[Apnea of prematurity: what's new?]. / Apnées du prématuré : données récentes.

Prematurity apnea remains a major clinical problem that requires treatment choices which are sometimes difficult. Prematurity apnea occurs in most infants of gestational age at birth less than 33 weeks. It is a developmental disorder which usually reflects a "physiological" immaturity of respiratory control. However, neonatal diseases may be associated and play an additive role, resulting in an increased incidence of apnea. Careful screening should therefore be performed in order to make sure that no other factor than immaturity is involved in the occurrence of apnea. Short apnea (less than 10s, without hypoxemia and bradycardia), due to immaturity, are not clinically relevant. More prolonged apnea, that last for more than 15 or 20s, and / or apnea associated with bradycardia or oxygen desaturation, results in short-term disturbances of cerebral haemodynamics and oxygenation, which may negatively impact on neurodevelopmental outcome. Evaluating the immediate severity of apnea and the risks that apnea may affect long-term outcome remains a challenge. The choice of treatments is based on a few evidences. Caffeine citrate, which reduces the incidence of apnea, has been used for decades. However, a thorough evaluation of risks and benefits of this medication has been performed only recently. Caffeine citrate was found to be safe and resulted in unexpected benefits. In treated infants, compared with controls, indeed, a decreased incidence of the following complications was recorded: bronchopulmonary dysplasia at 36 weeks of conceptional age, patent ductus arteriosus, cerebral palsy at 18 months of age. Nasal CPAP can be used in association with caffeine citrate, when the latter is not effective enough.

[Abnormal ocular findings in the nursery and in the first few weeks of life: a mandatory, yet difficult and neglected screening]. / Anomalies oculaires en maternité et dans les premières semaines de vie: un dépistage obligatoire, difficile et négligé

Recommendations issued by the French Health Ministry include ocular screening in the first days of life and at 2 and 4 months. The aim is to detect ocular abnormalities requiring early treatment, in order to improve the prognosis. Paediatricians working in the nursery should therefore be trained in order to perform ocular screening, which requires using an ophthalmoscope. This is not yet common practice in all nurseries. Red-reflex is one of the most important elements of testing. Possible diagnoses suggested by abnormal red-reflex include retinoblastoma, or abnormalities of eye transparency, such as cataract. Any detected ocular abnormality requires specialised consultation. At the present time, paediatricians remain insufficiently aware and trained about ocular screening.

[Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences]. / Les anomalies de l'hepatocyte nuclear factor (HNF)-1beta : mécanismes biologiques, phénotypes et conséquences cliniques.

The hepatocyte nuclear factor-1beta encoded by the TCF2 gene plays a role in the specific regulation of gene expression in various tissues such as liver, kidney, intestine, and pancreatic islets and is involved in the embryonic development of these organs. TCF2 mutations are known to be responsible for maturity-onset diabetes of the young type 5, associated with renal manifestations. Several studies have shown that TCF2 mutations are involved in restricted renal phenotypes. In a recent study, TCF2 anomalies were detected in one third of patients with renal anomalies such as renal cysts, hyperechogenicity, hypoplasia, or single kidneys. Most patients have a complete deletion of the TCF2 gene. With de novo TCF2 anomalies, deletions were the most frequent anomaly. TCF2 anomalies were significantly associated with bilateral renal anomalies and bilateral cortical cysts. However, no genotype-phenotype correlation could be detected. The prenatal phenotype of TCF2 anomalies is mainly bilateral hyperechogenic kidneys. Abnormal renal function, detected in about one third of patients, was independent of the TCF2 genotype. The best parameter to predict renal outcome remains sonographic evaluation. However, progression of the TCF2 phenotype is common. In conclusion, TCF2 molecular anomalies are involved in restricted renal phenotype in childhood without alteration of glucose metabolism. Adequate metabolic follow-up of pediatric patients with a restricted renal phenotype has not yet been defined and consideration of prenatal diagnosis remains extremely difficult given the extremely large phenotypic variability within the same family.

[Management of laryngeal cancers]. / Particularités des cancers du larynx.

With 5,000 cases yearly, laryngeal carcinomas account in France for the third of squamous cell cancers of the upper digestive and respiratory tract. The crude survival rate is 50% at 5 years. Carcinomas of vocal cords are often diagnosed as early stages if dysphonia leads the patients to the ENT specialist within 2 weeks. Cure of the primary is achieved in 90% of the early stages by radiotherapy with narrow fields or partial surgery, with a 80% 5 years survival rate. Advanced tumors are often treated by total laryngectomy and postoperative radiotherapy. Supra-glottic cancers (epiglottis) are more serious. Unilateral dysphagia or upper cervical neck node often delay early diagnosis. A total laryngectomy is the commonest treatment. The 5 years survival rate of 40% is due to local and/or regional failures and metachronous cancers in head and neck, and radiotherapy remains the two major treatments. Primary prevention is based upon suppression of tobacco and reduction of alcoholic consumption, secondary prevention on resection of leucoplakia and close follow-up of patients with chronic laryngitis.