Atavisms: medical, genetic, and evolutionary implications

Traits expected to be lost in the evolutionary history of a species occasionally reappear apparently out of the blue. Such traits as extra nipples or tails in humans, hind limbs in whales, teeth in birds, or wings in wingless stick insects remind us that certain genetic information is not completely lost, but can be reactivated. Atavisms seem to violate one of the central evolutionary principles, known as Dollo's law, that "an organism is unable to return, even partially, to a previous stage already realized in the ranks of its ancestors." Although it is still not clear what triggers and controls the reactivation of dormant traits, atavisms are a challenge to evolutionary biologists and geneticists. This article presents some of the more striking examples of atavisms, discusses some of the currently controversial issues like human quadrupedalism, and reviews the progress made in explaining some of the mechanisms that can lead to atavistic features.     

Empathy in UK medical students: differences by gender, medical year and specialty interest

The importance of empathetic communication in the context of patient care has been suggested as a crucial element in the delivery of high-quality medical care. Although some countries have measured empathy among medical students, little is known formally about the state of affairs regarding empathy in the UK with regard to gender, medical years and speciality. This paper presents the results from a cross-sectional study that explored the relationship between undergraduate medical students' empathy scores relevant to gender, medical school year and future career ambitions. The Jefferson Scale of Physician Empathy, a self-administered questionnaire, was used for collecting data. It was decided to incorporate the scale into a web application that was only accessible through a confidential hyperlink. A total of 853 (68.2%) medical students completed the survey. Female students (n=470) scored significantly (t((819))=-6.63; 95% CI=-0.30, -0.16) higher than male students (n=351). No significant differences were observed between empathy mean scores and medical school year. Students choosing people-oriented specialities had significantly higher mean scores in comparison to students preferring technology oriented specialities. Three hypotheses were tested in this study. The hypothesis that female students would score higher than male students was supported by the results. The findings did not support the hypothesis that empathy scores decline during the medical school years. Finally, the findings did support the hypothesis that those preferring peopleoriented specialities would score higher on the empathy scale than students choosing technology oriented specialities. Some recommendations are made and the limitations of study are discussed.     

Continuing medical education in Europe: NVVC,CVOI, ESC,UEMS and EBAC

The European Board for Accreditation in Cardiology (EBAC) is a joint initiative of the European Society of Cardiology (ESC) and the Cardiology Section of the Union of European Medical Specialists or Union Européenne des Médecins Spécialistes (UEMS). EBAC operates independently from these parent organisations. The ESC is the highest cardiovascular scientific authority in Europe and the most important provider of Continuing Medical Education (CME) in cardiology. The UEMS officially represents the European medical specialists at the European Union (EU). The UEMS consists of different mono-specialist sections, among which the Cardiology Section. The recognition of the importance of CME and the need for quality standards and quality control led the UEMS to establish the European Accreditation Council for CME (EACCME) in January 2000. CME activities that seek European accreditation have to comply with the regulations of this council. As a consequence of the establishment of EACCME, the mono-specialist sections of the UEMS together with the different European scientific societies started to create accreditation boards with the aim to assess international CME activities in accordance with the regulations of UEMS and EACCME. EBAC was founded in 2000. EBAC accreditation is complimentary to national CME accreditation. The Netherlands Society of Cardiology (Nederlandse Vereniging voor Cardiologie, NVVC) and its Institute for CME, the Netherlands Institute for Continuing Cardiovascular Education (Cardio-Vasculair Onderwijs Instituut, CVOI) formally recognise EBAC accreditation and Attendance Certificates.     

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

Carnitine palmitoyltransferase (CPT) deficiencies are common disorders of mitochondrial fatty acid oxidation. The CPT system is made up of two separate proteins located in the outer (CPT1) and inner (CPT2) mitochondrial membranes. While CPT2 is an ubiquitous protein, three tissue-specific CPT1 isoforms––the so-called “liver” (CPT1-A), “muscle” (CPT1B) and «brain» (CPT1-C) CPT1s––have been shown to exist. Amino acid and cDNA nucleotide sequences have been identified for all of these proteins. CPT1-A deficiency presents as recurrent attacks of fasting hypoketotic hypoglycemia. Twenty four CPT1A mutations have been reported to date. CPT1-B and -C deficiencies have not been hitherto identified. CPT2 deficiency has several clinical presentations. The “benign” adult form (more than 200 families reported) is characterized by episodes of rhabdomyolysis triggered by prolonged exercise. The prevalent S113L mutation is found in about 50% of mutant alleles. The infantile-type CPT2 presents as severe attacks of hypoketotic hypoglycemia, occasionally associated with cardiac damage commonly responsible for sudden death before 1 year of age. In addition to these symptoms, features of brain and kidney dysorganogenesis are frequently seen in the neonatal-onset CPT2 deficiency, almost always lethal during the first month of life. Around 40 CPT2 mutations (private missense or truncating mutations) have hitherto been detected. Treatment is based upon avoidance of fasting and/or exercise, a low fat diet enriched with medium chain triglycerides and carnitine. Prenatal diagnosis may be offered for pregnancies at a 1/4 risk of infantile/severe-type CPT2 deficiency.     

Claiming respectable American motherhood: homebirth mothers, medical officials, and the state

Based on ethnographic research regarding public policy and grassroots organizing for midwifery in Virginia, this article explores how medical discourses around appropriate health care practices intersect with state discourses about what practices are considered "respectable" versus "pathological" for its citizens. In recent legislative debates about the legalization of direct-entry midwifery, medical officials have extended their criticism of midwifery and homebirth to mothers who resist state-sanctioned childbirth practices. This article examines how medical officials challenge the respectable mothering practices of homebirthers by linking them with women they deem pathological--child abusers, negligent mothers, and drug users--and placing them outside the cadre of "normal" American mothers who acknowledge the "logical" and "natural" superiority of biomedical childbirth practices. I also address homebirth mothers' responses, which assert that their political advocacy for midwives is a respectable mothering practice because they are responsible citizens who desire what they deem the best care for their children.     

Juvenile dermatomyositis: medical,social and economic status in adulthood.

Eighteen adults were studied an average of 18.5 years after the diagnosis of juvenile dermatomyositis had been made. Persistent weakness was found in six patients and recurrent rash in the classic distribution in seven. Other clinical features present were Raynaud''s phenomenon, arthritis and subcutaneous nodules. Minor increases in the serum creatine phosphokinase level were noted in seven patients and did not correlate with the presence of weakness or rash. Educational achievement and employment status were better in this group than in a group of adults with juvenile rheumatoid arthritis or the general adult population of British Columbia. Significant residual disability related to calcinosis and flexion contractures was present in only three of the patients.