Ornithine transcarbamylase deficiency: neonatal diagnostic

OBJECTIVE: To drive pediatrician's attention to a urea cycle enzyme deficiency. The prognosis is directly related to the early diagnosis and treatment. METHODS: We describe a newborn patient who present lethargy, vomitus and seizures 48 hours afther birth. We investigated this patient and the diagnosis of ornithine transcarbamylase deficiency was made. Treatment was started immediately. RESULTS: We followed the patient until he was 1 year old, when he had liver transplant with a good outcome of the disease. CONCLUSION: The ornithine transcarbamylase deficiency is a rare and very serious disease. Any newborn whose evolution is similar to that of a septic patient without any infection must be investigated for this disease. The prognosis is directly related to the early diagnosis and treatment.     

The surgical risk in sleep apnea: the implications for tonsillectomies

Hypertrophy of tonsils or adenoids is the commonest cause of obstructive sleep apnea (OSA) in children. Adenotonsillectomy (AT) is frequently curative in children with OSA but riskier than the same procedure without OSA. It is crucial to identify OSA among the patients programmed for AT because they require a detailed evaluation, frequently including total or limited polysomnogram. Patients with OSA need a continuous surveillance before, during, and after surgery, ideally in a referral hospital.     

The salivary amylase, lactate and electromyographic response to exercise

Twelve trained young males (age: 24 +/- 5 years) performed an incremental test to exhaustion during which capillary blood and saliva samples were obtained to determine the blood lactate (LT) and salivary amylase (T(sa)) thresholds. The root mean-square voltage of electromyographic activity (rms-EMG) of the vastus lateralis muscle was also recorded to detect the electromyographic threshold (EMG(T)). No significant difference was found between the exercise intensity corresponding to the LT, T(sa) or EMG(T).     

An evaluation of tissue polypeptide antigen (TPA) in the two bronchoalveolar lavage fractions of lung cancer patients

BACKGROUND: It has been proven that cytokeratins (CKs) are useful tumor markers for the follow-up, treatment monitoring and prognosis evaluation of lung cancer and among these, tissue polypeptide antigen (TPA) plays an important role. Nevertheless, only a small number of studies have been reported about their diagnostic capacity. Bronchoalveolar lavage (BAL) can be divided into two fractions: bronchiolar (BF) and alveolar (AF). For the above reasons, our aims were (1) to analyze the diagnostic usefulness of TPA in the BAL of lung cancer patients and (2) to observe if, in lung cancer patients, TPA levels in the two BAL fractions are different. This should mean that the study of tumor markers in the BAL should be carried out in both fractions to increase their diagnostic capacity. METHODS: We studied 289 BALs divided into two phases. In phase I, TPA was analyzed in the BAL of six groups of subjects (healthy persons, chronic bronchitis, asthma, respiratory infections, diffuse interstitial pulmonary diseases and lung cancer). In phase II, TPA was studied in both BAL fractions of a group of patients with lung cancer. RESULTS: We observed that TPA levels were significantly higher in the BAL of patients with bronchogenic neoplasias. In these patients, TPA was increased in the BF of the lavage in relation to the AF. In smoker patients with pulmonary carcinomas, TPA was higher in the AF of the BAL than in the lavage of non-smokers. This did not occur in the BF. We found no relation between the TPA concentrations and cancer histology. CONCLUSIONS: We believe that TPA is a useful tumor marker with diagnostic capacity and this capacity is increased when it is studied in the two BAL fractions. Smoking habit may play a role in the secretion of tumor markers by the tumor cells.