eLetters

340 e-Letters

  • Friedreich ataxia diagnosis

    Dear Madam/Sir,
    We read with great interest the article by Vidhale and colleagues.1 They provide a detailed description of a man presenting with a relatively rapidly progressing neurodegenerative disease including his neuroimaging findings.

    After testing for a few DNA repeat expansion diseases, the authors arrived at the conclusion that their patient’s diagnosis was Friedreich ataxia (FRDA). FRDA is a recessive neurodegenerative disease caused by bi-allelic expansion of an intronic GAA repeat in the frataxin (FXN) gene. Their patient had 5 and 37 GAA repeats. The lower limit for full penetrance alleles is > 66 GAA repeats.2 Thus, it is not apparent how their patient meets diagnostic criteria for FRDA.

    The 37 GAA repeat allele falls at the lower end of premutation alleles (range 34-65), so named as these alleles do not cause disease, but can rarely expand to the disease range during meiosis. In rare cases, somatic expansion of pre-mutations in cell populations has been postulated to cause disease, but this occurs only in the setting of the 2nd allele in the clear pathogenic range of expansion.

    The authors alternatively postulate that the patient could represent a compound heterozygous state based on his clinical presentation. Comparison with cases of very late-onset FRDA (vLOFA), however, clearly shows that the patient’s course is too rapid and severe for vLOFA. Even if the patient were to carry a pathogenic point mutation in one of the allel...

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  • Tasers and Heart Block

    Dear Editor,

    A taser is a weapon used by police in order to provide a safe means of subduing an uncooperative person via an “electric shock”. This handheld device features two small barbed darts designed to puncture the skin. These darts are connected via copper wires to a main unit which delivers an electric current to the individual causing neuromuscular incapacitation by disrupting the voluntary control of muscles(1). A number of studies have raised concern over the health risks of tasers, including ventricular arrhythmias and cardiac arrest(2). Something I have come across during my training was a case of complete heart block provoked by a taser discharge. This phenomenon is not frequently described in the literature.

    The patient in question had cardiac arrest immediately after receiving a discharge from a taser during an altercation with police. Thankfully, he was given bystander CPR and had return of spontaneous circulation after 3 minutes. On presentation to the Emergency Department the patient was found to be in complete heart block. He was admitted acutely to the coronary care unit for monitoring and had a permanent pacemaker inserted three days later.

    The taser is considered a non-lethal weapon but can it truly be considered such?

    Since it is not thought of as a firearm, taser use is not regulated by the Bureau of Alcohol, Tobacco, Firearms and Explosives. The main objective of this article is not to comment on the propriety of taser...

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  • Update

    Active TB globally affects over 10 million people each year and accounts for approximately 1.6 million deaths. Since publishing this case report we since have learned that IGRA blood tests are not entirely useful in diagnosing active TB, as IGRA will also pick up cases of latent TB.
    Presently, the most useful microbiological method of diagnosis is now widely recognised as the Gene Xpert or Gene Xpert MTB/RIF Ultra, a rapid molecular test for Mycobacterium tuberculosis and rifampicin resistance which can be performed on sputum, pleural fluid or CSF. Access to this technology has been widely scaled up in recent years as part of the WHO End TB Strategy and most countries are switching from traditional AFB smears to rapid molecular testing due to reduced costs and demand on laboratory facilities. However, the COVID-19 pandemic has also redirected human, diagnostic and financial resources elsewhere and modelling predicts a regression in TB control and increase in mortality from 13% in 2020 to 20% in 2025.

  • Author's response to e-letter "Therapeutic strategy of Malignant glioma and the fetal-maternal wellbeing”

    Thank you very much for your letter on our published case report of a pregnant woman that was diagnosed with a left parietal glioma in the 28th gestational week after a first generalised seizure, and for your opinion and thorough review of the literature.

    In our patient we performed a two-stage approach with first a tumour resection under general anaesthesia and preservation of the pregnancy and after caesarean section performed in the 37th gestational week an awake craniotomy for resection of residual tumour under neuropsychological monitoring and mapping.

    We decided to do a two-stage approach after a round table where obstetricians, neurosurgeons, anesthetists, neonatologists, and midwives were involved and after several long conversations with the patient and her husband. For the patient clearly the health of her unborn child was the most important aspect of her treatment and therefore she wanted to prolong the pregnancy until term. The tumor of our patient was located with a broad base to the surface and seemed to have a plane to the underlying white matter. There was no, in this location possible eloquent, unaffected cortex overlying the tumor. Moreover, our patient was already in the 28th gestational week of her pregnancy, the uterine fundus was high and the abdomen extended. The use of cortical or subcortical electric stimulation does increase the seizure risk1-4. Because of all these reasons we decided aga...

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  • Do emerging SARS-CoV-2 variants cause early and greater immunosuppression which may contribute to co-infection with mucormycosis?

    Dear Editor,
    This case report presents a very important accompaniment of COVID-19 illness which has currently raised up to epidemic scale in India (1). There is sound empirical evidence that unsupervised use of steroids, uncontrolled blood sugar and existing immunosuppression in COVID-19 may predispose the patients to the opportunistic mucormycosis infection (2,3). Surprisingly, co-infection with mucormycosis were rarely reported during the first wave in India, although the pandemic had spread extensively in the country. There is a possibility that sudden and massive increase in the number of cases and consequently collapsing of the health system in the country may have contributed in the rise of mucormycosis cases in various ways, including multiple iatrogenic causes, such as no proper sterilization of the medical equipment and the hospital wards. Wearing unclean face masks carrying fungal spores and other unhygienic practices might have also contributed in rise of the cases (4). However, no significant reporting of mucormycosis cases during the first wave of COVID-19 pandemic poses some valid questions, whether the newer SARS-CoV-2 variants, particularly that of B.1.617 lineage which are being suggested as the driver of the second wave in India (5), are causing greater and/or early immunosuppression than the wild strain. Emerging evidence suggest that the new SARS-CoV-2 strains, including that of B.1.617 lineage, may have increased virulence (6,7). Although, certai...

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  • Professor

    Do emerging SARS-CoV-2 variants cause early and greater immunosuppression which may contribute to co-infection with mucormycosis?

    Dear Editor,
    This case report presents a very important accompaniment of COVID-19 illness which has currently raised up to epidemic scale in India (1). There is sound empirical evidence that unsupervised use of steroids, uncontrolled blood sugar and existing immunosuppression in COVID-19 may predispose the patients to the opportunistic mucormycosis infection (2,3). Surprisingly, co-infection with mucormycosis were rarely reported during the first wave in India, although the pandemic had spread extensively in the country. There is a possibility that sudden and massive increase in the number of cases and consequently collapsing of the health system in the country may have contributed in the rise of mucormycosis cases in various ways, including multiple iatrogenic causes, such as no proper sterilization of the medical equipment and the hospital wards. Wearing unclean face masks carrying fungal spores and other unhygienic practices might have also contributed in rise of the cases (4). However, no significant reporting of mucormycosis cases during the first wave of COVID-19 pandemic poses some valid questions, whether the newer SARS-CoV-2 variants, particularly that of B.1.617 lineage which are being suggested as the driver of the second wave in India (5), are causing greater and/or early immunosuppression than the wild strain. Emerging...

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  • Rate of incidence...

    The data that is represented in footnote 21 (rate of 6 in 42,000 vs. the rate of .08 - 1.1 in 100,000) is significant. It represents approximately a 1 in 7,000 rate! I think that this is worth highlighting in a separate article.

  • Mucormycosis in covid 19 patients in India is in raise in second wave of covid 19 pandemic

    Dear Editor,
    Mucormycosis is a fatal fungal infections that mainly affects people who are on medications for other health problems that reduces their ability to fight for environmental pathogens.India is a known to have high burden of mucormycosis cases especially in those with unconrolled type 2DM and prevalence of mucormycosis has gone this time up to 2.1times to 3 times during covid 19 pandemic in India. This may be termed as Covid Associated Mucormycosis or CAM.Prvalance of CAM amongst the covid-19 patients is 0.27/%,and in ICU or in CCU is 1.6% when they are treated with steroid and to those in patients who had high level of blood sugar due to covid- 19 or have high level of ferritin.Occasionally in patients with unconrolled DM ( whose neutrophils functions is impaired in diabetic and those who have neutropenia or altered NL ratio as in covid 19 , as primary defence of mucormycosis is done with neutrophils attached with hyphae ) or in hematlogical malignancies, or in hemopoietic stem cells transplant or in solid organ transplant or in patient's with vercanzole therapy or with immunomodulatory drugs or other immunosuppressive drugs develop fatal mucormycosis.
    In covid 19 wards or in SARI wards mucormycosis may develop due to 1) That NL ratio is altered 2) from treatment of steroid dexamethasone injection 3) use of tocilizumab therapy 4) uses of Immunomodulatory drugs like Baricitinib ,tofacitinib and usually found in later part of treatment ....

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  • Incidence of mucormycosis is in raise in India due to covid-19 in second wave of2021

    Dear Editor,
    Mucormycosis is a fatal fungal infections that mainly affects people who are on medications for other health problems that reduces their ability to fight for environmental pathogens.India is a known to have high burden of mucormycosis cases especially in those with un controlled type 2DM and prevalence of mucormycosis has gone this time up to 2.1times to 3 times during second wave of covid 19 pandemic in India. This may be termed as Covid Associated Mucormycosis or CAM.Prvalance of CAM amongst the covid-19 patients is 0.27/%,and in ICU or in CCU is 1.6% when they are treated with steroid and to those in patients who had high level of blood sugar due to covid- 19 or have high level of ferritin.Occasionally in patients with unconrolled DM ( whose neutrophils functions is impaired in diabetic and those who have neutropenia or altered NL ratio as in covid 19 , as primary defence of mucormycosis is done with neutrophils attached with hyphae ) or in hematlogical malignancies, or in hemopoietic stem cells transplant or in solid organ transplant or in patient's with vercanzole therapy or with immunomodulatory drugs or other immunosuppressive drugs develop fatal mucormycosis.
    In covid 19 wards or in SARI wards mucormycosis may develop due to 1) That NL ratio is altered 2) from treatment of steroid dexamethasone injection 3) use of tocilizumab therapy 4) uses of Immunomodulatory drugs like Baricitinib ,tofacitinib and usually found in later pa...

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  • Response from authors

    The association between heart failure and energy drink consumption is based on the entire clinical course rather than the presentation alone. The patient remains in renal failure with renal biochemistry similar to presentation and has not received renal replacement therapy for some time. Despite this, the patient is no longer in heart failure with a significant improvement in cardiac function occurring prior to the introduction of heart failure medications - carvedilol, hydralazine and isosorbide dinitrite. The clinical course of spontaneous recovery was similar to the cited case report from Belzile and colleagues and hence our reason for bringing this to attention and contributing to greater awareness. We welcome the comments and debate as there is no test to confirm the relationship to energy drink intake and therefore extensive clinical characterisation is required to exclude alternative causes of severe heart failure. Severe heart failure which improves spontaneously to this magnitude - LVEF 9% to 51% is particularly rare.

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