Current Status of Newborn Screening in Southeastern Europe.

Significant part of Southeastern Europe (with a population of 76 million) has newborn screening (NBS) programs non-harmonized with developed European countries. Initial survey was conducted in 2013/2014 among 11 countries from the region (Albania, Bulgaria, Bosnia and Herzegovina (BIH), Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, and Slovenia) to assess the main characteristics of their NBS programs and their future plans. Their cumulative population at that time was ~52,5 million.

Novel Founder Mutation in Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region.

Background: Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the (60-65%), FANCC (10-15%), (~10%) or (3-6%) genes. We have already reported the variant c.

Prevalence of gestational diabetes mellitus according to IADPSG and NICE criteria.

Objective: To investigate the impact of the International Association of Diabetic Pregnancy Study Group (IADPSG) diagnostic criteria on the prevalence of gestational diabetes mellitus (GDM) and overt diabetes as compared with the UK National Institute for Health and Care Excellence (NICE) criteria, and to evaluate the prevalence of maternal and perinatal outcomes among pregnant women with fasting plasma glucose (FPG) levels of 5.1-5.5 mmol/L.

Hashimoto Thyroiditis and Nephrocalcinosis in a Child with Down Syndrome.

Introduction: Hypothyroidism has been reported to affect renal function and structure. However, the association of hypothyroidism with distal renal tubular acidosis (dRTA) is rarely reported in children.

Case Presentation: We present a 6-year-boy with Down syndrome admitted in our department due to vomiting, weakness, polyuria, polydipsia, irritability and weight loss in the last few weeks.

Newborn screening in southeastern Europe.

The aim of our study was to assess the current state of newborn screening (NBS) in the region of southeastern Europe, as an example of a developing region, focusing also on future plans. Responses were obtained from 11 countries. Phenylketonuria screening was not introduced in four of 11 countries, while congenital hypothyroidism screening was not introduced in three of them; extended NBS programs were non-existent.

Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome.

Unlabelled: Wolcott-Rallison syndrome (WRS), caused by mutation in the EIF2AK3 gene encoding the PERK enzyme, is the most common cause of permanent neonatal diabetes mellitus (PNDM) in consanguineous families and isolated populations. Besides PNDM, it also includes skeletal abnormalities, liver and renal dysfunction, and other inconsistently present features. We present two siblings, who are WRS patients, and are Albanians from Kosovo born to unrelated parents.