Biomedical subjects

Simone Rugolotto

Publications and source records attributed to Simone Rugolotto.

8 recordsLinked to original sources

PubMed2005

Familial haemophagocytic lymphohistiocytosis: survival of a premature twin with immuno-chemotherapy and bone marrow transplantation from an HLA-identical unrelated donor.

UNLABELLED: We describe a premature twin born at 30 wk of gestational age, affected with familial haemophagocytic lymphohistiocytosis. Two different mutations were identified in his DNA: one inherited from the mother and one from the father. Haemophagocytosis had been confirmed in his twin brother, who died soon after birth, as well as in the re-evaluation of the autopsy of his older sister, who died 1 y earlier. At 26 d of age, chemotherapy and immune-suppressive treatment were started according to the HLH-94 protocol. At 6 mo of age, a bone marrow transplant from an HLA-identical, unrelated volunteer was performed. Now at 32 mo of age, the infant is healthy and without signs of graft-versus-host disease. CONCLUSION: This case report shows that immuno-chemotherapy and allogenic bone marrow transplant are feasible even in premature infants affected with familial haemophagocytic lymphohistiocytosis, which should be ruled out in unknown bleeding disorders of neonates.

Bone Marrow Transplantation↗

PubMed2004

Neonatal screening for glucose-6-phosphate dehydrogenase deficiency fails to detect heterozygote females.

We examined glucose-6-phosphate dehydrogenase (G6PD) deficiency in north-eastern Italian Caucasian neonates detected by neonatal screening, in order to measure the incidence of heterozygote females detected by neonatal screening, and to estimate the near-true total incidence. A total of 85,437 Caucasian neonates, born between January 2000 and December 2001, have been enclosed in the study. The total incidence of the disease, measured by fluorescent method, is 0.9 per thousand; the total incidence, calculated by Hardy-Weinberg law, is 4.8 per thousand. The frequency of missed females is 93% of total females expected with G6PD deficiency; most of them are very likely heterozygous females. The sensitivity of the fluorescent method might be not sufficient to detect all females. Since heterozygote females might develop the symptoms of G6PD deficiency later, these results suggest that the G6PD neonatal screening may not be helpful in preventing disease in females.

Female↗

PubMed2004

Serendipitous diagnosis of infracardiac total anomalous pulmonary venous return by umbilical venous catheter blood gas samples.

Total anomalous pulmonary venous return (TAPVR) is a rare congenital heart defect that occurs when all four pulmonary veins connect to the systemic venous circulation. We describe a full-term male neonate who presented with cyanosis and mild tachypnea shortly after birth. One umbilical artery and the umbilical vein were catheterized, and oxygen treatment was provided. Four echocardiograms indicated severe pulmonary hypertension and were negative for any congenital heart defects. After the umbilical artery catheter was removed, high partial pressure of oxygen was detected in blood samples drawn from the umbilical venous catheter that was positioned below the diaphragm. Based on this finding, TAPVR was suspected and confirmed with angiography through a central venous catheter. The neonate underwent a successful surgical repair to correct the cardiac defect.

Blood Gas Analysis↗

PubMed2004

Assisted infant toilet training in a Western family setting.

In the Western world, independent toilet training usually starts at age 18 months or later. In Asia and Africa, assisted toilet training traditionally starts between one and three months and is completed within approximately one year. This article reports a male infant who started caregiver-assisted toilet training at age 33 days in a Western family setting. During the first days, the caregiver made observations of the infant's bowel movement schedule and the cues he provided, from which she learned when to assist him to eliminate in the bathroom. During the elimination process, the infant was held in an "in-arms" position, with close contact between the infant's back and the caregiver's chest. Meanwhile, the caregiver gave vocal signals to prompt the infant to eliminate. Successful bowel training was completed at five months. This case report shows that early infant toilet training is possible in a Western family setting if the caregiver properly learns the infant's natural elimination timing and signals.

Age Factors↗

PubMed2004

Toilet training.

Explore the source record for details and available documents.

Age Factors↗

PubMed2004

Automated external defibrillators for children: what is new?

Although automated external defibrillators (AEDs) have been available for adults for more than 20 years, their use in children under 8 years of age has been approved by the International Liaison Committee on Resuscitation (ILCOR) as recently as June 2003. The following concerns about AEDs limited their use in children: amount of delivered energy, effect of biphasic waveforms in children, pad size, and capacity of detecting pediatric shockable and non-shockable rhythms. Lately, a new generation of AEDs addressed these issues and new encouraging data are available. New AEDs safely identify pediatric shockable and non-shockable rhythms and deliver fixed lower energy shocks through pads of appropriate size. This perspective briefly describes the main advances which heralded the new recommendations of ILCOR. Randomized clinical trials are now needed to identify whether these new pediatric devices can improve the outcome of pediatric cardiac arrest.

Automation↗

PubMed2004

Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine.

BACKGROUND AND OBJECTIVES: Seven Italian centers reported data on survival, causes of death and appearance of complications in patients with thalassemia major. The interactions between gender, birth cohort, complications, and ferritin on survival and complications were analyzed. DESIGN AND METHODS: Survival after the first decade was studied for 977 patients born since 1960 whereas survival since birth and complication appearance was studied for the 720 patients born after 1970. Better survival was demonstrated for patients born in more recent years (p<0.00005) and for females (p=0.0003); 68% of the patients are alive at the age of 35 years. In the entire population 67% of the deaths were due to heart disease. RESULTS: There was a significant association between birth cohort and complication-free survival (p<0.0005). The prevalence of complications was: heart failure 6.8%, arrhythmia 5.7%, hypogonadism 54.7%, hypothyroidism 10.8%, diabetes 6.4%, HIV infection 1.7%, and thrombosis 1.1%. Lower ferritin levels were associated with a lower probability of heart failure (hazard ratio =3.35, p<0.005) and with prolonged survival (hazard ratio = 2.45, p<0.005), using a cut-off as low as 1,000 ng/mL. INTERPRETATION AND CONCLUSIONS: Survival and complication-free survival of patients with thalassemia major continue to improve, especially for female patients born shortly before or after the availability of iron chelation.

Adult↗

PubMed2003

Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study.

We report on three patients (two are brothers) with confirmed Barth syndrome treated with pantothenic acid. This treatment is still controversial and only one study has reported positive results to date. In our patients, long-term treatment has failed to reduce the number of infectious episodes and prevent dilated cardiomyopathy. Our cases show that this treatment is not as effective in Barth syndrome as was previously claimed.

Acyltransferases↗