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1.
Ann Med Surg (Lond) ; 85(4): 908-912, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37113909

RESUMO

Dengue fever (DF) is an arthropod-borne viral infection caused by four serotypes of dengue virus (DENV 1-4) transmitted to the host by the vector mosquito Aedes, which causes fever, vomiting, headache, joint pain, muscle pain, and a distinctive itching and skin rash, ultimately leading to dengue hemorrhagic fever and dengue shock syndrome. The first case of DF in Pakistan was documented in 1994, but outbreak patterns began in 2005. As of 20 August 2022, Pakistan has 875 confirmed cases, raising alarming concerns. Misdiagnosis due to mutual symptoms, lack of an effective vaccine, the weakened and overburdened health system of Pakistan, irrational urbanization, climate change in Pakistan, insufficient waste management system, and a lack of awareness are the significant challenges Pakistan faces and result in recurrent dengue outbreaks every year. The recent flood in Pakistan has caused massive destruction, and stagnant dirty water has facilitated mosquito breeding. Sanitization and spraying, proper waste management, an adequate and advanced diagnostic system, control of population size, public awareness, and promotion of medical research and global collaboration, especially amidst flood devastation, are recommended to combat this deadly infection in Pakistan. This article aims to comprehensively review the year-round DF in Pakistan, highlighting the surge amidst ongoing flood havoc and the coronavirus disease 2019 pandemic.

2.
Ann Med Surg (Lond) ; 84: 104918, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36582856

RESUMO

Introduction: Thalassemia is a genetically complex disorder that evolves from a mutation in the beta chain of hemoglobin. Much work has been done on the common mutations, but some rare mutations have been found that impact and diversify the disease spectrum. Case presentation: Our case report is on a young adult who presented with anemia, gall stones, and off-and-on transfusion dependency. A detailed workup revealed that the patient was suffering from thalassemia intermedia. The interesting finding was that the patient, product of non-consanguineous marriage was homozygous for beta thalassemia mutation on genetic analysis. A detailed genetic analysis of the parents revealed them as carriers for the same mutation. It was found that patient was homozygous for a rare and novel mutation -88(C > A)[HBB:c.-138C  >  A] on whole gene sequencing. Discussion: The area of genomics in thalassemia is rapidly growing, and our case report aims to update the current knowledge of thalassemia's genomic information in Pakistan. The mutation found in our patient was -88(C > A)[HBB:c.-138C  >  A], and the data provided by the National Library of Medicine for this mutation as Allele ID: 380597 and variant type of single nucleotide variant shows that only ten such cases exist in the world with this rare mutation. Our case would be the 11th case in the world and 1st in Pakistan according to the literature, reporting above mentioned mutation. Conclusion: Further translational study is required to accurately utilize genomic data as an instrument of precision treatment in thalassemia patients, especially in underdeveloped countries like Pakistan.

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