Fabry disease (FD) is characterized by left ventricular hypertrophy (LVH). Conventional echocardiography is not sensitive enough to perform the preclinical diagnosis To assess whether longitudinal myocardial strain of the left ventricle (LV), using speckle tracking, is useful to detect early myocardial involvement in FD. Forty-four patients with FD who were diagnosed with genetic testing were prospectively included and were compared to a sex-matched control group. They were divided into three groups: 22 with LVH (Group I), 22 without LVH (Group II), and 22 healthy volunteers (Group III). LV longitudinal strain was measured from the apical views. An ANOVA test was used for multiple comparisons for variables with a normal distribution, and a Kruskal-Wallis test was used for variables with non-Gaussian distribution. Longitudinal LV strain was different in the three groups: it was ≥-15% in at least one segment in all Group I patients, in 50% of patients of Group II and in no patient of Group III. Seventy percent of the segments with abnormal strain in Group II were located in the basal regions (32/46). These findings show that the presence of at least one strain value ≥-15% demonstrates subclinical myocardial dysfunction in patients with preclinical FD. Longitudinal myocardial LV strain measured with speckle tracking is a useful tool to detect early myocardial involvement in young patients with FD. This information allows the detection and treatment of myocardial dysfunction at an early stage, which is of high clinical importance.
Fabry disease (FD) is an X-linked lysosomal storage disease, with multisystemic glycosphingolipids deposits. Neuro-otological involvement leading to hearing loss and vestibular dysfunctions has been described, but there is limited information about the frequency, site of lesion, or the relationship with peripheral neuropathy. The aim was to evaluate the presence of auditory and vestibular symptoms, and assess neurophysiological involvement of the VIII cranial nerve, correlating these findings with clinical and neurophysiological features of peripheral neuropathy. We studied 36 patients with FD with a complete neurological and neuro-otological evaluation including nerve conduction studies, quantitative sensory testing (to evaluate small fiber by warm and cold threshold detection and cold and heat pain), vestibular evoked myogenic potentials, videonistagmography, audiometry and brainstem auditory evoked potentials. Neuro-otologic symptoms included hearing loss (22.2%), vertigo (27.8%) or both (25%). An involvement of either cochlear or vestibular function was identified in most patients (75%). In 70% of our patients the involvement of both cochlear and vestibular function could not be explained by a neural or vascular mechanism. Small fiber neuropathy was identified in 77.7%. There were no significant associations between neuro-otological and QST abnormalities. Neuro-otologic involvement is frequent and most likely under-recognized in patients with FD. It lacks a specific neural or vascular pattern, suggesting multi-systemic, end organ damage. Small fiber neuropathy is an earlier manifestation of FD, but there is no correlation between the development of neuropathy and neuro-otological abnormalities.
Tuberculosis is one of the leading causes of death worldwide, primarily affecting low- and middle income countries and individuals with limited-resources within fractured health care systems. Unfortunately, the COVID-19 pandemic has only served to aggravate the already existing diagnostic gap, decreasing the number of people who get diagnosed and thereby complete successful treatment. In addition to this, comorbidities act as an external component that when added to the TB management equation, renders it even more complex. Among the various comorbidities that interact with TB disease, diabetes mellitus and depression are two of the most prevalent among non-communicable diseases within the TB population and merits a thoughtful consideration when the healthcare system provides care for them. TB patients with diabetes mellitus (TB-DM) or depression both have an increased risk of mortality, relapse and recurrence. Both of these diseases when in presence of TB present a ‘vicious-circle-like’ mechanism, meaning that the effect of each disease can negatively add up, in a synergistic manner, complicating the patient’s health state. Among TB-DM patients, high glucose blood levels can decrease the effectiveness of anti-tuberculosis drugs; however, higher doses of anti-tuberculous drugs could potentially decrease the effects of DM drugs. Among the TB-depression patients, not only do we have the adherence to treatment problems, but depression itself can biologically shift the immunological profile responsible for TB containment, and the other way around, TB itself can alter the hormonal balance of several neurotransmitters responsible for depression. In this paper, we review these and other important aspects such as the pharmacological interactions found in the treatment of TB-DM and TB-depression patients and the implication on TB care and pharmacological considerations.
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