Superior discriminating value of ACTH‐stimulated serum 21‐deoxycortisol in identifying heterozygote carriers for 21‐hydroxylase deficiency

Background Congenital adrenal hyperplasia caused by classic 21‐hydroxylase deficiency (21OHD) is an autosomal recessive disorder with a high prevalence of asymptomatic heterozygote carriers (HTZ) in the general population, making case detection desirable by routine methodology. HTZ for classic and nonclassic (NC) forms have basal and ACTH‐stimulated values of 17‐hydroxyprogesterone (17OHP) that fail to discriminate them from the general population. 21‐Deoxycortisol (21DF), an 11‐hydroxylated derivative of 17OHP, is an alternative approach to identify 21OHD HTZ. Objective To determine the discriminating value of basal and ACTH‐stimulated serum levels of 21DF in comparison with 17OHP in a population of HTZ for 21OHD (n = 60), as well as in NC patients (n = 16) and in genotypically normal control subjects (CS, n = 30), using fourth generation tandem mass spectrometry after HPLC separation (LC‐MS/MS). Results Basal 21DF levels were not different between HTZ and CS, but stimulated values were increased in the former and virtually nonresponsive in CS. Only 17·7% of the ACTH‐stimulated 21DF levels overlapped with CS, when compared to 46·8% for 17OHP. For 100% specificity, the sensitivities achieved for ACTH‐stimulated 21DF, 17OHP and the quotient [(21DF + 17OHP)/F] were 82·3%, 53·2% and 87%, using cut‐offs of 40, 300 ng/dl and 46 (unitless), respectively. Similar to 17OHP, ACTH‐stimulated 21DF levels did not overlap between HTZ and NC patients. A positive and highly significant correlation (r = 0·846; P < 0·001) was observed between 21DF and 17OHP pairs of values from NC and HTZ. Conclusion This study confirms the superiority of ACTH‐stimulated 21DF, when compared to 17OHP, both measured by LC‐MS/MS, in identifying carriers for 21OHD. Serum 21DF is a useful tool in genetic counselling to screen carriers among relatives in families with affected subjects, giving support to molecular results.     

How political and social activism lead to a human rights approach to food and nutritional security in Brazil

An analysis is presented of a recent evolutionary process in Brazil of two political and social movements that eventually joined to further common goals of reducing food and nutritional insecurity, and incorporating human rights into national laws and policy measures. A brief history is provided as background. The promotion of human rights, particularly of economic, social and cultural rights provides an important link between recent political and social activism, and national efforts to reduce food and nutritional insecurity. Concrete results of political and social activism are examined, which include the 1999 National Food and Nutrition Policy, the 1999 Social Pact to Reduce Iron‐Deficiency Anaemia, renewed efforts to incorporate economic, social and cultural rights in the National Human Rights Plan, the establishment of a national food security and nutrition network, and the formation of State food security councils. Specific and generalised lessons are also drawn from the Brazilian experience.     

Asthme et trachéomalacie associés : aspects diagnostiques et thérapeutiques

An asthmatic girl was first hospitalized at age 2^9/12 years because of dyspnoea, lung consolidations and/or atelectasis, and rattling. Between ages 2^9/12 and 6^2/12 years, she required three hospitalizations in ICU out of nine hospitalizations for the same symptoms. Differential diagnosis of this difficult to treat asthma disclosed severe tracheomalacia and persistent asthma. Treatments given according to the clinical, radiological and functional findings failed to decrease frequency and severity of acute respiratory episodes. Eventually, positive pressure ventilation delivered at airway opening (via a mouthpiece) associated to active respiratory physiotherapy succeeded in removing atelectasis and quickly cured the five following acute episodes without any further hospitalization. This case report is about diagnosis procedure, intricate asthma and tracheomalacia, and open mind to unusual therapeutics that may disclose potential help.     

Developmental dental alterations in permanent teeth after intrusion of the predecessors: clinical and microscopic evaluation

Abstract – This case report describes the management of developmental dental alterations in permanent dentition as a consequence of severe intrusive luxation in its predecessors in a child of 2 years. At 10 years of age, this patient was referred for consultation due to lack of permanent maxillary right central and lateral incisors. Radiographic examination revealed impaction of hypoplasic permanent maxillary central incisor, absence of the lateral incisor and compound odontoma in region of the permanent maxillary lateral incisor. The odontoma was surgically removed and unerupted central incisor was placed in orthodontic traction over a period of 8 months. The central incisor presented with abnormal shape and was restored with composite resin. Odontoma histologic analysis was carried out through Hematoxylin and Eosin coloration and Scanning Electron Microscopy. Cement and osteocement formations were found in soft tissue, as well as some irregularly distributed dentine islands of tooth‐like structures, indicative of compound odontoma. We followed up this patient for 5 years and orthodontic management was successfully performed for correct alignment of the maxillary right central incisor impacted by compound odontoma.     

A successful outcome using a minimal invasive approach to manage a severe trauma to the primary maxillary incisor in a toddler

Abstract – Intrusive and lateral luxation are common traumatic injuries in children. The aim of this work is to report the successful conservative management of severe intrusion and lateral luxations of the primary maxillary central incisors in a 27‐month‐old patient.