Missed opportunities to prevent mother-to-child transmission of HIV in Italy.

OBJECTIVES: Vertical transmission of HIV can be effectively controlled through antenatal screening, antiretroviral treatment and the services provided during and after childbirth for mother and newborn. In Italy, the National Health Service guarantees universal access to prenatal care for all women, including women with HIV infection. Despite this, children are diagnosed with HIV infection every year. The aim of the study was to identify missed opportunities for prevention of mother-to-child transmission of HIV. METHODS: The Italian Register for HIV Infection in Children, which was started in 1985 and involves 106 hospitals throughout the country, collects data on all new cases of HIV infection in children. For this analysis, we reviewed the database for the period 2005 to 2015. RESULTS: We found 79 HIV-1-infected children newly diagnosed after birth in Italy. Thirty-two of the mothers were Italian. During the pregnancy, only 15 of 19 women with a known HIV diagnosis were treated with antiretroviral treatment, while, of 34 women who had received an HIV diagnosis before labour began, only 23 delivered by caesarean section and 17 received intrapartum prophylaxis. In 25 mothers, HIV infection was diagnosed during pregnancy or in the peripartum period. Thirty-one newborns received antiretroviral prophylaxis and 39 received infant formula. CONCLUSIONS: We found an unacceptable number of missed opportunities to prevent mother-to-child transmission (MCTC). Eliminating HIV MTCT is a universal World Health Organization goal. Elucidating organization failures in Italy over the past decade should help to improve early diagnosis and to reach the zero transmission target in newborns.

The dark side of the moon: severe therapy-resistant asthma in children.

Problematic severe asthma is the term used to describe children whose asthma is not responsive to standard therapy with high-dose inhaled corticosteroids and additional controllers. These children need to be assessed by a step-wise systematic protocol in order to confirm the diagnosis, evaluate co-morbidities, assess the adherence to treatment, and finally evaluate the basic management. More than half of these children have "difficult-to-treat asthma", which improves if the basic management is correct. Children whose asthma remains uncontrolled despite resolution of any reversible factors are termed "severe therapy-resistant" asthmatics; for them, an individualised treatment plan is developed after a detailed and invasive protocol of investigation. Therapeutic options for these patients can be divided into medications used in lower doses for children with less severe asthma, and those used in other pediatric diseases but not for asthma. Most treatments are unlicensed and there is a lack of high-quality evidence. Children with recurrent severe exacerbations, in particular in the context of good baseline asthma control, are particularly difficult to treat, and there is no evidence on which therapeutic option to recommend. International collaborations, using standard protocols of investigation, are needed to better understand mechanisms of severe therapy-resistant asthma and to deliver evidence-based treatments in the future.

Characterization of oligosaccharides in milk and feces of breast-fed infants by high-performance anion-exchange chromatography.

Human milk contains a large amount of oligosaccharides, which represent its third largest solute. Nevertheless, both the metabolism and the role of these substances are still largely unknown. A previous study we conducted documented that the amount of oligosaccharides excreted in the feces varies from 6% to 13% of the 24-hour ingested oligosaccharides. The aim of this study was to characterize the pattern of oligosaccharides in the feces compared with the pattern of the ingested milk. Six term newborn infants were studied at the end of the first month of life. A 7:00 AM milk sample was obtained with an electric breast pump. Feces were collected during the day of milk sampling. Analyses of oligosaccharides were performed using high-pH anion-exchange chromatography with pulsed amperometer detection. Pure milk oligosaccharides were used as reference standards. The chromatographic profile of the oligosaccharides present in the feces and in the milk samples showed more than 40 peaks, 20 of which have been identified. The oligosaccharide profile observed in the feces was similar to the pattern of oligosaccharides present in the milk ingested. A significant difference was represented by the almost complete absence of lactose in the feces of all infants and of sialyllacto-N-tetraose a and disialyllacto-N-neotetraose in 3 samples. A substantial reduction of lacto-N-tetraose was observed in 5 samples. Our results demonstrate that the oligosaccharide profile in the feces is similar to that of the ingested milk. Approximately 40% to 50% of the total ingested oligosaccharides can be found in feces of breast-fed infants.

Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency.

The Kabuki syndrome is characterized by mental retardation (mild-to-moderate), skeletal anomalies, typical facial appearance and post-natal growth deficiency. The authors describe two patients with Kabuki syndrome and proven growth hormone deficiency. The first patient has been on GH replacement therapy for 4 years; the second for 11 years. On the basis of a sufficiently long follow-up period the Authors discuss the advisability of replacement therapy with growth hormone in patients with Kabuki syndrome.

Peculiar facies, obesity, cleft lip and palate, growth hormone deficiency and mental retardation: a new syndrome?

A female child with peculiar facies, obesity, cleft lip and palate, growth hormone deficiency and mental retardation is described. The present case does not appear to fit any of the known syndromes.

Oligosaccharides in human milk during different phases of lactation.

Twenty-one oligosaccharides of human milk were quantified by high-performance anion-exchange chromatography. Milk samples were collected from 18 mothers during the first 3 mo of lactation. The data show that the highest amount of all oligosaccharides is present at day 4 postpartum (20 g l(-1)) and then decreases by about 20% at day 30 of lactation. The protective role played by these substances against different infectious agents, in different organs and systems of the breastfed baby, is emphasized.

Minor cerebral alterations observed by magnetic resonance imaging in syndromic children with mental retardation.

OBJECTIVE: To evaluate the anomalies of the central nervous system (CNS) by magnetic resonance imaging (MRI) in normal subjects and in syndromic patients. METHODS AND MATERIAL: Seventy-three normal subjects and 50 different syndromic patients with mental retardation (from 3 months to 16 years) were studied utilizing several morphometric parameters (degree of myelination of the white matter, evaluation of liquoral spaces, septo-caudate distance, Evans index, Aboulezz method, and length, width and angles of corpus callosum). RESULTS: A high frequency of anomalies of the corpus callosum, the Chiari anomaly and alterations either of the white matter or of the ventricular and periencephalic system have been observed. CONCLUSION: The authors point out the importance of cerebral MRI in the study of CNS in patients with malformation syndromes. The present research, carried out on a large number of both normal subjects and patients with malformation syndromes, represents one of the first systematic studies in this field.

[Echographic and sonographic study of ovaries in girls with precocious puberty]. / Studio ecografico e flussimetrico delle ovaie in bambine con pubertà precoce.

The aim of this study is the biometrical and morphological evaluation of the ovaries by sonography and the study of the haemodynamics of the ovarian artery flow by doppler ultrasound in 14 girls with precocious puberty and in 33 control subjects. All people ranged in age from 5 to 7 years. The gonadian mean volume and the mean pulsatility index have been evaluated. A significant difference in the ovarian volume has been found between patients and controls. No index between the two groups. We conclude that the doppler ultrasound needs a larger number of cases to evaluate its validity in girls with precocious puberty.

Stratton-Parker syndrome: confirmation of a new entity.

Recently, Stratton and Parker [Am J Med Genet 32:169-173, 1989] reported on a child with a previously undescribed combination of growth hormone deficiency, wormian bones, dextrocardia, brachycamptodactyly, and other midline defects. We report on another patient with similar clinical signs.

MRI study of the corpus callosum using the Talairach grid.

The authors show how the Talairach grid may be applied to MRI for the study of the topography of the corpus callosum. Thirty-eight patients with malformative syndromes and 53 controls were studied to demonstrate the reliability of this method.

[Malformation syndromes and deafness]. / Sindromi malformative e sordità.

Deafness is one of the most common clinical findings in patients affected by malformation syndromes. It may be congenital, neurosensory or transmissive in nature, or acquired as the consequence of phlogistic processes due to craniofacial malformations. It is important to identify and classify the hypoacusis in order to start therapy as early as possible, using surgery or prosthesis according to the indications, to avoid the child suffering both verbal and intellectual impairment.

[A case of focal necrotizing granulomatous hepatitis in childhood]. / Su un caso di epatite granulomatosa necrotizzante a focolai, in età pediatrica.

Granulomatous hepatitis make up a group of conditions of various aetiologies. The diagnosis of granulomatous hepatitis is histologic, since the aspect of the granulomatous lesion is not always indicative of a specific disease. It is important to take into consideration for the aetiologic diagnosis a good response to a specific therapy or the execution of complementary examinations. The 25% of granulomatous hepatitis remain undiagnosed.

[Progressive pseudorheumatoid arthropathy in childhood (late spondylo-epiphysial dysplasia with progressive arthropathy). Description of a case]. / Artropatia progressiva pseudoreumatoide dell'infanzia (displasia spondilo-epifisaria tarda con artropatia progressiva). Descrizione di un caso.

The progressive pseudorheumatoid arthropathy of childhood is a very rare disorder that follows an autosomal recessive mode of inheritance, and which can be framed in the group of the spondyloepiphyseal dysplasia tarda. This affection is characterized by specific radiological anomalies and by clinical signs resembling an inflammatory disease, with the normality of the routine laboratory studies. The authors describe a case recently come to their attention.

ins(6;11) in a case of peripheral T-cell lymphoma.

Cytogenetic investigation of lymph node-derived cells taken from a peripheral T-cell lymphoma patient revealed an insertion of the segment 11q21q25 into the band p22 of chromosome #6 as the only anomaly. The probable role of the three rearranged chromosomal regions on the development of this neoplasia is discussed.

Fatty acid pattern of red blood cell membranes and risk of ischemic brain infarction: a case-control study.

The fatty acid composition of red blood cell membranes (which reflects dietary fat intake) was studied in 28 male patients with recent (less than 3 days) ischemic stroke and 56 matched controls. Fifteen fatty acids were measured by means of chromatographic analysis. Percentages of linoleic, 22:5, and 22:6 acids were significantly lower in red blood cell membranes of stroke patients than in those of matched controls. The results suggest that a low unsaturated fatty acid diet could be an independent risk factor for ischemic brain infarction.

A new case of familial paracentric inversion of chromosome 2.

A phenotypically otherwise normal homosexual man with a 46,XY,inv(2)(q21q33) karyotype inherited from his mother is described. The breakpoints were different from those observed in the only other case of familial paracentric inversion of chromosome 2 reported in the literature, but in our case they seem to correspond to constitutive and aphidicolin-induced fragile sites.