Long-term followup of newborns with myelodysplasia and normal urodynamic findings: Is followup necessary?

PURPOSE: A subset of newborns with myelodysplasia have normal bladder function on urodynamic assessment. We analyzed long-term followup in this population to determine the necessity for subsequent urological surveillance. MATERIALS AND METHODS: We retrospectively analyzed the records of 25 of 204 newborns (12%) with myelodysplasia in whom neurourological evaluation was normal after surgical repair of the spinal defect. Initial assessment included complete urodynamic study, renal ultrasound, urinalysis and urine culture. These patients were reevaluated every 3 months until age 3 years, semiannually until age 6 years and yearly thereafter. The longest followup was 18.6 years. RESULTS: Of the 25 newborns 22 had myelomeningocele and 3 had meningocele. During a mean followup of 9.1 years urodynamics subsequently showed neurourological deterioration in 8 children (32%). No changes in urodynamics were observed in any patient older than 6 years. All children with neurourological deterioration underwent magnetic resonance imaging, which confirmed a tethered spinal cord that was then surgically corrected. After the untethering procedure 2 patients (25%) regained normal voiding function, whereas in 6 (75%) mild or moderate neurogenic bladder dysfunction persisted. CONCLUSIONS: Newborns with myelodysplasia and initially normal urodynamic studies are at risk for neurological deterioration secondary to spinal cord tethering, especially during the first 6 years of life. Close followup of these children is important for the early diagnosis and timely surgical correction of tethered spinal cord, and for the prevention of progressive urinary tract deterioration.     

Magnesium infusion dramatically decreases the incidence of atrial fibrillation after coronary artery bypass grafting

BACKGROUND: Atrial fibrillation (AF) is one of the most common complications of cardiac surgery. Magnesium, like several other pharmacologic agents, has been used in the prophylaxis of postoperative AF with varying degrees of success. However, the dose and the timing of magnesium prophylaxis need to be clarified. The purpose of this study was to assess the effect of intermittent magnesium infusion on postoperative AF. METHODS: A total of 200 consecutive patients who had elective, isolated, first-time coronary artery bypass grafting were prospectively randomized to two groups. Patients in the magnesium group (n = 100) received 6 mmol MgSO4 infusion in 100 mL 0.9% NaCl solution (25 mL/h) the day before surgery, just after cardiopulmonary bypass, and once daily for 4 days after surgery. Patients in the control group (n = 100) received only 100 mL 0.9% NaCl solution (25 mL/h) at the same time points. RESULTS: Postoperative AF occurred in 2 (2%) patients in the magnesium group and in 21 (21%) patients in the control group (p < 0.001). Atrial fibrillation started, on average, 49.4 +/- 16.8 hours postoperatively. The postoperative length of hospital stay was not significantly different in patients with AF (7.4 +/- 8.0 days) compared with patients without AF (5.4 +/- 1.1 days; p = 0.236). CONCLUSIONS: The use of magnesium in the preoperative and early postoperative periods is highly effective in reducing the incidence of AF after coronary artery bypass grafting.     

Metabolome Profiling by HRMAS NMR Spectroscopy of Pheochromocytomas and Paragangliomas Detects SDH Deficiency: Clinical and Pathophysiological Implications

Succinate dehydrogenase gene (SDHx) mutations increase susceptibility to develop pheochromocytomas/paragangliomas (PHEOs/PGLs). In the present study, we evaluate the performance and clinical applications of ¹H high-resolution magic angle spinning (HRMAS) nuclear magnetic resonance (NMR) spectroscopy–based global metabolomic profiling in a large series of PHEOs/PGLs of different genetic backgrounds. Eighty-seven PHEOs/PGLs (48 sporadic/23 SDHx/7 von Hippel-Lindau/5 REarranged during Transfection/3 neurofibromatosis type 1/1 hypoxia-inducible factor 2α), one SDHD variant of unknown significance, and two Carney triad (CTr)–related tumors were analyzed by HRMAS-NMR spectroscopy. Compared to sporadic, SDHx-related PHEOs/PGLs exhibit a specific metabolic signature characterized by increased levels of succinate (P < .0001), methionine (P = .002), glutamine (P = .002), and myoinositol (P < .0007) and decreased levels of glutamate (P < .0007), regardless of their location and catecholamine levels. Uniquely, ATP/ascorbate/glutathione was found to be associated with the secretory phenotype of PHEOs/PGLs, regardless of their genotype (P < .0007). The use of succinate as a single screening test retained excellent accuracy in distinguishing SDHx versus non–SDHx-related tumors (sensitivity/specificity: 100/100%). Moreover, the quantification of succinate could be considered a diagnostic alternative for assessing SDHx-related mutations of unknown pathogenicity. We were also able, for the first time, to uncover an SDH-like pattern in the two CTr-related PGLs. The present study demonstrates that HRMAS-NMR provides important information for SDHx-related PHEO/PGL characterization. Besides the high succinate–low glutamate hallmark, SDHx tumors also exhibit high values of methionine, a finding consistent with the hypermethylation pattern of these tumors. We also found important levels of glutamine, suggesting that glutamine metabolism might be involved in the pathogenesis of SDHx-related PHEOs/PGLs.Abbreviations: GSH, glutathione; HRMAS, ¹H high-resolution magic angle spinning; NMR, nuclear magnetic resonance; PGL, paraganglioma; PHEO, pheochromocytoma; SDH, succinate dehydrogenase     

The role of ureteroscopy as a diagnostic and therapeutic tool in various indications

Ureteroscopy is now in routine use for the diagnosis and treatment of various pathologies in the upper urinary tract. We report here on our experience in diagnostic and therapeutic applications of the 11.5 F rigid ureteroscope in 85 patients and 88 ureters. An overall success rate of 68.18% (60/88) was achieved when therapeutic and diagnostic interventions were evaluated together. Success rate was 66.65% in the treatment of ureteral stones (all locations), 100% in the removal of retained catheters, and 81.82% in diagnostic interventions. Frequencies of complications like postoperative fever, stone migration, and various degrees of ureteral perforation were 5.68%, 5.68%, and 7.95%, respectively, consistent with current literature. We conclude that rigid ureteroscopy can be safely applied for appropriate indications in the hands of competent urologists.     

Changing patient and stone features for shock wave lithotripsy (SWL) in Turkey

Shock wave lithotripsy (SWL) has made a revolution in the treatment of urolithiasis. Recent reports suggesting that stone features for SWL have changed during the last years have forced us to compare our initial and last 250 patients treated at our ESWL unit in terms of stone and patient characteristics. We found that the number of ureteric stones and small calyceal stones have increased significantly with time whereas the number of larger stones undergoing SWL has decreased significantly. We believe that this change in stone features is caused by the changing trends in the treatment of stone disease by incorporating other therapeutic options and modifying the SWL indications according to patient characteristics. We also believe that prophylactic lithotripsy for asymptomatic calyceal stones still remains to be a debatable issue.     

Heterozygous methylenetetrahydrofolate reductase 677C-T gene mutation with mild hyperhomocysteinemia associated with intrauterine iliofemoral artery thrombosis.

Neonatal thrombosis is a serious event that can cause mortality or severe morbidity. Newborn-related factors, including genetic prothrombotic risk factors, may affect the occurrence of neonatal thrombosis. In this report, a case of intrauterine iliofemoral arterial thrombosis associated with mild hyperhomocysteinemia caused by methylenetetrahydrofolate reductase 677C-T gene mutation is presented. We suggest that methylenetetrahydrofolate reductase gene mutation might be investigated in neonates and their families presenting with thromboembolic disease.