Cerebral aspergilloma in a child with autosomal recessive chronic granulomatous disease

A 2 year old girl presented with epilepsy 16 months after being diagnosed as having autosomal recessive chronic granulomatous disease. Computed tomography showed a cerebral mass which was surgically removed and proved histologically to be an aspergilloma. This case illustrates the application of molecular diagnostic techniques to the diagnosis of chronic granulomatous disease. The occurrence of, and unusual reaction to, cerebral aspergillus infection indicates the need to consider this possibility in the differential diagnosis of mass lesions in chronic granulomatous disease. Furthermore, it is clear that autosomal recessive chronic granulomatous disease cannot be considered to be a clinically mild form that is exempt from major neurological complications.     

A Possible Smoking Susceptibility Locus on Chromosome 11p12: Evidence from Sex-limitation Linkage Analyses in a Sample of Australian Twin Families

Many twin studies have identified sex differences in the influence of genetic and environmental factors on smoking behaviors. We explore the evidence for sex differences for smoking initiation and cigarette consumption in a sample of Australian twin families, and extend these models to incorporate sex differences in linkage analyses for these traits. We further examine the impact of including or excluding non-smokers in genetic analyses of tobacco consumption. Accounting for sex differences improved linkage results in some instances. We identified one region suggestive of linkage on chromosome 11p12. This locus, as well as another region identified on chromosome 6p12, replicates regions identified in previous studies.     

The effect of maximum bite force on alveolar bone morphology

Authors – Thongudomporn U, Chongsuvivatwong V, Geater AF Objectives – To investigate to what extent maximum bite force contributes to alveolar bone morphology parameters, i.e. alveolar thickness, shape and arch width. Design – An observational cross‐sectional survey. Setting and Sample Population – One hundred and fifty one 12‐ to 14‐year‐old students from a secondary school in Hatyai City, Songkhla Province, Thailand. Material and Methods – Height, weight and maximum bite force of each subject were recorded. Alveolar bone morphology parameters were measured from study models. Results – Maximum bite force moderately correlated with alveolar thickness and shape (r = 0.31–0.44, p < 0.001), but weakly correlated with arch width (r = 0.03–0.05, p > 0.05). After adjusting for gender and body mass index (BMI), the maximum bite force significantly determined alveolar thickness and shape (p < 0.001), accounting for 10–20% of the variations. Boys were associated with larger posterior arch width (p < 0.01), where BMI was not associated with alveolar bone morphology parameters (p > 0.01) after Bonferroni correction for multiple testing. Conclusion – Maximum bite force had a selective influence on alveolar thickness and shape, but not on arch width.     

Expanding etiology of progressive familial intrahepatic cholestasis

BACKGROUND Progressive familial intrahepatic cholestasis(PFIC) refers to a disparate group of autosomal recessive disorders that are linked by the inability to appropriately form and excrete bile from hepatocytes, resulting in a hepatocellular form of cholestasis. While the diagnosis of such disorders had historically been based on pattern recognition of unremitting cholestasis without other identified molecular or anatomic cause, recent scientific advancements have uncovered multiple specific responsible proteins. The variety of identified defects has resulted in an ever-broadening phenotypic spectrum, ranging from traditional benign recurrent jaundice to progressive cholestasis and end-stage liver disease.AIM To review current data on defects in bile acid homeostasis, explore the expanding knowledge base of genetic based diseases in this field, and report disease characteristics and management.METHODS We conducted a systemic review according to PRISMA guidelines. We performed a Medline/PubMed search in February-March 2019 for relevant articles relating to the understanding, diagnosis, and management of bile acid homeostasis with a focus on the family of diseases collectively known as PFIC. English only articles were accessed in full. The manual search included references of retrieved articles.We extracted data on disease characteristics, associations with other diseases, and treatment. Data was summarized and presented in text, figure, and table format.RESULTS Genetic-based liver disease resulting in the inability to properly form and secrete bile constitute an important cause of morbidity and mortality in children and increasingly in adults. A growing number of PFIC have been described based on an expanded understanding of biliary transport mechanism defects and the development of a common phenotype.CONCLUSION We present a summary of current advances made in a number of areas relevant to both the classically described FIC1(ATP8 B1), BSEP(ABCB11), and MDR3(ABCB4) transporter deficiencies, as well as more recently described gene mutations--TJP2(TJP2), FXR(NR1 H4), MYO5 B(MYO5 B), and others which expand the etiology and understanding of PFIC-related cholestatic diseases and bile transport.