Multimodal Surgical Approach for Adult Patients With Chronic Intestinal Pseudo-Obstruction: Clinical and Psychosocial Long-term Outcomes.

Background: Clinical and psychosocial outcomes of a multimodal surgical approach for chronic intestinal pseudo-obstruction were analyzed in 24 patients who were followed over a 2- to 12-year period in a single center after surgery or intestinal/multivisceral transplant (CTx).

Methods: The main reasons for surgery were sub-occlusion in surgery and parenteral nutrition-related irreversible complications with chronic intestinal failure in CTx.

Results: At the end of follow-up (February 2015), 45.

A Family with γ-Thalassemia and High Hb A2 Levels.

We describe a family carrying a γ-globin gene deletion associated with an increase of Hb A2 level beyond the normal range. The family included the proband, his sister and their father, all with increased Hb A2 and normal Hb F levels. The proband and his sister showed borderline values of mean corpuscular volume (MCV) and reduced values of mean corpuscular hemoglobin (Hb) (MCH).

Paternal germline mosaicism in collagen VI related myopathies.

Background: Collagen VI-related disorders are a group of muscular diseases characterized by muscle wasting and weakness, joint contractures, distal laxity, serious respiratory dysfunction and cutaneous alterations, due to mutations in the COL6A1, COL6A2 and COL6A3 genes, encoding for collagen VI, a critical component of the extracellular matrix. The severe Ullrich congenital muscular dystrophy (UCMD) can be due to autosomal recessive mutations in one of the three genes with a related 25% recurrence risk. In the majority of UCMD cases nevertheless, the underlying mutation is thought to arise de novo and the recurrence risk is considered as low.

Psychological adaptation and quality of life of adult intestinal transplant recipients: University of Bologna experience.

Introduction: Intestinal transplantation has become an accepted therapy for individuals permanently dependent on total parenteral nutrition (TPN) with life-threatening complications. Quality of life and psychological well-being can be seen as important outcome measures of transplantation surgery.

Methods: We evaluated 24 adult intestinal transplant recipients and 24 healthy subjects (a control group).

Value of imaging studies after a first febrile urinary tract infection in young children: data from Italian renal infection study 1.

Objective: We examined the diagnostic accuracy of routine imaging studies (ultrasonography and micturating cystography) for predicting long-term parenchymal renal damage after a first febrile urinary tract infection.

Methods: This study addressed the secondary objective of a prospective trial evaluating different antibiotic regimens for the treatment of acute pyelonephritis. Data for 300 children < or =2 years of age, with normal prenatal ultrasound results, who completed the diagnostic follow-up evaluation (ultrasonography and technetium-99m-dimercaptosuccinic acid scanning within 10 days, cystography within 2 months, and repeat technetium-99m-dimercaptosuccinic acid scanning at 12 months to detect scarring) were analyzed.

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.

Background: The commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable through direct sequencing. The remaining mutations (about 2%) are thought to be pure intronic rearrangements/mutations or 5'-3' UTR changes. In order to screen the huge DMD gene for all types of copy number variation mutations we designed a novel custom high density comparative genomic hybridisation array which contains the full genomic region of the DMD gene and spans from 100 kb upstream to 100 kb downstream of the 2.

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.

Genetic testing of the cystic fibrosis transmembrane conductance (CFTR) gene is currently performed in couples undergoing assisted reproduction techniques (ART), because of the high prevalence of healthy carriers in the population and the pathogenic relationship with congenital bilateral absence of vas deferens (CBAVD). However, discordant data have been reported concerning the usefulness of this genetic test in couples with no family history of cystic fibrosis (CF). In this study, we report the results of CFTR molecular screening in 1195 couples entering ART.

Efficiency of organ procurement and transplantation programs.

The number of donations per million population (pmp) per year and the number of transplants pmp/year enables one to compare donation or transplant programs made in different years in the same area or made the same year in different areas. These pmp indexes may be integrated with an evaluation system by which each organ is evaluated separately in terms of the efficiency of its procurement and transplant systems using the procurement index (percentage in terms of number of organs utilized/number of organs procurable from donors utilized in a single area during 1 year) and the transplant index (percentage in terms of number of transplants performed/number of organs harvested in a single area during 1 year). We have called them Caldes I (procurement) and Caldes II (transplant) indexes.

Specific changes in peripheral blood lymphocyte phenotype from burn patients. Probable origin of the thermal injury-related lymphocytopenia.

T-lymphocyte subsets from 27 severely burned patients and 32 controls were analysed using monoclonal antibody immunofluorescent staining and flow cytometry. Compared to normal controls, burn patients showed a remarkable reduction in absolute number of CD3-lymphocytes in the 48 h following injury, which was accounted for by a decrease in both CD4 and CD8 subsets. Activated lymphocytes, as defined by expression of CD25, CD69 and CD71, were significantly increased in burned patients.

Transabdominal chorionic villus sampling: analysis of 350 consecutive cases.

We report a series of 350 patients submitted to transabdominal chorionic villus sampling (CVS). A technique using two ultrasound-guided needles and a suction pump was used. In most cases, the procedure was performed between 9 and 13 weeks.

Haplotypes of thalassaemic families from the Po river delta: importance for prenatal diagnosis of beta-thalassaemia.

The beta globin haplotypes, corresponding to 50 normal and 50 thalassaemic chromosomes, were determined in 25 families from the Po river delta area who had beta thalassaemia. The haplotypes were obtained by studying the familial segregation of 6 restriction fragment length polymorphisms of the beta globin gene cluster. The results show an almost exclusive presence of 3 haplotypes linked to the beta thalassaemia chromosomes of this area: haplotype I, II and IX according to Orkin's classification.

Impaired HLA capping capacity of peripheral blood lymphocytes in Duchenne muscular dystrophy.

The cap capacity in nine Duchenne muscular dystrophy (DMD) patients and in 23 healthy male subjects (14 adults and nine neonates) has been investigated by inducing capping of HLA molecules. The evaluation of capping percentages ranged in healthy controls from 44 to 61 with a mean value of 53.39 +/- 4.

[Possibility of prenatal diagnosis of progressive muscular dystrophy: evaluation of creatine kinase activity in serum and the capping of lymphocytes].

Duchenne muscular dystrophy is a severe inherited disease. The pathogenesis is unknown. Duchenne dystrophy is characterized by a large number of membrane abnormalities, which are manifested by a leakage of muscle enzymes, such as creatine kinase (CK), and a reduction in cap formation in lymphocytes.