ABSTRACT
Muscle-eye-brain disease (MEB) is characterised by congenital muscular dystrophy, structural brain malformations and eye abnormalities. We report a MEB case whose presenting sign was congenital blindness. She was investigated primarily for eye abnormalities at onset. She had bilateral retinal detachment and microphthalmia. Mild axial hypotonia and motor retardation were attributed to cerebral disorder in another center. Muscle biopsy showed mild myopathic changes and significant alpha-dystroglycan deficiency. Analysis of the POMGnT1 showed a novel homozygous mutation 1814G>C, causing p.Arg605Pro change. This case expands the clinical spectrum of MEB with unusually severe eye abnormalities compared to mild skeletal muscle and brain involvement.
Subject(s)
Abnormalities, Multiple/pathology , Brain/abnormalities , Brain/pathology , Eye Abnormalities/pathology , Muscle, Skeletal/pathology , Muscular Dystrophies/pathology , Abnormalities, Multiple/genetics , Child, Preschool , DNA Mutational Analysis , Eye Abnormalities/genetics , Female , Humans , Magnetic Resonance Imaging , Muscular Dystrophies/genetics , N-Acetylglucosaminyltransferases/genetics , Point Mutation , Sequence Homology, Amino AcidABSTRACT
OBJECTIVE: To verify whether adrenomedullin (AM) and nitric oxide (NO) concentrations are changed in the maternal and fetal circulation in pregnancies complicated by intrauterine growth restriction (IUGR) compared to normal pregnancies, and to determine any relationship between them. METHODS: Forty-six small for gestational age (SGA) and 34 appropriate for gestational age (AGA) infants were included in the study. Umbilical and maternal venous AM and NO concentrations were determined. RESULTS: Umbilical NO concentrations in SGA infants (mean +/- SD; 176.2 +/- 75.8 micromol/L) were significantly greater than in AGA infants (143.4 +/- 39.2 micromol/L) (p = 0.015). However, umbilical AM concentrations were similar in SGA and AGA infants with 14.2 +/- 4.4 pmol/mL and 14.5 +/- 6.2 pmol/mL, respectively (p > 0.05). There was no relationship between NO and AM levels in umbilical blood (r = 0.09, p = 0.40). No difference was found between either AM or NO levels in the maternal plasma of the two groups. CONCLUSIONS: We suggest that NO is increased in the fetoplacental circulation in SGA infants probably as a response to decreased blood flow, whereas AM is not. Additionally, increased NO in the fetoplacental circulation was found to be independent from AM secretion.
Subject(s)
Adrenomedullin/blood , Fetal Blood , Fetal Growth Retardation/blood , Nitric Oxide/blood , Pregnancy/blood , Adult , Delivery, Obstetric , Female , Humans , Infant, Newborn , Infant, Small for Gestational Age , Male , Placental CirculationABSTRACT
BACKGROUND: Screening for developmental dysplasia of the hip (DDH) is widely recommended for all infants to prevent disability from late diagnosis of dislocation of the hip. The present study evaluates the results of screening for developmental dislocation of hip in a clinic in Turkey over the course of 7 years. METHODS: Hospital records of 5798 infants who were examined regularly until walking age at Gazi University well child clinics between January 1995 and December 2001 were reviewed. Infants with known risk factors for DDH such as breech presentation, family history of DDH or swaddling, and of infants with physical examination findings suggestive of DDH, were referred to orthopedic surgeons for diagnosis. Based on this final diagnosis, sensitivity, specificity, positive and negative predictive values of risk factors and physical examination findings were calculated. RESULTS: Of the 5798 infants, risk factors were detected in the medical history of 111 infants, and in 14 infants a musculoskeletal deformity was detected. In 606 infants the physical examination findings were suggestive of DDH. Ten patients were subsequently diagnosed with DDH. The sensitivity, specificity, positive predictive value and negative predictive values of having a risk factor for DDH in history were 10.0%, 98.1%, 0.9%, 99.8%, and having abnormal hip examination findings were 100.0%, 88.9%, 1.6% and 100.0%, respectively. CONCLUSIONS: A careful history and physical examination is the cornerstone of DDH screening. Serial hip examinations performed during health examination visits provide an opportunity to identify DDH cases. The sensitivity of risk factors in history and physical examination findings together is high enough to be accepted as a screening tool.
