Biomedical subjects

Antonino Morabito

Publications and source records attributed to Antonino Morabito.

6 recordsLinked to original sources

PubMed2006

Hematopoietic progenitor cell deficiency in fetuses and children affected by Down's syndrome.

OBJECTIVES: There is an increased risk of myeloid malignancy in individuals with Down's syndrome (DS), which is associated with a mutation in exon 2 of the transcription factor GATA-1. It is recognized that there is accelerated telomere shortening in blood cells of children with DS similar to that in conditions such as Fanconi anemia and dyskeratosis congenita. The latter conditions are associated with stem cell deficiency and clonal change, including acute myeloid leukemia. In this study we address the questions 1) whether the accelerated telomere shortening is associated with progenitor/stem cell deficiency in individuals with DS, predisposing to clonal change and 2) whether the occurrence of reduced numbers of stem/progenitor cells precede the incidence of mutations in exon 2 of GATA-1. MATERIAL AND METHODS: Peripheral blood from fetuses (23-35 weeks gestation) and/or bone marrow from children affected by DS and age-matched hematologically healthy controls were analyzed for telomere length, content of stem/progenitor cells, and mutations in exon 2 of GATA-1. RESULTS: We found that hematopoietic stem/progenitor cell deficiency and telomere shortening occurs in individuals with DS in fetal life. Moreover, the presence of a low number of progenitor cells was not associated with mutations in exon 2 of GATA-1. CONCLUSIONS: We propose that stem cell deficiency may be a primary predisposing event to DS leukemia development.

Adolescent↗

PubMed2006

Total oesophagogastric dissociation: experience in 2 centres.

BACKGROUND/PURPOSE: Neurologically impaired (NI) children have an increased incidence of gastroesophageal reflux and many will require surgery. METHODS: The case notes of 50 NI children who underwent total oesophagogastric dissociation (TOGD) were reviewed. Thirty-four were done as a primary procedure, and 16 were rescues for failed fundoplications. RESULTS: There was no operative mortality. Morbidity consisted of 1 subphrenic collection, 1 oesophagojejunal dehiscence and 2 stenoses that responded to dilatation, and 2 bowel obstructions. In 1 case, partial gastric resection was needed because of transhiatal herniation of stomach. Gastrostomy feeding was established by 3 to 5 days. The mean hospital stay was 10.9 days. At 4 months to 11 years of follow-up, there was no recurrence of reflux. Children who could swallow enjoyed oral feeds. Their general health and weight SD scores improved. Food aspiration, chest infections, and hospitalizations were reduced, with an improvement in quality of life. There were 5 late deaths in the "primary" and 7 in the "rescue" group from deterioration in their original condition. CONCLUSION: Total oesophagogastric dissociation is a safe and versatile procedure without immediate mortality and limited surgery-related morbidity. Review of our practice suggests TOGD should be considered as a primary procedure in severely NI children with gastroesophageal reflux and significant oropharyngeal incoordination and dependence on enteral tube feeding. Rescue TOGD carries a greater morbidity because of previous surgery with consequent difficult dissection, poor oesophageal tissue, and higher incidence of vagal nerve injury.

Adolescent↗

PubMed2006

Surgery for intestinal perforation in preterm neonates: anastomosis vs stoma.

BACKGROUND: Traditionally, a stoma is established after resection of perforated or necrotic intestine for isolated intestinal perforation (IIP) and necrotizing enterocolitis (NEC). We compared the outcome of resection and anastomosis (RA) with stoma formation (RS). METHODS: Sixty-eight neonates undergoing laparotomy for IIP (n = 20), NEC (n = 43), and indeterminate cause (n = 5) were reviewed retrospectively. Intestinal resection was followed by either anastomosis or stoma. The primary outcome measure was the frequency of anastomosis- and stoma-related complications. RESULTS: The median gestational age (GA) was 28.5 weeks and birth weight (BW) was 940 g. Thirty-seven neonates had RA (NEC 22, IIP 14, 1 unknown), 28 RS (NEC 21, IIP 6, 1 unknown), and 3 laparotomy only. Twenty-five neonates died postoperatively. The mean +/- SD GA of those who survived was 30 +/- 4.5 weeks and those who died was 27.2 +/- 3.5 weeks (P = .008). The mean BW for those that survived was 1440.5 +/- 865.1 g and those who died was 827.7 +/- 385.1 g (P = .002). There was no statistically significant difference between the RA and RS groups for GA (P = .93), BW (P = .4), general complications (P = .96), anastomosis and stoma complications (P = .48), and deaths (P = .42). CONCLUSIONS: RA, rather than stoma, is an acceptable option in the surgical management of preterm neonates with IIP or NEC.

Anastomosis, Surgical↗

PubMed2006

Silo pouch stoma: a rescue procedure for intestinal catastrophe in gastroschisis.

Silo pouch formation is a standard procedure to prevent compartment syndrome in gastroschisis. Intestinal complications such as perforation and volvulus can occur and their management can be perplexing. We present three such patients in which we formed a stoma through the silo pouch owing to these complications. Creation of stoma through the silo is a novel, safe temporizing technique to decompress the bowel while delayed reduction continues. Subsequently, when the baby and the bowel improve, the stoma can be closed.

Compartment Syndromes↗

PubMed2006

Traction-compression-closure for exomphalos major.

PURPOSE: We present our experience with traction-compression-closure (TCC) for exomphalos major (EM) to achieve a safe and embryologically correct midline supraumbilical aesthetic closure with preservation of the umbilicus. METHODS: Nineteen neonates with EM were paralyzed and ventilated. The abdominal domain was increased by upward cord traction to assist liver-bowel reduction by gravity and sac ligation, followed by circumferential elastic body binder compression. The supraumbilical abdominal wall anomaly cicatrized spontaneously or was closed surgically as a midline scar, with preservation of the umbilicus. RESULTS: Over 7 years (1998-2004), 19 patients with EM were treated by TCC, 18 of whom survived. The patients' median gestational age was 36 weeks (range, 24-40 weeks); their median birth weight was 2312 g (range, 890-3000 g). The median time to reduction was 4 days (range, 3-5 days), whereas that to full enteral feeds was 6 days (range, 4-6 days). Mechanical ventilation for 7 days (range, 6-8 days) was not associated with any morbidity, and the time to home discharge was 11 days (range, 8-12 days). Five patients did not require any surgery. There was no episode of sac rupture or infection. CONCLUSION: Abdominal expansion by vertical cord traction followed by compression reduction (TCC) under muscle relaxation and ventilation is time well spent toward a safe and aesthetic midline abdominal wall closure without tension for EM.

Abdominal Wall↗

PubMed2005

The impact of Down's syndrome on the immediate and long-term outcomes of children with Hirschsprung's disease.

Hirschsprung's disease (HD) in Down's syndrome (DS) patients is stated to have a worse outcome than HD alone. In our study we reviewed the immediate and long-term outcomes of these children and questioned whether DS should influence the operative management. Data were collected on all children with HD (including total colonic aganglionosis), between January 1990 and December 2000. They were divided into two groups based on the presence or absence of Trisomy 21 and compared retrospectively. In this time period we treated 173 children with HD; 17 of these had DS. Both the groups were comparable in their mean gestational age, birth weight and presentation except that the DS group had a significantly higher overall incidence of pre and/or postoperative enterocolitis. A tota1 of 164 children underwent a Swenson pull-through and 9 had a Soave's procedure. Follow-up ranged from 1 to 10 years. Continence assessed using the Wingspread scoring system in children over the age of 4 years showed no significant difference. Although children with both HD and DS are predisposed to complications and required a more cautious management, long-term outcome in terms of continence was not significantly worse than in HD alone. Thus the co-existence of DS should not influence the decision to offer these children and their parents the choice of definitive repair.

Case-Control Studies↗