First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.

Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR-1). TRMA has been reported in less than 80 cases worldwide.

First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic.

We characterized a case of congenital adrenal insufficiency caused by cholesterol side-chain cleavage enzyme (P450scc) deficiency. The patient presented after birth with cardiopulmonary instability, hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. We confirmed primary adrenal insufficiency.

Extremely hypotrophic newborn of mother with systemic lupus erythematosus and antiphospholipid syndrome.

The case presented describes a high-risk pregnancy of a woman with systemic lupus erythematosus (SLE) with multiple lesions of central nervous system (CNS), vasculitis, secondary epilepsy and antiphospholipid syndrome (APS). At gestational age 28 weeks and 3 days the pregnancy was urgently terminated via caesarean section and an extremely hypotrophic immature newborn with a birth weight of 580 g was born. The high disease activity in the mother at the time of conception and the histologically proven chronic placental insufficiency due to APS are presumably the causes for the extensive hypotrophy of the neonate.

[Developmental impairment of children with very low and extremely low birth weight at 24 months corrected age, born in the Czech Republic in 2000-2009].

Objective: To evaluate the incidence of neonatal morbidity (NM), and developmental impairments (DIs) of very low (VLBW) and extremely low birth weight (ELBW) infants born in 2000-2009.

Design: Epidemiological study.

Setting: Outpatient clinics for children with perinatal risk at the regional neonatal centers.

[Changes in the developmental outcome of very low and extremely low birth weight infants at 24 months' corrected age born in 1997-2007].

Objective: To describe the incidence of developmental impairments (DI) among very low birth weight (VLBW) infants at 24 months' corrected age, born in perinatal centers in 1997-2007, and evaluate their changing prognosis of intact development.

Design: Prospective epidemiological study.

Setting: Follow-up clinics of neonatal centers level III.

[Evaluation of risk factors of retinopathy of prematurity genesis, ocular errors, and psychomotoric development in prematurely born children in West Bohemia--twelve years longitudinal study].

Objective: The retrospective study is focused on monitoring of risk factors necessary for retinopathy of prematurity genesis and monitoring children with retinopathy of prematurity and their ocular and psychomotoric morbidity. The study concerned children treated at the Faculty Hospital in Plzen (Pilsen, Czech Republic, E.U.