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The aim of this study was to describe pain management for newborn infants in neonatal intensive care units and neonatal units in the Nord–Pas-de-Calais.Patients and methods. – A questionnaire was distributed to the 52 physicians practising in the six neonatal intensive care units and six neonatal units. The questions were in reference to pain assessment, treatment and prevention.Results. – Forty questionnaires were completed (77%). Eleven units proclaimed an interest in neonatal pain management. The tool for assessing pain was the EDIN scale (Echelle Douleur Inconfort Nouveau-ne´, neonatal pain and discomfort scale). Analgesic treatment was administered in 100% of cases for the insertion of chest tube, in 92% of cases for the insertion of percutaneous central catheter in a ventilated newborn infant and in 91% of cases for necrotizing enterocolitis requiring a mechanical ventilation. Prescribed analgesic drugs were propacetamol, nalbuphin or fentanyl; a sedation by midazolam or diazepam was occasionally associated. Emla® cream was used before lumbar puncture in 80% of cases in the neonatal intensive care units and in 92% of cases in the neonatal units. Three neonatal intensive care units and four neonatal units administered a sucrose solution for blood samples.Conclusion. – At the time of study, the interest in the pain of the physicians working in neonatal intensive care units and neonatal units was inadequate to guarantee an optimum management of pain in newborn infants. Physicians’ approach remained heterogeneous. [Copyright &y& Elsevier]

Congenital pulmonary lymphangiectasia is a rare cause of respiratory distress in the neonatal period. Cardiac arrest may be its first manifestation.Case report. – We report the case of a full term newborn who suffered at 30 min of life a sudden cardiac arrest. Despite intensive support, the patient died 5 h later. Lung examination showed pulmonary lymphangiectasia.Conclusion. – Congenital pulmonary lymphangiectasia may be revealed by a sudden neonatal cardiac arrest. Pulmonary lymphangiectasia should be suspected in any newborn who develops early in life an unexplained refractory hypoxemia with radiographic reticulonodular images and uni or bilateral pneumothorax. The diagnosis is established at lung microscopy. [Copyright &y& Elsevier]

Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an autosomal-dominant (AD) inheritance pattern, but autosomal-recessive (AR) modes of inheritance have also been proposed. We performed whole-exome sequencing (WES) in members of nine unrelated families clinically diagnosed with AD IM to identify the genetic origin of the disorder. In eight of the families, we identified one of two disease-causing mutations, c.1978C>A (p.Pro660Thr) and c.1681C>T (p.Arg561Cys), in PDGFRB. Intriguingly, one family did not have either of these PDGFRB mutations but all affected individuals had a c.4556T>C (p.Leu1519Pro) mutation in NOTCH3. Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene. Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment., (Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Galactosemia is an inherited metabolic disorder due to a defect in one of the three enzymes required to fully metabolize the galactose in glucose: the galactose 1-phosphate uridyltransferase. Because this enzyme is present in the normal foetal liver since the tenth week of gestation, its defect cause congenital abnormality due to galactose accumulation, when the mother had taken milk during the pregnancy. It is mainly a liver pathology whereas the foetal cataract is rare. This latter is usually considered as the sole ophthalmic consequence of this disorder but exceptional ocular haemorrhages have also been described. We report the case of a neonate with galactosemia free from foetal cataract but presenting an unilateral vitreous haemorrhage. Retinal anomalies seen after vitrectomy are probably the source of the vitreous blood favoured by the coagulopathy associated with the neonatal disease. The causes of infant vitreous haemorrhages are often debated and their complications, especially severe amblyopia, require vitrectomy within the month following their discovery. In galactosemia, vitreous haemorrhage can be prevented by an early diagnosis and an appropriate treatment of the liver pathology.

Unlabelled: We report the fifth case of neonatal form of type C2 (NP-C2) Niemann-Pick disease with early and fatal respiratory distress. Eleven families presenting such cases are known to date in the world. Since December 2000, isolation of the underlying gene HE1/NPC2 and its mutations has allowed major advances in diagnosis., Case Report: Elisa was born in May 2000. NP-C2 disease was associated with severe respiratory distress leading to death at the age of four months. On the next pregnancy in September 2000, prenatal diagnosis was performed by means of biological tests that required four weeks response time. In December 2000, isolation of the HE1/NPC2 gene located to 14q24.3 and of some of its mutations allowed to characterize the patient as being homozygote for the nonsense mutation E20X. On the the two next pregnancies, prenatal diagnosis was performed at 12 SA, in 48 hours, by the means of mutation analysis. The last fetus was heterozygote for the mutation E20X, allowing the birth at term of a healthy male newborn baby., Conclusion: Niemann-Pick type C disease is a rare lysosomal lipid storage disease with severe prognosis. It is characterized by abnormalities of intracellular transport of endocytosed cholesterol. Diagnosis relies on biological tests that require cultured cells. Genetic heterogeneity defines two different genetic complementation groups C1 and C2. Severe and early respiratory distress is more likely to be associated with the rare type C2. Since December 2000, after identification of the disease-causing mutations in the proband, mutation analysis of gene HE1/NPC2 on direct chorionic villus samples allows early and fast (48 hours) prenatal diagnosis.

According to several recent surveys, around 50% of the deaths occurring nowadays in French neonatal intensive care units result from a medical decision. This has led French neonatologists to set up guidelines for end-of-life decisions and practice in the perinatal period, which are presented in this paper. It covers definitions, clinical situations, ethical principles, obligations of the medical and nursing staff, and specific conditions where dilemmas occur.

According to several recent surveys, 50% of deaths occurring in neonatal intensive care units in France occur subsequent to a medical decision. The French Neonatal Group therefore decided to publish guidelines for practice. These guidelines present: definitions, clinical situations, ethical principles, obligations of the medical and nursing staff, and specific conditions where dilemmas occur. These guidelines focus on the obstetrico-pediatrics relationship.

Background: The aim of this study was to determine the influence of medical and non-medical factors on perinatal health in an underpriviledged area, the ex-coal mines of Lens (Pas-de-Calais)., Population and Methods: This prospective study concerned 1,000 women who delivered in the maternity hospital of Lens between January 5, 1993 and May 13, 1993. The relationships between preterm delivery, low birth weight and maternal socioeconomic and cultural characteristics were analyzed., Results: The women included presented adverse pregnancy outcomes. Preterm delivery, low birth weight and neonatal transfer rates were respectively 6.9%, 7.3% and 12.7% higher than the average regional rates. In contrast with these results, antenatal care could be considered correct or even better. The poor socioeconomic status of the population appeared to be a very significant perinatal risk factor., Conclusion: At present, in an unfavourable regional conjuncture, socioeconomic and cultural factors have adverse effects on perinatal morbidity and mortality independent of medical factors like prenatal care. The prevention of poor perinatal outcome should be based on these data. Not the access to the health care system but the manner of dispensing health care should require great consideration.

In the French region Nord-Pas-de-Calais a Public Health action was undertaken in order to set up a training program for neonatal resuscitation for the maternity-hospitals personnel. The incidence and severity of meconium aspiration among the population of children admitted to the neonatal intensive care unit of Lille University Hospital during two 15 month-periods of time, before and after the training, were compared. The number of neonates who presented with meconium aspiration decreased from 54 during the first period to 9 during the second, i.e. from 7.2 to 1.3% with respect to the total number of hospitalized patients (p less than 0.001). On the contrary, the number of deaths did not decrease significantly. This regression of the meconium aspiration gives evidence for an improved quality of care at birth. Even if training is not the only factor, this evolution gives argument in favour of the efficacy of such actions.

Hereditary multiple atresias involving the gastrointestinal tract from pylorus to rectum are the most unusual form of intestinal atresia; the type of inheritance was suggested to be autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome can be autosomal recessive or X-linked. We report on 3 sibs with multiple-level intestinal atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents of those children were healthy and nonconsanguineous. To our knowledge, this is the first report of the association of multiple gastrointestinal atresias and immunodeficiency which appears to have an autosomal recessive pattern of transmission. Our family report suggests that, in the presence of multiple gastrointestinal atresias, attention should be given to possible associated immunological disorders.

In 18 prematures (gestational age less than 32 weeks), an aqueous monohydrated caffeine colloidal gel was administered topically. High plasma levels were rapidly obtained with a loading dose divided in 4 applications by massaging, 1 ml of gel per kg body weight, at 12 hour intervals (18 mg caffeine base/kg). Maintenance was then instituted with a dose of 0.5 ml/kg/day. Treatment was initiated before 8 days of life, in children under assisted ventilation but without severe pulmonary involvement, during the period of weaning from the respirator. A good local and general tolerance was invariably observed and remarkable therapeutic efficacy was obtained.

127 infants were born alive before the 32nd week of gestation in the H. Salengro obstetrical unit from the University Hospital of Lille from January 1980 to December 1985. During this period the annual number of deliveries was constant, 2700. Two periods were considered, 1980-1982 and 1983-1985. The number of such premature infants increased slightly: from 56 to 71. The most striking feature was the dramatic increase in infants born after induction of delivery for fetal reasons. Another finding is the statistically significant lowering of gestational age and birthweight of the spontaneously born infants. These trends counterweight the efficacy of the policy of prevention. When considering the morbidity and the mortality, hyaline membrane disease still plays a preeminent role in this population.

Follow-up studies of low birth weight infants concern usually infants selected on the basis of either the birthweight--inferior or equal to 1500 g--or the gestational age: the upper limit is 31 or 32 weeks. To determine the most pertinent criterium, mortality and neurodevelopmental outcome at two years were compared in 3 groups, selected on the above criteria from a cohort of 369 infants with a birthweight below 2,000 grams admitted in 1983 in the neonatal unit of the University hospital of Lille. Under 1501 grams the rate of small for gestational age infants is high: it could be a part of the explanation for the high rate of minor sequelae. When cohorts are selected on the basis of gestational age, it appears that mortality is low at 32 weeks but the rate of major and moderate sequelae is still high: that fact must be considered when premature induced delivery comes in discussion. Because these criteria select different high risk populations, mortality and neurodevelopmental follow-up studies should include all infants with gestational age inferior or equal to 32 weeks and/or birthweight inferior or equal to 1,500 grams.

Neonatal arterial hypertension is usually related to an acquired renovascular disease. An increasing number of cases has been reported during the last 10 years, because of the more frequent survival of very sick neonates and the practice of umbilical arterial catheterization. Improved monitoring of arterial pressure in the infant allows an early diagnosis leading to an efficient medical treatment. Available drugs are now accurate to control arterial hypertension and improving vital prognosis. Later outcome claims for long term survey.

A child was born at the 37th week of pregnancy with hydrops fetalis. Hydramnios and hydrothorax had been proven by fetal ultrasonography. No fetal or maternal etiology was found. At age 4 days, at the beginning of enteral nutrition, the pleural effusion became characteristic of chylothorax. Recovery occurred after 2 weeks of parenteral nutrition. Chylothorax might be an unrecognized etiology of non immune hydrops fetalis. The relationships between both conditions and the interest of prenatal treatment are discussed.