Lowe syndrome - Case report with a novel mutation in the oculocerebrorenal gene.

The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for LS and encodes an inositol polyphosphate-5-phosphatase. We report a male child from North India, with LS with missense mutation in exon 14 of the OCRL gene.

A rare association of pathological variant of Alport's syndrome caused by hemizygous 5' splice mutation in intron 10 of COL4A5 gene with metachondromatosis due to heterozygous missense variation in protein tyrosine phosphatase nonreceptor type 11 gene.

Metachondromatosis is a rare disorder of autosomal inheritance with incomplete penetrance, which is characterized by formation of osteochondroma and enchondroma, caused by loss of function of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene. Diagnosis is made based on the distribution and orientation of lesions with history of regression of lesions with time and confirmed by genetic mutation of PTPN11 gene. We report a rare case of a 24-year-old male with Alport's syndrome with metachondromatosis due to missense variation in PTPN11 gene.

Seasonal variation in 24 h blood pressure profile in healthy adults- A prospective observational study.

The clinical and experimental data on seasonal variation in blood pressure is mainly from office and home blood pressure (BP) monitoring studies. There are few studies from temperate climates on seasonal changes with ambulatory blood pressure (ABP) monitoring and none from India. This is a prospective, observational study among healthy adults. ABP was measured in four different seasons in 28 subjects. Mean arterial pressure (MAP), ambulatory systolic blood pressure (SBP), and ambulatory diastolic blood pressure (DBP) were significantly higher in winter compared to summer season. 24-hour MAP was lowest in summer while highest MAP was recorded in winter (97.04 ± 8.30 and 103.89 ± 8.54, respectively). The mean difference was -6.86 mm Hg (95% CI: -10.74 to -2.97, p = 0.001). This difference was mainly due to increase in day time MAP. There was no difference in 24 h systolic and diastolic blood pressure between summer and winter. There was significant difference between summer and winter in the SBP (day time) [125.61 ± 11.44 and 131.93 ± 9.46, mean difference -6.32 (95% CI: -10.69 to -1.95, p = 0.005)] and DBP (day time) [79.57 ± 9.95 and 87.07 ± 9.9, mean difference -7.50 (95% CI: -12.49 to -2.51, p = 0.003)]. The night time systolic and diastolic BP was similar during winter and summer. Thus, BP increases significantly during winter compared to summer season. This change is primarily in the day time systolic, diastolic and mean blood pressures. Larger studies are required to further validate our findings.

Effect of Hemodialysis on Corrected QT Interval and QTc Dispersion.

Hemodialysis patients are at higher risk of cardiovascular disease due to traditional and dialysis-related risk factors. Our aim was to study the effects of hemodialysis on the corrected QT interval (QTc) and QTc dispersion in chronic kidney disease (CKD) without clinically manifest heart disease. Two hundred cases of CKD on chronic intermittent hemodialysis of >3 months' duration were included in the study. Twelve-lead electrocardiography and samples for serum creatinine, potassium, calcium, and magnesium were taken before and after dialysis. The mean age of patients was 52.4 ± 17 years with male-to-female ratio of 3:1. QTc interval and QTc dispersion were prolonged in 47% and 59% before and 50% and 89% of patients after hemodialysis, respectively. The mean values of QTc were 433.4 ± 36.9 ms before and 451.4 ± 39.6 ms after hemodialysis (p = 0.001) and the mean values of QTc dispersion were 60.5 ± 19.3 ms before and 81.5 ± 24.4 ms after hemodialysis (p = 0.001). Similar pattern was observed in all etiological groups of CKD, except for QTc dispersion in malignancy-related CKD (p = 0.216). After hemodialysis, there was a significant fall in the mean values of serum potassium (p = 0.001), rise in serum calcium (p = 0.001), and no change in magnesium (p = 0.424). Patients with post hemodialysis QTc dispersion >74 ms had significantly low mean values of serum potassium and calcium as compared to <74 ms group. Large numbers of hemodialysis patients have a prolonged QTc interval and QTc dispersion with a significant increase in the mean values after hemodialysis. There is a significant fall in serum potassium and rise in serum calcium after dialysis.

Isolated cavitary lung disease in a renal allograft recipient: A rare manifestation of cryptococcus.

Although lungs are the portal of entry for cryptococcus, pulmonary disease is relatively uncommon. Cavitary pulmonary disease is even less common. We report a rare case of cryptococcosis with an isolated cavitary lung lesion in a renal allograft recipient.