PMID- 37260067
OWN - NLM
STAT- MEDLINE
DCOM- 20230814
LR  - 20230913
IS  - 0974-7559 (Electronic)
IS  - 0019-6061 (Linking)
VI  - 60
IP  - 8
DP  - 2023 Aug 15
TI  - MTHFR C677T Polymorphism, Plasma Homocysteine, and PDGF-AA Levels and 
      Transcranial Doppler Velocity in Children With Sickle Cell Disease.
PG  - 651-654
LID - S097475591600550 [pii]
AB  - OBJECTIVE: To evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) 
      C677T polymorphism on plasma homocysteine (tHcy) and platelet-derived growth 
      factor (PDGF-AA) levels in children with sickle cell disease (SCD), and ascertain 
      their role in predicting high transcranial doppler velocity (TCD). METHODS: We 
      estimated MTHFRC677T gene poly-morphism, plasma tHyc and PDGF-AA in 44 SCD 
      patients and 44 healthy children. RESULTS: The prevalence of mutant homozygous 
      MTHFR (C677TT) in SCD was 13.6%. Significantly higher plasma tHcy was observed in 
      mutant homozygous MTHFRC677TT patients. Significantly higher plasma tHcy and 
      PDGF-AA levels were observed in SCD patients than in controls. Median (IQR) 
      PDGF-AA levels were significantly higher in conditional and high-risk TCD 
      patients as compared to low-riskTCD patients [325 (93.1-368) and 368 (111-480) vs 
      111 (56-201) pg/mL, respectively; P<0.001]. Mean (SD) tHcy levels were 
      significantly higher in high-risk TCD children than low-risk TCD children (12.9 
      (2.7) vs 9.9 (2.5) micromol/L; P=0.006). The receiver operating characteristic 
      revealed that the area under the curve (AUC) of PDGF-AA for high TCD velocity was 
      0.934 (95% CI 0.845-1.00; P<0.001) and tHcy had an AUC of 0.675 (95% CI 
      0.517-0.833; P=0.04). CONCLUSION: PDGF-AA and tHcy levels could be used as 
      predictive markers for stroke in SCD children. MTHFR Polymorphism contributes to 
      elevated tHcy levels.
FAU - Mahmoud, Asmaa A
AU  - Mahmoud AA
AD  - Department of Pediatrics, Faculty of Medicine, Menoufia University, Shebin Elkom, 
      Egypt. Correspondence to: Asmaa Abdel Sameea Mahmoud, Assistant professor of 
      Pediatrics, Faculty of Medicine, Menoufia University Hospital, Yassin 
      Abdel-Ghafar Street, Shebin El-Kom, Menoufia, Egypt, 32511. 
      asmaasoliman50@gmail.com.
FAU - Abd El Hady, Nahla M S
AU  - Abd El Hady NMS
AD  - Department of Pediatrics, Faculty of Medicine, Menoufia University, Shebin Elkom, 
      Egypt.
FAU - Rizk, Mohammed S
AU  - Rizk MS
AD  - Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, 
      Menoufia University, Egypt.
FAU - El-Hawwary, Ahmed M
AU  - El-Hawwary AM
AD  - Department of Pediatrics, Faculty of Medicine, Menoufia University, Shebin Elkom, 
      Egypt.
FAU - Saleh, Nagwan Y
AU  - Saleh NY
AD  - Department of Pediatrics, Faculty of Medicine, Menoufia University, Shebin Elkom, 
      Egypt.
LA  - eng
PT  - Journal Article
DEP - 20230530
PL  - India
TA  - Indian Pediatr
JT  - Indian pediatrics
JID - 2985062R
RN  - EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2))
RN  - 0 (platelet-derived growth factor A)
RN  - 0 (Platelet-Derived Growth Factor)
RN  - 0LVT1QZ0BA (Homocysteine)
RN  - 935E97BOY8 (Folic Acid)
RN  - EC 1.5.1.20 (MTHFR protein, human)
SB  - IM
CIN - Indian Pediatr. 2023 Aug 15;60(8):622-623. PMID: 37565437
MH  - Humans
MH  - Child
MH  - *Methylenetetrahydrofolate Reductase (NADPH2)/genetics
MH  - Genotype
MH  - Platelet-Derived Growth Factor/genetics
MH  - *Anemia, Sickle Cell/genetics
MH  - Homocysteine
MH  - Folic Acid
EDAT- 2023/06/01 13:09
MHDA- 2023/08/14 06:42
CRDT- 2023/06/01 07:23
PHST- 2023/08/14 06:42 [medline]
PHST- 2023/06/01 13:09 [pubmed]
PHST- 2023/06/01 07:23 [entrez]
AID - S097475591600550 [pii]
PST - ppublish
SO  - Indian Pediatr. 2023 Aug 15;60(8):651-654. Epub 2023 May 30.