Objective: This study aims to investigate the presence of acquired and hereditary coagulation in adolescent girls presenting with increased menstrual bleeding. Method: The consisted 63 female patients (15.4±1.5 years) who applied pediatric clinic our hospital due bleeding, did not have any acute or chronic disease, use medication last 14 days, were same age gender as group. 74 healthy adolescen...

Mutations in the kinesin family member 1A (KIF1A) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutations causing a more complex neurological disorder affecting both the central and peripheral nervous system. We identified by exome sequencing a de novo dominant ...

Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distinctive set of developmental and skeletal defects that may easily be misdiagnosed as exogenous obesity in children. There are very few publications detailing the comprehensive management of children and adolescents with this disorder. This chapter provides a comprehensive discussion of the various aspects of t...

" Addiction " is a multifaceted complicated disorder with many interrelated causes, as well as environmental and genetic features. Several hereditary variables that have an effect on these features might work in together to influence vulnerability and the extent of being an addict. Molecular re-sequencing of the latest and formerly researched genes holds a crucial place with regards to the brea...

INTRODUCTION Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is an autosomal dominant bleeding disorder characterized by arteriovenous malformations and multiple telangiectasia affecting the skin, abdominal viscera, and mucosa. It affects approximately one in 5,000 to 8,000 people and presents with severe recurrent epistaxis, gastrointestinal bleeding, and ...

Hemophilia is the most well-known hereditary bleeding disorder, with an incidence of one in every 5000 to 30,000 males worldwide. The disease is treated by infusion of protein products on demand and as prophylaxis. Although these therapies have been very successful, some challenging and unresolved tasks remain, such as reducing bleeding rates, presence of target joints and/or established joint ...

Menorrhagia is a common gynecological symptom. In adolescents, the cause is generally dysfunctional uterine bleeding. Menorrhagia may also be due to undiagnosed coagulation defects, endocrine disorders, gynecological abnormalities of the uterus, or other systemic disorders. Menorrhagia may be the only clinical manifestation of an inherited bleeding disorder. We report a case of inherited hypopr...

Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. It is reported worldwide and is the most common inherited anaemia in individuals of northern European ancestry. Clinical severity is variable with most patients having a well-compensated haemolytic anaemia. Some individuals are asymptomatic, whereas others have severe haemolytic...

CASE DESCRIPTION Five-year-old female patient with hereditary hemorrhagic telangiectasia. CLINICAL FINDINGS Deterioration of cardiopulmonary function with higher oxygen requirements secondary to pulmonary arteriovenous shunts, epistaxis. TREATMENT AND OUTCOME The patient was treated with the monoclonal antibody bevacizumab, which inhibits the vascular endothelial growth factor, with good cl...