METHODS: This is a prospective instrument correlation study done on 93 children aged 1-4 years of age with speech and language delay for at least 3 months. Hearing status was confirmed using otoacoustic emissions, pure tone audiometry and brainstem evoked response (BSER). Hearing status was then compared to the 14-point questionnaire final scores and is statistically correlated.
RESULTS: There were 26 patients, 15 males (58%) and 11(42%) females who were diagnosed to have hearing loss. The average age of presentation was 2.49 and conductive hearing loss accounted for about 74% of cases of hearing loss. The mean questionnaire score obtained through our patients was 3.83±1.987. Discriminant analysis suggests that a questionnaire score of above 4 was indicative that the child was suffering from hearing loss.
CONCLUSION: Our study suggests that the low-cost bilingual (Malay and English) questionnaire can be used to detect hearing loss in the Malaysian population and could potentially be useful in rural health centres to help detect hearing loss and to determine the urgency of referral to a tertiary health centre.
METHODS: We performed a systematic review in multiple databases (including PubMed, MEDLINE, EMBASE, and Scopus) from 1966 to May 18, 2019, to identify all case reports and case series describing patients with ankle pseudo aneurysm. This systematic review was performed in accordance with the Preferred Reporting Items for a Systematic Review and Meta-analysis (PRISMA). Our inclusion criteria included patients with ankle pseudo aneurysm of any age. We excluded reports in which the individual level data is not available. Patients demographic (gender, age), clinical characteristics (precipitating event, duration), diagnostic modality and treatment were recorded.
RESULT: There were in total 23 case reports identified on ankle pseudo aneurysm from 1966 until 2018. Among these twenty-three reports, 16 (70%) were male and seven (30%) patients were female. Age distribution showed higher number of reports among young adults, 15 patients (65%). Based on our systematic review trauma (48%), arthroscope (48%) and arthrodesis (4%) were the etiologies described in all these case reports. Ultrasound duplex and CT Angiogram has been used as a single modality in three reports each. In fifteen patients (65%) combination of imaging has been used for diagnosis. Anterior tibial artery is the most commonly injured vessel among the reported cases, comprised of 14 (61%) patients. Among these arthroscopes were the highest reported precipitating events, 9 (64%), followed by trauma in four patients (29%) and arthrodesis in one patient (7%). Treatment modalities described in all previous reports were excision and ligation, 10 (42%); excision of sac and primary repair, 4 (17%); excision of sac followed by reversed saphenous venous graft repair, 2 (8%); US guided compression, 2 (8%); US guided thrombin injection, 4 (17%); stenting, 1 (4%) and coiling, 1 (4%).
CONCLUSION: Ankle pseudoaneurysm is mostly preventable by detailed initial assessment following trauma or careful approach during arthroscope. Evolving diagnostic modality and treatment has shed some light into noninvasive management of pseudo aneurysm of ankle.
RESULTS AND DISCUSSION: Ninety-six haemophilia patients were identified - 79(82.3%) haemophilia A(HA) and 17(17.7%) haemophilia B(HB). Severe haemophilia patients were noted in 45.6% (36/79) of HA and 64.7% (11/17) of HB. In all 44.3% of the HA and 52.9% of the HB population had no identifiable family history of haemophilia. Two-thirds of the patients with severe HA were on prophylaxis [24/36 (66.7%)] and only onethird [4/11 (36.4%)] in severe HB. Inhibitors developed in 9/79 (11.4%) of the HA population [3/79 (3.8%) high responders]. The median inhibitor titre was not significantly different between the different treatment groups - on demand versus prophylaxis (1.0BU versus 2.0BU; z statistic -1.043, p-value 0.297, Mann-Whitney test). None of the patients developed inhibitory alloantibodies to factor IX. Four HA patients (5.1%) underwent immune tolerance induction where one case had a successful outcome. Three severe HA patients received emicizumab prophylaxis and showed remarkable reduction in bleeding events with no thromboembolic events being reported. One female moderate HA patient received PEGylated recombinant anti-haemophilic factor. Eleven patients underwent radiosynovectomy. One mild HB patient succumbed to traumatic intracranial bleeding. Our data reported a prevalence (per 100,000 males) of 5.40 cases for all severities of HA, 2.46 cases for severe HA; 1.16 cases for all severities of HB, and 0.75 cases for severe HB. The overall incidence of HA and HB was 1 in 11,500 and 1 in 46,000, respectively.
CONCLUSION: This study outlines the Sarawakian haemophilia landscape and offers objective standards for forward planning. Shared responsibilities among all parties are of utmost importance to improve the care of our haemophilia population.
MATERIALS AND METHODS: A two-arm prospective cohort study was conducted among adult patients with COVID-19 categories 2 and 3 treated with Paxlovid® and a matched control group. A standard risk-stratified scoring system was used to establish Paxlovid® eligibility. All patients who were prescribed Paxlovid® and took at least one dose of Paxlovid® were included in the study. The control patients were selected from a centralised COVID-19 patient registry and matched based on age, gender and COVID-19 stage severity.
RESULTS: A total of 552 subjects were included in the study and evenly allocated to the treatment and control groups. There was no statistically significant difference in 28-day hospitalisation after diagnosis [Paxlovid®: 26 (9.4%), Control: 34 (12.3%), OR: 0.74; 95%CI, 0.43-1.27; p=0.274] or all-cause death [Paxlovid®: 2 (0.7%), Control: 3 (1.1%), OR 1.51; 95%CI, 0.25-9.09; p=0.999]. There was no significant reduction in hospitalisation duration, intensive care unit admission events or supplementary oxygen requirement in the treatment arm. Ethnicity, COVID-19 severity at diagnosis, comorbidities and vaccination status were predictors of hospitalisation events.
CONCLUSION: In this two-arm study, Paxlovid® did not significantly lower the incidence of hospitalisation, all-cause death and the need for supplemental oxygen. Adverse effects were frequent but not severe. Paxlovid® efficacy varied across settings and populations, warranting further real-world investigations.
SUMMARY: Background Mutation of the growth factor-independent 1B (GFI1B) fifth DNA-binding zinc-finger domain causes macrothrombocytopenia and α-granule deficiency leading to clinical bleeding. The phenotypes associated with GFI1B variants disrupting non-DNA-binding zinc-fingers remain uncharacterized. Objectives To determine the functional and phenotypic consequences of GFI1B variants disrupting non-DNA-binding zinc-finger domains. Methods The GFI1B C168F variant and a novel GFI1B c.2520 + 1_2520 + 8delGTGGGCAC splice variant were identified in four unrelated families. Phenotypic features, DNA-binding properties and transcriptional effects were determined and compared with those in individuals with a GFI1B H294 fs mutation of the fifth DNA-binding zinc-finger. Patient-specific induced pluripotent stem cell (iPSC)-derived megakaryocytes were generated to facilitate disease modeling. Results The DNA-binding GFI1B variant C168F, which is predicted to disrupt the first non-DNA-binding zinc-finger domain, is associated with macrothrombocytopenia without α-granule deficiency or bleeding symptoms. A GFI1B splice variant, c.2520 + 1_2520 + 8delGTGGGCAC, which generates a short GFI1B isoform that lacks non-DNA-binding zinc-fingers 1 and 2, is associated with increased platelet CD34 expression only, without quantitative or morphologic platelet abnormalities. GFI1B represses the CD34 promoter, and this repression is attenuated by different GFI1B zinc-finger mutations, suggesting that deregulation of CD34 expression occurs at a direct transcriptional level. Patient-specific iPSC-derived megakaryocytes phenocopy these observations. Conclusions Disruption of GFI1B non-DNA-binding zinc-finger 1 is associated with mild to moderate thrombocytopenia without α-granule deficiency or bleeding symptomatology, indicating that the site of GFI1B mutation has important phenotypic implications. Platelet CD34 expression appears to be a common feature of perturbed GFI1B function, and may have diagnostic utility.