ABSTRACT
Increased serum level of malondialdehyde (sMDA) in neonates with hypoxic-ischaemic encephalopathy (HIE) was evaluated as a possible criterion for determining HIE severity. Mean body weight and gestational age in a healthy control group of neonates (n = 63) and in neonates with HIE (n = 69) were statistically similar. Apgar scores at 1 and 5 min for the HIE group were significantly lower than for the control group. The mean sMDA level for the HIE group was significantly higher than the control group. Within the HIE group, the sMDA level for neonates with Sarnat's grade II and III was significantly higher than for those with Sarnat's grade I. There was a significant correlation between Sarnat's grading and the sMDA level. The sMDA level was significantly higher for neonates who died (n = 20) compared with those who survived (n = 49). In conclusion, the sMDA level was highest in neonates with HIE and correlated with HIE severity. The sMDA concentration could, therefore, be used as a criterion for predicting disease severity.
Subject(s)
Asphyxia Neonatorum/blood , Hypoxia-Ischemia, Brain/blood , Malondialdehyde/blood , Female , Gestational Age , Humans , Infant, Newborn , Male , Pregnancy , PrognosisABSTRACT
Classical neonatal diabetes mellitus is defined as hyperglycemia that occurs within the first month of life in term infants. It can be either permanent or transient. Cerebellar agenesis and permanent neonatal diabetes has been previously reported as a new autosomal recessive disorder. Pancreas Transcription Factor 1 Alpha (PTF1A) mutations have been related with this constellation of abnormalities. Here we report a new case of cerebellar agenesis and neonatal diabetes mellitus whose parents are PTF1A mutation carriers.
Subject(s)
Cerebellum/abnormalities , DNA Mutational Analysis , Diabetes Mellitus, Type 1/genetics , Transcription Factors/genetics , Cerebellum/parasitology , Consanguinity , Cordocentesis , Diabetes Mellitus, Type 1/diagnosis , Fetal Growth Retardation/genetics , Frameshift Mutation , Genetic Carrier Screening , Humans , Infant , Infant, Newborn , Magnetic Resonance Imaging , Male , Pedigree , Respiratory Distress Syndrome, Newborn/diagnosis , Respiratory Distress Syndrome, Newborn/geneticsABSTRACT
Bruck syndrome is characterised by osteogenesis imperfecta and arthrogryposis multiplex. In some patients, mutations in the lysyl hydroxylase 2 gene (PLOD2, 3q23-q24) have been demonstrated. A male newborn with Bruck syndrome is reported.
Subject(s)
Abnormalities, Multiple/diagnosis , Arthrogryposis/diagnosis , Osteogenesis Imperfecta/diagnosis , Consanguinity , Fatal Outcome , Humans , Infant , Male , Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase/genetics , SyndromeABSTRACT
Schwartz-Jampel syndrome is a heterogeneous autosomal recessive syndrome defined by myotonia, short stature, bone dysplasia and growth retardation. Three types have been described: type 1A, usually recognized in childhood, with moderate bone dysplasia; type 1B similar to type 1A but recognizable at birth, with more prominent bone dysplasia and type 2, a rare, more severe form with increased mortality in the neonatal period. In this paper we report three pediatric cases, one with neonatal manifestation.
Subject(s)
Osteochondrodysplasias/genetics , Abnormalities, Multiple/genetics , Child, Preschool , Female , Humans , Infant, Newborn , MaleABSTRACT
Sternal malformation/vascular dysplasia complex was described by Hersch et al. in 1985. The principle findings include cleft of the sternum covered by an atrophic skin, a midline abdominal raphe and hemangiomatosis. The inheritance pattern seems to be sporadic. We report a newborn baby with sternal defect, cleft lip and palate, supraumbilical raphe and hemangiomas.
Subject(s)
Abnormalities, Multiple , Facial Neoplasms/congenital , Hemangioma/congenital , Sternum/abnormalities , Umbilicus/abnormalities , Cleft Lip , Cleft Palate , Female , Humans , Infant, NewbornABSTRACT
The genetic disorders causing decreased fibrinogen synthesis may be caused by heterozygous (hypofibrinogenemia) or homozygous (afibrinogenemia) deficiency. The consequences of the disorders are gastrointestinal bleeding, cord bleeding, eccymoses, subcutaneous hematomas and hemarthroses especially due to traumatic delivery in the neonatal period. Laboratory evaluation of the patient with hypofibrinogenemia reveals prolongation of thrombin time, partial thromboplastin time, prothrombin time and decreased fibrinogen level. We report a 21 days old, congenital hypofibrinogenemia case with cord bleeding.
ABSTRACT
The activity of erythrocyte pyruvate kinase (PK), one of the most important enzymes in the anaerobic glycolytic pathway, was measured in a total of 57 healthy (22 term and 35 preterm) infants. The mean PK activity was 8.98 +/- 3.43 IU/gHb in term and 16.56 +/- 7.26 IU/gHb in preterm infants. The mean PK activity was significantly higher in preterm babies than term infants (16.56 +/- 7.26 IU/gHb and 8.98 +/- 3.43 IU/gHb, respectively) (P < .001). A significant negative correlation was found between gestational age, birth weight, and PK activity (r = 0.40, P < .05; r = -0.37, P < .05). No correlation was found between postnatal age and PK activity in both preterm and term infants. The increased PK activity in preterm babies was thought to be due to increased glycolytic activity and energy production in these infants.
