The Reply

The letter by Dr Stricker regarding Radonjic's analysis of Christina's World,1 which casts the famous work of art in a new light, is certainly welcome. Rather than accepting the usual diagnosis of Charcot-Marie-Tooth (CMT) disease, Dr Stricker proposes Lyme disease as the condition that leads the woman to take such a vulnerable pose. Although such a novel interpretation is an important part of the ongoing discourse on this piece, upon deeper analysis there are several aspects to further explore.
Source: The American Journal of Medicine - Category: General Medicine Authors: Tags: Letter Source Type: research

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Source: Nursing - Category: Nursing Tags: Department: INFECTION PREVENTION Source Type: research
Semin Neurol 2021; 41: 673-685 DOI: 10.1055/s-0041-1726358Facial palsy is a common neurologic concern and is the most common cranial neuropathy. The facial nerve contains motor, parasympathetic, and special sensory functions. The most common form of facial palsy is idiopathic (Bell's palsy). A classic presentation requires no further diagnostic measures, and generally improves with a course of corticosteroid and antiviral therapy. If the presentation is atypical, or concerning features are present, additional studies such as brain imaging and cerebrospinal fluid analysis may be indicated. Many conditions may present with f...
Source: Seminars in Neurology - Category: Neurology Authors: Tags: Review Article Source Type: research
CONCLUSION: Web search data, given the limitations noted, are able to directly provide spatiotemporal mapping regarding the needs of the Internet-using population. They are particularly useful in situations where traditional health data are limited or unavailable.PMID:34812913 | PMC:PMC8609262 | DOI:10.1007/s00105-021-04918-x
Source: Der Hautarzt: Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - Category: Dermatology Authors: Source Type: research
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Source: eMedicineHealth.com - Category: General Medicine Source Type: news
Conclusions: For patients in endemic regions who describe symptoms suggestive of intracranial hypertension and papilledema, especially accompanied by facial nerve palsy and other cranial nerve palsies, underlying neurologic LB should be considered.
Source: Journal of Neuro-Ophthalmology - Category: Opthalmology Tags: Original Contribution Source Type: research
Intern Med. 2021 Nov 20. doi: 10.2169/internalmedicine.8029-21. Online ahead of print.ABSTRACTThe PRPS1 gene encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). The phenotypes associated with PRPS1 mutations include DFN2 (mild PRS-1 deficiency), CMTX5 (moderate PRS-1 deficiency), Arts syndrome (severe PRS-1 deficiency), and PRS-1 superactivity1. X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a very rare hereditary neuropathy characterized by deafness, optic atrophy, and polyneuropathy. We herein report a Japanese patient with CMTX5 who had a novel hemizygous mutation c.82 G>C in PRPS1. Despite showing a t...
Source: Internal Medicine - Category: Internal Medicine Authors: Source Type: research
Intern Med. 2021 Nov 20. doi: 10.2169/internalmedicine.6487-20. Online ahead of print.ABSTRACTCharcot-Marie-Tooth disease (CMT) is a common hereditary peripheral polyneuropathy encompassing distinct monogenetic disorders. Pathogenic mutations in mitofusin 2 (MFN2) are the most frequent cause of its axonal type, CMT type 2A, with diverse phenotypes. We herein report a Japanese patient with a novel heterozygous MFN2 pathogenic variant (c.740 G>C, p.R247P) and severe CMT phenotypes, including progressive muscle weakness, optic atrophy, urinary inconsistency, and restrictive pulmonary dysfunction with eventration of the dia...
Source: Internal Medicine - Category: Internal Medicine Authors: Source Type: research
Intern Med. 2021 Nov 20. doi: 10.2169/internalmedicine.8029-21. Online ahead of print.ABSTRACTThe PRPS1 gene encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). The phenotypes associated with PRPS1 mutations include DFN2 (mild PRS-1 deficiency), CMTX5 (moderate PRS-1 deficiency), Arts syndrome (severe PRS-1 deficiency), and PRS-1 superactivity1. X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a very rare hereditary neuropathy characterized by deafness, optic atrophy, and polyneuropathy. We herein report a Japanese patient with CMTX5 who had a novel hemizygous mutation c.82 G>C in PRPS1. Despite showing a t...
Source: Internal Medicine - Category: Internal Medicine Authors: Source Type: research
Intern Med. 2021 Nov 20. doi: 10.2169/internalmedicine.6487-20. Online ahead of print.ABSTRACTCharcot-Marie-Tooth disease (CMT) is a common hereditary peripheral polyneuropathy encompassing distinct monogenetic disorders. Pathogenic mutations in mitofusin 2 (MFN2) are the most frequent cause of its axonal type, CMT type 2A, with diverse phenotypes. We herein report a Japanese patient with a novel heterozygous MFN2 pathogenic variant (c.740 G>C, p.R247P) and severe CMT phenotypes, including progressive muscle weakness, optic atrophy, urinary inconsistency, and restrictive pulmonary dysfunction with eventration of the dia...
Source: Internal Medicine - Category: Internal Medicine Authors: Source Type: research
Radonjic's article about Andrew Wyeth's masterpiece, Christina's World,1 is thought-provoking even though it simply covers old ground about the possible diagnosis of Charcot-Marie-Tooth (CMT) polyneuropathy in the woman who is the subject of the painting.2 As is often the case in art and medicine, however, viewing a picture with fresh eyes may reveal new possibilities. Therefore, it is worthwhile to consider a different diagnosis in this young woman of Scandinavian descent lying in a lush New England field of grass.
Source: The American Journal of Medicine - Category: General Medicine Authors: Tags: Letter Source Type: research
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