Autoimmune hemolytic anemia (AIHA) is rarely seen in Hodgkin lymphoma (HL) patients, with a reported incidence of 0.2–4.2%.1-3 Sporadic case reports and reviews have shown that when AIHA occurs in HL patients, it happens mostly at stages III and IV of nodular sclerosis HL (NSHL) or mixed cellularity HL (MCHL).4 We present a case of AIHA at the time of diagnosis of classic HL, stage IIIB, with a...

Mutations in the TBC1D24 gene are responsible for four neurological presentations: infantile epileptic encephalopathy, infantile myoclonic epilepsy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures) and NSHL (non-syndromic hearing loss). For the latter, two recessive (DFNB86) and one dominant (DFNA65) mutations have so far been identified in consanguineous Pakis...

BACKGROUND We describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype comprising multiple fractures, cranial abnormalities and diaphyseal expansion, and significant developmental delay with microcephaly. We performed Chromosomal Microarray Analysi...

The aim of the present study was to investigate the genetic etiology of patients with nonsyndromic hearing impairment through gene analysis, and provide accurate genetic counseling and prenatal diagnosis for deaf patients and families with deaf children. Previous molecular etiological studies have demonstrated that the most common molecular changes in Chinese patients with nonsyndromic hearing ...

BACKGROUND Permanent congenital hearing loss affects up to 6/1000 births in developing countries. Currently, in Uganda there is no newborn screening for hearing loss (NSHL) program and no published work on this topic. Within the existing healthcare system there are two opportunities to deliver screening, at birth or 6 weeks of age when infants receive their immunizations. AIM This study explo...

The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far. The most common form of NSHL is the autosomal recessive form (ARNSHL). In this study, a cohort of 36 big ARNSHL pedigrees with 4 or more patients from 7 provinces of Iran was investig...

Çalışmamızda kliniğimizde Ocak 2008-Aralık 2018 tarihleri arasında, Hodgkin lenfoma (HL) tanısı alan hastaların; demografik, histopatolojik, prognostik özelliklerini belirlemeyi ve bu belirteçlerin sağkalım üzerindeki ilişkisini ortaya koymayı amaçladık. Eskişehir Osmangazi Üniversitesi Tıp Fakültesi Hematoloji Bilim Dalı’nda 2008-2018 yılları Dünya Sağlık Örgütü (WHO) 2008 sınıflamasına göre a...

conclusions more studies are needed to investigate the relationship between other parts of this gene with hearing loss in different populations through the country. more research could clarify the role of this gene and its relation with deafness and provide essential information for the prevention and management of auditory disorders caused by genetic factors in the iranian population. backgrou...

BACKGROUND Nonsyndromic hearing loss (NSHL) is highly heterogeneous, in which more than 90 causative genes have currently been identified. DFNA5 is one of the deafness genes that known to cause autosomal dominant NSHL. Until date, only five DFNA5 mutations have been described in eight families worldwide. In this study, we reported the identification of a novel pathogenic mutation causing DFNA5 ...

Objectives Targeted next-generation sequencing (NGS) provides a consequential opportunity to elucidate genetic factors in known diseases, particularly in profoundly heterogeneous disorders such as non-syndromic hearing loss (NSHL). Hearing impairments could be classified into syndromic and non-syndromic types. This study intended to assess the significance of mutations in these genes to the aut...