Biomedical subjects

Begüm Atasay

Publications and source records attributed to Begüm Atasay.

4 recordsLinked to original sources

PubMed2003

Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.

Tpit is a highly cell-restricted transcription factor that is required for expression of the pro-opiomelanocortin (POMC) gene and for terminal differentiation of the pituitary corticotroph lineage. Its exclusive expression in pituitary POMC-expressing cells has suggested that its mutation may cause isolated deficiency of pituitary adrenocorticotropin (ACTH). We now show that Tpit-deficient mice constitute a model of isolated ACTH deficiency (IAD) that is very similar to human IAD patients carrying TPIT gene mutations. Through genetic analysis of a panel of IAD patients, we show that TPIT gene mutations are associated at high frequency with early onset IAD, but not with juvenile forms of this deficiency. We identified seven different TPIT mutations, including nonsense, missense, point deletion, and a genomic deletion. This work defines congenital early onset IAD as a relatively homogeneous clinical entity caused by recessive transmission of loss-of-function mutations in the TPIT gene.

Adrenocorticotropic Hormone↗

PubMed2003

Organization of neonatal care services and its importance.

Universally 4 million newborns die and another 4 million are stillborn every year. 98% of these neonatal deaths take place in the developing countries. Looking at the state of the world's newborns one can see that neonatal mortality rate is about 4-5 per 1000 in the developed countries and nearly 10 fold this in the developing world. Causes that underlie these newborn deaths differ according to a country's development rank. According to the WHO estimates for the year 2001, newborns die due to infections (32%), birth asphyxia and trauma (29%), prematurity (24%) and congenital anomalies (10%), mostly in the developing countries. When organizing neonatal care services in a country or a region, priorities should be decided by looking at neonatal and perinatal mortality rates and causes of neonatal and perinatal deaths. Causes of neonatal and perinatal deaths in the developing countries have been documented and reflect some common underlying problems in the health systems. Starting points in the organization of neonatal health care services seem to include: improving women's health and social status, family planning practices, antenatal care and safe delivery conditions. Attention should also be paid to neonatal resuscitation, essential newborn care and sick newborn care practices. Communities and health professionals should be advocates of newborn health in order to seek and deliver newborn health care. Existing health systems should be re-organized to host regionalized perinatal care.

Developing Countries↗

PubMed2003

Factor V Leiden and prothrombin gene 20210A variant in neonatal thromboembolism and in healthy neonates and adults: a study in a single center.

This study was conducted to identify the prevalence of FV1691A and PT20210A mutations in neonates with symptomatic thromboembolism and in healthy neonates and adults. A review of 137 healthy neonates, 368 healthy adults, and 9 neonates with clinical thrombosis was done to investigate for hereditary prothrombotic mutations. For the neonates with thromboembolism, data were collected to reveal the underlying diagnosis, site of thrombosis, and associated risk factors. Investigations included screening for factor V 1691A and prothrombin 20210A. Seven of 9 neonates had one or more risk factors at the time of thromboembolism. Seventy percent (5/7) had underlying congenital thrombophilia (4/7 FV Leiden, 1/7 homozygote protein C deficiency). Among the healthy population, 11.9% of the neonates and 9% of the adults had FV1691A mutation, 4.8% of the neonates and 2.7% of the adults had PT 20210A mutation. Incidence of FV1691A mutation in the neonates with symptomatic thromboembolism was very high. The prevalence of both FV1691A and PT20210A mutations were remarkably higher than previously reported.

Adult↗

PubMed2002

Does early erythropoietin therapy decrease transfusions in anemia of prematurity?

OBJECTIVE: To investigate the effect of early erythropoietin treatment on induction of erythropoiesis and the need for transfusion in Very Low Birth Weight (VLBW) infants with acute neonatal problems. METHODS: The study group consisted of 14 VLBW prematures with gestational ages less than 32 weeks who were given subcutaneous erythropoietin (600 U/kg per week) and oral iron (3 mg/kg per day) during the first 7-8 weeks of their life, while 13 other VLBW prematures that were given placebo constituted the control group. Weekly hematocrit, (Hct) reticulocyte (Ret) values and the volume of blood drawn and transfused were recorded in the both groups. RESULTS: The groups were comparable regarding with birth weights and gestational ages. The volume of the blood drawn (76.8 +/- 42.5 and 37.0 +/- 15.2) was higher and the volume of the transfusions (51.84 +/- 49.30 and 68.84 +/- 41.2) was lower in the study group but the differences between the groups were not significant (p>0.05). The hematocrit, the reticulocyte and the ferritin values were similar in both the groups at the end of the therapy. CONCLUSION: Under the neonatal intensive care circumstances of developing countries where blood volumes needed for laboratory analysis are still very high, phlebotomy losses can not be avoided. Thus early erythropoietin and iron therapy at these doses are not effective in decreasing the need for transfusion and induction of endogenous erythropoiesis.

Anemia, Neonatal↗