What's in a name? Renaming ‘NAFLD’ to ‘MAFLD’

In medicine, language matters and the words used to name and describe a disease can have a profound impact on patients and their families. Over the last two decades, many criticisms have been voiced about the nomenclature and definition of non‐alcoholic fatty liver disease (NAFLD) in regards not only to the prominent role that alcohol plays in the definition but also on the negative impacts of the nomenclature including trivialization, stigmatization and less consideration of the disease in health policy. Recently, a consensus of international experts proposed that the disease acronym be changed from NAFLD to metabolic (dysfunction) associated fatty liver disease or ‘MAFLD’. This change goes far beyond a mere semantic revision and may be the first step that catalyses the process to better conceptualize the disease for health promotion, patient orientation, case identification, ongoing clinical trials and for health services delivery. Here we review the history of, and definitions of MAFLD in the context of advancing our understanding of the pathogenesis of the disease. We also address the reasons, signals, promises, challenges and the way going forward from the name change from various stakeholder perspectives.     

Rituximab or a second anti–tumor necrosis factor therapy for rheumatoid arthritis patients who have failed their first anti–tumor necrosis factor therapy? Comparative analysis from the British Society for Rheumatology Biologics Register

Objective

To compare the effectiveness of rituximab (RTX) or a second anti–tumor necrosis factor (anti‐TNF) therapy in rheumatoid arthritis (RA) patients who had failed their first anti‐TNF and switched to either RTX or a second anti‐TNF, in routine clinical practice.

Methods

RA patients were registered with the British Society for Rheumatology Biologics Register. Response to treatment 6 months after switching was assessed using European League Against Rheumatism (EULAR) criteria and improvements in a Health Assessment Questionnaire (HAQ) score (0.22 unit or more). Regression analyses were used to compare EULAR response and improvement in HAQ score between the 2 groups, adjusting for propensity scores.

Results

In total, 1,328 patients were included in the analysis of EULAR response, and 937 patients were included in the analysis of HAQ scores. Six months after switching, 54.8% of patients who switched to RTX were EULAR responders compared to 47.3% of those who switched to a second anti‐TNF. A total of 38.4% of RTX patients achieved a clinically important improvement in HAQ score compared to 29.6% in anti‐TNF patients. After adjustment using propensity scores, patients who switched to RTX were significantly more likely to achieve EULAR response (odds ratio [OR] 1.31; 95% confidence interval [95% CI] 1.02, 1.69) compared to those who switched to an alternative anti‐TNF. RTX patients were also significantly more likely to achieve improvements in HAQ score (OR 1.49; 95% CI 1.07, 2.08).

Conclusion

The results suggest that switching to RTX may be of more benefit than switching to an alternative anti‐TNF therapy after failing the first anti‐TNF therapy in RA patients.     

‘Right’ way to ‘do’ illness? Thinking critically about positive thinking

Exhortations to 'be positive' accompany many situations in life, either as a general injunction or in difficult situations where people are facing pressure or adversity. It is particularly evident in health care, where positive thinking has become an aspect of the way people are expected to 'do' illness in developed society. Positive thinking is framed both as a moral injunction and as a central belief system. It is thought to help patients cope emotionally with illness and to provide a biological benefit. Yet, the meanings, expectations and outcomes of positive thinking are infrequently questioned and the risks of positive thinking are rarely examined. We outline some of the latter and suggest that health professionals should exercise caution in both 'prescribing' positive thinking and in responding to patients and carers whose belief systems and feelings of obligation rest on it.     

Redefining Type 2 diabetes: ‘Diabesity’ or ‘Obesity Dependent Diabetes Mellitus’?

Type 2 diabetes is considered by diabetes physicians as a complex and heterogeneous disease with a poorly understood aetiology, apart from the fact that there is a strong genetic propensity that becomes overt when exposed to a typical Western lifestyle. Our clinical targets are now moving from controlling the disease to preventing it. Do we need to await more research on the aetiology and pathophysiology before establishing a preventive strategy? No, the pathophysiology may be poorly understood, but there is now solid evidence that type 2 diabetes is a disease of fatness. New, controlled, clinical trials show that as little as 5% weight loss is sufficient to prevent most obese subjects with impaired glucose tolerance developing type 2 diabetes. Since type 2 diabetes is obesity dependent, and obesity is the main aetiogical cause of type 2 diabetes, we propose the term ‘diabesity’ should be adopted.     

Juvenile rheumatoid arthritis in rochester,minnesota 1960–1993. Is the epidemiology changing?

Objective. To examine trends in the incidence and prevalence of juvenile rheumatoid arthritis (JRA) in Rochester, Minnesota, over 33 years. Methods. The diagnostic retrieval system of the Rochester Epidemiology Project was utilized to screen medical records of all Rochester residents with any potential diagnoses of JRA from 1978 to 1993 (based on the American College of Rheumatology 1977 revised criteria). In addition, all cases of JRA from our previously identified cohort from 1960–1979 were verified, and the 2 data sets were combined, resulting in an incidence cohort spanning 33 years (1960–1993). Results. Of the 1,240 medical records screened, we identified 65 cases of JRA diagnosed between 1960 and 1993 (48 females, 17 males). The average followup for cases was 12.7 years (range 0–34 years) for a total of 833 person-years of observation. A bimodal distribution of age at diagnosis was observed, with peaks between 0 and 4 years and 9 and 15 years. Seventy-two percent of patients had pauciarticular-onset, 17% had polyarticular-onset, and 11% had systemic-onset disease. Progression of pauciarticular to polyarticular disease occurred in 11% of the cases. The overall age- and sex-adjusted incidence rate was 11.7 per 100,000 population (95% confidence intervals 8.7, 14.8). The incidence rate per 100,000 population was 15.0, 14.1, and 7.8 for the time periods 1960–1969, 1970–1979, and 1980–1993, respectively (P = 0.024). A 3-year, centered, moving average, which was used to display time trends in incidence, suggested a cyclical pattern, with incidence peaks in 1967, 1975, and 1987. Conclusion. An overall decrease in the incidence rate over the last decade was observed, most marked in the pauciarticular- and systemic-onset subtypes. This decrease, along with the observed cyclical pattern, suggest that environmental factors may influence disease frequency.     

The ‘royal disease’– haemophilia A or B? A haematological mystery is finally solved

Summary. ‘History can change blood. And blood can change the course of history’. Haemophilia is an illustration of this, as this congenital hereditary coagulation disorder, passed through the majority of royal European families at the beginning of the 20th century by Queen Victoria of England and Empress of the Indies, had indisputable political consequences, which led to one of the most defining moments of contemporary history: the Bolshevik Revolution. Today, none of Queen Victoria’s living descendents carry haemophilia. Because of this, the characterization of haemophilia (deficit of either factor VIII or XI) and the identification of the causal mutation are rendered impossible. In 1991, a tomb containing the remains of Czar Nicolas II’s entire family was discovered. A second tomb was discovered in 2007, allowing Russian and American scientists to fill in this gap in medical history. Following a scientific approach combining current genetic experimentation tools and the development of biological information technology, researchers were able to identify each body, allowing them to obtain precious genetic material from the young Czar Alexis, who was stricken by the disease, which revealed a causal substitution in the splice acceptor site of exon 4 in the F9 gene. This mutation that is responsible for haemophilia B had traumatized European royal families throughout the 20th century!     

Barrett’s oesophagus in Asians – are ethnic differences due to genes or the environment?

Ethnic differences in the prevalence of gastro-oesophageal reflux disease (GORD) and its complications, including Barrett's oesophagus (BO), are well described in multiracial Asian patient populations. These findings together with familial aggregation of GORD symptoms and twin studies suggest the possibility of a genetic component to GORD. Nevertheless, environmental factors, e.g. Helicobacter pylori infection, abdominal adiposity and metabolic syndrome, could equally account for these differences. Indian (South Asian) race is a risk factor for Barrett' oesophagus. This may be related to the Caucasian genetic make-up of Indians as opposed to an Oriental one as is the case of most other Asians. The HLA-B07 gene commonly found in South Asian and Caucasian populations, but not Orientals, may confer an increased risk for BO. Nevertheless, the high prevalence of H. pylori in South Asians and the consequent atrophic gastritis and hypochlorhydria may partially ameliorate this genetic predisposition to BO. The higher prevalence of obesity and the metabolic syndrome amongst certain Asiatic races may also contribute to the observed increased risk for BO. Future research should target the search for GORD/BO genes, ethnic differences in parietal cell mass and hiatal hernia, H. pylori colonization factors (e.g. MUC1 and MUC2) and adhesion molecules (BabA). Racial differences in lifestyle factors, i.e. abdominal adiposity, consumption of fruit and vegetables as well as smoking, should all be investigated as potential causes for this interethnic variation in GORD and BO. Nature or nurture, the clues are teasing and tantalizing and illustrate the complex relationship between the genetic make-up of man and the environment.     

‘Frequent’ ventricular bigeminy – A reversible cause of dilated cardiomyopathy. How frequent is ‘frequent’?

An interesting development in the field of heart failure has been the link between frequent premature ventricular contractions and cardiomyopathy. We report a patient whose frequent ventricular bigeminy resulted in left ventricular impairment that resolved after the use of non-contact mapping during radiofrequency ablation. A review of the literature regarding possible mechanisms is discussed. For the practicing clinician, the question of 'frequent' should be taken in context of symptoms and LV function. A single 24-h Holter monitor may not truly reflect the ectopic load. We recommend that if there is associated LV dysfunction and a causal link to frequent PVCs then suppression with radiofrequency ablation is a safe and effective treatment strategy.