" 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...

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...

Hereditary sensory and autonomic neuropathy (HSAN) type 1 is a rare hereditary neurological disorder. Two brothers aged 17 and 14 years had HSAN type 1 as both had big ulcers on feet, mutilation, dissociated anaesthesia, absent ankle jerks and normal hands. Probably these are first cases of HSAN type 1 in Indian literature.

Hereditary dentatorubropallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder. Clinical and genetic findings in hereditary DRPLA are very similar to those of Huntington's disease (HD). However, it can be differentiated from HD by the pathological findings of dentatorubral and pallidoluysian atrophies and by a lack of prominent atrophy of the striatum at necropsy. The...

The biblical giant Goliath has an identifiable family tree suggestive of autosomal dominant inheritance. We suggest that he had a hereditary pituitary disorder possibly due to the AIP gene, causing early onset and familial acromegaly or gigantism. We comment on the evidence within the scriptures for his other relatives including a relative with six digits and speculate on possible causes of the...

Over the past century, the congruency between the modern description of hemophilia and a hereditary coagulation disorder described in the Talmud has been widely noted. Examination of the Talmudic text suggests that: 1. The disease described there closely resembles the modern characterization of classic hemophilia. 2. The hereditary pattern described is consistent with the distinctive inheritanc...

Diffuse cerebral arteriovenous malformation (AVM) is a rare disorder of the brain and defined as diffuse infiltration of brain by complex vascular structures. It is usually associated with hereditary syndromes and presented with hemorrhage or seizure. We report a 20-year-old male patient who presented with drooping of the left eyelid. He had no skin lesion. The ophthalmological examination was ...

Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. We assessed the red blood cell metabolome of 4 patients with this disorder and showed recurrent metabolic abnormalities associated with this disease but not due t...

tuberous sclerosis complex (tsc) is an autosomal-dominant hereditary disorder. this syndrome is characterized by tumor-like malformations in several organs, as well as the heart. this report summarizes a case of tsc in a premature infant, born at 34 weeks' gestation with ascites. after birth, multiple cardiac mass, subependymal cysts and hypopigmented macules were detected. to our knowledge, th...