Displaying publications 1 - 20 of 49 in total

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  1. Afroze B, Amjad N, Ibrahim SH, Humayun KN, Yakob Y
    Brain Dev, 2014 Nov;36(10):924-7.
    PMID: 24508408 DOI: 10.1016/j.braindev.2013.12.009
    Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are established subgroups of mitochondrial encephalomyopathy. m.3243A>G a common point mutation is detected in tRNA in majority of patients with MELAS phenotype whereas m.8344A>G point mutation in tRNA is observed, in MERRF phenotype. Adrenal insufficiency has not been reported in mitochondrial disease, except in Kearns-Sayre Syndrome (KSS), which is a mitochondrial deletion syndrome. We report an unusual presentation in a five year old boy who presented with clinical phenotype of MELAS and was found to have m.8344A>G mutation in tRNA. Addison disease was identified due to hyperpigmentation of lips and gums present from early childhood. This is the first report describing adrenal insufficiency in a child with MELAS phenotype.
    Matched MeSH terms: Acidosis, Lactic
  2. Arumugasamy N, Siqueira EB
    Med J Malaya, 1970 Dec;25(2):155-60.
    PMID: 4251137
    Matched MeSH terms: Acidosis/complications; Acidosis/etiology*; Diabetic Ketoacidosis
  3. Bruce LJ, Wrong O, Toye AM, Young MT, Ogle G, Ismail Z, et al.
    Biochem. J., 2000 Aug 15;350 Pt 1:41-51.
    PMID: 10926824
    We describe three mutations of the red-cell anion exchangerband 3 (AE1, SLC4A1) gene associated with distalrenal tubular acidosis (dRTA) in families from Malaysia and Papua NewGuinea: Gly(701)-->Asp (G701D), Ala(858)-->Asp(A858D) and deletion of Val(850) (DeltaV850). The mutationsA858D and DeltaV850 are novel; all three mutations seem to berestricted to South-East Asian populations. South-East Asianovalocytosis (SAO), resulting from the band 3 deletion of residues400-408, occurred in many of the families but did not itselfresult in dRTA. Compound heterozygotes of each of the dRTA mutationswith SAO all had dRTA, evidence of haemolytic anaemia and abnormal red-cell properties. The A858D mutation showed dominant inheritance and therecessive DeltaV850 and G701D mutations showed a pseudo-dominantphenotype when the transport-inactive SAO allele was also present. Red-cell and Xenopus oocyte expression studies showed that theDeltaV850 and A858D mutant proteins have greatly decreased aniontransport when present as compound heterozygotes (DeltaV850/A858D,DeltaV850/SAO or A858D/SAO). Red cells with A858D/SAO had only 3% ofthe SO(4)(2-) efflux of normal cells, thelowest anion transport activity so far reported for human red cells. The results suggest dRTA might arise by a different mechanism for eachmutation. We confirm that the G701D mutant protein has an absoluterequirement for glycophorin A for movement to the cell surface. Wesuggest that the dominant A858D mutant protein is possibly mis-targetedto an inappropriate plasma membrane domain in the renal tubular cell,and that the recessive DeltaV850 mutation might give dRTA because ofits decreased anion transport activity.
    Matched MeSH terms: Acidosis, Renal Tubular/genetics*
  4. Campion KL, McCormick WD, Warwicker J, Khayat ME, Atkinson-Dell R, Steward MC, et al.
    J Am Soc Nephrol, 2015 Sep;26(9):2163-71.
    PMID: 25556167 DOI: 10.1681/ASN.2014070653
    The calcium-sensing receptor (CaR) modulates renal calcium reabsorption and parathyroid hormone (PTH) secretion and is involved in the etiology of secondary hyperparathyroidism in CKD. Supraphysiologic changes in extracellular pH (pHo) modulate CaR responsiveness in HEK-293 (CaR-HEK) cells. Therefore, because acidosis and alkalosis are associated with altered PTH secretion in vivo, we examined whether pathophysiologic changes in pHo can significantly alter CaR responsiveness in both heterologous and endogenous expression systems and whether this affects PTH secretion. In both CaR-HEK and isolated bovine parathyroid cells, decreasing pHo from 7.4 to 7.2 rapidly inhibited CaR-induced intracellular calcium (Ca(2+)i) mobilization, whereas raising pHo to 7.6 potentiated responsiveness to extracellular calcium (Ca(2+)o). Similar pHo effects were observed for Ca(2+)o-induced extracellular signal-regulated kinase phosphorylation and actin polymerization and for L-Phe-induced Ca(2+)i mobilization. Intracellular pH was unaffected by acute 0.4-unit pHo changes, and the presence of physiologic albumin concentrations failed to attenuate the pHo-mediated effects. None of the individual point mutations created at histidine or cysteine residues in the extracellular domain of CaR attenuated pHo sensitivity. Finally, pathophysiologic pHo elevation reversibly suppressed PTH secretion from perifused human parathyroid cells, and acidosis transiently increased PTH secretion. Therefore, pathophysiologic pHo changes can modulate CaR responsiveness in HEK-293 and parathyroid cells independently of extracellular histidine residues. Specifically, pathophysiologic acidification inhibits CaR activity, thus permitting PTH secretion, whereas alkalinization potentiates CaR activity to suppress PTH secretion. These findings suggest that acid-base disturbances may affect the CaR-mediated control of parathyroid function and calcium metabolism in vivo.
    Matched MeSH terms: Acidosis/metabolism
  5. Charl SS, Shahrul-Hisham S, Mohamad-Sha S
    Malays Orthop J, 2018 Mar;12(1):42-44.
    PMID: 29725512 MyJurnal DOI: 10.5704/MOJ.1803.009
    The diagnosis of pathological fractures is on the rise. The morbidity involved does not only burden the patient and their families but it has a great toll on the healthcare system as well. Early identification of the patient at risk is an invaluable tool to cut cost and improve the patient's quality of life. Multiple renal pathologies have been highlighted in relation to the risk of pathological fractures; however, complications in renal tubular acidosis have been rarely documented. Nevertheless, prompt action with adequate and relevant patient education ultimately can reduce the associated morbidity. We present a case of poor control of the disease and its debilitating pathological fracture complications.
    Matched MeSH terms: Acidosis, Renal Tubular
  6. Choo KE, Nicoli TK, Bruce LJ, Tanner MJ, Ruiz-Linares A, Wrong OM
    Pediatr Nephrol, 2006 Feb;21(2):212-7.
    PMID: 16252102
    Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive, caused either by homozygosity of a single AE1 mutation or by compound heterozygosity of two different AE1 mutations. We describe two unrelated boys in Sarawak with dRTA associated with compound heterozygosity of AE1 mutations. Both had Southeast Asian ovalocytosis (SAO), a morphological abnormality of red cells caused by a deletion of band 3 residues 400-408. In addition, one boy had a DNA sequence abnormality of band 3 residue (G701D), which has been reported from elsewhere in Southeast Asia. The other boy had the novel sequence abnormality of band 3 (Q759H) and profound hemolytic anemia.
    Matched MeSH terms: Acidosis, Renal Tubular/genetics*
  7. Chow YW, Leong CL, Chow HL, Hooi LS
    Med J Malaysia, 2007 Mar;62(1):78-80.
    PMID: 17682581
    Exposure to highly active antiretroviral therapy (HAART) may lead to adverse effects related to mitochondrial toxicity such as lactic acidosis. We describe two cases of severe lactic acidosis in HIV-positive patients to illustrate the clinical symptoms and abnormal laboratory results associated with this condition. There is a lack of awareness about the risk factors for developing severe lactic acidosis and recognition of its onset with dire consequences.
    Matched MeSH terms: Acidosis, Lactic/chemically induced*; Acidosis, Lactic/physiopathology
  8. Devadason I
    Med J Malaysia, 1976 Sep;31(1):75-6.
    PMID: 1023019
    Matched MeSH terms: Acidosis, Renal Tubular/complications*
  9. Faridah Hanim Zam Zam, Nazimah Idris, Tham, Seng Woh
    MyJurnal
    Background: Fetal surveillance in labour is performed mostly to identify fetuses at risk of hypoxia in order to reduce neonatal morbidity and mortality by initiating timely intervention. While normal and abnormal fetal heart rate (FHR) patterns have been well recognised and characterized for the first stage of labour, FHR patterns during the second stage of labour commonly showed some forms of abnormalities leading to problems in interpretation, particularly in predicting fetal hypoxia and acidosis. This study aims to identify patterns of FHR tracing during the second stage of labour associated with neonatal acidosis. Methods: A prospective cross sectional study was conducted in the Labour Ward of a state referral hospital. The study population were patients with low-risk
    singleton pregnancies between 37 to 42 weeks gestation who had normal cardiotocograph (CTG) tracing in the first stage of labour. CTG was recorded during the second stage of labour and neonatal umbilical cord blood was obtained for acid-base analysis immediately after birth prior to the delivery of placenta. FHR patterns were grouped according to modified Melchior and Barnard’s
    classification and matched with neonatal acid-base status. Patients with normal FHR pattern in the second stage acted as control. Results: A total of 111 matched pairs were analysed. Ninety nine (89.2%) second stage FHR tracings showed abnormal features when compared to control. There were significantly more neonatal acidosis and hypercapnia in type 1b, type 2a, type 2b and type 3 CTG patterns compared to control, in increasing order of severity. In addition, types 2b and 3 showed significant difference in the base excess. Conclusion: Certain second stage fetal heart rate
    patterns were found to be associated with neonatal acidosis.
    Matched MeSH terms: Acidosis
  10. Firdaus Hayati, Nornazirah Azizan, Nik Amin Sahid, Hilal Zahabi Abdul Fattah, Rohamini Sibin, Andee Dzulkarnaen Zakaria
    MyJurnal
    Necrotizing fasciitis (NF) is a deadly soft tissue infection causing a significant morbidity and mortality. Abdominal and chest wall NF are unusual. We describe a 49-year-old male with anterior abdominal wall NF secondary to per- forated gastric ulcer (PGU). He was admitted in septic shock presenting an abdominal wall NF with severe metabolic acidosis requiring dialysis and admission to the intensive care unit. There was a patch of gangrene with surrounding skin discoloration at lower quadrant of the abdominal wall. Local debridement was done without a preoperative computed tomography that was performed after surgery. Adequate source control was not achieved after the second surgery and the patient had worsened resulting to death. We describe this rare presentation of NF and discuss the issues learnt from this unfortunate event.
    Matched MeSH terms: Acidosis
  11. Goh AY, Chan PW
    Respirology, 1999 Mar;4(1):97-9.
    PMID: 10339738
    Acute myopathy complicating treatment of status asthmaticus has been increasingly recognized since its original description in 1977. We report a case of an 11-year-old boy with severe asthma requiring mechanical ventilation. He was given high doses of parenteral steroids and neuromuscular blockade with non-depolarizing agents in order to achieve controlled hypoventilation with an ensuing hypercapnoea. He developed rhabdomyolysis with elevated creatinine kinase and renal impairment secondary to myoglobinuria. Electrophysiological studies revealed myopathic abnormalities. The aetiology for this myopathy appears to be related to therapy with parenteral steroids, muscle-relaxant agents and respiratory acidosis. Patients treated with steroids and neuromuscular blocking agents should be regularly monitored for development of myopathy.
    Matched MeSH terms: Acidosis/complications*; Acidosis/etiology
  12. Goh BL, Tan SY
    Transplant Proc, 1998 Nov;30(7):3594-5.
    PMID: 9838575
    Matched MeSH terms: Acidosis, Renal Tubular/complications*
  13. Hanip MR, Cheong IK, Chin GL, Khalid BA
    Singapore Med J, 1990 Apr;31(2):159-61.
    PMID: 2371581
    Two cases of hypokalaemia with serum potassium levels of 1.4 mmol/L and 1.9 mmol/L causing severe periodic paralysis since childhood are presented. There were associated with muscular aches and markedly raised muscle enzymes suggesting massive rhabdomyolysis. These abnormalities were due to renal tubular acidosis with markedly acidic arterial pH. The hypokalaemia and rhabdomyolysis responded to potassium and bicarbonate replacement. We postulate these patients had sporadic distal type of renal tubular acidosis and that the hypokalaemia and acidosis had caused the rhabdomyolysis.
    Matched MeSH terms: Acidosis, Renal Tubular/complications*; Acidosis, Renal Tubular/physiopathology
  14. Hannah HB
    Br J Anaesth, 1971 Oct;43(10):991-3.
    PMID: 5115036
    Matched MeSH terms: Acidosis
  15. Hashim H, Sahari NS, Sazlly Lim SM, Hoo FK
    Iran Red Crescent Med J, 2015 Oct;17(10):e19546.
    PMID: 26568856 DOI: 10.5812/ircmj.19546
    INTRODUCTION: The introduction of highly active antiretroviral therapy (HAART), in 1996, has resulted in marked reductions in the rate of illness and death, due to HIV infection. The HAART has transformed HIV infection into a manageable chronic disease. However, although many regimens lower plasma viral load, to below the limit of detection, in most patients, maintaining viral load suppression remains challenging, because of adverse effects and toxicity in the long term, which can lead to non-adherence, virologic failure and drug resistance. Although rare, lactic acidosis often develops fatal complications, as reported in several human immunodeficiency virus infected patients treated with nucleoside reverse transcriptase inhibitors (NRTIs). The purpose of this paper is to report a case of tenofovir induced lactic acidosis and review the literature.

    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.

    Matched MeSH terms: Acidosis, Lactic
  16. Hassan MH, Hassan WMNW, Zaini RHM, Shukeri WFWM, Abidin HZ, Eu CS
    Malays J Med Sci, 2017 Oct;24(5):83-93.
    PMID: 29386975 MyJurnal DOI: 10.21315/mjms2017.24.5.9
    Background: Normal saline (NS) is a common fluid of choice in neurosurgery and neuro-intensive care unit (ICU), but it does not contain other electrolytes and has the potential to cause hyperchloremic metabolic acidosis with prolonged infusion. These problems may be reduced with the availability of balanced fluid (BF), which becomes a more physiological isotonic solution with the presence of complete electrolyte content. This study aimed to compare the changes in electrolytes and acid-base between NS and BF (Sterofundin® ISO) therapy for post-operative severe traumatic brain injury (TBI) patients in neuro-ICU.

    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.

    Matched MeSH terms: Acidosis
  17. Heo HY, Tee YK, Harston G, Leigh R, Chappell MA
    NMR Biomed, 2023 Jun;36(6):e4734.
    PMID: 35322482 DOI: 10.1002/nbm.4734
    Amide proton transfer (APT) imaging, a variant of chemical exchange saturation transfer MRI, has shown promise in detecting ischemic tissue acidosis following impaired aerobic metabolism in animal models and in human stroke patients due to the sensitivity of the amide proton exchange rate to changes in pH within the physiological range. Recent studies have demonstrated the possibility of using APT-MRI to detect acidosis of the ischemic penumbra, enabling the assessment of stroke severity and risk of progression, monitoring of treatment progress, and prognostication of clinical outcome. This paper reviews current APT imaging methods actively used in ischemic stroke research and explores the clinical aspects of ischemic stroke and future applications for these methods.
    Matched MeSH terms: Acidosis*
  18. Huan, Nai Chien, Wan Awatif Wan Mohd Zohdi
    MyJurnal
    High anion gap metabolic acidosis (HAGMA) is a hallmark of Diabetic Ketoacidosis (DKA). Occasionally, a Normal Anion Gap Metabolic Acidosis (NAGMA) can be seen, especially during the treatment phase. In this case report, a 55-year-old lady with diabetes mellitus who presented with a 2-day history of fever, lethargy and multiple episodes of vomiting and diarrhoea. Initial laboratory investigations revealed: capillary blood glucose as 27 mmol/L, urine ketone as 3+, blood ketone as 3.5 mmol/L, serum bicarbonate as 14 mmol/L, and serum chloride as 95 mmol/L. She was treated with intravenous normal saline fluid resuscitation and constant rate insulin infusion which was fortunately accompanied by stabilization of blood glucose and normalization of blood ketone to 0.2 mmol/L. However, despite normalization of her anion gap (25 to 14), she remained unwell with acidotic breathing due to refractory hyperchloraemic NAGMA with bicarbonate at 11 mol/L and chloride of 112 mmol/L. It was then decided to administer 100 mL of 8.4% Sodium Bicarbonate solution. The next day, she was no longer tachypneic as her bicarbonate and carbon dioxide improved to 21 mmol/L and 32 mmHg respectively. The presence of NAGMA in DKA should prompt clinicians to conduct a thorough search for possible underlying causes, such as gastrointestinal fluid loss, sepsis and chloride load from aggressive fluid resuscitation with normal saline. Sodium bicarbonate should only be considered in intractable cases to correct a NAGMA and not routinely used in the treatment of DKA.
    Matched MeSH terms: Acidosis; Diabetic Ketoacidosis
  19. Isa WY, Daud KM
    Intern. Med., 2011;50(16):1765-8.
    PMID: 21841342
    We report a case of renal tubular acidosis (RTA) in a patient with HIV infection and AIDS. A 33-year-old HIV-positive man with Hepatitis C and tuberculous lymphadenitis was admitted due to deep venous thrombosis and generalized muscle weakness. He had never received anti-retroviral medication. The blood gases and serum electrolytes showed hyperchloremic normal anion gap metabolic acidosis with severe hypokalemia and alkaline urine. Diagnosis of distal RTA was made. His renal function and serum globulin level remained within normal range throughout his illness. Clinicians should be alert to renal tubular disorders in HIV/AIDS patients even in the absence of anti-retroviral therapy or hypergammaglobulinemic state.
    Matched MeSH terms: Acidosis, Renal Tubular/complications*; Acidosis, Renal Tubular/diagnosis*
  20. Johnson RO, Johnson BH, Raman A, Lee EL, Lam KL
    Aust Paediatr J, 1979 Jun;15(2):101-6.
    PMID: 485988
    Matched MeSH terms: Acidosis/etiology*; Acidosis/metabolism
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