Primary hyperoxaluria: a case series.

BACKGROUND: Primary hyperoxaluria (PH) is a rare genetic disorder characterized by the excessive production and accumulation of oxalate. We present five cases of PH, each exhibiting varying manifestations of the disorder including a case presenting as postpartum kidney failure. Notably, three of these cases involve a previously unreported mutation. CASE PRESENTATIONS: We evaluated five Indian patients who presented with varying manifestations of PH. The first case, a 30 year old woman, presented as post-partum kidney failure and was found to be having oxalate nephropathy precipitated by dietary oxalate overload in the setting of previously undiagnosed PH. Genetic analysis revealed a previously unreported mutation in the alanine-glyoxylate aminotransferase gene. The patient underwent simultaneous kidney liver transplant. The second and third cases, 26 and 28 year old women respectively, were asymptomatic siblings of the first patient, who were diagnosed through screening. The fourth case is a 12 year boy with PH type 1 presenting as nephrolithiasis and rapidly worsening kidney function requiring combined kidney liver kidney transplant. Case 5 is a 6 year old male child with type 2 PH presenting with nephrolithiasis, nephrocalcinosis and normal kidney function. All the patients were born to consanguineous parents. CONCLUSIONS: Due to limited clinical suspicion and inadequate diagnostic resources in certain countries with limited resources, it is possible for PH to go undiagnosed. The manifestations of the disease can range from no noticeable symptoms to severe disease. Interestingly, in some individuals with primary hyperoxaluria, the disease may not exhibit any symptoms until it is triggered by a high intake of dietary oxalate.

Spectrum of EGFR mutation and its relation with high-risk predictors in thyroid cancer in Kashmiri population: 2 years prospective study at a tertiary care hospital.

BACKGROUND: EGFR mutation has not been extensively studied in thyroid cancer. This study was conducted to study spectrum of EGFR mutation in thyroid cancer in Kashmiri population for possible therapeutic purpose. METHODS: It was 2 years prospective cross-sectional study conducted at a tertiary care center in which histologically confirmed, untreated thyroid cancers were included. These specimens were subjected to EGFR mutation analysis by AS-PCR method. RESULTS: There were a total 60 patients with preponderance of females [44(73%) vs 16(27%)]. Most were in the age group of less than 45 years (75%). Most of these patients were non-smokers [50(83.3%) vs 10 (17.3%)]. Papillary thyroid carcinoma (PTC) was the commonest type 48(80%), rest was follicular type (FTC) 12(20%). Well-differentiated carcinoma (WDC) was common than poorly differentiated (PDC) [41(68.4%) vs 19 (31.6%)]. Lymph node metastasis and vascular invasion were present in 32 (53.4%) and 17 (28.4%) respectively. Thirty-two (53.3%) patients were having 15 bp deletion in exon 19 of EGFR. These deletions were common in PTC than FTC, 29(60.5%) vs 3(25%) which was statistically significant (p = 0.04, CI = 0.2). The total mutational rate of T790M in EGFR tyrosine kinase domain (exon 20) was found to be only 8.4% (5 of 60). Only 4 (8.3%) of these mutations were detected in PTC and rest in FTC (1 of 12). Twenty-six (43.3%) of exon 21 were positive for L858R mutation in EGFR tyrosine kinase domain. Married persons and PDC were significant predictors of L858R mutation in EGFR tyrosine kinase domain in thyroid cancer as this was statistically significant in them with p = 0.04, 0.03 respectively. CONCLUSION: In our population, PTC is common in females with half of population harboring EGFR mutation and it is statistically significant in poorly differentiated carcinoma and in married individuals. It implies that EGFR may be used in thyroid cancer as a possible therapeutic agent in our set of population.

Sero Conversion of Viral Hepatitis among End Stage Renal Disease Patients on Hemodialysis in Kashmir: Results of a Prospective Study.

BACKGROUND: The seroconversion is a significant health concern in patients with end-stage renal disease undergoing hemodialysis particularly in high endemic zones of HBV and HCV. PATIENTS AND METHODS: This prospective study was conducted from January 2009 to April 2018 at Sheri Kashmir Institute of Medical Sciences, Srinagar, Kashmir. A cohort of 459 end-stage renal disease patients on hemodialysis was enrolled from four dialysis centres and followed in a longitudinal manner. Their seroconversion rates, risk factors were studied. Positive patients were treated and followed up. RESULTS: This study demonstrated HBV seroconversion rate of 7.4 % (n = 34) and HCV seroconversion rate of 10% (n = 46) in a cohort of 459 patients on hemodialysis attending four dialysis centres of Kashmir. Patients with diabetes mellitus outnumbered in seroconversion rates of (43.75%) followed by patients with glomerulonephritis (23.75%). Of 15 patients who had undergone renal transplantation 10 (66.67%), patients had seroconversion on hemodialysis which was statistically significant (P < 0.001). Patients who were dialysed at multiple HD centres had significant seroconversion than those who followed up at a single center. Seroconversion was associated with longer duration of dialysis (80.30 ± 30.92 vs 61 ± 9.41months, P < 0.000). HBV vaccination of the ESRD patient on hemodialysis was significantly protective against seroconversion (P = 0.000). CONCLUSIONS: Hepatitis B vaccination, stringent precautions in all dialysis centres could help to reduce the high seroconversion rates which have a high financial burden on ESRD patients. Intense health education to both patients and medical staff will be beneficial to lower the seroconversion rates.