Zespół Brucka — rzadki zespół charakteryzujący się kruchością kości, przykurczami stawowymi i nowoodkrytą homozygotyczną mutacją FKBP10

Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. According to the genotype, it has been classified into types 1 and 2. Recently, mutations in FKBP10, localised to chromosome 17q21, have been identified in some patients of Bruck syndrome. Twenty-seven patients of this syndrome have been reported so far. We present a new patient of this syndrome, with frequent fractures, congenital joint contractures, kyphoscoliosis, bilateral clubfoot, and pectus carinatum. The clinical and genetic features of all previously reported cases are also reviewed. (Endokrynol Pol 2015; 66 (2): 170–174)Zespół Brucka jest autosomalną chorobą recesywną, na którą składa się kruchość kości i wrodzone przykurcze stawowe. Zgodnie z genotypem zespół ten można podzielić na typ 1 i 2. Ostatnio, u niektórych pacjentów z zespołem Brucka wykryto mutacje FKBP10, genu zlokalizowanego na chromosomie 17q21. Do tej pory zarejestrowano 27 pacjentów z tym zespołem. Autorzy przedstawiają nowego pacjenta ze zdiagnozowanym zespołem Brucka, z częstymi złamaniami, wrodzonymi przykurczami stawowymi, kifoskoliozą kręgosłupa, obustronną stopą końsko-szpotawą i klatką piersiową kurzą. Przytoczymy również kliniczne i genetyczne cechy wszystkich wcześniej potwierdzonych przypadków. (Endokrynol Pol 2015; 66 (2): 170–174

A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene

Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid, occurs due to the BCKDC gene deficiency, appearing in the blood, urine, and cerebrospinal fluid, which leads to neurological damage and mental retardation. MSUD phenotypically penetrates due to the mutations in the coding genes of four subunits of the BCKD complex, including the BCKDHA, BCKDHB, DBT, and DLD genes.Case report: We aimed to report the cases of three families whose children were affected by MSUD and presented with symptomatic features during the first week of birth, which were identified by mass spectrometry. DNA study was performed as a diagnosis panel containing four encoded BCKDC subunit genes.Conclusion: In the current study, DNA analysis and phenotypic manifestations indicated a novel mutation of c.143delT, p.L48Rfs*15 in the BCKDHA gene in a homozygous state, which is a causative mutation for the classic MSUD phenotype. Early diagnosis and neonatal screening are recommended for the accurate and effective treatment of this diseas

Quality of life among Iranian patients with beta-thalassemia major using the SF-36 questionnaire

CONTEXT AND OBJECTIVE Patients with beta-thalassemia major (β-TM) experience physical, psychological and social problems that lead to decreased quality of life (QoL). The aim here was to measure health-related QoL and its determinants among patients with β-TM, using the Short Form-36 (SF-36) questionnaire. DESIGN AND SETTING Cross-sectional study at the Hematology Research Center of Shiraz University of Medical Sciences, in southern Iran. METHODS One hundred and one patients with β-TM were randomly selected. After the participants' demographics and disease characteristics had been recorded, they were asked to fill out the SF-36 questionnaire. The correlations of clinical and demographic factors with the QoL score were evaluated. RESULTS There were 44 men and 57 women of mean age 19.52 ± 4.3 years (range 12-38). On two scales, pain (P = 0.041) and emotional role (P = 0.009), the women showed significantly lower scores than the men. Lower income, poor compliance with iron-chelating therapy and presence of comorbidities were significantly correlated with lower SF-36 scores. These factors were also found to be determinants of worse SF-36 scores in multivariate analysis. CONCLUSIONS We showed that the presence of disease complications, poor compliance with iron-chelating therapy and poor economic status were predictors of worse QoL among patients with β-TM. Prevention and proper management of disease-related complications, increased knowledge among patients regarding the importance of managing comorbidities and greater compliance with iron-chelating therapy, along with psychosocial and financial support, could help these patients to cope better with this chronic disease state