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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 FANCA (60-65%), FANCC (10- 15%), FANCG (~10%) or FANCD2 (3-6%) genes. We have already reported the FANCA variant c.190- 256_283+1680del2040dupC as a founder mutation among Macedonian fanconi anemia patients of Gypsylike ethnic origin. Here, we present a novel FANCA mutation in two patients from Macedonia and Kosovo. Case Report: The novel FANCA mutation c.3446_3449dupCCCT was identified in two fanconi anemia patients with Romany ethnicity; a 2-year-old girl from Macedonia who is a compound heterozygote for a previously reported FANCA c.190- 256_283+1680del2040dupC and the novel mutation and a 10-year-old girl from Kosovo who is a homozygote for the novel FANCA c.3446_3449dupCCCT mutation. The novel mutation is located in exon 35 in the FAAP20- binding domain which plays a crucial role in the FANCAFAAP20 interaction and is required for integrity of the fanconi anemia pathway. Conclusion: The finding of the FANCA c.3446_3449dupCCCT mutation in two unrelated FA patients with Romani ethnicity from Macedonia and Kosovo suggests it is a founder mutation in the Romani population living in the Balkan region. [ABSTRACT FROM AUTHOR]

Background: Peripheral biofeedback is considered to be an efficient method for assessment and stress mitigation in children. The aim of the present study was to assess the levels of stress and stress mitigation in healthy school children (HSC), in children with cystic fibrosis (CF), general anxiety (GA) and attention-deficit–hyperactivity disorder (ADHD). Methods: Each investigated group (HSC, CF, GA, ADHD) consisted of 30 school-aged children from both sexes. Psychological characteristics were evaluated on Eysenck Personality Questionnaire (EPQ). The lie scale was used to determine participant honesty. Four biofeedback games using a pulls detector were applied for assessment of the stress levels as well as to evaluate ability to relax. Results: EPQ found more psychopathological traits ( P < 0.001) and less extroversion ( P < 0.001) in children with GA and ADHD. In addition, high neurotic tendencies were found in children with CF ( P < 0.01) and GA ( P < 0.01). Unexpectedly, the lie scale was lower in ADHD children ( P < 0.01) than in all other groups (HSC, CF, GA). The Magic blocks score was significantly different in relaxation levels between control and CF children ( P < 0.05). Speed in the game Canal was significantly different in relaxation levels between healthy controls and all other groups, but no changes in pulls, as a relaxation measure, were found during the game. The CF group had much more commissions stemming from impulsivity ( t= 5.71, P < 0.01), while the GA and ADHD children had more inattention omissions ( P < 0.05). Strong negative correlation between age and pulls ( r= 0.49, P= 0.003) and strong negative correlation between age and omissions ( r=−0.86, P= 0.029) were found among all groups analyzed. Conclusions: The ability to learn stress mediation is correlated with age. All three groups of children had significantly lower relaxation levels when compared to healthy controls. Relaxation was more difficult for children with GA or ADHD, and easier for children with CF. [ABSTRACT FROM AUTHOR]

Primary distal renal tubular acidosis (dRTA) is an inherited disease characterized by the inability of the distal tubule to lower urine pH <5.50 during systemic acidosis. We report two male siblings who presented with severe hyperchloremic metabolic acidosis, high urinary pH, nephrocalcinosis, growth retardation, sensorineural hearing loss, and hypokalemic paralysis. Laboratory investigations revealed proximal tubular dysfunction (low molecular weight proteinuria, generalized hyperaminoaciduria, hypophosphatemia with hyperphosphaturia, and hypouricemia with hyperuricosuria). There was significant hyperoxaluria and laboratory evidence for mild rhabdomyolysis. Under potassium and alkali therapy, proximal tubular abnormalities, muscular enzymes, and oxaluria normalized. A homozygous mutation in the ATP6V1B1 gene, which is responsible for dRTA with early hearing loss, was detected in both siblings. In conclusion, proximal tubular dysfunction and hyperoxaluria may be found in children with dRTA and are reversible under appropriate therapy. [ABSTRACT FROM AUTHOR]

Answers are presented to a quiz which was concerned with a boy with congenital cyanotic heart anomaly, a failure to thrive and nephrolithiasis.

Autoimmune thyroiditis is rarely described in association with nephrotic syndrome. Herein we report a girl who developed autoimmune thyroiditis insidiously during the course of minimal change nephrotic syndrome. She was steroid-sensitive, but developed severe steroid dependency and did not respond to cyclophosphamide therapy. She went into stable remission with levamisole. Five months after introduction of levamisole a mild goiter was found on systematic examination at school. The diagnosis of autoimmune thyroiditis was established with typical ultrasound appearance of the thyroid gland along with significant titers of antithyroid antibodies. It is very unlikely that levamisole was responsible for thyroiditis because experimental animal administration of high doses of levamisole inhibited lymphocyte infiltration of the thyroid. Since levamisole has had a beneficial effect on the nephrotic syndrome in our patient we decided to continue the treatment. She has been receiving levamisole for 3 years, and no adverse effects have been observed during the treatment period. [ABSTRACT FROM AUTHOR]