Radioactive Iodine-131 as a Definitive Treatment in Rare Association of Down Syndrome With Hyperthyroidism: A Case Report and Review of Literature.

Down syndrome characterized by trisomy of chromosome 21 is frequently associated with thyroid dysfunctions due to underlying autoimmune disorders. Hypothyroidism is the commonest thyroid dysfunction and hyperthyroidism, usually Graves' disease, is far less common. On literature review, we came across approximately 112 cases reported so far with the first such case report in 1946. The published data from India on hyperthyroidism in Down syndrome is of three case reports. We report one such patient, an adult male of 28 years who was administered Iodine-131 as a definitive treatment after 9-10 years of initial diagnosis.

Skeletal Metastases Presenting as Superscan on Technetium 99m Methylene Diphosphonate Whole Body Bone Scintigraphy in Different Type of Cancers: A 5-Year Retro-prospective Study.

The purpose of the study is to find out the overall incidence of superscan among different type of cancers, causes of superscan and its relationship with other parameters such as age, sex, duration of disease, and serum alkaline phosphatase (ALP) levels. This was a retro-prospective study. Records of all previous bone scans and reported patients of superscan were re-evaluated retrospectively. Patients who were diagnosed as having superscan in the preceding 3 years with confirmed histopathological diagnosis were included in the retrospective group. In the prospective group, all the patients who were reported to have superscan appearance over the past 2 years of prospective period were included. Total of 6027 bone scans were examined in a 5-year period and out of which 80 cases were diagnosed as superscan. The overall incidence of superscan in different type of cancers was 1.3% (80/6027). Prostate cancer (46/80) was the most common cause of superscan appearance followed by breast cancer (10/80). Out of 6027 patients referred for bone scan, 307 patients had prostate cancer on histopathological examination. Out of 307 patients with prostate cancer, 46 had superscan appearance. Incidence of superscan in prostate cancer was 14.98% (46/307), and 71.73% (33/46) prostate cancer patients with superscan had Gleason score of 8 and above 8 with mean serum prostate-specific antigen level was 178.42 ng/ml in symptomatic patients and 122 ng/ml in asymptomatic patients. Out of all patients with superscan, 71 patients (88.7%) had elevated serum ALP levels. Overall incidence of superscan in our study was 1.3% in different type of cancer patients, and the most common cause of superscan appearance was prostate cancer. Incidence of superscan appearance in prostatic cancer patients was 14.98%.

Radionuclide Esophageal Transit Scintigraphy in Primary Hypothyroidism.

Background/Aims: Esophageal dysmotility is associated with gastrointestinal dysmotility in various systemic and neuroregulatory disorders. Hypothyroidism has been reported to be associated with impaired motor function in esophagus due to accumulation of glycosaminoglycan hyaluronic acid in its soft tissues, leading to changes in various contraction and relaxation parameters of esophagus, particularly in the lower esophageal sphincter. In this study we evaluated esophageal transit times in patients of primary hypothyroidism using the technique of radionuclide esophageal transit scintigraphy. Methods: Thirty-one patients of primary hypothyroidism and 15 euthyroid healthy controls were evaluated for esophageal transit time using 15-20 MBq of Technetium-99m sulfur colloid diluted in 10-15 mL of drinking water. Time activity curve was generated for each study and esophageal transit time was calculated as time taken for clearance of 90% radioactive bolus from the region of interest encompassing the esophagus. Esophageal transit time of more than 10 seconds was considered as prolonged. Results: Patients of primary hypothyroidism had a significantly increased mean esophageal transit time of 19.35 ± 20.02 seconds in comparison to the mean time of 8.25 ± 1.71 seconds in healthy controls (P < 0.05). Esophageal transit time improved and in some patients even normalized after treatment with thyroxine. A positive correlation (r = 0.39, P < 0.05) albeit weak existed between the serum thyroid stimulating hormone and the observed esophageal transit time. Conclusions: A significant number of patients with primary hypothyroidism may have subclinical esophageal dysmotility with prolonged esophageal transit time which can be reversible by thyroxine treatment. Prolonged esophageal transit time in primary hypothyroidism may correlate with serum thyroid stimulating hormone levels.

Significant association of TP53 Arg72Pro polymorphism in susceptibility to differentiated thyroid cancer.

BACKGROUND: Among various polymorphic variants of TP53 gene, codon 72 polymorphism (Arg72Pro) has been found to be associated with cancer susceptibility, but only few studies have investigated their effect on thyroid cancer risk. OBJECTIVE: A case control study was conducted to elucidate the possible role of this SNP as risk factor in thyroid cancer development and to examine its correlation with various clinicopathological variables. METHODS: In this study, we tested the genotype distribution by PCR-RFLP in 140 thyroid cancer patients and 200 cancer-free controls from Kashmir Valley. RESULTS: Genotype frequencies of Arg/Arg (GG), Arg/Pro (GC), and Pro/Pro (CC) genotypes among cases were 0.286, 0.343 and 0.371 while in controls 0.45, 0.37 and 0.18 respectively. Proline allele frequency was significantly higher than arginine frequency in patient group (OR = 2.06, 95% C.I = 1.5-2.8). Significant association was found between variant genotype of codon 72 of TP53 gene and young age group, female gender, urban dwellers, non-smokers and patients with elevated TSH levels (P < 0.05). CONCLUSION: It is evident from our study that Arg72Pro SNP of TP53 gene is connected with higher susceptibility to thyroid cancer especially in young age group, female gender, non-smokers and patients with elevated TSH levels, hence, implicated in thyroid carcinogenesis.

Comparison of phenobarbitone and ursodeoxycholic acid in drug-augmented hepatobiliary scintigraphy for excluding the diagnosis of obstructive cholestasis in neonatal cholestasis syndrome.

OBJECTIVES: Neonatal cholestasis is a common cause of jaundice among newborns. Hepatobiliary scintigraphy plays an important role in the diagnosis of neonatal cholestasis by ruling out extrahepatic biliary atresia, which is one of the common causes. Phenobarbitone and ursodeoxycholic acid (UDCA) have been used to improve the specificity of hepatobiliary scintigraphy in ruling out obstructive causes of neonatal cholestasis syndrome (NCS). The present study was undertaken to compare the utility of phenobarbitone and UDCA in augmenting hepatobiliary scintigraphy in the evaluation of NCS. MATERIALS AND METHODS: Seventy-four consecutive patients with NCS referred for hepatobiliary scintigraphy were initially subjected to a baseline scan. Twenty patients showed tracer activity in the intestine within 24 h after injection, thus ruling out obstructive cholestasis. Fifty-four patients who did not show any tracer activity in the intestine were categorized as nonexcretors. Four nonexcretors were lost to follow-up and were excluded from the study. Fifty nonexcretors showing scan features suggestive of obstructive cholestasis were further randomized into those receiving phenobarbitone (n=20), UDCA (n=20), or placebo (n=10). These groups were further evaluated with drug-augmented hepatobiliary scintigraphy, after premedication, for any excretory activity in the intestine. RESULTS AND CONCLUSION: Out of 50 patients who were evaluated with drug-augmented hepatobiliary scintigraphy two patients from the phenobarbitone group and one patient each from UDCA and placebo groups showed a change in excretory pattern from the baseline scan. However, these results were statistically nonsignificant (P=1.00). In the present study, drug-augmented (phenobarbitone or UDCA) hepatobiliary scintigraphy did not seem to improve the results (negative predictive value) for ruling out an obstructive cause of neonatal cholestasis.

Possible Impact of RET Polymorphism and Its Haplotypic Association Modulates the Susceptibility to Thyroid Cancer.

Rearranged during Transfection (RET) gene polymorphisms act to influence thyroid cancer in a polygenic and low-penetrance manner and no study regarding RET alterations in thyroid cancer has undergone from this part of the world (North India). We evaluated RET G691S (rs1799939), L769L (rs1800861), and S904S (rs1800863) polymorphisms to elucidate their possible role as risk factors in papillary thyroid cancer (PTC) and follicular thyroid cancer (FTC). Polymorphic analysis of RET gene was performed by polymerase chain reaction (PCR), followed by restriction fragment length polymorphism (RFLP). In RET G691S polymorphism, the overall distribution of variant alleles (GA + AA) in cases was 62.9% as against 44.5% in controls (P < 0.05) whereas frequency of RET L769L variant alleles (TG + GG) in cases was 70% versus 88% in controls (P < 0.05). In RET S904S, frequency of variant alleles (CG + GG) in cases was 56% versus 44% in controls (P < 0.05). Interestingly, G691S/L769L variant showed increased risk for the non-smokers (P < 0.05). RET S904S variant showed association with benign thyroid disease as against those with no history. The over-representation of homozygotes in G691S and L769L polymorphic variants was not observed, which suggest a "Dominant mode of inheritance." The S904S polymorphism heterozygote lies almost in the middle of the two homozygotes confirming an "Additive mode of inheritance." In conclusion, RET gene G691S/S904S polymorphisms were over-represented and L769L polymorphism was under-represented in PTC and FTC patients. RET polymorphic variants could act synergistically in the development or progression of PTC and FTC.

Thyroid dyshormonogenesis and associated non-thyroidal anomalies in a tertiary care hospital in India.

BACKGROUND: Dyshormonogenetic goiter refers to familial goiters owing to an inherited defect in the metabolism of thyroid hormones. METHODS: 19 patients with clinical and biochemically proven hypothyroidism (low T3, FT4 and high TSH) were recruited for the study. All patients were subjected to (i) ultrasound of the neck to rule out thyroid dysgenesis and (ii) technetium-99m radionuclide thyroid scintigraphy and a perchlorate discharge test (PDT). Extrathyroidal malformations were identified by clinical ultrasound (USG) examination of the abdomen and pelvis and by echocardiography. RESULTS: Out of 19 patients with elevated thyroid uptakes on technetium-99m thyroid scintigraphy, 12 (63%) had a positive PDT and 7 patients (37%) had a negative PDT. All patients were subjected to abdominopelvic USG and echocardiography. Out of 12 patients with a positive PDT, 5 (42%) had associated extrathyroid malformations, 2 had urogenital malformations, and cardiac abnormalities on echocardiography were present in 2 patients (17%). One patient (8%) had features of dysmorphism in the form of a high-arched palate, low-set ears and microcephaly. CONCLUSION: Congenital hypothyroidism due to dyshormogenesis is associated with a high prevalence of extrathyroidal malformations and needs to be managed as early as possible to ensure normal neurocognitive development of the children affected.

Bone scintigraphy in Ollier's disease: A rare case report.

Ollier's disease is characterized by multiple skeletal enchondroma. There are published data regarding Ollier's disease being associated with vascular malformations and non-skeletal neoplasms. We report a case of Ollier's disease in a young male associated with osteochondroma, low grade glioma in the insular cortex of brain and Gilbert's syndrome. Technetium-99m methylene diphosphonate whole body bone scan is a sensitive investigation to ascertain the complete extent of skeletal involvement particularly the asymptomatic sites.

Simultaneous occurrence of Graves' disease in eutopic and ectopic thyroid tissues: A case report and review of literature.

Ectopic thyroid tissue an uncommon condition results from abnormal migration of the primitive thyroid bud. This may be the only functional thyroid. Ectopic thyroid tissue may sometimes coexist with the eutopic thyroid gland. Hyperthyroidism in association with ectopic thyroid tissue is very uncommon. We report a rare case of simultaneous involvement of ectopic and eutopic thyroid tissue in a married women of 35 years who was referred to our department for a technetium 99m thyroid scan. Coexisting ectopic and eutopic thyroid tissue due to identical histology may have similar response to various stimulatory and inhibitory factors like hormones and immunoglobulin's. Iodine-131 is an easy to administer and effective treatment for patients with simultaneous Graves' disease in the ectopic and eutopic thyroid tissues.

Radioactive waste management in a hospital.

Most of the tertiary care hospitals use radioisotopes for diagnostic and therapeutic applications. Safe disposal of the radioactive waste is a vital component of the overall management of the hospital waste. An important objective in radioactive waste management is to ensure that the radiation exposure to an individual (Public, Radiation worker, Patient) and the environment does not exceed the prescribed safe limits. Disposal of Radioactive waste in public domain is undertaken in accordance with the Atomic Energy (Safe disposal of radioactive waste) rules of 1987 promulgated by the Indian Central Government Atomic Energy Act 1962. Any prospective plan of a hospital that intends using radioisotopes for diagnostic and therapeutic procedures needs to have sufficient infrastructural and manpower resources to keep its ambient radiation levels within specified safe limits. Regular monitoring of hospital area and radiation workers is mandatory to assess the quality of radiation safety. Records should be maintained to identify the quality and quantity of radioactive waste generated and the mode of its disposal. Radiation Safety officer plays a key role in the waste disposal operations.