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Childhood-Onset Systemic Lupus Erythematosus Presenting With Concomitant Gastrointestinal Manifestation and Antiphospholipid Syndrome

Mohd Shukri ND, Wan Mohamad WM, Wan Ab Rahman WS

Cureus, 2023 Nov;15(11):e49205.
PMID: 38024034 DOI: 10.7759/cureus.49205

Childhood-onset systemic lupus erythematosus is a rare disease that is more prevalent in Southeast Asian children than in Western children. It is characterised by a peripubertal onset and a female predominance that rises with age. Haematological, renal, and mucocutaneous are among the frequently involved organs upon diagnosis. Some of the typical symptoms include cutaneous vasculitis, malar rash, and fever. Patients frequently had proliferative class IV lupus nephritis, which increases disease activity and kidney damage. We reported a child presented with fever associated with multiple joint pain, skin rashes over the fingers of the right hand, and generalised abdominal pain.
Fulltext Thrombotic thrombocytopenic purpura: three peripartum cases and diagnostic challenges

Ab Rahman WS, Abdullah WZ, Mustaffa R, Ahmed SA, Hassan MN, Husin A

Clin Med Insights Case Rep, 2013;6:141-6.
PMID: 24093001 DOI: 10.4137/CCRep.S12122

Thrombotic thrombocytopenic purpura (TTP) is a medical emergency characterized by occlusive microangiopathy due to intravascular platelet aggregation. This event results in damage to the red blood cells (RBCs) known as microangiopathic hemolytic anemia (MAHA). Schistocytes are circulating fragments of damaged RBCs that have different morphological features including keratocytes, helmet cells, and spherocytes. It is critical to report even a small number of these abnormal RBCs in the peripheral blood and to be alert for the possible diagnosis of TTP, especially in unexplained anemia and thrombocytopenia. The application of pentad criteria in the diagnosis has been reviewed, and the challenges still remained on the hematologic evidence of this disorder. In the 3 cases discussed here, the red cell morphological diagnosis gave an impact on TTP diagnosis, but overdiagnosis might be encountered in obstetrical patients due to nonspecific diagnostic criteria.
Epidemiology, spectrum of clinical manifestations and diagnostic issue of acquired haemophilia: A case series

Wan Ab Rahman WS, Abdullah WZ, Husin A, Nik Mohd Hassan NFF, Hassan MN, Zulkafli Z

Malays J Pathol, 2019 Aug;41(2):185-189.
PMID: 31427554

INTRODUCTION: Acquired haemophilia A (AHA) is a rare acquired bleeding disorder caused by polyclonal immunoglobulin G autoantibodies against clotting factor VIII (FVIII). The incidence was reported to be rare occurring in 0.2- 4 cases/million/year. Patients may present with different clinical manifestations to various specialties. Early recognition of the disease contributes to favourable clinical outcome.
CASE SERIES: Here, we reported five cases of this disorder with different clinical presentations from two tertiary hospitals in Kelantan state, Malaysia within a two year-period. Most of them were elderly, except for one who presented at the age of 36 years old. No direct or secondary cause was identified except for one patient who had developed from pregnancy-related at 3 weeks postpartum. These patients presented with spontaneous bleeding typically into skin, muscles, and mucous membranes but also at rare site in the epidural space. All patients denied previous history of bleeding or family history of bleeding disorder. FVIII activities were recorded between <1% to 19%, while the inhibitor titre levels were between 3.9 BU to 340 BU. The treatment approaches especially at presentation were complicated by unfamiliarity of managing this rare condition but all these patients received appropriate medical attention.
DISCUSSION: Prompt diagnosis and management in the right hand are critical. Awareness of this disorder by medical personnel at all levels in the community and in various specialties is important.
Molecular Detection of Glycophorins A and B Variant Phenotypes and their Clinical Relevance

Hassan SN, Thirumulu Ponnuraj K, Mohamad S, Hassan R, Wan Ab Rahman WS

Transfus Med Rev, 2019 04;33(2):118-124.
PMID: 30910255 DOI: 10.1016/j.tmrv.2019.02.003

Crossover or conversion between the homologous regions of glycophorin A (GYPA) and glycophorin B (GYPB) gives rise to several different hybrid glycophorin genes encoding a number of different glycophorin variant phenotypes which bear low prevalence antigens in the MNS blood group system. GP.Mur is the main glycophorin variant phenotype which causes hemolytic transfusion reaction (HTR) and hemolytic disease of the fetus and newborn (HDFN) in East and Southeast Asians. The detection of glycophorin variant phenotypes using serological methods is limited to phenotyping reagents that are not commercially available. Moreover, the red blood cells used for antibody identification are usually of the GP.Mur phenotype. The current Polymerase Chain Reaction (PCR)-based methods and loop-mediated isothermal amplification (LAMP) are available alternatives to phenotyping that allow for the specific detection of glycophorin variant phenotypes. This review highlights the molecular detection method for glycophorins A and B variant phenotypes and their clinical relevance.
Seroprevalence of Toxoplasmosis among Hemato-oncology patients in Kelantan

Kholib-Jati AK, Wan-Ahmad WMA, Mohamad S, Wan-Mahmood WH, Husin A, Wan-Ab-Rahman WS

Trop Biomed, 2020 Mar 01;37(1):218-226.
PMID: 33612733

Toxoplasmosis is a zoonotic disease caused by Toxoplasma gondii that is prevalent in humans and animals. This study was aimed to determine the seroprevalence of T. gondii infection among hemato-oncology patients and its association with sociodemographic and behavioural characteristics. This cross-sectional study was conducted at the Hospital Universiti Sains Malaysia (USM) involving 56 blood samples from hemato-oncology patients. Anti-T. gondii IgG and IgM antibodies and IgG avidity were determined using enzyme-linked immunosorbent assays (ELISA). The association of T. gondii exposure, sociodemographic, and behavioural characteristics were assessed by a questionnaire and face-to-face interviews. Twenty-eight (50%) patients were seropositive for T. gondii antibodies, where 27 (48.21%) patients were IgG+/IgM- and one patient (1.79%) was IgG+/IgM+ with high avidity index, indicating infection of more than 20 weeks. A univariate analysis showed that age, gender, ethnicity, marital status, educational level, employment status, stem cell transplant, blood transfusion, close contact with cats, water supply, and consumption of undercooked meat were not significantly associated with Toxoplasma seropositivity (p < 0.05). Our study has demonstrated, for the first time, the serological evidence of T. gondii exposure among hemato-oncology patients in Hospital USM. Our findings indicated that latent toxoplasmosis was relatively prevalence among our patients. Therefore, serological screening tests should be considered for immunocompromised patients as well as the implementation of health education programmes to encourage a healthy lifestyle and the consumption of healthy food among them.
Fulltext Molecular Detection of Alpha Thalassemia: A Review of Prevalent Techniques

Vijian D, Wan Ab Rahman WS, Ponnuraj KT, Zulkafli Z, Mohd Noor NH

Medeni Med J, 2021;36(3):257-269.
PMID: 34915685 DOI: 10.5222/MMJ.2021.14603

Alpha thalassemia (α-thalassemia) is an autosomal recessive disorder due to the reduction or absence of α globin chain production. Laboratory diagnosis of α-thalassemia requires molecular analysis for the confirmatory diagnosis. A screening test, comprising complete blood count, blood smear and hemoglobin quantification by high performance liquid chromatography and capillary electrophoresis, may not possibly detect all the thalassemia diseases. This review focused on the molecular techniques used to detect α-thalassemia, and the advantages and disadvantages of each technique were highlighted. Multiplex gap-polymerase chain reaction, single-tube multiplex polymerase chain reaction, multiplex ligation-dependent probe amplification, and loop-mediated isothermal amplification were used to detect common deletion of α-thalassemia. Furthermore, the reverse dot blot analysis and a single tube multiplex polymerase chain reaction could detect non-deletion mutation of the α-globin gene. Sanger sequencing is widely used to detect non-deletion mutations of α-thalassemia. Recently, next-generation sequencing was introduced in the diagnosis of both deletion and point mutations of α-thalassemia. Despite the advantages and disadvantages of different techniques, the routine method employed in the laboratory should be based on the facility, expertise, available equipment, and economic conditions.
Fulltext Familial antithrombin III deficiency in a Malay patient with massive thrombosis

Wan Ab Rahman WS, Abdullah WZ, Hassan MN, Hussin A, Zulkafli Z, Haron J

Malays J Pathol, 2017 Aug;39(2):197-200.
PMID: 28866705 MyJurnal

Patients with low antithrombin III (AT III) has increased risk for arteriovenous thromboembolic (TE) disease. We report a 28-year-old Malay lady who presented with spontaneous right calf pain and swelling of one week duration. She was on oral contraceptive pills and had a history of travelling for a long distance prior to the presentation. Her brother who was diagnosed with AT III deficiency had arterial thrombosis at a young age. She was diagnosed as having right popliteal vein thrombosis by ultrasound and treated with subcutaneous fondaparinux. While on treatment, she developed massive bilateral pulmonary embolism (PE). Thrombophilia study showed reduced AT III activity (38μl/dl) and normal results for protein C, protein S, activated protein C resistance and lupus anticoagulant assays. This patient has heterozygous AT III deficiency added with significant acquired factors responsible for the TE events. Those with AT III deficiency may have resistance to heparin therapy and require higher doses of heparin.
Prevalence of GP. Mur variant phenotype among Malaysian blood donors

Hassan SN, Mohamad S, Kannan TP, Hassan R, Wei S, Wan Ab Rahman WS

Asian J Transfus Sci, 2023;17(2):169-174.
PMID: 38274953 DOI: 10.4103/ajts.ajts_125_21

BACKGROUND AND OBJECTIVE: A number of glycophorin variant phenotypes or hybrid glycophorin variants of the MNS blood group system bear multiple immunogenic antigens such as Mia, Mur, and MUT. In the East and Southeast Asian populations, glycoprotein (GP.) Mur is the most common glycophorin variant phenotype expressing those three immunogens. The aim of this study was to detect MNS system glycophorin variant phenotypes (GP. Mur, GP. Hop, GP. Bun, GP. HF, and GP. Hut) among Malaysian blood donors.
MATERIALS AND METHODS: In this cross-sectional study, 144 blood donors were selected under stratified random sampling. The deoxyribonucleic acid was extracted from whole blood samples, followed by a polymerase chain reaction assay. Sanger sequencing was used to identify the specific MNS variants and then validated by a serological crossmatch with known anti-Mur and anti-MUT.
RESULTS: GP. Mur was identified among Malaysian blood donors with a prevalence of 6.94%, and no other variants of the MNS system were found.
CONCLUSION: The present study substantiates that GP. Mur is the main variant of the MNS system glycophorin (B-A-B) hybrid in Malaysian blood donors. GP. Mur-negative red blood cells must therefore be considered in the current transfusion policy in order to prevent alloimmunization and immune-mediated transfusion reactions, particularly in transfusion-dependent patients.
Fulltext The Identification of Potential Drugs for Dengue Hemorrhagic Fever: Network-Based Drug Reprofiling Study

Kochuthakidiyel Suresh P, Sekar G, Mallady K, Wan Ab Rahman WS, Shima Shahidan WN, Venkatesan G

JMIR Bioinform Biotechnol, 2023 May 09;4:e37306.
PMID: 38935956 DOI: 10.2196/37306

BACKGROUND: Dengue fever can progress to dengue hemorrhagic fever (DHF), a more serious and occasionally fatal form of the disease. Indicators of serious disease arise about the time the fever begins to reduce (typically 3 to 7 days following symptom onset). There are currently no effective antivirals available. Drug repurposing is an emerging drug discovery process for rapidly developing effective DHF therapies. Through network pharmacology modeling, several US Food and Drug Administration (FDA)-approved medications have already been researched for various viral outbreaks.
OBJECTIVE: We aimed to identify potentially repurposable drugs for DHF among existing FDA-approved drugs for viral attacks, symptoms of viral fevers, and DHF.
METHODS: Using target identification databases (GeneCards and DrugBank), we identified human-DHF virus interacting genes and drug targets against these genes. We determined hub genes and potential drugs with a network-based analysis. We performed functional enrichment and network analyses to identify pathways, protein-protein interactions, tissues where the gene expression was high, and disease-gene associations.
RESULTS: Analyzing virus-host interactions and therapeutic targets in the human genome network revealed 45 repurposable medicines. Hub network analysis of host-virus-drug associations suggested that aspirin, captopril, and rilonacept might efficiently treat DHF. Gene enrichment analysis supported these findings. According to a Mayo Clinic report, using aspirin in the treatment of dengue fever may increase the risk of bleeding complications, but several studies from around the world suggest that thrombosis is associated with DHF. The human interactome contains the genes prostaglandin-endoperoxide synthase 2 (PTGS2), angiotensin converting enzyme (ACE), and coagulation factor II, thrombin (F2), which have been documented to have a role in the pathogenesis of disease progression in DHF, and our analysis of most of the drugs targeting these genes showed that the hub gene module (human-virus-drug) was highly enriched in tissues associated with the immune system (P=7.29 × 10-24) and human umbilical vein endothelial cells (P=1.83 × 10-20); this group of tissues acts as an anticoagulant barrier between the vessel walls and blood. Kegg analysis showed an association with genes linked to cancer (P=1.13 × 10-14) and the advanced glycation end products-receptor for advanced glycation end products signaling pathway in diabetic complications (P=3.52 × 10-14), which indicates that DHF patients with diabetes and cancer are at risk of higher pathogenicity. Thus, gene-targeting medications may play a significant part in limiting or worsening the condition of DHF patients.
CONCLUSIONS: Aspirin is not usually prescribed for dengue fever because of bleeding complications, but it has been reported that using aspirin in lower doses is beneficial in the management of diseases with thrombosis. Drug repurposing is an emerging field in which clinical validation and dosage identification are required before the drug is prescribed. Further retrospective and collaborative international trials are essential for understanding the pathogenesis of this condition.
Fulltext Extreme Thrombocytosis in a Child: Laboratory Approaches and Diagnostic Challenges

Zulkafli Z, Janaveloo T, Wan Ab Rahman WS, Hassan MN, Abdullah WZ

Oman Med J, 2019 Jul;34(4):336-340.
PMID: 31360323 DOI: 10.5001/omj.2019.65

Thrombocytosis in children as well as in adult is defined as platelet count ≥ 450 × 109/L, and it is usually a reactive feature to various medical disorders. However, extreme thrombocytosis (platelet count ≥ 1000 × 109/L) is an uncommon finding among pediatric and adult patients, which may indicate more than a reactive phenomenon. We describe a case of a five-year-old boy who was admitted due to recurrent epistaxis. He had no history of allergic tendency or trauma. Physical examination was unremarkable except for shotty neck nodes. Laboratory results at presentation showed normal hemoglobin and total leukocyte count with eosinophilia (0.92 × 109/L), and extreme thrombocytosis. Other relevant investigations including coagulation profile, serum ferritin, liver, and renal function tests were all within normal ranges. Stool samples for ova and cysts were negative. The peripheral blood smear and bone marrow aspirate confirmed thrombocytosis with increased megakaryocytic proliferation and no artefactual reasons for the high platelets such as red blood cell fragments. Different causes of thrombocytosis in childhood were investigated after considering the possible differential diagnoses for extreme thrombocytosis.
Sagittal sinus thrombosis in a patient with familial Protein C deficiency: Highlighting the impact of thrombophilia testing

Wan Ab Rahman WS, Abdullah WZ, Hassan MN, Ahmed S, Zulkafli Z, Wan Ahmed WA, et al.

Malays J Pathol, 2021 Dec;43(3):449-452.
PMID: 34958066

Plasma protein-C is a natural anticoagulant that inactivates factors Va and VIIIa. Familial protein C deficiency is inherited as an autosomal dominant disorder. The homozygous or compound heterozygous type may present early as purpura fulminant, while the heterozygous type can present as thromboembolism later in life. Presented in this report is a case of a 21-year-old female patient with protein-C deficiency, confirmed by thrombophilia investigations. She experienced recurrent deep vein thrombosis and cerebral sinus thrombosis due to thrombotic occlusion. She had a family history of deep vein thrombosis. Hence, high-risk cases should be seriously considered for long term anticoagulation therapy. The utility versus futility of thrombophilia testing in a particular situation is discussed to address and ensure safe practice among patients with thromboembolism.
Fulltext Gene Mutation Spectrum among Alpha-Thalassaemia Patients in Northeast Peninsular Malaysia

Vijian D, Wan Ab Rahman WS, Ponnuraj KT, Zulkafli Z, Bahar R, Yasin N, et al.

Diagnostics (Basel), 2023 Feb 27;13(5).
PMID: 36900038 DOI: 10.3390/diagnostics13050894

(1) Background: Alpha (α)-thalassaemia is a genetic disorder that affects 5% of the world population. Deletional or nondeletional mutations of one or both HBA1 and HBA2 on chromosome 16 will result in reduced production of α-globin chains, a component of haemoglobin (Hb) that is required for the formation of red blood cells (RBCs). This study aimed to determine the prevalence, haematological and molecular characterisations of α-thalassaemia. (2) Method: The parameters were based on full blood count, high-performance liquid chromatography and capillary electrophoresis. The molecular analysis involved gap-polymerase chain reaction (PCR), multiplex amplification refractory mutation system-PCR, multiplex ligation-dependent probe amplification and Sanger sequencing. (3) Results: With a total cohort of 131 patients, the prevalence of α-thalassaemia was 48.9%, leaving the remaining 51.1% with potentially undetected α gene mutations. The following genotypes were detected: -α3.7/αα (15.4%), -α4.2/αα (3.7%), --SEA/αα (7.4%), αCSα/αα (10.3%), αAdanaα/αα (0.7%), αQuong Szeα/αα (1.5%), -α3.7/-α3.7 (0.7%), αCSα/αCSα (0.7%), -α4.2/αCSα (0.7%), -SEA/αCSα (1.5%), -SEA/αQuong Szeα (0.7%), -α3.7/αAdanaα (0.7%), --SEA/-α3.7 (2.2%) and αCSα/αAdanaα (0.7%). Indicators such as Hb (p = 0.022), mean corpuscular volume (p = 0.009), mean corpuscular haemoglobin (p = 0.017), RBC (p = 0.038) and haematocrit (p = 0.058) showed significant changes among patients with deletional mutations, but not between patients with nondeletional mutations. (4) Conclusions: A wide range of haematological parameters was observed among patients, including those with the same genotype. Thus, a combination of molecular technologies and haematological parameters is necessary for the accurate detection of α-globin chain mutations.
A rare case of compound heterozygous Southeast Asian double α-globin gene deletion and Haemoglobin Quong Sze in a Malay proband

Vijian D, Wan Ab Rahman WS, Kannan TP, Zulkafli Z, Mohd Noor NH, Bahar R, et al.

Malays J Pathol, 2024 Aug;46(2):321-324.
PMID: 39207010

INTRODUCTION: Haemoglobin (Hb) Quong Sze is a non-deletional α-thalassaemia subtype that occurs due to missense mutation at codon 125 of the HBA2 gene. Interaction between Hb QS with Southeast Asian double α-globin gene deletion results in non-deletional HbH disease, which is more severe than deletional HbH.
CASE REPORT: A 3-month-old baby boy was presented with neonatal anaemia and mild hepatomegaly. Full blood count revealed severe hypochromic microcytic anaemia. There was an abundance of HbH inclusion bodies in his red blood cells. High-performance liquid chromatography showed a reduced HbA2 level with the presence of pre-run peak. Capillary electrophoresis showed the presence of HbH and Hb Barts. Molecular analysis found a common α0-thalassaemia (--SEA) in one allele and mutation in codon 125 in the other allele.
DISCUSSION: Non-deletional HbH disease due to a combination of deletional and non-deletional mutations may present with severe clinical manifestations than those with deletion mutations, which warrants accurate diagnosis using molecular techniques.
Fulltext Blood Transfusion Knowledge among Nurses in Malaysia: A University Hospital Experience

Mohd Noor NH, Saad NH, Khan M, Hassan MN, Ramli M, Bahar R, et al.

Int J Environ Res Public Health, 2021 10 25;18(21).
PMID: 34769712 DOI: 10.3390/ijerph182111194

Blood transfusion is a fundamental and life-saving procedure where the consequence of errors can be fatal. Nurses' knowledge plays an essential role in ensuring quality and safety in blood transfusion. The objective of this study was to assess blood transfusion-associated knowledge of tertiary hospital nurses on the east coast of Malaysia. This was a cross-sectional study with 200 registered nurses involved in blood transfusion procedures at Hospital Universiti Sains Malaysia. The knowledge of the nurses was evaluated by using the routine blood transfusion knowledge questionnaire based on five parts, and <50%, 50-74%, or ≥75% of the knowledge was considered as poor, moderate, or high, respectively. Based on the scoring system, the overall knowledge of blood transfusion among Malaysian nurses (33.2 ± 8.4 years) was estimated to be 54.9 ± 7.6%. In individual items, the scoring was 81.0%, 45.4%, 49.2%, 63.0%, and 90.0% in knowledge prior to blood transfusion, on pre-transfusion, on post-transfusion, on complications, and on transfusion policy, respectively. The findings of this study indicated that most of the nurses' overall knowledge of blood transfusion was at a moderate level; therefore, training courses and continuous medical education are warranted to improve knowledge and skills of the nurses to ensure good practices of blood transfusion.
Acute hemolytic transfusion reaction following ABO-mismatched platelet transfusion: Two case reports

Zulkeflee RH, Hassan MN, Hassan R, Saidin NIS, Zulkafli Z, Ramli M, et al.

Transfus Apher Sci, 2023 Jun;62(3):103658.
PMID: 36805153 DOI: 10.1016/j.transci.2023.103658

Acute hemolytic transfusion reaction following ABO-incompatible platelet transfusion: two case reports An ideal platelet transfusion should provide ABO identical platelet concentrate, and cross match compatibility is not routinely performed in the standard practices. However, ABO non identical platelet transfusions are not uncommon with the limited resources and short shelf life of platelet concentrate. Though rare, acute hemolytic transfusion reaction (AHTR) may occur following minor ABO-incompatible platelet transfusion. Here, we report two cases of thrombocytopenic patients (one child and one adult) type as Group B RhD positive and received Group O RhD positive platelet transfusions. Both patients experienced an AHTR evidenced by a drop in hemoglobin level, spherocytosis and small agglutinations on the blood film, and positive direct Coombs test. They were treated symptomatically, recovered and discharged well post-event without any morbidity. No anti-B isohemagglutinins titer were done to confirm the high titer of the antibody in the platelet donors. Our cases highlighted the importance of ABO-compatible platelet transfusion, especially to children and those vigilant groups of patients.
Fulltext Significance of Zone 2 Peak on Capillary Electrophoresis in the Detection of Hemoglobin Constant Spring

Ramli M, Nik Mohd Hasan NFF, Ramli M, Wan Ab Rahman WS, Hassan MN, Mohd Noor NH, et al.

Oman Med J, 2023 May;38(3):e507.
PMID: 37351377 DOI: 10.5001/omj.2023.78

OBJECTIVES: Hemoglobin constant spring (Hb CS) is a point mutational defect associated with α thalassemia. The aims of this study were to compare the hematological profiles between different Hb CS genotypes and to estimate the range for Zone 2 peak using capillary electrophoresis (CE) with different Hb CS genotypes.
METHODS: For this cross-sectional study, patient blood samples that showed a positive peak in zone 2 of CE were selected. Hemoglobin and DNA of the samples were investigated to ascertain the presence and levels of non-deletional and deletional α thalassemia. The results were statistically analyzed.
RESULTS: Of the 137 samples investigated, 118 (86.1%) were positive for termination codon Hb CS mutation. Heterozygous Hb CS was found in 92 (67.2%), compound heterozygous Hb CS in 22 (16.1%), and homozygous Hb CS in four (2.9%) samples. The ranges of Hb CS level for heterozygous Hb CS, compound heterozygous Hb CS, and homozygous Hb CS were within 0.2-2.7%, 0.3-2.2%, and 4.5-5.5%, respectively. Significant hematological differences in the Hb level, mean cell volume, mean cell hemoglobin, red cell distribution width, red blood cell count, and Hb CS level were observed between heterozygous, homozygous, and compound heterozygous Hb CS.
CONCLUSIONS: In view of the overlapping prevalence range of Hb CS level for heterozygous and compound heterozygous Hb CS, only Hb CS level within the range 4.5-5.5% was helpful in the diagnosis of homozygous Hb CS.
Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975-2022)

Habib Dzulkarnain SM, Hashim IF, Zainudeen ZT, Taib F, Mohamad N, Nasir A, et al.

J Clin Immunol, 2023 Oct;43(7):1623-1639.
PMID: 37328647 DOI: 10.1007/s10875-023-01532-5

Purine nucleoside phosphorylase deficient severe combined immunodeficiency (PNP SCID) is one of the rare autosomal recessive primary immunodeficiency disease, and the data on epidemiology and outcome are limited. We report the successful management of a child with PNP SCID and present a systematic literature review of published case reports, case series, and cohort studies on PNP SCID listed in PubMed, Web of Science, and Scopus from 1975 until March 2022. Forty-one articles were included from the 2432 articles retrieved and included 100 PNP SCID patients worldwide. Most patients presented with recurrent infections, hypogammaglobulinaemia, autoimmune manifestations, and neurological deficits. There were six reported cases of associated malignancies, mainly lymphomas. Twenty-two patients had undergone allogeneic hematopoietic stem cell transplantation with full donor chimerism seen mainly in those receiving matched sibling donors and/or conditioning chemotherapy before the transplant. This research provides a contemporary, comprehensive overview on clinical manifestations, epidemiology, genotype mutations, and transplant outcome of PNP SCID. These data highlight the importance of screening for PNP SCID in cases presented with recurrent infections, hypogammaglobulinaemia, and neurological deficits.
Fulltext Coagulation Status Using Clot Wave Analysis in Patients With Prolonged Immobilization

Iberahim S, Muhamat Yusoff R, Mohd Noor NH, Hassan R, Ramli NN, Bahar R, et al.

Cureus, 2024 Jan;16(1):e51483.
PMID: 38304638 DOI: 10.7759/cureus.51483

Background Prolonged immobilization is widely recognized as a risk factor for thromboembolism. In this prospective study, we investigated the changes in clot waveform analysis (CWA) parameters in prolonged immobilized patients following lower limb trauma. CWA is an advanced method for assessing global coagulation that involves continuously monitoring changes in light transmittance, absorbance, or light scattering during routine clotting tests. Additionally, we also aim to determine the CWA parameters between day one and after day three of immobilization. Methods A total of 30 patients with prolonged immobilization were enrolled in this study. The plasma of these patients was collected on the first day of their admission and subsequently obtained again after day three of immobilization. Prothrombin time (PT)-based CWA and activated partial thromboplastin time (aPTT)-based CWA were performed using the ACL TOP 300 CTS (Werfen: Bedford, USA) coagulation analyzer, which utilizes the optical method for clot detection. Plasma samples for 20 normal controls were recruited from a healthy blood donor. The CWA parameters generated during clot formation were analyzed. For the comparison of CWA parameters between patients with prolonged immobilization and healthy controls, the Mann-Whitney test was used. A paired t-test was used for the comparison of clot wave parameters between day one and after day three of immobilization. This study was approved by the Universiti Sains Malaysia Research Ethics Committee. Result The mean values of PT and aPTT in healthy controls were 11.66 seconds and 33.98 seconds, respectively. There was no statistically significant difference between the patients and the healthy controls in the median values of aPTT (P=0.935). However, patients with prolonged immobilization exhibited significantly higher median PT CWA parameter values than controls (P=0.007). These parameters included the delta change (P<0.001), peak time velocity (P=0.008), and height velocity (P<0.001). On the other hand, the delta change (P<0.001) and height velocity (P<0.001) of the aPTT CWA parameters were significantly higher in patients with prolonged immobilization than in controls. In patients with prolonged immobilization, there was no significant difference in PT CWA parameters between day one and after day three of immobilization, while for aPTT CWA, all parameters were higher on day three, except for the endpoint time. Conclusion Patients with prolonged immobilization exhibit increased PT and aPTT CWA parameters compared to normal controls. CWA parameters could aid in identifying patients at risk of developing thrombosis through changes in the clot waveform. However, further study is needed to fully utilize additional information from routine coagulation testing.

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