Haemophagocytic Lymphohistiocytosis in a Malay infant: Rare, Old and Often Forgotten Disease

Haemophagocytic lymphohistiocytosis (HLH) is a rare disease but potentially life threatening clinical syndrome. It is caused by a multisystemic hyperinflammatory process secondary to severe hypercytokinemia with excessive and uncontrolled activation of the immune response. We report a case of familial HLH with no apparent causes in 6 months-old Malay girl presented with recurrent fever associated with severe anaemia and bleeding tendency requiring extensive treatment but refractory to the treatment which lead to mortality due to neutropenic sepsis indicating of poor prognosis of this disease. This familial type of HLH should be suspected in all children after excluding all the secondary causes with collective laboratory features and requiring extensive management as it associated with high mortality. Bangladesh Journal of Medical Science Vol. 21(1) 2022 Page : 196-200

Haematological Profile in Microcytic Hypochromic Anaemia in Children

INTRODUCTION: The most common disorders presenting with microcytic hypochromic anaemia are iron deficiency anaemia (IDA) and β-Thalassemia trait (β-TT), and each of them has different pathogenesis and treatment modality. Here we intend to see the haematological profile in microcytic hypochromic anaemia in children apart from IDA and Thalassemia with respect to age and gender. MATERIAL AND METHODS: A total of 95 pediatric patients between the ages of 2 to 12 years with microcytic hypochromic anaemia were included in the study. Blood samples obtained from each patient were evaluated for various haematological and biochemical profiles along with haemoglobin electrophoresis. It was a hospital based observational cross-sectional study done for a period of 18 months from January 2019 to July 2020. RESULTS: Severe anaemia was seen in 55 (57.89%) cases, followed by 38 (40.00%) cases with moderate anaemia and 2 (2.11%) cases with mild anaemia. Majority of the cases showed IDA, which were 85 (89.5%) cases, followed by 6 (6.3%) cases with β-TT and 4 (4.2%) cases with β-TM. RBC count, hematocrit and RDW showed significant variation between IDA, β-TM and β-TT. Most number of correctly diagnosed cases were shown by Ricerca Index with 90 (94.74 %). CONCLUSION: Our study concludes RBC count and RDW, along with Srivasthava Index, Ricerca Index and RDW Index could be used as reliable indices to differentiate between iron deficiency anaemia and β-Thalassemia. Red cell indices, serum iron profile and haemoglobin electrophoresis complement each other for the precise diagnosis of underlying cause of microcytic hypochromic anaemia.

A cohort study of the relationship between anaemia, mean corpuscular volume and mortality among a CKD population in South Africa

Background: The burden of chronic kidney disease is increasing globally and prompt identification, coupled with improved management of CKD patients have increased the population of pre-dialysis patients. We, therefore, aimed to evaluate the predictors of survival among pre-dialysis CKD patients in South Africa. Methods: We conducted a cohort study of 256 consecutive consenting Black non-dialysis requiring CKD patients attending the renal outpatient clinic of a tertiary Hospital in South Africa from 1st June 2016 to 1st December 2016. Socio-demographic and clinical information of the participants were obtained. Descriptive statistics, Kaplan-Meier curves and Cox proportional hazard regression analyses were conducted to evaluate factors affecting the survival of the participants. Results: The mean age of the participants was 52.8±14.3 years and 48.0% were females, 52% were males. The death rate increased with worsening haemoglobin level from 0.96 among patients with mild anaemia to 4.29 per 100-person years among patients with severe anaemia. Anaemic patients with GFR < 30mls/min had significantly increased risk of death (HR 11.51, 95% CI 1.62–78.32, P < 0.001). Conclusion: Mortality in pre-dialysis CKD patients was associated with anaemia and hyperphosphatemia. Clinical interventions targeted at preventing these conditions may improve outcomes among this group of CKD patients. Keywords: Chronic kidney disease; mortality anaemia; outcomes, survival.

Assessment of the Effectiveness of Self-Instructional Module on Knowledge Regarding Home Care Management of Thalassemia Children among the Parents in A.V.B.R. Hospital, Wardha

Background of Study: Thalassemia is a genetic condition in which the production of globin chains is reduced or non-existent. Beta-thalassemia is caused by mutations in the beta-globin gene, which impede the formation of beta-globin chains. Based on clinical severity, beta thalassemia is categorised as follows. The most severe form of beta thalassemia is characterised by severe anaemia and the requirement for blood transfusions. Anaemia caused by beta thalassemia intermedia can be treated with medication or transfusions. Beta thalassemia minima- Also known as beta thalassemia trait, this type is typically asymptomatic. Children with beta-thalassemia major require regular blood transfusions, which can result in issues such as iron overload and the transfer of illnesses such as HIV, HCV, and HBsAg, all of which can shorten their life. Inadequate transfusions, on the other hand, result in severe anaemia as well as fatigue and debility. Objectives: To measure parents' existing knowledge of thalassemia children's home care management. To analyses the efficiency of a self-instructional module on thalassemia children's home care management expertise. To link the post-test knowledge score to the demographic factors chosen. Materials and Methods: A descriptive research design study was conducted to evaluate the efficiency of a self-instructional module on parental understanding of thalassemia children's home care management. The total number of samples in this study was 30. All of them were parents of thalassemia children from A.V.B.R. Hospital in Sawangi (Meghe), Wardha. The study employed a non-probability convenient sampling strategy, with the instrument being designed questionnaires on parental understanding of their children's medical conditions and knowledge of home care management of thalassemia. Based on the aims and hypothesis, the data was statistically analysed using various tests such as descriptive statistics and inferential statistics. Results: The purpose of this study was to determine the efficiency of a self-instructional module on parental understanding of thalassemia children's home care management. Following the installation of the seif-instructional module, 63.33 percent of Thalassemia parents had a poor level of knowledge and 36.67 percent had an average level of knowledge prior to the exam, according to analysis. The lowest knowledge score on the pre-test was 2 and the highest knowledge score was 7. The pre-test mean percentage of knowledge score was 33.559.17, and the pre-test mean knowledge score was 5.031.37. Post-test knowledge scores were average for 23.33 percent of Thalassemia parents and excellent for 76.67 percent of Thalassemia parents. The minimum post-test knowledge score was 8 and the maximum post-test knowledge score was 14. The mean post-test knowledge score was 11.901.84, and the mean percentage of knowledge score was 79.3312.29. Conclusion: The current study's pre-test results reveal that parents of thalassemia children had insufficient information about thalassemia home care management. Following the self-instructional module, it was a modest attempt to develop understanding of thalassemia home care management. Based on their pre-test scores, 19% of subjects had low knowledge, 11% had moderate knowledge, and 0% had strong knowledge, according to the findings. However, according to post-test results, 0% of subjects had low knowledge, 7% of subjects had average knowledge, and 23% of subjects had strong knowledge. As a result, the post-test knowledge score was statistically interpreted to be greater than the pre-test knowledge score.

A szerzett haemophilia A sikeres kezelése

Összefoglaló. A szerzett haemophilia A ritka autoimmun betegség, melyben gátlótest képződik a VIII. véralvadási faktor ellen. Az inhibitor véralvadásra gyakorolt hatása súlyos, életet veszélyeztető vérzéses állapotot idéz elő. A beteg élete a gyors diagnózison múlik: a jellemző klinikai kép mellett a megnyúlt, normálplazmával nem korrigálható aktivált parciális tromboplasztinidő megléte esetén a kórkép alapos gyanúja merül fel. Egy súlyos vérszegénység miatt kórházunkba beutalt nőbeteg esetében a szerzett haemophilia A a felvételt követő napon már diagnosztizálásra került. A vérzés megszüntetésére aktivált protrombinkomplex-koncentrátumot alkalmaztunk, valamint immunszuppresszív terápiát vezettünk be. A kórkép korai felismerése és a megfelelő kezelés azonnali megkezdése a beteg gyógyulását eredményezte. Esetünkkel arra szeretnénk felhívni a figyelmet, hogy a szerzett haemophilia A gyors diagnózisa egyszerű, könnyen hozzáférhető véralvadási paraméter, az aktivált parciális tromboplasztinidő meghatározásán és nem korrigálható megnyúlásának felismerésén múlik. Orv Hetil. 2021; 162(49): 1977–1981. Summary. Acquired haemophilia A is a rare autoimmune disorder, in which antibodies are formed against coagulation factor VIII. The effect of the inhibitor on blood clotting results in severe, life-threatening bleeding diathesis. The patient’s life depends on the rapid diagnosis: besides the characteristic clinical presentation, a prolonged activated partial thromboplastin time, which is not corrigible with normal plasma, suggests the existence of the disorder. In the case of the female patient who was referred to our hospital due to severe anaemia, acquired haemophilia A was diagnosed rapidly, the day after her admission. We used activated prothrombin complex concentrate to stop the bleeding, and introduced immunosuppressive therapy. The early recognition of the disease and immediate initiation of adequate treatment resulted in the patient’s full recovery. With our case presentation, we would like to draw attention to the fact that the rapid diagnosis of acquired haemophilia A depends on the determination of a simple, easily accessible coagulation parameter, the activated partial thromboplastin time and on the immediate recognition of its incorrigible prolongation. Orv Hetil. 2021; 162(49): 1977–1981.

P-EGS03 Curious Case of Life Threatening Gastrointestinal Bleed

Background Gastrointestinal stromal tumors are mesenchymal in origin, being derived from the interstitial cells of Cajal. These can be found anywhere in the gastrointestinal tract and are commonly found in the stomach followed by the small bowel. Gastrointestinal stromal tumors are usually asymptomatic and are often found incidentally. Chronic bleeding is one of the most common presentation. Gastrointestinal stromal tumors presenting with massive gastro intestinal haemorrhage and mimicking arteriovenous malformation on radiology are rare with only few cases reported. Methods Herein we present such a case of a 45-year-old gentleman with massive gastro intestinal bleeding. At presentation, patient was in congestive heart failure due to severe anaemia with a hemoglobin of 2.9g/dL. CECT Angiography localised the bleed to be from a jejunal mass lesion with radiological features consistent with those of arteriovenous malformation. Patient underwent laparoscopy assisted resection and anastomosis. Results Histopathology examination revealed a low risk jejunal gastrointestinal stromal tumor with no evidence of arteriovenous malformation. The mass was removed completely and the patient was discharged on 5th post-operative day. Patient was followed up in the out-patient department and was found to be doing well. Conclusions Gastrointestinal stromal tumors though relatively uncommon should be kept as important differentials for acute torrential gastrointestinal bleeding. It is highlighted that a presentation of gastrointestinal stromal tumors similar to that of arteriovenous malformations on cross sectional imaging should be kept in mind. The present case is reported in hope of expanding the knowledge of a rare occurrence, its aetiology, clinical impact and treatment.

Clinical recovery of Macaca fascicularis infected with Plasmodium knowlesi

Background Kra monkeys (Macaca fascicularis), a natural host of Plasmodium knowlesi, control parasitaemia caused by this parasite species and escape death without treatment. Knowledge of the disease progression and resilience in kra monkeys will aid the effective use of this species to study mechanisms of resilience to malaria. This longitudinal study aimed to define clinical, physiological and pathological changes in kra monkeys infected with P. knowlesi, which could explain their resilient phenotype. Methods Kra monkeys (n = 15, male, young adults) were infected intravenously with cryopreserved P. knowlesi sporozoites and the resulting parasitaemias were monitored daily. Complete blood counts, reticulocyte counts, blood chemistry and physiological telemetry data (n = 7) were acquired as described prior to infection to establish baseline values and then daily after inoculation for up to 50 days. Bone marrow aspirates, plasma samples, and 22 tissue samples were collected at specific time points to evaluate longitudinal clinical, physiological and pathological effects of P. knowlesi infections during acute and chronic infections. Results As expected, the kra monkeys controlled acute infections and remained with low-level, persistent parasitaemias without anti-malarial intervention. Unexpectedly, early in the infection, fevers developed, which ultimately returned to baseline, as well as mild to moderate thrombocytopenia, and moderate to severe anaemia. Mathematical modelling and the reticulocyte production index indicated that the anaemia was largely due to the removal of uninfected erythrocytes and not impaired production of erythrocytes. Mild tissue damage was observed, and tissue parasite load was associated with tissue damage even though parasite accumulation in the tissues was generally low. Conclusions Kra monkeys experimentally infected with P. knowlesi sporozoites presented with multiple clinical signs of malaria that varied in severity among individuals. Overall, the animals shared common mechanisms of resilience characterized by controlling parasitaemia 3–5 days after patency, and controlling fever, coupled with physiological and bone marrow responses to compensate for anaemia. Together, these responses likely minimized tissue damage while supporting the establishment of chronic infections, which may be important for transmission in natural endemic settings. These results provide new foundational insights into malaria pathogenesis and resilience in kra monkeys, which may improve understanding of human infections.