Occupants’ interaction with the building envelope systems may provide a comfortable indoor environment and lead to a better energy performance of the building. Through questionnaire survey, this study investigates occupant’s pattern of use of windows, shading and air conditioning in Greek residences (mostly apartments) during summer. Results suggest that Greek occupants significantly interact w...

A 44-year-old woman who showed recurrent vitreous hemorrhages with vascular tortuosity received CT angiography which revealed an internal carotid artery aneurysm. A case of internal carotid aneurysm was associated with a pattern of retinal arteriolar tortuosity pathognomic for familial retinal arterial tortuosity (fRAT), suggesting possible involvement of the cerebral circulation. We present a ...

Familial essential thrombocythemia features the acquisition of somatic mutations and an evolution similar to the sporadic form of the disease. Here we report two patients-father and daughter-with essential thrombocythemia who displayed a heterogeneous pattern of somatic mutations. The JAK2 V617F mutation was found in the daughter, while the father harbored the MPL W515L mutation. This case repo...

Familial hypercholesterolemia is a single gene disorder with an autosomal dominant pattern of inheritance. Here we report an 18 year old South Indian girl who presented with myocardial infarction. She had xanthomas and an elevated serum low density lipoprotein cholesterol (LDL-C). Her mother and maternal uncle had died at a young age due to myocardial infarction. Her only sibling, 15 year old y...

Cherubism is a rare familial multilocular cystic lesion of the jaws. The condition clinically appears as a bilateral symmetric swelling of the cheeks in children and is the primary reason for referral. It is a rare lesion of the jaws that has a dominant pattern of inheritance. We report two cases of cherubism, that of a boy and his mother suggestive of a strong familial incidence. A variety of ...

This research objective is to describe the social identity of the skeletal human remains based on dental modification. The research material is skeletal human remains from Kedaton Temple and Upas Well which consists of five individuals. These human remains are located in the residential complex of the kingdom of Majapahit (ca. 1300-1500), thus it can be assumed that they are associated with Ind...

Thyroid cancer may have a familial predisposition but a specific germline alteration responsible for the disease has not been discovered yet. We have shown that familial papillary thyroid cancer (FPTC) patients have an imbalance in telomere-telomerase complex with short telomeres and increased telomerase activity. A germline mutation (A339V) in thyroid transcription factor-1 has been described ...

Familial clustering of malignancies provides a unique opportunity to identify molecular causes of cancer. Polycythemia vera (PV) is a myeloproliferative disorder due to an unknown somatic stem cell defect that leads to clonal myeloid hyperproliferation. We studied 6 families with PV. The familial predisposition to PV appears to follow an autosomal dominant inheritance pattern with incomplete pe...