Biomedical subjects

Raffaele Renella

Publications and source records attributed to Raffaele Renella.

6 recordsLinked to original sources

PubMed2006

Decision-making in pediatrics: a practical algorithm to evaluate complementary and alternative medicine for children.

We herein present a preliminary practical algorithm for evaluating complementary and alternative medicine (CAM) for children which relies on basic bioethical principles and considers the influence of CAM on global child healthcare. CAM is currently involved in almost all sectors of pediatric care and frequently represents a challenge to the pediatrician. The aim of this article is to provide a decision-making tool to assist the physician, especially as it remains difficult to keep up-to-date with the latest developments in the field. The reasonable application of our algorithm together with common sense should enable the pediatrician to decide whether pediatric (P)-CAM represents potential harm to the patient, and allow ethically sound counseling. In conclusion, we propose a pragmatic algorithm designed to evaluate P-CAM, briefly explain the underlying rationale and give a concrete clinical example.

Algorithms↗

PubMed2006

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

Enchondromas are a feature of several constitutional disorders of bone, and the classification of different nosologic entities is still provisional. Among these disorders, spondyloenchondrodysplasia (SPENCD), as outlined by Schorr et al. [1976], is defined by the presence of radiolucent spondylar and metaphyseal lesions that represent persistence of islands of chondroid tissue within bone. Careful review of radiographic findings is needed to distinguish SPENCD from the many other disorders combining enchondromas with spinal lesions. Even when strict criteria are applied, it appears that SPENCD is clinically heterogeneous, as some SPENCD patients are neurologically intact while others present with spasticity, mental retardation, and cerebral calcifications in different combinations, and it has been suggested that SPENCD should be divided in two types. We herein report ten individuals from six families with SPENCD and illustrate the radiographic changes. Seven individuals had CNS manifestations including spasticity, developmental delay, and late-onset cerebral calcifications. We also noted that six individuals had clinical manifestations of autoimmunity (auto-immune thrombocytopenic purpura, auto-immune hemolytic anemia, auto-immune thyroiditis, and SLE) and one had been diagnosed with immune deficiency. Neurological and autoimmune manifestations were seen in different combinations within one single family. These observations suggest that SPENCD may be a single entity defined by specific radiographic features, but with remarkably pleiotropic manifestations that include CNS disease (spasticity, mental retardation, and calcifications), as well as immune dysregulation ranging from autoimmunity to immunodeficiency. The notion of recessive inheritance hitherto assumed is challenged by the observation of two apparently dominant pedigrees.

Abnormalities, Multiple↗

PubMed2006

Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infections.

Major histocompatibility complex class II deficiency, a rare autosomal recessive primary immunodeficiency, is caused by the defective expression of human leucocyte antigen (HLA) class II molecules due to mutated trans-acting elements of any one of four regulatory genes (CIITA, RFXANK, RFX5, RFXAP). The impaired CD4 T-cell differentiation and antigen presentation in the periphery results in a severe defect of cellular and humoral response consistent with severe recurrent infections, leading to a poor prognosis. Currently, allogeneic haematopoietic stem cell transplantation (HSCT) is the only curative approach, but the overall cure rate is lower than in other immunodeficiencies. We report a single centre experience of 17 HSCTs with 15 HLA-identical donors between 1981 and 2004. Eight patients survived, while the occurrence of acute graft-versus-host disease (GVHD) was 50%. This study aimed to identify potential risk factors for GVHD and outcome within pre-HSCT complications related to the immunodeficiency. Five of seven patients with pre-existing viral infections developed acute GVHD > or = grade II, of whom four died. Two of seven patients without detectable pre-existing viral infection developed GVHD > or = grade II, and one died. The difference was significant (P < 0.05). A plausible link with other factors potentially associated with the development of GVHD could not be found. We suggest that the reduced survival after HLA-identical HSCT may be caused by the high incidence of pre-existing viral infections and associated with the onset of severe acute GVHD.

Acute Disease↗

PubMed2005

Burkholderia pseudomallei infection in chronic granulomatous disease.

Melioidosis is a severe illness caused by Burkholderia pseudomallei, a sepsis-causing bacterial pathogen that is common in East Asia. We reexamined the underlying diagnosis in a 12-year-old boy who was diagnosed in the French West Indies with melioidosis when he was 4 years old. Our investigations led to the determination of chronic granulomatous disease (CGD), an inherited condition characterized by phagocytic cell dysfunction. This is the third reported case of melioidosis associated with CGD to be reported, lending support to an association between the two. The molecular determinants of the susceptibility of CGD patients to B. pseudomallei are still unknown. Our report suggests that CGD should be suspected in children with melioidosis, both in the Americas and probably in other regions world-wide.

Child↗

PubMed2003

Breast-conserving surgery has equivalent effect as mastectomy on stage I breast cancer prognosis only when followed by radiotherapy.

BACKGROUND AND PURPOSE: Early-stage breast cancer is increasing and consequently the use of breast-conserving surgery (BCS). We examined the effect of mastectomy and BCS on overall and breast cancer survival in routine health care in Geneva, Switzerland. PATIENTS AND METHODS: We included all stage I breast cancers treated by surgery (n=1046) recorded at the Geneva Cancer Registry between 1988 and 1999. The effect of treatment type was evaluated by Cox models, which accounted for confounders. RESULTS: Overall, 780 (75%) women had BCS with radiotherapy, 57 (5%) BCS alone and 209 (20%) mastectomy. The overall 10-year survival was 86, 56, and 72%, respectively. The effect of BCS with radiotherapy was similar to that of mastectomy for both breast cancer mortality (adjusted hazard ratio (HR), 0.67; 95%CI, 0.31-1.38) and other causes of mortality (HR, 0.79; 95%CI, 0.49-1.28). Women with BCS alone had higher mortality from breast cancer (HR, 3.95; 95%CI, 1.59-9.84). CONCLUSIONS: This retrospective study shows that BCS plus radiotherapy is the predominant treatment in routine practice for stage I breast cancer in Geneva, with the same effect on survival as mastectomy. In this data set the addition of radiotherapy to BCS substantially reduces mortality from breast cancer without increasing other causes of mortality after 10 years of follow-up.

Aged↗

PubMed2002

[My child bleeds easily: clinical and paraclinical approach].

The aim of this review article is to provide a clinical guideline for the child presenting with easy bruising, distinguishing among the different etiologic groups associated with this symptom what is normal and what is not, allowing then to establish an algorithm for work-up and follow-up. We also precise in which concrete situation it would be necessary to refer the child to a pediatric hematologist.

Algorithms↗