ABSTRACT
To review the clinical presentation and the efficacy of a new drug as NTBC [2-[nitro-4-trifluoromethylbenzoyl]-l -3-cyclohexanedione] in Libyan children with acute and sub acute form of Tyrosinemia type 1. The study was done at Alkhadra hospital during the period [2/1999 - 6/2003]. The diagnosis was suspected clinically and confirmed by measuring urinary succinylacetoaceton and the other biochemical profile of tyrosinemia. Two patients were treated by using NTBC, which is only available for compassionate use, and phenylalanine/tyrosin restricted diet, the 3rd patient was treated by diet restriction only.The response to this therapeutic approaches was evaluated clinically and biochemically. The patients with primary presentation manifested during infancy by abdominal distention, hepatomegaly with or without rickets showed remarkable clinical and biochemical improvement in patients subjected to combined therapeutic approach and was superior to the results of the patient who was treated by restricted diet only. In limited number of patients worldwide the NTBC has been used with encouraged In Libyan children who present with abdominal distension, hepatomegaly, with or without rickets and the other non specific presentation, it is worth suspecting Tyrosinemia type 1 clinically and confirm it biochemically, then to treat by using NTBC and diet restriction regime
Subject(s)
Humans , Male , Female , Child , Disease Management , Tyrosinemias/drug therapyABSTRACT
Reevaluation of neonatal services after the initial perinatal mortality assessment, which was carried out at neonatal unit in Algalla maternity hospital, which have been moved in 1992 to Alkhadra general hospital, the transfer included medical and nursing staff and the equipment. It is a retrospective study over a period of one year [1/1/1995-31/12/1995] where the medical files or admitted newborn in the neonatal unit and the registration book at the labour room and operating theater were reviewed. The review included the history, clinical examination, Investigation, treatment and outcome. We reviewed the nursing staff and the medical equipment. The total delivery was 15407 births include 153 stillbirth and 15254 were live birth 7.8% of total live births were admitted. 246 babies died in the 1[st] week of life and the calculated perinatal mortality rate was 25. 8/1000 total births, Stillbirth contributed to 38.35% of total perinatal death and the death in the 1st week was 61.65%. One third [18.3%] of the 1[st] week death died in the 1[st] 24 hours. The main causes of admission were respiratory distress 49.3%, prematurely 31.2%, jaundice 29.3%, infant of diabetic mother 23.4%, birth asphyxia 13.4%, sepsis 12-1% and congenital malformation 8.2%. The main associated causes of early neonatal death in general were respiratory distress 79%, birth asphyxia 41%, sepsis 32%, and congenital anomalies 10%. The main association with preterm death were respiratory insufficiency 85.14%, birth weight below 1.5 kg 52.2%, sepsis 23.2%, hypoglycemia infant of diabetic mother 8.1%, congenital malformation 6% and asphyxia 5%, Inadequate number of experienced nursing staff [one third of international recommendation] and lack of proper maintenance of medical equipment were among the factor, which affected the neonatal care. On comparison with the study at Algalla maternity hospital five years previous to our study, we found no improvement in the perinatal mortality rate or morbidity pattern in neonates, which calls for: 1-Tighter control of preventable diseases like infection, prematurity, some congenital malformation, IDM, birth asphyxia and hemolytic diseases.2-Early surgical interference in treatable congenital deformities by improves our facilities both quantitatively and qualitatively. 3-Further her training for adequate number of nursing staff. 4-Center for periodic maintenance of medical equipment