SCREENING OF PROP-1, LHX2 AND POU1F1 MUTATIONS IN PATIENTS WITH ECTOPIC POSTERIOR PITUITARY GLAND.

OBJECTIVE: Ectopic posterior pituitary gland (EPP) is usually characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain. The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP. METHODS: In the Endocrinology Outpatient Clinic of "Dr. Behcet Uz" Children's Hospital, 27 patients with EPP were submitted to sequencing analyses of the PROP-1, LHX2, and POU1F1 genes. RESULTS: Growth hormone, thyrotropin, corticotropin, gonadotropin, and vasopressin deficiency were observed in 22 (81.5%), 23 (85.2%), 17 (63%), 14 (51.9%), and two (7.4%) patients. Thirteen patients (48.1%) presented with hyperprolactinemia. Fourteen patients (51%) had a history of birth dystocia, and 12 cases (42.1%) had a history of breech presentation. Central nervous system abnormalities included five cases with corpus callosum agenesis, one case with schizencephaly, and one case with Chiari type 1 malformation. We identified a homozygous p.S109* mutation in exon 2 in one male patient with EPP and two different PROP1 gene polymorphisms (A142T or c.109+3 G>A polymorphism) in thirteen patients. CONCLUSIONS: Our results suggest that PROP1 gene abnormalities might explain the genetic mechanisms involved in the development of EPP.

The long-term outcomes of persistent childhood allergic asthma: A cross-sectional study from western Anatolia

Background: Prospective cohort studies have provided useful knowledge about the natural history of asthma. However, most of the studies are conducted in western countries but the course of the disease and long-term outcomes may differ between countries due to environmental and cultural factors. Objective: The aim of this study is to describe the long-term outcomes of childhood asthma, with data from a follow-up study of at least 10 years, in western Anatolia, Turkey. Methods: Fifty-two patients diagnosed with persistent allergic asthma participated in the study. The patient's demographics, findings on admission, age at onset of disease, time of diagnosis, history of other allergic conditions, history of parental asthma and allergic disorders, presence of pharmacotherapy and immunotherapy were obtained from patients’ records. The factors influencing remission at the end of 10 years follow-up were evaluated. Results: A total of 20 patients (38.5%) were on remission at the end of 10 years. The type of allergen, multi-allergen sensitivity, eosinophilia and elevated serum immunoglobulin E on admission, accompanying allergic disorders and atopy in parents, and allergen immunotherapy did not affect the remission rate (p > 0.05). Conclusion: Childhood persistent asthma is not a homogeneous clinical entity but high clinical remission rates are obtained in western Anatolia. There is no significant predictor of clinical remission in long term follow-up. Prospective studies should be performed in larger asthmatic populations to obtain further data about the natural course of childhood asthma (AU)

The long-term outcomes of persistent childhood allergic asthma: a cross-sectional study from western Anatolia: childhood persistent asthma in western Anatolia.

BACKGROUND: Prospective cohort studies have provided useful knowledge about the natural history of asthma. However, most of the studies are conducted in western countries but the course of the disease and long-term outcomes may differ between countries due to environmental and cultural factors. OBJECTIVE: The aim of this study is to describe the long-term outcomes of childhood asthma, with data from a follow-up study of at least 10 years, in western Anatolia, Turkey. METHODS: Fifty-two patients diagnosed with persistent allergic asthma participated in the study. The patient's demographics, findings on admission, age at onset of disease, time of diagnosis, history of other allergic conditions, history of parental asthma and allergic disorders, presence of pharmacotherapy and immunotherapy were obtained from patients' records. The factors influencing remission at the end of 10 years follow-up were evaluated. RESULTS: A total of 20 patients (38.5%) were on remission at the end of 10 years. The type of allergen, multi-allergen sensitivity, eosinophilia and elevated serum immunoglobulin E on admission, accompanying allergic disorders and atopy in parents, and allergen immunotherapy did not affect the remission rate (p>0.05). CONCLUSION: Childhood persistent asthma is not a homogeneous clinical entity but high clinical remission rates are obtained in western Anatolia. There is no significant predictor of clinical remission in long term follow-up. Prospective studies should be performed in larger asthmatic populations to obtain further data about the natural course of childhood asthma.