toxicity are then occluded and finally a catheter is positioned in the hepatic artery with subclavian artery catheterization and the connection with a subcutaneous reservoir for injection--the port-a-cath system. We planned CT examinations to study liver morphology and radiographs of the abdomen and chest to depict the catheter position and patency, respectively. RESULTS: The catheter was positioned correctly without any complications in all patients, as planned. We administered 37 cycles of combined systemic and locoregional chemotherapy in all. Two patients died of disease progression after 6 months but the other 2 are still alive and CT showed partial disease remission. We observed no catheter dislocation or occlusion at chest radiography and transport angiography, respectively. CONCLUSIONS: Infusion chemotherapy in the hepatic artery from permanent catheters is widely accepted in our country and we believe that Arai's technique could be an alternative to the more classic and established surgery. The small number of our patients and the short follow-up do not permit definitive conclusions to be drawn on the clinical efficacy of this combined systemic and intra-arterial treatment.

Four years experience of primary intra-arterial chemotherapy (PIAC) for locally advanced and recurrent breast cancer.

AIMS: To find a means of achieving operability very quickly without the additional discomfort of prolonging systemic chemotherapy. To improve the patient's quality of life by obtaining quick tumor reduction and decreasing systemic toxicity. MATERIALS AND METHODS: From January 1991 to January 1995, 13 patients with locally advanced breast cancer (LABC) and 8 patients with recurrent breast cancer (RBC), were treated by transfemoral Seldinger technique, with the catheter tip placed into the subclavian artery at the basis of the internal mammary artery. The patients received 5-fluorouracil (5FU) 1000 mg, epirubicin (EPI) 30 mg/m2, mitomycin (MMC) 7 mg/m2 over an infusion for 30 minutes. The cycle was repeated every two weeks for three times. RESULTS: The overall response rate was 62%. Stage IIIb and RBC patients had a response rate of 100% and 25% respectively. In respondent patients a measurable response was seen after the first cycle. Ten patients were radically operated. After a media follow-up of 21 months, the overall survival is 52% at 48 months (68% at 48 months and 65% at 34 months for stage IIIb and RBC patients respectively). CONCLUSIONS: PIAC is feasible and effective. In LABC patients it reaches 100% of response rate. Systemic toxicity was absent and the local one was mild. The interval between the starting of PIAC and operation is short. There was an optimal compliance of the patients.

Sequence determinants for hnRNP I protein nuclear localization.

hnRNP I, also referred to as polypyrimidine tract binding protein, is one of the proteins associated with nascent pre-mRNA in the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes. As for all karyophilic proteins, the nuclear import of hnRNP proteins requires specific sequence determinants that in many instances differ from the canonical import signal. In order to identify the sequences responsible for the nuclear localization, various hnRNP I portions were fused to a reporter protein (bacterial chloramphenicol acetyl transferase) and used in transient transfection assay. By this approach we identified a 60-amino-acid sequence located at the amino terminus of hnRNP I (designated NLD-I) that is both necessary and sufficient for nuclear localization. NLD-I represents a novel bipartite type of nuclear localization signal that bears no resemblance to other nuclear localization determinants so far identified in hnRNP proteins.

[The need for urodynamic tests]. / Necessità delle prove urodinamiche.

Two hundred forty women were studied, who underwent symptomatological anamnesis, clinical examination and urodynamic investigations for female urinary incontinence. Our aim was to distinguish among the three main forms of incontinence (stress, urge and mixed incontinence). When only symptomatological anamnesis is considered, there is an incidence of error in nearly a third of the cases and, when further factors like menopause, prolapse and parity are considered, the incidence of error does not reduce. A correct diagnosis can be determined only by a combined use of clinical assessment and urodynamic investigations. (As regards clinical examination, a positive stress test leads to a diagnosis of stress incontinence. As regards urodynamic investigations a cystometry positive for instability of the detrusor muscle leads to a diagnosis of urge incontinence. If both clinical examination and urodynamic investigations are positive, the diagnosis is of mixed incontinence.) Our findings suggest that routinely it is sufficient to execute only cystometry among urodynamic investigations.

[Intra-arterial chemotherapy in locally advanced or recurrent breast neoplasms]. / La chemioterapia intraarteriosa nella neoplasia mammaria localmente avanzata o recidiva.

Intraarterial chemotherapy is studied as an alternative procedure for the neoadjuvant treatment of locally advanced and recurrent breast cancer. Our study was aimed at investigating the feasibility, the toxicity and the local response rate of an intraarterial chemotherapy regimen including 5-fluorouracil, epirubicin and mitomycin. These drugs were administered angiographically into the subclavian and internal mammary arteries ipsilateral to the lesion. We treated 20 women with a median age of 58 years (range: 42-74 years); 12 patients had locally advanced breast cancer with a median tumor size of 12 cm (range: 6-20 cm) and 8 patients exhibited cutaneous, thoracic or axillary recurrences, with a median lesion size of 6 cm (range: 3-12 cm). In all, we administered 54 cycles of chemotherapy drugs (mean: 2.7 cycles a patient). Most patients were submitted to selective catheterization of the internal mammary artery (44/54 cycles); all the drugs were injected into the subclavian artery only when catheterization of this vessel was unfeasible. No angiography-related toxicity was observed. No systemic, particularly hematological, toxicity was observed. Four patients exhibited skin erythema in the feeding region of the internal mammary artery, 2 hemialopecia, 1 cutaneous steatonecrosis and 1 transient hemiplegia. We obtained 1 complete remission and 11 partial responses, with 60% overall response rate (12/20 patients). All the patients with locally advanced breast cancer had an objective response and the mean interval between the start of therapy and radical mastectomy was only 49 days. In conclusion, intraarterial chemotherapy for locally advanced or recurrent breast cancer is a feasible and well-tolerated tool which needs further studies, particularly to assess its efficacy.

[Primary non-Hodgkin's lymphoma of the bone. Description of 2 cases]. / Linfomi non Hodgkin primitivi dell'osso. Descrizione di due casi.

Primary bone non Hodgkin's lymphomas (PBL) are approximately 5% of extranodal lymphomas and 5% of all primary bone tumors. A standard treatment has not been codified yet. The most received only radiotherapy but recently it was introduced combined modality treatment with radiotherapy plus chemotherapy or chemotherapy alone. The authors describe two cases of high grade PBL that received combined treatment with chemotherapy (VACOP-B regimen and monochemotherapy with mitoxantrone respectively) and radiotherapy. The patients achieved complete remission and up to day are alive and disease free at 33 and 15 months from the diagnosis respectively.

[The biochemical screening of Down's syndrome]. / Screening biochimico della sindrome di Down.

Since the initial observation of an association between low maternal serum aFP and trisomies noninvasive for chromosomal abnormalities is an obvious goal of genetics and obstetricians. Here are reported the results of a biochemical screening for fetal trisomies study based on the dosages of maternal serum aFP, bHCG and uE3 at 16 week gestational age on 1166 pregnant women without risk factors for genetical abnormalities. Sensitivity, positive predictivity and negative predictivity of the screening were 50%, 42.86% and 99.74% respectively.

Analysis of the yeast NSR1 gene and protein domain comparison between Nsr1 and human hnRNP type A1.

The yeast nucleolar protein-encoding gene NSR1 was isolated by low-stringency screening of a yeast genomic library with the human heterogeneous nuclear ribonucleoprotein type A1 (hnRNP A1) cDNA probe, and was mapped to chromosome VII. RNA abundance was determined and the transcription start point and polyadenylation site were mapped. A comparison between the Nsr1 and hnRNP A1 proteins, based on homopolymer RNA binding to their structural domains in vitro, revealed a striking biochemical similarity. When the N-terminal, lysine- and arginine-rich domain of Nsr1 was removed, the truncated protein behaved similarly to hnRNP A1; furthermore, the two RRM (RNA recognition motif) domains of Nsr1 behaved in the same manner as the two RRM domains of hnRNP A1. The biochemical data, therefore, would support the hypothesis that the two RRM domains in hnRNP A1 and Nsr1 interact with RNA in a similar manner in both mammalian and yeast cells, respectively.