Novel mutation in the SLC19A2 gene in Thiamine-responsive megaloblastic anemia
(Rogers’ syndrome)
Nosrat
Ghaemi
a Department of Pediatric Endocrinology, Mashhad University of Medical Sciences, Mashhad, Iran.
author
Martha
Ghahraman
b Human Genetics Division, Immunology Research Center, Avicenna Research Institute,
Mashhad University of Medical Sciences, Mashhad, Iran
author
Mohammad Reza
Abbaszadegan
b Human Genetics Division, Immunology Research Center, Avicenna Research Institute,
Mashhad University of Medical Sciences, Mashhad, Iran
author
Rahim
Vakili
a Department of Pediatric Endocrinology, Mashhad University of Medical Sciences, Mashhad, Iran.
author
text
article
2012
eng
Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive megaloblastic anemia (TRMA) or Rogers' syndrome. Case one and two were siblings of healthy first-cousin parents and case three from a healthy second-cousin couple. These cases presented with hyperglycemia, anemia, and hearing loss. Thiamine reversed the anemia and there was a satisfactory response for the hyperglycemia as well. Results: In all three patients, direct sequencing revealed a homozygous mutation c.38 G>A (P.E.128K) resulting in the substitution of glutamic acid to lysine at position 128 in exon 2 of the SLC19A2 gene on chromosome 1q23.3. This novel mutation was confirmed by the PCR RFLP assay of more than 100 control alleles. Conclusion: TRMA or Rogers' syndrome should be considered for patients with diabetes (DM) and other symptoms, including hearing loss and anemia. Early diagnosis can assist families in planning future pregnancies. The administration of thiamine ameliorates the megaloblastic anemic condition and produces a better response in DM.
Iranian Journal of Neonatology
Mashhad University of Medical Sciences
2251-7510
3
v.
1
no.
2012
30
35
https://ijn.mums.ac.ir/article_274_f9b580d71079bf84938b48ba83636696.pdf
dx.doi.org/10.22038/ijn.2012.274
Plasma Leptin Concentrations in Preterm Infants with Retinopathy of Prematurity (ROP)
Manizheh
Mostafa Gharehbaghi
Associate professor of pediatrics and neonatology. Tabriz University of Medical Sciences
author
Ali
Peirovifar
2- Associate professor of Anesthesiology. Tabriz University of Medical Sciences
author
Karim
Sadeghi
3 -Associate professor of ophthalmology. Tabriz University of Medical Sciences
author
text
article
2012
eng
Intruduction: This study was conducted to determine blood levels of leptin in premature infants with proliferative ROP.Retinopathy of prematurity (ROP) is a postnatal disorder of retinal vessels that develops in the incompletely vascularized retina of preterm infants. This disorder regresses in most patients but can lead to severe visual impairment. There is evidence that leptin stimulates angiogenesis.
Methods:
Blood samples were obtained 6-8 weeks after birth from 71 preterm infants born at or before 32 weeks of gestation. These infants consisted of two groups according their eye examination results. The control group consisted of 41 neonates without evidence of ROP and the case group included 30 patients with proliferative ROP at stage III or more. Plasma leptin concentrations were measured using enzyme-linked immunosorbent assay (ELISA).
Results:
The mean gestation age of studied patients at birth were 28.4±1.6 wk and 28.8±1.6 in case and control group respectively (P= .25). The mean post menstrual age of studied patients at blood sampling was 34.9±1.2 wk in the case group and 34.6±1.3 wk in the control group (p=0.33). Mean blood levels of leptin were not significantly different among patients of the two groups (0.64±0.41 ng/ml in case group and 0.79±0.83 ng/ml in control group respectively,p=0.39).
Conclusion:
Our data demonstrated that plasma leptin concentrations were not significantly different in premature infants with proliferative ROP at 6-8 weeks after birth from premature infants without ROP at this age.
Iranian Journal of Neonatology
Mashhad University of Medical Sciences
2251-7510
3
v.
1
no.
2012
12
16
https://ijn.mums.ac.ir/article_275_2f50102ff1eda652514a20f60616ef7b.pdf
dx.doi.org/10.22038/ijn.2012.275
An 8-Year experience of esophageal atresia repair in sarvar children hospital
Mehran
Hiradfar
Associate professor of pediatric surgery- Mashhad University of Medical Sciences
author
Ahmad
Bazrafshan
Associate professor of pediatric surgery- Mashhad University of Medical Sciences
author
Marjan
Judi
Assistant professor of pediatric surgery - Mashhad University of Medical Sciences
author
Mohammad
Gharavi
Associate professor of anesthesiology- Mashhad University of Medical Sciences
author
Reza
Shojaeian
Resident of pediatric surgery - Mashhad University of Medical Sciences
author
text
article
2012
eng
Intruduction:
Esophageal atresia (EA) is a congenital anomaly treated by surgical reconstruction. Some early postoperative complications may be encountered we assessed complications following EA repair in a large number of neonates with EA / TEF.
methods:
243 patients with EA / TEF that were treated operatively in Sarvar Children’s Hospital from 2002 to 2010 were studied. Early post-operative complications in the ICU and surgery ward until hospital discharge were assessed.
Results:
Mean age was 3.4±2.76 days. Primary repair was performed in 83.5% Mean hospital stay was 12.5±12.81 days. Respiratory problems and food intolerance were the most common early complications. In-hospital mortality rate decreased significantly during the last 8 years (from 17.6% to 4.7%).
Conclusion:
Acceptable results and a growing survival rate were observed in this series of patients and we anticipate better results with improvements in minimally invasive surgical methods.
Iranian Journal of Neonatology
Mashhad University of Medical Sciences
2251-7510
3
v.
1
no.
2012
20
24
https://ijn.mums.ac.ir/article_276_04b1ff25240a46adda39c40000e1a2f7.pdf
dx.doi.org/10.22038/ijn.2012.276
Selenium Level of Umbilical Cord Blood: Is it related to Respiratory Distress Syndrome?
Ashraf
Mohammadzadeh
Neonatologist, professor, Neonatal Research Center, School of Medicine, Mashhad University of Medical Sciences
author
Ahmad
Shah Farhat
Neonatologist, assistant professor, Neonatal Research Center, School of Medicine, Mashhad University of Medical Sciences
author
Mahdi
Balali
Toxicologist, professor, Medical Toxicology Research Center, School of Medicine, Mashhad University of Medical Sciences
author
Gholamreza
Faal
Neonatologist, Birjand University of Medical Sciences
author
Ramin
Iranpour
Neonatologist, associate professor, Isfahan University of Medical Sciences
author
Habibullah
Esmaieli
Biostatistics PhD, associate professor, Neonatal Research Center, Mashhad University of Medical Sciences, community medicine and
public health department.
author
text
article
2012
eng
Introduction:
The aim of study was to compare umbilical cord blood selenium levels in respiratory distress syndrome (RDS) and non RDS preterm babies.
Methods:
Umbilical cord blood selenium levels of all preterm newborn born during a 6-month period were enrolled in the study. They were divided into two groups: RDS and non RDS. Selenium level was assessed by using electro-thermal atomic absorption spectrometry and serum concentration of selenium was compared between the two groups.
Results:
During the study 150 preterm babies were studied. Mean umbilical cord blood selenium levels were 98.5 µg/L. Among 150 preterm babies 27 (18%) had RDS and 82% no RDS. Mean umbilical cord blood selenium level in RDS and non RDS groups were 96.5 and, 96.6 µg/L respectively (P=0.64). There were no significant differences between the two groups with regard to umbilical cord blood selenium levels.
Conclusion:
In this study there was no significant relationship between selenium umbilical cord blood level and respiratory distress syndrome in preterm neonates.
Iranian Journal of Neonatology
Mashhad University of Medical Sciences
2251-7510
3
v.
1
no.
2012
24
30
https://ijn.mums.ac.ir/article_277_fa7e6aeaec1c9f8ce608fd88096445c9.pdf
dx.doi.org/10.22038/ijn.2012.277
Acute bilirubin encephalopathy in healthy term neonates requiring exchange transfusion
Seyedeh Fatemeh
Khatami
Department of Pediatrics, Division of neonatology, Neonatal Research Center, Ghaem Hospital, Faculty of Medicine, Mashhad
University of Medical Sciences, Mashhad, Iran
author
Pouya
Parvaresh
- Department of Internal Medicine, Faculty of Medical Sciences Szeged, Medical University of Szeged, Hungary
author
text
article
2012
eng
Intruduction: There is a growing concern about an increasing bilirubin-induced neurological dysfunction (BIND) in healthy term neonates with no evidence of hemolytic disease or other risk factors. This study was done to determine the incidence of BIND in otherwise healthy, breast-fed newborn term infants without hemolysis who underwent exchange transfusion. Methods: This study was conducted in jaundiced newborn infants Results: During the 2- year period, 140 term newborn infants underwent ET; 7 of these patients were excluded; 133 patients were followed and 69 patients were selected without BIND, and 64 were assigned to the group with BIND. This study showed that 48% of jaundiced newborn infants who underwent exchange transfusion, manifested bilirubin induced neurological dysfunction. Unsuccessful breast feeding was found to be a statistically significant risk factor for BIND(p:0.001), sex, route of delivery, family history of jaundice, mean maternal age, number of gravity, parity, abortion, and babies mean admission age ,mean age at jaundice presentation, amount of weight loss, mean total serum bilirubin level were not found to significantly influence BIND. Conclusion: Of the healthy term neonates who developed jaundice within the first week of life, 48% without hemolysis who underwent exchange transfusion demonstrated BIND. It is still not clear whether acute bilirubin encephalopathy affects neurodevelopmental outcome or not. Unsuccessful breast feeding was found to be a statistically significant risk factor.
Iranian Journal of Neonatology
Mashhad University of Medical Sciences
2251-7510
3
v.
1
no.
2012
8
12
https://ijn.mums.ac.ir/article_278_4ab81b25ec453efb5ae13221e944072c.pdf
dx.doi.org/10.22038/ijn.2012.278
Ultrasonographic Triangular Cord Sign and Gallbladder Abnormality in Diagnosis of Biliary Atresia
Seyed Ali
Jafari
Assistant professor of pediatric gastroenterology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
author
Mehrzad
Mehdizadeh
Assistant professor of radiology, Children’s Hospital Medical Center, Tehran University Of Medical Sciences.
author
Fatemeh
Farahmand
-Associate professor of pediatric gastroenterology, Children’s Hospital Medical Center, Tehran University of Medical Sciences.
author
Gholam Hossein
Fallahi
Professor of pediatric gastroenterology, Children’s Hospital Medical Center, Tehran University of Medical Sciences
author
Hamid Reza
Kianifar
Associate professor of pediatric gastroenterology, Ghaem Hospital, Mashhad University of Medical Sciences.
author
text
article
2012
eng
Introduction: Early diagnosis of biliary atresia is very important for better outcome of treatment. Ultrasonography is one of the diagnostic tools for early differentiation of biliary atresia from other causes of neonatal cholestasis. It has been reported that triangular cord sign (TACS) in sonography is a reliable sign for diagnosis of biliary atresia. The aim of this study was to re-assess the accuracy of TACS alone and coupled with an abnormal gallbladder in the diagnosis of biliary atresia. Methods: Infants with prolonged cholestatic jaundice underwent ultrasonography and liver biopsy. Results of ultrasound scans (TASC and gallbladder abnormality) were compared with histopathological findings. Sensitivity, specificity, positive predictive value, negative predictive value and accuracy of Ultrasonographic findings for diagnosis of biliary atresia based on liver histopathology were studied. Results: The sensitivity, specificity and accuracy of TACS for diagnosis of biliary atresia were 36%, 95% and 77% respectively. Positive predictive value and negative predictive value was 77%. The sensitivity and specificity of gallbladder abnormality for diagnosis of biliary atresia were 36% and 88% respectively. Positive predictive value of TACS coupled with gallbladder abnormality for diagnosis of biliary atresia was 100%. Conclusion: The Ultrasonographic TACS is very specific for diagnosis of biliary atresia. Positive predictive value and accuracy of this sign is much higher than of gallbladder abnormality. The sensitivity of TACS for diagnosis of biliary atresia is very low.
Iranian Journal of Neonatology
Mashhad University of Medical Sciences
2251-7510
3
v.
1
no.
2012
16
20
https://ijn.mums.ac.ir/article_279_2fec83fc48b63be8474fa8f8f0257e34.pdf
dx.doi.org/10.22038/ijn.2012.279
Survival of a Neonate after Nine Days without Feeding
Ahmad
Shah Farhat
Assistant professor of neonatology, Neonatal Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
author
Ashraf
Mohammadzadeh
Professor of neonatology, Neonatal Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
author
Gholamreza
Faal
Assistant professor of neonatology, Neonatal Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
author
text
article
2012
eng
A male neonate from a 23 year-old mother by cesarean section without complication in labor or delivery had vomiting from birth for 9 days and lost 400 grams of body weight. He had severe dehydration upon admission to our hospital. After treating his dehydration and assessment of his problem by laboratory tests and radiography we found that he had esophageal atresia without hypoglycemia. We repaired his atresia and he is normal now 10 months post-treatment.
Iranian Journal of Neonatology
Mashhad University of Medical Sciences
2251-7510
3
v.
1
no.
2012
40
44
https://ijn.mums.ac.ir/article_280_f039d463cad0c7f5aff4b1f83387414d.pdf
dx.doi.org/10.22038/ijn.2012.280
Thanatophoric Dysplasia in Newborn Twins:Case Report and Literature Review
Shahin
Mafinezhad
Department of pediatrics, Fellow of Neonatology, Mashhad University of Medical Sciences, Mashhad, Iran
author
Yasaman
Bozorgnia
Department of dentistry, Resident of Orthodontics, Mashhad University of Medical Sciences, Mashhad, Iran
author
Reza
Gharaee
Department of pediatrics, Fellow of Neonatology, Mashhad University of Medical Sciences, Mashhad, Iran
author
text
article
2012
eng
Thanatophoricdysplasia (TD) isanosteochondrodysplasiaalwayslethalintheneonatalperiod. Thevastmajorityofcasesareduetodenovomutations. Itisdividedintotwotypes: ashortcurvedfemurcharacterizestype 1, whileastraighterfemurwithcloverleafskullcharacterizestype 2. Inthanatophoricdysplasiathelimbsareveryshort. Theribcageissmall. Thevertebralbodiesofthespinearegreatlyreducedinheightwithwidespacesbetweenthem. Autosomaldominantmutationsinthefibroblastgrowthfactorreceptor 3 gene (FGFR3), whichhasbeenmappedtochromosomeband 4p16.3, resultsinbothsubtypes. Thisconditionhascharacteristicsonographicfeaturesthatsuggestthediagnosisprenatally. Thanatophoricfetusesusuallydiewithinthefirst 48 hoursoflifefrompulmonaryhypoplasiacausedbyanarrowthorax, leadingtorespiratoryinsufficiency. Wereportedtwindizygotecasesoftype 1 TDwithsimilarfindingsadjustingwithTDforthefirsttime, alongwithashortreviewoftheavailableliterature.
Iranian Journal of Neonatology
Mashhad University of Medical Sciences
2251-7510
3
v.
1
no.
2012
36
40
https://ijn.mums.ac.ir/article_281_5fb90726e55c2658869488d5a6dd8b42.pdf
dx.doi.org/10.22038/ijn.2012.281