scholarly journals Screening for thalassaemia among group of students of a higher institution – our experience

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Norlelawati AT ◽  
Siti Hadijah M ◽  
Siti Nor Haiza H ◽  
Rusmawati I ◽  
Salman MS ◽  
...  

Introduction: Thalassaemia is an inherited blood disorder and is a significant public health alarm in Malaysia with many not knowing they are carriers of this haemoglobin disorders.  Materials and methods: This study conducted a one off collection of blood samples from 72 Malays students of International Islamic University Malaysia (IIUM) in Kuantan.  Blood samples were subjected to conventional haemoglobin analyses that include full blood count and picture, HPLC, Haemoglobin electrophoresis and H-inclusion test. All samples were also genotyped for alpha thalassaemia–1 of Southeast Asia (a-Thal1SEA).  Result: There were 17(23.6%) students who were diagnosed as thalassaemia carriers.  Out of this, four (5.5 %) and six (8.3 %) students were presumptive β-thalassaemia trait and Haemoglobin-E trait as determined by the HPLC assay respectively.  Nine (12.5%) students were genotyped a-Thal1SEA among whom two were also β-thalassaemia carriers.  All thalassaemia cases had MCH of < 27pg.  Nonetheless, two out of six Haemoglobin-E trait and three out of nine a-Thal1SEA carrier had MCV value of >80fL. Two out of four (50%) presumptive β -thalassaemia trait and one out of six (17%) students of presumptive Haemoglobin-E trait had family history of thalassaemia respectively. Conclusion: The high occurrence of the three common types of thalassaemia carrier (β, Hb-E and a-Thal1SEA thalassaemia) in our small group of subjects could be due to better participation of students who had family history of thalassaemia.  The study reaffirmed the importance of molecular study for detection of alpha-thalassaemia and the use of MCH value of <27pg rather than MCV value of < 80fL for prediction of thalassaemia.

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Rosemary Waller ◽  
Elizabeth Price ◽  
Sara Carty ◽  
Azeem Ahmed ◽  
David Collins

Abstract Case report - Introduction We present what we believe to be the first reported case of post COVID-19 reactive arthritis, in a previously medically well 16-year-old with no past or family history of inflammatory arthritis. Case report - Case description Our patient was a previously medically fit 16-year-old of Caucasian origin who tested positive for COVID-19 in late March 2020. She developed with a 4-day illness with fever, cough, and myalgia from which she made a full and uncomplicated recovery. Ten days later she developed a new erythematous itchy rash on her legs, trunk, and face and a progressive polyarthralgia affecting her MCPs, wrists, shoulders, hips, and knees. The rash typically lasted for 2 days at one site and was non-scarring. This was associated with a low-grade fever. There were no associated mouth ulcers, photosensitivity, alopecia, Raynaud’s, GI disturbance or respiratory symptoms. She had no relevant family history of autoimmunity, psoriasis or inflammatory bowel disease or travel history and had been prescribed no new medications. On examination, she had an erythematous rash on the face in a non malar distribution. She had multiple tender joints without definite synovitis. Cardiovascular, respiratory, gastroenterology and neurological examinations were unremarkable. Investigations revealed a normal full blood count and CRP&lt;1 with normal liver and renal function tests. Her urinalysis was unremarkable. Immunology was negative for ANA, ANCA and rheumatoid factor. Immunoglobulins were normal. Two weeks later her symptoms were fully resolved. Case report - Discussion Coronaviruses are single-stranded RNA viruses with nearly 30 strains recognised to infect humans. They induce both an innate and adaptive immune system response. It is hypothesised that a dysregulated innate system response, leading to a prolonged adaptive response triggers damaging inflammation and a potential cytokine storm. This is associated with poor outcome during primary viral infection. Variations in this immune response, with different underlying HLA genotypes could lead to other post infectious immune mediated phenomena, such as Paediatric Multisystem Inflammatory Syndrome - Temporally associated with COVID-19. There is a European registry collating data about patients with known rheumatic diseases who are admitted with COVID-19. There is emerging data regarding Paediatric Inflammatory Multisystem Syndrome - Temporally associated with SARS-CoV-2 (PIMS-TS). There is a growing suggestion that a subgroup of patients is developing a COVID-19 associated post viral fatigue syndrome. We suggest that a registry to collect information on de novo autoimmune diseases presenting post COVID-19 is also commenced. Case report - Key learning points COVID-19 infection is associated with a wide variety of sequalae, including rheumatological ones. Classic post viral Reactive arthritis has been seen. A registry to collect information on de novo autoimmune presentations would be highly informative.


2020 ◽  
Vol 51 (4) ◽  
pp. 1212-1219
Author(s):  
Mikaeel & Al-Saeed

This study was aimed to demonstrate the seroprevalence and molecular detection of Toxoplasma gondii among ewes and horses as well as to determine the risk factors for infection in Duhok province. Sera and blood samples from 700 ewes and 62 horses were collected. Sera were examined by indirect ELISA for detection of anti-T. gondii IgM antibodies and in molecular study, DNA was extracted, then by PCR, B1 gene was amplified and the product visualized and sent off for sequencing. Serologically, the prevalence of toxoplasmosis was 17.7 (11/62) and 28.9 (202/700) in horses and ewes by ELISA respectively. Present of cats on the farm was significantly associated with T. gondii infected ewes in the farm. While, Age, number of abortion and history of abortion has no role in infection in ewes. On the other hand, age and sex have no role in prevalence of toxoplasmosis among the horses. Only 2 samples among 11 seropositive samples by ELISA were give positive results by PCR in rate 18.2% in horse, while in ewes 13 samples from 60 randomly selected seropositive by ELISA were found to be positive by PCR in rate 21.7%. Results of this study indicate that prevalence of T. gondii among ewes and horses was high and cats have a role in prevalence of infection among the ewes.


2020 ◽  
Vol 27 (08) ◽  
pp. 1669-1674
Author(s):  
Zahid Mahmood ◽  
Tariq Feroze Khawaja ◽  
Anjum Iqbal ◽  
Abdul Rashid Khan ◽  
Naveed Arshad

Objectives: To assess the clinical characteristics and diagnosis of ACS for timely, management and further prevention from coronary events. Study Design: Cross sectional study. Setting: Emergency Department (ED) of Punjab Institute of Cardiology (PIC) Lahore. Period: November 2017 to January 2018. Material & Methods: Included 170 diagnosed patients of ACS of both sexes presenting within approximately four hours of symptoms. At presentation ECG and initial blood samples were taken from all patients for base line and Troponin T estimation. All the patients included in the study were properly examined and complete history was taken. Blood samples of patients for diagnosis of NSTEMI were also drawn at 8hrs of arrival. The patients were categorized into STEMI, NSTEMI and UA on the basis of history, ECG and cardiac Troponin T. Results were analyzed statistically. A p-value ≤ 0.05 was considered statistically significant. Results: A total of 170 patients with established diagnosis of ACS were included. The mean age of the patients was 56 years. There was a very strong male predominance (81.76%). The major modifiable risk factors were hypertension (54.71%) and smoking (35.88%), followed by hyperlipidemia (35.29%) and diabetes (32.35%). A previous history of IHD in patients and family history of IHD were equally present (37.65%). A large proportion of patients belonged to middle class (54.12%) and lower (41.18%). Typical pain chest pain was present in 90% and majority of patients enrolled in this study had a diagnosis of myocardial infarction 77.05% and the remainder had unstable angina. We found a higher percentage of ST elevation MI in the patients with MI (84.73%), majority had anterior AMI. Of all patients, 1.77% expired during hospital stay. Conclusion: The majority of ACS patients in our country are male with STEMI. The major risk factors are hypertension, family history of IHD, smoking, hyperlipidemia and diabetes. 90% patients present with typical chest pain while remaining 10% atypical symptoms which must be of prime consideration to assess ACS.


Blood ◽  
1948 ◽  
Vol 3 (4) ◽  
pp. 431-437 ◽  
Author(s):  
J. M. STICKNEY ◽  
FRANK J. HECK

Abstract In our experience, in half of the cases of primary hemolytic anemia in which there is no family history of anemia, jaundice or splenomegaly, examination of the blood disclosed microspherocytic erythrocytes and increased fragility of erythrocytes. The results of splenectomy in these cases are better than in those in which microspherocytosis is absent. True macrocytosis was observed in only one instance. Females predominated in both groups of cases. Agglutinins and hemolysins have not appeared to play any significant role in the production of the hemolytic syndrome in our cases. We do not feel justified in expressing an opinion as to whether the microspherocytosis indicates a familial or congenital blood disorder. From a practical standpoint, it makes no great difference since splenectomy should be considered seriously in any case of chronic primary hemolytic anemia. It may be of value in some cases of secondary or symptomatic hemolytic anemia.


1982 ◽  
Vol 25 (4) ◽  
pp. 482-486 ◽  
Author(s):  
Robin A. Seider ◽  
Keith L. Gladstien ◽  
Kenneth K. Kidd

Time of language onset and frequencies of speech and language problems were examined in stutterers and their nonstuttering siblings. These families were grouped according to six characteristics of the index stutterer: sex, recovery or persistence of stuttering, and positive or negative family history of stuttering. Stutterers and their nonstuttering same-sex siblings were found to be distributed identically in early, average, and late categories of language onset. Comparisons of six subgroups of stutterers and their respective nonstuttering siblings showed no significant differences in the number of their reported articulation problems. Stutterers who were reported to be late talkers did not differ from their nonstuttering siblings in the frequency of their articulation problems, but these two groups had significantly higher frequencies of articulation problems than did stutterers who were early or average talkers and their siblings.


2001 ◽  
Vol 120 (5) ◽  
pp. A442-A442
Author(s):  
P TSIBOURIS ◽  
M HENDRICKSE ◽  
P ISAACS

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