Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen.

BACKGROUND AND PURPOSE: Following the commercial availability of nusinersen, there have been a number of new referrals of adults with spinal muscular atrophy (SMA) not regularly followed in tertiary-care centers or enrolled in any disease registry. METHODS: We compared demographics and disease characteristics, including assessment of motor and respiratory function, in regularly followed patients and newcomers subdivided according to the SMA type. RESULTS: The cohort included 166 adult patients (mean age: 37.09 years): one type I, 65 type II, 99 type III, and one type IV. Of these 166, there were 67 newcomers. There was no significant difference between newcomers and regularly followed patients in relation to age and disease duration. The Hammersmith Functional Motor Scale Expanded and Revised Upper Limb Module scores were higher in the regularly followed patients compared to newcomers in the whole cohort and in both SMA II and II. A difference was also found on ventilatory status (p = 0.013) and Cobb's angle >50° (p = 0.039) between the two subgroups. No difference was found in scoliosis surgery prevalence (p > 0.05). CONCLUSIONS: Our results showed differences between the two subgroups, even if less marked in the type III patients. In the type II patients, there was a higher proportion of newcomers who were in the severe end of the spectrum. Of the newcomers, only approximately a third initiated treatment, as opposed to the 51% in the regularly followed patients. The identification of patients who were not part of the registries will help to redefine the overall prevalence of SMA and the occurrence of different phenotypes.

Estrogen therapy influence on periurethral vessels in postmenopausal incontinent women using Dopplervelocimetry analysis.

UNLABELLED: Lack of estrogen affects the urinary tract mainly by diminishing vascular, muscular and epithelial trophism, resulting in negative effects on continence in postmenopausal women. Therefore, the use of estrogens in these patients may revert these alterations and lead to an expressive improvement of the urinary symptoms. OBJECTIVE: Study the effect of topical estrogen therapy (conjugated equine estrogens, estriol or promestriene) in periurethral vessels detected by Dopplervelocimetric analysis using, as parameters: the number of vessels, resistance and pulsatility indexes, as well as the minimum diastolic value. METHODS: Forty-one postmenopausal women with stress urinary incontinence were randomized into three groups according to different types of topical estrogen received during 3 months. Group 1 received conjugated equine estrogens, group 2 received estriol and group 3 received promestriene. Periurethral Dopplervelocimetry analysis was done before estrogen administration and during treatment in all groups. RESULTS: We observed an increase in the number of the periurethral vessels in group 1 and group 2, being higher in group 1 than in group 2. The pulsatility index remained unchanged in all three groups. The resistance index at the periurethral vessels reduced only at the conjugated estrogen group (group 1). In this same group we noticed an increase in the mean minimal diastolic value, meaning a better periurethral vascularization. CONCLUSION: Topical conjugated equine estrogens and estriol were effective in increasing the number of periurethral vessels in postmenopausal women with urinary stress incontinence, with the conjugated equine estrogens being the most effective intervention studied.

Hormonal influence on periurethral vessels in postmenopausal incontinent women using Doppler velocimetry analysis.

UNLABELLED: The lack of estrogen affects the urinary tract mainly by diminishing vascular, muscular and epithelial trophism, resulting in negative effects on continence in postmenopausal women. OBJECTIVE: Study the effect of hormone therapy (estrogen and progesterone) in periurethral vessels detected by Doppler velocimetric analysis using, as parameters, the number of vessels, resistance and pulsatility indexes, as well as the minimum diastolic value. METHODS: Thirty-eight postmenopausal women with stress urinary incontinence were randomized into two groups. The first consisted of women receiving 3 months of estrogen therapy previous to 3 months of continuous estrogen and progesterone combined therapy. The second comprised of women receiving 3 months of continuous estrogen and progesterone therapy. Periurethral Doppler velocimetric analysis was done before hormone administration and during treatment in both groups. RESULTS: We observed a statistically significant increased number of periurethral vessels during treatment in both groups. There was an increase in value of the mean minimum diastolic value during estrogen and progesterone therapy in Group 2. The resistance indexes diminished in both groups. However, they were not statistically significant. CONCLUSION: Hormonal therapy of short duration (3-6 months) had a positive effect on the urethral continence mechanism increasing the number of periurethral vessels either with estrogen alone or combined therapy (estrogen and progesterone).