RESUMO -A síndrome do X frágil é a causa mais comum de retardo mental herdado; entretanto, é subdiagnosticada na população pediátrica. Objetivamos, neste estudo, determinar as características clínicas pré e pós-puberais mais significativas observadas entre indivíduos que apresentam a mutação no gene FMR-1, e que possam ser utilizadas como método de triagem dos pacientes que devem ser submetidos à análise molecular. A partir de protocolo clínico-laboratorial, foram analisados 104 indivíduos (92 do gênero masculino e 12 do feminino) portadores de retardo mental idiopático. 17 pacientes (14 do gênero masculino) apresentaram a mutação completa. História familiar de retardo mental e contato ocular pobre foram os achados que se mostraram associados, de forma estatisticamente significante (p<0,05), aos pacientes com a síndrome do X frágil em idade pré e pós-puberal. Os pacientes em idade pós-puberal também diferiram dos controles em relação à presença de orelhas grandes, fronte proeminente e macroorquidismo.PALAVRAS-CHAVE: síndrome do X frágil, retardo mental, FMR-1.Fragile X syndrome confirmed by molecular analysis: a case-control study with pre and post-puberal patients ABSTRACT -The fragile X syndrome (FRAXA) is the most common cause of inherited mental retardation. However, it has been frequently underdiagnosed in pediatric population. The characterization of the most significant pre and post-puberal clinical features observed among patients that are positive for the FMR-1 mutation, is useful as a screening tool for ordering the DNA test. Therefore, a screening program for FRAXA has been conducted in a sample of 104 mentally retarded individuals (92 males and 12 females), comprehending familial history and physical examination in order to determine the clinical characteristics. The molecular test for the disease was performed in all individuals. Seventeen patients (14 males) were positive for the FMR-1 mutation. Familial mental retardation and poor eye contact were the most common clinical findings with statistical significance (p<0.05) in FRAXA pre and post-puberal patients. The post-puberal patients presented, as opposed to the control group, large ears, broad forehead and macroorchidism.

Skin aging goes beyond a chronological process and also results from extrinsic factors referred to as the exposome. Hyaluronic acid (HA) is an important component of the extracellular matrix, with loss starting at 25 years old. While many studies of HA concern topical use, few literature reviews only address the use of topical HA in dermatology. This review describes the different characteristics of HA-containing cosmeceuticals, with a focus on skin aging and the impact of exposome factors on HA synthesis and degradation. A review was performed using the terms HA, hyaluronan, topical, dermatology, cosmetic, aging treatment, exposome, and cosmeceuticals.Results are also presented from a recent randomized controlled trial (RCT), which investigated the additional benefit of using a HA epidermic filler (HA-filler serum) combined with Botulinum toxin type A (BoNTA) to treat signs of skin aging. Subjects were randomized to two groups: HA-filler serum starting 24 h after the BoNTA injection then twice daily for 24 weeks, or the control group, which received BoNTA. HA is a key ingredient used in cosmeceuticals for its hydration/antiaging properties (hygroscopic, rheological, and viscoelastic). Several clinical studies indicate that HA is both well tolerated and effective, adjuvant to both post-surgical and facial rejuvenation procedures. In the RCT, one of few studies to combine BoNTA and HA with a 6-month follow-up, the HA-filler serum lengthened the duration of BoNTA's effect in reducing wrinkles. Numerous studies support HA-based cosmeceuticals as a noninvasive, effective solution for improving skin hydration and rejuvenation.

Background: Acne is a chronic disease that affects the pilosebaceous follicle and is characterized by the presence of non-inflammatory and/or inflammatory lesions, affecting both adolescents and adults. Inflammatory acne lesions are capable to increase their melanin production and promote a post-inflammatory hyperchromia. Aims:To assess the efficacy of a serum containing dioic acid, glycolic acid, salicylic acid, LHA, citric acid, and HEPES in treating post-inflammatory hyperpigmentation and controlling skin oiliness in Brazilian patients with acne vulgaris.Patients/Methods: A single-center, prospective, open-label clinical study included 42 subjects, from both genders, presenting acne (grade I or II), oily skin and a clinical diagnosis of acne post-inflammatory hyperpigmentation. The study was conducted for 56 days, with clinical (skin quality and the number of post-inflammatory hyperchromic lesions) and instrumental (Sebumetry) evaluations after 7, 28, and 56 days of treatment. Standardized pictures were obtained using a VISIA-6 ® device.Results: A significant decrease in the grade of post-inflammatory hyperchromic lesions was observed after 28 and 56 days, while the number of lesions decreases by 29.4% after 56 days (p < 0.001). Sebumetry values showed a significant decrease of 30.7% in the oiliness after 7 days of treatment, and then stable during the study conduction period of 56 days (p < 0.001 for all measurements). Conclusions:The daily treatment using the investigational product showed an interesting decrease both in the grade and the number of post-inflammatory hyperchromia acne lesions after 56 days, and in the oiliness after 7 days, being stable for all study period.

Background Skin aging is a process regulated by chronological aging and amplified by exposome factors including chronic UV exposure and pollution, which both induce reactive oxygen species. Topical antioxidants have the potential to counteract this process and to improve skin aging signs, including wrinkles and hyperpigmentation. Objective To evaluate the efficacy of a topical antioxidant serum containing 15% L‐ascorbic acid, neohesperidin, Pinus pinaster bark, tocopherol, and hyaluronic acid (HA) ex vivo on air pollution‐induced pigmentation and gene expression, as well as in vivo on skin aging signs in Brazilian volunteers, after 90 days of use. Methods Ex vivo human skin samples were repetitively exposed to Diesel Exhaust Particles (DEP) and subsequently analyzed for changes in pigmentation and gene expression. Clinical efficacy was evaluated in 40 healthy adult females with phototype II to IV and visible photoaging signs, including facial hyperpigmentation, through dermatological evaluation and instrumental analysis including Reflectance Confocal Microscopy. Results Ex vivo, the topical antioxidant serum significantly reduced DEP‐induced skin pigmentation and expression of proinflammatory genes. A significant improvement of skin aging signs was observed after 90 days. Local tolerance was good. Conclusion The tested serum is effective in protecting human skin ex vivo against air pollution‐induced skin pigmentation/aging and reduced in vivo skin aging signs, with a good safety profile after 90 days of daily use.

A síndrome de Gorlin-Goltz é uma rara desordem hereditária autossômica dominante, causada pela mutação no gene PTCH1. A tríade clássica descrita por Gorlin e Goltz em 1960 é composta por múltiplos carcinomas basocelulares, cistos odontogênicos e costela bífida, porém várias outras alterações podem estar presentes, como pits palmoplantares, calcificações da foice cerebral, neoplasias raras como o meduloblastoma, malformações congênitas, macrocefalia e diversas alterações esqueléticas1. O diagnóstico é baseado em critérios clínicos, radiológicos e presença de parente de primeiro grau com a síndrome1,3. Relatamos dois casos que ilustram a necessidade de exame clínico rigoroso, investigação radiológica e acompanhamento multidisciplinar após a suspeita clínica, já que a expectativa de vida geralmente não é afetada, porém o potencial de morbidade pode ser considerável2.

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