scholarly journals Late-Life Presentation of Unsuspected G6PD Deficiency

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Marcos Benchimol ◽  
Laura Bernardo Madeira ◽  
Ricardo de Oliveira-Souza
Keyword(s):  
G6pd Deficiency ◽  
Clinical Manifestations ◽  
Diagnostic Challenge ◽  
Packed Red Blood Cells ◽  
Wide Range ◽  
Hemolytic Crisis ◽  
History Of ◽  
Triggering Conditions ◽  
Red Blood Cell Count ◽  
Glucose 6 Phosphate Dehydrogenase

Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is the commonest enzyme deficiency in humans with a wide range of possible clinical manifestations depending on the specific genetic variant in each case. Here we present the case of an 86-year-old male of African descent who acutely developed symptoms of G6PD deficiency immediately after he received methylene blue for treating methemoglobinemia. The contrast between a low SO2 on pulse oximetry and a normal arterial gas sampling raised the possibility of methemoglobinemia. The patient was treated with packed red blood cells and folic acid, and a rapid clinical improvement followed by normalization of the red blood cell count ensued. In view of the patient’s advanced age, the lack of a history of similar episodes in the past, and the normal laboratory results during the hemolytic crisis, this case remained a diagnostic challenge for over three months, when a follow-up measure of G6DP activity eventually confirmed the diagnosis. A latent deficiency of G6PD may become clinically manifest under the appropriate triggering conditions even in elderly patients and in the absence of past or current clinical and laboratory evidence of G6PD deficiency.

scholarly journals Hemolytic Crisis following Naphthalene Mothball Ingestion in a 21-Month-Old Patient with Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Maricel Dela Cruz ◽  
Muhammad Masood Khalid ◽  
Ahmed Mostafa ◽  
Muhammed Ershad ◽  
David Vearrier ◽  
...  
Keyword(s):  
Blood Transfusion ◽  
G6pd Deficiency ◽  
Pediatric Intensive Care ◽  
Dermal Absorption ◽  
Vulnerable Children ◽  
Household Item ◽  
Hemolytic Crisis ◽  
History Of ◽  
Haptoglobin Level ◽  
Glucose 6 Phosphate Dehydrogenase

Introduction. Naphthalene is an aromatic hydrocarbon that may be found in mothballs and deodorizers. Exposure can occur by ingestion or dermal absorption. We present a case of acute hemolysis requiring blood transfusion in a 21-month-old male with a history of glucose-6-phosphate dehydrogenase (G6PD) deficiency after ingestion of a naphthalene-containing mothball. Case Presentation. A 21-month-old male with G6PD deficiency presented to the emergency department three hours following an exploratory ingestion of a naphthalene-containing mothball. On arrival, the patient was tachycardic with normal blood pressure, temperature, respiratory rate, and oxygen saturation. Initial laboratory studies showed significant anemia with elevated reticulocyte count, blood urea nitrogen, total bilirubin, and lactate dehydrogenase. Haptoglobin level was low, and the methemoglobin level was unremarkable. The patient was admitted to the pediatric intensive care unit and underwent blood transfusion. Discussion. This case serves as a reminder that mothballs, a ubiquitous household item, can be hazardous when accessible to vulnerable children. Care should be taken to secure these products and prevent ingestion.

DIAGNOSTIC VALUE OF SPECIFIC ANTIBODY SYNTHESIS IN BRAIN OF PATIENTS WITH NEUROINFECTIONS

2019 ◽  
Vol 72 (8) ◽  
pp. 1437-1441
Author(s):  
Pavel Dyachenko ◽  
Igor Filchakov ◽  
Anatoly Dyachenko ◽  
Victoria Kurhanskaya
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Manifestations ◽  
Diagnostic Value ◽  
Diagnostic Challenge ◽  
Specific Antibodies ◽  
Intrathecal Synthesis ◽  
Varicella Zoster ◽  
Mrz Reaction ◽  
Wide Range

Introduction: Viral encephalitis accounts for 40-70% of all cases worldwide, central nervous system infections pose a diagnostic challenge because clinical manifestations are not typically pathognomonic for specific pathogens, and a wide range of agents can be causative. The aim: To assess the diagnostic value of intrathecal synthesis of specific antibodies in patients with inflammatory lesions of the central nervous system. Materials and methods: Within the framework of the study, two groups of 90 people in each were formed from the patients with neuroinfections admitted to our Center. Intrathecal synthesis (ITS) of total (unspecific) IgG in members of one of group (group of compare) was determined. Brain synthesis of specific antibodies (Ab) to some neurotropic pathogens (herpes simplex virus 1/2, cytomegalovirus, Epstein-Barr virus, varicella zoster virus, rubella virus, Borrelies) was studied in the second group of patients (group of interest). There were no statistically significant differences between groups by gender and age. Encephalitis and encephalomyelitis prevailed among patients of both groups Results: ITS of total IgG was established in 30 (33.3 ± 6.1 %) patients of the first group with IgG index more than 0.6 indicating on inflammatory process in CNS and no marked changes of CSF. ITS of specific Ab was determined in 23 of 90 (25.6 ± 4.6 %) patients included into group of interest. In more than half of cases Ab to several infectious agents were detected simultaneously. ITS of various specificity, in particular, to measles and rubella viruses, and VZV, known as MRZ-reaction, is characteristic of some autoimmune lesions of CNS, multiple sclerosis first of all. In fact, further research of 5 patients with MRZ-reaction confirmed their autoimmune failure of CNS. Detection of ITS in the CSF samples didn’t depend on concentration of specific Ab in serum and CSF and wasn’t followed by HEB dysfunctions which were observed with the same frequency in patients with or without ITS (13.0 % and 13.6 % respectively). Conclusion: Specific Ab synthesis to several neurotropic pathogens in the CSF of significant part of examined patients was established. Thus, diagnostic value of ITS of specific immunoglobulins seems to be limited to cases in which autoimmune damage of the CNS is suspected.

scholarly journals From Prejudice to Evidence: The Case of Rhizoma Coptidis in Singapore

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Chin Ee Ho ◽  
You Li Goh ◽  
Chang Zhang
Keyword(s):  
Chinese Medicine ◽  
Traditional Chinese Medicine ◽  
G6pd Deficiency ◽  
Neonatal Jaundice ◽  
Therapeutic Effects ◽  
Evidence Based ◽  
Rhizoma Coptidis ◽  
History Of ◽  
Hepatoprotective Effects ◽  
Glucose 6 Phosphate Dehydrogenase

Rhizoma Coptidis (RC), commonly known ashuanglian, is a herb frequently used in Traditional Chinese Medicine (TCM) prescriptions. Known to have “clearing damp-heat, quenching fire and counteracting poison” properties, it was widely used in the Chinese community in Singapore. Berberine, an alkaloid isolated from RC, is known to have a wide array of therapeutic effects including antimicrobial, antineoplastic, and hepatoprotective effects. In 1978, RC was implicated in causing neonatal jaundice (NNJ) and kernicterus in neonates suffering from glucose-6-phosphate dehydrogenase (G6PD) deficiency, leading to the banning of RC and berberine in Singapore. More than three decades later, accumulating evidence-based studies pointing to the safety of RC for general public and better understanding of G6PD deficiency, the Health Sciences Authority (HSA) in Singapore reviewed and lifted the prohibition on RC and berberine, turning a brand new chapter in the history of TCM in Singapore. This paper aims to review the safety of RC and berberine, using the prohibition of use and subsequent lifting of ban on RC and berberine in Singapore as an illustration to highlight the importance of evidence-based studies in Traditional Chinese Medicine (TCM).

scholarly journals A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase Deficiency

2020 ◽  
Author(s):  
Jitendar Mohan Khunger ◽  
Monika Gupta ◽  
Ankur Jain ◽  
Monica Khunger Malhotra
Keyword(s):  
Oxidative Stress ◽  
Blood Cells ◽  
G6pd Deficiency ◽  
Rare Case ◽  
Dehydrogenase Deficiency ◽  
Globin Gene ◽  
Genetic Abnormality ◽  
Wide Range ◽  
Symptomatic Anaemia ◽  
Glucose 6 Phosphate Dehydrogenase

β-thalassaemia is one of the most prevalent autosomal disorders worldwide. Mutations/deletions in globin gene underlie deficiencies in Haemoglobin (Hb) production, which can interfere with oxygen delivery by Hb, resulting in thalassaemias causing anaemias with a wide range of disease severity. Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic abnormality resulting in inadequate amount of G6PD in the Red Blood Cells (RBCs). In patients with G6PD deficiency, the reduced or absent activity of the enzyme in RBCs causes premature haemolysis and symptomatic anaemia. The marked oxidative stress caused by homozygous β-thalassaemia is apparently incompatible with G6PD deficiency. Here, a rare case of six-month-old male child is described who presented with severe pallor hepato-splenomegaly and these two conditions co-existed in this patient.

Cingulate gyrus epilepsy

2018 ◽  
Vol 18 (6) ◽  
pp. 447-454 ◽  
Author(s):  
Rob Powell ◽  
Robert Elwes ◽  
Khalid Hamandi ◽  
Nandini Mullatti
Keyword(s):  
Corpus Callosum ◽  
Limbic System ◽  
Clinical Manifestations ◽  
Cingulate Cortex ◽  
Imaging Features ◽  
Cingulate Gyrus ◽  
Seizure Onset ◽  
Diagnostic Challenge ◽  
Rare Form ◽  
Wide Range

The cingulate gyrus is located above the corpus callosum and forms part of the limbic system. Cingulate gyrus epilepsy poses a diagnostic challenge, given its diverse and variable seizure semiology. We present two patients with seizures arising in the cingulate gyrus that highlight the electroclinical and imaging features of this rare form of epilepsy. Cingulate seizures can give a wide range of clinical manifestations, which relate to the underlying neuroanatomy and subdivisions of the cingulate cortex. Here, we review the semiology of cingulate epilepsy and how this relates to the location of seizure onset and patterns of propagation.

scholarly journals The enzymopathy of G6PD deficiency in Jordan: a demographic and biochemical analysis

2018 ◽  
Vol 10 (1) ◽  
pp. 25-32
Author(s):  
Ahmed Al-Imam
Keyword(s):  
G6pd Deficiency ◽  
Liver Enzymes ◽  
Clinical Manifestations ◽  
University Hospital ◽  
Drug Induced ◽  
Mean Values ◽  
Significant Difference ◽  
Wbc Count ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Blood Grouping

Background: G6PD deficiency is an inherited X-linked recessive condition leading to insufficient levels of glucose-6-phosphate dehydrogenase, thus causing hemolytic anaemia under certain circumstances. Materials and Methods: Our study is explorative for cases admitted to Jordan University Hospital. The studied parameters include demographics, clinical manifestations, biochemical markers including Hb level, WBC count, liver enzymes, and blood grouping. Results: Most of the patients were admitted to the emergency unit (53.13%). Individuals who were Rh-positive represented 57.81%, while patients of AB blood group accounted for 75%. The mean values were 4.81 years (age), 29.06 hours (time-to-hospital admission), 38.10 degree Celsius (temperature), 6.11 gm/dl (Hb), 13242.19 (WBC count), 343.20 U/L (S. ALP), and 50.98 IU/L (S. ALT). There was no significant difference between males and females or between favism-induced versus drug-induced hemolytic episodes. AB and Rh positive blood groups are of a protective effect in relation to liver enzymes. Patients who were admitted to the hospital within 24 hours from having clinical manifestations had a better prognosis. Conclusion: This study is the first inferential research on G6PD deficiency from the Middle East to explore cases from one of the largest healthcare centres in Jordan. The role of blood grouping should be investigated prospectively.

scholarly journals Glucose-6-phosphate Dehydrogenase Deficiency Induced Haemolysis in Male With Newly Diagnosed Diabetes During Diabetic Ketoacidosis Treatment: A Case Report

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A383-A383
Author(s):  
Eman Ebrahim Albasri
Keyword(s):  
Glucose Level ◽  
Plasma Glucose ◽  
G6pd Deficiency ◽  
Bacterial Infections ◽  
Epigastric Pain ◽  
Vital Signs ◽  
Epidemiological Data ◽  
Insulin Injection ◽  
History Of ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency could be a risk factor for diabetes, as suggested by various epidemiological data, but still a matter of debate. The occurrence of haemolysis during diabetes crises was reported in patients with G6PD deficiency, furthermore the fall in glucose level during the treatment of hyperglycemia is suggested as a possible cause for hemolysis in G6PD deficiency. We reviewed the mechanisms that may link the two diseases. Clinical Case: A 19-year-old male, with G6PD deficiency, presented to the emergency department in our institution with history of generalised weakness, epigastric pain, nausea, and vomiting. He gave history of polyuria, polydepsia and weight loss over a period of two weeks. Diagnosis of DM was confirmed by laboratory tests that showed a mild DKA: arterial pH 7.28, HCO3 18 mmol/l, plasma glucose 21 mmol/l, urinary ketones ++, and hemoglobin 16.1 g/dl (12.0–15.0 g/dl). DKA was treated according to DKA guidelines. Ketoacidosis remission was achieved two days after rehydration and treatment with continuous intravenous insulin infusion (0.05–0.1 IU/kg). The patient then started on subcutaneous intensive insulin injection therapy, three times daily before meals and once before bedtime. Fasting and post-prandial blood glucose levels decreased to 7-8mmol/L, and 10 –13 mmol/l respectively. On day 4, the patient developed dizziness while he was taking a bath, On examination he was pale and had icterus, however, the vital signs and systemic examination were normal, blood tests revealed a hemolytic anemia as follows: (normal values): Hemoglobin 9 g/dl (12.0–15.0 g/dl), reticulocytes 8.5% (0.5–1.5%), total bilirubin 82 umol/l (0–20 umol/l), unconjugated bilirubin 58 umol/l (3–15 umol/l), By the 7th day, hemoglobin levels had fallen to the lowest value of 8.3, then gradually raised to 10.2 g/dl, 2 weeks later, hemoglobin electrophoresis was normal, Coombs test was negative. G6PD activity was below 300 U/L (reduced activit<600) with two separate measurements. The patient had no bacterial infections and had not ingested haemolytic drugs. Hemolysis ceased spontaneously and hemoglobin increased gradually. Conclusion: G6PD deficiency and diabetes mellitus could aggravate each other, and In patients at risk of G6PD deficiency screening of the enzyme activity should be considered following diabetes decompensation, and in case of G6PD deficiency, it is advisable to correct plasma glucose level gradually to avoid the rapid drop in glucose availability, which may cause hemolysis in these patients.

scholarly journals Establishment of a stable zg6pdM118-144 transgenic zebrafish model of glucose-6-phosphate dehydrogenase deficiency

2020 ◽  
Author(s):  
Hai-Xiong Xia ◽  
Yan-Hua Zhou ◽  
Yuan-Yuan Tuo ◽  
Ping-Ping Ren ◽  
Jin Song ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Genetic Defect ◽  
Clinical Manifestations ◽  
Wide Distribution ◽  
Health Concern ◽  
Transgenic Zebrafish ◽  
Zebrafish Model ◽  
Malaria Therapy ◽  
Glucose 6 Phosphate Dehydrogenase

AbstractGlucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common genetic defect and enzymopathy with a wide distribution and increased public health concern, predisposes subjects succumb to oxidative stress. G6PD deficiency has been associated with hemolysis. Clinically, G6PD deficiency is asymptomatic and the clinical manifestations occur with the exposure to certain agents. Due to the lack of suitable animal models that can predict the clinical hemolytic potential of drugs, it needs an appropriate research model to fully recapitulate the manifestations of G6PD deficiency in clinic, to optimize the malaria therapy and promote anti-malarias development. The present study has displayed a stable transgenic Tg(zgata1-g6pdM118-144-egfp) zebrafish model with G6PD deficiency which mimics the clinical features of G6PD deficiency phenotypically and functionally. The findings showed that there was an inadequate level of reduced GSH in the transgenic Tg(zgata1-g6pdM118-144-egfp) zebrafish line in the presence or absence of α-naphthol, compared to the wildtype zebrafish, indicating an attenuation of g6pd activity in the transgenic zebrafish line. In addition, the observations show that there is a less abundance of g6pd in the transgenic Tg(zgata1-g6pdM118-144-egfp) zebrafish line. On the other hand, there is no morphological abnormality in the transgenic Tg(zgata1-g6pdM118-144-egfp) zebrafish line. Taken together, our work has delivered a novel stable transgenic zebrafish model of G6PD deficiency that will facilitate the mechanistic and functional elucidation for the role of G6PD in erythrocytic pathophysiology. This model will promote the translational research for the drug development, in particular, for anti-malarias development.

scholarly journals Fine mapping of Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency in rural area of South West Odisha using the clinical, hematological and molecular approach

2020 ◽  
Vol 12 (1) ◽  
pp. e2020015
Author(s):  
Ravindra Kumar ◽  
MPSS Singh ◽  
Soumendu Mahapatra ◽  
Sonam Chourasia ◽  
Malay Kumar Tripathi ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
Clinical History ◽  
South West ◽  
Normal Individuals ◽  
Pcr Rflp ◽  
History Of ◽  
Tribal Populations ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
National Prevalence

Introduction: The aim of the study was to enumerate the clinical, hematological and molecular spectrum of G6PD deficiency in malaria endemic regions of south west Odisha. Methods: Diagnosis of G6PD deficiency was made by using the Di-chloroindophenol Dye test in from two south west districts (Kalahandi and Rayagada) of Odisha State. Demographic and clinical history was taken from each individual using a pre-structured questionnaire. Molecular characterization of G6PD deficiency was done using PCR-RFLP and Sanger sequencing. Results:  A total of 1981 individuals were screened, out of which 59 (2.97%) individuals were found G6PD deficient. Analysis revealed that G6PD deficiency was more in males (4.0%) as compared to females (2.3%). G6PD deficiency was significantly higher in tribal population (4.8%) as compared to non-tribal populations (2.4%) (p=0.012, OR=2.014, 95%CI =1.206-3.365). Individuals with history of malaria and G6PD deficiency have high risk of need of blood transfusion than G6PD normal individuals (p=0.026, OR=3.816, 95%CI=1.079-13.496). Molecular analysis revealed G6PD Orissa as the most common (88%) mutation 88% in the studied cohort. G6PD Kaiping (n=3), G6PD Coimbra (n=2) and G6PD Union (n=1) were also identified in studied cohort.  Conclusion: The cumulative prevalence of G6PD deficiency the present is below the estimated national prevalence. G6PD deficiency was higher in tribes as compared to non-tribes. Rare G6PD Kaiping and G6PD Union variants have been identified.

scholarly journals Background History, Clinical Presentation and Laboratory Profile in Cases of Suspected Neurometabolic Disorders

2016 ◽  
Vol 39 (1) ◽  
pp. 24-29 ◽  
Author(s):  
Mustafa Mahbub ◽  
AZM Mosiul Azam ◽  
Suraj C Mazumder ◽  
Bithi Debnath ◽  
Naila Zaman Khan
Keyword(s):  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Normal Activity ◽  
New Delhi ◽  
Laboratory Findings ◽  
Neurometabolic Disorders ◽  
Wide Range ◽  
History Of ◽  
Background History ◽  
Biotinidase Activity

Background : Neurometabolic disorders (NMD) in children may present at any age with a wide range of clinical manifestations. Unexplained or intractable seizure is one of the important associations. Consanguinity, regression of development and sibling death are the clues to suspect neurometabolic disorders when laboratory support is limited. Laboratory findings however, provide the confirmatory diagnosis which is unavailable in Bangladesh.Objectives : To determine the association of consanguinity, regression of development, seizures, EEG findings and other laboratory investigations in children suspected to have neurometabolic disorders and to aid clinicians working in resourcepoor countries.Methodology : A retrospective analysis was done from the records of the patients suspected to have neurometabolic disorders admitted in the department of Neurosciences, Dhaka Shishu Hospital, Dhaka during the period of July 2007 to February 2011. Tandem Mass Spectrometry (TMS), biotinidase activity and other enzyme assay were done through a private laboratory in New Delhi, India.Results : Total 128 children were studied and the parents of 39 (31%) had history of consanguineous marriage. Seizure was associated with 96 (75%) children and abnormal EEG findings were recorded in 83 (65%). Plasma ammonia was done in 98 cases and found to be increased in 53 (54%) cases. Plasma lactate was done in 94 cases and found high in 40 (43%). TMS were done in 111 (85%) children and abnormality were found in 70 (63%) cases. Serum biotinidase activity was advised for 41 children as per TMS result and measured in 25 children of which deficient activity was found in 17(68%); borderline in 4 (16%) and normal activity in 4 (16%) cases.Conclusion: Background history and clinical presentation followed by stepwise laboratory investigation is necessary to identify neurometabolic disorders. Early and appropriate intervention can reduce neurodisability in many situations.Bangladesh J Child Health 2015; VOL 39 (1) :24-29

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