ABSTRACT
Neonatal severe hyperparathyroidism is a rare disorder arising from inherited defects in the calcium sensing receptor (CaSR) that presents early in life with severe hypercalcemia, failure to thrive, and developmental retardation. The authors describe an infant with neonatal severe hyperparathyroidism due to homozygous CaSR gene mutation presenting with recurrent episodes of severe hypercalcemia, growth retardation, and developmental delay. Medical management served as an efective bridge therapy to surgery. Total parathyroidectomy with right hemithyroidectomy was performed at 7 mo of age and resulted in successful cure and normalization of growth and developmental milestones. Timely medical and surgical management can help prevent mortality and morbidity in the form of neurodevelopmental sequelae. Life-long monitoring and treatment is mandatory for the resultant hypoparathyroidism.
ABSTRACT
ABSTRACT Objectives The differentiation between the various etiologies of thyrotoxicosis, including those with hyperthyroidism (especially Graves' disease [GD], the most common cause of hyperthyroidism) and without hyperthyroidism (like thyroiditis), is an important step in planning specific therapy. Technetium-99m (99mTc) pertechnetate thyroid scanning is the gold standard in differentiating GD from thyroiditis. However, this technique has limited availability, is contraindicated in pregnancy and lactation, and is not helpful in cases with history of recent exposure to excess iodine. The aim of this study was to identify the diagnostic value of the peak systolic velocity of the inferior thyroid artery (PSV-ITA) assessed by color-flow Doppler ultrasound (CFDU) and compare the sensitivity and specificity of this method versus 99mTc pertechnetate thyroid uptake. Subjects and methods We prospectively analyzed 65 patients (46 with GD and 19 with thyroiditis). All patients were evaluated with clinical history and physical examination and underwent 99mTc pertechnetate scanning and measurement of TRAb levels and PSV-ITA values by CFDU. The diagnosis was based on findings from signs and symptoms, physical examination, and 99mTc pertechnetate uptake. Results Patients with GD had significantly higher mean PSV-ITA values than those with thyroiditis. At a mean PSV-ITA cutoff value of 30 cm/sec, PSV-ITA discriminated GD from thyroiditis with a sensitivity of 91% and specificity of 89%. Conclusion Measurement of PSV-ITA by CFDU is a good diagnostic approach to discriminate between GD and thyroiditis, with sensitivity and specificity values comparable to those of 99mTc pertechnetate thyroid uptake.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Thyroid Gland/diagnostic imaging , Thyroiditis/diagnostic imaging , Graves Disease/diagnostic imaging , Thyroid Gland/blood supply , Blood Flow Velocity , Sensitivity and Specificity , Sodium Pertechnetate Tc 99m , Diagnosis, DifferentialABSTRACT
Introduction: The natural history of diabetic nephropathyhas generally been viewed as a descending path fromnormoalbuminuria to end stage renal disease through anintermediate stage marked by microalbuminuria and overtproteinuria. For this reason, measurement of urine albuminis often used as a sensitive marker and predictor of overtnephropathy in patients with diabetes mellitus. Study aimedto determine the prevalence of microalbuminuria in newlydiagnosed type 2 diabetes mellitus patients and to assess theprobable risk factors associated with microalbuminuria.Material and methods: A total of 155 newly diagnosed Type 2Diabetes mellitus patients were includedin our cross-sectionalstudy. After the history, general physical examination andanthropometry, various biochemical investigations includingkidney function test, plasma blood sugars, lipid profile andHbA1c. The detection of microalbuminuria was done byMicral Test (dipstick, Roche Diagnostic) method in a randomspot urine sample. Microalbuminuria was diagnosed if theurinary albumin excretion was ≥20 mg/L of urine.Results: The overall prevalence of nephropathy was 32.9%(51/155).There was significant association of albuminuriawith the increase in age of the patients, increased BMI, highglycated haemoglobin, high fasting plasma glucose, anddyslipidemia.Conclusion: A relatively high prevalence of microalbuminuriaat the time of diagnosis in our study reconfirms that evaluationfor microalbuminuria must be done at the time of diagnosis inall patients of T2DM