• DiGeorge syndrome: a case report of a child with attention deficit and socialization problems

      Lowe, Chamodika (Acquaint Publications, 2021-07-13)
      DiGeorge Syndrome which is also known as chromosome 22q11.2 deletion syndrome is a primary immunodeficiency caused by the deletion of chromosome 22. Its main features include dysmorphia, hypoparathyroidism, hypocalcemia, hypoplasia or aplasia of the thymus, cardiac anomalies, renal anomalies, and behavioral/ psychiatric issues. This incurable syndrome could be treated for its complications to increase the quality of life. With the advancement of technology, DiGeorge syndrome can now be identified in childhood itself where FISH is the main diagnostic method used. A case report of a 5-year-old boy who visited the psychiatric hospital with attention deficit and socialization problems is presented here. The boy also had a medical history of mild recurrent numbness in his hands and showed mild facial dysmorphism on physical examination. On the evaluation of his case, Partial DiGeorge Syndrome was confirmed.
    • Risk factors associated with chronic kidney disease of unknown origin (Ckdu) in North Central Province (NCP) of Sri Lanka: An analysis of evidence to date

      Aslam, Fahim (Acquaint Publications, 2020-02-21)
      Chronic kidney disease of unknown origin (CKDu) is a global burden among the agricultural communities, this is a non-communicable disease (NCD) which is asymptomatic and irreversible until latter stages of the disease. The disease has no common features unlike chronic kidney diseases (CKD’s) making early detection impossible in the patients. The most recent form of CKDu was reported in India, known as the Indian CKDu in late 2010’s. In Sri Lanka, CKDu is highly prevalent in the north central province of the country with nearly15.1%-22.9% presented with the disease. This region is a dry-zone in which agricultural and farming activities are carried out as the main occupation. Several studies have been carried out linking CKDu to various factors such as heavy metals in water, agrochemicals, heat, dehydration and socio-demographics in NCP. Despite several researches being conducted none of them were able to prove the root cause and causative factors of the disease. Using the available articles online, studies from countries such as India, Nicaragua, Sri Lanka and South America were chosen in which heat stress, dehydration, heavy metal involvement, agrochemicals were common causative factors reported in these geographical locations. Several studies analyzed indicate that the affected CKDu population were part of the agricultural community in rural areas with less or no proper high school education and family history with CKDu. Recent findings do suggest that a combination study involving socio-demographical data and geographical data will help to end the CKDu debate worldwide and provide new insights into early diagnosis.