No abstract

IntroductionGraves’ orbitopathy is the extra thyroidal manifestation of Graves’ disease and the most common cause of exophthalmos. It is also known as thyroid-associated orbitopathy (TAO) as it occasionally occurs in euthyroid or hypothyroid patients with chronic thyroiditis. 5% of patients with Graves’ orbitopathy can be euthyroid or hypothyroid as they have low titers of anti-thyrotropin-receptor antibodies, which are difficult to detect in some assays. Orbitopathy has also been seen in a small percentage of patients with Hashimotos thyroiditis. The eye involvement in Graves’ is frequently bilateral and symmetric. These patients pose few diagnostic difficulties when the ocular findings occur concomitantly with the thyroid disease. However, when unilateral and asymmetric ocular findings occur with normal or mildly abnormal thyroid function tests, alternate etiologies should also be pursued. We aim to discuss some conditions like sarcoidosis, lymphoma, orbital pseudotumor, and orbital malignancy that mimic TAO.CasesThree patients were referred to us with concern for Graves’ orbitopathy. After further work-up, we diagnosed the first patient with specific orbital myositis from sarcoidosis. Our second patient had CD10-positive B-cell lymphoma. Our third patient had orbitopathy likely secondary to Hashimotos or orbital pseudotumor.ConclusionOur cases and discussion describe some other conditions that clinically mimic TAO and the importance of pursuing further work-up for accurate diagnosis when presentation of orbitopathy is atypical.

Introduction:Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD.Methods:A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study.Results:Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD.Conclusions:Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD.

No abstract