Congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects: report of a case with thumb hypoplasia.

Four unrelated cases of congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects were reported by McCredie and Reid in 1978 (J Pediatr 92: 762-765). As contiguous segments of the cervical neural crest are involved in the development of diaphragm and arms, the authors suggested that an early injury to the cervical neural crest might be the common underlying pathogenesis. We describe here a further example of this malformation complex: a newborn with a left posterolateral diaphragmatic hernia associated with ipsilateral thumb hypoplasia.

[Pregnancy management in women with thalassemia]. / Gestione della gravidanza nelle pazienti talassemiche.

Thanks to the improvement of the techniques of assisted fecundation, of the obstetric management and of the fetal and neonatal monitoring now it's possible for a woman suffering from beta-thalassemia to have a child. Our purpose is to stress the importance to control the high maternal and fetal risk through the monitoring of several scales. The problems, connected with pregnancy of beta-thalassemic women are discussed, emphasizing the connection between pregnancy management and gestational and neonatal outcome. A variety of problems should be considered such as the informed consent about maternal and fetal risks, the problems caused by infectious agents or due to the use of some antiviral; the difficulties connected with heart and endocrine diseases are also discussed. Personal experience, from 1995 to 1999, on 4 beta-thalassemic pregnant women (three with the intermediate type and one with the major type) is reported.

[Prenatal diagnosis of beta-thalassemia. A study based in Calabria]. / Diagnosi prenatale di beta-talassemia. Esperienza in Calabria.

BACKGROUND: The aim of this study was to underline, given the well-known incidence of beta thalassemia in Calabria, the possibility of establishing a prevention programme based on an increased awareness among the population using information and health education, genetic consultancy to identify high-risk subjects and prenatal diagnosis. METHODS: Between January 1992 and December 1999, we analysed 181 high-risk couples for beta thalassemia using chorionic villi sampling (CVS) performed with an echoguided transcervical or transabdominal route. A steady rise was observed over the years in the number of couples asking for prenatal diagnosis, thus demonstrating that patients and doctors are increasingly aware of the importance of a correct prenatal diagnosis. The variability of molecular defects found and the number of complications linked to the technique used are underlined. RESULTS: Prenatal diagnosis revealed 46 fetuses with the disease (24.8%), 97 heterozygotes (53.2%) and 41 healthy fetuses (22%). Only one malformation was observed in the 41 healthy fetuses. The authors also report the incidence of complications linked to CVS. In overall terms, 2.2% of pregnancies ended in spontaneous abortions (4 cases) and 2.75% with preterm births (5 cases). These complications could not be correlated with gestational age at the time of biopsy or the number of attempts made to obtain an appropriate sample.

Sperm-peritoneal fluid incubation test: influence of a GnRH agonist treatment.

Objectives of our work were to determine whether the presence of endometriosis, stage and the activity of the disease influence the sperm-peritoneal fluid (PF) incubation test and, possibly, whether a GnRH agonist (GnRHa) treatment in these patients can reduce the PF toxicity toward sperms. Preovulatory PFs from 18 patients with endometriosis (11 stage I-II rAFS and/stage III-IV; 10 with active lesions and 8 with inactive disease), and from 15 women with unexplained infertility were collected and frozen at the time of diagnostic laparoscopy. The ten patients with active endometriosis were treated by 3 months ovarian desensitization by a GnRH a (Decapeptyl 3.75 mg, Ipsen, Milan Italy) followed by a controlled ovarian hyperstimulation with a purified FSH (Metrodin, Serono, Rome, Italy) and HCG 10.000 UI (Profasi, Serono) when appropriate. In these patients, immediately before performing intrauterine and/or intraperitoneal insemination, a small aliquot of PF was collected transvaginally checking the absence of oocytes. Five hundreds suspension for one hour. PFs inducing a decrease in sperm motility greater than 20% were defined "toxic". The prevalence of toxic PF was not statistically greater in endometriosis (8/18) than in unexplained infertility (3/15) and was not dependent upon the stage of the disease, while it was significantly (rho = 0.01) more frequent in patients with active endometriosis (7/10) than other women (4/23). After a three months GnRHa treatment of these patients the rate of toxic PFs was significantly (p = 0.02) decreased (1 out of 10 treated cases).(ABSTRACT TRUNCATED AT 250 WORDS)

[Neurogenic hypernatremia syndrome in children]. / La sindrome di ipernatremia neurogena nell'età evolutiva.

Chronic "neurogenic" hypernatremia is the consequence of defective thirst mechanism either alone or in combination with impaired osmoregulation of ADH release. Both the specific receptors and the structures involved in hormonal secretion are localised in the hypothalamic area. "Neurogenic" hypernatremia can be secondary to a hypothalamic lesion of different type (neoplastic, vascular, malformative) or rarely it can be idiopathic. We present three cases: two females 4 and 5 months old, affected by cerebral malformations involving midline structures of the brain (III ventricule, corpus callosum etc.) and a male 4 years old with a idiopathic form. We discuss the relationship between the origin of the cerebral malformations and the ontogeny of the structures involved in the control of the osmolarity. Moreover we have observed that the hypernatremia in associated with hyperlipemia: the pathogenetic hypothesis explaining this abnormality are discussed.

[Serum levels of IgG subclasses in critically ill premature infants treated with intravenous immunoglobulins]. / Livelli sierici delle sottoclassi IgG in prematuri critici trattati con immunoglobuline endovena.

Fifty eight premature infants, all needing intensive care and mechanical ventilation, were randomly allocated to two groups. Intravenous immunoglobulins (IVIG, 500 mg/kg Sandoglobulin) were administered to Group 1 while Group 2 received saline as placebo. IgG subclass serum levels were evaluated in both groups on admission, after two hours from the end of IVIG or saline infusion and from day 3 to 7 from birth. IgG subclasses were also measured in 10 healthy term neonates during the first day of life. Results show that after 2 hours from the end of IVIG administration all IgG subclasses reach levels comparable to term neonates. Comparing IgG values between treated and untreated preterm neonates it was observed that on day 3 only IgG1 and IgG3 subclasses were significantly higher in Group 1 than in Group 2. At day 5 no differences were observed between the two groups. IgG2 subclass rose reaching a significant difference between the two groups ad day 5 and 7. Our data show that IVIG single dose (500 mg/kg) administration doesn't produce a constant elevation in all IgG subclasses during the first week of life in the critically ill preterm infant.