Nephropathic cystinosis is a multisystem autosomal recessive disease caused by cystine accumulation, which is usually treated by oral cysteamine. In order to determine long-term effects of this therapy, we enrolled 86 adult patients (mean age 26.7 years) diagnosed with nephropathic cystinosis, 75 of whom received cysteamine. Therapy was initiated at a mean age of 9.9 years with a mean duration of 17.4 years. By last follow-up, 78 patients had end-stage renal disease (mean age 11.1 years), 62 had hypothyroidism (mean age 13.4), 48 developed diabetes (mean age 17.1 years), and 32 had neuromuscular disorders (mean age 23.3 years). Initiating cysteamine therapy before 5 years of age significantly decreased the incidence and delayed the onset of end-stage renal disease, and significantly delayed the onset of hypothyroidism, diabetes, and neuromuscular disorders. The development of diabetes and hypothyroidism was still significantly delayed, however, in patients in whom therapy was initiated after 5 years of age, compared with untreated patients. The life expectancy was significantly improved in cysteamine-treated versus untreated patients. Thus, cysteamine decreases and delays the onset of complications and improves life expectancy in cystinosis. Hence, cysteamine therapy should be introduced as early as possible during childhood and maintained lifelong.
The GEA Scale is a global scale validated both on photographs and acne patients which can be used either in clinical research or by the dermatologist in his office.
Acne can have an important psychological impact. We surveyed 852 adolescents aged 12-25 years about their knowledge of acne and its treatment in a non-medical context. The study involved a questionnaire administered to callers to a youth telephone helpline in France. Callers were categorized into those who currently had acne, those who had had acne previously, and those who had never had acne. Most respondents (66.2%) had experienced acne symptoms, which were mild in 50.2% of cases and severe in 16% of cases. Often, acne had been long-lasting (>12 months in 49.6% of cases). Many thought that gender, excess weight, eating dairy products, and physical activity did not influence acne, and that frequent washing could improve acne. Eating chocolate and snacks, smoking cigarettes, sweating, not washing, touching/squeezing spots, eating fatty foods, using make-up, pollution, and menstruation were thought to worsen acne. The majority (80.8%) did not believe acne to be a disease, but rather a normal phase of adolescence, yet 69.3% agreed it should be treated. There was a preference for topical vs. systemic treatment. Many (38.6%) of the respondents with acne had not consulted a physician. Almost two-thirds of respondents wanted more information about acne. Providing more information about acne might increase the likelihood of them consulting a physician and getting better treatment for the condition.
Previous research has led to the idea that derived traits can arise through the evolution of novel roles for conserved genes. We explored whether Neuropeptide Y-like signaling, a conserved pathway that regulates food-related behavior, is involved in a derived, nutritionally-related trait, division of labor in worker honey bees. Transcripts encoding two NPY-like peptides were expressed in separate populations of brain neurosecretory cells, consistent with endocrine functions. NPY-related genes were upregulated in the brains of older foragers compared to younger bees performing brood care ("nurses"). A subset of these changes can be attributed to nutrition, but NPF peptide treatments did not influence sugar intake. These results contrast with recent reports of more robust associations between division of labor and the related insulinsignaling pathway and suggest that some elements of molecular pathways associated with feeding behavior may be more evolutionarily labile than others.
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