Rickets in adult cystic fibrosis with myopathy,pancreatic insufficiency and proximal renal tubular dysfunction

Rickets is reported in a 19 year old white man with cystic fibrosis in whom pancreatic and hepatic involvement was advanced. There was evidence of secondary hyperparathyroidism with proximal renal tubular acidosis, aminoaciduria, phosphaturia and hypophosphatemia. Treatment with oral pancreatic and parenteral vitamin D supplements led to full recovery of the rachitic syndrome and the proximal renal tubular dysfunction.     

Cognition in older women: the importance of daytime movement

OBJECTIVES: To determine whether an objective measure of daytime movement is associated with better cognitive function in women in their 80s. DESIGN: Cross‐sectional. SETTING: A study of health and aging. PARTICIPANTS: Two thousand seven hundred thirty‐six older women without evidence of dementia. MEASUREMENTS: Daytime movement was assessed using actigraphy, which involved wearing a watch‐like device that objectively quantified accelerometer motion over a mean of 3.0±0.8 days. Cognitive function was measured using the Trail‐Making Test, Part B (Trails B) and the Mini‐Mental State Examination (MMSE). Cognitive impairment was defined as performing 1.5 standard deviations (SDs) worse than the mean on a given test. RESULTS: Participants had a mean age of 83±4; 10% were African American. After adjustment for age, race, and education, women in the highest movement quartiles had better mean cognitive test scores (20±0.3 seconds faster on Trails B and 0.3±0.2 points higher on MMSE, both P<.001) than those in the lowest quartile and were less likely to be cognitively impaired (odds ratio (OR)=0.61, 95% confidence interval (CI)=0.41–0.92 for Trails B; OR=0.68, 95% CI=0.44–1.07 for MMSE). Associations were similar in different subgroups and were independent of self‐reported walking, medical comorbidities, physical function, and other health‐related behaviors. CONCLUSION: Daytime movement as measured objectively using actigraphy was associated with better cognitive function and lower odds of cognitive impairment in women in their 80s. Additional studies are needed to clarify the direction of the association and to explore potential mechanisms.     

Recurrent Spontaneous Paresthesia in the Upper Limb Could Be Due to Migraine: A Case Series

Transient neurologic dysfunction is a characteristic feature of migraine. About 20% of migraineurs may experience various symptoms in the absence of any headache at one time or another. Visual auras are the most common auras of migraine, and migraine is considered as the most common cause of transient vision loss in young patients. Sensory auras are the second most common migrainous auras. However, the literature is silent for isolated sensory aura as a migraine equivalent. Herein we report 14 patients with recurrent episodic paresthesia in the limbs and other body parts. All patients fulfilled the diagnostic criteria of “typical aura without headache” of ICHD‐3β. All patients were subjected to various investigations to rule out secondary causes. Ten patients received antimigraine drugs and all showed a positive response to therapy. Recurrent spontaneous paresthesia is quite common in the general population and many patients remain undiagnosed. We speculate that a subset of patients might be related to migrainous sensory auras.     

Erectile Impotence in Chronic Alcoholics

Erectile impotence is a common complaint in alcoholics, but its mechanism is unknown. We have studied nocturnal penile erection in 13 alcoholics who complained of impotence. Seven had normal erections and their impotence was therefore psychogenic. Six were found to have diminished or absent nocturnal erections. Plasma concentrations of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) were elevated in this latter group, with the exception of one patient who had only raised FSH. They also had more evidence of neurological damage than the other seven alcoholics, and two had evidence of damage to the parasympathetic nervous system. Investigation of erection during sleep in alcoholic patients with impotence may be useful in differentiating clinically between patients with psychogenic causes and patients with organic causes of impotence.     

Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland)

The American College of Medical Genetics and Genomics released recommendations for reporting incidental findings (IFs) in clinical exome and genome sequencing. These suggest ‘opportunistic genomic screening'' should be available to both adults and children each time a sequence is done and would be undertaken without seeking preferences from the patient first. Should opportunistic genomic screening be implemented in the United Kingdom, the Association of Genetic Nurses and Counsellors (AGNC), which represents British and Irish genetic counsellors and nurses, feels strongly that the following must be considered (see article for complete list): (1) Following appropriate genetic counselling, patients should be allowed to consent to or opt out of opportunistic genomic screening. (2) If true IFs are discovered the AGNC are guided by the report from the Joint Committee on Medical Genetics about the sharing of genetic testing results. (3) Children should not be routinely tested for adult-onset conditions. (4) The formation of a list of variants should involve a representative from the AGNC as well as a patient support group. (5) The variants should be for serious or life-threatening conditions for which there are treatments or preventative strategies available. (6) There needs to be robust evidence that the benefits of opportunistic screening outweigh the potential harms. (7) The clinical validity and utility of variants should be known. (8) There must be a quality assurance framework that operates to International standards for laboratory testing. (9) Psychosocial research is urgently needed in this area to understand the impact on patients.     

Caffeine content of pre‐workout supplements commonly used by Australian consumers

The stimulant properties of caffeine are often promoted in pre‐workout supplements (PWS) to assist with training, reduce the perception of fatigue, and for some brands, assist body fat loss. While manufacturers of PWS often indicate the inclusion of significant amounts of caffeine, no independent verification of the caffeine content of these products exists. The aim of this investigation was to independently assess the caffeine content of popular PWS in Australia and compare these values to nutrition information panel data. Fifteen PWS were tested for their caffeine content (both within and between batches of the same product). The caffeine content of selected PWS ranged from 91 to 387 mg·serve^?1. Only 6 of the 15 PWS nutrition information panels included details on caffeine content. The percent of caffeine present ranged from 59% to 176% of packaging claims. All but one PWS contained a variation of caffeine within and between batches that was considered “practically” significant (ie, ≥40 mg·serve^?1 variation). Consumers are likely to be exposed to large and variable caffeine doses if ingesting PWS. Product information panels do little to improve consumer awareness of likely caffeine intakes.     

The Comparative Experiences of Women in Control: Diabetes Self-Management Education in a Virtual World

The purpose was to characterize participants’ experiences of a diabetes self-management (DSM) education program delivered via a virtual world (VW) versus a face-to-face (F2F) format. Participants included a randomly selected sample of participants who completed the Women in Control study. Four focus groups were conducted with 32 participants. Four researchers coded the data and conducted a qualitative thematic analysis. Four overarching themes were identified. Three domains apply to both VW and F2F formats, including (1) the value of DSM knowledge gained, (2) cultivating DSM attitudes and skills, and (3) the value of peer-derived social support. The fourth domain is labeled positive technological development for DSM (VW condition only). VW and F2F groups both reported mastery of DSM knowledge, attitudes, and skills, and there were no differences in peer-derived social support between groups. The technological aspects of VW participation afforded VW participants a unique sense of personal agency and diabetes self-efficacy not reported by F2F participants. DSM education in a VW is feasible and educational outcomes are similar to a F2F classroom experience. Furthermore, learning DSM skills in a VW offers unique advantages in supporting personal agency for health behavior change. Further research is warranted.