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Dyskeratosis congenita (DKC), also known as Zinsser–Cole–Engman syndrome, is a telomeropathy typically presenting as a triad of leukoplakia, nail dystrophy, and reticular hyperpigmentation. Reported genetic mutations linked to DKC include DKC1, TINF2, TERC, TERT, C16orf57, NOLA2, NOLA3, WRAP53/TCAB1, and RTEL1. Homozygous, compound heterozygous, and heterozygous mutations in RTEL1 (RTEL1, regulator of telomere elongation helicase 1) gene on chromosome 20q13 are known to cause autosomal dominant as well as recessive DKC. Pathogenic variants of RTEL1 gene in DKC patients include c.2288G>T (p. Gly763Val), c.3791G>A (p. Arg1264His), and RTEL p. Arg981Trp. We report a novel homozygous variant of RTEL1, transcript ID: ENST00000360203.11, exon 24, c.2060C>T (p.Ala687Val), in a patient of DKC presenting with leukoplakia, dystrophic nails, reticulate pigmentation, and positive family history of a similar phenotype. The novel variant, reported as a variant of uncertain significance, may therefore be considered diagnostic for DKC in a Pakistani population. [ABSTRACT FROM AUTHOR]

Background: Coronavirus disease 2019 (COVID-19) is a multisystem disorder and haematological abnormalities are frequently documented in affected patients. Methods: This retrospective study included 549 patients hospitalized with COVID-19 from 1st June to 15th July 2020 at Pak Emirates hospital, Rawalpindi Pakistan. p<0.05 was considered statistically significant. Results: Median age was 60 years (range 12–94 years), males 442 (80.5%) and females 107 (19.5%). There was no patient with mild illness, 181 (32.9%) had moderate, 158 (28.7%) severe and 210 (38.2%) patients had critical disease. Patients with severe and critical disease had lower absolute lymphocyte count (ALC) and platelets (p<0.001 for both) while higher white blood cell count (WBC), neutrophil lymphocyte ratio (NLR), C-reactive protein (CRP), interleukin-6 (IL-6) and lactate dehydrogenase levels (LDH) levels (all p<0.001). Overall survival of study cohort was 83.2% (n=457). Median haemoglobin and platelet count were significantly lower (p<0.001) while WBC, ANC, NLR, prothrombin time (PT), activated partial thromboplastin time (APTT), ferritin, IL-6, LDH were significantly higher (p<0.001) for patients who died. On multivariate logistic regression analysis WBC count>10x109/l (odds ratio [OR] 2.19 [95% CI 1.3–4.2] p=0.01), NLR>9 (OR 3.4 [95% CI 0.87–6.8], p<0.001), platelets<150x109/l (OR 3.9 [95% CI 1.4–9.8] p<0.001), CRP >100; (OR 4.1[95% CI 0.78–10.9] p<0.001) and ferritin >1000 (OR 5.3 [95% CI 1.9– 13.5], p<0.001) were associated with increased risk of death in patients with COVID-19. Conclusion: Monitoring of haematological, coagulation and inflammatory parameters provide reliable, convenient, rapid and cost-effective method for predicting disease severity, complications and prognosis of COVID-19 patients. [ABSTRACT FROM AUTHOR]

Corona virus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome corona virus 2 (SARSCoV2) and has currently affected 11 million people worldwide with 0.53 million deaths. While there is ongoing trials and research for newer therapeutic options including antivirals (remdesivir), anti-interleukin 6 (tocilizumab), vaccines and antimalarials; there is renewed interest in the use of old therapeutic tools as well. Convalescent plasma has been used historically for measles, poliomyelitis, Spanish flu pandemic, severe acute respiratory syndrome (SARS1) and Ebola epidemics with conflicting results. With widespread use of convalescent plasma throughout the world as investigational drug for COVID-19, it is important to review past experience with its use in various outbreaks, potential role in COVID-19, and clinical application during current pandemic and challenges faced by resource constrained countries. [ABSTRACT FROM AUTHOR]

Fanconi anemia (FA) is a rare, genetically and phenotypically heterogeneous autosomal recessive disorder. It is characterized by various congenital malformations, progressive bone marrow failure usually at a very young age and of tumor development. The mean age of diagnosis was 7 years and the average life expectancy was 25 years. We report a rare case of fanconi anemia presenting as a solid tumor of buccal cavity and found to be metastasizing on staging at an unusually late age i.e. 52 years. [ABSTRACT FROM AUTHOR]