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Biomedical subjects

A Ballabio

Publications and source records attributed to A Ballabio.

190 records · Page 11Linked to original sources
PubMed1985

Sepsis score and complement factor B for monitoring severely septic surgical patients and for predicting their survival.

Sepsis score and complement factor B (FB) have been measured in 66 severely septic surgical patients in the intensive care unit, with the aim of monitoring their clinical course and predicting their outcome. Sepsis score correlated well with clinical course. 82% of patients with initial sepsis score less than 20 progressively improved and survived. Only 6% of patients with sepsis score greater than or equal to 20 survived. FB plasma level was significantly higher (p less than 0.01) in patients who subsequently survived. Two indices were identified which could predict patient outcome several days in advance with 100% accuracy: (1) the index of survival from sepsis defined as the combination of sepsis score less than 20 and FB greater than or equal to 45 mg/dl, and (2) the index of death from sepsis defined as sepsis score greater than or equal to 20 and FB less than 40 mg/dl.

Adolescent↗
PubMed1984

Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients.

Cell fusion with polyethylene glycol (PEG) was performed on fibroblasts from a previously studied patient with a mild form of Sanfilippo B disease and altered residual enzyme activity and fibroblasts from several patients with the classical, severe form of the disease. No complementation was found in heterokaryons. This suggests that the mild phenotype in our patient can be ascribed to an allelic mutation.

Acetylglucosaminidase↗
PubMed1977

The effects of total parenteral nutrition on immunodepression due to malnutrition.

An experimental study was performed in 16 dogs to investigate the effects of sub-acute malnutrition on humoral and cellular immunity and phagocytic functions and, subsequently, to investigate the ability of total parenteral nutrition (TPN) to restore abnormal immunological variables. Deficiencies of IgG, C3, primary immune response to sheep red blood cells (SRBC),lymphocyte counts, lymphocyte response to phytohemagglutinin (PHA), and neutrophi chemotaxis were found to be caused by malnutrition. Nutritional repletion by means of TPN resulted in a return to normal or supranormal serum concentrations of IgG, IgM, and C3, and the primary immune response to SRVC was prompter and higher. Moreover, TPN resulted in restoration of normal neutrophil chemotactic responses. TPN did not improve lymphocyte response to PHA in these experiments. The study demonstrates that subacute malnutrition results in broad based deficiencies of the immunological response of the type that predispose to infection and that the proper use of TPN can correct most of these abnormalities.

Animals↗
PubMedDate not supplied

A very high density microsatellite map (1 STR/41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region.

Microphthalmia with linear skin defects (MLS) syndrome is an X-linked disorder presenting only in XX individuals. It is characterised by dysmorphic features such as microphthalmia, sclerocornea, and linear streaks of erythematous and hypoplastic skin restricted to the head and neck. Karyotype analyses have so far revealed a terminal deletion or translocation causing monosomy for the distal Xp region (Xp22.3) in all patients. We have used existing cosmid clones from the region to perform a saturation screen for AC-type microsatellites with the goal of facilitating analysis of five novel patients with features of MLS. Three of these cases had an Xp22.3 abnormality, while the other two showed some characteristic features of MLS but had apparently normal karyotypes. Forty-two novel microsatellite markers have now been developed from the 1.7 Mb cloned interval. Ninety-three percent of the novel markers exhibited allelic variation, representing an average of one polymorphic PCR-based marker (STR) every 41 kb.

Contig Mapping↗
PubMedDate not supplied

Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.

A new syndromic form of X-linked mental retardation associated to obesity, MRXS7, has been localised to Xp11.3-Xq23 in a large Pakistani family. The ten affected males show clinical manifestations of mental retardation, obesity and hypogonadism. The family was genotyped by a set of microsatellite markers spaced at approximately 10 cM intervals on the X chromosome. Linkage to five adjacent microsatellite markers, mapping in the pericentromeric area, was established and a maximum two-point lod score of 3.86 was reached at zero recombination with marker DXS1106. Reduced recombination events around the centromere prevented precise mapping of the gene.

Adolescent↗
PubMedDate not supplied

Left thoracic approach for cancer of cardia: early and late results.

BACKGROUND: The surgical treatment of cancer of the cardia is controversial and results are often disappointing. Concern exists not only with regards to the surgical approach but also to the extent of the resection. The authors analyze their experience over a 20-year period adopting almost exclusively a "limited" esophagogastrectomy with a wide regional lymphadenectomy through a left thoracotomy. The aim of the study is to determine if this approach actually plays a role in the treatment of this tumor. METHODS: 148 patients were evaluated for cardial cancer. Of these 22 (14.8%) were not resectable and 6 (4%) received other types of resections for technical reasons. 120 patients are the basis of the present analysis. More than 75% of patients were in stage III or IV. Follow-up was completed in 92.5% of cases; all surviving patients had at least 5 years of follow-up. RESULTS: Four (3.3%) patients died in the postoperative period. In 6 cases (5%) an anastomotic leakage occurred and this caused the death of 2 patients. Nine (7.5%) patients had severe pulmonary complications. Dysphagia was relieved in all non complicated patients. 13 (10.8%) patients had anastomotic recurrence. Overall survival rate after 5 years was 25.62 +/- 6.1%. A significant difference in survival was noted in patients at stages II and III after 5 years (61.3% vs 18.6, p < 0.02). CONCLUSIONS: This operation has proved to be a good option providing satisfying long-term results and a lower incidence of complications if compared with more extended procedures. It can be performed in the majority of patients with carcinoma of the cardia with a low mortality and morbidity and with excellent palliation of dysphagia. In our opinion it remains an optimum treatment for cardial cancer.

Adenocarcinoma↗