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Biomedical subjects

M Carella

Publications and source records attributed to M Carella.

48 records · Page 3Linked to original sources
PubMed1978

Lymphoid antigens on blast cells in the agranular metamorphosis of chronic myelogenous leukaemia.

Undifferentiated blasts from a Ph'-positive chronic myelogenous leukaemia (CML) in terminal metamorphosis were reacted in an indirect immunofluorescence test with antilymphocytic globulins (AHLGs), raised against cultured lymphoblasts, thoracic duct and peripheral blood lymphocytes from healthy donors. After proper myeloid and/or monocytic absorptions the AHLGs interacted strongly with the undifferentiated blasts of CML, while this was not true for parallel controls with non-lymphoid leukaemias, both acute and chronic. The intensity of fluorescence, as determined by the use of a microfluorimeter, on these agranular blasts was comparable to the positivity of lymphoid cells from acute and chonic lymphatic leukaemias. These findings lend further support to the conception of a lymphoblast-like variety of terminal blastic crisis in chronic myelogenous leukaemia.

Antigens, Surface↗
PubMed1976

The treatment of autoimmune blood diseases with antilymphocyte globulin.

Twelve patients with immunologically mediated diseases have been treated with ALG, alone or in combination. Tolerance was good. Indvidual case reports are discussed. Emphasis is placed on the duration of ALG-induced remissions, as well as on its favourable effect in humorally mediated autoimmune diseases. The absence of notable side effects, especially with the more recent and refined preparations, is stressed.

Adult↗
PubMedDate not supplied

The formation of deoxycholic acid in patients with type II and IV hyperlipoproteinaemia.

The formation of deoxycholic acid (D) was studied in 8 patients with Type II hyperlipoproteinaemia and in 6 with Type IV hyperlipoproteinaemia, using orally administered [2.4--3H]cholic acid and [24--14C]deoxycholic acid. The diet was standardized and of natural type. The mean values for fractional turnover, pool size and D synthesis in the patients with Type II pattern were 0.23 days-1, 331 mg and 75 mg/day, respectively; in Type IV they were 0.39 days-1, 587 mg and 191 mg/day. Compared with a group of healthy subjects, the pool size and formation of D were normal in Type IV, but significantly reduced in Type II. The mean conversion of cholic acid into the circulating pool of D was calculated to be 37% in Type II, and 38% in Type IV patients. Both these values are within normal limits.

Adult↗
PubMedDate not supplied

Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22).

A transcription map was generated of a 1 Mb interval including the HFE gene on 6p22. Thirty-seven unique cDNA fragments were characterised following their retrieval from hybridisation of immobilised YACs to primary pools of cDNAs prepared from RNA of foetal brain, human liver, foetal human liver, placenta, and CaCo2 cell line. All cDNA fragments were positioned on the physical map on the basis of presence in aligned and overlapping YACs and cosmid clones of the region. The isolated cDNAs together with established or published sequence tagged sites (STSs) and markers provided sufficient landmark density to cover approximately 90% of the 1 Mb interval with cosmid clones. The precise localisation of two known genes (NPT1 and RING finger protein) was established. A minimum of 14 additional transcription units has also been integrated. Twenty-eight cDNA fragments showed no similarity with known sequences, but 20 of these detected discrete mRNAs upon northern analysis. Their characterisation is still under investigation. Eleven new polymorphisms were also identified and localised, and the HFE genomic structure was better defined. This integrated transcription map considerably extends a recently published map of the HFE region. It will be useful for the identification of genetic defects mapping to this region and for providing template resources for genomic sequencing.

Caco-2 Cells↗
PubMedDate not supplied

Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.

Nail patella syndrome (NPS) or osteo-onychodysplasia, is an autosomal dominant disorder characterised by nail dysplasia, absent or hypoplastic patellae, iliac horns and nephropathy. Previous studies have demonstrated linkage of the nail patella locus to the ABO and adenylate kinase loci on human chromosome 9q34. Recently, informative recombination events placed the NPS locus within a 1-2 cM interval within D9S60 and the AK1 gene. We describe here linkage analysis performed in two large Italian pedigrees with 10 and 11 members affected, respectively. A set of highly informative markers have been analysed and the allele segregation in the two families confirmed the linkage to chromosome 9. The presence of three recombination events allows definition of the critical region with a centrometric boundary between markers D9S1881 and D9S1840 and a telomeric boundary between markers D9S315 and D9S290.

ABO Blood-Group System↗
PubMedDate not supplied

[Mixed carcinoid-adenocarcinoma tumor of the appendix: a case report and diagnostic and therapeutic considerations].

The layout of the work has stayed motivated from the recent observation of mixed carcinoid, located to the appendix and wide to the peritoneal cable, joint to our observation in an elderly patient with aspecific demonstration clinical-symptomatologic. The study of the endocrine tumors is in continuous evolution also if, to the actual state, there is a better comprehension of this neoplasm, variegated and complex and, under some appearances, still not known well. Jejunoileal carcinoid tumors differ, under many appearances, from those occurring in other sites of the gut. They have relatively high rate of transmural invasion and aggressive clinical behavior, contrasted by a scarce objectivity; the demonstration of symptoms generally implicates the presence of an illness in advanced stage. Also pharmacological therapy made important progress, with the possibility of administer composed able to interfere with the development and the neoplastic growth.

Adenocarcinoma↗
PubMedDate not supplied

[Ambulatory surgery: preoperative assessment].

Over the past 20 years public health expenditure has progressively increased for various reasons. With the aim of reducing public health expenditure and hospital stays, alternative models of public health care have been more widely adopted over the past two decades: Day Hospital, day surgery and ambulatory surgery. What is meant by ambulatory surgery is the clinical, organisational and administrative possibility of performing surgical operations and/or invasive and semi-invasive diagnostic procedures without hospitalisation of patients, in doctors' surgeries, outpatient departments or protected outpatient facilities. For both the patients and the centres providing the service to be able to exploit all the advantages stemming from this kind of health care provision, careful patient selection is mandatory, including assessment of the impact of any potential concomitant pathologies. Starting from their own personal experience and existing reports in the international literature, the authors analyse the impact that concomitant pathologies may have on patient selection for ambulatory surgery. The authors conclude that thorough preoperative evaluation of all the possible variables involved is the only way of ensuring the success of ambulatory surgery.

Ambulatory Surgical Procedures↗
PubMedDate not supplied

A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant condition consisting of congenital dysplasia of the eyelids with a reduced horizontal diameter of the palpebral fissures, droopy eyelids and epicanthus inversus. Two clinical entities have been described: type I and type II. The former is distinguished by female infertility, whereas the latter presents without other symptoms. Both type I and type II were recently mapped on the long arm of chromosome 3 (3q22-q23), suggesting a common gene may be affected. The centromeric and the telomeric limits of this region are well defined between loci D3S1316 and D3S1615, which reside approximately 5 cM apart. Here, we present the construction of a YAC contig spanning the entire BPES locus using 17 polymorphic markers, 2 STS and 28 ESTs. This region of approximately 5 Mb was covered by 31 YACs, and was supported by detailed FISH analysis. In addition, we have precisely mapped the propionyl-CoA carboxylase beta polypeptide (PCCB), the gene mutated in propionic acidemia, within this contig. Apart from providing a framework for the identification of the BPES gene, this contig will also be useful for the future identification of defects and genes mapped to this region, and for developing template resources for genomic sequencing.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Juvenile and adult hemochromatosis are distinct genetic disorders.

Juvenile Hemochromatosis (JH) is a rare genetic disorder that causes iron overload. JH clinical features are similar to those of hemochromatosis (HFE), but the clinical course is more severe and is characterized by an earlier onset and by a prevalence of cardiac symptoms and endocrine dysfunctions. Here we describe seven Italian patients belonging to five unrelated families with clinical features typical of JH. In four out of five families the parents were consanguineous. Analysis of HFE gene mutations in all the cases and nucleotide sequence of the gene in one case excluded this gene as responsible for JH. Segregation analysis of 6p markers closely associated with HFE in families with consanguineous parents clearly showed that JH is unlinked to 6p and thus genetically distinct from HFE.

Adolescent↗