[Parental impact of 3D/4D ultrasonography in fetal cleft lip and palate]. / Impact parental de l'échographie 3D/4D des fentes labiopalatines.

OBJECTIVE: Prenatal diagnosis of cleft lip and palate has been available for over 25 years. 3D ultrasound has significantly improved prenatal screening and perinatal care. Surface rendering of the fetal face is frequently asked by parents during exam and it has been shown to substantially improve parental-fetal bonding. However, little is known about the parental impact of surface ultrasound of the abnormal fetal face. We thus decided to assess parental feelings after 3D surface rendering of the fetal face in cleft lip and palate. PATIENT(S) AND METHOD: Between January 2003 and December 2006, a questionnaire was systematically proposed after birth to the parents who had 3D examination during pregnancy for lip and cleft palate. Analysis of results was performed retrospectively. RESULTS: Twenty-three couples answered to inclusion criteria, 12 have been contacted, 9 responded. 3D ultrasound was not perceived as disturbing in 78% of parents. On the contrary 3D pictures had a positive effect and better prepare parents to birth. All of them even more considered that it should be systematically performed. DISCUSSION AND CONCLUSION: Prenatal diagnosis of cleft lip and palate is known to improve parental well-being during the perinatal period. Furthermore, in addition to improved diagnosis, 3D ultrasound also provides a better understanding and acceptance of the malformation than 2D examination. The parental impact of 3D ultrasound is positive supporting and strengthening a systematic use in isolated fetal lip and cleft palate.

[Oncoplastic technics with nipple-areolar complex resection for the treatment of central breast cancers]. / Chirurgie oncoplastique pour le traitement des tumeurs mammaires centrales.

Central breast cancer has long been an indication for mastectomy. Plastic surgical techniques adapted to cancer (oncoplastic surgery) have made it possible to offer breast cancer patients conservative surgery with resection of the nipple-areolar complex (NAC). We evaluated carcinologic results and cosmetic outcomes as a function of the oncoplastic technique used. We performed a retrospective study in 47 patients with central breast cancers undergoing breast-conserving with NAC resection. Carcinologic results were assessed by calculating local and metastatic recurrences rates. Cosmetic results were evaluated on four criteria assessed by the patient then by two surgeons. The mean age of the patients was 59.8 (44-84) years. The mean tumour diameter was 17.4 (6-39)mm. Histological involvement of the nipple is present in 53% of the cases. No local recurrence, neither death was observed at 4.5 years median follow-up. One patient had liver metastatic recurrence at 83 months. Cosmetic results were assessed in 33 patients. Round-block provided better aesthetic results: the shape of the breast was considered very good or satisfactory for 90% of the surgeons with the round-block technique and for 46% with transverse incision (P=0.02). Breast-conserving surgery is feasible in selected patients with T1 or T2 central breast cancers, with no impact on the risk of local recurrence. NAC resection is essential especially when the patients have clinical signs of nipple involvement. It provides satisfactory cosmetic results, especially with the round-block technique, possibly associated with nipple reconstruction using the "cat-design" technique developed by our team.

[Anaphylaxis and anaphylactic shock]. / Anafilaxia y choque anafiláctico.

Term anaphylaxis means an immediate hypersensitivity reaction mediated by IgE that produces a clinical syndrome with systemic affection of variable severity. Its prevalence varies according to the habits of each region and of the studied population from 3.2 to 7.6 cases per 100,000 inhabitants per year. Anaphylaxis secondary to the food ingestion accounts for 30-50% of the cases. Some risk factors have been defined, among them the most important are asthma, food allergy and previous reactions to the same food. Biphasic anaphylactic reactions are those presenting a recurrence of anaphylactic symptoms, after the initial remission of them. Success of treatment is based on the early recognition of signs and symptoms and the instauration of treatment with adrenaline.

[Urticaria and angioedema]. / Urticaria y angioedema.

Urticaria is considered a heterogeneous group of diseases that share different patterns of skin reactions. The wide diversity in urticaria subtypes have been identified and this reflects partial understanding of the causes or factors that trigger it, as well as the molecular and cellular mechanisms that are involved in their physiopathology. The objective of this article was to make an extensive review of the literature to be able to offer the readers a complete information and updating on the basic, ethiologic and physiophatologic mechanisms and mainly to make a special emphasis on diagnosis and treatment of urticaria, promoting the continuous medical education.

Prenatal diagnosis of Aicardi-Goutières syndrome.

OBJECTIVES: Aicardi-Goutières syndrome is an autosomal recessive neurodegenerative disorder inducing cerebral atrophy, intracerebral calcification and developmental arrest. Diagnosis requires the presence of progressive encephalopathy with clinical onset shortly after birth, typical neuroimaging features associated with a raised blood and cerebrospinal fluid interferon-alpha level.A case of prenatal diagnosis of Aicardi-Goutières syndrome is reported. METHODS: An MRI performed at 26 gestational weeks showed bilateral calcifications and white matter abnormalities, cerebral anomalies typically described in this disease. The fetal blood analysis revealed an increase in interferon-alpha. RESULTS: Therefore, the prenatal diagnosis of Aicardi-Goutières syndrome in this fetus was based on the following facts: the familial background with the affected first child and consanguineous parents, a normal pregnancy and normal fetal growth, cerebral anomalies diagnosed on prenatal ultrasound and cerebral MRI, raised interferon-alpha in the fetal serum and no evidence of any infectious etiology. The autopsy performed postdelivery at 28 1/2 weeks' gestation confirmed the diagnosis of Aicardi-Goutières syndrome. CONCLUSION: To the best of our knowledge, this is the first prenatal diagnosis of this syndrome. Such a diagnosis may prove useful for families at risk as long as genetic screening is not available.