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ABSTRACT: We describe for the first time a case of a 9-year old boy with co-existence of dystrophinopathy and Noonan syndrome (NS). Although the patient has a severe muscular clinical phenotype, consistent with Duchenne muscular dystrophy (DMD), the diagnosis of Becker muscular dystrophy (BMD) was proposed based on family history (brother with BMD) and confirmed by muscle immunohistochemistry, and molecular study shown an in-frame DMD gene mutation. The patient also fulfilled the clinical criteria of NS and he harbors a hotspot mutation on PTPN11 gene. This genetic combination may be an explanation for the variability of clinical expression in the family.
Neuromuscular Disorders 10/2009; 20(1):61-3. · 2.80 Impact Factor
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ABSTRACT: Group A streptococcal pharyngitis of is a common infectious disease with a well-recognized clinical pattern, as opposed to that attributed to group C assault. The aim of this study was to identify the clinical features of group C streptococcal pharyngitis in children. In total, 144 children participated in the study, consisting of three distinct categories. Group I patients consisted of children with group A streptococcal pharyngitis, group II patients included children with group C streptococcal pharyngitis,, while children with pharyngitis with no isolated causative agent constituted group III patients. With the exception of sore throat, which was three times more common in group I patients compared to group II patients, there were no other differences in symptoms and signs between these two groups. Similarly, no difference was found between group II patients and group III patients with respect to clinical features. Two or more Centor criteria were found in 77% of the children with group C streptococcal pharyngitis and in 89% of the children with group A streptococcal pharyngitis. It is concluded that the clinical features of group C streptococcal pharyngitis are similar to but milder than those of group A streptococcal pharyngitis.
Journal of Infection and Chemotherapy 09/2009; 15(4):228-32. · 1.80 Impact Factor
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ABSTRACT: We here present a 6-month-old girl with cystic hepatic mesenchymal hamartoma and elevated a-fetoprotein (aFP). Following hepatectomy of the left lobe and partial right lobectomy, decline of the serum aFP was observed. The child has been well for 20 years and it is one among a few cases with such a long observational period.
Pediatric Surgery International 05/2009; 25(4):381-4. · 1.25 Impact Factor
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ABSTRACT: We describe 4 jaundiced neonates with acute pyelonephritis of whom family history was positive for or pointed to Gilbert's syndrome (GS). Uridine diphosphate glucuronosyltransferase 1A1 (UGT-1A1), (TA)7 polymorphism, associated with GS was found in these neonates. We suggest that extended (TA)7 promoter, acting as a predisposing factor, contributes substantially to hyperbilirubinaemia seen in a number of neonates with urinary tract infections (UTIs).
Scandinavian Journal of Infectious Diseases 02/2006; 38(6-7):537-40. · 1.72 Impact Factor
