Adipose derived stromal vascular fraction and fat graft for treating the hands of patients with systemic sclerosis. A randomized clinical trial.

BACKGROUND: Systemic Sclerosis in the hand is characteristically evidenced by Raynaud's phenomenon, fibrosis of the skin, tendons, ligaments, and joints as well as digital ulcers with prolonged healing. Current medical treatment does not always cure these complications. Local adipose-derived stromal vascular fraction administration into the hands has been proposed as an emerging treatment due to its regenerative properties. The objective of this randomized controlled clinical trial was to evaluate the safety and clinical effects of fat micrografts plus adipose derived-stromal vascular fraction administration into the hands of patients with systemic sclerosis. METHODS: This was an open-label, monocentric, randomized controlled study. Twenty patients diagnosed with systemic sclerosis were assigned to the experimental or control group. Fat micrografts plus the adipose derived-stromal vascular fraction were injected into the right hand of experimental group patients. The control group continued to receive only medical treatment. Demographic, serologic data and disease severity were recorded. Digital oximetry, pain, Raynaud phenomenon, digital ulcers number, mobility, thumb opposition, vascular density of the nail bed, skin affection of the hand, serologic antibodies, hand function, and quality of life scores were evaluated in both groups. RESULTS: The results of the intervention were analyzed with the Wilcoxon rank test, and the differences between the control and experimental groups at 0 days and 168 days were analyzed with the Mann-Whitney U test. Adverse events were not observed in both groups. At the end of the study, statistically significant improvements were observed in pain levels (p<0.05) and number of digital ulcers (p<0.01) in the experimental vs control group. CONCLUSION: The injection of adipose derived-stromal vascular fraction plus fat micrografts is a reproducible, and safe technique. Pain and digital ulcers in the hands of patients with systemic sclerosis can be treated with this technique plus conventional medical treatment.

ZDHHC15 as a candidate gene for autism spectrum disorder.

The phenotypic repercussion of ZDHHC15 haploinsufficiency is not well-known. This gene was initially suggested as a candidate for X-linked mental retardation, but such an association was later questioned. We studied a multiplex family with three members with autism spectrum disorder (ASD) by array CGH, karyotype, exome sequencing and X-chromosome inactivation patterns. Medical history interviews, cognitive and physical examinations, and sensory profiling were also assessed. The three family members with ASD (with normal cognitive abilities and an abnormal sensory profile) were the only carriers of a 1.7 Mb deletion in the long arm of chromosome X, involving: ZDHHC15, MAGEE2, PBDC1, MAGEE1, MIR384 and MIR325. The normal chromosome X was preferentially inactivated in female carriers, and the whole exome sequencing of an affected family member did not reveal any additional genetic variant that could explain the phenotype. Thus, in the present family, ASD segregates with a deletion on chromosome X that includes ZDHHC15. Considering our results together with gene data (regarding function, expression, conservation and animal/cellular models), ZDHHC15 is a candidate gene for ASD. Emerging evidence also suggests that this gene could be associated with other neurodevelopmental disorders, with incomplete penetrance and variable expressivity.

Terrestrial impact structures as geoheritage: an assessment method of their scientific value and its application to Brazil.

Terrestrial impact structures are geological and geomorphological features with particular importance to understand the history and evolution of the planet. Impact structures are scattered around the world but in many countries these features are under threat, essentially due to anthropic factors. Impact structures with higher scientific value should be considered as geological heritage and, consequently, be subjected to geoconservation strategies. In order to select the most important impact structures to be properly conserved and managed, this paper proposes a quantitative assessment method of the scientific value of these structures. The eight Brazilian impact structures were used to test this method that has the potential to be applied to any geological context in any country. The structures known as Araguainha Dome-MT and Serra da Cangalha-TO reached a higher scientific value, which justifies the need to develop geoconservation strategies and a proper management.

Terrestrial impact structures as geoheritage: an assessment method of their scientific value and its application to Brazil

ABSTRACT Terrestrial impact structures are geological and geomorphological features with particular importance to understand the history and evolution of the planet. Impact structures are scattered around the world but in many countries these features are under threat, essentially due to anthropic factors. Impact structures with higher scientific value should be considered as geological heritage and, consequently, be subjected to geoconservation strategies. In order to select the most important impact structures to be properly conserved and managed, this paper proposes a quantitative assessment method of the scientific value of these structures. The eight Brazilian impact structures were used to test this method that has the potential to be applied to any geological context in any country. The structures known as Araguainha Dome-MT and Serra da Cangalha-TO reached a higher scientific value, which justifies the need to develop geoconservation strategies and a proper management.

Características clínicas de las gestantes con hipertensión arterial crónica atendidas en un hospital general de Lima / Clinical characteristics of pregnants with chronic hypertension attended in a general hospital in Lima

Objetivos: Describir las características epidemiológicas, clínicas y de laboratorio de las gestantes con hipertensión arterial crónica (HTAC), así como, conocer los resultados del producto de la gestación. Material y métodos: Estudio descriptivo, observacional, longitudinal, retrospectivo, tipo serie de casos. Se incluyeron pacientes gestantes con HTAC cuyo parto fue atendido en el Hospital Nacional Cayetano Heredia entre 2006 y 2012. Se utilizó estadística descriptiva, se determinaron frecuencias y porcentajes para las variables categóricas y medias y desviación estándar para las numéricas continuas. Resultados: Se incluyeron 41 gestantes con HTAC. El 56,1% tenía 35 o más años, 68,3% presentó preeclampsia sobreagregada. La tasa de filtración glomerular estimada fue < 90ml/min en 9,8%, el 58,8% presentó proteinuria en 24 horas > 300mg. El 73,2% tuvo parto abdominal, 41,5% de los recién nacidos fueron prematuros y el 39,1% tuvo peso menor a 2 500 g. Conclusiones: Las gestantes con HTAC presentan características clínicas y epidemiológicas similares a las descritas en otros estudios; con la diferencia que presentaron frecuencia alta de preeclampsia sobreagregada y complicaciones materno - perinatales. (AU)

Objectives: To describe epidemiological, clinical and laboratory characteristics of pregnants with chronic hypertension (CH), as well as to investigate the outcome of their pregnancies. Methods: Case series that included pregnants with CH atttended at Hospital Nacional Cayetano Heredia from 2006 to 2012. Descriptive statistics were used for categorial and continuos variables. Results: A total of 41 pregnants with CH were included; 56% had at least 35 years of age; 68.3% presented associated pre-eclampsia; 9.8% had estimated glomerular filtration rates < 90 mil/min, and 58.8% had proteinuria > 300mg measured in a 24 hour period. Abdominal delivery occured in 73.2%; 41.5% of newborns were pre-term, and 39.1% had body weight less than 2 500g. Conclusions: Pregnants with CH in this setting present with similar features as previously described in other studies, but higher rates of pre-eclampsia and mother-child complications were observed. (AU)