Prospective study on the prevalence and associated risk factors of cryptorchidism in 6246 newborn boys from Nice area, France.

To assess the incidence and risk factors of cryptorchidism in Nice area. A 3-year prospective study was conducted at two maternity wards involving neonatal screening of boys born ≥34weeks of amenorrhoea. Methodology was strict with examination at birth, 3 and 12months by the same paediatrician. Two strictly matched controls were included for each case. Information on child and parents (medical history, pregnancy, lifestyle) was recorded using medical chart and self-administered questionnaires. A total of 102 of 6246 boys were born with cryptorchidism (prevalence 1.6%, 95 included). Half of them were still cryptorchid at three and 12months with, however, 10% of secondary re-ascent (recurrent cryptorchidism) at 12months, justifying long-term follow-up. Cryptorchidism at birth was associated with instrumental delivery, inguinal hernia and urogenital malformations, particularly micropenis and paternal history of cryptorchidism. Our results suggest that maternal exposure to anti-rust or phthalates could be a risk factor, whereas eating fruits daily seemed somewhat protective. Prevalence of cryptorchidism in our area is on the lower bracket compared with other countries, and is associated with both familial and environmental risk factors.

[Infant coma in the emergency department: 2 cases of MCAD deficiency]. / Coma du nourrisson aux urgences: 2 cas de déficit en MCAD.

Medium-chain Acyl-CoA dehydrogenase deficiency (MCAD) is one of the most common fatty acid oxidation disorders. Clinical manifestations can be serious and lead to death if unrecognized. They are not specific and can mimic meningitis or an acute intestinal intussusception in its neurological form. Early recognition of MCAD and presymptomatic treatment of intercurrent illness improve the prognosis over the short- and long-term. MCAD deficiency satisfies the major criteria for newborn screening. We report the cases of 2 patients whose presentation was typical and severe. Early diagnosis of MCAD deficiency helped to start a simple treatment in both patients aimed at preventing further decompensation.

[A cause of intracerebral calcifications that should be known: pseudohypoparathyroidism Ib]. / Une cause de calcifications intracérébrales à connaître: la pseudohypoparathyroïdie de type Ib.

In children, pseudohypoparathyroidism (PHP) is a rare but classical cause of basal ganglia calcifications. It is caused by resistance to parathormone (PTH). Hypocalcemia, which may be symptomatic, is its main feature. We report the case of a 13-year-old boy, affected by type Ib PHP revealed by hypocalcemia and seizures, with basal ganglia calcifications on the CT scan. We describe the characteristics of the 2 main types of PHP and emphasize the search for this disease when basal ganglia calcifications are discovered, even fortuitously, on a cerebral CT scan.

Prenatal diagnosis of a craniopharyngioma: a new case with radical surgery and review.

CASE REPORT: A case of the antenatal diagnosis of a craniopharyngioma with radical surgery in the neonatal period is reported. REVIEW OF THE LITERATURE: We have reviewed the literature of such cases in an attempt to isolate specific features in this age group and to determine the appropriate management. Only six cases of the truly antenatal diagnosis of craniopharyngiomas have been reported. Diagnosis has resulted from routine ultrasound during pregnancy or from polyhydramnios. Clinically, there is often macrocephaly due to hydrocephalus or a significant-sized tumor. CONCLUSIONS: Management of these rare cases is controversial with high postoperative mortality and significant morbidity, including panhypopituitarism, visual disturbance, and neuropsychological disorders. From the available literature, no conclusions concerning the management can be drawn at present, due to the rarity of early surgical intervention. Our case, despite the lack of important follow-up, seems to confirm the possibility of attempting radical surgery in the neonatal period as a result of advances both in surgical techniques and in neonatal intensive care.

The adapter protein, Grb10, is a positive regulator of vascular endothelial growth factor signaling.

Vascular endothelial growth factor (VEGF) is an important regulator of vasculogenesis and angiogenesis. Activation of VEGF receptors leads to the recruitment of SH2 containing proteins which link the receptors to the activation of signaling pathways. Here we report that Grb10, an adapter protein of which the biological role remains unknown, is tyrosine phosphorylated in response to VEGF in endothelial cells (HUVEC) and in 293 cells expressing the VEGF receptor KDR. An intact SH2 domain is required for Grb10 tyrosine phosphorylation in response to VEGF, and this phosphorylation is mediated in part through the activation of Src. In HUVEC, VEGF increases Grb10 mRNA level. Expression of Grb10 in HUVEC or in KDR expressing 293 cells results in an increase in the amount and in the tyrosine phosphorylation of KDR. In 293 cells, this is correlated with the activation of signaling molecules, such as MAP kinase. By expressing mutants of Grb10, we found that the positive action of Grb10 is independent of its SH2 domain. Moreover, these Grb10 effects on KDR seem to be specific since Grb10 has no effect on the insulin receptor, and Grb2, another adapter protein, does not mimic the effect of Grb10 on KDR. In conclusion, we propose that VEGF up-regulates Grb10 level, which in turn increases KDR molecules, suggesting that Grb10 could be involved in a positive feedback loop in VEGF signaling.

The lung scan in patient selection for lung volume reduction surgery.

UNLABELLED: The lung scan is one of the most important diagnostic tests used for selecting candidates for lung volume reduction surgery (LVRS) and for determining the actual percentage of lung to be resected during the surgery (McKenna R, personal communication, 1997). This article describes the anatomical quantitation of the lungs. METHODS: We used automatic and manual regions of interest in the posterior, and both posterior obliques of lung perfusion images to calculate the percent function in each individual lung lobe. RESULTS: We evaluated 172 patients with this technique. Subsequently 136 of these patients had LVRS. CONCLUSION: The anatomical placement of regions of interest in the lung perfusion image aids the thoracic surgeon in selecting LVRS candidates and in determining the amount of lung to be resected during surgery.

[Leukoencephalitis with hemiplegia during chickenpox]. / Leucoencéphalite avec hémiplégie au cours d'une varicelle.

BACKGROUND: Chickenpox encephalitis is usually mild and often presents as an acute cerebellar ataxia. Seizures and coma are uncommon. CASE REPORT: A 4-year old girl presented generalized seizures. Two days after the onset of chickenpox, she developed ataxia and left hemiparesis on day 3, followed by left hemiplegia after 24 hours. The cerebral scan showed areas of subcortical hypodensity compatible with leuko-encephalitis. The EEG showed lesions of acute leuko-encephalitis located in the right sub-cortical temporo-fronto-parietal area. The patient was given cortico-steroid and recovered slowly but completely. CONCLUSIONS: Hemiplegia, an exceptional event during the course of chickenpox, makes the diagnosis of chickenpox leuko-encephalitis difficult; IRM appears to be a contributing factor.

Total parenteral nutrition with fat emulsions during pregnancy--nutritional requirements: a case report.

After a corrosive burn of the upper gastrointestinal tract leading to a severe dysphagia and to a weight loss of 15 kilograms, a 21-year-old female was treated by total parenteral nutrition (TPN) during the last 7 weeks of pregnancy. TPN by complete nutritive mixtures comprised daily crystalline amino acid solutions and as energy sources glucose plus lipids, the latter representing 43% of the nonprotein calories. A term normal 2800 gram female was delivered by cesarian section. This case report demonstrates the absence of any side effects on pregnancy related to fat emulsions used in usual proportions. Among the nutritional parameters studied here, the variations of weight and creatinine height index seem to be the best indicators of the maternal nutritional status in these cases. Approximately 50 kilocalories and 220 milligrams of nitrogen per kilograms body weight daily seem to be sufficient to restore and to maintain the maternal nutritional conditions and fetal growth.