What Does the General Pediatrician Do When There Are Concerns for a Rare Disease?

Discussion Bardet-Biedl syndrome (BBS) is a rare disorder. It is usually considered an autosomal recessive disorder but there is significant intra-familial variability. There are multiple genes (~20 currently) involved and it is believed that the phenotypic variability is due to “…differences in the total mutational load across different BBS associated genes….” It is a ciliopathy where mutation changes in proteins in the cilias causes problems in the cilia’s functioning particularly signaling. Cilia are important in signaling to maintain tissue and cellular homeostasis. Obviously screening of affected family members would be important, particularly siblings as they would have ~25% chance of being affected. Genetic counseling for future pregnancies is also important. BBS is usually diagnosed with a patient having 4 primary features or 3 primary and 2 secondary features. Polydactyly will be present at birth but the other problems usually develop over the first 2 decades. Primary features Rod-cone dystrophy -> 90% affected, usually before adulthood and is usually the reason for most morbidity Obesity (central) – 72-92% affected, less severe in childhood but increases with age Polydactly – 63-81% affected Learning problems/Mental retardation – 50-61% affected with various learning problems, speech, intellectual disabilities and behavior problems Hypogonadism – 59-98% affected, males generally have micropenis and/or sma...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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Purpose The current study investigated the effects of unilateral passive stretching on the neuromuscular mechanisms involved in the force-generating capacity of the contralateral muscle. Methods Twenty-six healthy men underwent unilateral passive stretching of the plantarflexors (5 × 45 s on + 15 s off; total stretching time, 225 s). Before and after the stretching protocol, contralateral ankle range of motion, maximum voluntary contraction (MVC) of the plantarflexors, and surface electromyographic root-mean-square (sEMG RMS) of the soleus and the gastrocnemii muscles were determined. Concurrently, V-wave,...
Source: Medicine and Science in Sports and Exercise - Category: Sports Medicine Tags: BASIC SCIENCE Source Type: research
Conclusion These data suggest that increased body weight in children is associated with changes in running mechanics. Higher joint moments and ground reaction forces may indicate increased injury risk or the development of joint degeneration among overweight/obese children. Although obesity has been linked to several differences in walking mechanics, few studies have examined movement mechanics of overweight and obese (OW/OB) children performing higher impact activities, such as running.
Source: Medicine and Science in Sports and Exercise - Category: Sports Medicine Tags: APPLIED SCIENCES Source Type: research
Conclusions In conclusion, using contemporary methods to assess muscle architecture and calculate EFFPCSA did not enhance the muscle strength–size association. For understanding/monitoring muscle size, the major determinant of strength, these findings support the assessment of muscle volume, which is independent of architecture measurements and was most highly correlated with strength.
Source: Medicine and Science in Sports and Exercise - Category: Sports Medicine Tags: APPLIED SCIENCES Source Type: research
Purpose Epidemiological studies suggest that sedentary behavior is an independent risk factor for cardiovascular mortality independent of meeting physical activity guidelines. However, limited evidence of this relationship is available from prospective interventions. The purpose of the present study is to evaluate the combined effect of aerobic training and increasing nonexercise physical activity on body composition and cardiometabolic risk factors. Methods Obese adults (N = 45) were randomized to 6 months of aerobic training (AERO), aerobic training and increasing nonexercise physical activity (~3000 steps abo...
Source: Medicine and Science in Sports and Exercise - Category: Sports Medicine Tags: APPLIED SCIENCES Source Type: research
Conclusions Structured aerobic exercise at a dose of 20 KKW produced less weight loss than expected possibly due to behavioral adaptations leading to reduced 24EE in a metabolic chamber without any change in energy intake.
Source: Medicine and Science in Sports and Exercise - Category: Sports Medicine Tags: APPLIED SCIENCES Source Type: research
Conclusion These findings demonstrate that T2D and HTN attenuate tolerance to uncompensable heat stress (32°C WBGT); however, these chronic diseases do not significantly impact thermal and cardiovascular strain, or the validity of ACIGH recommendations during moderate-intensity work.
Source: Medicine and Science in Sports and Exercise - Category: Sports Medicine Tags: APPLIED SCIENCES Source Type: research
Conclusion Chronic exercise seems to prime the central nervous system for acute, intensive bouts of exercise. Our findings indicate a possible relationship between cognitive performance in high-demand tasks and retinal vasculature and support the idea of a neuroplastic effect of exercise.
Source: Medicine and Science in Sports and Exercise - Category: Sports Medicine Tags: APPLIED SCIENCES Source Type: research
We present a relatively large retrospective cohort of urinary LCNEC, 20 from the urinary bladder, and 2 from the ureter, from a single institution. The patients included 16 men and 6 women with a median age of 74.5 years. Most LCNEC presented at an advanced stage with tumors invading the muscularis propria and beyond (21/22). Eight cases were pure LCNEC, while 14 cases were mixed with other histologic types, including conventional urothelial carcinoma (n=9), carcinoma in situ (n=7), small cell carcinoma (n=6), and urothelial carcinoma with glandular (n=3) features. Most LCNEC expressed neuroendocrine markers synaptophysin ...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Original Articles Source Type: research
In conclusion, awareness of the risk factors associated with IFIS, their detailed preoperative assessment and intraoperative measures and surgical intervention is crucial in addressing IFIS. Lack of awareness can turn a routine, uneventful surgery into one with significant visual morbidity.
Source: International Ophthalmology - Category: Opthalmology Source Type: research
A new class of therapies based on transfer RNA could treat forms of cystic fibrosis, muscular dystrophy, genetic epilepsies, and more
Source: Chemical and Engineering News - Category: Chemistry Authors: Source Type: research
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