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PP-207. Evidence of oxidative stress in Beckwith Wiedemann Syndrome by measuring a redox biomarkers profile
S100
Abstracts
after birth with generalized hypotonia. Familial history was unremarkable. Pregnancy was unmarked but an increased need for assisted delivery after vaginal birth took place. Clinical findings included neonatal hypotonia, altered consciousness (lethargy), dolichocephaly, and bilateral cryptorchidism without any other signs of systemic illness. The newborn had decreased spontaneous movements and arousal, a weak cry, poor suck (need for tube feeding), and poor reflexes. Cranial ultrasound showed a temporal bilateral echogenic lesion. MRI of the head confirmed a diagnosis of extensive thrombosis of cerebral sinuses (CSVT) with a partial occlusion of superior sagittal sinus, torcular, transverse and sigmoid sinuses with no parenchymal brain lesion. A detailed hemostatic screening for hypercoagulable states was normal. Because of persistent and unexplained hypotonia Prader-Willi syndrome (PWS) was suspected. Methylation analysis confirmed PWS. FISH analysis excluded a deletion in 15q11-q13 and maternal uniparental disomy (UPD) for chromosome 15 was confirmed. Treatment consisted of rehydration and systemic anticoagulation with LMWH in a therapeutic anti-X level. The hypotonia gradually improved after the acute phase and the neonate was discharged at 28 days of life. On a follow up examination at 2 months of age, MR venography (MRV) revealed a remarkable reduction of thrombus size.
Conclusions This result gives the way for an antioxidant strategy, supposing that an antioxidant administration could reduce these values and also this source of cancer risk. The choice of an antioxidant strategy must answer to the following characteristics: lack of toxicity, easy administration also in childhood (orally), cheap, few and not relevant side-effects. It should be basic to monitor, before and after its administration, OS entity by using a biomarker profile. Follow-up studies are required to evaluate the reduction in neoplastic risk in children with BWS treated with an antioxidant. Randomized clinical trials enrolling a large record of cases should be useful to verify shortand long-term effects of antioxidant strategies. doi:10.1016/j.earlhumdev.2010.09.262
PP-208. Sirenomelia and twin brother: A case report Bahiyeh Qandalji Ministry of Health, Jordan
Conclusion
Aim
To our knowledge, this is the second report of the association of a neonatal venous thrombosis and a PW syndrome. Consequently, in every PWS infant with unexplained and persistent hypotonia detailed hypercoagulative studies and possibly MRI/MRV for CSVT should be performed. We should consider CSVT as a possible finding in PWS.
Sirenomelia is a very rare congenital deformity in which the legs are fused together and is a lethal condition. We report a case of sirenomelia whose twin brother had isolated duodenal atresia.
doi:10.1016/j.earlhumdev.2010.09.261
O.a primigravida 25 years old mother who had caesarean section due to twin and breech pregnancy. The first baby was a case of sirenomelia with a single lower extremity, absent genitalia, absent anal orifice and single umbilical artery. The second baby was a boy (36 weeks gestation), with birth weight of 2.2 kg. The baby had greenish vomiting and abdominal X-ray revealed typical double bubble appearance. Laporotomy revealed annular pancreas and baby had duodenoduodenostomy. No other abnormalities were detected.
PP-207. Evidence of oxidative stress in Beckwith Wiedemann Syndrome by measuring a redox biomarkers profile Caterina Lo Rizzo, Cecilia Anichini, Antonello Rodriguez, Mariangela Longini, Luca Le Pera, Giuseppe Buonocore Department of Pediatrics, Obstetrics and Reproductive Medicine, Italy Aim Beckwith Wiedemann Syndrome (BWS) is a genomic imprinting disorder characterized by overgrowth and increased risk for neoplasms (1:13,700 births). According to recent literature on the link between oxidative stress (OS) and neoplastic development, we checked the role of OS in this syndrome.
Case presentation
Conclusion Sirenomelia is a rare lethal congenital abnormality. The presence of a congenital abnormality in his twin sibling is even more rare. This raises the question regarding possible common etiology between sirenomelia and isolated duodenal atresia. doi:10.1016/j.earlhumdev.2010.09.263
Materials and methods We describe the clinical features of 4 patients, 3 children and one adult, with clinical and molecular diagnosis, observed in our clinic. At the time of diagnosis we submitted our patients to the determination of a reliable OS biomarker profile in a blood sample in order to compare its values with these of controls. Biomarker profile included advanced oxidation protein products (AOPP), non protein binding iron (NPBI), isoprostanes (IP2), carbonyl groups (CO) and hydroperoxides (dROMS). 40 healthy subjects with the same age of our patients, 20 adults (from 25 to 40 years) and 20 children (from 1 month to 5 years), were used as controls. Results For the first time in literature, we found an increase in OS biomarker levels in all our patients when compared with control levels.
PP-209. Beckwith Wiedemann Syndrome: Administration of potassium ascorbate and ribose in a syndrome with high neoplastic risk and elevated oxidative stress biomarkers Caterina Lo Rizzo, Cecilia Anichini, Fabrizio Proietti, Mariangela Longini, Serafina Perrone, Giuseppe Buonocore Department of Pediatrics, Obstetrics and Reproductive Medicine, Italy Aim Beckwith Wiedemann Syndrome (BWS) is a genomic imprinting disorder characterized by overgrowth and increased risk of neoplasms (1:13,700 births). According to recent literature about the link between oxidative stress (OS) and neoplastic development, we studied the OS assessment of our patients and we administrated,
Abstracts
after birth with generalized hypotonia. Familial history was unremarkable. Pregnancy was unmarked but an increased need for assisted delivery after vaginal birth took place. Clinical findings included neonatal hypotonia, altered consciousness (lethargy), dolichocephaly, and bilateral cryptorchidism without any other signs of systemic illness. The newborn had decreased spontaneous movements and arousal, a weak cry, poor suck (need for tube feeding), and poor reflexes. Cranial ultrasound showed a temporal bilateral echogenic lesion. MRI of the head confirmed a diagnosis of extensive thrombosis of cerebral sinuses (CSVT) with a partial occlusion of superior sagittal sinus, torcular, transverse and sigmoid sinuses with no parenchymal brain lesion. A detailed hemostatic screening for hypercoagulable states was normal. Because of persistent and unexplained hypotonia Prader-Willi syndrome (PWS) was suspected. Methylation analysis confirmed PWS. FISH analysis excluded a deletion in 15q11-q13 and maternal uniparental disomy (UPD) for chromosome 15 was confirmed. Treatment consisted of rehydration and systemic anticoagulation with LMWH in a therapeutic anti-X level. The hypotonia gradually improved after the acute phase and the neonate was discharged at 28 days of life. On a follow up examination at 2 months of age, MR venography (MRV) revealed a remarkable reduction of thrombus size.
Conclusions This result gives the way for an antioxidant strategy, supposing that an antioxidant administration could reduce these values and also this source of cancer risk. The choice of an antioxidant strategy must answer to the following characteristics: lack of toxicity, easy administration also in childhood (orally), cheap, few and not relevant side-effects. It should be basic to monitor, before and after its administration, OS entity by using a biomarker profile. Follow-up studies are required to evaluate the reduction in neoplastic risk in children with BWS treated with an antioxidant. Randomized clinical trials enrolling a large record of cases should be useful to verify shortand long-term effects of antioxidant strategies. doi:10.1016/j.earlhumdev.2010.09.262
PP-208. Sirenomelia and twin brother: A case report Bahiyeh Qandalji Ministry of Health, Jordan
Conclusion
Aim
To our knowledge, this is the second report of the association of a neonatal venous thrombosis and a PW syndrome. Consequently, in every PWS infant with unexplained and persistent hypotonia detailed hypercoagulative studies and possibly MRI/MRV for CSVT should be performed. We should consider CSVT as a possible finding in PWS.
Sirenomelia is a very rare congenital deformity in which the legs are fused together and is a lethal condition. We report a case of sirenomelia whose twin brother had isolated duodenal atresia.
doi:10.1016/j.earlhumdev.2010.09.261
O.a primigravida 25 years old mother who had caesarean section due to twin and breech pregnancy. The first baby was a case of sirenomelia with a single lower extremity, absent genitalia, absent anal orifice and single umbilical artery. The second baby was a boy (36 weeks gestation), with birth weight of 2.2 kg. The baby had greenish vomiting and abdominal X-ray revealed typical double bubble appearance. Laporotomy revealed annular pancreas and baby had duodenoduodenostomy. No other abnormalities were detected.
PP-207. Evidence of oxidative stress in Beckwith Wiedemann Syndrome by measuring a redox biomarkers profile Caterina Lo Rizzo, Cecilia Anichini, Antonello Rodriguez, Mariangela Longini, Luca Le Pera, Giuseppe Buonocore Department of Pediatrics, Obstetrics and Reproductive Medicine, Italy Aim Beckwith Wiedemann Syndrome (BWS) is a genomic imprinting disorder characterized by overgrowth and increased risk for neoplasms (1:13,700 births). According to recent literature on the link between oxidative stress (OS) and neoplastic development, we checked the role of OS in this syndrome.
Case presentation
Conclusion Sirenomelia is a rare lethal congenital abnormality. The presence of a congenital abnormality in his twin sibling is even more rare. This raises the question regarding possible common etiology between sirenomelia and isolated duodenal atresia. doi:10.1016/j.earlhumdev.2010.09.263
Materials and methods We describe the clinical features of 4 patients, 3 children and one adult, with clinical and molecular diagnosis, observed in our clinic. At the time of diagnosis we submitted our patients to the determination of a reliable OS biomarker profile in a blood sample in order to compare its values with these of controls. Biomarker profile included advanced oxidation protein products (AOPP), non protein binding iron (NPBI), isoprostanes (IP2), carbonyl groups (CO) and hydroperoxides (dROMS). 40 healthy subjects with the same age of our patients, 20 adults (from 25 to 40 years) and 20 children (from 1 month to 5 years), were used as controls. Results For the first time in literature, we found an increase in OS biomarker levels in all our patients when compared with control levels.
PP-209. Beckwith Wiedemann Syndrome: Administration of potassium ascorbate and ribose in a syndrome with high neoplastic risk and elevated oxidative stress biomarkers Caterina Lo Rizzo, Cecilia Anichini, Fabrizio Proietti, Mariangela Longini, Serafina Perrone, Giuseppe Buonocore Department of Pediatrics, Obstetrics and Reproductive Medicine, Italy Aim Beckwith Wiedemann Syndrome (BWS) is a genomic imprinting disorder characterized by overgrowth and increased risk of neoplasms (1:13,700 births). According to recent literature about the link between oxidative stress (OS) and neoplastic development, we studied the OS assessment of our patients and we administrated,