METHODS: All patients diagnosed with FBPase deficiency from 2010 to 2015 were included in this study. Their clinical and laboratory data were collected retrospectively.
RESULTS: All the patients presented with recurrent episodes of hypoglycemia, metabolic acidosis, hyperlactacidemia and hepatomegaly. All of them had the first metabolic decompensation prior to 2 years old. The common triggering factors were vomiting and infection. Biallelic mutations in FBP1 gene (MIM*611570) were identified in all seven patients confirming the diagnosis of FBPase deficiency. In four patients, genetic study was prompted by detection of glycerol or glycerol-3-phosphate in urine organic acids analysis. One patient also had pseudo-hypertriglyceridemia. Seven different mutations were identified in FBP1, among them four mutations were new: three point deletions (c.392delT, c.603delG and c.704delC) and one splice site mutation (c.568-2A > C). All four new mutations were predicted to be damaging by in silico analysis. One patient presented in the neonatal period and succumbed due to sepsis and multi-organ failure. Among six survivors (current age ranged from 4 to 27 years), four have normal growth and cognitive development. One patient had short stature and another had neurological deficit following status epilepticus due to profound hypoglycemia.
CONCLUSION: FBPase deficiency needs to be considered in any children with recurrent hypoglycemia and metabolic acidosis. Our study expands the spectrum of FBP1 gene mutations.
METHOD: Active case detection was done on cases living quarters and workplaces. Patients were interviewed, and their blood and urine samples were sent for methanol analysis. Samples of suspected alcoholic beverages were also sent for analysis. A suspected case was defined as any person presented with clinical symptoms with a history of consuming alcoholic beverages within five days before symptoms and high anion gap metabolic acidosis. A confirmed case was defined as a suspected case with positive blood and urine methanol.
RESULTS: In total, there were 25 suspected cases, of which 12 cases were confirmed. The calculated attack rate was 48%. There were six mortalities (50%) secondary to severe metabolic acidosis. The most common presenting symptom was vomiting (75%) and abdominal pain (41.7%). These cases were linked to consumption of illicitly produced alcohol. Samples of the alcoholic drinks were positive containing high level of methanol.
CONCLUSION: The methanol outbreak in the Hulu Langat was successfully managed. Appropriate control and prevention measures were taken, including health promotion and joint enforcement activities. Steps were taken successfully through collaborations with multiple agencies and cooperation with Selangor Health Departments and the Ministry of Health. Continuous surveillance on the product of liquor, and health promotion are essential to prevent a similar outbreak from happening again in future.
Methods: Sixty-six severe TBI patients who required emergency craniotomy or craniectomy and were planned for post-operative ventilation were randomised into NS (n = 33) and BF therapy groups (n = 33). The calculation of maintenance fluid given was based on the Holliday-Segar method. The electrolytes and acid-base parameters were assessed at an 8 h interval for 24 h. The data were analysed using repeated measures ANOVA.
Results: The NS group showed a significant lower base excess (-3.20 versus -1.35, P = 0.049), lower bicarbonate level (22.03 versus 23.48 mmol/L, P = 0.031), and more hyperchloremia (115.12 versus 111.74 mmol/L, P < 0.001) and hypokalemia (3.36 versus 3.70 mmol/L, P < 0.001) than the BF group at 24 h of therapy. The BF group showed a significantly higher level of calcium (1.97 versus 1.79 mmol/L, P = 0.003) and magnesium (0.94 versus 0.80 mmol/L, P < 0.001) than the NS group at 24 h of fluid therapy. No significant differences were found in pH, pCO2, lactate, and sodium level.
Conclusion: BF therapy showed better effects in maintaining higher electrolyte parameters and reducing the trend toward hyperchloremic metabolic acidosis than the NS therapy during prolonged fluid therapy for postoperative TBI patients.
CASE PRESENTATION: A 52-year-old Malay gentleman, with hepatitis C virus and HIV infection was admitted to the intensive care unit for severe lactic acidosis, with concurrent Escherichia coli bacteremia with multiorgan dysfunction. The patient was started on highly active antiretroviral therapy, which included tenofovir, 5 weeks before presentation. Antimicrobial therapy, continuous veno-venous hemofiltration, and other supportive treatments were instituted. However, the patient eventually succumbed to his illness.
CONCLUSIONS: It is essential for clinicians to be able to recognize the signs and symptoms of lactic acidosis in NRTIs treated HIV patients, as an early diagnosis is important to institute treatment.
Methods: Septic patient with hyperlactatemia and metabolic acidosis were randomized to receive either high SID fl uid or Hartmann's solution during initial fl uid resuscitation. The primary outcome measures the pH and bicarbonate levels difference pre- and post- resuscitation.
Results: One hundred and sixty-two patients underwent randomization, 81 were assigned each to receive high SID fluid or Hartmann's solution. Both groups had similar baseline characteristics. High SID group received 23.5 mL/kg and the Hartmann's group received 22.7 mL/kg (p = 0.360). High SID fluid increased the mean (± SD) pH by 0.107 (± 0.09) vs. Hartmann's solution by 0.014 (± 0.12), p ≤ 0.001. Mean bicarbonate level increased signifi cantly in high SID group compared to Hartmann's (4.30 ± 3.76 vs. 1.25 ± 3.33, p ≤ 0.001). High SID group had higher post resuscitation lactate clearance than Hartmann's group (25.4 ± 28.3% vs. 12.0 ± 34.1%, p = 0.009). Shorter hospital stay was observed in highSID group 8.04 ± 5.96 days vs. Hartmann's group 12.18 ± 12.41 days (p = 0.048). Both groups showed no difference in incidence of pulmonary oedema, acute kidney injury and mortality.
Conclusions: Initial resuscitation using high SID fluid in selected septic patient improves pH and bicarbonate levels. The high SID group had better post resuscitation lactate clearance and shorter hospital stay.
METHODS: Scientific literature was thoroughly searched to find 1) DKA treatment guidelines, 2) studies reporting hypokalemia in DKA, 3) and literature elaborating mechanisms involved in hypokalemia.
RESULTS: Acidosis affects SK and its regulators including insulin, catecholamines and aldosterone. Current conceptual framework is an argument to gauge the degree of hypokalemia before it strikes DKA patients utilizing SK level after adjusting it with pH. Suggested approach will reduce hypokalemia risk and its associated complications. The nomogram calculates pH-adjusted potassium and expected potassium loss. It also ranks hypokalemia associated risk, and proposes the potassium-replacement rate over given time period. The differences between current DKA treatment guidelines and proposed strategy are also discussed. Moreover, reasons and risk of hyperkalemia due to early initiation of potassium replacement and remedial actions are debated.
CONCLUSION: In light of proposed strategy, utilizing the nomogram ensures reduced incidence of hypokalemia in DKA resulting in improved clinical and patient outcomes. Pharmacoeconomic benefits can also be expected when avoiding hypokalemia ensures early discharge.