Sjögren-Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome. Here, we report an Iranian family with congenital SLS bearing a novel two-base-pair deletion within ALDH3A2 genomic sequence. Our finding expands the mutation spectrum of ALDH3A2 that is...

OBJECTIVE There are several problems associated to the management of patients with phenylketonuria (PKU). Social status could be one of the affecting factors on dietary adherence in these patients. The aim of this study was to evaluate family social status and dietary adherence of PKU patients in Iranian population. METHODS In a cross-sectional study, we studied 105 Iranian PKU patients (born...

In this paper, strong convergence theorems of Ishikawa type implicit iteration process with errors for a finite family of asymptotically nonexpansive in the intermediate sense and asymptotically quasi-pseudocontractive type mappings in normed linear spaces are established by using a new analytical method, which essentially improve and extend some recent results obtained by Yang [Convergence the...

family studies suggest that there is a strong genetic component to the etiology of comitant strabismus. seven cases of a family in three consecutive generations found to have isolated comitant exotropia. this pattern of inheritance is highly suggestive of an autosomal-dominant mode with complete penetrance which is an unreported finding in this entity.   iranian journal of ophthalmology 200921(...

With a focus on an under-studied group of immigrants in the UK, this paper examines Iranian families’ language ideologies and practices at home relation to Persian acquisition maintenance fo...

BACKGROUND Polycystic kidney diseases (PKD) are a group of monogenic disorders that are inherited dominantly (autosomal dominant PKD; ADPKD) or recessively, including, autosomal recessive PKD (ARPKD). A number of recessive, syndromic disorders also involve PKD but have a range of pleiotropic phenotypes beyond the kidney, and are enriched in consanguineous families. CASE PRESENTATION We descri...

Gallo and Sveen, in 1991, specified problems of whether family businesses can take advantage factors facilitating internationalization. We compare non-family innovation, export, growth-expectation, consider how outcomes are aligned, with a coupling that may be loose, synergy benefits the business. This raises further issue, is governance business affecting not only each but also their coupling....

Objectives Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Materials and Methods Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. ...