Giant aortic aneurysm is a rare clinical entity. They may present with typical features of chest pain or abdominal pain, or most feared complications with dissection and rupture. However, an asymptomatic and unruptured giant thoracic aneurysm is extremely rare with only two case reports in the literature.
I had a similar case which an 80-year-old lady admitted to a local district general hospital with a 5 day history of productive cough with shivers, which she was tested positive for COVID-19 on admission.
Diagnostic workup demonstrated an incidental finding of a giant TAAA. Her case was referred to a tertiary hospital for vascular Multidisciplinary Team (MDT) discussion and planning.
It was decided that for her to have pre-operative assessment and MDT discussion after her recovery from infection to have a definitive management of the TAAA. The patient is currently being managed supportively in hospital.
According to National Institute for Health and Care Excellence (NICE), asymptomatic and 5.5 cm or larger aneurysm should be considered for repair. The case should be discussed in terms of the overall balance of benefits and risks with repair and conservative management, based on the current status of health and the expected future health. In this case, it was deemed that the risk of proceeding with repair at present outweighed the benefits.
Incidental finding of a giant AAA/TAAA is rare. It emphasises the importance...
Giant aortic aneurysm is a rare clinical entity. They may present with typical features of chest pain or abdominal pain, or most feared complications with dissection and rupture. However, an asymptomatic and unruptured giant thoracic aneurysm is extremely rare with only two case reports in the literature.
I had a similar case which an 80-year-old lady admitted to a local district general hospital with a 5 day history of productive cough with shivers, which she was tested positive for COVID-19 on admission.
Diagnostic workup demonstrated an incidental finding of a giant TAAA. Her case was referred to a tertiary hospital for vascular Multidisciplinary Team (MDT) discussion and planning.
It was decided that for her to have pre-operative assessment and MDT discussion after her recovery from infection to have a definitive management of the TAAA. The patient is currently being managed supportively in hospital.
According to National Institute for Health and Care Excellence (NICE), asymptomatic and 5.5 cm or larger aneurysm should be considered for repair. The case should be discussed in terms of the overall balance of benefits and risks with repair and conservative management, based on the current status of health and the expected future health. In this case, it was deemed that the risk of proceeding with repair at present outweighed the benefits.
Incidental finding of a giant AAA/TAAA is rare. It emphasises the importance of MDT approach to direct and achieve appropriate management for a complex case. Care treatment prioritisation, surgical planning and full complement expertise are required in complex cases such as this.
Exogenous anabolic steroids are not a direct causative factor of glucocorticoid excess as stated by the authors. Although the phenotypes of injury (i.e., collagen infiltration, fibrosis, lowered ejection fraction via LVH) are similar as mentioned per Youssef et al. (2011), the primary evidence (reference #1; Delivanis et al., 2020) used to claim that glucocorticoid excess results from AAS does not mention exogenous androgen derivatives (AAS) anywhere in the entire Chapter 15. Let us not forget the AAS are androgens, not mineralocorticoids. Endogenous androgen increases (or excess) from pathological disorders were the only androgens mentioned in Delivanis et al. (2020) and the only citations (Delivanis et al., 2020; #189-191) in this primary cited evidence, in no manner, shape, or form, supports the inclusion of AAS to make an extrapolation that glucocorticoid resistance results from exogenous androgens (AAS) but only that glucocorticoid resistance can result from excess endogenous androgens due to various pathologies.
Using high-index value topics like anabolic-androgenic steroids to support a case report that does not involve AAS, seems to be more of either ignorance of the AAS literature or misinterpretation of endogenous androgen excess and exogenous androgen abuse.
The case does draw nice parallels between the phenotypes of injury (cortisol excess) and anabolic-androgenic steroid abuse, particularly activation of the RAAS. However, Youssef et al. (2011)...
Exogenous anabolic steroids are not a direct causative factor of glucocorticoid excess as stated by the authors. Although the phenotypes of injury (i.e., collagen infiltration, fibrosis, lowered ejection fraction via LVH) are similar as mentioned per Youssef et al. (2011), the primary evidence (reference #1; Delivanis et al., 2020) used to claim that glucocorticoid excess results from AAS does not mention exogenous androgen derivatives (AAS) anywhere in the entire Chapter 15. Let us not forget the AAS are androgens, not mineralocorticoids. Endogenous androgen increases (or excess) from pathological disorders were the only androgens mentioned in Delivanis et al. (2020) and the only citations (Delivanis et al., 2020; #189-191) in this primary cited evidence, in no manner, shape, or form, supports the inclusion of AAS to make an extrapolation that glucocorticoid resistance results from exogenous androgens (AAS) but only that glucocorticoid resistance can result from excess endogenous androgens due to various pathologies.
Using high-index value topics like anabolic-androgenic steroids to support a case report that does not involve AAS, seems to be more of either ignorance of the AAS literature or misinterpretation of endogenous androgen excess and exogenous androgen abuse.
The case does draw nice parallels between the phenotypes of injury (cortisol excess) and anabolic-androgenic steroid abuse, particularly activation of the RAAS. However, Youssef et al. (2011) does not mention that AAS bind to “mineralocorticoid receptors on cardiac and skeletal
myocytes, causing hypertrophy via upregulation of the RAAS pathway, a pathway similar to cortisol,” but instead states verbatim “AAS bind to androgen receptors and may directly cause hypertrophy, via tissue upregulation of the renin angiotensin system.”
Delivanis, D. A. (2020) Chapter 15 - Advances in the Diagnosis and Medical Management
of Cushing’s Syndrome. Advances in Treatment and Management in Surgical
Endocrinology, 151–174.
189. Malchoff, C. D. & Malchoff, D. M. (2005). Glucocorticoid resistance and hypersensitivity. Endocrinol Metab Clin N Am, 34(2), 315e326.
190. Bronnegard, M., Werner, S., & Gustafsson, J. A. (1986). Primary cortisol resistance associated with a thermolabile glucocorticoid receptor in a patient with fatigue as the only symptom. J Clin Investig, 78(5), 1270e1278.
191. Lawson, E.A. et al. (2009). Adrenal glucocorticoid and androgen precursor dissociation in anorexia nervosa. J Clin Endocrinol Metab, 94(4),1367e1371.
Youssef, M. Y. Z., Alqallaf, A., & Abdella, N. (2011). Anabolic androgenic steroid-induced
cardiomyopathy, stroke and peripheral vascular disease. BMJ Case Rep, bcr1220103650.
To the authors:
We read with interest the article entitled “Sudden irreversible hearing loss post COVID-19”.1 In this article, the authors presented an unusual case of a 45 year-old gentleman with sudden-onset sensorineural hearing loss (SNHL) after COVID-19 infection and treatment. In their literature review, five other case reports were cited with hearing loss noted after COVID-19.2-6 The patient in the case report experienced a decrease in his left sided hearing 1 week after his intensive care unit stay for COVID-19 treatment. His initial hearing loss was evaluated at the bedside with a tuning fork examination showing negative Rinne’s test on the side of reported hearing loss, and Weber’s test lateralizing to the side opposite to his hearing loss, which is consistent with SNHL of the affected side. He then had a 7 day treatment course of 60mg oral Prednisone daily in addition to a series of intratympanic steroid injection. His hearing loss was documented with elevated hearing thresholds of 65, 75, 75, and 85 dB at 2, 3, 4, and 6 kHz.
As multiple countries across all continents are facing the effects of the pandemic, our understanding of the various immediate and long-term complications of COVID-19 is evolving. SNHL is one of these complications. The Coalition for Epidemic Preparedness Innovations (CEPI) has developed a Brighton Collaboration case definition of SNHL to be utilized in the evaluation of adverse events following immunization, which can also be...
To the authors:
We read with interest the article entitled “Sudden irreversible hearing loss post COVID-19”.1 In this article, the authors presented an unusual case of a 45 year-old gentleman with sudden-onset sensorineural hearing loss (SNHL) after COVID-19 infection and treatment. In their literature review, five other case reports were cited with hearing loss noted after COVID-19.2-6 The patient in the case report experienced a decrease in his left sided hearing 1 week after his intensive care unit stay for COVID-19 treatment. His initial hearing loss was evaluated at the bedside with a tuning fork examination showing negative Rinne’s test on the side of reported hearing loss, and Weber’s test lateralizing to the side opposite to his hearing loss, which is consistent with SNHL of the affected side. He then had a 7 day treatment course of 60mg oral Prednisone daily in addition to a series of intratympanic steroid injection. His hearing loss was documented with elevated hearing thresholds of 65, 75, 75, and 85 dB at 2, 3, 4, and 6 kHz.
As multiple countries across all continents are facing the effects of the pandemic, our understanding of the various immediate and long-term complications of COVID-19 is evolving. SNHL is one of these complications. The Coalition for Epidemic Preparedness Innovations (CEPI) has developed a Brighton Collaboration case definition of SNHL to be utilized in the evaluation of adverse events following immunization, which can also be used in the study of COVID-19 complications.7 The American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS), the National Institute of Deafness and Other Communication Disorders (NIDCD) and the American Speech-Language-Hearing Association (ASHA) endorse the definition of Sensorineural hearing loss (SNHL) as hearing loss of at least 30 decibels (dB) in three sequential frequencies in the standard pure tone audiogram. However, this definition is not universally utilized, and variations of the definition area used in various publications. The audiometry can be a limiting factor for a definitive diagnosis when adequate equipment and appropriately trained personnel are not available. The Brighton Collaboration case definition suggests the classification of SNHL cases in various levels of diagnostic certainty based on the availability and utilization of adequate diagnostic tools in addition to the clinical evaluation (see reference 7, Table 1). This case ascertainment and classification then allows for data comparability across hospitals, countries, and surveillance systems. In this case report, a level 1 of diagnostic certainty was achieved as the patient had a physical examination excluding a cause for conductive hearing loss (CHL) in addition to an audiometry result consistent with SNHL.
In light of this report, and in the context of the active development of COVID-19 vaccines, SNHL should be evaluated as an event of interest in post-infection complications and post-immunization safety assessments. The Brighton Collaboration provides a consensus case definition for the standardized assessment of SNHL. It is our hope that the use of a standard definition will facilitate data interpretation and promote the scientific understand of SNHL following COVID-19.
Reference
1. Koumpa FS, Forde CT, Manjaly JG. “Sudden irreversible hearing loss post COVID-19.” BMJ Case Rep. 2020 Oct 13;13(11):e238419.
2. Kilic O, Kalcioglu MT, Cag Y, et al. Could sudden sensorineural hearing loss be the sole manifestation of COVID-19? An investigation into SARS-COV-2 in the etiology of sudden sensorineural hearing loss. Int J Infect Dis 2020;97:208–11.
3. Degen C, Lenarz T, Willenborg K. Acute profound sensorineural hearing loss after COVID-19 pneumonia. Mayo Clin Proc 2020;95:1801–3.
4. Rhman SA, Wahid AA. COVID-19 and sudden sensorineural hearing loss: a case report. Otolaryngol Case Reports 2020;16:100198.
5. Mustafa MWM. Audiological profile of asymptomatic Covid-19 PCR-positive cases. Am J Otolaryngol 2020;41:102483.
6. Sriwijitalai W, Wiwanitkit V. Hearing loss and COVID-19: a note. Am J Otolaryngol 2020;41:102473.
7. Liu YC, Ibekwe T, Kelso JM, et al. Sensorineural hearing loss (SNHL) as an adverse event following immunization (AEFI): Case definition & guidelines for data collection, analysis, and presentation of immunization safety data. Vaccine. 2020;38(30):4717-4731. doi:10.1016/j.vaccine.2020.05.019
We read the article published by Jaikaran O. et al on ‘Portomesenteric thrombosis after robotic sleeve gastrectomy’ with great interest. The reported about a morbid obese patient having porto-mesentric thrombosis after robotic sleeve gastrectomy due to obesity and mutation in methylenetetrahydrofolate reductase (MTHFR) mutation. However, we have few factors to report on this aspect.
Firstly, MTHFR enzyme dysfunction leads to hyperhomocysteinemia which leads to hypercoagulation state. Yet, the magnitude of this state is affected via degree of enzyme deficiency/dysfunction which is dependent on presence of heterogeneous/ homogenous mutation in enzyme gene. So, the authors must assess for the presence of hyperhomocysteinemia along with assessment of mutation.[1,2] Also the genetic homogeneity of the mutation must be assessed as heterogeneous mutation will have less effect on blood homocysteine levels.[3]
Next, the importance of folic acid for management of thrombotic state due to hyperhomocysteinemia must be considered. The patient has undergone sleeve gastrectomy which may further aggravate her vitamin and micronutrient deficiency. The administration of folic acid (instead of aspirin) will decrease the blood homocysteine levels and reduce the risk of hypercoagulation.[4]
References:
1. Friso S, Girelli D, Trabetti E, Stranieri C, Olivieri O, Tinazzi E, Martinelli N, Faccini G, Pignatti PF, Corrocher R. A1298C methylenetetrahydrofolate reductase mu...
We read the article published by Jaikaran O. et al on ‘Portomesenteric thrombosis after robotic sleeve gastrectomy’ with great interest. The reported about a morbid obese patient having porto-mesentric thrombosis after robotic sleeve gastrectomy due to obesity and mutation in methylenetetrahydrofolate reductase (MTHFR) mutation. However, we have few factors to report on this aspect.
Firstly, MTHFR enzyme dysfunction leads to hyperhomocysteinemia which leads to hypercoagulation state. Yet, the magnitude of this state is affected via degree of enzyme deficiency/dysfunction which is dependent on presence of heterogeneous/ homogenous mutation in enzyme gene. So, the authors must assess for the presence of hyperhomocysteinemia along with assessment of mutation.[1,2] Also the genetic homogeneity of the mutation must be assessed as heterogeneous mutation will have less effect on blood homocysteine levels.[3]
Next, the importance of folic acid for management of thrombotic state due to hyperhomocysteinemia must be considered. The patient has undergone sleeve gastrectomy which may further aggravate her vitamin and micronutrient deficiency. The administration of folic acid (instead of aspirin) will decrease the blood homocysteine levels and reduce the risk of hypercoagulation.[4]
References:
1. Friso S, Girelli D, Trabetti E, Stranieri C, Olivieri O, Tinazzi E, Martinelli N, Faccini G, Pignatti PF, Corrocher R. A1298C methylenetetrahydrofolate reductase mutation and coronary artery disease: relationships with C677T polymorphism and homocysteine/folate metabolism. Clin Exp Med. 2002 May;2(1):7-12.
2. McQuillan BM, Beilby JP, Nidorf M, Thompson PL, Hung J. Hyperhomocysteinemia but not the C677T mutation of methylenetetrahydrofolate reductase is an independent risk determinant of carotid wall thickening. The Perth Carotid Ultrasound Disease Assessment Study (CUDAS). Circulation. 1999 May 11;99(18):2383-8.
3. Zetterberg H, Regland B, Palmér M, Ricksten A, Palmqvist L, Rymo L, Arvanitis DA, Spandidos DA, Blennow K. Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos. Eur J Hum Genet. 2002 Feb;10(2):113-8.
4. Serapinas D, Boreikaite E, Bartkeviciute A, Bandzeviciene R, Silkunas M, Bartkeviciene D. The importance of folate, vitamins B6 and B12 for the lowering of homocysteine concentrations for patients with recurrent pregnancy loss and MTHFR mutations. Reprod Toxicol. 2017 Sep;72:159-163.
Some more information will make the Case Presentation more Illuminating and Educative, such as:
1) What was Central Venous Pressure,
2) If patient was, presumably Conscious, Oriented, Able to take Food and Fluids by Mouth, could the Intravenous Administration of Fluids be avoided,
3) How did the Elevated Blood Pressure evolved during Hospitalization, either with or without Medications,
4) What was Patient's Diet and Fluid Intake Both Quantitative and Qualitative during the Hospitalization,
5) Whether the Patient took any Formal or Alternative Medicines or Home Remedies for Coryza he had Two Weeks before Episode of Shortness of Breath, that could have caused Autoimmune Hemolysis.
5) If the Patient's Blood Pressure before Present Illnesses was known and if he took any medications for it and any other conditions eg Bleeding per Rectum,
6) What were the instructions including those regarding medications diet and follow-up given to the Patient at the time of Discharge.
The Authors need to be complimented for seeing the patient through the crisis and The BMJ be thanked for bringing it up to the Readers.
Dear editor,
The case report of published in BMI Case Reports 2020 Oct 29;13(10):e236017 by Ong et al. further expanded the knowledge of cheiro-oral syndrome, an incomplete sensory disorder, in clinical practice. Regarding to the classification of cheiro-oral syndrome, authors cited for Satpute et al. (2013), who clearly described the vascular anatomy of thalamus relating to the clinical picture of sensory and other neurological deficits, including some incomplete sensory syndromes. Bogousslavsky et al. (1988) had reported similar results before. However, to my understanding, the four types of cheiro-oral syndrome was firstly suggested by Chen WH (2009).
1.Bogousslavsky J, Regli F, Uske A. Thalamic Infarcts: clinical syndromes, etiology, and prognosis. Neurology. 1988;38:837–848.
2.Chen WH. Cheiro-Oral Syndrome: A Clinical Analysis and Review of Literature. Yonsei Med J. 2009;50(6):777–783.
3.Satpute S, Bergquist J, Cole JW. Cheiro-Oral syndrome secondary to thalamic infarction: a case report and literature review. Neurologist 2013;19:22–5.
To the editor,
The authors of this article appear to be unaware that the cause of "EVALI" was identified almost a year ago. To quote Dr Ann Schuchat, Principal Deputy Director of CDC in December, 2019: "we can conclude that what I call the explosive outbreak of cases of EVALI can be attributed to exposure to THC-containing vaping products that also contained Vitamin E acetate." (1). This followed publication in NEJM of a study which noted that "Vitamin E acetate was identified in BAL fluid obtained from 48 of 51 case patients (94%) in 16 states but not in such fluid obtained from the healthy comparator group." It also noted that "47 of 50 (94%) had detectable tetrahydrocannabinol (THC) or its metabolites in BAL fluid or had reported vaping THC products." It is widely known that people who have become ill due to use of illicit products, such as THC vapes, do not always tell the truth about the illegal products they used. The NEJM study also reported that "9 of 11 patients who reported no use of THC-containing e-cigarette products in the 90 days before the onset of illness had detectable THC or its metabolites in their BAL fluid." These and numerous other studies have clarified that EVALI is caused by vaping THC products contaminated by vitamin E Acetate. Since the cause became clear in December 2019, identification of new cases of this disease dropped markedly, and in February 2020 CDC stopped reporting new cases. We...
To the editor,
The authors of this article appear to be unaware that the cause of "EVALI" was identified almost a year ago. To quote Dr Ann Schuchat, Principal Deputy Director of CDC in December, 2019: "we can conclude that what I call the explosive outbreak of cases of EVALI can be attributed to exposure to THC-containing vaping products that also contained Vitamin E acetate." (1). This followed publication in NEJM of a study which noted that "Vitamin E acetate was identified in BAL fluid obtained from 48 of 51 case patients (94%) in 16 states but not in such fluid obtained from the healthy comparator group." It also noted that "47 of 50 (94%) had detectable tetrahydrocannabinol (THC) or its metabolites in BAL fluid or had reported vaping THC products." It is widely known that people who have become ill due to use of illicit products, such as THC vapes, do not always tell the truth about the illegal products they used. The NEJM study also reported that "9 of 11 patients who reported no use of THC-containing e-cigarette products in the 90 days before the onset of illness had detectable THC or its metabolites in their BAL fluid." These and numerous other studies have clarified that EVALI is caused by vaping THC products contaminated by vitamin E Acetate. Since the cause became clear in December 2019, identification of new cases of this disease dropped markedly, and in February 2020 CDC stopped reporting new cases. We do a disservice to the public and to our patients by being imprecise about this. EVALI is not caused by nicotine e-cigarettes, just as the epidemic of lethal overdoses associated with addictive pain medication use is not caused by Ibuprofen. We are correct to call that the "opioid epidemic", rather than the "analgesic epidemic". A THC vape is not the same as a nicotine e-cigarette, just as Vicodin is not the same as Tylenol and a joint is not the same as a cigarette. Lets call this serious respiratory disease what it is: THC-Vaping Associated Lung Injury (THCVALI) caused by vaping THC products contaminated by vitamin E acetate. We should inform our at-risk patients and the public tha tit is dangerous to use THC vapes, from the United States that came from informal sources (i.e. not directly from a licensed dispensary or via a doctor's prescription), and we should not confuse our patients or professional colleagues by referring to this illness as if it is caused by nicotine e-cigarettes. It is not. We should therefore call it THCVALI..
(2) Blount BC et al, For the Lung Injury Response Laboratory Working Group. Vitamin E Acetate in Bronchoalveolar-Lavage Fluid Associated with EVALI. N Engl J Med 2020; 382:697-705 DOI: 10.1056/NEJMoa1916433
Dear Editor,
we found the case report of Banthia et al. extremely interesting. First of all, penile plexiform neurofibromas are quite infrequent. Secondly, the subject described did not have a former clinical diagnosis of neurofibromatosis type I prior to the identification of this tumor, which is even rarer. However, we take exception to the therapeutic approach chosen by the authors. In fact, the surgical treatment of deep and extended plexiform neurofibromas is generally unsatisfactory, since their complete resection is frequently unattainable, allowing the masses to grow back (1-2). A partial tumor debulking should be considered only in case of high-risk conditions, such as a urethral or ureteral compression or a bowel obstruction. Apart from these scenarios, a medical approach should always be preferred, at least as a first attempt.
Selumetinib, an inhibitor of MEK 1 and 2 kinase, has demonstrated to be effective in reducing the size of plexiform neurofibromas in pediatric patients (3-4). The drug is generally well tolerated and safe in the pediatric population. Only few patients failed to show a clinical response to the treatment and even fewer had to stop it due to the appearance of severe adverse events.
In a recent study, we reported a cohort of nine patients with inoperable plexiform neurofibromas treated with selumetinib (5). Eight of them showed a partial response to the drug, i.e. a reduction of the tumor size by more than 20%. Remarkably, on...
Dear Editor,
we found the case report of Banthia et al. extremely interesting. First of all, penile plexiform neurofibromas are quite infrequent. Secondly, the subject described did not have a former clinical diagnosis of neurofibromatosis type I prior to the identification of this tumor, which is even rarer. However, we take exception to the therapeutic approach chosen by the authors. In fact, the surgical treatment of deep and extended plexiform neurofibromas is generally unsatisfactory, since their complete resection is frequently unattainable, allowing the masses to grow back (1-2). A partial tumor debulking should be considered only in case of high-risk conditions, such as a urethral or ureteral compression or a bowel obstruction. Apart from these scenarios, a medical approach should always be preferred, at least as a first attempt.
Selumetinib, an inhibitor of MEK 1 and 2 kinase, has demonstrated to be effective in reducing the size of plexiform neurofibromas in pediatric patients (3-4). The drug is generally well tolerated and safe in the pediatric population. Only few patients failed to show a clinical response to the treatment and even fewer had to stop it due to the appearance of severe adverse events.
In a recent study, we reported a cohort of nine patients with inoperable plexiform neurofibromas treated with selumetinib (5). Eight of them showed a partial response to the drug, i.e. a reduction of the tumor size by more than 20%. Remarkably, one of them, a five-year-old boy, had a giant plexiform neurofibroma similar to the one described in this clinical case, extended from the abdomen to the pelvis and scrotum. The mass was causing abdominal and scrotal pain, so that the boy couldn’t even sit on a chair. The patient had originally been treated in another institution with a partial debulking procedure, but after twelve months the plexiform neurofibroma grew back to its original size. Furthermore, the surgical excision resulted in the necessity of placing a colostomy, which the boy still has and that will probably be impossible to remove in future, since the plexiform neurofibroma further grew around the distal colic stump. After two years of treatment with selumetinib, a radiological decrease of the mass by more than 20% was noticed, and the boy stopped complaining of abdominal and scrotal pain. Nowadays he’s 10 years old and in good clinical conditions.
In conclusion, we suggest that selumetinib should be preferred to a surgical approach in presence of an extended plexiform neurofibroma, due to the well-known risk or the tumor regrowth after surgery.
The authors describe a single patient who tested positive for SARS-Cov-2 and had sensorineural hearing loss.
In their article they mention that the annual incidence of sudden sensorineural hearing loss (SSNHL) is between 5 and 160 patients per 100,000.
The current population of the UK is 67.866.011 according to the latest data (https://www.worldometers.info/demographics/uk-demographics/, accessed 18th October 2020).
This therefore suggests that there will be between 3,393 and 108,585 patients presenting with SSNHL in the UK this year. Accepting that we have not completed the year we can expect around 80% of the above figures to represent the expected incidence so far i.e. somewhere between 2,714 and 86,868 patients experiencing SSNHL.
The estimated incidence of Covid in the UK population is 0.62%, or 1 in 160 people have so far had Covid.
Therefore, purely by statistics alone, the number of patients with both Covid and SSNHL should lie somewhere between 17 and 543.
Whilst the authors make no claim that in their presented case the Covid was directly responsible for the SSNHL it seems surprising that this article was published by the BMJ as it stands without the authors making any attempt to discern the true incidence of SSNHL in patients with Covid.
Dear Editor:
We read with great interest the case report published by De Silva and Winship1 in the September 2020 issue of this journal. They reported the medical history of a 52-year-old male patient who fulfilled the revised Chompret clinical criteria for Li-Fraumeni syndrome (LFS) and carried a germline CHEK2 mutation (NM_007194.4:c.1100del, p.Thr367fs). The authors highlighted the possible link between CHEK2 germline mutations and a Li-Fraumeni like syndrome phenotype.
The term Li-Fraumeni like syndrome (LFL) was introduced by Birch et al. in 1994 to describe LFS families who did not fulfill the classical LFS criteria, but carried a TP53 germline mutation.2,3 Nevertheless, germline mutations in TP53 gene may not detected in some families with clinical diagnosis of the syndrome. In 1999, Bells et al. reported a family who fulfilled classical LFS criteria and carried a CHEK2 pathogenic mutation, c.1100delC.4 At that time, the authors hypothesized for the first time that heterozygous CHEK2 mutations could be related to LFS phenotype. BRCA2 germline mutations were also described in TP53-negative LFS families.5
Most cancer predisposition syndromes have an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expressivity. Genetic and environmental modifiers play a role in intra and interfamilial heterogeneity.8 Environmental modifiers were not mentioned by De Silva and Winship, and should have been described in the c...
Dear Editor:
We read with great interest the case report published by De Silva and Winship1 in the September 2020 issue of this journal. They reported the medical history of a 52-year-old male patient who fulfilled the revised Chompret clinical criteria for Li-Fraumeni syndrome (LFS) and carried a germline CHEK2 mutation (NM_007194.4:c.1100del, p.Thr367fs). The authors highlighted the possible link between CHEK2 germline mutations and a Li-Fraumeni like syndrome phenotype.
The term Li-Fraumeni like syndrome (LFL) was introduced by Birch et al. in 1994 to describe LFS families who did not fulfill the classical LFS criteria, but carried a TP53 germline mutation.2,3 Nevertheless, germline mutations in TP53 gene may not detected in some families with clinical diagnosis of the syndrome. In 1999, Bells et al. reported a family who fulfilled classical LFS criteria and carried a CHEK2 pathogenic mutation, c.1100delC.4 At that time, the authors hypothesized for the first time that heterozygous CHEK2 mutations could be related to LFS phenotype. BRCA2 germline mutations were also described in TP53-negative LFS families.5
Most cancer predisposition syndromes have an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expressivity. Genetic and environmental modifiers play a role in intra and interfamilial heterogeneity.8 Environmental modifiers were not mentioned by De Silva and Winship, and should have been described in the case report. Inclusion of environmental risk factors 9 such as tabacco exposure, obesity, sun exposure, alcohol consumption, hypertension could be associated with a higher risk for the multiple primary cancers (clear cell renal cancer, low-grade urothelial tumor, cutaneous basal cell cancer). Furthermore, co-segregation analysis was not performed in affected family members. Her mother, who was diagnosed with a Non-Hodgkin lymphoma at age 47, and her sister, diagnosed with a breast cancer at age 26, were deceased. Nevertheless, her maternal aunt, who developed a pheochromocytoma at age 56 and breast cancer at age 66 was not tested for CHEK2 c.1100delC variant, despite being tested for BRCA1, BRCA2, VHL, MAX, RET, TMEM 127 and SDHx genes.
Differences in CHEK2 penetrance and clinical expressivity may be also modified by polygenic risk and family history (Cybulski et al., 2011; Gallangher et al., 2020). We agree with the authors that more studies are required to translate genetic testing clinical validity to clinical utility, mainly for moderate penetrance genes. Nevertheless, patients who have been diagnosed with LFS and who carry a germline mutation in TP53 gene should undergo high risk surveillance with whole body MRI and genetic testing of minors.6,7 The authors should make clear recommendations that we still don´t have enough data to consider CHEK2 as a causing gene for LFS. There aren´t any indications in this report or any further published data of a higher risk of childhood cancer in CHEK2 carries. Therefore, this information should be evaluated with caution in order to avoid scientific data extrapolation, such as CHEK2 genetic testing for asymptomatic minors, and iatrogenic interventions, such as bilateral mastectomy that is suggested in TP53 mutation carriers and not in CHEK2 mutation carriers (unless strong family history of bilateral breast cancer).
CHEK2 is a moderate penetrance gene that is part of the breast cancer predisposition genes´ family and predisposes also to a higher risk for colorectal cancer. Although patients may carry a higher risk to other cancers, the phenotype is clearly different from high penetrance TP53 carriers, which is the underlying cause of LFS. Cancer predisposition syndromes may share cancer risks, but management clearly differs in carriers of germline mutations in TP53 and CHEK2.
Dear Editor,
Giant aortic aneurysm is a rare clinical entity. They may present with typical features of chest pain or abdominal pain, or most feared complications with dissection and rupture. However, an asymptomatic and unruptured giant thoracic aneurysm is extremely rare with only two case reports in the literature.
I had a similar case which an 80-year-old lady admitted to a local district general hospital with a 5 day history of productive cough with shivers, which she was tested positive for COVID-19 on admission.
Diagnostic workup demonstrated an incidental finding of a giant TAAA. Her case was referred to a tertiary hospital for vascular Multidisciplinary Team (MDT) discussion and planning.
It was decided that for her to have pre-operative assessment and MDT discussion after her recovery from infection to have a definitive management of the TAAA. The patient is currently being managed supportively in hospital.
According to National Institute for Health and Care Excellence (NICE), asymptomatic and 5.5 cm or larger aneurysm should be considered for repair. The case should be discussed in terms of the overall balance of benefits and risks with repair and conservative management, based on the current status of health and the expected future health. In this case, it was deemed that the risk of proceeding with repair at present outweighed the benefits.
Incidental finding of a giant AAA/TAAA is rare. It emphasises the importance...
Show MoreExogenous anabolic steroids are not a direct causative factor of glucocorticoid excess as stated by the authors. Although the phenotypes of injury (i.e., collagen infiltration, fibrosis, lowered ejection fraction via LVH) are similar as mentioned per Youssef et al. (2011), the primary evidence (reference #1; Delivanis et al., 2020) used to claim that glucocorticoid excess results from AAS does not mention exogenous androgen derivatives (AAS) anywhere in the entire Chapter 15. Let us not forget the AAS are androgens, not mineralocorticoids. Endogenous androgen increases (or excess) from pathological disorders were the only androgens mentioned in Delivanis et al. (2020) and the only citations (Delivanis et al., 2020; #189-191) in this primary cited evidence, in no manner, shape, or form, supports the inclusion of AAS to make an extrapolation that glucocorticoid resistance results from exogenous androgens (AAS) but only that glucocorticoid resistance can result from excess endogenous androgens due to various pathologies.
Using high-index value topics like anabolic-androgenic steroids to support a case report that does not involve AAS, seems to be more of either ignorance of the AAS literature or misinterpretation of endogenous androgen excess and exogenous androgen abuse.
The case does draw nice parallels between the phenotypes of injury (cortisol excess) and anabolic-androgenic steroid abuse, particularly activation of the RAAS. However, Youssef et al. (2011)...
Show MoreTo the authors:
Show MoreWe read with interest the article entitled “Sudden irreversible hearing loss post COVID-19”.1 In this article, the authors presented an unusual case of a 45 year-old gentleman with sudden-onset sensorineural hearing loss (SNHL) after COVID-19 infection and treatment. In their literature review, five other case reports were cited with hearing loss noted after COVID-19.2-6 The patient in the case report experienced a decrease in his left sided hearing 1 week after his intensive care unit stay for COVID-19 treatment. His initial hearing loss was evaluated at the bedside with a tuning fork examination showing negative Rinne’s test on the side of reported hearing loss, and Weber’s test lateralizing to the side opposite to his hearing loss, which is consistent with SNHL of the affected side. He then had a 7 day treatment course of 60mg oral Prednisone daily in addition to a series of intratympanic steroid injection. His hearing loss was documented with elevated hearing thresholds of 65, 75, 75, and 85 dB at 2, 3, 4, and 6 kHz.
As multiple countries across all continents are facing the effects of the pandemic, our understanding of the various immediate and long-term complications of COVID-19 is evolving. SNHL is one of these complications. The Coalition for Epidemic Preparedness Innovations (CEPI) has developed a Brighton Collaboration case definition of SNHL to be utilized in the evaluation of adverse events following immunization, which can also be...
We read the article published by Jaikaran O. et al on ‘Portomesenteric thrombosis after robotic sleeve gastrectomy’ with great interest. The reported about a morbid obese patient having porto-mesentric thrombosis after robotic sleeve gastrectomy due to obesity and mutation in methylenetetrahydrofolate reductase (MTHFR) mutation. However, we have few factors to report on this aspect.
Firstly, MTHFR enzyme dysfunction leads to hyperhomocysteinemia which leads to hypercoagulation state. Yet, the magnitude of this state is affected via degree of enzyme deficiency/dysfunction which is dependent on presence of heterogeneous/ homogenous mutation in enzyme gene. So, the authors must assess for the presence of hyperhomocysteinemia along with assessment of mutation.[1,2] Also the genetic homogeneity of the mutation must be assessed as heterogeneous mutation will have less effect on blood homocysteine levels.[3]
Next, the importance of folic acid for management of thrombotic state due to hyperhomocysteinemia must be considered. The patient has undergone sleeve gastrectomy which may further aggravate her vitamin and micronutrient deficiency. The administration of folic acid (instead of aspirin) will decrease the blood homocysteine levels and reduce the risk of hypercoagulation.[4]
References:
Show More1. Friso S, Girelli D, Trabetti E, Stranieri C, Olivieri O, Tinazzi E, Martinelli N, Faccini G, Pignatti PF, Corrocher R. A1298C methylenetetrahydrofolate reductase mu...
Some more information will make the Case Presentation more Illuminating and Educative, such as:
1) What was Central Venous Pressure,
2) If patient was, presumably Conscious, Oriented, Able to take Food and Fluids by Mouth, could the Intravenous Administration of Fluids be avoided,
3) How did the Elevated Blood Pressure evolved during Hospitalization, either with or without Medications,
4) What was Patient's Diet and Fluid Intake Both Quantitative and Qualitative during the Hospitalization,
5) Whether the Patient took any Formal or Alternative Medicines or Home Remedies for Coryza he had Two Weeks before Episode of Shortness of Breath, that could have caused Autoimmune Hemolysis.
5) If the Patient's Blood Pressure before Present Illnesses was known and if he took any medications for it and any other conditions eg Bleeding per Rectum,
6) What were the instructions including those regarding medications diet and follow-up given to the Patient at the time of Discharge.
The Authors need to be complimented for seeing the patient through the crisis and The BMJ be thanked for bringing it up to the Readers.
Dear editor,
The case report of published in BMI Case Reports 2020 Oct 29;13(10):e236017 by Ong et al. further expanded the knowledge of cheiro-oral syndrome, an incomplete sensory disorder, in clinical practice. Regarding to the classification of cheiro-oral syndrome, authors cited for Satpute et al. (2013), who clearly described the vascular anatomy of thalamus relating to the clinical picture of sensory and other neurological deficits, including some incomplete sensory syndromes. Bogousslavsky et al. (1988) had reported similar results before. However, to my understanding, the four types of cheiro-oral syndrome was firstly suggested by Chen WH (2009).
1.Bogousslavsky J, Regli F, Uske A. Thalamic Infarcts: clinical syndromes, etiology, and prognosis. Neurology. 1988;38:837–848.
2.Chen WH. Cheiro-Oral Syndrome: A Clinical Analysis and Review of Literature. Yonsei Med J. 2009;50(6):777–783.
3.Satpute S, Bergquist J, Cole JW. Cheiro-Oral syndrome secondary to thalamic infarction: a case report and literature review. Neurologist 2013;19:22–5.
To the editor,
Show MoreThe authors of this article appear to be unaware that the cause of "EVALI" was identified almost a year ago. To quote Dr Ann Schuchat, Principal Deputy Director of CDC in December, 2019: "we can conclude that what I call the explosive outbreak of cases of EVALI can be attributed to exposure to THC-containing vaping products that also contained Vitamin E acetate." (1). This followed publication in NEJM of a study which noted that "Vitamin E acetate was identified in BAL fluid obtained from 48 of 51 case patients (94%) in 16 states but not in such fluid obtained from the healthy comparator group." It also noted that "47 of 50 (94%) had detectable tetrahydrocannabinol (THC) or its metabolites in BAL fluid or had reported vaping THC products." It is widely known that people who have become ill due to use of illicit products, such as THC vapes, do not always tell the truth about the illegal products they used. The NEJM study also reported that "9 of 11 patients who reported no use of THC-containing e-cigarette products in the 90 days before the onset of illness had detectable THC or its metabolites in their BAL fluid." These and numerous other studies have clarified that EVALI is caused by vaping THC products contaminated by vitamin E Acetate. Since the cause became clear in December 2019, identification of new cases of this disease dropped markedly, and in February 2020 CDC stopped reporting new cases. We...
Dear Editor,
Show Morewe found the case report of Banthia et al. extremely interesting. First of all, penile plexiform neurofibromas are quite infrequent. Secondly, the subject described did not have a former clinical diagnosis of neurofibromatosis type I prior to the identification of this tumor, which is even rarer. However, we take exception to the therapeutic approach chosen by the authors. In fact, the surgical treatment of deep and extended plexiform neurofibromas is generally unsatisfactory, since their complete resection is frequently unattainable, allowing the masses to grow back (1-2). A partial tumor debulking should be considered only in case of high-risk conditions, such as a urethral or ureteral compression or a bowel obstruction. Apart from these scenarios, a medical approach should always be preferred, at least as a first attempt.
Selumetinib, an inhibitor of MEK 1 and 2 kinase, has demonstrated to be effective in reducing the size of plexiform neurofibromas in pediatric patients (3-4). The drug is generally well tolerated and safe in the pediatric population. Only few patients failed to show a clinical response to the treatment and even fewer had to stop it due to the appearance of severe adverse events.
In a recent study, we reported a cohort of nine patients with inoperable plexiform neurofibromas treated with selumetinib (5). Eight of them showed a partial response to the drug, i.e. a reduction of the tumor size by more than 20%. Remarkably, on...
The authors describe a single patient who tested positive for SARS-Cov-2 and had sensorineural hearing loss.
In their article they mention that the annual incidence of sudden sensorineural hearing loss (SSNHL) is between 5 and 160 patients per 100,000.
The current population of the UK is 67.866.011 according to the latest data (https://www.worldometers.info/demographics/uk-demographics/, accessed 18th October 2020).
This therefore suggests that there will be between 3,393 and 108,585 patients presenting with SSNHL in the UK this year. Accepting that we have not completed the year we can expect around 80% of the above figures to represent the expected incidence so far i.e. somewhere between 2,714 and 86,868 patients experiencing SSNHL.
The estimated incidence of Covid in the UK population is 0.62%, or 1 in 160 people have so far had Covid.
Therefore, purely by statistics alone, the number of patients with both Covid and SSNHL should lie somewhere between 17 and 543.
Whilst the authors make no claim that in their presented case the Covid was directly responsible for the SSNHL it seems surprising that this article was published by the BMJ as it stands without the authors making any attempt to discern the true incidence of SSNHL in patients with Covid.
Dear Editor:
Show MoreWe read with great interest the case report published by De Silva and Winship1 in the September 2020 issue of this journal. They reported the medical history of a 52-year-old male patient who fulfilled the revised Chompret clinical criteria for Li-Fraumeni syndrome (LFS) and carried a germline CHEK2 mutation (NM_007194.4:c.1100del, p.Thr367fs). The authors highlighted the possible link between CHEK2 germline mutations and a Li-Fraumeni like syndrome phenotype.
The term Li-Fraumeni like syndrome (LFL) was introduced by Birch et al. in 1994 to describe LFS families who did not fulfill the classical LFS criteria, but carried a TP53 germline mutation.2,3 Nevertheless, germline mutations in TP53 gene may not detected in some families with clinical diagnosis of the syndrome. In 1999, Bells et al. reported a family who fulfilled classical LFS criteria and carried a CHEK2 pathogenic mutation, c.1100delC.4 At that time, the authors hypothesized for the first time that heterozygous CHEK2 mutations could be related to LFS phenotype. BRCA2 germline mutations were also described in TP53-negative LFS families.5
Most cancer predisposition syndromes have an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expressivity. Genetic and environmental modifiers play a role in intra and interfamilial heterogeneity.8 Environmental modifiers were not mentioned by De Silva and Winship, and should have been described in the c...
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