Síndrome de Werner: relato de caso / Werner's syndrome: case report / Síndrome de Werner: reporte de un caso

Introdução: Síndrome de Werner, doença autossômica recessiva, tem como característica o envelhecimento precoce e acelerado. Objetivo: Descrever a evolução clínica favorável da síndrome de Werner em paciente acompanhada periodicamente no ambulatório de geriatria para promover atenção ao processo de envelhecimento por meio de abordagem preventiva e tratamento precoce das alterações que caracterizam a doença. Material e Método: Paciente de 31 anos de idade, sexo feminino, admitida no ambulatório de Aconselhamento Genético de um hospital-escola do noroeste paulista, apresentando baixa estatura, ulcerações, dor em região plantar e dificuldade para deambular, alterações cutâneas pigmentares com fissuras e ressecamento de toda a pele, além de cabelos grisalhos e quebradiços, catarata bilateral, hipotireoidismo e osteoporose. Tinha antecedentes familiares compatíveis com pais consanguíneos, um casal de irmãos hígidos e mãe com histórico de ocorrência de dois abortos espontâneos consecutivos. Apresentava, portanto, critérios diagnósticos para síndrome de Werner. Foi tratada nos ambulatórios de geriatria, endocrinologia, dermatologia, oftalmologia e ortopedia da mesma Instituição. Resultado: O tratamento consistiu na remoção cirúrgica de catarata, uso de levotiroxina 75 mcg/dia e de creme hidratante para pele (ácido salicílico 20% e vaselina sólida 30g), calçado ortopédico para pé neuropático com solado em EVA de média compressão, antiderrapante, confeccionado sob medida. Houve melhora na sintomatologia, especialmente quanto à deambulação com as medidas terapêuticas adotadas. Conclusão: A avaliação interdisciplinar inicial da paciente foi fundamental, pois possibilitou a elaboração precoce do diagnóstico e o acompanhamento no ambulatório de geriatria, promovendo maior atenção ao processo de envelhecimento preconizado por uma abordagem preventiva e tratamento subsequente das alterações que caracterizam a síndrome de Werner.(AU)

Introduction: Werner syndrome, an autosomal recessive disease, is characterized by premature and accelerated aging. Objective: To describe the favorable clinical evolution of Werner's syndrome in a patient periodically followed in the geriatric outpatient clinic to promote attention to the aging process through a preventive approach and early treatment of the changes that characterize the disease. Material and Method: A 31-year-old female patient, admitted to the Genetic Counseling outpatient clinic of a school hospital in northwestern pigmentary skin changes with cracks and dryness of the entire skin, as well as gray and brittle hair, bilateral cataract, hypothyroidism and osteoporosis. She had a family history compatible with consanguineous parents, a couple of healthy siblings and a mother with a history of two consecutive miscarriages. It therefore presented diagnostic criteria for Werner syndrome. She was treated in geriatric, endocrinology, dermatology, ophthalmology and orthopedics clinics of the same institution. Result: The treatment consisted of surgical removal of cataract, use of levothyroxine 75 mcg/day and moisturizing cream for skin (salicylic acid 20% and solid petroleum jelly 30g), orthopedic footwear for neuropathic foot anti-slip, made to measure. There was improvement in symptomatology, especially regarding ambulation with the therapeutic measures adopted. Conclusion: The initial interdisciplinary evaluation of the patient was fundamental, since it enabled the early preparation of the diagnosis and the follow-up in the geriatric outpatient clinic, promoting greater attention to the aging process recommended by a preventive approach and subsequent treatment of the changes that characterize Werner's syndrome.(AU)

Introducción: El síndrome de Werner, una enfermedad autosómica recesiva, se caracteriza por un envejecimiento prematuro y acelerado. Objetivo: Describir la evolución clínica favorable del síndrome de Werner en un paciente en seguimiento periódico en la consulta externa de geriatría para promover la atención al proceso de envejecimiento a través de un abordaje...(AU)

Effects of Bushen-Yizhi formula on age-related inflammation and oxidative stress in senescence-accelerated mice.

The present study aimed to investigate the possible effects and underlying molecular mechanism of Bushen­Yizhi formula (BSYZ), a traditional Chinese medicine, on age­related degeneration of brain physiology in senescence­accelerated mouse prone 8 (SAMP8) mice. SAMP8 mice (age, 6 months) were administered BSYZ (1.46, 2.92 and 5.84 g/kg/day) for 30 days. Morris water maze and step­down tests demonstrated that BSYZ significantly improved memory impairments in SAMP8 mice. In addition, BSYZ significantly enhanced the expression levels of peroxisome proliferator­activated receptor­Î³ and B­cell lymphoma extra­large, and downregulated the expression levels of inflammatory mediators, glial fibrillary acidic protein, cyclooxygenase­2, nuclear factor­κB and interleukin­1ß in the brain compared with untreated SAMP8 mice. Furthermore, BSYZ reversed disordered superoxide dismutase activity, malondialdehyde content and glutathione peroxidase activity, and ameliorated apoptosis and histological alterations. The present study indicated that BSYZ may attenuate cognitive impairment in SAMP8 mice, and modulate inflammation, oxidative stress and neuronal apoptosis. These results suggested that BSYZ may have the potential to be further developed into a therapeutic agent for protection against age­related neurodegenerative diseases.

[Development of osteoporosis in prematurely aging OXYS rats].

The early osteoporosis in OXYS rats is the presentation of accelerated senescence and earlier positioned as senile. The present study shows the changes in metabolism detected in OXYS rats in the postnatal period. They lead to the development of osteoporosis in future and may underlie the formation of reduced peak bone mass. 90 males OXYS rats used in this study aged from 10 days to 24 months and the control group consisted of 90 male Wistar rats of the matched ages. No differences in BMD in OXYS and Wistar rats at the age of 10 days and 3 months was revealed. At the age of 10 days the OXYS rats showed the higher by 40% activity of ALH--the marker of osteoblast activity--than Wistar rats; but at the age of 3 months ALH activity in OXYS was lower than in Wistar rats. The peak bone mass and BMD in Wistar rats is formed by the age of 12 months, in OXYS rats already by 6, but it did not reach the level of Wistar. The content of Ca in the blood and bone tissue changes similarly: no difference in young age, but reduces in OXYS rats after 6 months to the background of enhanced Ca excretion in urine. However, changing the mineral composition of bone in OXYS rats did not affect the mechanical strength: the absolute strength of the long bones in OXYS at 12 months was lower than that of Wistar, but at the expense of decrease by 1,7 times the cross-sectional area. We suppose that genetically determined hypoplasia of the bone tissue in OXYS rats is the starts of pathogenetic mechanisms of idiopathic osteoporosis.

[Dietary supplementation with bilberry extract prevents macular degeneration and cataracts in senesce-accelerated OXYS rats].

Cataracts and macular degeneration remain the major cause of blindness and acuity of vision deterioration in the elderly. Both pathology have been attributed to damage by free radicals, there has been a great deal of interest in antioxidants. Bilberry's flavonoids are known as potent antioxidants, scavenging free radicals and used for multiple age-releted ocular disorders. There are no experimental studies, devoted to estimation of bilberry effect. To explore this one the senescence-accelerated OXYS rats with early senile cataract and macular degeneration were used. From 1.5 to 3 month OXYS rats were given control diets or those supplemented with 25% bilberry extract (BE, 20 mg on kg of body weight including 4.5 mg of antocianidin) or vitamin E (40 mg/kg) as drag for comparison. The testing at 3 month have showed that more then 70% of control OXYS rats had cataract and macular degeneration while the supplementation of BE completely prevented impairments in the lenses and retina. The VE had no significant effects but both antioxidants decreased lipid peroxides in the retina and serum of OXYS rats. The results suggest that the OXYS rat strain is the useful model for macular degeneration and senile cataract and long-term supplementation with BE is effective in prevention of macular degeneration and cataract.

Comparison of antioxidants in the ability to prevent cataract in prematurely aging OXYS rats.

The biological model of prematurely aging OXYS rats is proposed for evaluation of anticataract activity of preparations. Pathological changes in the lens develop in 2-month-old OXYS rats. By the 6th month of life cataract morbidity rate attains 100%. Adrusen Zinco, Mirtilene Forte, blueberry extract, and vitamin E (Russian and from Sigma) possessing antioxidant properties and given with food decreased the number of OXYS rats with cataract. The preparation from blueberry Mirtilene Forte and blueberry extract normalized the content of lipid peroxidation products in the blood. Blueberry extract manufactured in Russia decreased the index of lipid atherogenicity that was high in OXYS rats.