We studied survival and disease complications in 1,146 patients with thalassemia major, born from January 1, 1960 to December 31, 1987. At last follow-up, in March 1997, probability of survival to age 20 years was 89% and to age 25 years was 82% for patients born in the years 1970-1974. Patients who died had a serum ferritin level, measured the year before death, significantly higher than those who survived. Diabetes was present in 5.4% of the patients; heart failure in 6.4%; arrhythmias in 5.0%, thrombosis in 1.1%, hypothyroidism in 11.6%, HIV infection in 1.8%. Hypogonadism was diagnosed in 55% of 578 patients who had reached pubertal age: 83.5% of hypogonadic females and 78.6% of males were receiving substitutive hormonal therapy. In conclusion, the survival of patients with thalassemia major is good and improving, but the prevalence of severe complications is still high.

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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.

Incontinentia pigmenti (IP), or "Bloch-Sulzberger syndrome," is an X-linked dominant disorder characterized by abnormalities of skin, teeth, hair, and eyes; skewed X-inactivation; and recurrent miscarriages of male fetuses. IP results from mutations in the gene for NF-kappaB essential modulator (NEMO), with deletion of exons 4-10 of NEMO accounting for >80% of new mutations. Male fetuses inheriting this mutation and other "null" mutations of NEMO usually die in utero. Less deleterious mutations can result in survival of males subjects, but with ectodermal dysplasia and immunodeficiency. Male patients with skin, dental, and ocular abnormalities typical of those seen in female patients with IP (without immunodeficiency) are rare. We investigated four male patients with clinical hallmarks of IP. All four were found to carry the deletion normally associated with male lethality in utero. Survival in one patient is explained by a 47,XXY karyotype and skewed X inactivation. Three other patients possess a normal 46,XY karyotype. We demonstrate that these patients have both wild-type and deleted copies of the NEMO gene and are therefore mosaic for the common mutation. Therefore, the repeat-mediated rearrangement leading to the common deletion does not require meiotic division. Hypomorphic alleles, a 47,XXY karyotype, and somatic mosaicism therefore represent three mechanisms for survival of males carrying a NEMO mutation.

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.

We report a 27-week, 850 g infant with severe Streptococcus group B sepsis and life-threatening hyperkalemia due to progressive anuria. On the fourth day of life, after he failed treatment with diuretics, salbutamol, insulin, calcium gluconate and sodium bicarbonate, he was treated with sorbitol-free Kayexalate enemas. Potassium level slowly decreased from 9.2 mmol/l to normal level along with a recovery of normal urine output. On the 11th day of life, clinical and radiological signs of a perforated necrotizing enterocolitis (NEC) occurred and the patient required surgical intestinal resection. Histologic examination of the ileum specimen revealed areas of necrosis with fibrosis and giant cell reaction to a nonpolarizable material consistent with sodium polystyrene sulfonate. Usually, Kayexalate is suspended in hyperosmolar sorbitol solutions and the elevated osmolarity seems to be responsible for hemorrhagic colitis, transmural necrosis and definitely NEC. Our case report shows that Kayexalate per se, and not necessarily suspended in sorbitol, can lead to gastrointestinal tract complications and NEC in preterm infants.

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.